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Gene: Zeb1 MGI:1344313

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

zinc finger E-box binding homeobox 1

Synonyms:

ZEB, 3110032K11Rik, [delta]EF1, Nil2, Tcf18, MEB1, AREB6, Tw, Tcf8, Zfx1a, Zfhep, Zfhx1a

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Zeb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Zeb1 (4 diseases)
Human diseases predicted to be associated with Zeb1 (4358 diseases)

The table below shows human diseases associated to Zeb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974

The table below shows human diseases predicted to be associated to Zeb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Lymphoproliferative Syndrome 3	Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo...	OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Immunodeficiency 102	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci...	OMIM:301082
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Immunodeficiency 20	Reduced natural killer cell count, Reduced natural killer cell activity	OMIM:615707
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Deafness-Oligodontia Syndrome	Sensorineural hearing impairment, Oligodontia, Vertigo, Abnormality of the inner ear	ORPHA:3230
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Fee...	ORPHA:141152
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer...	OMIM:108720
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat...	OMIM:619510
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I...	OMIM:611926
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof...	OMIM:269250
Microcornea, Glaucoma, And Absent Frontal Sinuses	Microcornea	OMIM:156700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Disorganization, Mouse, Homolog Of	Cleft upper lip, Sensorineural hearing impairment, Cleft palate	OMIM:223200
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture...	ORPHA:93320
Platyspondylic Dysplasia, Torrance Type	Disproportionate short-limb short stature, Hypoplastic pelvis, Short distal phalanx of finger, Ge...	ORPHA:85166
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Multiple Epiphyseal Dysplasia Type 4	Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ...	ORPHA:93307
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Hypoplastic...	OMIM:228520
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Syngnathia	Cleft palate	OMIM:119550
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Joint stiffness, Mesomelia, Umbilic...	ORPHA:2496
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Short metacarpal, Abno...	ORPHA:1427
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microdontia, Delayed skeletal matu...	OMIM:210720
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Feeding difficulties in infancy	OMIM:261800
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Dermochondrocorneal Dystrophy	Corneal dystrophy	ORPHA:79149
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Microtia, Narrow mouth, Atresia of the external auditory canal, Cleft upper lip, M...	OMIM:239800
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Non-midline cleft of the upper lip, Convex nasal ridge, Wide nasal bridge, Underd...	ORPHA:2007
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m...	ORPHA:1452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Corneal Dystrophy, Lattice Type I	Recurrent corneal erosions, Lattice corneal dystrophy	OMIM:122200
Femoral-Facial Syndrome	Microtia, Long philtrum, Abnormal fibula morphology, Scoliosis, Short stature, Aplasia/Hypoplasia...	ORPHA:1988
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Corneal Dystrophy, Avellino Type	Lattice corneal dystrophy	OMIM:607541
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit...	OMIM:619636
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Flared ...	OMIM:215045
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber	OMIM:618880
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci...	OMIM:100800
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Aqueductal stenosis, Abnormality of the lower limb, Tibial bowing, Bo...	ORPHA:3035
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Hypoplastic frontal sinuses, Short distal phalanx of fin...	ORPHA:90650
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Short humerus, Hip dislocation, Hypoplasia ...	OMIM:602471
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f...	OMIM:156550
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate	OMIM:600251
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Narrow chest, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Microme...	ORPHA:440354
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Dental crowding, Small earlobe, Femoral bowing, Short ribs, ...	OMIM:600920
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Spondyloepimetaphyseal Dysplasia, Irapa Type	Disproportionate short-limb short stature, Pectus carinatum, Short metacarpal, Hypoplastic pelvis...	ORPHA:93351
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Intrauterine g...	OMIM:311900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp...	OMIM:602450
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Greenberg Dysplasia	Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac...	OMIM:215140
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Vitamin D-Dependent Rickets, Type 2A	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R...	OMIM:277440
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Disproportionate short-limb short stature, Relative...	OMIM:156530
Anophthalmia Plus Syndrome	Tessier cleft, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Non-midline...	ORPHA:1104
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Holzgreve Syndrome	Cleft upper lip, Cleft palate	OMIM:236110
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Hearing impairment, Cleft palate, Prominent nasal bridge, Pro...	ORPHA:85273
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short long bone, Short ribs, Hypoplastic ischia, Severe short stature, Single umbili...	ORPHA:1865
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, High palate, Low-set ears, Decreased intesti...	OMIM:620045
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Short long bone, Femoral bowing, Clubbing, Tibial bo...	OMIM:601559
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he...	OMIM:305620
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Oculomaxillofacial Dysostosis	Abnormality of the nose, Tessier cleft, Abnormality of the dentition, Micrognathia, Cleft palate,...	ORPHA:1794
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An...	OMIM:260660
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Ascites, Decreased skull ossification, Multiple prenatal fractures, Unilateral cleft ...	OMIM:616897
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Decreased circulating total IgM, Hepatomegaly, Abnormal natural kill...	ORPHA:331206
Campomelic Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate...	OMIM:114290
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Disproportionate short-limb short stature, Tibial bowing, Multiple prenatal ...	OMIM:166210
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short...	OMIM:166250
Achondrogenesis Type 1B	Long philtrum, Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Anteverte...	ORPHA:93298
Cenani-Lenz Syndrome	Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp...	ORPHA:3258
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,...	ORPHA:3268
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Tracheoesophageal fistula, Kyphosis, Split foot, Intrauterine growth retardatio...	ORPHA:958
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Disproportionate short-limb short statur...	ORPHA:240
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Ascites, Intestinal malrotat...	OMIM:269860
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Maturity-onset diabete...	ORPHA:324575
Thanatophoric Dysplasia, Type I	Breech presentation, Disproportionate short-limb short stature, Short greater sciatic notch, Wide...	OMIM:187600
Achondrogenesis Type 1A	Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Recurrent fractures, Ant...	ORPHA:93299
Cleft Lip/Palate	Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Oral-pharyngeal dysp...	ORPHA:199306
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R...	OMIM:264700
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ...	OMIM:259420
Kyphomelic Dysplasia	Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cleft palate, Thin...	ORPHA:2015
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel...	ORPHA:276
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s...	OMIM:617866
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Broad nasal tip, Cleft upper lip	ORPHA:85287
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Low-set ears, Choanal atresia, Depressed nasal ridge, Cleft u...	OMIM:607597
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Hypoplastic nasal bone, Bifid ...	OMIM:154780
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
Zechi-Ceide Syndrome	Wide nose, Stenosis of the external auditory canal, Oligodontia, Cleft upper lip, Cleft palate, M...	OMIM:612916
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce...	OMIM:618982
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Hypoplastic facial bones, Metaphyseal irregula...	OMIM:607326
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Myelomen...	ORPHA:90652
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Pierre-Robin sequence, Cleft palate	OMIM:172880
Frontonasal Dysplasia 3	Tessier cleft, Low-set ears, Cleft palate, Posteriorly rotated ears, Wide nasal bridge, Underdeve...	OMIM:613456
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Polyhydramnios, Platyspondyly, Narrow chest, Flared metaphysis, Short g...	OMIM:187601
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr...	ORPHA:263458
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial...	ORPHA:314795
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Anteverted nares, Intrauterine growth retar...	ORPHA:1512
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Nuchal Bleb, Familial	Stillbirth, Hydrops fetalis, Fetal cystic hygroma	OMIM:257350
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hearing impairment, Cleft upper lip, Cleft palate	OMIM:120433
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Microtia, Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intra...	OMIM:611209
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:66628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Leri-Weill Dyschondrosteosis	Limited elbow movement, Disproportionate short-limb short stature, Tibial bowing, Increased carry...	OMIM:127300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Cleft Velum	Recurrent otitis media, Cleft soft palate, Oral-pharyngeal dysphagia, Poor suck, Nasal regurgitat...	ORPHA:99772
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, ...	OMIM:304120
Premature Aging Syndrome, Penttinen Type	Retrognathia, Sensorineural hearing impairment, Tibial bowing, Delayed skeletal maturation, Aplas...	OMIM:601812
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease...	OMIM:615767
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Anencephaly 2	Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip	OMIM:619452
Burn-Mckeown Syndrome	Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt...	OMIM:608572
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy...	ORPHA:166016
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t...	ORPHA:179494
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Pol...	OMIM:600972
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Perching Syndrome	Respiratory distress, High palate, Dysphagia, Feeding difficulties	OMIM:617055
Fibrochondrogenesis	Abnormal form of the vertebral bodies, Short ribs, Broad ribs, Hearing abnormality, Anteverted na...	ORPHA:2021
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Campomelic Dysplasia	Tracheobronchomalacia, Tibial bowing, Femoral bowing, Short long bone, Kyphosis, Hip dislocation,...	ORPHA:140
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Macrotia, Bilateral cleft lip	OMIM:600776
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Short ribs, Microdontia, Ascites, Mesomelia, Syndactyly, S...	OMIM:614091
Phocomelia, Schinzel Type	Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati...	ORPHA:2879
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Single transverse palmar crease, Scoliosis, High palate, Arefle...	OMIM:611890
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio...	ORPHA:175
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Wide nasal base, Long foot, Delayed erupti...	ORPHA:2563
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia...	ORPHA:293964
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta...	ORPHA:1836
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Tessier cleft, Widely spaced teeth, Solitary median maxillary centra...	ORPHA:66625
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum...	OMIM:619774
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg...	OMIM:249710
Thomas Syndrome	Cleft upper lip, Cleft palate	ORPHA:3316
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Muenke Syndrome	Capitate-hamate fusion, Radial deviation of finger, Recurrent otitis media, Cone-shaped epiphyses...	OMIM:602849
Waardenburg Syndrome, Type 3	Premature graying of hair, Aganglionic megacolon, Sensorineural hearing impairment, Mandibular pr...	OMIM:148820
Tarp Syndrome	Rocker bottom foot, Small earlobe, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, ...	ORPHA:2886
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,...	OMIM:143095
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Cortisone Reductase Deficiency 2	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature...	OMIM:614662
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Dyspnea, Mandibul...	ORPHA:1832
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Hypophosphatemic Rickets, X-Linked Dominant	Tibial bowing, Femoral bowing, Enamel hypomineralization, Metaphyseal irregularity, Rickets, Fibu...	OMIM:307800
Mandibuloacral Dysplasia	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o...	ORPHA:2457
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, F...	OMIM:613848
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide...	OMIM:252500
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Postnatal growth retardation, Clinodactyly of the 5th toe, Retrognathia, Long nose, Clinodactyly ...	OMIM:620113
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hearing impairment...	OMIM:605282
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Hypertension, Pect...	OMIM:602535
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Diffuse pancreatic...	ORPHA:276575
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal ovarian morphology, Abnormal earlobe morphology, Pr...	ORPHA:95699
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:607373
Autism	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:209850
Pseudoachondroplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone...	ORPHA:750
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Pectus excavatum, Microdontia, Kyphosis, Low-set...	OMIM:258850
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Cleft Palate-Lateral Synechia Syndrome	Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate	ORPHA:2016
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Short long bone, Femoral bowing, Hyperlordosis, Kyphos...	OMIM:618019
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D...	OMIM:256050
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Death in childhood, Hydrops fetalis, Abnormal foot morpholo...	OMIM:269920
Ruvalcaba Syndrome	Delayed puberty, Proximal placement of thumb, Pectus carinatum, Dental crowding, Short metacarpal...	ORPHA:3121
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hydrocephalus, Microm...	OMIM:612651
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Abnormal pinna morphology, Low-set ears, Depressed nasal ridge, Intestinal malro...	ORPHA:77300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Achondrogenesis, Type Ii	Short tubular bones of the hand, Long philtrum, Stillbirth, Hydrops fetalis, Polyhydramnios, Barr...	OMIM:200610
2q33.1 deletion syndrome	Cleft palate, High palate, Feeding difficulties in infancy	DECIPHER:51
Auriculocondylar Syndrome 4	Narrow mouth, Glossoptosis, Question mark ear, Hearing impairment, Micrognathia, Apnea, Cleft palate	OMIM:620457
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Sensorineural hearing impairment, Delayed sk...	OMIM:122470
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni...	OMIM:265000
Hypocalcemic Vitamin D-Dependent Rickets	Tibial bowing, Femoral bowing, Cardiomyopathy, Splenomegaly, Genu varum, Rickets, Enlargement of ...	ORPHA:289157
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Kyphosis, Lateral femo...	OMIM:112350
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Depressed nasal ridge,...	ORPHA:1248
Fetal Parvovirus Syndrome	Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Intrauterin...	ORPHA:295
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:311895
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h...	ORPHA:276580
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I...	OMIM:610947
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Sco...	OMIM:308050
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
W Syndrome	Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductu...	ORPHA:2804
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus...	ORPHA:79299
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Osteogenesis Imperfecta, Type Viii	Disproportionate short-limb short stature, Tibial bowing, Femoral bowing, Short metacarpal, Decre...	OMIM:610915
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Enlargement of the costochondral junction, Enlargement of the wrists, De...	OMIM:600081
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Absent cupid's bow, Widely spaced teeth, Recurrent otitis media, Ante...	OMIM:617616
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Megaepiphyseal Dwarfism	Cleft palate	OMIM:249230
Lethal Congenital Contracture Syndrome 10	Short long bone, Femoral bowing, Long philtrum, Intrauterine growth retardation, Adducted thumb, ...	OMIM:617022
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Mmep Syndrome	Orofacial cleft, Mandibular prognathia, Median cleft upper lip	ORPHA:3434
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce...	OMIM:601349
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Mesomelia-Synostoses Syndrome	Narrow foot, Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar devi...	OMIM:600383
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ...	OMIM:616050
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte...	OMIM:612350
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Hearing abnormality, Anteverted nares, Narrow mouth, Depressed nasal ...	ORPHA:2412
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Convex nasal ridge, Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Mic...	ORPHA:1277
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level	OMIM:235550
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Hyperlordosis, Shor...	OMIM:272460
Achondrogenesis	Short nose, Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Abnormality of bone mine...	ORPHA:932
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Talipes equinovalgus, Mi...	ORPHA:453510
Steel Syndrome	Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Antev...	OMIM:615155
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Kyphosis, Umbilical hernia, Long philtrum, Intrauterine gr...	ORPHA:2311
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Developmental And Epileptic Encephalopathy 96	Neonatal respiratory distress, Hydrops fetalis, Death in infancy	OMIM:619340
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, Mandibular prognathia, Hyperlo...	ORPHA:710
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Low-set ears, Cleft upper lip, Bilateral cleft lip	OMIM:601357
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Multiple Symmetric Lipomatosis	Insulin resistance, Gait disturbance, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening	OMIM:613857
Pallister-Hall Syndrome	Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Decreased c...	OMIM:146510
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Low-set ears	OMIM:231060
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun...	OMIM:608600
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,...	OMIM:614195
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus, Lipodystrophy	OMIM:246650
Momo Syndrome	Long foot, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Dela...	OMIM:157980
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Abnormal hip bone morphology, S...	ORPHA:1507
Orofaciodigital Syndrome Viii	Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Median cleft upper lip	OMIM:300484
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears, Abnormal social behavior	ORPHA:436151
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, Polyhydramnios, 11 pairs of ribs, High palate, Low-set ears, Ca...	OMIM:618393
Split hand/foot malformation 1 (SHFM1)	Sensorineural hearing impairment, Cleft palate, Median cleft upper lip	DECIPHER:46
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Platyspondyly, Respiratory insufficiency, Hyperextensibility of the finger joints, ...	OMIM:313420
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R...	OMIM:612526
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:242860
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea...	ORPHA:79085
Pelviscapular Dysplasia	Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of the joint spac...	ORPHA:93333
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Premat...	ORPHA:50945
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Pectus carinatum, Dental crowding, Thoracic kyphoscoliosis, Micr...	OMIM:618371
Corneal Dystrophy, Lattice Type Iiia	Lattice corneal dystrophy, Corneal erosion	OMIM:608471
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short met...	ORPHA:56304
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Non-midline cleft of the upper lip, Abnormal intestin...	ORPHA:3080
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Aarskog-Scott Syndrome	Abnormal pinna morphology, Pectus excavatum, Everted lower lip vermilion, Umbilical hernia, Long ...	ORPHA:915
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Apert Syndrome	Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact...	OMIM:101200
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Split foot, Intrauterine growth retardation, Oligohydramnios, Hip dislocation, Hy...	OMIM:200980
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too...	ORPHA:952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C...	OMIM:608940
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ...	OMIM:141400
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p...	OMIM:156510
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Frontofacionasal Dysplasia	Tessier cleft, Short nose, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid nasal t...	ORPHA:1791
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior	ORPHA:329249
Meckel Syndrome, Type 8	Abdominal distention, Short nose, Low-set ears, Depressed nasal ridge, Cleft upper lip, Cleft palate	OMIM:613885
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging of the costochondral junction, Tibial bowing, Femoral bowing, Metaphyseal irregularity, R...	OMIM:241530
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Short ribs, Severe intrauterine growth retardation, Short metacarpal, ...	ORPHA:3404
Diprosopus	Abnormality of the nose, Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate	ORPHA:1681
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Platyspondyly, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thi...	ORPHA:163966
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Respiratory insuff...	ORPHA:3191
Ellis-Van Creveld Syndrome	Disproportionate short-limb short stature, Hypoplastic iliac wing, Pectus carinatum, Short long b...	OMIM:225500
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Unilateral Ocular Duplication	Midline facial cleft, Cleft palate, Median cleft upper lip	ORPHA:3374
Schneckenbecken Dysplasia	Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short ribs, Dum...	ORPHA:3144
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external auditory canal, A...	ORPHA:1513
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the...	OMIM:114300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Breech presentation, Tibial bowing, Femoral bowing, Kyphosis, Mesomelia, Severe short stature, Rh...	OMIM:616482
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero...	OMIM:232700
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Intrauterine growth retardat...	ORPHA:439822
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Narrow ...	ORPHA:1323
Metaphyseal Dysplasia, Spahr Type	Osteochondritis dissecans, Genu valgum, Metaphyseal sclerosis, Knee pain, Short stature, Short lo...	OMIM:250400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,...	ORPHA:2990
Acromesomelic Dysplasia 1	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Sh...	OMIM:602875
Tarsal-Carpal Coalition Syndrome	Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism...	OMIM:186570
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion, Fetal ascites	OMIM:619462
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Intrauterine growth retard...	OMIM:620076
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal de...	ORPHA:1005
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Parietal Foramina 1	Cleft upper lip, Cleft palate	OMIM:168500
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment...	OMIM:608154
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun...	ORPHA:435660
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,...	OMIM:614753
Geroderma Osteodysplasticum	Kyphoscoliosis, Tibial bowing, Femoral bowing, Biconcave vertebral bodies, Severe short stature, ...	OMIM:231070
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cleft palate, Malar flattening	OMIM:300261
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis	OMIM:236750
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Immunodeficiency, Common Variable, 6	Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:613496
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:300853
Apert Syndrome	Sensorineural hearing impairment, Hypertension, Broad thumb, Bifid uvula, Narrow palate, Ovarian ...	ORPHA:87
Muenke Syndrome	High, narrow palate, Tarsal synostosis, Hydrocephalus, Sensorineural hearing impairment, Short fo...	ORPHA:53271
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Glass Syndrome	Long nose, Dental crowding, Generalized osteoporosis, Arachnodactyly, Long philtrum, Narrow nose,...	OMIM:612313
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee o...	ORPHA:93356
Scarf Syndrome	Long philtrum, Wide nasal base, Low-set, posteriorly rotated ears, Joint hypermobility, Abnormal ...	ORPHA:3134
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Parc Syndrome	Cleft palate, Microretrognathia	OMIM:600331
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Epiphyseal Dysplasia, Multiple, 1	Disproportionate short-limb short stature, Short metacarpal, Joint stiffness, Broad femoral neck,...	OMIM:132400
Neuralgic Amyotrophy	Respiratory insufficiency, Scapular winging, Narrow mouth, Short stature, Sprengel anomaly, Bifid...	ORPHA:2901
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Hypoplastic nasal septum, Ant...	ORPHA:40366
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Klippel-Feil Syndrome 2, Autosomal Recessive	Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Cleft...	OMIM:214300
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Agitation, Large for gestational age, Diffuse pancreatic islet hyperplasia...	ORPHA:276556
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Knee dislocation, Hyperlordosis, Tooth agenesis, Accelerated ske...	OMIM:618363
Corneal Dystrophy, Fleck	Speckled corneal dystrophy	OMIM:121850
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Frontonasal Dysplasia 1	Widely-spaced maxillary central incisors, Bifid nasal tip, Low-set ears, Median cleft palate, Hyp...	OMIM:136760
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Trisomy 1Q	Long foot, Hydrops fetalis, Polyhydramnios, Wide nose, Short thorax, Hydrocephalus, Narrow mouth,...	ORPHA:261344
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Sensorineural hearing impairment, Short long bone, Prominent interphala...	OMIM:215150
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Abnormal nasopharynx morphology, Short distal phalanx of finger, Increased density...	OMIM:269150
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Severe intra...	OMIM:218600
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized...	OMIM:600785
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Acromicric Dysplasia	Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho...	OMIM:102370
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent...	OMIM:170390
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Long philtrum, Intrauterine growth retardation, Oligohydramnios, Triangular mo...	OMIM:257300
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c...	OMIM:312830
Congenital Syphilis	Periostitis, Tibial bowing, Prolonged neonatal jaundice, Premature birth, Intrauterine growth ret...	ORPHA:499009
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh...	ORPHA:276608
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Desbuquois Dysplasia 2	Pectus carinatum, Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Pectu...	OMIM:615777
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral...	OMIM:212720
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Anterior scalloping of vertebral bodies, Hypoplastic i...	OMIM:611717
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Hearing impairment, Cleft upper lip, Bifid uvula, Cleft palate, Bulbous nose, W...	OMIM:300958
Camptodactyly Syndrome, Guadalajara Type 1	Abnormal form of the vertebral bodies, Pectus carinatum, Microtia, Pectus excavatum, Delayed skel...	ORPHA:1327
Fetal Akinesia Deformation Sequence 2	High palate, Low-set ears, Feeding difficulties in infancy, Micrognathia, Cleft palate, Tented up...	OMIM:618388
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea	ORPHA:3214
Ullrich Congenital Muscular Dystrophy	Decreased fetal movement, Abnormal palate morphology, Pes valgus, Scoliosis, Elbow flexion contra...	ORPHA:75840
Qazi-Markouizos Syndrome	Abdominal distention, High, narrow palate, Hypoplasia of teeth, Prominent nasal bridge, Open mout...	ORPHA:3010
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s...	ORPHA:950
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Abnormal autonomic nervous system physiology, Obesity, Attention de...	ORPHA:369873
Smith-Mccort Dysplasia 2	Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin...	OMIM:615222
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Retrognathia, Thin vermilion border, Abnormal hip bone morphology...	ORPHA:2631
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Chylous Ascites	Lymphedema, Ascites, Neoplasm	ORPHA:1160
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Disproportionate short-limb short stature, Aplasia/Hypopla...	ORPHA:2098
Mulibrey Nanism	Congestive heart failure, Hydrops fetalis, Wide nose, Absent frontal sinuses, Dental crowding, Hy...	OMIM:253250
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse...	OMIM:177170
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Cleft palate, Synda...	ORPHA:294975
Trisomy 13	Bilateral single transverse palmar creases, Sensorineural hearing impairment, Kyphosis, Long phil...	ORPHA:3378
Treacher Collins Syndrome 4	Conductive hearing impairment, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening, Fe...	OMIM:618939
Phenobarbital Embryopathy	Mandibular prognathia, Low-set ears, Abnormal nasal base norphology, Unilateral cleft lip, Malar ...	ORPHA:1919
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Joint dislocation, Narrow chest, J...	ORPHA:2097
Hyperinsulinemic Hypoglycemia, Familial, 6	Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce...	OMIM:606762
Short Stature And Facioauriculothoracic Malformations	Microtia, Low-set ears, High palate, Cleft upper lip, Cleft palate, Overfolded helix, Cupped ear	OMIM:609654
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Recurrent sinusitis, Decreased fetal movement, Joint hypermobility, Craniosynos...	OMIM:213980
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o...	OMIM:271665
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Anteverted nares, Sensorineural hearing impairment, Pierre-Robin sequence, Cleft palate, Malar fl...	OMIM:184840
Split-Hand/Foot Malformation 3	Abnormal pinna morphology, High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Mi...	OMIM:246560
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Short metacarpal, Delayed skeletal maturation, Long philtrum, Short finger, Scol...	OMIM:190351
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Abnormal pinna morphology, Kyphosis, Respiratory insufficiency due to muscle weak...	OMIM:618291
Morquio Syndrome C	Corneal opacity	OMIM:252300
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Pectus carinatum, Hypermobili...	OMIM:613849
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Retrognathia, Sensorineural hearing impairment, Adducted thumb, Overlapping t...	OMIM:108120
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absen...	OMIM:263650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Charlie M Syndrome	Thin vermilion border, Short philtrum, Non-midline cleft of the upper lip, Narrow mouth, Tooth ag...	ORPHA:1406
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Narrow chest, Ante...	ORPHA:1703
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Severe short stature, Abnormality ...	ORPHA:93316
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Antevert...	ORPHA:217340
Body Mass Index Quantitative Trait Locus 20	Tall stature, Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphyseal sclerosis, ...	OMIM:122860
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Pai Syndrome	Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Cleft palate, Bif...	ORPHA:1993
Three M Syndrome 2	Pectus carinatum, Hyperlordosis, Prominent calcaneus, Delayed skeletal maturation, Severe short s...	OMIM:612921
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Obesity, Overweight	OMIM:613375
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Lymphatic Malformation 12	Polyhydramnios, Lymphedema, Death in adolescence, Fetal pericardial effusion, Fetal pleural effus...	OMIM:620014
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased...	OMIM:615238
Robinow Syndrome	Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Acromesomelia, Broad alveolar...	ORPHA:97360
Ruvalcaba Syndrome	Limited elbow extension, Delayed puberty, Short metatarsal, Narrow chest, Dental crowding, Scolio...	OMIM:180870
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Hypoglossia With Situs Inversus	Malnutrition, Respiratory distress, Narrow mouth, High palate, Low-set ears, Micrognathia, Microg...	OMIM:612776
Congenital Heart Block	Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,...	ORPHA:60041
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno...	ORPHA:1426
Dystonia-Deafness Syndrome 1	Sensorineural hearing impairment, Cleft upper lip, Cleft palate, Dysphagia, Achalasia, Pseudobulb...	OMIM:607371
Lethal Recessive Chondrodysplasia	Polyhydramnios, Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Accelerated s...	ORPHA:1423
Indomethacin Embryofetopathy	Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Premature birth, Oligohydramnios	ORPHA:1909
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia, Overgrowth, Polyphagia	OMIM:620195
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, High palate, Median cleft upper lip, Nasal polyposis	OMIM:155145
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Agammaglobulinemia, Cryptorchidism, Abnormal B cell morphology	OMIM:616910
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Premat...	OMIM:134780
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Intra...	OMIM:619003
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Hyperactivity, Gait ataxia, Re...	ORPHA:363400
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Death in infancy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, I...	OMIM:608540
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Congenit...	OMIM:614613
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Short stature, Decreased calvarial ossification, Micr...	OMIM:618265
Recon Progeroid Syndrome	Proximal placement of thumb, Dental crowding, Narrow nasal ridge, Microtia, Arachnodactyly, Joint...	OMIM:620370
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Death in early adulthood, Femoral retroversion, Sensorineural hearing impairment...	ORPHA:79107
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Microdontia, Hypoplasia of...	ORPHA:221120
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Abnormal cortical bone morphology, Polyhydramnios, Increased bone mineral densit...	ORPHA:2204
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Crossed Polysyndactyly	Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the philt...	ORPHA:2935
Sprengel Deformity	Cleft palate	ORPHA:3181
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Microtia, Stenosis of the external auditory canal, Glossoptosis, Everted lower l...	OMIM:616367
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Perianal abscess, Pectus carinatum, Abnormal pinna morphology, Upturned corners of ...	OMIM:614684
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Anteverted nares, Adrenal hypoplasia, No...	OMIM:613124
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Pectus excavatum, Joint hypermobility, Hip dislocation, Short stature, Cleft pala...	OMIM:615349
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Supernumerary Nostril	Supernumerary naris, Abnormality of ethmoid sinus, Choanal atresia, Tessier cleft	ORPHA:141096
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Death in infancy, Shortening of all distal phalanges of the fingers, Adducted thumb, Anteverted n...	OMIM:616809
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Mixed hearing impairment, Dental crowding, Sensorineural hearing impairment, Broa...	OMIM:616331
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Short nose, Finger syndactyly, Abnormal antihelix morphology, Microtia, Split...	ORPHA:2145
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Monosomy 5P	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormality of bone mineral density, Scolio...	ORPHA:281
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Moebius Syndrome	Radial deviation of finger, Abnormal pinna morphology, Bifid uvula, Syndactyly, Abnormal nasophar...	OMIM:157900
Split-Foot Deformity With Mandibulofacial Dysostosis	Abnormality of the ear, Micrognathia, Cleft palate, Malar flattening	OMIM:183700
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Intestinal malrotation, Intrauterine growth retardation...	ORPHA:99776
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L...	ORPHA:277
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia, Congenital sensorineural hearing impairment	OMIM:606528
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Pycnodysostosis	Disproportionate short-limb short stature, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persi...	ORPHA:763
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Gordon Syndrome	Clinodactyly of the 5th finger, Talipes, Finger syndactyly, Scoliosis, High palate, Pectus excava...	ORPHA:376
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Abnormality of the dentition, Ir...	ORPHA:2752
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, High palate, Low-set ears, Depressed nasal ridge, Velopharyngeal insuf...	OMIM:608363
Orofaciodigital Syndrome Ii	Bifid nasal tip, Pectus excavatum, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum,...	OMIM:252100
Brachydactyly, Type A1	Distal symphalangism of hands, Short metacarpal, Slender metacarpals, Short distal phalanx of fin...	OMIM:112500
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Limited knee extension, Pect...	OMIM:618870
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal...	OMIM:173800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpholo...	ORPHA:2180
Orofaciodigital Syndrome Xix	Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat...	OMIM:620107
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Acromesomelic Dysplasia 3	Radial deviation of finger, Disproportionate short-limb short stature, Aplasia of the proximal ph...	OMIM:609441
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Recurrent viral upper respiratory tract infections, Low-set ears, Everted lower l...	OMIM:616898
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Hydrocephalus, Wide ...	OMIM:207410
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Hypoplastic iliac wing, Sensorineural h...	OMIM:235510
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbi...	ORPHA:798
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Amegakaryocytic thrombocy...	OMIM:605432
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short nose, Anterior hypopituitarism, Hydrocephalus, Short ribs, Postaxi...	OMIM:241800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Disproportionate short stature, Abnormal tibia morpho...	ORPHA:2634
Metatropic Dysplasia	Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Severe short stature, Low-set, ...	ORPHA:2635
Lujan-Fryns Syndrome	Protruding ear, Short philtrum, Dental crowding, Scoliosis, High palate, Pectus excavatum, Abnorm...	ORPHA:776
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Pectus carinatum, Craniosynostosis, Tarsal synostosis, Scoliosis, Elbow flexion contracture, Hemi...	OMIM:178110
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Platyspondyly, Narr...	ORPHA:166272
Congenital Disorder Of Glycosylation, Type Iir	Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p...	OMIM:301045
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce...	ORPHA:35878
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Pectus carinatum,...	OMIM:312870
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De...	OMIM:614470
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Pectus carinatum, Microtia, Narrow mouth, Broad thumb, Short stat...	ORPHA:261295
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Blount Disease	Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ...	ORPHA:2768
Microphthalmia/Coloboma 4	Microcornea	OMIM:251505
Intellectual Developmental Disorder, Autosomal Recessive 13	Short philtrum, Hyperactivity, Recurrent hand flapping, Cleft upper lip, Downturned corners of mo...	OMIM:613192
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Neonatal death	OMIM:273680
Weaver-Williams Syndrome	Protruding ear, Cleft palate, Narrow mouth	ORPHA:3448
Donnai-Barrow Syndrome	Short nose, Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Intestinal ma...	OMIM:222448
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Orofacial cleft, Bilateral single transverse palmar creases, Co...	OMIM:618804
Campomelia, Cumming Type	Hydrops fetalis, Prematurely aged appearance, Abnormal intestine morphology, Lymphedema, Bowing o...	ORPHA:1318
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus...	OMIM:142900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Abnormality of the ear, Scoliosis, Mandibular prognathia, Absent phalangeal c...	OMIM:601680
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased circulating total IgM, Sclerosing cholangitis, Increased circulating IgG level, Increas...	OMIM:243700
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Short stature, Camptodactyly of finger, Short palm, Clinodactyly, Hypoplasia of the ...	ORPHA:85279
Catel-Manzke Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Scoliosi...	ORPHA:1388
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Joint stiffness, Abnormal clavicle morphology, Short 4th metacarpal, Abn...	ORPHA:1350
Eiken Syndrome	Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib...	ORPHA:79106
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose t...	ORPHA:435651
3Mc Syndrome 2	High palate, Depressed nasal tip, Hearing impairment, Cleft upper lip, Downturned corners of mout...	OMIM:265050
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Sens...	OMIM:602152
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Micrognathia, Cleft palate, Malar flattening, Bulbous nose, Wide ...	ORPHA:93946
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Neutropenia	OMIM:616022
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus	ORPHA:436182
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to...	OMIM:102700
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx, Se...	OMIM:618724
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di...	OMIM:101800
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Thyroid hypoplasia, Broad thumb, Bifid uvula, Umbi...	ORPHA:672
Distal Deletion 10P	Hearing abnormality, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Ectop...	ORPHA:1580
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Protruding ear, Increased overbite, Abnormal nasal septum morphology, Anteve...	OMIM:619941
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Aminopterin Syndrome Sine Aminopterin	Oligodontia, High palate, Low-set ears, Umbilical hernia, Short stature, Arachnodactyly, Rudiment...	OMIM:600325
Waardenburg Syndrome Type 3	Tracheomalacia, Narrow nasal bridge, Abnormal finger morphology, Abnormality of the upper limb, S...	ORPHA:896
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Decreased fetal movement, Polyhydramnios, Abnormal foot morphology, ...	OMIM:618186
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Low-set ears, Abnormal number of incisors, Osteoporosis, Bilateral talipes equinova...	ORPHA:2958
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Anteverted...	ORPHA:2791
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco...	ORPHA:2501
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Pectus carinatum, Kyphosis, Abnormal epiphysis morphology, Aplasia/Hypoplasia of fingers, Postaxi...	ORPHA:3082
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ...	ORPHA:1826
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car...	ORPHA:71212
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Sensorineural hearing impairment, Increased level of galactitol i...	ORPHA:79237
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Obesity, Sparse body hair, Hypogonadism, Cryptorchidism, Micropenis	ORPHA:85274
Cohen Syndrome	Delayed puberty, Short metacarpal, Leukopenia, Joint hypermobility, Neutropenia, Decreased respon...	OMIM:216550
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Gorlin Syndrome	Ovarian fibroma, Arachnodactyly, Abnormality of the sense of smell, Palmar pits, Hydrocephalus, S...	ORPHA:377
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Delayed skeletal maturation, Intrauterine growth ...	ORPHA:289
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft upper lip, Micrognathia, Cleft palate	OMIM:602418
Desbuquois Dysplasia 1	Sandal gap, Disproportionate short-limb short stature, Hyperlordosis, Flat acetabular roof, Kypho...	OMIM:251450
