Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
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Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy |
OMIM:615523 |
Corneal Degeneration, Band-Shaped Spheroid |
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Corneal degeneration |
OMIM:217520 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating total IgM, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Deafness, Autosomal Recessive 109 |
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Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Corneal Dystrophy, Subepithelial Mucinous |
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Corneal dystrophy |
OMIM:612867 |
Immunodeficiency 24 |
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Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency 105 |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619924 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Lymphoproliferative Syndrome 3 |
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Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Agammaglobulinemia 2, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Immunodeficiency 18 |
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Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Familial Median Cleft Of The Upper And Lower Lips |
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Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Peters Anomaly |
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Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Immunodeficiency, Common Variable, 3 |
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Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
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Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Iris Pigment Epithelium Anomalies |
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Iris cyst |
OMIM:601616 |
Agammaglobulinemia 8A, Autosomal Dominant |
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Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Central Cloudy Dystrophy Of Francois |
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Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Cleft Lip With Or Without Cleft Palate |
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Recurrent otitis media, Feeding difficulties, Submucous cleft of soft and hard palate, Non-midlin... |
ORPHA:1991 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Lymphoma, Hodgkin, Classic |
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Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Caspase 8 Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Oligodontia, Abnormality of the inner ear |
ORPHA:3230 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Pupillary Membrane, Persistence Of |
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Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Immunodeficiency, Common Variable, 14 |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 14B, Autosomal Recessive |
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Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Corneal Dystrophy, Lattice Type I |
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Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Deafness, Autosomal Dominant 80 |
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Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Otopalatodigital Syndrome, Type Ii |
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Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... |
OMIM:304120 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Temporomandibular joint ankylosis, Feeding difficulties, Cleft palate, Aspi... |
ORPHA:141152 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Rhizomeli... |
OMIM:108720 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency, Common Variable, 1 |
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Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Schneckenbecken Dysplasia |
|
Cleft palate, Platyspondyly, Nonimmune hydrops fetalis, Short nose, Ovoid vertebral bodies, Umbil... |
OMIM:269250 |
Platyspondylic Dysplasia, Torrance Type |
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Cleft palate, Depressed nasal bridge, Platyspondyly, Micromelia, Hypoplasia of the capital femora... |
ORPHA:85166 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Corneal Dystrophy, Avellino Type |
|
Lattice corneal dystrophy |
OMIM:607541 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
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Cleft upper lip, Cleft palate |
OMIM:106250 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
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Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 1 |
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Cleft upper lip, Cleft palate |
OMIM:119530 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
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Convex nasal ridge, Cleft ala nasi, Non-midline cleft lip, Underdeveloped nasal alae, Wide nasal ... |
ORPHA:2007 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Platyspondyly, Rhizomelia, Short... |
OMIM:228520 |
Multiple Epiphyseal Dysplasia Type 4 |
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High palate, Abnormal pinna morphology, Short metacarpal, Accelerated skeletal maturation, Cleft ... |
ORPHA:93307 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Cleft pala... |
OMIM:108721 |
Mesomelia-Synostoses Syndrome |
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Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... |
ORPHA:2496 |
Immunoerythromyeloid Hypoplasia |
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Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Delaye... |
OMIM:210720 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Platyspondy... |
ORPHA:1427 |
Femoral-Facial Syndrome |
|
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Sprengel anoma... |
ORPHA:1988 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Facial cleft, Cleft palate |
OMIM:600251 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Feeding difficulties in infancy, Upper airway obstructi... |
OMIM:261800 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Broad nasal... |
OMIM:239800 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping shoulders, Delay... |
ORPHA:1452 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Platyspondyly, Rhizomelia, Severe platyspondyly, Ovoid vertebral bodies, Metaphys... |
OMIM:608940 |
Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, G... |
OMIM:619636 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delay... |
OMIM:311300 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Kniest Dysplasia |
|
Enlarged joints, Respiratory distress, Pectus excavatum, Cleft palate, Depressed nasal bridge, Pl... |
OMIM:156550 |
Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Prominence of the premaxilla, Broad nasal tip, Long philtrum, Deep p... |
OMIM:137550 |
Telecanthus |
|
Bilateral cleft lip and palate, Anodontia |
OMIM:187350 |
Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl... |
OMIM:224300 |
Congenital Laryngomalacia |
|
Cleft palate, Non-midline cleft lip |
ORPHA:2373 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Otopalatodigital Syndrome Type 1 |
|
Cleft palate, Depressed nasal bridge, Sandal gap, Bowing of the long bones, Elbow dislocation, Sh... |
ORPHA:90650 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Overfolded helix, Femoral bowing, ... |
OMIM:600920 |
Palant Cleft Palate Syndrome |
|
Bulbous nose, Exaggerated cupid's bow, Cleft palate |
OMIM:260150 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Femoral ... |
ORPHA:440354 |
Cleft Velum |
|
Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Hypo... |
ORPHA:99772 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... |
ORPHA:3035 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... |
OMIM:186500 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions |
OMIM:122450 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Accelerated skeletal maturation, Malar flattening, Short r... |
OMIM:215045 |
Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Depressed nasal bridge, Single transverse palmar crease, Short nose, S... |
OMIM:206920 |
Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal finger flexion c... |
OMIM:260660 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Pectus excavatum, Triangular mouth, Hypoplastic sacrum, Hypoplasia o... |
OMIM:268310 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
X-Linked Intellectual Disability, Abidi Type |
|
Protruding ear, Cleft palate, Non-midline cleft lip, Hearing impairment, Prominent nasal bridge |
ORPHA:85273 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Cariou... |
OMIM:277440 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... |
OMIM:264700 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Abnormal nasal morphology, Low-set, posteriorly rotated ears, Bilateral cleft lip a... |
ORPHA:1104 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge, Barrel-shape... |
OMIM:215140 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... |
OMIM:305620 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Respiratory distress, Apnea, Clef... |
OMIM:114290 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Abnormal thora... |
OMIM:164900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Severe short stature, Thickened nuchal skin fold, Micrognathia... |
ORPHA:93298 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Miscarriage, Cleft palate, Micromelia, Anisospondyly, Pterygium, Encephalocele, Sh... |
ORPHA:1865 |
Tarp Syndrome |
|
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... |
OMIM:311900 |
Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Microm... |
OMIM:200600 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Osteopenia, Platyspondyly, Short nose, Intrauterine growth retardation, Thoracic hy... |
OMIM:616897 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Conductive hearing impairment, Talipes equinov... |
OMIM:602471 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... |
ORPHA:93299 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t... |
ORPHA:93314 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Sensorineural hearing impairment, Cleft palate