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu...	ORPHA:45452
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Trichorhinophalangeal Syndrome Type 1	Pectus carinatum, Hyperlordosis, Short metacarpal, Long philtrum, Short distal phalanx of finger,...	ORPHA:77258
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tricuspid regurgit...	OMIM:619433
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis...	OMIM:201000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko...	OMIM:615285
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormalit...	ORPHA:2759
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l...	ORPHA:158057
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Pectus carinatum, Scoliosis, Pectus excavatum, Multipl...	OMIM:301014
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Sensorineural hearing impairment, Large iliac win...	OMIM:253220
Nemaline Myopathy 8	Polyhydramnios, Death in infancy, Decreased fetal movement, Respiratory failure, Fetal akinesia s...	OMIM:615348
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Underdeveloped nasal alae, Short metacarpal, Radial head subluxation, Metacarp...	OMIM:186400
Distal Limb Deficiencies-Micrognathia Syndrome	Sensorineural hearing impairment, Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Abnor...	ORPHA:1307
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har...	ORPHA:2521
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoraci...	ORPHA:254528
Mosaic Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Abnormal pinn...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Abnormal pinn...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Abnormal pinn...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Reduced bone mineral density, Prolonged QT interval, Abnormal pinn...	ORPHA:99413
Crandall Syndrome	Brittle hair, Hypoplasia of penis, Sensorineural hearing impairment, Abnormal testis morphology, ...	ORPHA:202
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Madelung deformity, Disproportionate short-limb short st...	DECIPHER:58
Acrootoocular Syndrome	Kyphoscoliosis, Wide nasal base, Abnormal earlobe morphology, Sandal gap, Sensorineural hearing i...	ORPHA:2980
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo...	ORPHA:15
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Dysostosis, Stanescu Type	Hyperlordosis, Pectus excavatum, Kyphosis, Tooth agenesis, Persistent open anterior fontanelle, M...	ORPHA:1798
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ...	ORPHA:354
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Microtia, second degree, Submucous cleft palate, Micrognathia, ...	OMIM:620444
Corneal Dystrophy, Gelatinous Drop-Like	Corneal dystrophy	OMIM:204870
Meier-Gorlin Syndrome 1	Breech presentation, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Microdo...	OMIM:224690
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Fraxe Intellectual Disability	Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp...	ORPHA:100973
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Finger syndactyly, Sensorineura...	ORPHA:71289
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Renpenning Syndrome	Sensorineural hearing impairment, Pectus excavatum, Round ear, Joint stiffness, Severe short stat...	ORPHA:3242
Blepharonasofacial Malformation Syndrome	Wide nose, Non-midline cleft of the upper lip, Abnormal pinna morphology, Tooth agenesis, Hearing...	ORPHA:1252
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Elevat...	OMIM:305400
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, Sensorineural hearing impairment, High palate, Low-...	OMIM:614744
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Proximal symphalangism, ...	OMIM:610017
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Umbilical hernia, Long philtrum, Adducted thumb, Anteverted nares, Scoliosis, Elbow flexion contr...	OMIM:616266
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Breech presentation, Dental crowding, Pectus excavatum, Ascites, Nonimmune hydrops ...	OMIM:620369
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Short stature, Delayed skeletal maturation, Hypoplasia of the capital femoral epiphysis, Hand mus...	OMIM:600561
Catifa Syndrome	Tooth malposition, Delayed eruption of teeth, Anteverted nares, Increased overbite, Microtia, Cle...	OMIM:618761
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Recurrent otiti...	OMIM:616222
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o...	ORPHA:261529
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Thiemann Disease	Short phalanx of finger, Broad phalanx, Avascular necrosis	OMIM:165700
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Abnormal tragus morphology, Abnormality of t...	ORPHA:2673
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Severe short stature, Acrocyanosis, Tapered finger	OMIM:302000
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Congenital Myopathy 10A, Severe Variant	Gastroesophageal reflux, Respiratory distress, High palate, Cleft palate, Dysphagia	OMIM:614399
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Protruding ear, Gastroesophageal reflux, Anteverted nares, Bilateral cleft...	OMIM:618829
Holoprosencephaly 4	Median cleft palate, Depressed nasal tip, Depressed nasal bridge, Absent nasal septal cartilage, ...	OMIM:142946
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa...	OMIM:612290
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Peroxisome Biogenesis Disorder 2A (Zellweger)	Palpebral edema, Death in childhood, Cubitus valgus, Jaundice, Single transverse palmar crease, A...	OMIM:214110
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Short stature, Hypoplasia of the maxilla, Broad nasal tip, Short di...	ORPHA:2776
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Scoliosis, Synostosis of car...	ORPHA:2307
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Keratoconus Posticus Circumscriptus	Cleft upper lip, Cleft palate	OMIM:244600
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Wiedemann-Steiner Syndrome	Delayed skeletal maturation, Accelerated skeletal maturation, Contracture of the distal interphal...	OMIM:605130
Insulinoma	Hyperinsulinemia, Hearing abnormality, Neoplasm of the adrenal gland, Increased body weight, Poly...	ORPHA:97279
Orofaciodigital Syndrome Xi	Cleft palate, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux	OMIM:612913
Acrofacial Dysostosis, Catania Type	Tessier cleft, Short nose, Abnormal palate morphology, Low-set, posteriorly rotated ears, Abnorma...	ORPHA:1786
Stickler Syndrome Type 1	Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal foot bone ossification, Abnormal hand bone ossification, Abnor...	OMIM:300244
Robinow Syndrome, Autosomal Recessive 2	Sandal gap, Prominent fingertip pads, Broad thumb, Mesomelia, Long philtrum, Clinodactyly, Triang...	OMIM:618529
Congenital Disorder Of Glycosylation, Type Iy	Widely spaced teeth, Respiratory distress, Macrotia, Micrognathia, Wide mouth, Feeding difficulties	OMIM:300934
Coffin-Siris Syndrome 1	Retrognathia, Duodenal ulcer, Sandal gap, Dislocated radial head, Abnormal pinna morphology, Prom...	OMIM:135900
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Sensorineural hearing impairment, Narrow mouth, Depressed n...	ORPHA:1529
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea...	OMIM:185800
Joubert Syndrome 26	Anteverted nares, Cleft lip, Cleft palate, Recurrent upper respiratory tract infections	OMIM:616784
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Treacher-Collins Syndrome	Retrognathia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Choa...	ORPHA:861
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality...	ORPHA:2010
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal fibula morphology, Abnormal palate morphology, Short metatarsal, 2-3...	ORPHA:1540
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Delayed skeletal matura...	OMIM:608739
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac...	OMIM:208150
Long Qt Syndrome 3	Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib...	OMIM:603830
Gm1 Gangliosidosis Type 1	Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie...	ORPHA:79255
Auriculocondylar Syndrome	Dental crowding, Mandibular condyle hypoplasia, Abnormal pinna morphology, Glossoptosis, Bifid uv...	ORPHA:137888
Orofaciodigital Syndrome Xvii	Retrognathia, High, narrow palate, Low-set ears, Hearing impairment, Prominent nose, Median cleft...	OMIM:617926
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Cog1-Cdg	Kyphoscoliosis, Microtia, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butte...	ORPHA:263508
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Pes cavus, Carpal osteolysis, ...	OMIM:166300
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Dental crowding, Hyperinsulinemia, Short phalanx of finger, Acroosteolysis of...	OMIM:608612
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Midline facial cleft, Bifid nasal tip, Low-set ears, Cleft upper lip,...	OMIM:603671
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ...	OMIM:182255
Tetrasomy 5P	Pectus excavatum, Heart murmur, Long philtrum, Overlapping toe, Hydrocephalus, Anteverted nares, ...	ORPHA:3309
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Sensorineural hearing impairment, Short middle phalanx of the 4th finger...	OMIM:616738
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Death in childhood, Decreased fetal movement	OMIM:253300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Sensorineural hearing impairment, Mandibular p...	OMIM:239300
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Retrognathia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bila...	OMIM:618022
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Moynahan Syndrome	Cachexia, Sensorineural hearing impairment, Hypogonadism, Sparse hair, Alopecia	ORPHA:2574
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:603909
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Sensorineural hearing impairment, Anosmia, Choanal atresia, Tooth agenesis, Cleft upper...	OMIM:147950
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Long eyebrows, Long eyelashes, Cryptorchidism, Sparse hair, Central heteroch...	OMIM:275400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia, Hearing impairment, Cleft upper lip, Cleft palate	OMIM:244200
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Abnormal temper tantrums, Childhood onset sensorineural hearing imp...	ORPHA:251061
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp...	OMIM:615546
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Increased size of the mandible, Congenital s...	OMIM:300048
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Broad alveolar ridges, M...	OMIM:216340
Diastrophic Dysplasia	Kyphoscoliosis, Cystic lesions of the pinnae, Disproportionate short-limb short stature, Short lo...	OMIM:222600
Acquired Partial Lipodystrophy	Lipoatrophy, Lymphocytosis, Hearing impairment, Insulin resistance, Hepatic steatosis	ORPHA:79087
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft lip, Cleft palate, Broad nasal tip	OMIM:300263
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari...	ORPHA:2662
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Triangular mouth, Delayed epip...	ORPHA:166024
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea	OMIM:617272
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Disproportionate short-limb short stature, Pectus carinatum, Osteop...	OMIM:609052
Blount Disease, Adolescent	Osteochondritis dissecans, Bowing of the legs, Genu varum	OMIM:259200
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Hennekam Syndrome	Retrognathia, Abnormal pinna morphology, Ascites, Tooth agenesis, Lymphangioma, Splenomegaly, Lym...	ORPHA:2136
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Long clavicles, Polyhydramnios, Bell-shaped thorax, Anteverted nare...	OMIM:608149
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ...	ORPHA:166002
16P11.2P12.2 Microduplication Syndrome	Attention deficit hyperactivity disorder, Cleft palate	ORPHA:261204
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Rubinstein-Taybi Syndrome 2	Retrognathia, Prominent fingertip pads, Broad thumb, Intestinal malrotation, Syndactyly, Narrow p...	OMIM:613684
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ...	OMIM:255800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Polyhydramnios, Clinodactyly of the 5th finger, Tapered toe, Vascular skin abnormal...	ORPHA:544488
Nager Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip...	ORPHA:245
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Pterygium, Ant...	ORPHA:93329
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnorm...	ORPHA:2972
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Respiratory distress, Sensorineural hearing impairment, Microtia, Steno...	OMIM:606164
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Decreased testicular size, Obesity, Hypogonadism	OMIM:614962
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal form of the vertebral bodies,...	ORPHA:3098
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Premature ovarian insufficiency, Recurrent otitis media, Thin nail, Absent eyelas...	OMIM:618625
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Stenosis of the ...	OMIM:602483
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica	OMIM:617270
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Cleft palate, Conductive hearing impairment	OMIM:601076
Larsen-Like Syndrome	Kyphoscoliosis, Recurrent otitis media, Clinodactyly of the 5th finger, Joint dislocation, Wide a...	OMIM:608545
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Short philtrum, Cleft soft palate, Prominent nasal tip, Underdeveloped antitragus, ...	ORPHA:293725
Ear-Patella-Short Stature Syndrome	Retrognathia, Delayed skeletal maturation, Bifid uvula, Severe short stature, Intrauterine growth...	ORPHA:2554
Autosomal Recessive Hypophosphatemic Rickets	Polyarticular arthritis, Sensorineural hearing impairment, Tibial bowing, Craniosynostosis, Genu ...	ORPHA:289176
Lowry-Maclean Syndrome	Convex nasal ridge, Cleft palate, Delayed eruption of teeth	OMIM:600252
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	OMIM:194190
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Single umbilical artery, Disproportionate short-limb short stature, Pter...	OMIM:224410
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae...	OMIM:212780
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperac...	OMIM:182290
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hearing...	ORPHA:99886
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Shallow anterior chamber, L...	OMIM:221900
Mehmo Syndrome	Agitation, Cryptorchidism, Obesity, Large earlobe, EEG abnormality, Diabetes mellitus	ORPHA:85282
Brittle Cornea Syndrome 1	Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus	OMIM:229200
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Short long bone, Short ribs, Severe short stature, Adducted thumb, ...	OMIM:224400
Hyperekplexia 4	Kyphoscoliosis, High palate, Camptodactyly, Respiratory failure, Distal arthrogryposis, Flexion c...	OMIM:618011
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Mesomelic short stature, Microdontia, Micromelia, Short stature...	ORPHA:1765
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate, Death in infancy	OMIM:258320
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Decreased tes...	ORPHA:3085
Nemaline Myopathy 9	Micrognathia, Cleft palate, High palate	OMIM:615731
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Sensorineural hearing impairment, Short ...	ORPHA:192
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Broad nasal tip, Neonatal death...	OMIM:615524
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ...	OMIM:605274
Acrocephalopolydactyly	Short nose, Genu recurvatum, Microtia, Short long bone, Depressed nasal ridge, Limb undergrowth, ...	ORPHA:221054
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion...	OMIM:612292
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac...	OMIM:182212
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cutaneous photosensitivity, Low-set ears, Micrognathia, Cleft palate, Decreas...	OMIM:616570
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Chronic co...	OMIM:300676
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy...	OMIM:169550
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pect...	ORPHA:193
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop...	ORPHA:3201
Microcephaly-Micromelia Syndrome	Oligodactyly, Absent thumb, Absent radius, Craniosynostosis, Intrauterine growth retardation, Oli...	OMIM:251230
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat...	OMIM:300755
Radio-Renal Syndrome	Convex nasal ridge, Hypoplasia of the radius, Retrognathia, High, narrow palate, Abnormal form of...	ORPHA:3015
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D...	OMIM:275350
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Overhanging nasal tip, Postaxial polydactyly, Hypopla...	OMIM:619142
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased...	OMIM:209950
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary...	ORPHA:2414
Opticocochleodentate Degeneration	Hearing impairment, Cochlear degeneration	OMIM:258700
Ovarian Fibroma	Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Pleural effusion, Abno...	ORPHA:314473
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Bilateral cleft palate, Depressed nasal ridge, Tooth agenesis...	ORPHA:2003
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, High palate, Death in infancy, Micrognathia, Feeding difficulties, Thin upp...	OMIM:615042
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing...	OMIM:101600
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Pectus excavatum, Cochlear malformation, Premature birth, C...	ORPHA:96148
Chromosome 22Q11.2 Deletion Syndrome, Distal	Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion, Underdeveloped nasal alae	OMIM:611867
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Broad palm, ...	OMIM:300232
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Sensorineural hearing impairment, Scoliosis, Pyloric stenosis, Con...	ORPHA:261197
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly...	ORPHA:221139
Blue Cone Monochromatism	Corneal dystrophy	ORPHA:16
Cooper-Jabs Syndrome	Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Low-set,...	ORPHA:1488
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival hyperkeratosis, Everted lower lip vermilion, Premature birth, Blepharochalasis, Umbilica...	OMIM:225410
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, High palate, Compulsive behaviors, Low-set ears, Cleft palate, Malar fla...	OMIM:620021
Intellectual Developmental Disorder, Autosomal Recessive 44	Thin vermilion border, Anteverted nares, Bifid uvula, Long philtrum, Depressed nasal bridge	OMIM:615942
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp...	OMIM:601390
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:169160
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc...	OMIM:603552
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Short nose, Death in childhood, Lumbar platyspondyly, Narrow chest, ...	OMIM:618961
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Joint hypermobility, Scoliosis, Short long bone, Glossoptosis, Sho...	OMIM:620269
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Retrognathia, Short philtrum, Low-set ears, Hypertrophic cardiomyopathy...	ORPHA:1194
Cutis Laxa, Autosomal Recessive, Type Iie	Pectus excavatum, Syndactyly, Joint hypermobility, Long philtrum, Craniosynostosis, Genu varum, H...	OMIM:619451
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Hypertension, Pectus excavatum, Everted lower lip vermilion, Microdonti...	OMIM:613610
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormal antihelix morphology, Abnorm...	ORPHA:178303
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Acromesomelic Dysplasia 2A	Disproportionate short-limb short stature, Acromesomelia, Death in infancy, Short humerus, Aplasi...	OMIM:200700
Atelosteogenesis Type I	Short long bone, Thoracic hypoplasia, Malrotation of colon, Abnormal fibula morphology, Rhizomeli...	ORPHA:1190
Craniometadiaphyseal Dysplasia	Dental crowding, Microdontia, Coxa valga, Broad ribs, Genu varum, Absent paranasal sinuses, Scoli...	OMIM:269300
Restrictive Dermopathy 2	Fetal distress, Rectal prolapse, Short clavicles, Overtubulated long bones, Hypoplastic facial bo...	OMIM:619793
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Hepatomegaly, Med...	OMIM:615559
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Premature graying of hair, Retrognathia, Decreased cirrculating antimullerian hormone circulation...	OMIM:300845
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Bulbous nose, Cupped ear	ORPHA:93945
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Megaloblastic anemia, Abnorm...	OMIM:598500
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Delayed skeletal maturation, Synda...	OMIM:148050
Zttk Syndrome	Breech presentation, Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Intrauterine grow...	OMIM:617140
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Abnormal metacarpal morphology, Abnormal form of the vertebral bodies...	ORPHA:93262
Wolf-Hirschhorn Syndrome	Chronic otitis media, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Microtia, K...	ORPHA:280
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Low-set ears, Cleft upper lip, Cleft palate, Tented upper lip vermilion,...	OMIM:600987
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ...	OMIM:300554
Hartsfield Syndrome	Non-midline cleft of the upper lip, Cleft palate, Low-set, posteriorly rotated ears, Depressed na...	ORPHA:2117
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure...	ORPHA:132
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Asymmetry of the thorax, Hyperlordosis, Large iliac wing, Aortic valve stenosis, Hi...	ORPHA:2780
Pyle Disease	Limited elbow extension, Genu valgum, Cubitus valgus, Reduced bone mineral density, Delayed erupt...	OMIM:265900
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segment...	ORPHA:1797
Hydrops Fetalis	Polyhydramnios, Capillary leak, Miscarriage, Lymphedema, Pleural effusion, Ascites, Twin-to-twin ...	ORPHA:1041
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Lon...	ORPHA:166100
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Immunodeficiency 53	Failure to thrive, Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglut...	OMIM:617585
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Proport...	ORPHA:528
Bone Dysplasia, Lethal Holmgren Type	Abnormal femur morphology, Short ribs, Abnormal epiphysis morphology, Joint hypermobility, Abnorm...	ORPHA:1842
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Wide anterior fontane...	OMIM:113000
Perlman Syndrome	Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Low-...	ORPHA:2849
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Mody	Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Ab...	ORPHA:552
Hypertension And Brachydactyly Syndrome	Type E brachydactyly, Hypertension, Short metacarpal, Short stature, Short phalanx of finger, Con...	OMIM:112410
Deafness, Autosomal Dominant 9	Postlingual sensorineural hearing impairment, Cochlear degeneration, Tinnitus, Vertigo	OMIM:601369
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin vermilion border, Short philtrum, Mandibular prognathia, Death in infancy, Bifid uvula, Deep...	OMIM:618622
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sho...	ORPHA:88630
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Decreased serum le...	OMIM:608594
Orofaciodigital Syndrome Ix	Bifid nasal tip, High palate, Abnormality of the dentition, Cleft palate, Broad nasal tip, Access...	OMIM:258865
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Radial club hand, Proptosis, Premature birth, Abnormal morphology of the radius, Hypert...	ORPHA:2165
Cataract 47	Cataract, Microcornea	OMIM:612018
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:613835
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Pes cavus, Low-set, posteriorly rotated ears, Sanda...	ORPHA:3447
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Macrotia, Reduced social reciprocity, Stereotypical hand wringing, Self-injurious behavior	ORPHA:397933
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Low-set ears, Hypoplas...	OMIM:617895
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal number of permanent teeth, Abnormal earlobe ...	ORPHA:3310
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Low-set ears, Posteriorly rotated ears, Recurrent hand flapping, Delayed early-childhood social m...	OMIM:618147
Zechi-Ceide Syndrome	Thin vermilion border, Abnormal earlobe morphology, Short philtrum, Wide nose, Stenosis of the ex...	ORPHA:217017
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Microtia, Short humerus, Upper limb phocomelia, Long philtrum, Hypoplasia of the ulna, Abnormal n...	ORPHA:2878
Opsismodysplasia	Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa...	OMIM:258480
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth	OMIM:217150
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Cleft palate	ORPHA:398189
Oculoauriculofrontonasal Syndrome	Wide nose, Microtia, Bifid nasal tip, Narrow mouth, Conductive hearing impairment, Micrognathia, ...	ORPHA:398156
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ...	ORPHA:2636
Aase-Smith Syndrome	Abnormal hip bone morphology, Scoliosis, Abnormal pinna morphology, Slender finger, Joint stiffne...	ORPHA:916
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg...	ORPHA:2919
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Polyhydramnios, Congestive heart failure, Decreased fetal movement	OMIM:616794
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Intestinal malrotation, Cutis marmorata, Syndactyly, Enamel agenesis, Long phil...	OMIM:614701
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Joint hypermobility, Clinodactyly of the 5th finger, Short stature	ORPHA:238446
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ...	ORPHA:794
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Mandibular prognathia, Hearing impairment, Cleft upper lip, Cl...	ORPHA:894
Tibial Torsion, Bilateral Medial	Scoliosis, Bowing of the legs, Tibial torsion	OMIM:188800
Traboulsi Syndrome	Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo...	OMIM:601552
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Hearing impairment, Sparse body hair, Melanocytic...	ORPHA:1008
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Sensorineural hearing impairment, Loss of subcutaneous a...	OMIM:615381
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Low-set ears, Bilateral cleft lip	OMIM:616994
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb...	OMIM:253000
3Mc Syndrome 3	Tessier cleft, Abnormal pinna morphology, Auricular pit, Hearing impairment, Cleft upper lip, Cle...	OMIM:248340
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly	ORPHA:100025
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Distal Monosomy 7Q36	Non-midline cleft of the upper lip, Macrotia, Micrognathia, Cleft palate, Wide mouth, Bulbous nose	ORPHA:1636
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Wide nose, Anteverted nares, Sensorineural hearing impairment, Short metaca...	OMIM:600430
Leptin Receptor Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,...	OMIM:614963
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate...	OMIM:616516
Braddock-Carey Syndrome 2	Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ...	OMIM:619981
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Death in infancy, Dilated cardiomyopat...	OMIM:618815
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Protruding ear, Bulbous nose,...	OMIM:618737
Adducted Thumbs Syndrome	High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Dysphagia	OMIM:201550
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Rectovaginal fistula, Low-set ears, Choanal atresia, Anal atresia, Intestin...	OMIM:270420
Fibrochondrogenesis 2	Short nose, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Sh...	OMIM:614524
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat...	ORPHA:582
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad clavicles, Broad alveolar ridges, Short long bone, Pectus excavatum, Kyphos...	OMIM:249420
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Abnormal pinna morphology, Cardiomyopathy,...	ORPHA:158687
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh...	ORPHA:1354
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, EEG abnormality, Increa...	OMIM:608636
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Microtia, Short long bone, Flat acetabular roof, Short ribs, Hypertension, Hypoplastic ischia, Il...	OMIM:613320
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Low-set ears, Macrotia, Failure to thrive, Posteriorly rotated ears, Motor stereot...	OMIM:609425
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic st...	OMIM:614480
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Hypophosphatasia, Childhood	Short stature, Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis,...	OMIM:241510
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology	ORPHA:85203
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t...	ORPHA:246
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Motor stereotypy, Aggressive behavior	OMIM:617171
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod...	ORPHA:85165
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Agitation, Hyperinsulinemia, Hypophosphatemic r...	ORPHA:263455
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Hearing impairment, Brachydactyly	ORPHA:35099
Hypochondroplasia	Limited elbow extension, Disproportionate short-limb short stature, Flared metaphysis, Short long...	OMIM:146000
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Severe short stature, Long phi...	ORPHA:2215
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, 11 pairs of ribs, Platyspondyly, Metaphyseal cupping, Hypoplastic iliac w...	OMIM:300863
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Diamond-Blackfan Anemia 6	Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Cleft palate	OMIM:612561
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted...	OMIM:253010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Postaxial hand polydactyly, Syndactyly	OMIM:615938
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram...	OMIM:151660
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate, Choanal atresia	ORPHA:1226
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Protruding ear, Tarsal synostosis, Abnormal hip bone ...	ORPHA:1147
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
Acrocapitofemoral Dysplasia	Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ...	ORPHA:63446
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Thin clavicles, Calvarial osteosclerosis, Congenital hypoparathyroi...	ORPHA:93324
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Hypertension,...	OMIM:266920
Intellectual Disability, Birk-Barel Type	High, narrow palate, Protruding ear, Short philtrum, Narrow nasal bridge, Nasogastric tube feedin...	ORPHA:166108
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Decreased testicular size, Sparse pubic hair, Sparse axillary hair, Primary amenorrh...	OMIM:146110
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear, Cleft palate	OMIM:302905
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarp...	ORPHA:221016
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate, Bilateral conductiv...	OMIM:216300
Fountain Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Pectus excavatum, Everte...	ORPHA:3219
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Depressed nasal ridge, Cleft upper lip, Micrognathia, Cleft palate	OMIM:312150
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Developmental And Epileptic Encephalopathy 30	Death in infancy, Feeding difficulties, Motor stereotypy, Respiratory distress	OMIM:616341
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Sensorineural hearing impairment, Cleft lip, Cleft palate, Anosmia	OMIM:612370
Spastic Paraplegia 81, Autosomal Recessive	Sensorineural hearing impairment, Bifid uvula, Cleft palate	OMIM:618768
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hypertension, Aort...	OMIM:139210
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st...	ORPHA:2462
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Disproportionate short-limb short stature, Pectus excavatum, Short statu...	ORPHA:156728
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Protruding ear, Abnormality of the philtrum, Low-set ears, Microdontia, Cleft upper lip, Microgna...	OMIM:225060
Aicardi Syndrome	Delayed puberty, Butterfly vertebrae, Intestinal polyposis, Short philtrum, Scoliosis, Missing ri...	ORPHA:50
Congenital Myopathy 14	Decreased fetal movement, Polyhydramnios, Elbow flexion contracture, High palate, Death in infanc...	OMIM:618414
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Poor suck, High palate, Nasogastric tube feeding in infancy, Macroglossia	ORPHA:254864
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Short philtrum, Anteverted nares, Microtia, High palate, Low-set ears, Cleft...	OMIM:612530
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Ectop...	ORPHA:2994
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly,...	OMIM:269700
Rapp-Hodgkin Syndrome	Recurrent otitis media, Conical tooth, Hypodontia, Stenosis of the external auditory canal, Narro...	OMIM:129400
C Syndrome	Radial deviation of finger, Dislocated radial head, Short metacarpal, Delayed skeletal maturation...	OMIM:211750
Diaphanospondylodysostosis	Cleft palate, Respiratory distress	ORPHA:66637
16P13.11 Microdeletion Syndrome	Short nose, Gastroesophageal reflux, Anteverted nares, Sensorineural hearing impairment, Exaggera...	ORPHA:261236
Aicardi Syndrome	Postnatal growth retardation, Butterfly vertebrae, Proximal placement of thumb, Anteverted nares,...	OMIM:304050
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Short stature, Conducti...	OMIM:132450
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pectus excavatum, Short distal phalanx of finger, Talipes calcaneovarus, Furrowed tongue, Short s...	OMIM:300534
Schizophrenia 15	Hyperactivity	OMIM:613950
Hernández-Aguirre Negrete Syndrome	Delayed puberty, Obesity, EEG abnormality, Low-set, posteriorly rotated ears	ORPHA:2139
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Sensorineural hearing impairment, Bifid nasal tip, Fle...	ORPHA:2712
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A...	ORPHA:103907
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho...	OMIM:609734
Ritscher-Schinzel Syndrome 1	Single umbilical artery, Decreased response to growth hormone stimulation test, Hydrocephalus, He...	OMIM:220210
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Ectopic anus, Cleft palate	ORPHA:2476
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Overfolded helix, Feeding difficulties	ORPHA:209908
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Sclerosteosis	Diaphyseal undertubulation, Abnormality of the nose, Abnormal cortical bone morphology, Craniofac...	ORPHA:3152
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Hemangiomatosis, Hydrops fetalis, Hepatomegaly, Ascites, Visceral angiomatosis	ORPHA:2123
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Meier-Gorlin Syndrome 5	Long philtrum, Slender long bone, Small earlobe, Microtia, Low-set ears, Prominent metopic ridge,...	OMIM:613805
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ...	ORPHA:79345
Congenital Velopharyngeal Incompetence	Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Single transverse palm...	OMIM:201170
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Sensorineural hearing impairment, Delayed skeletal maturation, Cutis marmorata, ...	OMIM:151050
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Severe postnatal growth retardation, Thoracic kyphoscoliosis, Short middle phalanx of the 5th fin...	OMIM:203550
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ...	OMIM:147891
Codas Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon...	OMIM:600373
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Retrognathia, Cardiomyopathy, Everted lower lip vermilion...	OMIM:300280
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Low-set ears,...	OMIM:617412
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Abnormality of the inner ear, Non-midline cleft of the up...	ORPHA:2549
Dermatitis, Atopic	Cataract, Keratoconus, Conjunctivitis	OMIM:603165
Antley-Bixler Syndrome	Short nose, Talipes, Low-set, posteriorly rotated ears, Narrow chest, Anteverted nares, Delayed c...	ORPHA:83
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Narrow chest, Short philtrum, Conical tooth, Mandibu...	OMIM:619143
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Combined Oxidative Phosphorylation Deficiency 51	Growth delay, Caesarian section, Severe short stature, Intrauterine growth retardation, Respirato...	OMIM:619057
Isotretinoin Syndrome	Microtia, Micrognathia, Cleft palate, Abnormality of the outer ear, Depressed nasal bridge	ORPHA:2305
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Narrow chest, Vertebral compression fracture, Angulated hu...	OMIM:616229
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Anauxetic Dysplasia 3	Retrognathia, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Severe short stat...	OMIM:618853
Usher Syndrome Type 1	Vestibular hypofunction, Depression, Sensorineural hearing impairment, Abnormal cochlea morpholog...	ORPHA:231169
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, Long phil...	OMIM:117650
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Hypoplasia of the ovary, Low insertion ...	ORPHA:79328
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p...	ORPHA:42665
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ...	OMIM:617294
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Hypoplastic nasal tip, Recurrent otitis media, Clubbing of fingers, Single transverse p...	ORPHA:3304
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Hypodontia, Short middle phal...	ORPHA:63442
Hyperlipoproteinemia, Type Ii, And Deafness	Hearing impairment, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglycer...	OMIM:144300
Teebi Hypertelorism Syndrome 2	Short nose, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Hea...	OMIM:619736
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Trisomy 8Q	Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, High pala...	ORPHA:1752
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormality of the wrist, Abnormal vertebral morpholog...	ORPHA:2319
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Vertebral Hypersegmentation And Orofacial Anomalies	Darwin tubercle of helix, Anteverted nares, Unilateral cleft palate, Micrognathia, Unilateral cle...	OMIM:619122
Fetal Alcohol Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Non-midline cleft of the upper l...	ORPHA:1915
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Flexion contracture of toe, Death in adolescence, Recurrent sinusitis,...	OMIM:256040
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Pectus carinatum, High palate, Broad thumb, Macrotia, Micrognathia, Long hallux, Prom...	OMIM:620194
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Micrognathia, Cleft palate	ORPHA:1779
Dent Disease 1	Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ...	OMIM:300009
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Hyperlordosis, Limited sh...	OMIM:615065
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Pectus carinatum, Thoracic kyphoscoliosis, Increased laxity of ankles, Broad thumb, Arachnodactyl...	ORPHA:481152
Smith-Magenis Syndrome	Chronic otitis media, Short nose, Short philtrum, Gastroesophageal reflux, Anteverted nares, Mand...	ORPHA:819
Brachydactyly-Arterial Hypertension Syndrome	Hypertension, Short metacarpal, Short stature, Short phalanx of finger, Brachydactyly	ORPHA:1276
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Familial Visceral Myopathy	Abdominal distention, Aganglionic megacolon, Low-set, posteriorly rotated ears, Anteverted nares,...	ORPHA:2604
Mehmo Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Macrotia, Obesity, Hypogl...	OMIM:300148
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short...	ORPHA:93296
Cleft Palate-Large Ears-Small Head Syndrome	Protruding ear, Gingival overgrowth, Pectus excavatum, Short stature, Delayed skeletal maturation...	ORPHA:2013
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Retrognathia, Sensorineural hearing impairment, Pectus excavatum, Everted lower l...	OMIM:612513
Noonan Syndrome	Pectus carinatum, Sensorineural hearing impairment, Enlarged thorax, Pectus excavatum, Delayed sk...	ORPHA:648
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, Cleft palate, Feeding difficulties, Long philtrum, Bulbous nose, T...	OMIM:617976
Cardiospondylocarpofacial Syndrome	Hypoplastic nasal tip, Delayed skeletal maturation, Wide mouth, Congenital sensorineural hearing ...	OMIM:157800
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Long philtrum, Adducted thumb, Scoliosis, Ulnar deviation of the hand or of finge...	ORPHA:562528
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Kyphosis, Joint stiffness, Intrauterine growth retarda...	ORPHA:2655
Sialidosis Type 2	Hydrops fetalis, Short thorax, Pectus carinatum, Ascites, Osteoporosis, Kyphosis, Short stature, ...	ORPHA:87876
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Protruding ear, Hearing abnormality, Abnormality of the dentition, Pe...	ORPHA:3270
Meckel Syndrome 14	Retrognathia, Occipital encephalocele, Talipes, Low-set ears, Anteverted nares, Postaxial hand po...	OMIM:619879
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hearing impairment, Obesity, Aggressive behavior	OMIM:620270
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol...	ORPHA:85184
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Sensorineural hearing impair...	ORPHA:949
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula, Recurrent otitis media, Depressed nasal bridge	OMIM:601492
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Pectus excavatum, Kyphosis, Persistent...	OMIM:304150
Athyreosis	Constipation, Abdominal distention, Macroglossia, Feeding difficulties	ORPHA:95713
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Gastroesophageal reflux, Anteve...	OMIM:300000
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Congenital Vertical Talus	Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Myelo...	ORPHA:178382
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le...	OMIM:620603
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen...	ORPHA:37553
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Failure to thrive, Sparse body hair, Hypogonadism, Cryptorchidism, Tru...	ORPHA:261483
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Abnormal cortical bone morphology, Abnormal hip bone morphology, Low-set, posteri...	ORPHA:1486
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S...	OMIM:618167
Alfadhel Syndrome	Thin vermilion border, Retrognathia, Short philtrum, Low-set ears, Nasal flaring, Smooth philtrum...	OMIM:620655
Baraitser-Winter Syndrome 1	Short nose, Orofacial cleft, Retrognathia, Anteverted nares, Sensorineural hearing impairment, Ov...	OMIM:243310
Craniofrontonasal Dysplasia	Sandal gap, Sensorineural hearing impairment, Pectus excavatum, Joint hypermobility, Craniosynost...	ORPHA:1520
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Breast hypoplasia, Thick lower lip vermilion, Slender long bone, Genu recu...	OMIM:613804
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Myhre Syndrome	Gingival cleft, Hypertension, Large iliac wing, Joint stiffness, Bifid uvula, Severe short statur...	ORPHA:2588
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Convex nasal ridge, Fused cervical vertebrae, Abnormal hip bone mor...	ORPHA:2522
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Retrognathia, Long nose, Microtia, Hyperlordosis, Eve...	OMIM:620450
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Arthrogryposis Multiplex Congenita 6	Adducted thumb, Polyhydramnios, Death in childhood, Death in infancy, Neonatal death, Decreased f...	OMIM:619334
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Hepatomegaly, Ascites	ORPHA:2198
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ...	ORPHA:3320
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Hemivertebrae, Vertebral segmentation defect, Death in infancy, Short stature, Bl...	OMIM:277300
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Protruding ear, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots,...	ORPHA:1809
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Protein-losing enteropathy, High palate, Low-set ears, Hepatic failure, Dea...	OMIM:235255
Omodysplasia 2	Recurrent otitis media, Gastroesophageal reflux, Bifid nasal tip, Overfolded helix, Bilateral cle...	OMIM:164745
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Incr...	OMIM:610600
Stickler Syndrome, Type I	Sensorineural hearing impairment, Pectus excavatum, Kyphosis, Joint stiffness, Arachnodactyly, Bi...	OMIM:108300
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Hypertriglyceridemia	OMIM:615924
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Disproportionate short-limb short stature, Mesome...	ORPHA:2632
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Low-set, posteriorly rotated ears, Hypoplasia of the frontal bone, Hypoplasia of t...	ORPHA:306542
Sweeney-Cox Syndrome	Microtia, Short distal phalanx of finger, Short philtrum, Choanal atresia, Asplenia, Hearing impa...	OMIM:617746
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Three M Syndrome 1	Short ribs, Hyperlordosis, Pectus excavatum, Hypoplastic pelvis, Delayed skeletal maturation, Lon...	OMIM:273750
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
2Q32Q33 Microdeletion Syndrome	Thin vermilion border, Anteverted nares, Dental crowding, Oligodontia, High palate, Narrow mouth,...	ORPHA:251019
Bartsocas-Papas Syndrome	Short nose, Underdeveloped nasal alae, Narrow mouth, Micrognathia, Cleft palate, Median cleft upp...	ORPHA:1234
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Barrel-shaped chest, Platyspondyly, Mandibular pro...	OMIM:612813
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Bil...	ORPHA:73272
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Butterfly vertebrae, Pectus carinatum, 2-3 toe syndactyly, Thoracic kyphoscoliosis...	ORPHA:313892
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Mesoaxial foot polydactyly, Sym...	ORPHA:46627
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv...	OMIM:616300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pectus carinatum, Sensorineural hearing impairment, Broad thumb, Pulmonic steno...	OMIM:612541
Ascites, Chylous	Chylous ascites	OMIM:208300
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Underdeveloped tragus, Hypopla...	OMIM:610829
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Sparse hair, Hypogonadism, Cryptorchidism, Micropenis, Small for gestational age,...	ORPHA:3363
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin...	OMIM:263520
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,...	OMIM:611263
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long nose, Dental crowding, Delaye...	OMIM:257850
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Pectus carinatum, Pectus excavatum, Con...	OMIM:615582
Dubowitz Syndrome	Sandal gap, Pectus excavatum, Broad thumb, Delayed skeletal maturation, Cutis marmorata, Wide mou...	ORPHA:235
Alg8-Cdg	Hydrops fetalis, Anemia, Premature skin wrinkling, Low-set ears, Ascites, Camptodactyly, Prematur...	ORPHA:79325
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Dental crowding, Pectus excavatum, Broad thumb, Arachnodactyly, Joint hypermobility, N...	OMIM:309520
Temple Syndrome	Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T...	ORPHA:254516
Seckel Syndrome 5	Retrognathia, Clinodactyly of the 5th finger, 11 pairs of ribs, Oligodontia, Selective tooth agen...	OMIM:613823
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysm...	OMIM:618718
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence	OMIM:300717
Larsen Syndrome	Multiple carpal ossification centers, Pectus carinatum, Knee dislocation, Short metacarpal, Pectu...	OMIM:150250
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hype...	ORPHA:79083
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Respiratory distress, Macrotia, Micrognathia, Feeding diff...	ORPHA:261304
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Hearing impairment, Cleft upper lip, Cleft palate, Malar flattening	OMIM:268850
Saul-Wilson Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Sensorineural hearing impai...	OMIM:618150
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Fetal distress, Genu recurvatum, Anteverted nares, Elbow flexion contracture, Low-s...	OMIM:617301
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ...	OMIM:271510
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Polyhydramnios, Talipes, Low-set, posteriorly rotated ears, Encephalocele, Hydro...	ORPHA:2166
Stickler Syndrome, Type Ii	High, narrow palate, Anteverted nares, Sensorineural hearing impairment, Tympanic membrane hyperm...	OMIM:604841
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal femur morphology, Abnormal bone ossification, Abnormality ...	ORPHA:166119
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Ataxia, Abnormality of the parat...	ORPHA:1227
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Pulmo...	OMIM:619751
Satb2-Associated Syndrome Due To A Pathogenic Variant	Gastroesophageal reflux, High palate, Abnormality of the dentition, Celiac disease, Feeding diffi...	ORPHA:576283
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Ante...	OMIM:616894
Blepharocheilodontic Syndrome 1	Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia	OMIM:119580
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Low-set ears, Protruding ear, Bulbous nose, Agenesis of l...	OMIM:616788
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Epiphyseal stippling, Anteverted nares, Scoliosis, Stippled calcification...	OMIM:222765
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Meier-Gorlin Syndrome 3	Absent sternal ossification, Microtia, Short ribs, Delayed skeletal maturation, Intrauterine grow...	OMIM:613803
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Agnathia-Otocephaly Complex	Respiratory distress, Synotia, Narrow mouth, Mandibular aplasia, Low-set ears, Conductive hearing...	OMIM:202650
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Low-set ears, Overfolded helix, Micrognathia, Accessory oral frenulum, Bi...	OMIM:619339
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Protruding ear, Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the den...	ORPHA:3253
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp...	ORPHA:1808
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Finger syndactyly, Aplasia of th...	ORPHA:2256
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short...	OMIM:277590
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Distal Xq28 Microduplication Syndrome	Absent antihelix, Thick lower lip vermilion, Predominantly lower limb lymphedema, Dental crowding...	ORPHA:293939
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Flat ace...	OMIM:608728
Woolly Hair Nevus	Widely-spaced incisors, Enlarged vestibular aqueduct	ORPHA:79414
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb...	ORPHA:1825
Autosomal Recessive Amelia	Orofacial cleft, Micrognathia, Non-midline cleft of the upper lip	ORPHA:1027
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap...	ORPHA:397973
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Usher Syndrome Type 3	Depression, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Cornelia De Lange Syndrome 6	Long philtrum, Short nose, Macrotia, Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis,...	OMIM:620568
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Bradycardia, Abnormal pinna morphology, Pectus excavatum, Arachnodactyly, Joint hyp...	OMIM:614437
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Breech presentation, Sensorineural hearing impairment, Short long bone, Hyperlordosis, Metaphysea...	OMIM:616007
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Pes cavus, Widely spaced teeth, Thoracic kyphosis, Overfolded helix, Pectus excavat...	OMIM:619092
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia	OMIM:617732
Multiple Pterygium Syndrome, Lethal Type	Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Depr...	OMIM:253290
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P...	OMIM:617927
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Mosaic Trisomy 8	Deep plantar creases, Abnormal pinna morphology, Deep palmar crease, Anteverted nares, Scoliosis,...	ORPHA:96061
Kbg Syndrome	Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Long philtrum, A...	ORPHA:2332
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Disproportionate short-limb short stature, Pectus carinatum, Recurrent fractures, ...	OMIM:259440
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia,...	OMIM:253200
Cree Mental Retardation Syndrome	Rocker bottom foot, Cleft soft palate, Low-set ears, Pectus excavatum, Cutaneous finger syndactyl...	OMIM:606851
Coffin-Siris Syndrome 8	Hyperactivity, Sparse scalp hair, Long eyelashes, Failure to thrive, Thick eyebrow, Self-injuriou...	OMIM:618362
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Short st...	ORPHA:988
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Short s...	OMIM:614886
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu...	ORPHA:2348
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle...	OMIM:609166
Seckel Syndrome 1	Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Dental cr...	OMIM:210600
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Cutis marmorata, Hypogonadism, Long philtrum, Antevert...	OMIM:300882
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Poland Syndrome	Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab...	ORPHA:2911
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Hydrops fetalis, Abnormal hip b...	ORPHA:584
Deafness-Hypogonadism Syndrome	Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im...	ORPHA:90646
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly...	ORPHA:1788
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Periosteal thickening of lon...	OMIM:114000
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Rapadilino Syndrome	High, narrow palate, Slender nose, Diarrhea, High palate, Hearing impairment, Cleft palate, Feedi...	OMIM:266280
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Sclerosing cholangitis, Neut...	ORPHA:572
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pectus excavatum, Everted lower lip vermilion, Cerebral edema, Narrow palate, Hydrops fetalis, Sp...	OMIM:620371
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ...	ORPHA:93308
Recombinant 8 Syndrome	Chronic otitis media, Anteverted nares, Gingival overgrowth, Abnormality of the outer ear, Low-se...	ORPHA:96167
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Short nose, Hydrocephalus, Pectus carinatum, Anteverted nares, Microtia, L...	ORPHA:171839
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Diabetes insipidus, Scoliosis, Midline nasal gr...	ORPHA:391474
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Constipation, Hearing impair...	OMIM:613662
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Bamforth-Lazarus Syndrome	Bilateral choanal atresia, Cleft palate	OMIM:241850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, Scoliosis, High palate, Hypoplasia of the maxilla, Macrotia, Long...	OMIM:218000
Ehlers-Danlos Syndrome, Classic Type, 1	Pes planus, Premature birth following premature rupture of fetal membranes, Joint dislocation, Bo...	OMIM:130000
Filippi Syndrome	Postnatal growth retardation, Thin vermilion border, Finger clinodactyly, Short philtrum, Low han...	OMIM:272440
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Aminopterin/Methotrexate Embryofetopathy	Talipes, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midl...	ORPHA:1908
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the sense of smell, Ap...	ORPHA:1135
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556037
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Abnormal nat...	ORPHA:79124
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Kyphosis, Joint stiffness, Lethal short-limbed short...	ORPHA:1860
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Long nose, Abnormal earlobe morphology, Abnormal form of the ver...	ORPHA:2769
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Nasolacrimal duct obstruction, Microc...	OMIM:612109
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Anteverted ears, Short stature, Macrotia, Motor stereotypy, Aggressive behavior	OMIM:615541
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Polyhydramnios, Death in infancy	OMIM:225753
Schwartz-Jampel Syndrome	Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contracture, Pectus ex...	ORPHA:800
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Bohring-Opitz Syndrome	Retrognathia, Deep plantar creases, Hyperechogenic pancreas, Dislocated radial head, Broad alveol...	OMIM:605039
Juberg-Hayward Syndrome	Cleft upper lip, Anteriorly placed anus	OMIM:216100
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flattening, Aglossia, Pursed lips	OMIM:241310
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Delayed skeletal maturation, Bifid uvula, Symphalangism aff...	ORPHA:2658
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Short philtrum, Ectopic anus, Mandibular prognathia, Downturned corners of mouth, Cleft palate, M...	ORPHA:94066
11P15.4 Microduplication Syndrome	Macrotia, Obesity, Posteriorly rotated ears, Aggressive behavior	ORPHA:300305
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Bell-shaped thorax, Spina bifida occulta, Short thorax, Hydrocephalus, Ectopic anu...	OMIM:613686
Aredyld	Abnormality of the ear, Generalized hypotrichosis	OMIM:207780
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh...	OMIM:617974
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Short stature, Macrotia, I...	OMIM:614104
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Deep palmar crease, Low-set, posteriorly rotated ears, Plantar flexion contr...	ORPHA:2872
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Thickened nuchal skin...	ORPHA:284417
Three M Syndrome 3	Protruding ear, Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Sh...	OMIM:614205
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,...	ORPHA:83469
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3...	OMIM:236500
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Microtia, Short long bone, Enlarged thorax, Aplasia/Hypoplasia involving the pelvis, Pectus excav...	ORPHA:163654
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Scoliosis, Calf muscle hypertrophy, Cryptorchidism, Abnormality of the...	ORPHA:370968
Tetraamelia Syndrome 2	Glossoptosis, Low-set ears, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilater...	OMIM:618021
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick lower lip vermilion, Gin...	OMIM:618658
Congenital Disorder Of Glycosylation, Type Il	Short nose, Hydrops fetalis, Low-set ears, Ascites, Kyphosis, Fetal skin edema, Delayed skeletal ...	OMIM:608776
Mitochondrial Pyruvate Carrier Deficiency	Long philtrum, Thin upper lip vermilion, Respiratory distress	OMIM:614741
Congenital Tufting Enteropathy	Orofacial cleft, Steatorrhea, Abdominal distention, Abnormal small intestinal mucosa morphology, ...	ORPHA:92050
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Protruding ear, Short philtrum, Anteverted nares, Mandibular prognathia, High palate, Low-set ear...	OMIM:620001
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Polyhydramnios, Platyspondyly, Narrow chest, Encephalocele, Short...	ORPHA:93274
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Subcutaneous calcification, Radial bowing	OMIM:617993
Isolated Cleft Lip	Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m...	ORPHA:199302
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Angiokeratoma corporis diffusum, Hydrops f...	OMIM:230500
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t...	OMIM:309630
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Recurrent otitis media, Precocious puberty, Obesity, Hyperc...	ORPHA:254531
Trichorhinophalangeal Syndrome, Type I	Pectus carinatum, Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the prox...	OMIM:190350
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Hydrolethalus	Retrognathia, Gingival cleft, Polyhydramnios, Anencephaly, Low-set, posteriorly rotated ears, Hyd...	ORPHA:2189
Mosaic Variegated Aneuploidy Syndrome 3	Convex nasal ridge, Cleft palate, Low-set ears	OMIM:617598
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ...	OMIM:222100
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas...	ORPHA:556030
Treacher Collins Syndrome 3	Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Hypoplasia...	OMIM:248390
Phaver Syndrome	Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Aplas...	ORPHA:2876
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Abnormality of the philtru...	ORPHA:1770
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Short distal phalanx of finger, Abnormal epiphysis morphology, Abn...	ORPHA:53
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis...	OMIM:606895
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal stenosis, Thin upper lip verm...	OMIM:620183
Schilbach-Rott Syndrome	Long nose, Microtia, Narrow mouth, Micrognathia, Bifid uvula, Posteriorly rotated ears, Prominent...	OMIM:164220
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Narrow chest, Depressed nasal ridge, Communicating hydrocephalus,...	ORPHA:1861
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Respiratory insufficiency...	ORPHA:90308
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Silver-Russell Syndrome	Sandal gap, Dental crowding, Upper limb asymmetry, Delayed skeletal maturation, Premature birth, ...	ORPHA:813
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con...	ORPHA:26793
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasi...	OMIM:181450
Orofaciodigital Syndrome V	Aganglionic megacolon, High palate, Low-set ears, Ankyloglossia, Hearing impairment, Bifid uvula,...	OMIM:174300
Triploidy	Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Meningocele, Finger syndactyly, ...	ORPHA:3376
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:616081
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Delayed skeletal maturation, Hypo...	ORPHA:221008
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Irritability, Abnormal head movements, Torticollis	ORPHA:71518
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Congenital hypoparathyroidism, Anemia, ...	OMIM:244460
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocytic nevus, Ap...	ORPHA:1818
Sponastrime Dysplasia	Kyphoscoliosis, Disproportionate short-limb short stature, Short long bone, Short dental root, Mi...	ORPHA:93357
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
D-Glyceric Aciduria	Hearing impairment, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hype...	ORPHA:941
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Hepatic Veno-Occlusive Disease	Hepatomegaly, Ascites	ORPHA:890
Crouzon Syndrome	Narrow palate, Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Conductive hearing...	ORPHA:207
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Bilateral choanal atresia, Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplas...	OMIM:106260
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Low-set ears, Choanal atresia, Pyloric stenosis, Cleft upper l...	OMIM:263750
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Cleft palate, Bifid nose, Cleft lip	OMIM:614838
Ataxia-Telangiectasia	Decreased circulating antibody level, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia...	ORPHA:100
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious...	OMIM:613670
Leber Congenital Amaurosis 1	Cataract, Keratoconus	OMIM:204000
Bardet-Biedl Syndrome 11	Obesity, Hypogonadism	OMIM:615988
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Meckel Syndrome, Type 5	Cleft upper lip, Cleft palate	OMIM:611561
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Arachnodactyly, Bifid uvula, Absent thumb, Cervical ribs, Joint hypermobility, In...	ORPHA:500150
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Maternal diabetes, Small epiphyse...	ORPHA:93346
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Narrow chest, Hydrocephalus, ...	OMIM:616546
Chromosome 1P36 Deletion Syndrome, Distal	Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Delayed skeletal maturation, B...	OMIM:607872
Idiopathic Panuveitis	Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber, Choroidal neovascu...	ORPHA:280921
Coffin-Lowry Syndrome	Pectus carinatum, Sensorineural hearing impairment, Short metacarpal, Pectus excavatum, Everted l...	OMIM:303600
Chopra-Amiel-Gordon Syndrome	Short philtrum, Flared nostrils, Thick nasal alae, Cleft palate, Pierre-Robin sequence, Feeding d...	OMIM:619504
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Failure to thrive, Hyperammonemia, T...	ORPHA:79312
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Fetal Gaucher Disease	Stillbirth, Hydrops fetalis, Death in infancy, Neonatal death, Intracranial hemorrhage, Decreased...	ORPHA:85212
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Depressed nasal ridge, Tented upper lip vermilion, Malar flattening, Convex nasal ridge, Deep phi...	ORPHA:2104
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S...	OMIM:185900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Mgat2-Cdg	Osteopenia, Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal...	ORPHA:79329
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Intrauterine ...	ORPHA:2753
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Breech presentation, Sandal gap, Ascites, Death in infancy, Umbilical hernia, Long ...	OMIM:613177
Charge Syndrome	Delayed puberty, Abnormal pinna morphology, Microtia, Anosmia, Tracheoesophageal fistula, Umbilic...	ORPHA:138
Primary Dystonia, Dyt13 Type	Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action...	ORPHA:98807
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Oligodontia, Low-set ears, Micrognathia, Unilateral cle...	ORPHA:1787
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Premature birth, Intrauterine growth retardation, Joint hypermobility, Clinodactyly,...	ORPHA:96184
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Narrow chest, Scoliosis, Coxa vara, Shor...	OMIM:602271
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Prominent antitra...	ORPHA:2437
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Focal Segmental Glomerulosclerosis 1	Edema, Pleural effusion, Ascites	OMIM:603278
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph...	OMIM:275000
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Short long bone, Flat acetabular roof, Glos...	ORPHA:94068
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatic steatosis, Pa...	ORPHA:280365
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Short philtrum, Abnormal oral frenulum morphology, Cleft palat...	ORPHA:1617
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:301000
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Rhombencephalosynapsis	Polydactyly, Short nose, Aganglionic megacolon, Esophageal atresia, Low-set, posteriorly rotated ...	ORPHA:59315
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia	OMIM:306000
Kapur-Toriello Syndrome	Low hanging columella, Low-set ears, Constipation, Cleft upper lip, Intestinal malrotation, Cleft...	OMIM:244300
Hypochondroplasia	Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo...	ORPHA:429
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Raine Syndrome	Mixed hearing impairment, Subperiosteal bone formation, Abnormal pinna morphology, Pectus excavat...	OMIM:259775
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Split hand, Low-set ears, Neonatal death, Respiratory failure, Wide na...	OMIM:610127
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Anhydramnios	OMIM:619887
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Scoliosis, Broad metacarpals, Broa...	OMIM:277600
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Sandal gap, Dental crowding, Pectus excavatum, Kyphosis, Intestinal malrotation, Arach...	OMIM:617602
Lowry-Maclean Syndrome	Retrognathia, Short nasal bridge, Intrauterine growth retardation, Craniosynostosis, Delayed erup...	ORPHA:2409
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Small earlobe, Hyp...	ORPHA:567
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites	OMIM:174050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Respiratory distress, Bruxism, Abnormal mandible morp...	ORPHA:93958
Axenfeld-Rieger Syndrome	Anal stenosis, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hearing impai...	ORPHA:782
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal antitragus morpholo...	ORPHA:2377
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, ...	ORPHA:177910
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair	OMIM:278200
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis	ORPHA:279914
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Thin vermilion border, High, narrow palate, Long foot, Short philtrum, Microdontia,...	ORPHA:2707
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Macrotia, Wide mouth, Broad nasal tip, Thick ver...	OMIM:618106
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Low-set ears, Hypoplasia of the maxilla, Short stature, Hearing impairment...	OMIM:614261
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental crowding, 2-3 toe syndacty...	OMIM:617201
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Trisomy 9P	Dental crowding, Non-midline cleft of the upper lip, Macrotia, Downturned corners of mouth, Abnor...	ORPHA:236
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Decre...	OMIM:232500
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s...	OMIM:608328
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Polyphagia, Hypogonadism	OMIM:617119
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Abnormal fo...	ORPHA:352540
Hypophosphatasia	Abnormal metaphysis morphology, Anemia, Narrow chest, Respiratory insufficiency, Bowing of the lo...	ORPHA:436
Coffin-Siris Syndrome 6	Retrognathia, High, narrow palate, Short philtrum, Gastroesophageal reflux, Low-set ears, Constip...	OMIM:617808
Chromosome 15Q26-Qter Deletion Syndrome	Low-set ears, Short stature, Micrognathia, Short middle phalanx of finger, Brachydactyly, Intraut...	OMIM:612626
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Small earlobe, Short humerus, Hypoplastic facial bones, Intrauterine growth r...	OMIM:264090
Chromosome 8Q22.1 Duplication Syndrome	Pes cavus, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Li...	OMIM:151200
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Splenoportal Vascular Anomalies	Splenomegaly, Ascites	OMIM:271500
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Broad thumb, Pulmonic stenosis, Ov...	ORPHA:435638
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Large earlobe, Wide nasal ...	OMIM:615716
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li...	ORPHA:1040
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal pinna morphology, H...	ORPHA:251056
Pseudoleprechaunism Syndrome, Patterson Type	Kyphoscoliosis, Abnormal ethmoid bone morphology, Long foot, Genu valgum, Delayed pubic bone ossi...	ORPHA:2976
Marshall Syndrome	Short nose, Thick lower lip vermilion, Anteverted nares, Sensorineural hearing impairment, High p...	ORPHA:560
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Low-set, posteriorly rotated ears, Mandibular prognathia, Broad ...	ORPHA:171866
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Smooth philtrum, Esophageal atresia, Cleft soft palate	OMIM:614526
Zaki Syndrome	Wide nose, Short philtrum, Anteverted nares, High palate, Micrognathia, Poor appetite, Wide mouth...	OMIM:619648
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Polyhydramnios, Bell-shaped thorax, Narrow chest, Respiratory insufficienc...	OMIM:615633
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Aplasia/Hypoplasia of the testes, Low-set, posteriorly rotated ears, Hernia of the abdominal wall...	ORPHA:3055
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Miscarriage, Cleft palate	ORPHA:96181
Larsen Syndrome	Broad distal phalanx of finger, Joint hypermobility, Large joint dislocations, Finger syndactyly,...	ORPHA:503
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Ascites, Premat...	OMIM:608013
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Disproportionate short-limb short stature, Short ribs, Splenomegaly...	OMIM:602557
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Polyhydramnios, Oligohydramnios, Ascites	ORPHA:1046
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hearing impairment, Cleft lip	OMIM:615271
Ovarian Fibrothecoma	Fibrosarcoma, Ovarian fibroma, Pleural effusion, Abnormality of the ovary, Ascites, Diffuse leiom...	ORPHA:314478
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Hirsutism, Small for gestational age	ORPHA:85288
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Delayed pubic bone ossification, Disproportionate short-limb short ...	OMIM:184250
Eec Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Abnormal pinna morphology, Microdo...	ORPHA:1896
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Farber Disease	Abnormal sternum morphology, Ascites, Short finger, Abnormality of the hand, Hydrops fetalis, Ost...	ORPHA:333
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtu...	OMIM:275210
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of the hand, Camptodactyly, S...	ORPHA:369891
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Cleft palate, A...	ORPHA:971
Frontonasal Dysplasia 2	Widely spaced teeth, Cleft ala nasi, Conical tooth, Anteverted nares, Bifid nasal tip, Low-set ea...	OMIM:613451
Rubinstein-Taybi Syndrome	Broad thumb, Joint hypermobility, Abnormality of the dentition, Abnormal distal phalanx morpholog...	ORPHA:783
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Breech presentation, Microdontia, Death in infancy, Thoracic hypoplasia, Hydrops fetalis, Triangu...	OMIM:300868
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Protruding ear, Mandibular prognathia, Cleft palate, Short philtrum	ORPHA:85317
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Multiple Epiphyseal Dysplasia Type 5	Ankle pain, Genu valgum, Mild short stature, Intervertebral disk degeneration, Arthralgia of the ...	ORPHA:93311
Specific Granule Deficiency 2	Amelogenesis imperfecta, Recurrent otitis media, Anemia, Abnormal pinna morphology, Low-set ears,...	OMIM:617475
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Reni Syndrome	Hypertriglyceridemia, Sensorineural hearing impairment, Hypothyroidism, Hypogonadism, Lymphopenia...	OMIM:617575
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Brachydactyly-Preaxial Hallux Varus Syndrome	Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi...	ORPHA:1278
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Small pituitary gland, Abnormal sternum morphology, Dental crowdi...	ORPHA:93932
X-Linked Centronuclear Myopathy	Poor suck, High palate, Feeding difficulties in infancy, Respiratory distress	ORPHA:596
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Short philtrum, Low hanging columella, Gastroesophageal reflux, High palate, Low-se...	OMIM:619493
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphol...	ORPHA:392
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Wide nose, Short philtrum, Delayed eruption of teeth, Anteverted nares...	OMIM:614607
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Sialuria	High palate, Low-set ears, Smooth philtrum, Long philtrum, Macroglossia, Protuberant abdomen, Wid...	OMIM:269921
Garg-Mishra Progeroid Syndrome	Postnatal growth retardation, Platyspondyly, Narrow chest, Slender long bone, Dental crowding, Th...	OMIM:620601
Cerebrofaciothoracic Dysplasia	Short nose, Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Wide nose, Scoliosis...	ORPHA:1394
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Breech presentation, Dec...	OMIM:201750
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Short metacarpal, Cupped ribs, Severe short statur...	ORPHA:85167
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Narrow chest, Tracheomalacia, Wide anterior fontanel, An...	OMIM:217980
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu...	ORPHA:370010
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Noonan Syndrome 2	Abnormal sternum morphology, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus e...	OMIM:605275
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Facia...	OMIM:606407
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Coffin-Siris Syndrome 3	Wide nose, Anteverted nares, Poor suck, High palate, Hearing impairment, Cleft palate, Wide mouth...	OMIM:614608
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ...	OMIM:200990
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopen...	ORPHA:83313
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Joint contracture of the 5th finger, Hyperactivity, Low-set ears, Compulsive beh...	ORPHA:352490
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Breech presentation, Polyhydramnios, Thin ribs, Low-set ears, Multi...	ORPHA:171430
Naxos Disease	Cleft upper lip, Vertigo	ORPHA:34217
Temple-Baraitser Syndrome	Everted upper lip vermilion, Wide nose, Delayed eruption of teeth, Anteverted nares, Gingival ove...	ORPHA:420561
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Squared-off platyspondyly, Platyspondyly, Flattened proximal radia...	OMIM:271530
Pentasomy X	Delayed puberty, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Short stature...	ORPHA:11
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperglycemi...	OMIM:615812
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Seve...	ORPHA:168555
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal bone ossification, Thin metacarpal cortices, Pectus excavatum, Arachnodactyly, Delayed s...	ORPHA:2463
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Microtia, Tracheoesophageal fistula, Hearing impairment, Atresia ...	ORPHA:268249
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Polyhydramnios, Wide anterior fontanel, Short long bo...	OMIM:263210
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Abnormal ...	ORPHA:1297
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Low-set ear...	OMIM:608104
Osteopetrosis, Autosomal Recessive 5	Ascites, Splenomegaly, Long philtrum, Cranial hyperostosis, Pancytopenia, Increased bone mineral ...	OMIM:259720
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Solitary Median Maxillary Central Incisor	Solitary median maxillary central incisor, Prominent median palatal raphe, Anosmia, Choanal atres...	OMIM:147250
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Constipation, Macroglossia, Protuberant abdomen, Feeding difficulties in in...	ORPHA:226313
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Thick lower lip vermilion, Thi...	ORPHA:583
Selective Igm Deficiency	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D...	ORPHA:331235
Cri-Du-Chat Syndrome	Premature graying of hair, Abnormal pinna morphology, Short metacarpal, Bifid uvula, Syndactyly, ...	OMIM:123450
3C Syndrome	Abnormal hip bone morphology, Kyphosis, Death in infancy, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:7
Neuraminidase Deficiency	Hydrops fetalis, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineu...	OMIM:256550
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Abnormal sternum morphology, Hamartomatous stomach polyps, Short ribs, Ovarian fi...	OMIM:109400
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating creatine kinase concen...	OMIM:613327
Bardet-Biedl Syndrome 5	Polydactyly, Hypogonadism, Syndactyly, Brachydactyly	OMIM:615983
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Accelerated skeletal maturation, Syndactyly, Umbilical hernia, Craniosynostosis, Hyd...	OMIM:175700
Oculodentodigital Dysplasia	Short nose, Low hanging columella, Narrow nasal bridge, Anteverted nares, Underdeveloped nasal al...	OMIM:164200
Fgfr2-Related Bent Bone Dysplasia	Steep acetabular roof, Hypoplastic ischia, Metopic depression, Hepatosplenomegaly, Incomplete oss...	ORPHA:313855
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Protruding ear, Hyperpigmentation of the skin, Onychogryposis of fing...	ORPHA:2251
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Tracheomalacia, Short hard palate, Meningocel...	ORPHA:1393
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Cleft upper lip, Abnormal pinna morphology, Abnormality of the dentition	OMIM:273400
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion...	OMIM:619381
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve...	OMIM:601358
Maxillonasal Dysplasia, Binder Type	Short nose, Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger, D...	OMIM:155050
Microform Holoprosencephaly	Cyclopia, Hypotelorism, Short stature, Premature birth, Intrauterine growth retardation, Iris col...	ORPHA:280200
Presynaptic Congenital Myasthenic Syndromes	Kyphoscoliosis, Decreased fetal movement, Pes cavus, Polyhydramnios, Cyanosis, Distal lower limb ...	ORPHA:98914
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Oligodontia, Mandibular prognathia, Cleft upper lip, Cleft palate, Wide...	OMIM:201180
Congenital Myasthenic Syndrome	Kyphoscoliosis, Decreased fetal movement, Pes cavus, Polyhydramnios, Cyanosis, Distal lower limb ...	ORPHA:590
Acrofrontofacionasal Dysostosis	Dimple on nasal tip, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion...	ORPHA:1784
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi...	ORPHA:3409
Mandibulofacial Dysostosis, Guion-Almeida Type	Esophageal atresia, Respiratory distress, Microtia, Overfolded helix, Low-set ears, Feeding diffi...	OMIM:610536
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Microdontia, Aortic valve stenosis, Severe short stature, I...	OMIM:607095
Geleophysic Dysplasia 3	Limited elbow movement, Polyhydramnios, Anteverted nares, Epiphyseal dysplasia, Short stature, De...	OMIM:617809
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Obesity, ...	OMIM:303110
Neu-Laxova Syndrome 2	Rocker bottom foot, Polyhydramnios, Finger syndactyly, Scoliosis, High palate, Low-set ears, Depr...	OMIM:616038
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Limited knee flexion/extension, Respiratory insufficiency, Limited elbow flexion, Respiratory fai...	ORPHA:266
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Microtia, Low-set ears, Polyphagia, Abnormal ear morphology, Obesity	ORPHA:171829
Brachydactyly, Type A1, B	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact...	OMIM:607004
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Neoplasm	ORPHA:168811
Alagille Syndrome	Hypoplasia of the ulna, Delayed puberty, Long nose, Protruding ear, Clinodactyly of the 5th finge...	ORPHA:52
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Sensorineural hearing impairment, High palate, Narrow mouth, Anal atresia, Low-s...	OMIM:612582
N-Acetylaspartate Deficiency	Inguinal hernia, Decreased body weight, Short stature, Motor stereotypy, Self-mutilation	OMIM:614063
Fraser Syndrome 3	Stillbirth, Sonographic non-visualized fetal bladder, Wide nose, Hydrocephalus, Low-set ears, Asc...	OMIM:617667
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Short ribs, Long philtrum, Hydrops fetalis, Short thor...	ORPHA:93271
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Hsd10 Disease	Postnatal growth retardation, Abnormal social behavior, Tremor, Hearing impairment, Dysphagia, Ch...	ORPHA:391417
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Dystonia, Reduced social reciprocity, Motor stereotypy	OMIM:617820
Craniolenticulosutural Dysplasia	Decreased skull ossification, Microdontia, High iliac wing, Wide mouth, Long philtrum, Joint hype...	ORPHA:50814
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Laron Syndrome	Short long bone, Delayed menarche, Delayed skeletal maturation, Limb undergrowth, Severe short st...	OMIM:262500
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Panniculitis, G...	ORPHA:79086
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sp...	ORPHA:2475
Hamamy Syndrome	Sensorineural hearing impairment, Pectus excavatum, Everted lower lip vermilion, Wide mouth, Synd...	OMIM:611174
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Intellectual Developmental Disorder, X-Linked 97	Macrotia, Obesity	OMIM:300803
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Christianson Syndrome	Cachexia, Macrotia, Inappropriate laughter, Dystonia, Dysphagia, Motor stereotypy, Arthrogryposis...	ORPHA:85278
Isolated Arrhinia	Tessier cleft, Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Abse...	ORPHA:1134
Dyskeratosis Congenita, Digenic	Anemia, Decreased testicular size, Decreased circulating IgG level, Decreased circulating total I...	OMIM:620040
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Abnormality ...	OMIM:617952
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Small earlobe, Everted lower lip vermilion, Long philtrum, Craniosynost...	OMIM:608156
Hypotrichosis 7	Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly...	OMIM:604379
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Cortisone Reductase Deficiency 1	Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Obesity, Alopecia	OMIM:604931
Hemochromatosis, Type 3	Cirrhosis, Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin sa...	OMIM:604250
Hallermann-Streiff Syndrome	Hypertension, Hyperlordosis, Pectus excavatum, Everted lower lip vermilion, Joint hypermobility, ...	OMIM:234100
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Low-set ears, Cleft palate, Posteriorly...	OMIM:615502
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Pulmonic stenosis, Overlapping toe, Advanced eruption of teeth, Short philtrum, Ence...	OMIM:619148
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia...	ORPHA:2975
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Dental crowding, Tracheobronchomalacia, Short long bone, Joint stiffness, Joint hyperm...	OMIM:619184
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Abnormal pinna morphology, Tooth ag...	ORPHA:2710
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Pectus excavatum, Bifid uvula, Broad philtrum, ...	OMIM:211380
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Hydrocephal...	OMIM:616294
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Volvulus Of Midgut	Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc...	OMIM:193250
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Short stature, Microgna...	ORPHA:1514
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Bradycardia, Joint cont...	OMIM:614407
Osteogenesis Imperfecta	Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral...	ORPHA:666
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Symphalangism, Distal	Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr...	OMIM:185700
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Prominent nose, Short stature, Short palm,...	OMIM:101805
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L...	OMIM:617099
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat...	OMIM:619947
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Disproportionate short-limb short stature, Short long bone, Short ribs, Cupped ribs, Metaphyseal ...	OMIM:250420
Wolman Disease	Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy	OMIM:620151
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Cyclopia, Polyhydramnios	ORPHA:990
Arterial Tortuosity Syndrome	Rocker bottom foot, Hypertension, Arachnodactyly, Cardiorespiratory arrest, Joint hypermobility, ...	ORPHA:3342
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,...	ORPHA:1858
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ...	OMIM:619445
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Limitation of knee mobility, Cervical myelopat...	ORPHA:321
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ...	OMIM:183900
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Low-set ears, Cholestasis, Prec...	OMIM:246200
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Dental crowding, Mandibular prognathia, Impulsivity, Uplifted earlobe, Tented uppe...	OMIM:300143
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Equinovarus deformity, Triphalangeal thumb, Severe postnatal grow...	ORPHA:3078
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ...	OMIM:300373
Axial Mesodermal Dysplasia Spectrum	Abnormal form of the vertebral bodies, Hydrocephalus, Gingival overgrowth, Abnormal intestine mor...	ORPHA:1834
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Severe short stature, Thoracic...	ORPHA:93352
Hypertelorism-Microtia-Facial Clefting Syndrome	Microtia, Bifid nasal tip, Median cleft palate, Atresia of the external auditory canal, Conductiv...	ORPHA:2213
Cranioectodermal Dysplasia 4	Thin vermilion border, Pes valgus, Broad distal phalanx of finger, Protruding ear, Narrow chest, ...	OMIM:614378
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Low-set ears, Inguinal hernia	OMIM:300209
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Abnormal bone ossification, Abnormal diaphysis morphology, Generali...	ORPHA:73230
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Disproportionate short-limb short stature, Sensorin...	OMIM:619194
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Ectopic anus, Scoliosis, Abnormal ...	ORPHA:2345
Lethal Kniest-Like Dysplasia	Breech presentation, Short ribs, Hypoplastic vertebral bodies, Edema, Abnormal ischium morphology...	ORPHA:2347
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios	ORPHA:163596
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ears, ...	ORPHA:444002
49,Xyyyy Syndrome	Abnormality of the testis size, Delayed skeletal maturation, Lop ear, Short 5th finger, Abnormali...	ORPHA:99330
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Pectus excavatum, Pulmonic stenosis, Delayed skeletal maturatio...	ORPHA:488632
Intermediate Nemaline Myopathy	Polyhydramnios, Premature birth, Decreased fetal movement, Respiratory failure, Hypertelorism	ORPHA:171433
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter, Sparse hair	OMIM:615074
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Small Bowel Atresia	Abdominal distention, Intestinal hypoplasia, Vomiting, Intestinal malrotation, Feeding difficulti...	ORPHA:1201
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Int...	OMIM:618839
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Metaphyseal ...	OMIM:156400
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Mandibular prognathia, Hypoplastic nipples, Pectus excavatum, Abn...	OMIM:618505
Hypophosphatasia, Infantile	Stillbirth, Polyhydramnios, Anemia, Disproportionate short-limb short stature, Unossified vertebr...	OMIM:241500
Auriculocondylar Syndrome 3	Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, G...	OMIM:615706
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonat...	OMIM:618835
Focal Dermal Hypoplasia	Midclavicular aplasia, Mixed hearing impairment, Short ribs, Short metacarpal, Myelomeningocele, ...	OMIM:305600
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Sudden episodic apnea, Respiratory distress, Poor suck, Apneic episodes precipitated by illness, ...	OMIM:605809
Desmosterolosis	Retrognathia, Abnormal earlobe morphology, Intestinal malrotation, Bifid uvula, Severe short stat...	ORPHA:35107
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hypotrichosis 9	Hearing abnormality, Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Spa...	OMIM:614237
Schaaf-Yang Syndrome	Low-set ears, Polyphagia, Impulsivity, Camptodactyly, Cryptorchidism, Obesity, Skin-picking, Flex...	OMIM:615547
Primary Pulmonary Hypoplasia	Patellar hypoplasia, Low-set ears, Hypoxemia, Micrognathia, Cleft palate, Intrauterine growth ret...	ORPHA:2257
Jackson-Weiss Syndrome	Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t...	OMIM:123150
Bardet-Biedl Syndrome 16	Hearing impairment, Obesity, Recurrent otitis media, Hypogonadism	OMIM:615993
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Respiratory distress, High palate, Low-set ears, Micrognathia, Deep philtrum, Ap...	ORPHA:314655
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis, Short stature, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe...	OMIM:600384
Sclerosteosis 1	Sclerotic vertebral endplates, Tooth malposition, Broad clavicles, Mandibular prognathia, Abnorma...	OMIM:269500
Holzgreve Syndrome	Single umbilical artery, Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abnor...	ORPHA:2167
Silver-Russell Syndrome 3	Postnatal growth retardation, Retrognathia, Clinodactyly of the 5th finger, Low-set ears, Unilate...	OMIM:616489
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Anteverted nares, Abnormal pinna morphology, Hypoplasia of the maxilla, Posteriorly rotated ears,...	ORPHA:228396
Genitopalatocardiac Syndrome	Non-midline cleft of the upper lip, Low-set ears, Downturned corners of mouth, Cleft palate, Micr...	ORPHA:2075
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Low-set, posteriorly rotated ears, Sandal gap, Anteverted nares, High palate, Microm...	ORPHA:1035
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Gorlin-Chaudhry-Moss Syndrome	Abnormal foot morphology, Abnormal metacarpal morphology, Oligodontia, Abnormality of the dentiti...	ORPHA:2095
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
14Q11.2 Microduplication Syndrome	Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Kyphoscoliosis, Sandal gap, Dental crowding, Pect...	ORPHA:230851
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn...	OMIM:604757
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal zygomatic bone morphology, Hearing abnormality, Narrow nasal bridge, Mandibular prognath...	ORPHA:2511
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Dental crowding, Narro...	ORPHA:740
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Oroman...	ORPHA:52368
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Sensorineural hearing impairment, Everted lower lip vermilion, Long philtrum, Oligodontia, Exagge...	OMIM:608670
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hydrops fetalis, Neonatal death, Finger aplasia	OMIM:276822
Fryns Syndrome	Aganglionic megacolon, Low-set, posteriorly rotated ears, Gastroesophageal reflux, Anteverted nar...	ORPHA:2059
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, H...	ORPHA:52429
Spermatogenic Failure, X-Linked, 1	Obesity, Sertoli cell-only phenotype	OMIM:305700
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Pectus carinatum, Lymphedema, Low-set ears, Pectus ex...	OMIM:607131
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Respiratory insufficiency, Hydrocephalus, Anteverted nares, Mic...	ORPHA:1914
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Microtia, E...	OMIM:617925
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Breech presentation, Enlarged metaphyses, Microtia, Bifid first metacarpal, Femoral bowing, Short...	OMIM:210710
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Myasthenic Syndrome, Congenital, 6, Presynaptic	Sudden episodic apnea, Respiratory distress, Poor suck, Apneic episodes precipitated by illness, ...	OMIM:254210
Fg Syndrome 3	Hyperactivity, Sensorineural hearing impairment, Cryptorchidism, Sparse hair, Frontal upsweep of ...	OMIM:300406
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
Amish Lethal Microcephaly	Micrognathia, Feeding difficulties, Cleft soft palate, Death in infancy	ORPHA:99742
Kinsship Syndrome	Dislocated radial head, Death in infancy, Respiratory arrest, Mesomelia, Wide mouth, Cervical rib...	OMIM:619297
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Hypogonadism, Short philtrum, 4-5 toe syndactyly, Br...	ORPHA:3041
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi...	OMIM:227270
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Tetraploidy	Short philtrum, Micrognathia, Cleft palate, Hypoplasia of the ear cartilage, Convex nasal ridge	ORPHA:3305
Chromosome 18Q Deletion Syndrome	U-Shaped upper lip vermilion, Short philtrum, Sensorineural hearing impairment, Mandibular progna...	OMIM:601808
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Disproportionate short-limb short stature, Barrel-shaped chest...	OMIM:619131
Say Syndrome	Macrotia, Micrognathia, Cleft palate	OMIM:181180
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia, Steatorrhea	OMIM:605911
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism	OMIM:615987
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Abnormality of the upper limb, Macrocyti...	ORPHA:124
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Sensorineural hearing impairment, Prominent fingerti...	OMIM:305450
Faciodigitogenital Syndrome, Autosomal Recessive	Microtia, Pectus excavatum, Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyl...	OMIM:227330
Craniosynostosis, Adelaide Type	Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin...	OMIM:600593
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Respiratory insufficiency, Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericard...	OMIM:617021
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Microtia, Femoral bowing, Short metacarpal, Delayed skeletal maturation, Craniosynostosis, Overla...	OMIM:616723
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Acute lymphoblastic leukemia, Conductive hearing impairment, Ne...	OMIM:610738
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula,...	OMIM:620186
Alazami-Yuan Syndrome	Hyperactivity, Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Low anterior hairline...	OMIM:617126
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, High palate, Respiratory distress	OMIM:620011
Bor Syndrome	Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Abnormality of ...	ORPHA:107
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Decreased fetal movement, Death in childhood, Breech presentation, Chylothorax, Mandibular progna...	OMIM:620278
Congenital Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the external ear, Split hand, Low-set ears, Respiratory failure, Neonatal r...	ORPHA:168486
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Disproportionate short stature, Type E brachydac...	ORPHA:1856
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Fraser Syndrome 1	Abnormal middle ear morphology, Dental crowding, Abnormal pinna morphology, Abnormality of the an...	OMIM:219000
Emanuel Syndrome	Dental crowding, Severe hearing impairment, Bifid uvula, Dysphagia, Long philtrum, Broad jaw, Too...	ORPHA:96170
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Pes cavus, Proximal muscle weakness in upper limbs, Distal lower ...	OMIM:606071
Glycosylphosphatidylinositol Biosynthesis Defect 11	Tented upper lip vermilion, Macroglossia, High palate, Wide nasal bridge	OMIM:616025
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol...	ORPHA:1422
Familial Multiple Lipomatosis	Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance	ORPHA:199276
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Small placenta, Low-se...	ORPHA:397590
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Decreased circulating IgG level, Severe B lymphocy...	OMIM:620005
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi...	ORPHA:1120
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Osteogenesis Imperfecta, Type Vii	Breech presentation, Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal f...	OMIM:610682
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, Orofacial cleft, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Macrotia, Obesity, EEG abnormality, Cryptorchidism	OMIM:301900
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Respiratory distress, High palate, Death in infancy, Neonatal death, Feeding diffic...	OMIM:300219
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Anal stenosis, Bilateral choanal atresia/stenosis, Tracheomalacia, ...	ORPHA:314679
X-Linked Hypophosphatemia	Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph...	ORPHA:89936
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, Bifid nasal tip, High palate, Ankyloglossia, Enamel hypoplasia, Malar fla...	OMIM:618874
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Cleft palate	OMIM:217100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Gastrojejunal tube feeding in infancy, Cleft palate, Feeding difficulties in infancy	ORPHA:231147
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Delayed skeletal maturation, Premature bir...	OMIM:115150
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Abnormal form of the vertebral bodies, Pectus...	ORPHA:828
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le...	ORPHA:300373
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Anteverted nares, High palate, Tented upper lip vermilion, Open mouth, Feeding difficulties, Wide...	OMIM:616158
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Low-set, posteriorly rotated ears, Disproportionate short-limb short sta...	ORPHA:2772
Spondyloenchondrodysplasia	Pectus carinatum, Hypertension, Kyphosis, Granuloma, Lower limb pain, Short distal phalanx of fin...	ORPHA:1855
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Low-set ears, Polyphagia, Obesity, Uplifted earlobe, Posteriorly rotated ears, Over...	OMIM:620439
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Sensorineural hearing impairment, Short stature, Macrotia, Conductive...	ORPHA:921
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Pes cavus, Anteverted nares, Scoliosis, Flexion contracture, Tented upper lip verm...	OMIM:616505
Multiple Mitochondrial Dysfunctions Syndrome 3	Retrognathia, Polyhydramnios, Respiratory insufficiency, High palate, Intrauterine growth retarda...	OMIM:615330
Diaphanospondylodysostosis	Decreased skull ossification, Absent fetal nasal bone, Thoracic hypoplasia, Intrauterine growth r...	OMIM:608022
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the ear cartilage...	ORPHA:1236
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis...	OMIM:267700
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Enamel hypoplasia, Macrotia, Syndactyly, Palmoplantar keratoderma, Thin upp...	OMIM:613576
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Obesity, Sparse facial hair,...	ORPHA:2183
Orofaciodigital Syndrome Iv	Short finger, Hamartoma of tongue, Tongue nodules, Pectus excavatum, High palate, Low-set ears, F...	OMIM:258860
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Split f...	OMIM:183600
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Broad thumb, Delayed skeletal maturation, Bifid uvula, Congenital sensorineural ...	ORPHA:293967
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Disproportionate sh...	OMIM:608681
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Ring Chromosome 21 Syndrome	Diabetes insipidus, Cutaneous photosensitivity, Scoliosis, Narrow palm, Short stature, Holoprosen...	ORPHA:1445
Monosomy 18P	Kyphoscoliosis, Protruding ear, Short philtrum, Tooth malposition, Abnormal antihelix morphology,...	ORPHA:1598
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
Immunodeficiency 7	Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to th...	OMIM:615387
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Trisomy 18	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Anencephaly, Abnormalit...	ORPHA:3380
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells	ORPHA:217260
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc...	ORPHA:968
Microtriplication 11Q24.1	Attached earlobe, Hyperlipidemia, Hearing impairment, Obesity, Posteriorly rotated ears, Bruxism	ORPHA:289522
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Bilateral talipes equinovarus, Atresia of the external aud...	OMIM:601356
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased response to growth hormone stimulation test, Decreased...	OMIM:615577
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Long foot, Spina bifida occulta, Sensorineural hearing impairment, Tib...	ORPHA:500095
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Non-midline cleft of the upper lip, Scoliosis, Split hand...	ORPHA:1300
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Vertigo, Hypothyroidism, Obesity, Abnormality...	ORPHA:77296
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,...	ORPHA:69735
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Gorham-Stout Disease	Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of the lower li...	ORPHA:73
Genitopatellar Syndrome	Prominent nose, Knee flexion contracture, Delayed eruption of teeth, Wide nose, Low-set ears, Hyp...	ORPHA:85201
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Narrow palate, Absent internal auditory canal, Feeding difficulties, Profound sensorineural heari...	OMIM:620469
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Short statu...	OMIM:109120
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Hydrocephalus, Postaxial hand polydactyly, Broad thumb, Accelerated skeletal m...	ORPHA:380
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Neonatal inspiratory stridor, Slender metac...	ORPHA:93360
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Decreased fetal movement, Intrauteri...	OMIM:256520
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618709
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Hurler Syndrome	Hypertension, Cardiomyopathy, Everted lower lip vermilion, Death in infancy, Splenomegaly, Abnorm...	ORPHA:93473
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
49,Xxxxy Syndrome	Chronic otitis media, Hypogonadism, Abnormal epiphysis morphology, Joint hypermobility, Coxa valg...	ORPHA:96264
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ...	OMIM:612301
Immunodeficiency 12	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased lym...	OMIM:615468
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Broad distal phalanx of finger, Dental crowding, Sensorineural hearing ...	OMIM:300990
Nail-Patella Syndrome	Abnormal femur morphology, Reduced bone mineral density, Dislocated radial head, Pectus excavatum...	ORPHA:2614
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Finger syndactyly, Severe postnatal growth retardation, Mandibular pro...	ORPHA:435938
Holoprosencephaly 2	Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Aplasia of the prem...	OMIM:157170
Isolated Dandy-Walker Malformation	Cleft palate	ORPHA:217
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ...	OMIM:611584
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Decreased respon...	OMIM:203800
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Delayed cr...	OMIM:180860
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Short philtrum, Narrow nasal bridge, Scoliosis, Everted lower lip verm...	ORPHA:2058
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Thick nasal alae, Median cleft palate, Broad nasal tip, Wide mouth, Bifid nose, ...	ORPHA:1827
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, P...	OMIM:614815
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, Polyhydramnios, Hydrops fetalis, Decreased fetal movement	OMIM:255320
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Hepatic calcif...	OMIM:620376
Nail-Patella Syndrome	Sensorineural hearing impairment, Pectus excavatum, Patellar dislocation, Disproportionate promin...	OMIM:161200
Amyotrophy, Hereditary Neuralgic	Long nasal bridge, Low-set ears, Narrow mouth, Cleft palate, Depressed nasal bridge	OMIM:162100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Abnormality of primary teeth, Incisor macrodontia, High palate, Abnormal pi...	ORPHA:438216
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, H...	OMIM:601499
Ravine Syndrome	Anorexia, Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials	ORPHA:99852
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Macrotia, Spars...	ORPHA:113
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hepatitis, Hypothyroidism, Fail...	OMIM:304790
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Recurrent otitis media, Glue ear, Bifid nasal tip, Low-set ears, Broad nasal tip, W...	OMIM:619758
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Increased facial adipose tissue, Loss of subcutaneous adipose tissu...	OMIM:248370
Peripartum Cardiomyopathy	Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul...	ORPHA:563
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Occipital encephalocele, Short ribs, Abnormal 5th metacarpal morpholog...	ORPHA:397715
Congenital Disorder Of Glycosylation, Type Im	Hypsarrhythmia, Failure to thrive, Increased circulating free fatty acid level, Hypoketotic hypog...	OMIM:610768
Short Stature-Micrognathia Syndrome	Retrognathia, Rhizomelia, 2-3 toe syndactyly, High palate, Short stature, Broad femoral neck, Mic...	OMIM:617164
1P36 Deletion Syndrome	Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, Kyphosis, Joint stiffn...	ORPHA:1606
Solar Urticaria	Abnormal tongue morphology, Vertigo, Dyspnea, Nausea, Abnormal lip morphology	ORPHA:97230
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Short stature, Dysphagia, Motor stereotypy, Hand tremor	OMIM:617862
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Deafness, X-Linked 5, With Peripheral Neuropathy	Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,...	OMIM:300614
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Hypocalcemia, Sensorineural hearing impairment, Abnormality of the ...	ORPHA:47
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate...	ORPHA:247585
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie...	OMIM:613982
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Protruding ear, Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental en...	ORPHA:1071
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Pectus carinatum, Dental crowding, Underdeveloped tragus, Pulmonic stenosis, Leukop...	OMIM:620654
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Widely spaced teeth, Polyhydramnios, Pectus c...	ORPHA:496641
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Anemia, Inguinal hernia, Sensorineural hearing impairme...	OMIM:616541
Ohdo Syndrome, Sbbys Variant	Low-set ears, Microdontia, Hearing impairment, Micrognathia, Cleft palate, Posteriorly rotated ea...	OMIM:603736
Short Syndrome	Lipoatrophy, Inguinal hernia, Sensorineural hearing impairment, Low-set ears, Reduced subcutaneou...	OMIM:269880
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612463
Hyperprolinemia, Type I	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:239500
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Delayed skeletal maturation, Long philtrum, Ab...	ORPHA:251014
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Aortic regurgitation...	OMIM:252600
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Pfeiffer Syndrome Type 2	Deviation of the thumb, Broad thumb, Intestinal malrotation, Hydrocephalus, Choanal atresia, Atre...	ORPHA:93259
Transaldolase Deficiency	Edema, Hydrops fetalis, Telangiectasia	ORPHA:101028
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce...	ORPHA:381
Saethre-Chotzen Syndrome	Long nose, Microtia, Partial duplication of the distal phalanx of the 2nd finger, Partial duplica...	OMIM:101400
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Polyphagia, Increased...	OMIM:620085
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c...	OMIM:604307
Pediatric-Onset Graves Disease	Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Hepa...	ORPHA:525731
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho...	ORPHA:785
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Kyphoscoliosis, Polyhydramnios, Neutropenia, Short nose, High palate, S...	OMIM:618005
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, T...	OMIM:214800
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Wide nasal base, Spina bifida occulta, Abnormal pinna morphology, Abnor...	ORPHA:488434
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Dental crowding, Hyperlordosis, Pectus excavatum, Hypoxemia, Respiratory insuffic...	ORPHA:2020
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Long philtrum, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Cub...	ORPHA:263463
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Gastroesophageal reflux, Abnormal antihelix morphology, Mandibular prognathia, Everte...	ORPHA:261144
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hepat...	OMIM:619013
15Q24 Microdeletion Syndrome	Wide nasal base, Proximal placement of thumb, Kyphosis, Myelomeningocele, Abnormal toe morphology...	ORPHA:94065
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Vomiting, Abdominal pain	ORPHA:313906
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Congenital Myopathy 22A, Classic	Breech presentation, Bradycardia, Dental crowding, Pectus excavatum, Kyphosis, Congenital finger ...	OMIM:620351
Branchioskeletogenital Syndrome	Mixed hearing impairment, Upper limb peromelia, Pectus excavatum, Bifid uvula, Umbilical hernia, ...	ORPHA:1299
Schisis Association	Cleft palate, Unilateral cleft lip, Tracheoesophageal fistula, Anal atresia	ORPHA:63862
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Sensorineural hearing impairment, Tremor, Low-set ears, Decreased body weight, Att...	OMIM:618342
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Mandibular prognathia, Low-set ears, Unilateral cleft palate, Wide mou...	OMIM:619103
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Hydrocele testis	OMIM:605309
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Hy...	OMIM:601216
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Protein-losing enteropathy, High palate, Low-set ears, Micrognathia, Broad ...	ORPHA:1655
Brachydactyly Type C	Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud...	ORPHA:93384
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Poor suck, High palate, Low-set ears, Attention deficit hyperactivity disor...	OMIM:619383
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Polyhydramnios, Hydrocephalus, Microtia, Narrow mouth, Aplasia/Hypoplasia involv...	ORPHA:3301
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration...	ORPHA:444490
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of...	OMIM:615630
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, D...	ORPHA:90363
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Hypersplenism, High-output cong...	ORPHA:231226
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Pes pl...	OMIM:618395
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Wide nose, Finger syndactyly, ...	ORPHA:3210
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:79330
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Abnormal toenail morphology, Abnormal fingernai...	ORPHA:1433
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Dental crowding, Hypertension, Sinus tachycardia, Joint stiffness, Pathol...	OMIM:614008
Meier-Gorlin Syndrome 6	Delayed puberty, Sandal gap, Tracheobronchomalacia, Microtia, Delayed skeletal maturation, Severe...	OMIM:616835
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin...	OMIM:245600
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
1Q41Q42 Microdeletion Syndrome	Cleft palate, Broad nasal tip, Depressed nasal bridge, Thick vermilion border, Submucous cleft ha...	ORPHA:250999
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Hydrocephalus, Clubbing, Nasal congestion, Polysple...	ORPHA:244
Combined Oxidative Phosphorylation Deficiency 30	Decreased liver function, Gastroesophageal reflux, Respiratory distress, Sensorineural hearing im...	OMIM:616974
Pitt-Hopkins Syndrome	Narrow foot, Wide mouth, Thickened helices, Aganglionic megacolon, Short philtrum, Tooth malposit...	ORPHA:2896
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Hydrocephalus, Cutis marmorata, Depressed nasal bridge, Syndactyly, Smooth philtrum,...	OMIM:602501
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Widely spaced teeth, Selective tooth agenesis, Split hand, Ectodermal dysp...	OMIM:225280
Ataxia-Telangiectasia	Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Acute lymphobl...	OMIM:208900
Acrocardiofacial Syndrome	Low-set ears, Anal atresia, Death in infancy, Cleft upper lip, Cleft palate, Wide nasal bridge, F...	ORPHA:2008
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Hypergonadotropic hypogonadism, Hearing impairment, Macrotia, Sparse body hair...	ORPHA:2850
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, T...	OMIM:226980
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen...	ORPHA:79133
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Hyperammonemia, Dysphagia, Hypoglycemia, Small for gestational age, Neutropenia	OMIM:618253
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Low-set ears, Abnormality of the dentition, Cleft palate, Prominent nasal bridge,...	ORPHA:261190
Barber-Say Syndrome	Microtia, first degree, Wide mouth, Anteverted nares, Stenosis of the external auditory canal, He...	OMIM:209885
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Intrauterine growth retardation, Self-injurious behavior, Arthrogryposis multiplex congenita, Mot...	OMIM:615282
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis...	ORPHA:264580
Culler-Jones Syndrome	Cleft upper lip, Cleft palate	OMIM:615849
Foxg1 Syndrome	Severe postnatal growth retardation, Decreased body weight, Stereotypical hand wringing, Short st...	ORPHA:561854
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Inappropriate laughter, Dystonia, Motor stereotypy, Bruxism, Aggressive behavior	OMIM:619150
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Pectus excavatum, Delayed skeletal maturati...	OMIM:270450
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Mullegama-Klein-Martinez Syndrome	Long philtrum, Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set...	OMIM:301022
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen...	OMIM:226990
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi...	ORPHA:2924
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Hypogonadism, Decreased fetal movement, I...	ORPHA:2671
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Hypoplastic iliac wing, Sensorineural hearing impairment, Microdontia, Tooth agenes...	ORPHA:2637
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Accelerated ...	OMIM:130070
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Holoprosencephaly 1	Tessier cleft, Proboscis, Median cleft palate, Median cleft upper lip, Aplasia of the nose	OMIM:236100
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
48,Xxyy Syndrome	Chronic otitis media, Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergona...	ORPHA:10
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Cleft soft palate, Anteverted nares, Microtia, Hearing impairment, Micrognathia, Subm...	ORPHA:2282
Hereditary Angioedema Type 1	Abnormal soft palate morphology, Diarrhea, Abdominal pain, Respiratory distress, Dyspnea, Abnorma...	ORPHA:100050
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Polyhydramnios, Premature birth, Decreased fetal movement, Respiratory failure, Neonatal respirat...	OMIM:616867
Mosaic Trisomy 1	Rocker bottom foot, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Wide mouth, Long to...	ORPHA:1692
Snakebite Envenomation	Hypotension, Cerebral ischemia, Angioedema, Cardiogenic shock, Epistaxis, Intracranial hemorrhage...	ORPHA:449285
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Microtia, Lymphedema, Narrow mouth, Ca...	OMIM:616006
Image Syndrome	Adrenal hypoplasia, Low-set ears, Micromelia, Metaphyseal dysplasia, Hypogonadism, Intrauterine g...	ORPHA:85173
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Tetrasomy 12P	Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted...	ORPHA:884
Verheij Syndrome	Retrognathia, Long philtrum, Short nose, Joint hypermobility, Anteverted nares, Scoliosis, Hemive...	OMIM:615583
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Decreased fetal movement, Edema, Respiratory failure, Dilated cardiomyopathy	OMIM:607598
Lathosterolosis	Anisopoikilocytosis, Long philtrum, Short nose, Talipes, Meningocele, Anteverted nares, Gingival ...	ORPHA:46059
Craniosynostosis And Dental Anomalies	Chronic otitis media, Dental crowding, Clinodactyly, Narrow palate, Short stature, Short phalanx ...	OMIM:614188
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Gastroesophageal reflux, Duodenal atresia, Microtia, L...	OMIM:301043
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Microtia, Congenital pyloric atresia, Neonatal death, Underdeveloped nasal alae	OMIM:612138
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C...	OMIM:615237
Renal Agenesis, Bilateral	Non-midline cleft of the upper lip, Abnormal intestine morphology, Low-set ears, Tracheoesophagea...	ORPHA:1848
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Bone pain, Abnorm...	ORPHA:1822
Orofaciodigital Syndrome X	Retrognathia, Cleft palate, Depressed nasal bridge	OMIM:165590
Joubert Syndrome 10	Low-set ears, Decreased body weight, Polyphagia, Frequent temper tantrums, Conductive hearing imp...	OMIM:300804
Morm Syndrome	Hyperactivity, Truncal obesity, Micropenis, Aggressive behavior	ORPHA:75858
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Bruxism, Hirsutism	OMIM:300434
Costello Syndrome	Limited elbow movement, Deep plantar creases, Pectus carinatum, Pulmonic stenosis, Premature birt...	OMIM:218040
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Wolcott-Rallison Syndrome	Jaundice, Neutropenia, Iron deficiency anemia, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, D...	ORPHA:1667
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Respiratory insufficiency, Abnormality of the amniotic...	OMIM:609015
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Megaloblastic anemia, Slender finger, Short stature, Growth delay, Respiratory failure,...	OMIM:250940
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Death in childhood, Hydrocephalus, Anteverted nares, Sensori...	OMIM:612938
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Furrowed tongue, Micromelia, Short stature, Camptodactyly...	ORPHA:2928
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short statur...	ORPHA:370930
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Mesomelic short stature, Metatarsus adductus, Short st...	OMIM:163400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Low-set ears, Abnormal oral frenulum morphology, Intestinal malrotation, Downtu...	ORPHA:404440
2Q23.1 Microdeletion Syndrome	Hyperactivity, Everted lower lip vermilion, Polyphagia, Constipation, Tented upper lip vermilion,...	ORPHA:228402
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Severe s...	ORPHA:3107
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Incr...	ORPHA:158061
Meier-Gorlin Syndrome 2	Breast hypoplasia, Slender long bone, Tracheomalacia, Abnormal pinna morphology, Microtia, Narrow...	OMIM:613800
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Chronic otitis media, Abnormal ear morphology, Overfriendliness, Aggressive...	OMIM:618010
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Abnormal pinna morphology, Hearing impairment, Wide mouth	ORPHA:1647
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Premature birth, Abs...	OMIM:154400
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell aplasia, Testic...	OMIM:618165
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia	ORPHA:93950
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Postnatal growth retardation, Oral-pharyngeal dysphagia, Lipoma, Tremor, Lo...	ORPHA:480907
Cerebrooculofacioskeletal Syndrome 1	Sensorineural hearing impairment, Elbow flexion contracture, Camptodactyly, Cryptorchidism, Failu...	OMIM:214150
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Fraser Syndrome 2	Rectal atresia, Wide nose, Short thorax, Narrow mouth, Hypoplasia of the thymus, Anal atresia, Lo...	OMIM:617666
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Barrel-shaped chest, Pathologic fracture, Vertebral co...	OMIM:259770
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Cl...	OMIM:300946
Rhizomelic Chondrodysplasia Punctata, Type 1	Sensorineural hearing impairment, Micrognathia, Cleft palate, Malar flattening, Depressed nasal b...	OMIM:215100
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Growth delay, Neonatal death, In...	OMIM:245400
Hemochromatosis, Neonatal	Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops fetalis	OMIM:231100
Monosomy 22	Retrognathia, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Hypochromic m...	ORPHA:96123
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Abnormal form of the vertebral bodies, Mandibular...	ORPHA:2831
Rabson-Mendenhall Syndrome	Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Impaired gluco...	ORPHA:769
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Long toe, Oligohydramnios, Narrow palate, Elbow flexion contracture, Nasal cong...	OMIM:608836
Cardiofaciocutaneous Syndrome	Pectus excavatum, Pulmonic stenosis, Premature birth, Long philtrum, Thickened helices, Deep palm...	ORPHA:1340
Keratoderma Hereditarium Mutilans	Hearing impairment, Self-injurious behavior, Sensorineural hearing impairment, Cleft palate	ORPHA:494
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm...	ORPHA:2249
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic...	OMIM:159550
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility	OMIM:617442
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Low-set ears, Hypoplasia of the maxilla, Wide nasal bridge, Depre...	OMIM:167730
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Lymphangioma, Metaphyseal...	ORPHA:99646
Au-Kline Syndrome	Retrognathia, Deep plantar creases, Breech presentation, Sensorineural hearing impairment, Microt...	OMIM:616580
Shukla-Vernon Syndrome	Impulsivity, Sparse hair, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive ...	OMIM:301029
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Tremor, Short stature, Macrotia, Motor stereotypy, Overweight, Self-mutilation	ORPHA:457240
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Combined Oxidative Phosphorylation Deficiency 10	Pleural effusion, Pericardial effusion, Oligohydramnios, Ascites	OMIM:614702
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Alkuraya-Kucinskas Syndrome	Edema, Adducted thumb, Overlapping toe, Clinodactyly, Hydrocephalus, Anteverted nares, Camptodact...	OMIM:617822
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Premature ovarian insufficiency, Hyperactivity, Short stature, Macrotia, Motor ster...	ORPHA:391307
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Muscular Hypertonia, Lethal	Death in infancy, Respiratory distress	OMIM:254120
Nijmegen Breakage Syndrome	Long nose, Anal stenosis, Recurrent otitis media, Diarrhea, Malar prominence, Choanal atresia, An...	OMIM:251260
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Cryptorchidism, Sparse hair	ORPHA:1174
Marden-Walker Syndrome	Abnormal sternum morphology, Kyphosis, Arachnodactyly, Long philtrum, Intrauterine growth retarda...	OMIM:248700
Braddock-Carey Syndrome 1	Anteverted nares, Everted lower lip vermilion, Enamel hypoplasia, Macrotia, Cleft palate, Pierre-...	OMIM:619980
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Resp...	ORPHA:2492
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i...	OMIM:606721
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Abnormal vertebral morphology, Radial club hand, Respiratory ins...	OMIM:276950
Trisomy 12P	Short nose, Abnormal antihelix morphology, Low-set ears, Everted lower lip vermilion, Anal atresi...	ORPHA:1699
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Isotretinoin Embryopathy-Like Syndrome	Microtia, Micrognathia, Cleft palate, Anotia	OMIM:243440
Fragile X Syndrome	Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting	OMIM:300624
Xq28 (MECP2) duplication	Depression, Macrotia, Failure to thrive, Dysphagia, Motor stereotypy	DECIPHER:45
Ollier Disease	Abnormal metaphysis morphology, Platyspondyly, Anemia, Bone pain, Micromelia, Joint stiffness, Pr...	ORPHA:296
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Tremor, Anteverted ears, Recurrent hand flapping, Macrotia, Reduced s...	ORPHA:544254
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Death in childhood, Low-set ears, Cleft upper lip, Macrotia, Cleft palate	OMIM:600460
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Thin vermilion border, C...	ORPHA:3255
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Death in infancy, Broad thumb, Accelerat...	ORPHA:373
Carpenter Syndrome	Polydactyly, Kyphoscoliosis, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Polysple...	ORPHA:65759
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp...	OMIM:615830
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly, Spherocytosis	ORPHA:66518
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Joint hypermobility, Long philtrum, Overlapping toe, Oligohydram...	OMIM:617402
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Swollen lip, Respiratory distress	ORPHA:100057
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax, Proportionate short stature, Micromelia, Osteoarthritis, Abnormal ep...	ORPHA:93283
Dpm1-Cdg	High, narrow palate, Sandal gap, Camptodactyly, Long hallux, Micrognathia, Limb undergrowth, Tent...	ORPHA:79322
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Microtia, Narrow mouth, Everted lower lip vermilion, Low-set ears, Downturned corn...	OMIM:618089
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Biliary tract abnormali...	OMIM:209920
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Koolen-De Vries Syndrome	Narrow palate, Widely spaced teeth, Pear-shaped nose, High palate, Everted lower lip vermilion, O...	OMIM:610443
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c...	OMIM:613027
Holoprosencephaly 3	Abnormality of the nose, Single naris, Proboscis, Solitary median maxillary central incisor, Bifi...	OMIM:142945
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ...	ORPHA:90041
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Hyperactivity, Low-set ears, Cleft upper lip, Cleft palate, Posteriorly ro...	OMIM:614294
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Respiratory insufficiency, Elbow flexion contracture, ...	ORPHA:1145
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the ...	ORPHA:568
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98855
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Obesity, Inappropriate laughter, EEG abnormality	ORPHA:411515
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Sparse body hair, Hyp...	ORPHA:2234
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Joint h...	OMIM:619950
Chung-Jansen Syndrome	Impulsivity, Macrotia, Obesity, Attention deficit hyperactivity disorder, Cryptorchidism, Large e...	OMIM:617991
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, High palate, Choanal a...	ORPHA:52055
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Panhypogammaglobulinemia, Enteroviral hepa...	OMIM:307200
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity...	ORPHA:811
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:231736
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia	ORPHA:2252
Developmental And Epileptic Encephalopathy 110	Low-set ears, High palate, Macrotia, Tented upper lip vermilion, Feeding difficulties, Bruxism	OMIM:620149
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Scoliosis, Low-set ears, Abnormality of the dentition, Kyp...	ORPHA:238750
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Everted upper lip vermilion, Sandal gap, Kyphosis, Joint hypermobility, Short...	OMIM:619951
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Everted lower lip vermilion, Intrauterine growth retardation, Short d...	OMIM:615866
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Aggressive Systemic Mastocytosis	Anorexia, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukoc...	ORPHA:98850
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Bent Bone Dysplasia Syndrome 1	Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Low-set ears, C...	OMIM:614592
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Pyloric stenosis, Enamel hypoplasia, Carious teeth, Syndactyly	OMIM:226700
Focal Dermal Hypoplasia	Short ribs, Hypoplastic pelvis, Split foot, Tooth agenesis, Abnormal palmar dermatoglyphics, Uppe...	ORPHA:2092
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Everted lower lip vermilion, Arachnodactyly, Umbilical hernia, Joint...	OMIM:613776
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
X-Linked Intellectual Disability, Van Esch Type	Microtia, Hypergonadotropic hypogonadism, Short stature, Failure to thrive, Reduced social recipr...	ORPHA:163976
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Hepatocellular carcinoma, Ascites, Hepatomegaly	OMIM:619463
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Frontal upsweep of hair, Abnormal pinna morphology, Aggressive behavior	OMIM:300983
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Chronic otitis media, Abnormality of the philtrum, Low-set ears, Ab...	ORPHA:276422
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Panniculitis, Anemia, Lymphadenopathy, Lymphopenia, Failure t...	OMIM:617591
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive...	OMIM:169400
Seckel Syndrome 10	Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Glycos...	OMIM:617253
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Death in childhood, Nonimmune hydrops fetalis, Severely reduced left ve...	OMIM:620609
Nivelon-Nivelon-Mabille Syndrome	Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short...	OMIM:600092
Steinfeld Syndrome	Abnormal pinna morphology, Median cleft palate, Hearing impairment, Bifid uvula, Median cleft upp...	OMIM:184705
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic...	ORPHA:1506
Treacher Collins Syndrome 2	Retrognathia, Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impair...	OMIM:613717
Hyperparathyroidism, Transient Neonatal	Subperiosteal bone formation, Short long bone, Femoral bowing, Short ribs, Ovarian cyst, Short na...	OMIM:618188
15Q Overgrowth Syndrome	Retrognathia, Mixed hearing impairment, Breech presentation, Abnormal sternum morphology, Dental ...	ORPHA:314585
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St...	OMIM:612310
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Short thorax, Abnorm...	ORPHA:85199
Foxp1 Syndrome	Abnormality of the ear, Hypoplastic helices, Recurrent otitis media, Hypothyroidism, Failure to t...	ORPHA:391372
Orofaciodigital Syndrome I	Supernumerary tooth, Hamartoma of tongue, High palate, Low-set ears, Ankyloglossia, Alveolar ridg...	OMIM:311200
Pontocerebellar Hypoplasia, Type 11	Decreased body weight, Short stature, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hy...	OMIM:617695
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Di...	OMIM:261540
Asbestos Intoxication	Mediastinal lymphadenopathy, Clubbing of fingers, Oxygen desaturation on exertion, Hypoxemia, Rig...	ORPHA:2302
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Sensorineural hearing impairment, Prominent fingertip pad...	OMIM:609625
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Polyhydramnios, Chylothorax, Congenital contracture, Death in infancy, Arachnodactyly, Micrognath...	OMIM:619036
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Microtia, Short metacarpal, Hypoplastic pelvis, Long philtrum, Short distal p...	OMIM:614813
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit...	OMIM:617519
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Annular pancreas, Rhizomelia, Delayed pubic bone os...	OMIM:618162
Developmental And Epileptic Encephalopathy 89	Death in childhood, Asymmetry of the ears, Narrow chest, Anteverted nares, Scoliosis, Low-set ear...	OMIM:619124
Moebius Syndrome	Aplasia of the pectoralis major muscle, Everted lower lip vermilion, Microdontia, Tooth agenesis,...	ORPHA:570
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Sensorineural hearing impairment, Eleva...	OMIM:610717
H Syndrome	Hypertriglyceridemia, Delayed puberty, Lymphadenopathy, Camptodactyly, Hearing impairment, Decrea...	ORPHA:168569
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increas...	OMIM:618398
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Intrahepatic cholestasis, Pancreatitis, Cholelithiasis, Cholangitis, Sclerosing ch...	ORPHA:69663
Developmental And Epileptic Encephalopathy 80	Abnormal pinna morphology, High palate, Overfolded helix, Low-set ears, Protruding tongue, Death ...	OMIM:618580
Faciocardiorenal Syndrome	Protruding ear, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bridge, Under...	ORPHA:1973
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Neoplasm of the pancreas, T lymphocytopenia, Generalized osteoporosis, Bifid uvu...	ORPHA:2959
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Narrow nasal ridge, Pectus excavatum, Joint stiffness, Elevated hemoglobin A1c, Long ...	OMIM:619127
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Small earlobe, Oligodontia, Exaggerated cupid's bow, Long uppe...	ORPHA:364577
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop...	OMIM:603553
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t...	OMIM:619356
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Holoprosencephaly 11	Cleft lip, Cleft palate	OMIM:614226
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Abnormality of the endocrine system, Pectus excavatum...	ORPHA:268261
Autosomal Recessive Stickler Syndrome	Sensorineural hearing impairment, Micrognathia, Cleft palate, Malar flattening	ORPHA:250984
Bloom Syndrome	Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnormal proporti...	ORPHA:125
Cantú Syndrome	Deep plantar creases, Delayed skeletal maturation, Accelerated skeletal maturation, Wide mouth, U...	ORPHA:1517
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Temple-Baraitser Syndrome	Long philtrum, Pseudoepiphysis of the thumb, Proximal placement of thumb, Wide nose, Thick nasal ...	OMIM:611816
Distal Duplication 17Q	Pectus carinatum, Arachnodactyly, Severe short stature, Wide mouth, Joint hypermobility, Overlapp...	ORPHA:3379
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab...	OMIM:233600
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Short nose, Thickened ears, Palmar pits, Joint hypermobility, Delay...	ORPHA:77301
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Sensorineural hearing impairm...	ORPHA:818
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Elbow flexion contracture, Tremor, Motor stereotypy, Aggressive behavior	OMIM:619470
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Long philtrum, High, narrow palate, Abnormality of the ear, Mandibular prognathia, Scoliosis, Pec...	ORPHA:1101
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Respiratory distress, High palate, Low-set ears, Feeding difficulties, Smoot...	OMIM:612863
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Arachnodactyly, Bifid uvula,...	ORPHA:284984
Joubert Syndrome 14	Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Hypertension, Low-set ears, Postaxial ...	OMIM:614424
Pigmented Nodular Adrenocortical Disease, Primary, 2	Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc...	OMIM:610475
Autism, Susceptibility To, 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608049
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Feeding difficulties	OMIM:619239
Huntington Disease	Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol...	ORPHA:399
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Micrognathia, Cleft palate, Prominent nasal bridge, Feeding difficulties, Wide nasa...	OMIM:618356
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Solitary median maxillary ce...	ORPHA:217346
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Sensorineural hearing impairment, High palate, Anosmia, Cleft lip	OMIM:612702
48,Xxxy Syndrome	Chronic otitis media, Hypogonadism, Abnormal epiphysis morphology, Joint hypermobility, Coxa valg...	ORPHA:96263
Rett Syndrome	Bradykinesia, Agitation, Difficulty walking, Inability to walk, Increased serum pyruvate, Stereot...	ORPHA:778
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Sensorineural hearing impairment, Cleft palate, Feeding difficulties	OMIM:615350
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Stereotypical hand wringing, Tented upper lip vermilion, Feeding diffi...	OMIM:619854
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Finger syndactyly, Bilateral cleft palate, Anal atresia, Carious teeth, Conductive...	ORPHA:1997
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Short long bone, Femoral bowing, Short ribs, Absent tibia, Intestinal malrotation, Thoracic hypop...	OMIM:613091
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Polyhydramnios, Narrow chest, Short long bone, Femor...	OMIM:615503
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Mixed hearing impairment, Pectus carinatum, Pectus ex...	ORPHA:536467
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas...	ORPHA:412
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Growth delay, Motor stereotypy, Hypogonadism, H...	ORPHA:3306
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly...	ORPHA:540
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Polyp...	OMIM:300942
X-Linked Intellectual Disability, Stevenson Type	Abnormal pinna morphology, Thick nasal alae, Microdontia, Broad columella, Tented upper lip vermi...	ORPHA:85325
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Tooth agenesis, Micrognathia, Cleft palate, Protruding ear	ORPHA:1166
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
Autosomal Recessive Malignant Osteopetrosis	Reduced bone mineral density, Splenomegaly, Abnormal epiphysis morphology, Craniosynostosis, Hydr...	ORPHA:667
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Sensorineural hearing im...	ORPHA:298
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Corneal scarring	ORPHA:90354
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Mild short s...	OMIM:620292
Adams-Oliver Syndrome 2	Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Low-set ears, Micrognath...	OMIM:614219
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Fasting hypoglycem...	ORPHA:79240
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated circulating creatinine concentration, Anemia, Orthostatic hypotension,...	ORPHA:230
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Marden-Walker Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Kyphosis...	ORPHA:2461
Acrofrontofacionasal Dysostosis 2	Wide nose, Wide anterior fontanel, High palate, Low-set ears, Thickened nuchal skin fold, Broad t...	OMIM:239710
Diamond-Blackfan Anemia 10	Respiratory distress, Microtia, Low-set ears, Hearing impairment, Atresia of the external auditor...	OMIM:613309
Bardet-Biedl Syndrome 2	Obesity, Diabetes mellitus, Hypogonadism	OMIM:615981
Wilson-Turner Syndrome	Microtia, Cryptorchidism, Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
Stüve-Wiedemann Syndrome	Absent patellar reflexes, Flexion contracture of finger, Intrauterine growth retardation, Oligohy...	ORPHA:3206
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphal...	OMIM:614450
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, Sp...	OMIM:300068
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Cleft upper lip, Cleft palate	OMIM:601701
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp...	ORPHA:52901
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Obesity, Polyphagia, Aggressive behavior	OMIM:616521
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Recurrent otitis media, Hyperactivity, Depression, Recurr...	ORPHA:449291
Crouzon Syndrome	Deviated nasal septum, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the max...	OMIM:123500
Chromosome 8Q21.11 Deletion Syndrome	Short philtrum, Sensorineural hearing impairment, Exaggerated cupid's bow, High palate, Short met...	OMIM:614230
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Pectus excavatum, Ev...	OMIM:212066
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Failure to thrive, Hyperammonemia, Leukopenia...	OMIM:251000
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Propionic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Pancytopenia, Failure to thrive, Hyperammonemia, Thrombocytop...	OMIM:606054
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Baller-Gerold Syndrome	Intrauterine growth retardation, Abnormal carpal morphology, Abnormal metacarpal morphology, Apla...	ORPHA:1225
Pyknoachondrogenesis	Short iliac bones, Palpebral edema, Craniofacial hyperostosis, Abnormality of mouth shape, Abnorm...	ORPHA:3003
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Polyhydramnios, Carpal osteolysi...	ORPHA:2774
Congenital Toxoplasmosis	Hepatomegaly, Ascites	ORPHA:858
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Hydrops fetalis, Anemia, Jaundic...	ORPHA:846
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Hyperlordosis, Arachno...	ORPHA:261330
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Pycnodysostosis	Narrow palate, Absent frontal sinuses, Hypodontia, Narrow iliac wing, Osteolytic defects of the d...	OMIM:265800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Pectus carinatum, Dental crowding, Abnormal pinna morphology, Pectus excavatum, B...	OMIM:309583
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the dentition, Syndactyly, Brachydactyly, Hypogonadism, Cryptorchidism	OMIM:615982
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Joint hypermobility, Abnormal metacarpal morphology, Abnormality of...	ORPHA:2907
Cat-Eye Syndrome	Anal atresia, Abnormal rib morphology, Short stature, Hearing impairment, Hip dysplasia, Intraute...	ORPHA:195
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Internal hemorrhage, ...	ORPHA:335
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Long philtrum, Protruding ear, Intestinal pseudo-obstruction, Finger syndactyly, Lo...	ORPHA:73246
Cap Polyposis	Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,...	ORPHA:160148
Glutamine Deficiency, Congenital	Thin vermilion border, Short nose, Erythema, Bradycardia, Anteverted nares, Low-set ears, Camptod...	OMIM:610015
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Intrauterine growth retardation, Overlap...	OMIM:613026
X-Linked Intellectual Disability, Cantagrel Type	Gastroesophageal reflux, Motor stereotypy, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Abnormal oral frenulum morphology, Syndactyly, Tongue nodules, Low-set, po...	ORPHA:2754
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br...	OMIM:113300
19P13.12 Microdeletion Syndrome	Deep plantar creases, Sandal gap, Sensorineural hearing impairment, Abnormal pinna morphology, Ky...	ORPHA:254346
Blepharophimosis-Impaired Intellectual Development Syndrome	Narrow nasal ridge, Microdontia, Delayed skeletal maturation, Wide mouth, Short distal phalanx of...	OMIM:619293
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98863
Familial Atrial Myxoma	Cardiac myxoma, Ascites, Pedal edema	ORPHA:615
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Anisopoikilocytosis, Anemia, Proximal placement of thumb, Anteverted nares, Death in ...	OMIM:615789
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, High palate, Micrognathia, Nasogastric tube feeding, Dental malocclusion, D...	ORPHA:329178
Combined Oxidative Phosphorylation Deficiency 57	Cardiac arrest, Hypertrophic cardiomyopathy, Death in infancy, Left ventricular noncompaction car...	OMIM:620167
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	ORPHA:189427
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste...	ORPHA:98853
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Joint contracture, Irritability, Motor stereotypy	OMIM:617393
Pseudoprogeria Syndrome	Absent eyelashes, Decreased body weight, Absent eyebrow, Failure to thrive, Sparse eyebrow, Spars...	ORPHA:2985
Retinitis Pigmentosa	Optic atrophy, Hyperinsulinemia, Sensorineural hearing impairment, Abnormal testis morphology, Co...	ORPHA:791
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Microtia, Everted lower lip vermilion, Microdontia, Wide mouth, Short t...	OMIM:156200
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, High, narrow palate, Joint stiffness, Micrognathia, C...	ORPHA:2516
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol...	OMIM:118100
Basilicata-Akhtar Syndrome	Retrognathia, Gastroesophageal reflux, Anteverted nares, Abnormal pinna morphology, Low-set ears,...	OMIM:301032
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Kyphoscoliosis, Breech presentation, Microtia, Everted lower lip vermilion, Joint stiffness, Cuti...	OMIM:620494
Prader-Willi Syndrome	Delayed puberty, Radial deviation of finger, Breech presentation, Kyphosis, Syndactyly, Decreased...	OMIM:176270
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hemorrhagic ovarian cyst, Pleural effusion, Enlarged polycystic ovaries, Ascites...	ORPHA:64739
Kagami-Ogata Syndrome	Postnatal growth retardation, Kyphoscoliosis, Respiratory failure requiring assisted ventilation,...	ORPHA:254519
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Cowden Syndrome 5	Thyroiditis, Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Hamartomatous polyposis, ...	OMIM:615108
Lymphatic Malformation 13	Single umbilical artery, Lymphedema, Ascites, Pulmonary arterial hypertension, Fetal pleural effu...	OMIM:620244
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal...	OMIM:601957
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Short stature, Brachy...	OMIM:613382
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Low hanging columella, Mandibular prognathia, Hypoplasia of the maxilla, Hearing im...	OMIM:620157
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati...	ORPHA:494444
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Developmental And Epileptic Encephalopathy 58	Motor stereotypy	OMIM:617830
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Vertigo, Leukocytosis, Addictive alcohol use, Le...	ORPHA:520
Lymphatic Malformation 6	Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, Generalized ed...	OMIM:616843
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Premature pubarche, Short stature, Lumbar scoliosis, Lower limb undergrowth, Brac...	OMIM:612847
Herpes Simplex Virus Stromal Keratitis	Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He...	ORPHA:137599
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Anterior hypopituitarism, Delayed eruption of teeth, Hypertension, E...	ORPHA:181
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity	OMIM:615986
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Breech presentation, Asymmetry of the...	OMIM:250250
Congenital Enterovirus Infection	Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleura...	ORPHA:292
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells...	OMIM:224120
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Inguinal hernia, Hyperhomocystinemia, Normochromic anemia, Failure to thr...	OMIM:614857
Short Syndrome	Inguinal hernia, Sensorineural hearing impairment, Abnormal dental enamel morphology, Lipodystrop...	ORPHA:3163
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Micrognathia, Poor suck, Respiratory distress	OMIM:300580
Aase-Smith Syndrome I	Abnormal pinna morphology, Cleft palate, Open mouth, Death in infancy	OMIM:147800
Distal Deletion 19P	Low-set, posteriorly rotated ears, Short philtrum, Sensorineural hearing impairment, Hypoplasia o...	ORPHA:96129
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Long philtrum, Small hypothenar emin...	OMIM:211960
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Short philtru...	OMIM:618316
Johnson Neuroectodermal Syndrome	Microtia, Everted lower lip vermilion, Anosmia, Choanal atresia, Atresia of the external auditory...	ORPHA:2316
Vici Syndrome	Everted upper lip vermilion, Wide nose, Sensorineural hearing impairment, High palate, Low-set ea...	OMIM:242840
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis...	ORPHA:955
Atelosteogenesis Type Iii	Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,...	ORPHA:56305
Holoprosencephaly	Cyclopia, Hypotelorism, Respiratory insufficiency, Hand polydactyly, Chorioretinal coloboma, Brac...	ORPHA:2162
Chromosome 18P Deletion Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Barrel-shaped chest, Tooth malpositio...	OMIM:146390
Marcus-Gunn Syndrome	Choanal atresia, Abnormal ear morphology, Cleft palate, Abnormality of the sense of smell, Cleft lip	ORPHA:91412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Pectus excavatum, Broad thumb, Long philtrum, Short 5th finger, Overlapping toe, Hip dislocation,...	ORPHA:508498
Floating-Harbor Syndrome	Kyphoscoliosis, Long nose, Dislocated radial head, Short metacarpal, Microdontia, Cochlear malfor...	ORPHA:2044
Coloboma Of Macula And Skeletal Anomalies	Cleft palate	OMIM:216800
Native American Myopathy	Progressive congenital scoliosis, Respiratory insufficiency, High palate, Camptodactyly, Congenit...	ORPHA:168572
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Platyspondyly, Narrow chest, Respiratory insufficien...	ORPHA:93317
Atypical Werner Syndrome	Rocker bottom foot, Delayed puberty, Premature graying of hair, Reduced bone mineral density, Cal...	ORPHA:79474
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Treacher Collins Syndrome 1	Cleft soft palate, Microtia, Narrow mouth, Choanal atresia, Atresia of the external auditory cana...	OMIM:154500
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Convex nasal ridge, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:300963
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune h...	OMIM:265380
Zimmermann-Laband Syndrome	Supernumerary tooth, Wide nose, Gingival fibromatosis, Anterior open-bite malocclusion, Sensorine...	ORPHA:3473
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:129490
Hartsfield Syndrome	Wide nose, Hypoplasia of the frontal bone, Low-set ears, Cleft upper lip, Cleft palate, Posterior...	OMIM:615465
Vulto-Van Silfhout-De Vries Syndrome	Thick lower lip vermilion, Mandibular prognathia, High palate, Tented upper lip vermilion, Aggres...	OMIM:615828
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity, EEG with centrotemporal focal spike waves	ORPHA:217377
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone...	ORPHA:47612
Mpi-Cdg	Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypothyroidism, Failure to thri...	ORPHA:79319
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Sensorineural hearing impairment, Obesity	OMIM:616756
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Severe periodontitis, Small earlobe, Microtia, Umbilical hernia, Intrauterine gr...	ORPHA:99843
Whipple Disease	Polydipsia, Anorexia, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Cachexia, Hypothyroidism...	ORPHA:3452
Vacterl/Vater Association	Occipital encephalocele, Single umbilical artery, Polyhydramnios, Anencephaly, Low-set, posterior...	ORPHA:887
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Low-set ears, Death in i...	ORPHA:1790
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Broad ribs, Hip dislocation, Cleft ...	OMIM:301066
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Genu recurvatum, Calcaneovalgus deformity, Pectus excavatum, Joint hypermob...	OMIM:225320
Hyperphosphatasia-Intellectual Disability Syndrome	Pectus excavatum, Shortening of all distal phalanges of the fingers, Bifid uvula, Broad philtrum,...	ORPHA:247262
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Premature birth, Tachycardia, Respirat...	ORPHA:70587
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Severe postnatal growth retardation, Low-set ears, Dep...	ORPHA:2399
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Severe X-Linked Mitochondrial Encephalomyopathy	Feeding difficulties in infancy, Respiratory distress	ORPHA:238329
Coffin-Siris Syndrome 12	Ridged cranial sutures, Sensorineural hearing impairment, Pectus excavatum, Broad thumb, Noncommu...	OMIM:619325
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge	OMIM:618302
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Abnormal pinna morphology, Large fleshy ears, Congenital hypothyroidism	ORPHA:352530
Alg3-Cdg	Osteopenia, Abnormality of the nose, Neural tube defect, Abnormality of the endocrine system, Abn...	ORPHA:79321
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ...	ORPHA:1572
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Obes...	OMIM:301013
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Hypothyroidism, Failure to thrive, Hearing impairment, ...	OMIM:610883
Hypomelanosis Of Ito	Radial deviation of finger, Thick lower lip vermilion, Scoliosis, Kyphosis, Hand polydactyly, Irr...	OMIM:300337
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Severe intrauterine growth retardation, Microdontia, Delayed skeletal maturation...	ORPHA:96182
Pachyonychia Congenita	Advanced eruption of teeth, Ear pain, Respiratory distress, Angular cheilitis, Natal tooth, Feedi...	ORPHA:2309
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Free Sialic Acid Storage Disease	Splenomegaly, Hydrops fetalis, Ascites, Hepatomegaly	ORPHA:834
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Fetal Akinesia Deformation Sequence	Polyhydramnios, Pterygium, Respiratory insufficiency, Scoliosis, Intestinal hypoplasia, Arthrogry...	ORPHA:994
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Lessel-Kubisch Syndrome	Premature graying of hair, Sparse pubic hair, Hypogonadism	OMIM:618681
Mosaic Trisomy 16	Abnormality of the nose, Single umbilical artery, Large placenta, Maternal diabetes, Meckel diver...	ORPHA:1708
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Limited mobility of proximal interphalangeal joint, Abnormal metacarpo...	ORPHA:85438
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Arthrogryposis, Distal, Type 5	Keratoconus, Astigmatism, Keratoglobus	OMIM:108145
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Bicoronal synosto...	ORPHA:93258
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:616099
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ...	OMIM:618282
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea...	OMIM:210900
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Flat cornea, Iris coloboma	OMIM:602499
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Catel-Manzke Syndrome	Low insertion of columella, Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, U...	OMIM:616145
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Underdeveloped nasal alae	OMIM:601355
Penoscrotal Transposition	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Pectus carinatum, Car...	ORPHA:2842
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Long philtrum, Encephalocele, Finger syndactyly, Delayed cranial suture closure, Low-set ears, De...	ORPHA:2211
Feingold Syndrome	Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Esophageal atresia, Abnormal f...	ORPHA:1305
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis, Diffuse palmoplantar hyperkeratosis	ORPHA:86918
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Wide mouth, Open mouth, Intestinal polyp, Long philtrum, Protuberant abdomen...	ORPHA:457485
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Anemia, Hepato...	OMIM:619418
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Neonatal death, Death in infancy	OMIM:613730
Cardiofaciocutaneous Syndrome 2	Low-set ears, Absent eyebrow, Curly hair, Posteriorly rotated ears, Sparse hair, Fine hair	OMIM:615278
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Vertigo, Pi...	ORPHA:54595
Aromatase Deficiency	Tall stature, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergon...	ORPHA:91
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Prematurely aged appearance, Wide anterior fontanel, Mandibula...	ORPHA:2963
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Short philtrum, Exaggerated cupid's bow, Low-set ears, Cleft palate, Deep philtrum,...	OMIM:620098
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Facial Spasm	Anisocoria	OMIM:134300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Protruding ear, Low-set ears, Downturned corners of mouth, Cleft palate, Deep philtru...	OMIM:618571
Pigmented Nodular Adrenocortical Disease, Primary, 1	Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente...	OMIM:610489
Cowden Syndrome 6	Thyroiditis, Scoliosis, High palate, Furrowed tongue, Pectus excavatum, Hamartomatous polyposis, ...	OMIM:615109
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Hearing impairment, Obesity, Overweight, Bulimia	OMIM:614651
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Cubitus valgus, Single transverse palmar crease, High palate, Pectus excavatum, S...	OMIM:618348
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Polyhydramnios, Hydrops fetalis	ORPHA:3405
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Hearing abnormality, Respiratory distress, Aplasia/Hypoplasia of the earlobes, Nar...	ORPHA:1555
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Lop ear, Abnormal finger morphology, Underdev...	ORPHA:436003
Popliteal Pterygium Syndrome	Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnathia, Lower lip pit	OMIM:119500
Pearson Syndrome	Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Dysphagia, Splenomeg...	ORPHA:699
Barth Syndrome	Hypochromic microcytic anemia, Failure to thrive, Macrotia, Elevated monolysocardiolipin/cardioli...	OMIM:302060
Tempi Syndrome	Hemangioma, Transudative pleural effusion, Ascites	ORPHA:284227
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Aortic regurgitation, Short philtrum, Olig...	OMIM:609460
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal vertebral morphology, Abnormal foot morphology, Spina bifida occul...	ORPHA:64754
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Hepatic cysts, Lymphopenia	OMIM:617425
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Hepato...	OMIM:251110
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Hearing impairment, Micrognathia, Cleft palate, Short philtrum	OMIM:619074
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent otitis media, Downturned corners of mouth, Broad nasal tip, Posteriorly rotated ears, S...	OMIM:619680
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Broad alveolar ridges, Hypertension, Accessor...	ORPHA:2750
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Hypodontia, Adactyly, Split hand, High palate, ...	ORPHA:989
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
C Syndrome	Bilateral single transverse palmar creases, Dislocated radial head, Pectus excavatum, Death in in...	ORPHA:1308
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Combined Oxidative Phosphorylation Deficiency 54	Absence of acoustic reflex, Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Obe...	OMIM:619737
Gaucher Disease Type 2	Abnormal pattern of respiration, Dysphagia, Respiratory distress	ORPHA:77260
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Long nose, Chronic otitis media, Proximal placement o...	ORPHA:261211
Monosomy 9P	Bilateral single transverse palmar creases, Proximal placement of thumb, Microtia, Long philtrum,...	ORPHA:261112
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Lymphangiectasis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatomegaly, Failure to...	OMIM:602579
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Delayed skeletal matura...	OMIM:612289
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Abnormality of the palmar creases, Mandibular prognathia, Thyroid hypoplasia, Cal...	ORPHA:521445
Postsynaptic Congenital Myasthenic Syndromes	Scoliosis, Thoracic kyphoscoliosis, High palate, Triceps weakness, Abnormality of the musculature...	ORPHA:98913
Sympathetic Ophthalmia	Posterior uveitis, Anterior chamber cells, Corneal keratic precipitates, Cataract, Posterior syne...	ORPHA:79098
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the ...	ORPHA:2916
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Kyphosis, Achilles tendon contracture, Thigh h...	OMIM:606612
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Short philtrum, Gastroesophageal reflux, High palate, Everted lower lip vermilion, Low-set ears, ...	OMIM:616579
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Multiple joint dislocation, Small pituitary gland, Dental crowding, Hyperlo...	OMIM:619503
46,Xy Sex Reversal 4	Long philtrum, Recurrent otitis media, Anteverted nares, Sensorineural hearing impairment, Microt...	OMIM:154230
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse eyebrow, Tiger tail banding, Sparse hair	OMIM:619692
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ...	OMIM:603233
Poems Syndrome	Abnormality of the endocrine system, Ascites, Respiratory insufficiency due to muscle weakness, S...	ORPHA:2905
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Wrist flexion contracture, Macrotia, Obesity, Flexion contracture, Restlessnes...	OMIM:300055
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Short nasal bridge, Umbi...	OMIM:130720
Pseudotrisomy 13 Syndrome	Cyclopia, Hypotelorism, 2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:264480
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Pseudomyxoma Peritonei	Ascites	ORPHA:26790
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Amelia, Low-set ears, Decreased skull ossificat...	OMIM:601163
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
19P13.3 Microduplication Syndrome	Short philtrum, Episodic vomiting, Gastroesophageal reflux, Microtia, Narrow mouth, Low-set ears,...	ORPHA:447980
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Polyhydramnios, Respiratory insufficiency, Ascites, Portal hypertension...	ORPHA:367
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thick lower lip vermilion, Anteverted nares, Gingival overgrowth, Sensorineural hearing impairmen...	OMIM:220500
Thoraco-Abdominal Enteric Duplication	Meningocele, Respiratory insufficiency, Missing ribs, Intestinal malrotation, Camptodactyly of fi...	ORPHA:1759
Clark-Baraitser Syndrome	Hyperactivity, Low-set ears, Obesity, Large earlobe, Aggressive behavior	OMIM:617752
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ...	OMIM:103580
Restrictive Dermopathy	Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Decreased skull ossification, Structu...	ORPHA:1662
Vacterl With Hydrocephalus	Hypoplasia of the radius, Retrognathia, Aqueductal stenosis, Single umbilical artery, Esophageal ...	ORPHA:3412
Benign Schwannoma	Abnormality of the twelfth cranial nerve, Intestinal polyposis, Peripheral schwannoma, Abnormal c...	ORPHA:252164
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Failure to thrive, Lethargy, Postprandial hyper...	ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Dyskeratosis Congenita	Premature graying of hair, Neoplasm of the pancreas, Tracheoesophageal fistula, Bone marrow hypoc...	ORPHA:1775
Proximal Spinal Muscular Atrophy	Decreased fetal movement, Distal lower limb muscle weakness, Distal upper limb muscle weakness, M...	ORPHA:70
Autosomal Agammaglobulinemia	Chronic otitis media, Abnormal pinna morphology, Failure to thrive, Cellulitis, Hepatitis, Neutro...	ORPHA:33110
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Small earlobe, Mandibular prognathia, Prominent f...	ORPHA:2920
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short stature, Hypo...	ORPHA:2491
Phenylketonuria	Hyperactivity, Generalized hypopigmentation, Compulsive behaviors, Attention deficit hyperactivit...	OMIM:261600
Primary Dystonia, Dyt4 Type	Dysphagia, Open mouth, Respiratory distress	ORPHA:98805
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Hydrocephalus, Thin ribs, Decreased skull ossification, Ank...	OMIM:602361
Cornelia De Lange Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Sensori...	ORPHA:199
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating...	OMIM:617388
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Death in infancy, Feeding difficulties, Irregular respiration	OMIM:604377
Distal Deletion 9P	Short nose, High, narrow palate, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ear...	ORPHA:1642
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Chronic otitis media, Sinusitis, Epistaxis, Hematochezia, Abn...	ORPHA:906
Choanal Atresia	Polydactyly, Tracheomalacia, Nasal congestion, Craniosynostosis, Cyanosis, Chronic sinusitis	ORPHA:137914
Lambert Syndrome	Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia	ORPHA:1296
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Sensorineural hearing impair...	OMIM:211530
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Micrognathia, Smooth philtrum, Respiratory distress	OMIM:608799
Isotretinoin-Like Syndrome	Gastroesophageal reflux, Aplasia/Hypoplasia of the inner ear, Anteverted nares, Microtia, Bilater...	ORPHA:2306
Severe Intellectual Disability And Progressive Spastic Paraplegia	Excessive shyness, Short stature, Dystonia, Motor stereotypy, Overweight	ORPHA:280763
Pearson Marrow-Pancreas Syndrome	Anorexia, Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyper...	OMIM:557000
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell receptor ex...	OMIM:617341
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes	ORPHA:464370
Hawkinsinuria	Failure to thrive, Fine hair, Sparse hair	ORPHA:2118
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S...	OMIM:224750
Incontinentia Pigmenti	Cerebral ischemia, Umbilical hernia, Osteolysis, Hearing abnormality, Scoliosis, Absent hand, Ret...	ORPHA:464
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Short philtrum, Wide nose, Finger syndactyly, Exaggerated cupid's...	ORPHA:284160
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno...	OMIM:615934
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Sensorineural hearing impairment, Absent brainstem auditory responses, Hearing impai...	OMIM:609136
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Dental crowding, Sensorineural hearing impairment, Hyperlo...	ORPHA:2789
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He...	ORPHA:369
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Anteverted nares, Micrognathia, Protuberant abdomen, Depressed nasal bridge	OMIM:618272
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, T lymphocytopenia, Recurrent sinusitis, Lymphopenia, Metaphyseal irregularity, Na...	OMIM:607944
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Cryptorchidism, ...	OMIM:612447
Dubowitz Syndrome	Aplastic anemia, Agenesis of permanent teeth, Delayed skeletal maturation, Syndactyly, Intrauteri...	OMIM:223370
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Hydrops fetalis, Atrial flutter, Oligohydramnios, Lymphedema	OMIM:601927
Cowden Syndrome 1	Pectus excavatum, Kyphosis, Ovarian cyst, Lymphopenia, Subcutaneous lipoma, Thyroiditis, Scoliosi...	OMIM:158350
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Decreased testicular size, P...	ORPHA:398079
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Camptodactyly of finger, Premature birth, Decreased...	OMIM:604320
Buratti-Harel Syndrome	Gastroesophageal reflux, Microtia, High palate, Low-set ears, Velopharyngeal insufficiency, Bifid...	OMIM:619314
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Hearing ...	ORPHA:2169
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Recurrent otitis media, Gastroesophageal reflux, Low hanging columella, Low-...	OMIM:618494
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy	ORPHA:133
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Thrombocytopenia, Lymphopenia	OMIM:618624
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Sandal gap, Single transverse palmar crease,...	OMIM:614800
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Meckel diverticulum, Abnormality of the ...	ORPHA:84
Lymphatic Malformation 1	Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema	OMIM:153100
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he...	ORPHA:895
Lead Poisoning	Anorexia, Abdominal distention, Delayed eruption of teeth, Abdominal pain, Miscarriage, Vomiting,...	ORPHA:330015
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Sparse body hair, Hypogonadism, Abdominal obesity, Cryptorchidism, Sma...	OMIM:300869
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Anosmia, Jo...	ORPHA:1295
Infantile Systemic Hyalinosis	Steatorrhea, Joint stiffness, Severe short stature, Osteoporosis, Micromelia, Abnormal dental mor...	ORPHA:2176
Acalvaria	Talipes, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly	ORPHA:945
Cebalid Syndrome	Congenital diaphragmatic hernia, Abnormal pinna morphology, Low-set ears, Polyphagia, Hearing imp...	OMIM:618774
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Absent radius	OMIM:602200
Teebi-Shaltout Syndrome	Rocker bottom foot, Pectus carinatum, Small earlobe, Pectus excavatum, Aortic valve stenosis, Wid...	OMIM:272950
Fetal Hydantoin Syndrome	Short nose, Hearing abnormality, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Ev...	ORPHA:1912
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro...	OMIM:610706
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Death in childhood, Tented upper lip vermilion, Restlessness, Feeding difficulties, Thin upper li...	OMIM:619517
Hemochromatosis, Type 1	Hepatomegaly, Hepatocellular carcinoma, Pleural effusion, Ascites, Splenomegaly, Testicular atrophy	OMIM:235200
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m...	OMIM:614851
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, T lymphocytopenia,...	OMIM:618223
Genitopatellar Syndrome	Hypoplastic ischia, Malrotation of small bowel, Patellar dislocation, Scoliosis, Hearing impairme...	OMIM:606170
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Long nose, Neoplasm of the tongue, Thyr...	ORPHA:3047
Sheehan Syndrome	Normochromic anemia, Sensorineural hearing impairment, Vertigo, Decreased circulating cortisol le...	ORPHA:91355
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs, A...	OMIM:162370
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Pectus excavatum, Kyphosis, Generalized osteoporos...	OMIM:259050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Ectopic ossification, Short stature, Brachydactyly, Short...	ORPHA:79445
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef...	ORPHA:439
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Hepatomegaly, Hyperhomocystinemia, Pancytopenia, Microtia, Megalo...	OMIM:277380
Faciocardiomelic Syndrome	Polydactyly, Osteopenia, Narrow chest, Slender long bone, Anteverted nares, Cuboid-shaped vertebr...	OMIM:612731
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Abnormal pinna morphology, Stippled calcification in carpal bones, Edema, Patella...	OMIM:302960
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon...	OMIM:609638
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Death in infancy, Intestinal malrotation, Aortic valve ste...	ORPHA:2308
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Absence of pubertal development, Obesity, Diabetes mel...	OMIM:610628
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Rafiq Syndrome	Low-set ears, Macrotia, Obesity, Flexion contracture, Truncal obesity, Aggressive behavior	OMIM:614202
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Microdontia, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Aplasia Cutis Congenita	Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly, Spinal dysraphism, Erythema	ORPHA:1114
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Microtia, Abnormal pelvic girdle bone mo...	ORPHA:1508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:613154
Acth-Independent Macronodular Adrenal Hyperplasia	Agitation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hy...	OMIM:219080
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Polyhydramnios, Narrow chest, Short clavicles, Sh...	OMIM:617088
Hydrolethalus Syndrome 2	Micrognathia, Cleft palate	OMIM:614120
Trisomy 5P	Protruding ear, Obesity	ORPHA:1742
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Severe postnatal ...	ORPHA:319675
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Eosinophilic granuloma, T lymphocytopenia, Thromb...	OMIM:616433
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, J...	ORPHA:309282
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Short philtrum, Anteverted nares, High palate, Tented upper lip vermilion, Feeding di...	OMIM:614105
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis...	ORPHA:217085
Kury-Isidor Syndrome	Rocker bottom foot, Widely spaced teeth, Recurrent otitis media, Proximal placement of thumb, Tri...	OMIM:619762
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiple...	OMIM:601809
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Finger syndactyly, Wide anterior fontanel, Abnormal pinna morph...	ORPHA:313781
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Abnormal circulating calcium-phosphate regulating hor...	ORPHA:50810
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Long philtrum, Genu valgum, Widely spaced teeth, Spatulate ribs, Aor...	OMIM:619698
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair	OMIM:227260
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Brittle hair, Absent eyelashes, Abnormal pinna morphology, Absent eyebrow, Sparse...	ORPHA:2890
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Smith-Kingsmore Syndrome	Long philtrum, Short proximal phalanx of finger, Short nose, Rhizomelia, Deep palmar crease, Deep...	OMIM:616638
Bresek Syndrome	Aganglionic megacolon, Low-set ears, Hearing impairment, Cleft palate, Neonatal death, Protruding...	ORPHA:85284
Brunet-Wagner Neurodevelopmental Syndrome	Thin eyebrow, Self-injurious behavior, Low anterior hairline, Motor stereotypy	OMIM:619690
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Anteverted ears, Syndactyly, Clinodactyly	OMIM:618087
Aspergillosis	Abnormal long bone morphology, Pleural effusion, Abnormal esophagus morphology, Abnormal rib morp...	ORPHA:1163
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Protrud...	ORPHA:3464
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, Ectodermal dysplasia, 4-5 toe s...	OMIM:613573
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Everted lower lip vermilion, Death in infancy	OMIM:242500
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Aggressive behavior, Abnormal circulating acylcarnitine concentration, Overfolded helix, Obesity,...	OMIM:620191
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Limita...	ORPHA:3265
Intellectual Developmental Disorder, Autosomal Dominant 65	Short philtrum, Low-set ears, Compulsive behaviors, Attention deficit hyperactivity disorder, Mac...	OMIM:619320
Alazami Syndrome	Postnatal growth retardation, Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnorm...	ORPHA:319671
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Arachn...	OMIM:613406
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Esophageal atresia, Sensorineural hearing impa...	OMIM:206900
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Hearing impairment, Syndactyly, Brachydactyly, Clinodactyly	OMIM:610023
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Gingival overgrowth, Scoliosi...	OMIM:230600
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Trisomy 17P	Orofacial cleft, Wide nose, Thick nasal alae, High palate, Narrow mouth, Low-set ears, Hearing im...	ORPHA:261290
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t...	ORPHA:364055
Astley-Kendall Dysplasia	Micromelia, Disproportionate short-limb short stature, Epiphyseal stippling	ORPHA:85175
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, Open bite, High ...	ORPHA:1974
Enlarged Parietal Foramina	Vomiting, Cleft lip, Cleft palate	ORPHA:60015
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Disproportionate short-limb short stature, Bowed humerus, Narrow chest, Smal...	OMIM:619479
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Collectionism, Di...	ORPHA:275864
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha...	OMIM:234050
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Anemia, Motor stereotypy, Neutropenia	OMIM:618067
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis...	ORPHA:217093
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Conductive hearing impairment, Sparse body hair, Sparse hair, Aplasi...	ORPHA:1006
Tetraamelia Syndrome 1	Single naris, Low-set ears, Choanal atresia, Anal atresia, Cleft upper lip, Micrognathia, Cleft p...	OMIM:273395
6P22 Microdeletion Syndrome	Abnormal palate morphology, Finger syndactyly, Hydrocephalus, Overfolded helix, Low-set ears, Hea...	ORPHA:251046
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Scoliosis, Flexion contracture, Clinodactyly, Syndactyly	OMIM:619091
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Bone Marrow Failure Syndrome 3	Amelogenesis imperfecta, Aplastic anemia, Hyperechogenic pancreas, Neutropenia, Acute myeloid leu...	OMIM:617052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 3	Splenomegaly, Hepatomegaly, Ascites, Bile duct proliferation	OMIM:602347
Pallister-Killian Syndrome	Kyphoscoliosis, Everted lower lip vermilion, Aortic valve stenosis, Intestinal malrotation, Bifid...	OMIM:601803
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Polyhydramnios, Bowed humerus, Proximal radio-ulnar s...	OMIM:609465
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:90117
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Cachexia, Splenomegaly, Abnormal blood ion concentration, Ty...	ORPHA:37042
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Single umbilical artery, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Anal atre...	OMIM:271520
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, EEG with focal spikes, Interictal epilepti...	ORPHA:163681
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Sensorineural hearing impairment, Feeding difficulties, Restlessness, Hypod...	ORPHA:544503
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance	ORPHA:90154
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume...	ORPHA:84064
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch...	OMIM:613265
Double Outlet Right Ventricle	Narrow mouth, Intestinal malrotation, Cleft palate, Feeding difficulties, Abnormality of cartilag...	ORPHA:3426
Bardet-Biedl Syndrome 19	Hearing impairment, Obesity, Hepatic steatosis, Hypogonadism	OMIM:615996
Craniolenticulosutural Dysplasia	High iliac wing, Bifid uvula, Wide mouth, Joint hypermobility, Long philtrum, Delayed closure of ...	OMIM:607812
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased specific pneumococcal antibody level...	ORPHA:183675
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, ...	OMIM:619638
Holoprosencephaly 14	Proboscis, Anteverted nares, Low-set ears, Macrotia, Cleft palate, Cleft lip, Median cleft upper lip	OMIM:619895
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Asymmetry of the ears, Pectus excavatum, Cervica...	ORPHA:508488
Limb-Mammary Syndrome	Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly...	OMIM:603543
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Tarsal synosto...	ORPHA:1657
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Polyhydramnios, Death in childhood, Cardiomyopathy, Death in infancy, Neonatal death,...	OMIM:614922
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res...	ORPHA:254875
Non-Acquired Isolated Growth Hormone Deficiency	Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab...	ORPHA:631
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Bifid nasal tip, Pectus excavatum, Umbilical hernia, Joint hypermobility, ...	OMIM:304110
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Abnormal pinna morphology, Severe intrauterine growth retardation, Wr...	OMIM:268300
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Episodic hemolytic anemia, Increa...	ORPHA:251004
Gitelman Syndrome	Polydipsia, Delayed puberty, Neoplasm of the pancreas, Vertigo, Parathyroid adenoma, Type I diabe...	ORPHA:358
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An...	OMIM:259710
Congenital Myopathy 21 With Early Respiratory Failure	Intrauterine growth retardation, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:620326
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Gastroesophageal reflux, Anteverted nares, Attach...	OMIM:616920
46,Xy Sex Reversal 6	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Hirsutism, Chordee, Sparse axillary hair, ...	OMIM:613762
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Cutis marmor...	OMIM:610759
Myotonic Dystrophy 2	Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas...	OMIM:602668
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short metacarpal, Umbilical hernia, Joint hypermobili...	ORPHA:1001
Wolman Disease	Abdominal distention, Steatorrhea, Nausea and vomiting, Esophageal varix, Malnutrition, Hepatic f...	ORPHA:75233
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Pectus excavatum, Everted lower lip vermilion, Microdonti...	OMIM:218330
Nephrotic Syndrome, Type 11	High palate, Micrognathia, Cleft palate, Smooth philtrum, Cleft lip	OMIM:616730
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Cyanosis, Iron deficiency anemia, Clubbing...	ORPHA:2038
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit...	ORPHA:534
Mannosidosis, Alpha B, Lysosomal	Widely spaced teeth, Increased vertebral height, Pectus carinatum, Mandibular prognathia, Femoral...	OMIM:248500
Chitayat Syndrome	Thick vermilion border, Respiratory distress	OMIM:617180
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Esophageal atresia, Wide nose, Low-set ears, Choanal atresia, Tracheoesophageal fis...	OMIM:619227
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short thorax, Short long bone, Vertebral segmentation defect, Death in infancy, Talipes equinovar...	OMIM:618845
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Fraser Syndrome	Dental crowding, Abnormal pinna morphology, Microtia, Myelomeningocele, Death in infancy, Umbilic...	ORPHA:2052
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Metaphyseal cuppin...	OMIM:619073
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Neoplasm of the pancreas, Ovarian neoplasm, Ascites, Brain neopla...	ORPHA:370348
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Aortic v...	OMIM:182250
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Pes cavus, Abnormal vertebral morphology, Abnormal metacarpal morphology, Short hallux, Finger sy...	ORPHA:3224
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ...	OMIM:104100
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Impaired glucose tolerance, Obesity, Pituitary adeno...	OMIM:219090
Septo-Optic Dysplasia Spectrum	Polydipsia, Maternal diabetes, Diabetes insipidus, Sensorineural hearing impairment, Anterior pit...	ORPHA:3157
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Mandibular prognathia, High palate, Low-set ears, Agenesis of perman...	OMIM:618644
Luscan-Lumish Syndrome	Recurrent otitis media, Overgrowth, Polyphagia, Obesity, Polycystic ovaries, Aggressive behavior	OMIM:616831
Meckel Syndrome, Type 9	Occipital encephalocele, Sonographic non-visualized fetal bladder, Limb undergrowth, Talipes equi...	OMIM:614209
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Cleft palate, Short philtrum, Natal tooth, Concave nasal ridge	OMIM:617337
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Decreased body wei...	OMIM:609053
Viss Syndrome	Rocker bottom foot, Retrognathia, Recurrent joint dislocation, Pectus carinatum, Pectus excavatum...	OMIM:619472
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Trichothiodystrophy 3, Photosensitive	Low-set ears, Bilateral cryptorchidism, Hearing impairment, Failure to thrive, Lymphopenia, Neutr...	OMIM:616395
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Narrow foot, Pectus carinatum, Dental crowding, Pectus excavatum, A...	OMIM:154700
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity, Low-set, posteriorly rotated ears	ORPHA:254525
Intellectual Developmental Disorder With Autism And Macrocephaly	Tall stature, Recurrent hand flapping, Posteriorly rotated ears, Overweight, Pica	OMIM:615032
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macrotia, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism	OMIM:300238
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Hypercholest...	ORPHA:633
Mirage Syndrome	Hyperkalemia, Anemia, Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, ...	OMIM:617053
Laryngotracheal Angioma	Intercostal retractions, Respiratory distress, Vomiting, Apnea, Feeding difficulties	ORPHA:137935
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Man1B1-Cdg	Low-set ears, Macrotia, Truncal obesity, Polyphagia	ORPHA:397941
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Breech presentation, Anencephaly, Intestinal...	OMIM:249000
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin...	OMIM:615885
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Hearing impairment, Sparse hair, Attention deficit hyperactivity disorder...	ORPHA:284180
Microphthalmia, Syndromic 2	Sandal gap, Sensorineural hearing impairment, Bifid nasal tip, Pulmonic stenosis, Aortic valve st...	OMIM:300166
Placental Insufficiency	Hypoxemia, Insulin resistance, Small for gestational age	ORPHA:439167
Hereditary Bullous Dystrophy, Macular Type	Short finger, Acrocyanosis, Short stature, Growth delay, Decreased testicular size, Heart murmur,...	ORPHA:1867
Esophageal Atresia	Gastroesophageal reflux, Respiratory distress, Barrett esophagus, Esophagitis, Tracheoesophageal ...	ORPHA:1199
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc...	OMIM:193510
Oculocerebrocutaneous Syndrome	Cleft palate, Cleft ala nasi	OMIM:164180
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Hy...	ORPHA:1328
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Single naris, Tooth malposition, Hyposmia, Anosmia, Submucous cleft hard palate, Bifid uvula, Cle...	ORPHA:2250
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Low-set ears, Median cleft palate, Depressed nasal bridge	OMIM:119800
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Pleural effusion, Ascites, Lymphoma, Angioedema, Pericardial effusion, Splenomegaly	ORPHA:36412
Nephronophthisis 2	Pulmonary insufficiency, Respiratory insufficiency, Hypertension, Respiratory failure, Oligohydra...	OMIM:602088
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Short nose, Clinodactyly of the 5th finger, Scoliosis, Dental crowding, ...	ORPHA:476126
Limb-Mammary Syndrome	Protruding ear, Cleft hard palate, Clinodactyly of the 5th finger, Breast aplasia, Hypodontia, Ol...	ORPHA:69085
Spinal muscular atrophy, type I, with congenital bone fractures	High palate, Respiratory distress	OMIM:271225
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Gastroesophageal reflux, Anteverted nares, Mandibular prognathia, Exaggerated cupid's bow, Narrow...	OMIM:619720
22Q11.2 Duplication Syndrome	Wide nose, Depressed nasal ridge, Hearing impairment, Micrognathia, Cleft palate, Smooth philtrum...	ORPHA:1727
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia, Gait disturbance	OMIM:604484
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microtia, Microdontia, Split foot, Abnormal nasopharynx morphology, Decreased response to growth ...	OMIM:129900
Prader-Willi Syndrome Due To Translocation	Retrognathia, Head-banging, Everted lower lip vermilion, Bifid uvula, Wide mouth, Alveolar ridge ...	ORPHA:177907
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Polyhydramnios, Respiratory insufficiency, Thin ribs, High palate, Joint hypermobil...	ORPHA:456328
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster...	OMIM:617751
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Dravet Syndrome	Cyanotic episode, Limited knee extension, Tibial torsion, Pes planus, Pes valgus	ORPHA:33069
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Pes cavus, Equinovarus deformity, Hypoparathyroidism, Respiratory insuf...	ORPHA:746
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastrostomy tube feeding in infancy, Everted upper lip vermilion, Absent cupid's bow, Widely spac...	ORPHA:513456
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:2590
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Secondary amenorrhea, Hypergonadotropic hypogonadism, Sparse hair, Abnormality of the ear, Polycy...	OMIM:268020
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri...	OMIM:277320
Congenital Myopathy 17	Overlapping fingers, Polyhydramnios, Narrow chest, Respiratory insufficiency, Mandibular prognath...	OMIM:618975
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re...	OMIM:300888
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,...	OMIM:607323
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Azoospermia, Hypoplasia of ...	ORPHA:432
Combined Oxidative Phosphorylation Deficiency 5	Edema, Ascites	OMIM:611719
Hypertrichosis Cubiti	Rhizomelia, Micromelia, Delayed skeletal maturation, Severe short stature, Prominent nasal bridge...	ORPHA:2220
Loeys-Dietz Syndrome 6	Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri...	OMIM:619656
Nipah Virus Disease	Anorexia, Nausea and vomiting, Vertigo, Respiratory distress	ORPHA:99825
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Cryptorchidism, Decreased circulating IgG level, Decreased circu...	OMIM:607143
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hearing impairme...	OMIM:209900
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Decreased testicular size, I...	ORPHA:398069
Tyshchenko Syndrome	Narrow palate, High, narrow palate, High palate, Low-set ears, Cleft palate, Posteriorly rotated ...	OMIM:615102
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Gastroesophageal reflux, Intestinal malrotation, Downturned co...	ORPHA:457193
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen...	ORPHA:319218
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Agitation, Protruding ear, Self-injurious behavior, Aggressive behavior	OMIM:616116
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Nijmegen Breakage Syndrome	Retrognathia, Anal stenosis, Hearing abnormality, Non-midline cleft of the upper lip, Chronic dia...	ORPHA:647
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Low-set, posteriorly rotated ears, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia...	ORPHA:228426
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th...	ORPHA:581
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Angelman Syndrome	Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Constip...	OMIM:105830
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma...	OMIM:232220
Ablepharon Macrostomia Syndrome	Thin vermilion border, Breast hypoplasia, Excessive wrinkled skin, Anteverted nares, Underdevelop...	ORPHA:920
Wieacker-Wolff Syndrome, Female-Restricted	Anteverted nares, Low-set ears, Downturned corners of mouth, Cleft palate, Posteriorly rotated ea...	OMIM:301041
Thyroid Hypoplasia	Constipation, Abdominal distention, Macroglossia	ORPHA:95720
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Disinhibition, Dysphagia, Motor stereotypy	OMIM:612069
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Polyhydramnios, Clinodactyly of the 5th finger, Esophageal atresia, Lumbar hemiverteb...	OMIM:619859
Inflammatory Pseudotumor Of The Liver	Vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:90003
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Decreased testicular size, Hearing impairment, Large earlobe, Thick eyebrow,...	ORPHA:127
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Premature birth, Absent thumb, ...	OMIM:105650
Acute Lung Injury	Edema, Respiratory failure, Diffuse alveolar hemorrhage, Shock	ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Hypertrophic cardiomyopathy, Death in infancy	OMIM:619386
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Pectus excavatum, Aortic valve stenosis, Joint stiffn...	OMIM:231050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ...	OMIM:226300
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate	ORPHA:33001
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Low-set ears, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair, Poste...	OMIM:616819
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Sensorineural hearing impair...	ORPHA:79324
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Long philtrum, Tented upper lip vermilion	OMIM:619972
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Athetosis, Abnormal head movements, Dystonia, Self-injurious behavior, Aggressive ...	ORPHA:382
Fliedner-Zweier Syndrome	Pes planus, Meningocele, Scoliosis, High palate, Pectus excavatum, Tracheoesophageal fistula, Ana...	OMIM:620511
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure, Hydrops fetalis, Cardiomyopathy	ORPHA:88618
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Hyp...	ORPHA:3077
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Protruding ear, Hyperinsulinemia,...	OMIM:620185
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Hemolytic anemia	OMIM:177000
Episodic Ataxia Type 4	Vertigo, Abnormal head movements	ORPHA:79136
Dentici-Novelli Neurodevelopmental Syndrome	Hearing impairment, Macrotia, Motor stereotypy	OMIM:619877
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Thin vermilion border, Agitation, High palate, Apnea, Tented upper lip vermilion, Feeding difficu...	OMIM:618056
Pontine Tegmental Cap Dysplasia	Ankle clonus, Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Rib fusion	OMIM:614688
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Thoracoabdominal Syndrome	Cleft upper lip, Cleft palate	OMIM:313850
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Reduction of neutrophil motility, Compulsive behaviors, Neutrophilia, Cel...	OMIM:266265
Myasthenic Syndrome, Congenital, 22	Tented upper lip vermilion, Feeding difficulties	OMIM:616224
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Posteriorly rotated ears, Thromboc...	OMIM:301110
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Long nose, Mandibular prognathia, Lymphedem...	OMIM:137940
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Iniencephaly	Rocker bottom foot, Orofacial cleft, Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydr...	ORPHA:63259
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thick lower lip vermilion, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Everted...	OMIM:620075
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines, Recurrent otitis media	OMIM:301076
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce...	OMIM:277460
Pfeiffer Syndrome Type 3	Respiratory distress, Stenosis of the external auditory canal, High palate, Low-set ears, Anal at...	ORPHA:93260
17Q12 Microduplication Syndrome	Self-injurious behavior, Cleft palate, Tracheoesophageal fistula	ORPHA:261272
Bardet-Biedl Syndrome 7	Obesity, Hypogonadism	OMIM:615984
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopen...	OMIM:614520
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate	OMIM:153400
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, S...	ORPHA:3226
Keutel Syndrome	Recurrent otitis media, Wide nose, Underdeveloped nasal alae, Pulmonary arterial hypertension, Sh...	ORPHA:85202
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Dystonia, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior	OMIM:600795
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Death in childhood, Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Hearing impairment	OMIM:301108
Monosomy 13Q34	Abnormal earlobe morphology, Obesity, Hypercalcemia, Posteriorly rotated ears, Insulin resistance...	ORPHA:96168
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Cronkhite-Canada Syndrome	Anorexia, Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Cachexia, Dystrophic toenail...	ORPHA:2930
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the...	OMIM:611134
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Delayed skeletal maturation, Decreased fetal movement...	ORPHA:264200
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Pectus carinatum, Anteverted nares, Sensorineural hearing impairment, Low-set ears, S...	OMIM:616430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cleft upper lip, Cleft palate, Macroglossia	OMIM:613150
Menkes Disease	Abnormal metaphysis morphology, Abnormal palate morphology, Gastrointestinal hemorrhage, Tarsal s...	ORPHA:565
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Abnormal s...	ORPHA:293978
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Severe intrauterine growth retardation, Pulmonic stenosis, Short hu...	ORPHA:3455
Leprechaunism	Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Low-set...	ORPHA:508
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body...	OMIM:602400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Abnormal pinna morphology, Hyperalaninemia, Failure to thrive, Hyperammonemia, Dysphagia, Protrud...	OMIM:615471
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A...	ORPHA:79402
Aymé-Gripp Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Microtia, Pericarditis, Long philtrum, Cran...	ORPHA:1272
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Sev...	OMIM:126550
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Anemia of inadequate production, Reticulocytosis, Growth delay, Short stature, ...	OMIM:615631
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ...	OMIM:618213
Ectodermal Dysplasia With Mental Retardation And Syndactyly	2-3 toe syndactyly, Ectodermal dysplasia, Open mouth, Abnormality of the ear, 3-4 finger syndacty...	OMIM:600906
Pleural Mesothelioma	Dyspnea, Dysphagia, Respiratory distress	ORPHA:50251
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Low-set ears, Abnormality of the dentition, Anal atresia, Hearing impairmen...	OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Reduced social reciprocity, Overfolded helix, Aggressive behavior	OMIM:616083
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Velocardiofacial Syndrome	Retrognathia, Velopharyngeal insufficiency, Pierre-Robin sequence, Cleft palate, Open mouth, Abno...	OMIM:192430
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Tall stature, Hyperactivity, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ear...	OMIM:618430
Prune Belly Syndrome	Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h...	ORPHA:2970
Koolen-De Vries Syndrome Due To A Point Mutation	Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, Everted lower lip v...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, Everted lower lip v...	ORPHA:363958
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Sparse pubic hair, Female infertility, Am...	OMIM:110100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microtia, Microdontia, Split foot, Abnormal nasopharynx morphology, Decreased...	OMIM:604292
Talonavicular Coalition	Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm...	OMIM:186750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve...	ORPHA:83617
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy	OMIM:618504
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Delayed skeletal maturation, Neutropenia, Enlargement ...	OMIM:260400
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia	ORPHA:103910
Branchiooculofacial Syndrome	Premature graying of hair, Proximal placement of thumb, Sensorineural hearing impairment, Microti...	OMIM:113620
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Intellectual Developmental Disorder, X-Linked 98	Postnatal growth retardation, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing...	OMIM:300912
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Vasculitis, Hypotension, Respiratory failure, Shock	ORPHA:70578
Ramos-Arroyo Syndrome	Aganglionic megacolon, Respiratory distress, Smooth tongue, Self-mutilation, Narrow mouth, Bilate...	ORPHA:1051
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Eosinophilia, Acute lymphoblastic leukemia, Lymphopenia,...	ORPHA:486
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Generalized Arterial Calcification Of Infancy	Mixed hearing impairment, Sensorineural hearing impairment, Hypertension, Ascites, Pancreatic cal...	ORPHA:51608
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Absent toe, Abnormality of the upper limb, Ascites, Premature birth,...	ORPHA:974
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali...	OMIM:228300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:293987
Angelman Syndrome	Optic atrophy, Precocious puberty in females, Tongue thrusting, Hyperactivity, Recurrent hand fla...	ORPHA:72
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Respiratory distress, Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor ap...	ORPHA:927
Coffin-Siris Syndrome 7	Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma...	OMIM:618027
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hyperactivity, Abnormal pinna morphology, Decreased testicular size, Hypogonadis...	OMIM:300354
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Motor stereotypy	OMIM:613443
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Superior pectus carinatum, Microtia, Long philtrum, Breast hypoplasia, Scolio...	OMIM:601353
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Perito...	ORPHA:391673
Hypohidrotic Ectodermal Dysplasia	Anteverted nares, Abnormality of the dentition, Tooth agenesis, Abnormal dental morphology, Hypop...	ORPHA:238468
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Macrotia, Dystonia, Motor stereotypy, Self-injurious behavior, Bruxism	OMIM:618004
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Mediastinal lymphadenopathy, Lymphadenopathy...	ORPHA:199241
Kabuki Syndrome 2	Protruding ear, Cupped ear, Recurrent otitis media, High palate, Low-set ears, Depressed nasal ti...	OMIM:300867
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Thick lower lip vermilion, Abnormal foot morphology, Mandibular prognathia, Anosmia, Short statur...	OMIM:210745
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Hyperactivity, Camptodactyly, Hearing impa...	ORPHA:412035
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Smith-Lemli-Opitz Syndrome	Breech presentation, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Hyperte...	OMIM:270400
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Prominent ear helix, Motor stereotypy	ORPHA:411986
Celiac Disease, Susceptibility To, 1	Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Abdominal pain, Dia...	OMIM:212750
Meckel Syndrome, Type 6	Cleft upper lip, Cleft palate	OMIM:612284
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Purpura, Reduced bone mineral density, Finger syndactyly, Abnormality of the upp...	ORPHA:1556
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Joint contracture of the 5th finger, Impulsivity, Joint contracture of the 4th f...	OMIM:618914
Mend Syndrome	Kyphosis, Aortic valve stenosis, Overlapping toe, Hydrocephalus, Short stature, Asymmetry of the ...	ORPHA:401973
Omodysplasia 1	Disproportionate short-limb short stature, Limited knee extension, Short humerus, Umbilical herni...	OMIM:258315
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Short stature, Macrotia, Joint contracture, Reduced social reciprocity, Mot...	OMIM:615656
Ring Chromosome 12 Syndrome	Breast hypoplasia, High, narrow palate, Abnormal 5th finger morphology, Microtia, Low-set ears, P...	ORPHA:1439
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Intrauterine growth retardation, Th...	ORPHA:3338
Narcolepsy Type 1	Restless legs, Precocious puberty, Obesity, Restlessness, Attention deficit hyperactivity disorder	ORPHA:2073
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Scoliosis, Syndactyly, Distal lower limb muscle weakness	OMIM:615284
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee...	ORPHA:33543
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnormal finger morpho...	ORPHA:3138
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ...	ORPHA:2885
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Disproportionate short-limb short stature, Short long bone, Joint hypermobility, Genu varum, Long...	ORPHA:2502
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, Thin vermilion border, 2-3 toe cutaneous syndactyly, Anal stenosis,...	OMIM:620029
Classic Galactosemia	Cryptorchidism, Ascites, Hepatomegaly	ORPHA:79239
Malaria	Nausea and vomiting, Respiratory distress	ORPHA:673
Semilobar Holoprosencephaly	Gastrostomy tube feeding in infancy, Solitary median maxillary central incisor, Gastroesophageal ...	ORPHA:220386
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Low-set ears, Dysphagia, Microretrognathia, Feeding difficulties	ORPHA:89844
Alobar Holoprosencephaly	Gastrostomy tube feeding in infancy, Solitary median maxillary central incisor, Gastroesophageal ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Gastrostomy tube feeding in infancy, Solitary median maxillary central incisor, Gastroesophageal ...	ORPHA:93926
Lobar Holoprosencephaly	Gastrostomy tube feeding in infancy, Solitary median maxillary central incisor, Gastroesophageal ...	ORPHA:93924
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Hydrocephalus, Cerebral ischemia, Foot polydactyly, Hand polydactyly, Cutis ma...	ORPHA:60040
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Werner Syndrome	Lipoatrophy, Thyroid carcinoma, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Abnormal test...	ORPHA:902
Atrial Septal Defect, Ostium Primum Type	Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, P...	ORPHA:99106
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Low hanging columella, Tracheobronchomalacia...	ORPHA:500159
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Leuko...	ORPHA:470
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Short philtrum, Gastroesophageal reflux, Anteverted nares, High palate, Furrowed to...	OMIM:616449
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Depression, Hostility, Low-set ears, Decreased body weight, Growth delay, Macrotia, Dysphagia, Mo...	OMIM:300260
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Joint stiffness, Hypoplastic vertebral bodies, Wide mouth, Splenomegaly, T...	OMIM:252940
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Surfactant Metabolism Dysfunction, Pulmonary, 1	Clubbing, Pulmonary arterial hypertension, Death in infancy, Neonatal death, Respiratory failure,...	OMIM:265120
Rett Syndrome, Congenital Variant	Irritability, Tongue thrusting, Athetosis, Dystonia, Reduced social reciprocity, Motor stereotypy...	OMIM:613454
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism	OMIM:620365
Biemond Syndrome Type 2	Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism	ORPHA:141333
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Macrotia, Cleft palate, Wide nasal bridge	ORPHA:66629
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair	OMIM:618535
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cleft palate, Anosmia	OMIM:614880
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Tongue thrusting, Emotional lability, Recurrent hand flapping, Impulsivity, Hearing impairment, O...	OMIM:619580
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Premature graying of hair, Hyperactivity, Low-set ears, Impulsivity, Self-mutilation, Paroxysmal ...	OMIM:620445
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Kyphoscoliosis, Dental crowding, Kyphosis, Wide mouth, Joint hypermobility, Shor...	OMIM:300967
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Hypotelorism, Aplasia/Hypoplasia of t...	ORPHA:3186
Ogden Syndrome	Postnatal growth retardation, Torticollis, Inguinal hernia, Low-set ears, Macrotia, Abnormal head...	ORPHA:276432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microtia, Low-set ears, Anal atresia, Atresia of the external auditory canal, Cleft upper lip, Mi...	OMIM:236670
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaire...	OMIM:245480
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption	OMIM:606824
Perrault Syndrome 4	Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre...	OMIM:615300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Scoliosis, Hemivertebrae, High palate, Pectus excavatum, Absent ni...	OMIM:104350
Congenital Multicore Myopathy With External Ophthalmoplegia	Polyhydramnios, Severe postnatal growth retardation, Scoliosis, High palate, Rectus femoris muscl...	ORPHA:98905
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Respiratory distress	ORPHA:240085
Meier-Gorlin Syndrome 7	Dislocated radial head, Sensorineural hearing impairment, Microtia, Clubbing, Joint hypermobility...	OMIM:617063
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:619755
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Delayed puberty, Hepatocellular adenoma, Chronic neutropenia, ...	ORPHA:79259
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Premature birth, Umbilical hernia, Blepharochalasis, Patellar dislocation...	ORPHA:287
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Feeding difficulties, Vomiting, Respiratory distress	OMIM:612075
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Blepharocheilodontic Syndrome 2	Tooth agenesis, Cleft lip, Conical tooth	OMIM:617681
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Hypogonadism	OMIM:277700
Bangstad Syndrome	Pancytopenia, Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant...	OMIM:210740
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Hearing impairment, Cleft palate,...	OMIM:614749
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c...	ORPHA:99867
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Anter...	ORPHA:91348
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Short nose, Meckel diverticulum, Hydrocephalus, Thick nasal alae, Low-set ears, Mic...	ORPHA:163961
Grfoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Cholelithiasis,...	ORPHA:97261
Short Chain Acyl-Coa Dehydrogenase Deficiency	Feeding difficulties, Respiratory distress	ORPHA:26792
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Low-set ears, Failure to t...	OMIM:617941
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Sensorineural hearing impairment, Female infe...	OMIM:619518
Proteus Syndrome	Macrodactyly, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Abnormal finger mor...	ORPHA:744
Arteriosclerosis, Severe Juvenile	Delayed puberty, Anemia, Dysplasia of second lumbar vertebra, Hypertension, Short stature, Short ...	OMIM:208060
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction, Abnormal gastric mucosa morph...	ORPHA:1876
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia, Congenital foot contractures, Scoliosis, Prominent calcaneus, Open mouth, Ankle clon...	ORPHA:565624
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural...	ORPHA:542323
Rauch-Steindl Syndrome	Postnatal growth retardation, Hyperactivity, Attached earlobe, Prominent crus of helix, Short sta...	OMIM:619695
Degcags Syndrome	Premature graying of hair, Retrognathia, Breech presentation, Sensorineural hearing impairment, A...	OMIM:619488
Rodrigues Blindness	Protruding ear, Nasal flaring, Tooth malposition	OMIM:268320
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent otitis media, Increased body weight, Impulsivity, Macrotia, Attention deficit hyperacti...	ORPHA:589905
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Irritability, Hyperactivity, Sensorineural hearing impairment, Low-se...	OMIM:617796
Intestinal Botulism	Diarrhea, Dyspnea, Death in infancy, Dysphagia, Nausea and vomiting, Xerostomia	ORPHA:178481
Hurler Syndrome	Recurrent otitis media, Anteverted nares, Gingival overgrowth, Microdontia, Hearing impairment, B...	OMIM:607014
Snijders Blok-Campeau Syndrome	Inguinal hernia, Low-set ears, Enamel hypoplasia, Motor stereotypy, Umbilical hernia, Attention d...	OMIM:618205
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Abs...	ORPHA:99429
Cerebral Creatine Deficiency Syndrome 1	Underfolded superior helices, Short stature, Failure to thrive, Dystonia, Reduced social reciproc...	OMIM:300352
Distal Deletion 15Q	Short distal phalanx of finger, Intrauterine growth retardation, Hip dislocation, Short finger, 2...	ORPHA:1596
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, High-output congestive heart failure, Chylothorax, Lymphedema, Cerebral...	ORPHA:137667
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Sensorineural hearing impairment, Obesity, Puberty and gonadal disorders	ORPHA:464282
46,Xx Gonadal Dysgenesis	Abnormality of secondary sexual hair, Gonadal dysgenesis, Premature ovarian insufficiency, Second...	ORPHA:243
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Small earlobe, Sensorineural hearing impairment, Abnormal gra...	ORPHA:98907
Folinic Acid-Responsive Seizures	Abdominal distention, Sensorineural hearing impairment, Apnea, Respiratory distress	ORPHA:79097
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Chromosome 14Q11-Q22 Deletion Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Short nose, Hip subluxation, Low-...	OMIM:613457
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis	ORPHA:766
Methanol Poisoning	Type I diabetes mellitus, Addictive alcohol use, Hyperlipidemia, Type II diabetes mellitus	ORPHA:31825
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short metacarpal, Short stature, Macrotia, Micrognathia, Broad columella, Metaphyse...	OMIM:250410
Loeys-Dietz Syndrome 3	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pulmonic stenosis, Arachnodactyly, B...	OMIM:613795
Tolchin-Le Caignec Syndrome	Sensorineural hearing impairment, Abnormal vestibular function, Narrow mouth, High palate, Low-se...	OMIM:618971
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Neutropenia, Anemia, Hyperuricemia	OMIM:617056
Thyroid Hemiagenesis	Constipation, Abdominal distention, Macroglossia	ORPHA:95719
Beaulieu-Boycott-Innes Syndrome	Long nose, Low hanging columella, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dent...	OMIM:613680
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Anteverted nares, Depressed nasal bridge, Fulminant hepatic failure	OMIM:618528
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Triangular mouth, Respiratory distress, Mandibular prognathi...	ORPHA:98915
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Posteriorly rotated ears, Lo...	OMIM:156610
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Tracheobronchomalacia, Microtia, Femoral bowing, Median pseudocleft lip, Intrauteri...	OMIM:616462
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Kindler Epidermolysis Bullosa	Cheilitis, Abnormality of the anus, Short 4th metacarpal, Carious teeth, Inflammation of the larg...	ORPHA:2908
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Mixed hearing impairment, Sensorineural hearing impairment, Abnormal ...	ORPHA:2363
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Long nose, Retrognathia, Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Pro...	OMIM:301091
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Exertional dyspnea, Death in childhood, Respiratory distress, Sensorine...	OMIM:220110
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, High palate, Everted lower lip vermilion, Low-set ears, Downturned corners of mouth...	OMIM:616393
Ayme-Gripp Syndrome	Sensorineural hearing impairment, Microtia, Pectus excavatum, Pericarditis, Broad philtrum, Long ...	OMIM:601088
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Protruding ear, Abnormal dental enamel morphology, Thick nasa...	ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short stature, Macrotia, Failure to thrive, Inappropriate laughter, Enamel hypoplasia, Motor ster...	OMIM:615802
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Pleural effusion, Ascites, Edema, Anasarca, Facial edema, Pedal edema, Hydrocele...	ORPHA:567546
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Femoral bowing, Hearing impairment, Biconcave flattened vertebrae, Dent...	OMIM:166200
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Microtia, Low-set ears, Hearing impairment, Obesity, Aggressive behavior	OMIM:619056
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Ambiguous genitalia, male, Abnormal sex determination, Sparse axillary hair, Decreased fertility ...	ORPHA:90796
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Long philtrum, Short philtrum, High palate, Low-set ears, Tented upper lip vermilion, Prominent n...	OMIM:619244
Primary Peritoneal Carcinoma	Constipation, Abdominal distention, Nausea and vomiting, Abdominal pain	ORPHA:168829
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Dihydropyrimidinase Deficiency	Growth delay, Short phalanx of finger, Anal atresia, Talipes equinovarus	OMIM:222748
Scalp-Ear-Nipple Syndrome	Palpebral edema, Small earlobe, Microtia, Hypertension, Underdeveloped tragus, Broad thumb, Bifid...	OMIM:181270
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o...	ORPHA:1352
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Jaundice, Cachexia, Vacuola...	ORPHA:275761
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair	ORPHA:1810
Chromosome 5P13 Duplication Syndrome	Low-set ears, Compulsive behaviors, Low posterior hairline, Posteriorly rotated ears, Motor stere...	OMIM:613174
Carey-Fineman-Ziter Syndrome	Short nose, Thin vermilion border, Anteverted nares, Glossoptosis, High palate, Micrognathia, Cle...	ORPHA:1358
Wagro Syndrome	Agitation, Low-set ears, Polyphagia, Compulsive behaviors, Decreased testicular size, Obesity, Ag...	OMIM:612469
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim...	ORPHA:436252
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Pleural effusion, Ascites	OMIM:617049
Short Stature, Developmental Delay, And Congenital Heart Defects	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	OMIM:617044
Tafro Syndrome	Hepatomegaly, Pleural effusion, Ascites, Hepatosplenomegaly, Splenomegaly, Anasarca	ORPHA:457077
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Recurrent otitis media, Microtia, Microdontia, Hearing impairment, Hypoplasi...	ORPHA:2728
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Respiratory distress, Diarrhea, Exagge...	ORPHA:2131
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cleft palate, Protruding ear, Cleft lip, Feeding difficulties in infancy	OMIM:619123
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Hearing impairment, Thro...	OMIM:600901
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, Abnormal pinna morphology, Absent tragus, High palate, Anosmia, Choanal atre...	OMIM:603457
Dermoodontodysplasia	Toenail dysplasia, Trichodysplasia, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Finge...	ORPHA:1660
Ppoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Cholelithiasis,...	ORPHA:97278
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:70472
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Abnormal testis morphology, Hypogonadism	ORPHA:2233
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Infection associated neutropenia, Hypothyroidism, Bone marrow hypocellular...	ORPHA:445038
Radio-Tartaglia Syndrome	Low-set ears, Impulsivity, Precocious puberty, Hearing impairment, Obesity, Conductive hearing im...	OMIM:619312
Trisomy 18P	Abnormal pinna morphology, Facial palsy, Polyphagia, Bilateral cryptorchidism, Attention deficit ...	ORPHA:1715
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating procal...	ORPHA:36238
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Delayed skeletal...	OMIM:618164
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Hearing impairmen...	ORPHA:897
Succinic Acidemia	Respiratory distress	OMIM:600335
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Lymph...	ORPHA:449432
Gaucher Disease	Delayed puberty, Death in infancy, Joint stiffness, Delayed skeletal maturation, Leukopenia, Sple...	ORPHA:355
Developmental And Epileptic Encephalopathy 95	Long nose, Pectus carinatum, Umbilical hernia, Short distal phalanx of finger, Joint hypermobilit...	OMIM:618143
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
X Small Rings	Protruding ear, Reduced bone mineral density, Clinodactyly of the 5th finger, Joint hypermobility...	ORPHA:96201
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypocalcemi...	OMIM:618183
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa...	ORPHA:1807
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Chronic diarrhea, High palate, Low-set ears, Pyloric stenosis, Long philtrum, Submuco...	ORPHA:457279
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Sensorineural hearing impairment, Pseudohypoparathyroidism, ...	ORPHA:464288
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
X-Linked Intellectual Disability, Hedera Type	Scoliosis, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of lower limbs, Pes pla...	ORPHA:93952
Myoclonic-Astatic Epilepsy	Thick lower lip vermilion, Premature skin wrinkling, Anteverted nares, Thick nasal alae, Wide mou...	ORPHA:1942
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Digeorge Syndrome	Recurrent sinusitis, Bifid uvula, Ovarian cyst, Splenomegaly, Umbilical hernia, Abnormal thymus m...	OMIM:188400
Congenital Short Bowel Syndrome	Displacement of the urethral meatus, Sparse hair	ORPHA:2301
Niemann-Pick Disease, Type A	Splenomegaly, Hepatomegaly, Ascites	OMIM:257200
Cushing Disease	Optic nerve compression, Decreased eosinophil count, Increased body weight, Increased urinary cor...	ORPHA:96253
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia, Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Pseudo-Torch Syndrome 1	Decreased liver function, Anteverted nares, High palate, Low-set ears, Microretrognathia, Long ph...	OMIM:251290
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Attention defi...	OMIM:619827
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Hearing impairment, Bone...	OMIM:227645
Ermine Phenotype	Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation...	OMIM:227010
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Ring Chromosome 7 Syndrome	Small earlobe, Severe intrauterine growth retardation, Bifid uvula, Hypogonadism, Heart murmur, S...	ORPHA:1449
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol...	OMIM:617137
Tularemia	Oral ulcer, Otitis media, Respiratory distress	ORPHA:3392
Vipoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Increased circu...	ORPHA:97282
Baker-Gordon Syndrome	Self-injurious behavior, Dystonia, Motor stereotypy, Choreoathetosis	OMIM:618218
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Sensorineural hearing impairment, Pectus excavatum, Epistaxis, Wide mout...	OMIM:619841
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Prominent antihelix, Dystonia, Motor stereotypy	OMIM:617807
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Hyperlipidemia, Hearing impairment, Flexion contracture, Insulin resistance	ORPHA:90153
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe synd...	OMIM:620025
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Galloway-Mowat Syndrome 6	Decreased body weight, Short stature, Growth delay, Motor stereotypy, Intrauterine growth retarda...	OMIM:618347
Glycogen Storage Disease Iii	Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Low-set ears, Adrenocortical hypoplasia, Lethargy, Hypog...	OMIM:307030
Autosomal Dominant Spastic Ataxia Type 1	Jerky head movements, Tremor, Dysphagia, Dystonia	ORPHA:251282
Apparent Mineralocorticoid Excess	Polydipsia, Hypokalemia, Decreased circulating renin level, Failure to thrive, Decreased circulat...	ORPHA:320
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dental crowding, Microtia, Delayed skeletal m...	ORPHA:261323
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae, Uveitis	ORPHA:85410
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy	OMIM:618917
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Fused cervical vertebrae, Low hanging columella, Proximal/middle symphalangism of 5th ...	OMIM:184460
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture, Shoulder girdle muscle weakness	OMIM:604801
Cerebrooculonasal Syndrome	Narrow palate, Short nose, Solitary median maxillary central incisor, Proboscis, Anteverted nares...	OMIM:605627
Carney Triad	Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Ascites, Gastrointestinal stroma tumor,...	ORPHA:139411
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Wide anterior fontanel, Abnormal pinna morphology, Hyperlordosis, Scapu...	ORPHA:26791
Bruck Syndrome 2	Osteopenia, Platyspondyly, Pterygium, Pectus carinatum, Femoral bowing, Elbow flexion contracture...	OMIM:609220
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Thick lower lip vermilion, Wide nose, Narrow nasal bridge, Short phi...	OMIM:614609
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Miscarriage, Anal atresia, Cryptorchidism,...	OMIM:613390
Nicolaides-Baraitser Syndrome	Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long eyelashes, Abnormal hair...	ORPHA:3051
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Increased pr...	ORPHA:167
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, N...	OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Grange Syndrome	Aortic regurgitation, Hypertension, Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Hearing impairment, Abnormality of skin pigmentation, Precocious puberty, Aggressi...	ORPHA:457260
Whim Syndrome	Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L...	ORPHA:51636
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Moto...	OMIM:617802
Vater/Vacterl Association	Occipital encephalocele, Abnormal sternum morphology, Tracheoesophageal fistula, Syndactyly, Abno...	OMIM:192350
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy, Respiratory failure, Di...	OMIM:614299
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Predominantly lower limb lymph...	OMIM:607823
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Hearing impairment, Thro...	OMIM:227650
Mitochondrial Complex I Deficiency, Nuclear Type 37	High palate, Respiratory distress	OMIM:619272
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Anal atresia, Short stature, Short middle phalanx of finger,...	ORPHA:1436
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Respiratory distress, Gingival overgrowth, Narrow mouth, High palate, Atresia of t...	OMIM:123790
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Systolic heart murmu...	ORPHA:555874
Frontotemporal Dementia	Inappropriate laughter, Disinhibition, Polyphagia	OMIM:600274
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Single transverse palmar crease, Low APGAR score, Limb undergrowth, Flexion c...	ORPHA:79243
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Reduced left ventricular ejection fraction, Respirato...	ORPHA:258
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea, Hearing ...	ORPHA:100924
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Protruding ear, Small nail, Brittle hair, Tiger tail bandin...	OMIM:601675
Junctional Epidermolysis Bullosa With Pyloric Atresia	Abdominal distention, Congenital pyloric atresia, Enamel hypoplasia, Nausea and vomiting, Intesti...	ORPHA:79403
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Ar...	ORPHA:352447
Atkin-Flaitz Syndrome	Macrotia, Obesity, Macroorchidism	ORPHA:1193
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Thin vermilion border, Fixed elbow flexion, Patellar hypoplasia, Wide nose, Sing...	ORPHA:495818
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Low-set ears, Impulsi...	ORPHA:8
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Gastrointestinal hemorrhage, Dental crowding, Arachnodactyly, Decreased fetal mov...	OMIM:225400
Adnp Syndrome	Abnormal temper tantrums, Advanced eruption of teeth, Thick lower lip vermilion, Protruding ear, ...	ORPHA:404448
8P11.2 Deletion Syndrome	Abnormal pinna morphology, Spherocytosis, High palate, Anosmia, Abnormality of the hypothalamus-p...	ORPHA:251066
Adams-Oliver Syndrome 6	Esophageal varix, Portal hypertension, Tricuspid regurgitation, Cutis marmorata, Foot oligodactyl...	OMIM:616589
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Bone pain, Growth delay, Tooth abscess, Osteomalacia, Bowing of ...	ORPHA:89937
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Respiratory distress	OMIM:619466
Craniofacioskeletal Syndrome	Microtia, Hypoplastic frontal sinuses, Intrauterine growth retardation, Short philtrum, Choanal a...	OMIM:300712
Periventricular Nodular Heterotopia 1	Short finger, Clinodactyly, Cerebral hemorrhage, Syndactyly	OMIM:300049
Carpenter Syndrome 2	Retrognathia, Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, Broad thumb, ...	OMIM:614976
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Failure to thrive, Sparse hair,...	OMIM:614602
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Abnormal pinna morphology, Sensorineural hearing impairment, Syndactyly, I...	OMIM:616975
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Premature birth, Wide mouth, Splenom...	OMIM:618268
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Kyphoscoliosis, Dental crowding, Wide mouth, Joint hypermobility, Short philtrum...	ORPHA:466791
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia	ORPHA:238459
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Dysphagia, Respiratory distress	OMIM:613561
Niemann-Pick Disease, Type C2	Polyhydramnios, Death in childhood, Respiratory insufficiency, Fetal ascites, Death in infancy, R...	OMIM:607625
Dihydropyrimidine Dehydrogenase Deficiency	Respiratory failure requiring assisted ventilation, Retrognathia, Deep palmar crease, Delayed eru...	ORPHA:1675
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Distal Deletion 12Q	Kyphoscoliosis, Microtia, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of the 3rd ...	ORPHA:96149
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Sensorineural hearing impairment, Cleft palate,...	OMIM:614207
Lcat Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased circul...	ORPHA:650
Schizophrenia 1	Short proximal phalanx of the 4th toe, Protruding ear, Syndactyly, Short stature	OMIM:181510
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Cerebrooculofacioskeletal Syndrome 2	Hearing impairment, Sparse hair, Small scrotum, Micropenis, Small for gestational age	OMIM:610756
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Low-set ears, Macrotia, Splenomegaly, EEG abnormality, Neutropenia	OMIM:617050
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Abnormal subcutaneous fat tissue distribution, Steatorrhea, Death in childhood, Cardi...	OMIM:212065
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, K...	ORPHA:1724
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal en...	ORPHA:280195
Recurrent Respiratory Papillomatosis	Respiratory distress, Dyspnea, Choking episodes, Dysphagia, Tachypnea	ORPHA:60032
Angelman Syndrome Due To A Point Mutation	Tongue thrusting, Hypopigmentation of hair, Recurrent hand flapping, Hypopigmentation of the skin...	ORPHA:411511
Otofaciocervical Syndrome 1	Mixed hearing impairment, High palate, Conductive hearing impairment, Cupped ear, Narrow nose, Hy...	OMIM:166780
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Episodic hypertension	OMIM:619483
Aspartylglucosaminuria	Chronic otitis media, Pectus carinatum, Microtia, Joint stiffness, Delayed skeletal maturation, S...	ORPHA:93
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Hearing impairment, Sparse eyebrow, Low-set ears, Sparse hair	OMIM:619989
Diamond-Blackfan Anemia 11	Stenosis of the external auditory canal, Anemia of inadequate production, Atresia of the external...	OMIM:614900
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Solitary median maxillary central incisor, Abnormal pinna morphology...	ORPHA:556955
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Cryptorchidism, Sparse hair	OMIM:273390
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Neonatal death, Res...	OMIM:605711
Keutel Syndrome	Miscarriage, Hypertension, Pulmonic stenosis, Shortening of all distal phalanges of the fingers, ...	OMIM:245150
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Partial anosmia, Sensorineural hearing impairment, Delayed skeletal maturation, ...	ORPHA:2326
Noonan Syndrome 6	Multiple lentigines, Sensorineural hearing impairment, Long eyebrows, Low-set ears, Low posterior...	OMIM:613224
3Mc Syndrome 1	Dental crowding, Hearing impairment, Cleft upper lip, Conductive hearing impairment, Cleft palate...	OMIM:257920
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
White-Sutton Syndrome	Congenital diaphragmatic hernia, Hypoglycemic seizures, Hyperactivity, Sensorineural hearing impa...	OMIM:616364
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Anemia, B lymphocytopenia, Reticulocytopenia, Hearing impairment, Bone marrow hypoc...	ORPHA:508542
Renal Glucosuria	Polydipsia, Glycosuria, Polyphagia	OMIM:233100
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Abnormal circulating creatine kinase co...	ORPHA:98908
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:79443
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar...	OMIM:604536
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertens...	ORPHA:2519
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Calf muscle hypertrophy, Scapular winging, Achilles tendon contracture, Respiratory failure, Shou...	OMIM:603689
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Short stature, Motor stere...	OMIM:620141
Cystinosis	Polydipsia, Delayed puberty, Hypokalemia, Portal hypertension, Nephrogenic diabetes insipidus, Hy...	ORPHA:213
Warsaw Breakage Syndrome	Postnatal growth retardation, Hearing impairment, Intrauterine growth retardation, Cupped ear, Hy...	OMIM:613398
Anaplastic Thyroid Carcinoma	Dyspnea, Dysphagia, Tracheoesophageal fistula, Respiratory distress	ORPHA:142
Leigh Syndrome	Optic atrophy, Anemia, Hypsarrhythmia, Sensorineural hearing impairment, Hyperalaninemia, Failure...	ORPHA:506
Scedosporiosis	Abnormal jejunum morphology, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Sept...	ORPHA:449280
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Long philtrum, Respiratory failure, Wide nasal bridge	OMIM:312170
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Proportionate tall stature, Obesity, Umbilical hernia, Cryptorchidism, Neuroend...	ORPHA:404443
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Breech presentation, Death in childhood, Short stature, Respiratory failure	OMIM:619847
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
Poikiloderma With Neutropenia	Recurrent otitis media, Elevated circulating creatine kinase concentration, Leukopenia, Splenomeg...	OMIM:604173
Peters Plus Syndrome	Disproportionate short-limb short stature, Pulmonic stenosis, Wide mouth, Umbilical hernia, Long ...	ORPHA:709
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Müllerian Aplasia And Hyperandrogenism	Protruding ear, Obesity, Increased serum testosterone level, Abnormality of the ovary	ORPHA:247768
Pseudo-Torch Syndrome 2	Hepatomegaly, Pleural effusion, Ascites	OMIM:617397
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Jaundice, Hepatomegaly, Lymphadeno...	OMIM:214500
Arboleda-Tham Syndrome	Chronic otitis media, Small earlobe, Bifid nasal tip, Underdeveloped tragus, Intestinal malrotati...	OMIM:616268
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Acrocyanosis, Clubbing of fingers	ORPHA:2032
Zimmermann-Laband Syndrome 1	Short distal phalanx of toe, Cardiomyopathy, Wide mouth, Splenomegaly, Umbilical hernia, Long phi...	OMIM:135500
Eosinophilic Gastroenteritis	Edema, Ascites	ORPHA:2070
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Congenital Myopathy 10B, Mild Variant	Scoliosis, Hyperlordosis, High palate, Knee contracture, Cleft palate, Achilles tendon contractur...	OMIM:620249
Neurogenic Arthrogryposis Multiplex Congenita	Micrognathia, Feeding difficulties, Respiratory distress	ORPHA:1143
Mowat-Wilson Syndrome	Abdominal distention, Widely spaced teeth, Aganglionic megacolon, Recurrent otitis media, Tooth m...	OMIM:235730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short nose, Thin vermilion border, Anal stenosis, Gastroesophageal reflux, Anteverted nares, High...	OMIM:614080
Xp21 Deletion Syndrome	Hypertriglyceridemia, Recurrent otitis media, Elevated circulating creatine kinase concentration,...	ORPHA:261476
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Decreased response to growth hormone stimulation test, Elevate...	ORPHA:79444
3Q29 Microduplication Syndrome	Ectopic anus, High palate, Abnormality of the dentition, Low-set ears, Hearing impairment, Cleft ...	ORPHA:251038
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior	OMIM:615516
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ...	ORPHA:398124
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Proteus-Like Syndrome	Genu recurvatum, Hydrocephalus, Mandibular prognathia, Open bite, Hyperostosis, Anteverted nares,...	ORPHA:2969
Lopes-Maciel-Rodan Syndrome	Agitation, Tremor, Dystonia, Dysphagia, Motor stereotypy, Bruxism	OMIM:617435
Stromme Syndrome	Stillbirth, Duodenal atresia, Low-set ears, Intestinal malrotation, Micrognathia, Cleft palate, W...	OMIM:243605
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastroesophageal reflux, Sensorineural hearing impairment, Abnormality of the outer ear, Nasal fl...	ORPHA:466943
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger...	OMIM:602782
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Respiratory distress, Gingival overgrowth, ...	ORPHA:363705
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Retrognathia, Abnormal dental enamel morphology, Low-set ears, Microdontia, Cleft pal...	ORPHA:1812
Pyoderma Gangrenosum	Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Narrow chest, Scoliosis, Short long bone, Short stature, Brachydactyly	OMIM:613819
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Abnormal erythrocyte morphology	ORPHA:71277
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Inguinal hernia, Hyperactivity, Cachexia, Decreased testicular size,...	ORPHA:85293
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pectus carinatum, Dental crowding, Sensorineural hearing impairment, Pectus excavatum, Pulmonic s...	ORPHA:261537
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Cleft soft palate, Hydrocephalus, Hypoplasia of the ovary, Leukocytosis,...	OMIM:619321
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Bifid uvula, Incomplete partition ...	OMIM:617660
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Severe short stature	OMIM:256540
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularit...	OMIM:617303
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Developmental Delay, Hypotonia, And Impaired Language	Mixed hearing impairment, Cryptorchidism, Neutropenia	OMIM:620012
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Female infertility	OMIM:617577
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Aplasia of the ovary, Agonadism, Infertility, Impotence, No...	ORPHA:2232
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Low-set ears, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227646
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Recurrent otitis media, Gastroesophageal reflux, Chronic diarrhea, Vomiting...	OMIM:620233
Severe Generalized Junctional Epidermolysis Bullosa	Anemia, Bradycardia, Dehydration, Osteoporosis, Esophageal stricture, Growth delay, Enamel hypopl...	ORPHA:79404
Oslam Syndrome	Clinodactyly of the 5th finger, Increased mean corpuscular volume, Short stature, Carious teeth, ...	ORPHA:2760
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Respiratory distress	ORPHA:240103
Auriculocondylar Syndrome 2B	Darwin tubercle of helix, Long penis, Question mark ear, Synophrys, Failure to thrive, Sparse hair	OMIM:620458
Myopathy And Diabetes Mellitus	Sensorineural hearing impairment, Respiratory distress	ORPHA:2596
Retinal Dystrophy With Leukodystrophy	Prominent ear helix, Cleft palate	OMIM:618863
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair, Protruding ear	OMIM:619691
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ...	ORPHA:198
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Respiratory insufficiency due to muscle weakness, Arrhy...	OMIM:310200
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Everted lower ...	OMIM:305100
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Highly elevated ...	OMIM:251900
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona...	ORPHA:99889
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal circulating thyro...	ORPHA:99832
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema, Edema	OMIM:178400
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor...	OMIM:300291
Marfan Syndrome	Limited elbow movement, Retrognathia, Reduced bone mineral density, Pectus carinatum, Dental crow...	ORPHA:558
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Gastroesophageal reflux, Trismus, Anteverted nares, Sensorineural hearing impairmen...	OMIM:254940
Joubert Syndrome 37	Low-set ears, Decreased testicular size, Obesity, Posteriorly rotated ears, Sparse hair, Cryptorc...	OMIM:619185
Mowat-Wilson Syndrome	Pectus carinatum, Dental crowding, Sensorineural hearing impairment, Pectus excavatum, Everted lo...	ORPHA:2152
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Curly hair, Hearing impairment, Motor stereotypy, Bruxism, Coarse hair	OMIM:616351
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Hearing impairment, Macrotia, Sparse hair, Fine hair, Cryptorch...	OMIM:616817
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc...	OMIM:615688
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Long philtrum, Short philtrum, Hydrocephalus, Scoliosis, Abnormal helix morpholo...	ORPHA:261337
Fusariosis	Lung abscess, Panniculitis, Brain abscess, Granuloma, Abnormality of the liver, Abnormality of th...	ORPHA:228119
Joubert Syndrome With Renal Defect	Orofacial cleft, Aganglionic megacolon, Low-set, posteriorly rotated ears, Anteverted nares, Clef...	ORPHA:220497
Timothy Syndrome	Single umbilical artery, Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Mic...	OMIM:601005
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Neoplasm of the nervous system, Neoplasm of the eye, Neoplasm of the lung, Ascites,...	ORPHA:100085
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Hypodontia, Sensorineural hearing impair...	ORPHA:90024
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Pleural effusion, Respir...	ORPHA:723
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening, Narrow...	OMIM:122880
Hydrolethalus Syndrome 1	Stillbirth, Midline defect of the nose, Abnormal pinna morphology, Low-set ears, Micrognathia, Cl...	OMIM:236680
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactiv...	OMIM:617061
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, Sparse hair, Pili torti, ...	OMIM:301845
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Decreased fetal movement, Accessory splee...	OMIM:164280
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618906
Down Syndrome	Delayed puberty, Aganglionic megacolon, Abnormality of the lymphatic system, Round ear, Conductiv...	ORPHA:870
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Polysyndactyly With Cardiac Malformation	Stillbirth, Polyhydramnios, Anteverted nares, Duplication of phalanx of hallux, Syndactyly, Preax...	OMIM:263630
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Transketolase Deficiency	Hepatomegaly, Elevated circulating ribitol concentration, Compulsive behaviors, Hearing impairmen...	ORPHA:488618
Leopard Syndrome 1	Delayed puberty, Limited elbow movement, Kyphoscoliosis, Hypoplasia of the ovary, Pectus carinatu...	OMIM:151100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypoparathyroidism, EEG with spike-wave complexes, Low-set ears, Precocious...	ORPHA:369837
Craniofacial Microsomia 1	Occipital encephalocele, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide ...	OMIM:164210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Proximal muscle weakness in upper limbs, Ankle clonus	OMIM:613954
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Short ear, Prominent inferior crus of antihelix, Long philtrum, Shor...	OMIM:618332
Tarsal-Carpal Coalition Syndrome	Short stature, Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Perlman Syndrome	Polyhydramnios, Nephroblastomatosis, Renal hamartoma, Ascites, Visceromegaly, Nephroblastoma, Cry...	OMIM:267000
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy	OMIM:615637
Bardet-Biedl Syndrome 8	Obesity, Hypogonadism	OMIM:615985
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Polyhydramnios, Thin ribs, Neonatal asphyxia, Miscarriag...	ORPHA:169189
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Midline defect of the nose, Asymmetry of the thorax, Finger syndactyly, Short hard palate, Scolio...	ORPHA:1969
Distal Deletion 3P	Abnormal vestibulo-ocular reflex, Thin vermilion border, Low-set, posteriorly rotated ears, Antev...	ORPHA:1620
Ritscher-Schinzel Syndrome 4	Athetosis, Impulsivity, Short stature, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior	OMIM:619435
Wagr Syndrome	Obesity, Hearing abnormality, Cryptorchidism	ORPHA:893
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Hepatomegaly, Pancytopenia, Failure to thrive, Hyperammonemia, Th...	OMIM:251100
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Sensorineural hearing impairment, Attention defici...	OMIM:619075
Somatostatinoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Adrenocortical ...	ORPHA:97283
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Hyperactivity, Sensorineural hearing impairment, Decreased body wei...	OMIM:608747
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Sensorineural hearing impairment, Sparse hair, Brittle hair	ORPHA:1883
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Motor stereotypy, Mild postnat...	ORPHA:530983
Idiopathic Intracranial Hypertension	Vertigo, Obesity, Papilledema, Pulsatile tinnitus	ORPHA:238624
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Feeding difficulties, Respiratory distress	OMIM:616733
Van Esch-O'Driscoll Syndrome	Retrognathia, Short nose, Protruding ear, Clinodactyly of the 5th finger, Esophageal atresia, Spi...	OMIM:301030
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai...	ORPHA:905
Acute Interstitial Pneumonia	Hypertension, Pleural effusion, Pericardial effusion, Peripheral edema, Respiratory failure	ORPHA:79126
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Severe short stature, Intrauterine growth retardation, Craniosynostosis, Low-set, p...	ORPHA:468631
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus	OMIM:605231
Xq21 Microdeletion Syndrome	Postnatal growth retardation, Sensorineural hearing impairment, Abnormal cochlea morphology, Bila...	ORPHA:1435
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Intestinal obstruction, Purpura, Respiratory insufficiency...	ORPHA:183
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Tiger tail banding, Decreased testicular size, Sparse eyebrow, S...	OMIM:300953
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Depressed nasal bridge, Epiphyseal stippling	OMIM:614862
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia, Mixed hearing impairment, Low-set ears, Obesity, Thickened helices, Overfo...	OMIM:608624
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Progressive hearing impairment, Dysphagia, Feeding difficul...	OMIM:620166
Tetanus	Respiratory distress, Abdominal pain, Bowel incontinence, Dysphagia, Trismus, Tachypnea	ORPHA:3299
Riddle Syndrome	Decreased circulating total IgM, Generalized lymphadenopathy, Decreased circulating IgG level, De...	ORPHA:420741
Kleefstra Syndrome	Chronic otitis media, Everted lower lip vermilion, Bowel incontinence, Thickened helices, Aggress...	ORPHA:261494
Alg1-Cdg	Protein-losing enteropathy, Scoliosis, Limitation of joint mobility, Cardiomyopathy, Kyphosis, Re...	ORPHA:79327
Triosephosphate Isomerase Deficiency	Congestive heart failure, Respiratory insufficiency, Death in adolescence, Death in infancy, Resp...	OMIM:615512
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Sensorineural hearing impairment, Death in infancy...	OMIM:620275
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Protruding ear, Camptodactyly, Disproportionate tall stature, Attention deficit hyperactivity dis...	OMIM:301039
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, Hyperactivity, Depression, Failure to thrive, Dysphoria, Motor ster...	OMIM:620242
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Sensorineural hearing impairment, Genu valgum, Cyanosis	ORPHA:488627
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Megaloblastic anemia, Eleva...	ORPHA:79282
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Clubbing, Hypoxemia, Cyanosis, Brain abscess	OMIM:610910
Dengue Fever	Hepatomegaly, Ascites	ORPHA:99828
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Tongue thrusting, Hyperactivity, Recurrent hand flapping, Obesity, Inappropriate laughter, Dyspha...	ORPHA:98794
Pulmonary Alveolar Microlithiasis	Clubbing of fingers, Respiratory insufficiency, Testicular microlithiasis, Stippled calcification...	ORPHA:60025
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Low frustration tolerance, Macrotia, Motor stereotypy, Self-mutilation	OMIM:300486
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Joubert Syndrome 21	Occipital encephalocele, Single naris, Bell-shaped thorax, Encephalocele, Sensorineural hearing i...	OMIM:615636
Visceral Myopathy 1	Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Int...	OMIM:155310
Curry-Jones Syndrome	Anal stenosis, Unicoronal synostosis, Intestinal pseudo-obstruction, Bicoronal synostosis, Tripha...	OMIM:601707
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus	OMIM:617898
Neuroocular Syndrome	Retrognathia, Prominent fingertip pads, Pectus excavatum, Umbilical hernia, Deep palmar crease, S...	OMIM:619539
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Surfactant Metabolism Dysfunction, Pulmonary, 3	Clubbing, Death in infancy, Hypoxemia, Neonatal death, Respiratory failure, Neonatal respiratory ...	OMIM:610921
X-Linked Intellectual Disability, Shashi Type	Macrotia, Obesity, Macroorchidism	ORPHA:85286
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Failure to thrive, Bone marrow hypocellularity, Leukopenia, Thromb...	OMIM:613989
Monosomy 13Q14	Protruding ear, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl...	ORPHA:1587
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Posteriorly placed anus, Short long bone, Low...	OMIM:306955
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, W...	ORPHA:2221
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Cyanosis, Hypertrophic cardiomyopathy	ORPHA:91130
Reynolds Syndrome	Hepatomegaly, Ascites, Xerostomia	ORPHA:779
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pectus carinatum, Dental crowding, Sensorineural hearing impairment, Pectus excavatum, Hyphema, A...	ORPHA:261552
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Talipes, Hydrocephalus, A...	ORPHA:1335
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Proboscis Lateralis	Cyclopia, Proptosis, Chorioretinal coloboma, Optic disc coloboma, Hypertelorism, Iris coloboma	ORPHA:141099
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Anemia, Esophageal atresia, Hydrocephalus, Microtia, Low-set ears, Tracheoeso...	OMIM:614083
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Feeding difficulties, Respiratory distress	OMIM:615597
Colonic Atresia	Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia	ORPHA:1198
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Neutropenia, Lymphopenia	OMIM:614868
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, Short philtrum, Anteverted nares, Low-set ears, Hearing impairment, Thin upper lip ve...	OMIM:618454
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Thrombocytopenia, Leukopenia, Flexion contracture, Hepatic steatosis, Neut...	OMIM:616271
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft palate, Long ph...	ORPHA:2505
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption	ORPHA:71
Desmosterolosis	Short nose, Gingival fibromatosis, Anteverted nares, Low-set ears, Micrognathia, Cleft palate, Po...	OMIM:602398
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Gastropare...	ORPHA:85443
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular c...	OMIM:232240
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Dyspnea, Respiratory distress	OMIM:267450
Walker-Warburg Syndrome	Protruding ear, Hydrocephalus, Low-set ears, Bifid uvula, Cleft palate, Posteriorly rotated ears,...	ORPHA:899
Dextrocardia	Abnormal foot morphology, Meckel diverticulum, Hydrocephalus, Pancreatic hypoplasia, Aplasia/Hypo...	ORPHA:1666
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Long philtrum, Semilobar holoprosencephaly, Hitchhiker thumb, Diabetes insipidus, Sensorineural h...	OMIM:618500
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	ORPHA:233
Nephrotic Syndrome, Type 1	Pyloric stenosis, Abdominal distention, Gastroesophageal reflux	OMIM:256300
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Microtia, Overgrowth, Hearing impairment, Macrotia, Obesity, Aggressive behavior	OMIM:620250
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Hepatoportal Sclerosis	Splenomegaly, Hepatocellular carcinoma, Ascites	ORPHA:64743
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Abnormal reproductive system morpholog...	ORPHA:1916
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Sensorineural hearing impairment, Prominent fingertip pads, Pectus excavatum, Microdontia, Broad ...	OMIM:612474
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Multifocal epileptiform discharges, Agitation, Hypsarrhythmia, EEG with ...	OMIM:619229
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Torticollis, Emotional lability, Sensorineural hearing impairment, ...	ORPHA:300570
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Decreased ...	ORPHA:90051
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,...	OMIM:241080
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Cho...	OMIM:614576
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Hepatomegaly, Anemia, Foot joint contracture, Absent brainstem auditory ...	ORPHA:90321
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Hearing impairment, Bone marrow hypocel...	OMIM:613990
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Iris nevus, Chorioretinal scar, Anterior chamber flare, Posterior u...	ORPHA:91500
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Ascites	ORPHA:2848
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Hawkinsinuria	Failure to thrive, Restlessness, Sparse hair	OMIM:140350
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, A...	ORPHA:110
Hereditary Mucoepithelial Dysplasia	Fine hair, Abnormal morphology of female internal genitalia, Sparse hair, Alopecia	ORPHA:1839
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Protruding ear, Low-set, posteriorly rotated ears, Abnormal pinna morphology, High pa...	ORPHA:2953
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contract...	OMIM:193700
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Diarrhea, Oral ulcer, Abdominal pain, Vomiting	ORPHA:93552
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Congenital Sialidosis Type 2	Edema, Hepatomegaly, Hepatosplenomegaly, Ascites	ORPHA:93400
Ovarian Dysgenesis 3	Aplasia of the ovary, Female infertility, Primary amenorrhea	OMIM:614324
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Chronic otitis media, Abnormal earlobe morphology, Inguinal hern...	ORPHA:96121
Kid Syndrome	Postnatal growth retardation, Progeroid facial appearance, Corneal neovascularization, Prelingual...	ORPHA:477
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentratio...	ORPHA:79284
Waardenburg Syndrome, Type 1	Premature graying of hair, Orofacial cleft, Mandibular prognathia, Myelomeningocele, Spina bifida...	OMIM:193500
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely r...	ORPHA:444013
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli...	ORPHA:86816
Eisenmenger Syndrome	Vertigo, Clubbing, Ascites, Left-to-right shunt, Hypoxemia, Heart murmur, Right-to-left shunt, El...	ORPHA:97214
Liver Failure, Infantile, Transient	Abdominal distention, Death in infancy, Vomiting, Acute hepatic failure, Feeding difficulties in ...	OMIM:613070
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Left ventricular o...	ORPHA:308552
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hepatomegaly, Hyperhomocystinemia, Megaloblastic anemia, Low-set ears, Cy...	OMIM:277400
Autoimmune Hepatitis	Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ...	ORPHA:2137
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of t...	ORPHA:2064
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Uncombable hair, Sparse hair	ORPHA:1264
Sclerosing Cholangitis, Neonatal	Splenomegaly, Hepatomegaly, Ascites, Bile duct proliferation	OMIM:617394
N-Acetylglutamate Synthase Deficiency	Anorexia, Respiratory distress, Vomiting, Tachypnea, Aggressive behavior	OMIM:237310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Sensorineural hearing ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Sensorineural hearing ...	ORPHA:353277
Lelis Syndrome	Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper...	ORPHA:140936
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Craniosynostosis, Wide nose, Short lingual frenu...	ORPHA:1521
Budd-Chiari Syndrome	Splenomegaly, Hepatomegaly, Ascites	ORPHA:131
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Thick lower lip vermilion, Platyspondyly, Anteverted nares, Broad ischia, S...	OMIM:619727
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis	OMIM:266200
Cardiomyopathy, Familial Hypertrophic, 4	Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema	OMIM:115197
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Vertigo, Dyspnea, Vomiting	ORPHA:464453
Distal Renal Tubular Acidosis	Polydipsia, Sensorineural hearing impairment, Short stature, Failure to thrive, Enlarged vestibul...	ORPHA:18
Diamond-Blackfan Anemia 7	Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Hearing impairment,...	OMIM:612562
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Sensorineural hearing impairment, Vacuolated lymphocytes, Hyperlipide...	ORPHA:565612
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Hirsutism, Synophrys, Hearing impairment, Coarse hair, Aggressive behavior	OMIM:252920
Khan-Khan-Katsanis Syndrome	Anemia, Sensorineural hearing impairment, Corneal scarring, Failure to thrive, Joint contracture,...	OMIM:618460
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Long philtrum, Short distal phalanx of finger, I...	OMIM:617157
9P13 Microdeletion Syndrome	Hand tremor, Recurrent otitis media, Low-set ears, Attention deficit hyperactivity disorder, Shor...	ORPHA:324313
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Sensorineural hearing impairment, Scoliosis, Femoral bowing, Short stature, Recurrent...	OMIM:615066
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination	ORPHA:397612
Loeys-Dietz Syndrome 2	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum, Arachnodactyly, Bi...	OMIM:610168
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cryptorchidism, Syndactyly	ORPHA:404451
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hydrops fetalis, Wide anterior fontanel, Anemia of inadequate product...	OMIM:613673
Phelan-Mcdermid Syndrome	Tongue thrusting, Hearing impairment, Macrotia, Reduced social reciprocity, Motor stereotypy, Pro...	OMIM:606232
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Clubbing, Pulmonary arterial hypertension, Hypoxemia, Respiratory fail...	OMIM:610913
Curry-Jones Syndrome	Craniosynostosis, Finger syndactyly, Broad thumb, Foot polydactyly, Intestinal malrotation, Abnor...	ORPHA:1553
Ruijs-Aalfs Syndrome	Premature graying of hair, Hypogonadism, Decreased body weight, Sparse hair	OMIM:616200
Congenital Diaphragmatic Hernia	Intestinal malrotation, Respiratory distress	ORPHA:2140
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor...	OMIM:601455
Lymphangioleiomyomatosis	Retinal hamartoma, Renal neoplasm, Chylopericardium, Chylothorax, Lymphedema, Ascites, Pulmonary ...	ORPHA:538
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Abdominal pain, Vertigo, Nausea, Recurrent infection of the gastr...	ORPHA:51890
Kleefstra Syndrome 1	Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Obesity, Motor stereotypy, C...	OMIM:610253
Peritoneal Cystic Mesothelioma	Constipation, Abdominal distention, Abdominal pain	ORPHA:168816
Meester-Loeys Syndrome	Pes planus, Broad distal phalanx of finger, Joint dislocation, Abnormal sternum morphology, Gingi...	OMIM:300989
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Short stature, Growth delay, Dystonia, Motor stereo...	ORPHA:208447
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Cochlear degeneration, Head tremor	ORPHA:95433
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Abdominal pain, Dyspnea, Respiratory distress	ORPHA:86812
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick eyebrow, Small for gestational age, Sparse hair, Synophrys	OMIM:611091
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	ORPHA:59303
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Decreased circulating IgA level, H...	OMIM:613385
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Mercury Poisoning	Anorexia, Episodic vomiting, Respiratory distress, Dyspnea, Episodic abdominal pain, Nausea	ORPHA:330021
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Abnormal earlobe morphology, Abnormal rectum morphology, Severe short stature, Abno...	ORPHA:2556
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Laryngomalacia	Respiratory distress	OMIM:150280
Distal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Aganglionic megacolon, Hyperuricemia	ORPHA:261222
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating...	ORPHA:2235
Mitchell-Riley Syndrome	Absent gallbladder, Annular pancreas, Pancreatic hypoplasia, Ascites	OMIM:615710
Dyrk1A-Related Intellectual Disability Syndrome	Pectus excavatum, Kyphosis, Structural foot deformity, Aortic valve stenosis, Arachnodactyly, Int...	ORPHA:464306
Nephronophthisis 15	Obesity	OMIM:614845
Chromosome 1P36 Deletion Syndrome, Proximal	Anteverted nares, Bifid nasal tip, High palate, Low-set ears, Micrognathia, Cleft palate, Posteri...	OMIM:619343
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Pectus excavatum, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Oligoh...	ORPHA:2785
White-Sutton Syndrome	Congenital diaphragmatic hernia, Optic atrophy, Ventral hernia, Inguinal hernia, Hyperactivity, S...	ORPHA:468678
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Kyphoscoliosis, Decreased fetal movement, Polyhydramnios, Mixed hearing impairment, C...	OMIM:614557
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cer...	OMIM:619573
Coats Disease	Leukocoria	OMIM:300216
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity, Polysplenia	OMIM:610543
Retinal Dystrophy And Obesity	Obesity, Peripapillary atrophy	OMIM:616188
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Highly arched eyebrow, Motor stereotypy, Attention deficit hyperactiv...	OMIM:618825
Even-Plus Syndrome	Highly arched eyebrow, Microtia, Sparse hair, Synophrys	OMIM:616854
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Myotonic Dystrophy 1	Feeding difficulties in infancy, Obsessive-compulsive trait, Dysphagia, Respiratory distress	OMIM:160900
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Bone pain, Premature los...	OMIM:602080
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Leigh Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:256000
Microphthalmia, Syndromic 6	Retrognathia, Female hypogonadism, Bifid uvula, Polydactyly, Abnormality of the hand, Hearing imp...	OMIM:607932
Holocarboxylase Synthetase Deficiency	Anorexia, Nausea and vomiting, Tachypnea, Respiratory distress	ORPHA:79242
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Chronic rhi...	OMIM:608647
Microvillus Inclusion Disease	Diarrhea, Abdominal distention, Abnormal small intestinal villus morphology, Villous atrophy	ORPHA:2290
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, In...	ORPHA:562639
Avian Influenza	Respiratory failure, Miscarriage, Pleural effusion, Congestive heart failure	ORPHA:454836
Thyroid Lymphoma	Dyspnea, Dysphagia, Respiratory distress	ORPHA:97285
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi...	ORPHA:63260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Neonatal death, Microcolon	OMIM:619362
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Single umbilical...	OMIM:603467
Cirrhotic Cardiomyopathy	Peripheral edema, Pulmonary edema, Hepatomegaly, Ascites	ORPHA:57777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Dysphagia, Respiratory distress	OMIM:620375
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds	ORPHA:35710
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Nail dystrophy, Motor stereotypy	OMIM:620502
Intellectual Developmental Disorder, X-Linked 12	Sensorineural hearing impairment, Cryptorchidism, Truncal obesity, Small for gestational age, Inc...	OMIM:300957
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Failure to thrive, Abnormality of skin pigmentation, Sparse hair, Alopecia	OMIM:616353
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Brittle hair, Compulsive behaviors, Chordee, Sparse hair, Attention deficit hyperact...	OMIM:618891
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Childhood Disintegrative Disorder	Abnormal emotion, Reduced social reciprocity, Motor stereotypy	ORPHA:168782
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Polyhydramnios, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm...	ORPHA:1052
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Multiple lentigines, Loose anagen hair, Hyperpigmentation of the skin,...	OMIM:607721
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	ORPHA:50918
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Death in infancy, Systolic heart murmur, Generalized edema, Overlapping toe, Cyanosis	OMIM:617478
Liver Disease, Severe Congenital	Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, Um...	OMIM:619991
Rajab Interstitial Lung Disease With Brain Calcifications 1	Reduced bone mineral density, Pectus excavatum, Ascites, Intestinal malrotation, Delayed skeletal...	OMIM:613658
Sotos Syndrome	Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Low-set ears, Cryptorchid...	OMIM:117550
Pontocerebellar Hypoplasia Type 1	Respiratory failure	ORPHA:2254
Myoectodermal Gonadal Dysgenesis Syndrome	Sensorineural hearing impairment, Delayed skeletal maturation, Bifid distal phalanx of the thumb,...	OMIM:618419
Warburg-Cinotti Syndrome	Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness	OMIM:618175
Huntington Disease-Like 1	Jerky head movements, Depression, Weight loss, Restlessness, Abnormal head movements	ORPHA:157941
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia	ORPHA:79476
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Chronic rhinitis	OMIM:242670
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Gallbladder Neuroendocrine Tumor	Neoplasm of the nervous system, Biliary tract neoplasm, Ascites, Neuroendocrine neoplasm	ORPHA:100086
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity, Cryptorchidism, Hypogonadism	ORPHA:363741
Letterer-Siwe Disease	Stomatitis, Abdominal distention	OMIM:246400
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A...	OMIM:617600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure, Premature birth, Pulmonary arterial hypertension	OMIM:613845
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, 2-3 toe syndactyly, Scoliosis, Prominent nasal tip, Bilateral talipes equinovarus, Eq...	ORPHA:522077
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Hardikar Syndrome	Decreased liver function, Hematemesis, Gastric varix, Mild hearing impairment, Cleft soft palate,...	OMIM:301068
Cyanosis, Transient Neonatal	Jaundice, Anemia, Reticulocytosis, Cyanosis, Methemoglobinemia	OMIM:613977
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Jaundice, Sensorineural hearing impairment, Failure to thrive, Dysphagia, ...	OMIM:617248
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Cryptorchidism, Hypogonadism	OMIM:601794
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death in i...	OMIM:610505
Familial Nasal Acilia	Dyspnea, Chronic sinusitis, Respiratory distress	ORPHA:922
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Ascites, Pericardial effusion, Hepatosplenomegaly, Edema	OMIM:619487
Desbuquois Syndrome	Abnormal eyelash morphology, Low-set, posteriorly rotated ears, Sparse hair	ORPHA:1425
Truncus Arteriosus	Pulmonary edema, Adrenocortical abnormality, Aortic regurgitation, Hypoplasia of the thymus, Pulm...	ORPHA:3384
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n...	ORPHA:529808
Meningioma	Decreased circulating cortisol level, Abnormal hypothalamus physiology, Reduced circulating prola...	ORPHA:2495
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sensorineural hearing impairment, Decreased body weight, Synophrys, Macrotia, Low anterior hairli...	ORPHA:391408
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Microtia, Congenital pyloric atresia, Vomiting, Oral mucosal blisters	ORPHA:158684
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Kyphoscoliosis, Short nose, Protruding ear, Streak ovary, Low-set ears, Cryptorchi...	OMIM:618820
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Short philtrum, Oligodontia, Microdontia, Anal atresia, Hypoplasia of the maxilla,...	OMIM:180500
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity, Anteri...	OMIM:618160
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Death in childhood, Death in infancy	OMIM:619423
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, H...	ORPHA:273
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Telangiectasia of the ...	ORPHA:679
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Hirsutism, Recurrent hand flapping, Low-set ears, Long eyelashes, Synophry...	OMIM:615485
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Hypoglycemia, Lethargy	ORPHA:156
Classic Phenylketonuria	Attention deficit hyperactivity disorder, Self-injurious behavior, Hypopigmentation of the skin, ...	ORPHA:79254
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hyperactivity, Hirsutism, Synophrys, Hearing impairment, Dysphagia, Hypertrichosis	OMIM:252930
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Thin vermilion border, High palate, Short stature, Hearing impairment,...	OMIM:619869
Idiopathic Pulmonary Hemosiderosis	Respiratory failure, Diffuse alveolar hemorrhage, Heart murmur	ORPHA:99931
Boomerang Dysplasia	Fibular aplasia, Hypoplastic nasal septum, Hypoplastic iliac body, Neonatal death, Severe short s...	OMIM:112310
Mucopolysaccharidosis, Type Iiia	Dense calvaria, Scoliosis, Asymmetric septal hypertrophy, Joint stiffness, Hearing impairment, Ov...	OMIM:252900
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Hyperactivity, Low-set ears, Polyphagia, C...	OMIM:615873
Adams-Oliver Syndrome 5	Esophageal varix, Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, ...	OMIM:616028
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Polyhydramnios, Proximal placement of thumb, Esophageal atresia, H...	OMIM:314390
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Thalidomide Embryopathy	Hearing impairment, Insulin resistance, Anotia, Abnormality of the outer ear	ORPHA:3312
Bronchopulmonary Dysplasia	Dyspnea, Central apnea, Respiratory distress	ORPHA:70589
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa...	OMIM:601596
Faundes-Banka Syndrome	Long ear, Gastroesophageal reflux, Microtia, Low-set ears, Feeding difficulties in infancy, Condu...	OMIM:619376
Tangier Disease	Hypertriglyceridemia, Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Orange disc...	ORPHA:31150
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Ascites	ORPHA:69665
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Abnormal vestibular ...	ORPHA:64
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Methemoglobinemia	ORPHA:621
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Curly hair, Sparse eyelashes, Cafe-au-lait spot, Absent e...	OMIM:615280
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Long eyelashes, Failure to thrive, Low anterior hairline, Sparse hair, Ovarian ...	OMIM:617883
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Developmental And Epileptic Encephalopathy 6B	Dystonia, Motor stereotypy, Choreoathetosis	OMIM:619317
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Clubbing, Cyanosis	ORPHA:747
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ...	ORPHA:3440
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Lymphadenopathy, Normochrom...	ORPHA:289390
Loeys-Dietz Syndrome 1	Retrognathia, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum, Arachnodactyly, Bi...	OMIM:609192
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Premature graying of hair, Metaphyseal striations, Fra...	OMIM:112250
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Tall stature, Abnormal earlobe morphology, Splenomegaly, Umbilic...	ORPHA:116
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Jaberi-Elahi Syndrome	Brittle hair, Low-set ears, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Sparse hair, Pro...	OMIM:617988
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:614935
Feingold Syndrome Type 1	Clinodactyly of the 5th finger, Esophageal atresia, Sensorineural hearing impairment, 2-3 toe syn...	ORPHA:391641
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Irritability, Hair-pulling, Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Protruding ...	ORPHA:447997
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te...	OMIM:619575
Baralle-Macken Syndrome	Obesity	OMIM:619255
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Solitary Fibrous Tumor	Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent...	ORPHA:2126
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Rhizomelia, Hyperactivity, Low frustration tolerance, Low-set ears,...	ORPHA:319182
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abdominal distention, Microcolon, Intestinal malrotation, Death in infancy, Hypoperistalsis, Naus...	ORPHA:2241
You-Hoover-Fong Syndrome	Hearing impairment, Accessory oral frenulum, Cleft palate, Paroxysmal bursts of laughter	OMIM:616954
Microphthalmia, Syndromic 1	Kyphoscoliosis, Radial deviation of finger, Dental crowding, Abnormal pinna morphology, Prominent...	OMIM:309800
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Tall stature, Inguinal hernia, Sensorineural hearing impairment, Overg...	OMIM:617107
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Glucagonoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hepatomegaly, Adrenocortical ...	ORPHA:97280
Episodic Ataxia Type 1	Nausea, Vertigo, Respiratory distress	ORPHA:37612
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Microphthalmia With Brain And Digit Anomalies	Proximal placement of thumb, Finger syndactyly, Sensorineural hearing impairment, High palate, Ab...	ORPHA:139471
Oculopalatocerebral Syndrome	Cleft palate	OMIM:257910
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadeno...	OMIM:619644
Renpenning Syndrome 1	Death in childhood, Cupped ear, Short philtrum, Low hanging columella, Mandibular prognathia, Poo...	OMIM:309500
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Recurrent hand flapping, Compulsive behaviors, Curly hair, Failure to thrive, Motor stereotypy, A...	OMIM:300986
X-Linked Intellectual Disability, Nascimento Type	Neutropenia, Compulsive behaviors, Hearing impairment, Macrotia, Neonatal hyperbilirubinemia, Rec...	ORPHA:163956
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood, Cerebral edema	OMIM:617186
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fetal distress, Fused cervical vertebrae, Stomatitis, Flaring of rib cag...	OMIM:612852
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Protein-losing enteropathy, Jaundice, Low-set ears, Hypertension, Es...	ORPHA:731
Ciliary Dyskinesia, Primary, 2	Sinusitis, Hearing impairment, Otitis media, Respiratory distress	OMIM:606763
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Cirrhosis, Familial	Ascites	OMIM:215600
Immunodeficiency 58	Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr...	OMIM:618131
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Diarrhea, Reye syndrome-like episodes, Dyspnea, Vomiting, Intermittent hype...	ORPHA:348
Senior-Loken Syndrome 9	Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism	OMIM:616629
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ...	ORPHA:3240
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mel...	OMIM:616026
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure	OMIM:263000
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Dyspnea, Respiratory distress	ORPHA:411703
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Cryptogenic Organizing Pneumonia	Anorexia, Dyspnea, Respiratory distress	ORPHA:1302
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Sparse hair, Alopecia	OMIM:242300
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Cholangitis, Panhypogammaglobulinemia	OMIM:615207
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Coccidioidomycosis	Abnormality of the endocrine system, Cerebral ischemia, Broad metatarsal, Granuloma, Pericarditis...	ORPHA:228123
Gaucher Disease Type 1	Hepatomegaly, Cholelithiasis, Ascites, Multiple myeloma, Hepatosplenomegaly, Splenomegaly	ORPHA:77259
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Hypothyroidism, Motor stereotypy, Protruding ear, EEG abnormali...	ORPHA:2479
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch...	OMIM:613266
Oculopharyngodistal Myopathy 1	Sensorineural hearing impairment, High palate, Dysphagia, Respiratory distress	OMIM:164310
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Low-set ears, Compulsive behaviors, Obesity, Protruding ear	OMIM:618443
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Anterior hypopituitarism, Sensorineural hearing impairment, D...	ORPHA:478
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Respiratory failure	OMIM:620296
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Subependymal Nodular Heterotopia	Abnormal ethmoid bone morphology, Occipital encephalocele, Nasofrontal encephalocele, Meningocele...	ORPHA:101030
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pleural effusion, Ascites, Pericardial effusion, Peripheral edema, Anasarca	OMIM:261740
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Sensorineural hearing impairment, Optic nerve hypopl...	ORPHA:226307
Mckusick-Kaufman Syndrome	Tarsal synostosis, Aganglionic megacolon, Abnormal metacarpal morphology, Finger syndactyly, Ecto...	ORPHA:2473
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Gingival overgrowth, High palate, Micrognathia, Tented upper...	OMIM:614098
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic v...	OMIM:601370
Squalene Synthase Deficiency	Hypospadias, Abnormality of hair pigmentation, Low-set ears, Bilateral cryptorchidism, Macrotia, ...	OMIM:618156
Chromosome 16P13.3 Duplication Syndrome	Short nose, Protruding ear, Wide nose, Anteverted nares, Microtia, Overfolded helix, Low-set ears...	OMIM:613458
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Patchy alopecia, Hearing impairment, Posteriorly rotated ears, Sparse hair	OMIM:617763
Rift Valley Fever	Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope...	ORPHA:319251
Slc39A8-Cdg	Osteopenia, Disproportionate short-limb short stature, Elbow flexion contracture, Low-set ears, S...	ORPHA:468699
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Cleft ala nasi, Breast aplasia, Wide nose, Mandibular prognathia, Hypoplasia o...	ORPHA:3044
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Abno...	ORPHA:209905
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Absent eyelashes, Overfolded helix, Sparse scalp hair,...	OMIM:268400
Lethal Congenital Contracture Syndrome 5	Polyhydramnios, Respiratory insufficiency, Thin ribs, Retinal hemorrhage, Congenital contracture,...	OMIM:615368
Lamellar Ichthyosis	Chronic otitis media, Abnormality of the nail, Abnormal helix morphology, Sparse hair, Aplasia/Hy...	ORPHA:313
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Purpura, Recurrent aphthous stomatitis, Lymp...	ORPHA:343
Peutz-Jeghers Syndrome	Abnormality of the nose, Intestinal obstruction, Esophageal neoplasm, Rectal prolapse, Neoplasm o...	ORPHA:2869
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e...	OMIM:614941
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Hearing impairment, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Failure to thrive, Macrotia, Sparse hair, Cryptorchidism	OMIM:219150
Clark-Baraitser syndrome	Tall stature, Obesity, Macroorchidism	OMIM:300602
Meckel Syndrome, Type 3	Cleft palate	OMIM:607361
Ablepharon-Macrostomia Syndrome	Single umbilical artery, Clinodactyly of the 5th finger, Absent lanugo, Premature skin wrinkling,...	OMIM:200110
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Nasal polyposis	OMIM:620197
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Pulmonic stenosis, Sinusitis, Granuloma, Long ph...	ORPHA:363700
Loeys-Dietz Syndrome	Orofacial cleft, Joint dislocation, Pectus carinatum, Scoliosis, Cardiac arrest, Pectus excavatum...	ORPHA:60030
Stt3B-Cdg	Feeding difficulties, Respiratory distress	ORPHA:370924
Breath-Holding Spells	Cyanosis, Iron deficiency anemia	OMIM:607578
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Nasal congestion, Nasal polyposis	OMIM:616037
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal pinna morphology, Low-set ears, Obesity, Weight loss, A...	ORPHA:251071
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Tongue thrusting, Underdeveloped superior crus of antihelix, Abnormality of the pineal gland, Com...	ORPHA:369950
Costello Syndrome	Keratoconus	ORPHA:3071
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Cryptorchidism, Decreased testicular size, Eunuchoid habitus, Sparse pubic hair, Sma...	OMIM:308700
White-Kernohan Syndrome	Short nose, Retrognathia, Recurrent otitis media, Gastroesophageal reflux, Rectovaginal fistula, ...	OMIM:619426
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Inguinal hernia, Overgrowth, Precocious puberty, Failure to thrive, He...	ORPHA:261652
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Thoracic kyphosis, Limitatio...	OMIM:609162
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Prolonged QT interval, Pectus excavatum, Delayed skeletal maturation, Short 4th ...	ORPHA:1772
Acrocephalopolydactylous Dysplasia	Short nose, Hypoplasia of the small intestine, Abnormal pinna morphology, Postaxial hand polydact...	OMIM:200995
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Scoliosis, Exaggerated cupid's bow, Narrow mouth, Low-set ears, D...	OMIM:619480
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact...	OMIM:217085
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Cl...	OMIM:600376
Zygomycosis	Pancreatitis, Mediastinal lymphadenopathy, Abnormal cranial nerve morphology, Splenic abscess, Br...	ORPHA:73263
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Respiratory distress	OMIM:212140
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Orofacial cleft, Gastroesophageal reflux, Respiratory distress, Sensorineural hearing impairment,...	ORPHA:17
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism	OMIM:307500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Hijazi-Reis Syndrome	Postnatal growth retardation, Motor stereotypy	OMIM:301094
Mednik Syndrome	Cataract, Death in childhood, Neonatal death, Death in infancy	OMIM:609313
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Melena, Palpitations, Capillary leak, Hypertension, Pleural effusio...	ORPHA:340
X-Linked Intellectual Disability, Armfield Type	Long ear, Short philtrum, Mandibular prognathia, Macrotia, Downturned corners of mouth, Cleft pal...	ORPHA:85276
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Rabin-Pappas Syndrome	Sensorineural hearing impairment, Optic nerve hypoplasia, Overgrowth, Hyponatremia, Obesity, Cond...	OMIM:620155
Caroli Disease	Hepatomegaly, Cholelithiasis, Ascites, Splenomegaly, Cholangiocarcinoma	ORPHA:53035
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Increased c...	ORPHA:449427
Chronic Pneumonitis Of Infancy	Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress	ORPHA:91359
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Cleft palate, Low-set ears	OMIM:611812
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hearing impairment, Failure to thrive, Sparse hair, Hyperconvex nail	OMIM:619721
Congenital Myopathy 13	High palate, Low-set ears, Conductive hearing impairment, Downturned corners of mouth, Cleft pala...	OMIM:255995
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Addictive alco...	ORPHA:1930
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Sensorineural hearing impairmen...	OMIM:216400
Gaucher Disease Type 3	Delayed puberty, Hydrops fetalis, Anemia, Avascular necrosis, Pancytopenia, Increased bone minera...	ORPHA:77261
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Menkes Disease	Alopecia, Hypopigmentation of the skin, Sparse hair, Brittle hair	OMIM:309400
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:615444
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Lipoatrophy, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Hepatoerythropoietic Porphyria	Osteopenia, Erythrodontia, Osteoporosis, Hemolytic anemia, Abnormality of the amniotic fluid, Fra...	ORPHA:95159
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Respiratory insufficiency, Tracheoesophageal fistula, Abno...	ORPHA:93941
Keppen-Lubinsky Syndrome	Short philtrum, Narrow nasal bridge, Prominent nasal tip, Gingival overgrowth, High palate, Micro...	ORPHA:435628
Congenital Erythropoietic Porphyria	Osteopenia, Erythrodontia, Fragile skin, Osteoporosis, Reticulocytosis, Poikilocytosis, Hemolytic...	ORPHA:79277
High Altitude Pulmonary Edema	Pulmonary edema, Vertigo, Leukocytosis, Hypoxemia, Tachycardia, Cyanosis	ORPHA:330012
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Impulsivity, Cryptorchidism, Hearing impair...	ORPHA:500055
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Ankle clonus, Hearing impairment, Abn...	ORPHA:206436
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Vomiting, Nausea, Neonatal death	OMIM:231680
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Thyroid Ectopia	Constipation, Abdominal distention, Macroglossia, Dysphagia	ORPHA:95712
Bardet-Biedl Syndrome 17	Polydipsia, Obesity, Hypogonadism	OMIM:615994
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly	OMIM:606056
Trichothiodystrophy	Anemia, Increased mean corpuscular hemoglobin concentration, Bilateral sensorineural hearing impa...	ORPHA:33364
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM l...	ORPHA:505248
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Tongue thrusting, Hypopigmentation of the skin, Iris hypopigmentation, ...	ORPHA:98795
Acute Intermittent Porphyria	Abdominal distention, Diarrhea, Abdominal pain, Constipation, Nausea and vomiting, Ileus, Pseudob...	ORPHA:79276
Cardiac Valvular Dysplasia 1	Hydrops fetalis, Valvular pulmonary stenosis, Tricuspid stenosis, Tricuspid regurgitation, Subpul...	OMIM:212093
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f...	ORPHA:168491
Toxic Epidermal Necrolysis	Polydipsia, Anemia, Pancreatitis, Thrombocytopenia, Dysphagia, Weight loss, Neutropenia	ORPHA:537
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements, Paroxysmal dystonia, Dystonia, Generalized dystonia, Choreoathetosis	OMIM:245348
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity, Achilles tendon contracture, Hyperalaninemia, Elevated circulating creatine kinase conce...	OMIM:615418
Hermansky-Pudlak Syndrome	Anorexia, Abnormal dental enamel morphology, Abnormality of visual evoked potentials, Weight loss...	ORPHA:79430
Polycystic Ovary Syndrome 1	Obesity, Enlarged polycystic ovaries	OMIM:184700
Multiple Endocrine Neoplasia Type 2	Abdominal distention, Aganglionic megacolon, Abnormal tongue morphology, Ganglioneuromatosis, Dia...	ORPHA:653
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair...	ORPHA:1806
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Opitz Gbbb Syndrome	Hypodontia, Anteverted nares, Ectopic anus, High palate, Low-set ears, Ankyloglossia, Tracheoesop...	ORPHA:2745
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Pheochromocytoma, Scoliosis, Lymphedema, Hemiatrophy, Spina bifida, Pre...	ORPHA:2874
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Diamond-Blackfan Anemia 21	Anemia, Erythroid hypoplasia, Low-set ears, Obesity, Thrombocytopenia, Protruding ear	OMIM:620072
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Obesity, Decreased body weight, Dysphagia	ORPHA:589821
Fumarase Deficiency	Polyhydramnios, Cutaneous leiomyoma, Ascites	OMIM:606812
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Hepatomegaly, Ascites	OMIM:251880
Severe Acute Respiratory Syndrome	Dyspnea, Respiratory distress	ORPHA:140896
Eosinophilic Fasciitis	Arthritis, Muscular edema, Abnormal eosinophil morphology, Acrocyanosis, Edema, Eosinophilia	ORPHA:3165
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitary hypothyroidi...	OMIM:615926
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Sensorineural hearing impairment, Microtia, Low-set ears, Growth de...	OMIM:301040
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Hepatocellular carcinoma, Low-set ears, Papillary thyroid carcin...	OMIM:118450
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Hypophosphatemic Bone Disease	Short stature, Rickets, Bowing of the legs, Osteomalacia	OMIM:146350
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Dysphagia, Motor stereotypy	ORPHA:79264
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Hypsarrhythmia, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Thrombocytop...	ORPHA:457351
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Gaucher Disease, Type Ii	Gastroesophageal reflux, Death in infancy, Feeding difficulties, Dysphagia, Trismus, Protuberant ...	OMIM:230900
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Brucellosis	Lung abscess, Liver abscess, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgG lev...	ORPHA:1304
Aredyld Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Cachexia, Sparse body hair, Aplasi...	ORPHA:1133
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Sensorineural hearing impairment, Microtia, Hypoplastic philtrum, Wide mouth, Anteverted nares, P...	OMIM:309580
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Scoliosis, Short stature, Joint hypermobility, Bowing of limbs due to m...	OMIM:615220
Intellectual Developmental Disorder, Autosomal Dominant 54	Bruxism, Neutropenia, Small for gestational age, Aggressive behavior	OMIM:617799
Norrie Disease	Delayed puberty, Irritability, Erectile dysfunction, Sensorineural hearing impairment, Abnormal h...	ORPHA:649
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Cyanosis	OMIM:207950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Intention tremor, Dystonia, Motor stereotypy, Motor tics, Attention deficit hyper...	OMIM:619725
Hypermobile Ehlers-Danlos Syndrome	Dental crowding, Vertigo, Microdontia, Arachnodactyly, Epistaxis, Umbilical hernia, Joint hypermo...	ORPHA:285
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Inhalational Anthrax	Vomiting, Dyspnea, Respiratory distress	ORPHA:247257
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:619260
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Maternal diabetes, Abnormality of blood circulati...	ORPHA:860
Townes-Brocks Syndrome	Delayed puberty, Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Wide mouth, Aplasi...	ORPHA:857
Hsd10 Disease, Infantile Type	Hearing impairment, Cyanosis, Hypertrophic cardiomyopathy	ORPHA:391428
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Sensorineural hearing impairment, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Microtia, Microdontia, Bilateral triphalangeal thumbs, Absent radius, D...	OMIM:149730
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure	OMIM:620327
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Low-set ears, Frequent temper tantrums, Hearing impairment, Obesity, Attention def...	OMIM:616078
Listeriosis	Myocarditis, Congestive heart failure, Stiff neck, Liver abscess, Jaundice, Arteritis, Splenic ab...	ORPHA:533
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity diso...	OMIM:610042
Primary Sclerosing Cholangitis	Hepatomegaly, Cholelithiasis, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, As...	ORPHA:171
Neurofibromatosis, Type I	Aqueductal stenosis, Genu valgum, Hydrocephalus, Pheochromocytoma, Scoliosis, Hypertension, Pectu...	OMIM:162200
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Generalized lymphadenopathy, Elev...	ORPHA:829
Carnitine Palmitoyltransferase I Deficiency	Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine kinase concentr...	OMIM:255120
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Childhood Absence Epilepsy	Jerky head movements, Abnormal social behavior, Depression, Punding, Attention deficit hyperactiv...	ORPHA:64280
Buerger Disease	Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live...	ORPHA:36258
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis, Jaundice, Cholelithiasis, Reticulocytosis, Poikilo...	ORPHA:288
Trisomy 10P	EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote...	ORPHA:171929
Abetalipoproteinemia	Osteopenia, Congestive heart failure, Steatorrhea, Kyphoscoliosis, Anemia, Pes cavus, Distal lowe...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Protruding ear, Sandal gap, Mandibular prognathia, Prominent nasal tip, High palate, ...	OMIM:620330
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Abnormal testis morphology, Femoral hernia, Hearing impairment, Failure to thriv...	ORPHA:96147
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Impulsivity, EEG abnormality, Bruxism, Hepatic steatosis, Aggress...	OMIM:619475
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Sparse hair, Subungual hyperkeratosis, Alopecia universalis	OMIM:614594
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Macs Syndrome	Decreased body weight, Hypergonadotropic hypogonadism, Sparse eyebrow, Sparse hair, Cryptorchidis...	OMIM:613075
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Lymphedema, Finger aplasia, Hand polydactyly, Lymphangioma, Syndactyly	OMIM:149000
Houge-Janssens Syndrome 3	Inguinal hernia, Motor stereotypy, Umbilical hernia, Attention deficit hyperactivity disorder, Se...	OMIM:618354
Chops Syndrome	Optic atrophy, Hearing impairment, Obesity, Splenomegaly, Cryptorchidism, Thickened helices	OMIM:616368
Adult Syndrome	Breast hypoplasia, Finger syndactyly, Hypoplastic nipples, Abnormality of the dentition, Absent n...	ORPHA:978
Relapsing Fever	Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased ...	ORPHA:91547
Bathing Suit Ichthyosis	Nail dystrophy, Sparse hair, Alopecia	ORPHA:100976
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistul...	OMIM:107480
Huntington Disease-Like 3	Abnormal head movements, Dystonia, Flexion contracture	ORPHA:157946
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Increased circulat...	ORPHA:79078
Adams-Oliver Syndrome 1	Cleft upper lip, Cleft palate	OMIM:100300
Gapo Syndrome	Keratoconus, Shallow anterior chamber, Megalocornea	OMIM:230740
Hereditary Fructose Intolerance	Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti...	ORPHA:469
Gapo Syndrome	Keratoconus	ORPHA:2067
Bardet-Biedl Syndrome 20	Pancreatitis, Bilateral cryptorchidism, Obesity, Papilledema, Male hypogonadism, Hypercholesterol...	OMIM:619471
Cockayne Syndrome B	Optic atrophy, Severe failure to thrive, Decreased nerve conduction velocity, Hepatomegaly, Senso...	OMIM:133540
1P21.3 Microdeletion Syndrome	Long ear, Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive...	ORPHA:293948
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Joi...	OMIM:616881
Olmsted Syndrome 2	Alopecia universalis, Woolly hair, Sparse hair	OMIM:619208
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Failure to thrive, Hyperammonemia, Leukopen...	OMIM:222700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Highly arched eyebrow, Secondary ameno...	ORPHA:572333
Mucolipidosis Type Ii	Sensorineural hearing impairment, Gingival overgrowth, Conductive hearing impairment, Depressed n...	ORPHA:576
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Hypothyroidism, Congenital, Nongoitrous, 2	Constipation, Abdominal distention, Macroglossia, Feeding difficulties in infancy	OMIM:218700
Combined Oxidative Phosphorylation Deficiency 19	Poor suck, Feeding difficulties, Gastroesophageal reflux, Respiratory distress	OMIM:615595
Fanconi Renotubular Syndrome 3	Growth delay, Rickets, Bowing of the legs, Short stature	OMIM:615605
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Jaundice, Hypsarrhythmia, Cryptorchidism, Obesity, Hypogonadism, Diabetes mellitus...	OMIM:614231
Ifap Syndrome 2	Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hydrops fetalis, Polyhydramnios, Fetal polyuria, Premature birth, Edema	OMIM:602522
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality	OMIM:607485
Megalencephaly	Truncal obesity, Macroorchidism	ORPHA:2477
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Protruding ear, Toenail dysplasia, Oral-pharyngeal dysphagia, Hirsutism, Lo...	OMIM:300966
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Motor stereotypy	ORPHA:529965
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Hearing impairment, Obesity, Posteriorly rotated ears, Dysphagia, Attention deficit hyperactivity...	ORPHA:466950
Metachromatic Leukodystrophy, Juvenile Form	Abnormal social behavior, Emotional lability, Bilateral sensorineural hearing impairment, Intenti...	ORPHA:309263
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Autoimmune hemolytic anemia, Abnormality of the endocrine system, Primary hypoth...	ORPHA:391487
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Isolated Atp Synthase Deficiency	Sensorineural hearing impairment, Respiratory distress	ORPHA:254913
Reynolds Syndrome	Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia	OMIM:613471
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Sparse hair	OMIM:619910
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia	ORPHA:439232
Xfe Progeroid Syndrome	Ascites	OMIM:610965
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal distention, Abdominal pain	ORPHA:160
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, D...	OMIM:252010
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Intestinal duplication, Hemiv...	ORPHA:93929
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
Biliary, Renal, Neurologic, And Skeletal Syndrome	Everted lower lip vermilion, Left-to-right shunt, Ascites, Broad thumb, Prolonged neonatal jaundi...	OMIM:619534
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ...	ORPHA:999
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Abnormality of the nail, Unilater...	ORPHA:1010
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Inguinal hernia, Flexion contracture of digit, Hyperactivity, Sensorine...	ORPHA:580
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Growth delay, Motor stereotypy, Head tremor	OMIM:619428
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Gastroesophageal reflux, Respiratory distress, Poor suck, Death in infancy, V...	OMIM:618426
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Absent nipple, Sparse hair, Brittle hair	OMIM:614940
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Plague	Hematemesis, Anorexia, Respiratory distress, Glossitis, Abdominal pain, Diarrhea, Bloody diarrhea...	ORPHA:707
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
17Q11 Microdeletion Syndrome	Delayed puberty, Pheochromocytoma, Hypertension, Gastrointestinal stroma tumor, Kyphosis, Pulmoni...	ORPHA:97685
Sirenomelia	Sirenomelia, Anal atresia, Tracheoesophageal fistula, Spina bifida, Aplasia/Hypoplasia of the rad...	ORPHA:3169
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Highly arched eyebrow, Slow-growing hair, Overfolded helix, Low-set ears,...	OMIM:617506
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hypertension, Hypovolemic shock, Hypotension,...	ORPHA:2912
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Metachromatic Leukodystrophy, Late Infantile Form	Abdominal distention, Bilateral sensorineural hearing impairment, Feeding difficulties in infancy	ORPHA:309256
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sensorineural hearing impairment, Abnormal fingernail morphology, Sparse hair, Alopecia	ORPHA:659
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia, Class III obesity	OMIM:616418
Pilarowski-Bjornsson Syndrome	Broad eyebrow, Motor stereotypy, Long eyelashes	OMIM:617682
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Otosclerosis, Microtia, Progressive conductive hearing impairment, Failur...	ORPHA:529962
Cerebrotendinous Xanthomatosis	Optic atrophy, Agitation, Decreased nerve conduction velocity, Cholelithiasis, Abnormal auditory ...	ORPHA:909
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Respiratory distress, Low-set ears, Impaired oral bolus formation, Imp...	OMIM:615273
Ophthalmoplegia, External, And Myopia	Absent Achilles reflex, Absent patellar reflexes, Spina bifida	OMIM:311000
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Respiratory failure	ORPHA:280210
Laurence-Moon Syndrome	Obesity	OMIM:245800
Currarino Syndrome	Abdominal distention, Perianal abscess, Gastrointestinal obstruction, Anal stenosis, Rectovaginal...	OMIM:176450
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil...	ORPHA:186
Tricuspid Atresia	Cyanosis	ORPHA:1209
Multiple Mitochondrial Dysfunctions Syndrome 7	Respiratory failure requiring assisted ventilation, Anteverted nares, Gingival overgrowth, Thromb...	OMIM:620423
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Respiratory distress	ORPHA:264675
Glycogen Storage Disease Due To Acid Maltase Deficiency	Exertional dyspnea, Respiratory distress, Bowel incontinence, Hearing impairment, Orthopnea, Dysp...	ORPHA:365
Incontinentia Pigmenti	Kyphoscoliosis, Breast hypoplasia, Conical tooth, Delayed eruption of teeth, Breast aplasia, Olig...	OMIM:308300
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m...	OMIM:222470
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial...	ORPHA:137675
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h...	ORPHA:99103
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Emotional labili...	ORPHA:353281
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Periorbital hyperpigmentation, Sparse hair	OMIM:224900
Noonan Syndrome 14	Low-set ears, Low posterior hairline, Curly hair, Sparse eyebrow, Posteriorly rotated ears, Spars...	OMIM:619745
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behaviors, Frequent tem...	OMIM:619512
Aicardi-Goutieres Syndrome 1	Purpura, Diabetes insipidus, Petechiae, Vasculitis, Cardiomyopathy, Short stature, Hypothyroidism...	OMIM:225750
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Atresia Of Urethra	Oligohydramnios, Ascites	ORPHA:105
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Hamartoma of tongue, 2-3 finger syndactyly, Cryptorchidism	ORPHA:1338
Dent Disease	Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement of the ankles, B...	ORPHA:1652
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Narrow chest, Short long bone, Bilateral talipes equinovarus, K...	OMIM:620454
Igg4-Related Kidney Disease	Decreased circulating complement C3 concentration, Abnormality of the anterior pituitary, Lymphad...	ORPHA:449395
Congenital Myopathy 9A	Obesity, Cryptorchidism	OMIM:618822
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Mirizzi Syndrome	Anorexia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abdominal colic	ORPHA:521219
Amyotrophic Lateral Sclerosis	Respiratory failure, Xerostomia	ORPHA:803
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia, Gait disturbance	OMIM:616260
Rothmund-Thomson Syndrome	Aplastic anemia, Calcinosis, Anemia, Abnormal dental enamel morphology, Small for gestational age...	ORPHA:2909
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatocellular carcinoma, Ascites, Hepatomegaly	OMIM:256810
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Decreased circulating antibody level, Anemia	ORPHA:79396
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Colitis	ORPHA:309031
Joubert Syndrome 5	Cleft palate, Central apnea, Episodic tachypnea, Aggressive behavior	OMIM:610188
Cocaine Intoxication	Gastrointestinal infarctions, Hyperventilation, Agitation, Respiratory distress, Abdominal pain, ...	ORPHA:90068
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal periodontium morphology, Low-set, posteriorly rotated ears, Tooth malposition, Respirato...	ORPHA:480880
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ...	ORPHA:79318
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity, Streak ovary, Cryptorchidism	OMIM:194072
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Hepatomegaly, Pleural effusion, Ascites	OMIM:306400
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Hepatomegaly, Ascites	OMIM:301072
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Low-set ears, Obesity, Motor stereotypy, Cryptorchidism, Supernumerary nipple, O...	OMIM:618653
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Depression, Paroxysmal dystonia, Motor stereotypy	ORPHA:98784
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Chronic monilial nail infection, Hearing impairment, Sparse hair,...	OMIM:158310
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab...	ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:618329
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent ear helix, Posteriorly rotated ears, Sparse hair, Fine hair, Cryptorchidism	OMIM:614438
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Intrauterine growth retardation, Attention deficit hyperactivity disor...	ORPHA:464311
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Anasarca, Hepatomegaly, Ascites, Bile duct proliferation	OMIM:203700
Thoracic Outlet Syndrome	Edema, Abnormal rib morphology	ORPHA:97330
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Odontoonychodermal Dysplasia	Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ...	OMIM:257980
Pitt-Hopkins Syndrome	Self-injurious behavior, Thickened helices, Motor stereotypy, Cupped ear	OMIM:610954
Niemann-Pick Disease Type C	Hydrops fetalis, Respiratory insufficiency, Fetal ascites, Ascites, Respiratory failure	ORPHA:646
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Leukocyte Adhesion Deficiency	Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Leukocytosis, Abnormality of neu...	ORPHA:2968
Nasolacrimal Duct Cyst	Episodic respiratory distress, Poor suck, Paroxysmal dyspnea, Intercostal retractions	ORPHA:141083
Metachromatic Leukodystrophy, Adult Form	Abnormal social behavior, Depression, Emotional lability, Bilateral sensorineural hearing impairm...	ORPHA:309271
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Elbow flexion contracture, EEG with focal epileptiform discharges, Obesity, Hip co...	OMIM:618493
Criss-Cross Heart	Respiratory insufficiency, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Cyanosis, Supr...	ORPHA:1461
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Abdominal distention, Gastrointestinal inflammation, Oral-pharyngeal dysphagia, Diarrhe...	ORPHA:95455
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Polyhydramnios, Ascites	OMIM:617156
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Macroorchidism, Aggressive behavior	ORPHA:85327
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A...	ORPHA:99027
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Okamoto Syndrome	Short nose, Anal stenosis, Gastroesophageal reflux, Anteverted nares, Underdeveloped nasal alae, ...	ORPHA:2729
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Fasting hypoglycemia, Hyperuricemia, Hyperlipidemia, Hypoglycemia	OMIM:232200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Narrow mouth, Short stature, Flexion contracture, Mild short stature	OMIM:614833
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Aplasia of the epiglottis, Low-set, posteriorly rotated ears, Cleft palate, ...	ORPHA:434179
Wilson Disease	Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma, Ascites, Splenomegaly, Edema, Pedal e...	OMIM:277900
Peutz-Jeghers Syndrome	Rectal prolapse, Oral melanotic macule, Labial melanotic macule, Nasal polyposis, Hamartomatous p...	OMIM:175200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger p...	ORPHA:404454
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Thick hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia	OMIM:607626
Bacterial Toxic-Shock Syndrome	Respiratory distress, Diarrhea, Abdominal pain, Sinusitis, Vomiting, Nausea, Peritonitis, Tachypnea	ORPHA:36234
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Low-set ears, Low posterior hairline, Cafe-au-lait spot, Failure to thrive...	OMIM:613563
Kabuki Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Precocious puberty, Failure to...	ORPHA:2322
Cutis Marmorata Telangiectatica Congenita	Hypertension, Short lower limbs, Cutis marmorata, Bowing of the legs, Telangiectasia	OMIM:219250
Idiopathic Hypereosinophilic Syndrome	Abdominal distention, Chronic diarrhea, Abdominal pain, Vomiting, Malabsorption, Dysphagia, Feedi...	ORPHA:3260
Yellow Fever	Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In...	ORPHA:99829
Carney Complex	Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Pituitar...	ORPHA:1359
Tyrosinemia, Type I	Splenomegaly, Hepatocellular carcinoma, Ascites, Hepatomegaly	OMIM:276700
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Tachypnea, Cholesteatoma, Respiratory distress	OMIM:610978
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Sensorineural hearing impairment, Microcolon	OMIM:619351
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Multilobulated spleen, Inguinal hernia, Low-set ears, Hypoplasti...	OMIM:601186
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Dermatomyositis	Sinus tachycardia, Gastrointestinal stroma tumor, Pericarditis, Shawl sign, Respiratory insuffici...	ORPHA:221
Lujo Hemorrhagic Fever	Respiratory distress, Diarrhea, Fulminant hepatitis, Vomiting, Nausea, Abdominal cramps, Dysphagi...	ORPHA:319213
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia, Cyan...	ORPHA:159
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Anosmia, Chronic rhinitis, Absent outer dynein arms	OMIM:244400
Primary Hyperoxaluria	Heart block, Bone pain, Rootless teeth, Cardiomyopathy, Abnormality of the dentition, Intermitten...	ORPHA:416
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Parotitis...	ORPHA:99827
Pancreatoblastoma	Diarrhea, Abdominal distention, Vomiting, Abdominal pain	ORPHA:677
Autosomal Recessive Spastic Paraplegia Type 11	Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Obesity, Dysphagia, Ove...	ORPHA:2822
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite, Malabsorption	OMIM:227810
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Neuroblastoma	Abdominal distention, Chronic diarrhea	ORPHA:635
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Myasthenia Gravis	Acrocyanosis, Rheumatoid arthritis, Pure red cell aplasia, Primary adrenal insufficiency, Hashimo...	ORPHA:589
Carnitine Palmitoyltransferase Ii Deficiency	Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, Dec...	ORPHA:157
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Sensorineural hearing impairment, Low-set ears, Hearing impairment, Sparse hair, Cry...	OMIM:300661
Familial Mediterranean Fever	Splenomegaly, Ascites, Orchitis, Pedal edema	ORPHA:342
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Thick hair, Low-set ears, Failure to thrive, Sparse hair, Coarse hair	ORPHA:357074
Senior-Boichis Syndrome	Hepatosplenomegaly, Ascites	ORPHA:84081
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the anterior pituitary, Lymphadenopathy, Cholangitis, Pa...	ORPHA:449563
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Ascites	ORPHA:464321
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Corneal neovascularization, Hypertension, Death in infancy, Umbilical hernia, Oligohydramnios, Hi...	OMIM:308205
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Acrocyanosis	ORPHA:2400
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Attention deficit hyperactivity disorder, Growth delay, Motor stereotypy, Aggressive behavior	OMIM:619121
Wildervanck Syndrome	Fused cervical vertebrae, Congenital sensorineural hearing impairment, Meningocele	ORPHA:3456
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Mixed hearing impairment, Low-set, posteri...	ORPHA:444077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Round ear, Cafe-au-lait spot, Hearing impairment, Sparse hair, Small for gestationa...	OMIM:614114
Acquired Purpura Fulminans	Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial hemorrhage, Acrocyanosis, Shock	ORPHA:49566
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large placenta, Polyhydramnios, Coat hanger sign of ribs, Thoracic ...	ORPHA:254534
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Intention tremor, Abnormal social behavior, Aggressive behavior	ORPHA:314647
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased body weight, Decreased hemoglobin concentration, Thrombocytopenia, Motor ...	OMIM:619005
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Cryptorchidism, Precocious puberty, Motor stereotypy	OMIM:620073
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Dysphagia, Motor stereotypy	ORPHA:572013
Ethylene Glycol Poisoning	Congestive heart failure, Pulmonary edema, Prolonged QT interval, Gastritis, Atrial fibrillation,...	ORPHA:31826
Caudal Duplication	Intestinal duplication, Vertebral segmentation defect, Bifid sacrum, Myelomeningocele, Spina bifi...	ORPHA:1756
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Low-set ears, Attention deficit hyperactivity disorder, Short ear, Short stature, ...	OMIM:614756
Pagod Syndrome	Abnormal clavicle morphology, Encephalocele, Meningocele, Abnormal testis morphology, Abnormal ri...	ORPHA:991
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Low-set ears, Camptodactyly, Hearing impairment, Short stature, Posteriorly rotate...	OMIM:309590
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Polycythemia, Cyanosis, Methemoglobinemia	OMIM:250800
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hypoadrenocorticism, Familial	Adrenal hypoplasia, Cyanosis, Adrenal insufficiency	OMIM:240200
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Rectovaginal fistula, Postaxial hand polydactyly, Anal atresia, Congenital...	OMIM:236700
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Respiratory distress, Anal atresia, Tracheoesophageal fistula, Intestinal ...	ORPHA:210122
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Abnormal fingernail morpholo...	ORPHA:678
Microsporidiosis	Adrenocortical abnormality, Pancreatitis, Cholangitis, Thyroiditis, Lymphadenitis, Biliary tract ...	ORPHA:2552
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly, Optic disc pallor	OMIM:612291
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu...	ORPHA:64744
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Aplasia of the epiglottis, Low-set ears, Micrognathia, Cleft palate, Lobulat...	OMIM:615948
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia	OMIM:268130
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating c...	ORPHA:228308
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Mitochondrial Dna-Associated Leigh Syndrome	Hyperventilation, Episodic vomiting, Sensorineural hearing impairment, Dyspnea, Apnea, Dysphagia,...	ORPHA:255210
Cerebellar-Facial-Dental Syndrome	Low-set ears, Failure to thrive, Sparse eyebrow, Sparse hair, Fine hair, Cryptorchidism	ORPHA:444072
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Low-set ears, Failure to thrive, Sparse eyebrow,...	OMIM:244450
Monosomy 22Q13.3	Hair-pulling, Hyperactivity, Hearing impairment, Macrotia, Obesity, Umbilical hernia, Bruxism	ORPHA:48652
Grange Syndrome	Renovascular hypertension, Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, I...	OMIM:602531
Hypotonia, Ataxia, And Delayed Development Syndrome	Small earlobe, Low-set ears, Short stature, Posteriorly rotated ears, Dysphagia, Motor stereotypy...	OMIM:617330
Fabry Disease	Abnormal circulating lipid concentration, Delayed puberty, Anorexia, Optic atrophy, Anemia, Diabe...	ORPHA:324
Biotinidase Deficiency	Respiratory distress, Sensorineural hearing impairment, Hearing impairment, Apnea, Hyperventilation	ORPHA:79241
Neuromuscular Oculoauditory Syndrome	Sensorineural hearing impairment, Posteriorly rotated ears, Simple ear, Respiratory distress	OMIM:618733
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Obesity	OMIM:617296
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F...	OMIM:203300
African Trypanosomiasis	Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormality of ...	ORPHA:3385
Sandifer Syndrome	Abnormal head movements, Torticollis, Hiatus hernia	ORPHA:71272
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Ogden Syndrome	Recurrent otitis media, Maternal diabetes, Iron deficiency anemia, Inguinal hernia, Jaundice, Mac...	OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 68	Attention deficit hyperactivity disorder, Absent earlobe, Posteriorly rotated ears, Sparse hair	OMIM:619934
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
De Barsy Syndrome	Bilateral sensorineural hearing impairment, Low-set ears, Failure to thrive, Sparse hair, Large e...	ORPHA:2962
Scalp-Ear-Nipple Syndrome	Breast aplasia, Abnormal antihelix morphology, Small earlobe, Microtia, Underdeveloped tragus, Un...	ORPHA:2036
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Marburg Hemorrhagic Fever	Anorexia, Elevated circulating creatinine concentration, Jaundice, Pancreatitis, Hypokalemia, Lym...	ORPHA:99826
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Hyper-Igd Syndrome	Lymphadenopathy, Vertigo, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenome...	OMIM:260920
Fucosidosis	Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Abnormality of the dentition, Ky...	ORPHA:349
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia	OMIM:619708
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Hy...	OMIM:248250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Highly arched eyebrow, Hypoplastic nipples, Overfolded helix, Sparse l...	OMIM:280000
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Arthritis, Scoliosis, Neonatal alloimmune thrombocytopenia, Low-set e...	ORPHA:51
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulatin...	OMIM:250790
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Camptodactyly, Growth delay, Contracture of the proximal interph...	OMIM:301044
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelom...	OMIM:600145
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Cry...	ORPHA:2108
Congenital Tracheomalacia	Esophageal atresia, Tracheomalacia, Respiratory insufficiency, Tracheobronchomalacia, Tracheoesop...	ORPHA:95430
Arima Syndrome	Anemia, Hypertension, Postaxial hand polydactyly, Esophageal varix, Growth delay, Occipital menin...	OMIM:243910
Williams-Beuren Syndrome	Obsessive-compulsive trait, Recurrent otitis media, Glucose intolerance, Inguinal hernia, Sensori...	OMIM:194050
Oeis Complex	11 pairs of ribs, Rectovaginal fistula, Hydrocephalus, Hemivertebrae, Anal atresia, Congenital hi...	OMIM:258040
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Neuropathic arthropathy, Orthostatic hypotension, Scoliosis, Hypertension, Growth delay, Acrocyan...	OMIM:223900
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Central cyanosis, Tricuspid regurgit...	OMIM:620067
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis	ORPHA:2004
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Sensorineural he...	ORPHA:163746
Granulomatosis With Polyangiitis	Nasal mucosa vasculitis, Oral ulcer, Concave nasal ridge	OMIM:608710
Cryptococcosis	Respiratory distress, Dyspnea, Vomiting, Peritonitis, Abnormality of the outer ear	ORPHA:1546
Tuberous Sclerosis Complex	Generalized abnormality of skin, Pancreatic endocrine tumor, Pheochromocytoma, Hypertension, Inte...	ORPHA:805
Naxos Disease	Nail dystrophy, Woolly hair, Curly hair, Onycholysis, Sparse body hair, Sparse eyebrow, Subungual...	OMIM:601214
Congenital Tracheal Stenosis	Abnormal earlobe morphology, Respiratory distress, Meckel diverticulum, Dyspnea, Anal atresia, Tr...	ORPHA:141127
Colchicine Poisoning	Diarrhea, Nausea, Vomiting, Respiratory distress	ORPHA:31824
Absence Of The Pulmonary Artery	Congestive heart failure, Pulmonary edema, Atrial flutter, Reduced left ventricular ejection frac...	ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Williams Syndrome	Abnormal circulating lipid concentration, Chronic otitis media, Sensorineural hearing impairment,...	ORPHA:904
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Disinhibition, Abnormal social behavior	ORPHA:1020
Familial Dysautonomia	Orthostatic hypotension, Avascular necrosis, Scoliosis, Hypertension, Growth delay, Acrocyanosis,...	ORPHA:1764
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Nail dysplasia, Premature graying of hair, Nail dystrophy, Sparse hair, Fine hair	OMIM:612199
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Bardet-Biedl Syndrome 12	Obesity, Hypogonadism	OMIM:615989
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Sparse hair	OMIM:615508
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Short stature, Growth delay,...	OMIM:619522
Myasthenic Syndrome, Congenital, 21, Presynaptic	Respiratory insufficiency, Meconium ileus, Cyanosis, Knee flexion contracture	OMIM:617239
Sweet Syndrome	Panniculitis, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chro...	ORPHA:3243
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Precocious puberty, Motor stereotypy, Sparse hair, Cryptorchidism	OMIM:616682
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,...	OMIM:150400
Agel Amyloidosis	Hearing impairment, Nail dystrophy, Sparse hair	ORPHA:85448
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Aortic Arch Interruption	Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao...	ORPHA:2299
Monosomy 18Q	Secondary growth hormone deficiency, Decreased circulating IgA level, Bilateral cryptorchidism	ORPHA:1600
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Narrow mouth, Respiratory distress	OMIM:614748
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Broad nail, Sparse hair	OMIM:614099
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Obesity, Optic disc pallor, Inguinal hernia	OMIM:614947
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Increased HDL cholesterol concentration, Myeloproliferative disorder, Elevated circulati...	ORPHA:70591
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Aplasia of the sweat glands, Sparse scalp hair, Sparse hair	OMIM:612132
Chronic Graft Versus Host Disease	Pleural effusion, Ascites, Xerostomia	ORPHA:99921
Q Fever	Anorexia, Respiratory distress	ORPHA:781
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Sparse hair	OMIM:118650
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Neurocutaneous Melanocytosis	Death in infancy, Intracranial hemorrhage, Meningocele	ORPHA:2481
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Tropical Endomyocardial Fibrosis	Hepatomegaly, Ascites, Splenomegaly, Peripheral edema, Pedal edema	ORPHA:75565
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Nocardiosis	Respiratory failure, Pleural effusion, Pericarditis	ORPHA:31204
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
6Q Terminal Deletion Syndrome	Hypsarrhythmia, Failure to thrive, Obesity, Low-set, posteriorly rotated ears	ORPHA:75857
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, ...	OMIM:249100
Joubert Syndrome 6	Motor stereotypy	OMIM:610688
Ectodermal Dysplasia-Skin Fragility Syndrome	Nail dystrophy, Anoperineal fistula, Failure to thrive, Sparse hair, Alopecia universalis	ORPHA:158668
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Joint contracture of the hand, Elevated circulating creatine kinase concentration...	OMIM:309000
Retinoblastoma	Cleft palate	OMIM:180200
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Elbow flexion contracture, Enamel hypoplasia, Dysphagia, Motor stereotyp...	OMIM:619777
Postinfectious Vasculitis	Ischemic stroke, Palpable purpura, Arthritis, Hypertension, Cardiomyopathy, Vasculitis in the ski...	ORPHA:48435
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Bone pain, Dehydration, Intermittent claudic...	OMIM:259900
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Increased body weight, Thrombocytopenia, Mic...	ORPHA:244242
Cystinosis, Nephropathic	Polydipsia, Male infertility, Hypopigmentation of hair, Hypopigmentation of the skin, Failure to ...	OMIM:219800
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Niemann-Pick Disease, Type C1	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:257220
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:79138
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Sensorineural hearing impairment, Iris hypopigmentation, Cryptorchidism...	ORPHA:2719
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai...	ORPHA:2273
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Cyanosis, Polysplenia	OMIM:616749
Developmental And Epileptic Encephalopathy 2	Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy	OMIM:300672
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Hernia, Macroorchidism, Neutropenia	OMIM:208400
Johanson-Blizzard Syndrome	Hepatomegaly, Hypoplastic nipples, Ascites, Generalized edema, Splenomegaly, Anasarca, Cryptorchi...	OMIM:243800
Nmda Receptor Encephalitis	Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ...	ORPHA:217253
Retinitis Pigmentosa 74	Obesity, Optic disc pallor	OMIM:616562
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Right-to-left shunt, Lip telangiectasia, Spontaneous, rec...	OMIM:610655
Double Outlet Left Ventricle	Orofacial cleft, Cyanosis, Abnormal right ventricular function, Systolic heart murmur, Cryptorchi...	ORPHA:3427
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intermittent diarrhea, Respiratory distress, Intestinal malrotation, Exocrine pancreatic insuffic...	ORPHA:2255
D-Bifunctional Protein Deficiency	Hepatomegaly, Polyhydramnios, Bile duct proliferation, Splenomegaly, Fetal ascites	OMIM:261515
Tako-Tsubo Cardiomyopathy	Mildly elevated creatine kinase, Obesity, Abnormal circulating B-type natriuretic peptide concent...	ORPHA:66529
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Meconium ileus, Nasal polyposis, Ileus	OMIM:219700
Unilateral Polymicrogyria	Infantile sensorineural hearing impairment, Cyanosis, Epistaxis	ORPHA:268943
Leptospirosis	Anorexia, Respiratory distress, Diarrhea, Abdominal pain, Nausea and vomiting	ORPHA:509
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Left ventricular outflow tract obstruction, Pulmonary arterial hyperten...	ORPHA:99050
Multicystic Dysplastic Kidney	Abdominal distention	ORPHA:1851
Wrinkly Skin Syndrome	Low-set ears, Failure to thrive, Short nail, Fragile nails, Sparse hair, Cryptorchidism	OMIM:278250
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Congenital Total Pulmonary Venous Return Anomaly	Respiratory failure requiring assisted ventilation, Low 1-minute APGAR score, Low 5-minute APGAR ...	ORPHA:99125
Cystic Fibrosis	Steatorrhea, Meconium ileus, Rectal prolapse, Nasal polyposis	ORPHA:586
Scimitar Syndrome	Respiratory distress	ORPHA:185
Isolated Posterior Meningocele	Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Absent Achille...	ORPHA:268810
Leprosy	Loss of eyelashes, Absent eyebrow, Sparse body hair, Testicular mass, Alopecia	ORPHA:548
Wrinkly Skin Syndrome	Failure to thrive, Cryptorchidism, Low-set ears, Sparse hair	ORPHA:2834
Sarcoidosis	Abnormal nasal mucosa morphology, Parotitis, Facial palsy, Enlargement of parotid gland	ORPHA:797
Knobloch Syndrome 1	Occipital encephalocele, Spina bifida occulta, Pyloric stenosis, Occipital meningocele, Joint hyp...	OMIM:267750
Lumbar Syndrome	Ectopic anus, Myelomeningocele, Anal atresia, Spina bifida, Cryptorchidism	ORPHA:83628
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Goodpasture Syndrome	Pulmonary hemorrhage, Anemia, Cyanosis	OMIM:233450
Exstrophy-Epispadias Complex	Anal stenosis, Hydrocephalus, Anal atresia, Spina bifida, Abnormal joint morphology, Cryptorchidism	ORPHA:322
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, ...	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zeb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zeb1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Stabilized epithelial phenotype of cancer cells in primary tumors leads to increased colonization of liver metastasis in pancreatic cancer.	Cell reports (April 2021)	Zeb1^tm1Rkl	PMC8078733

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Zeb1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Zeb1^{tm461687(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zeb1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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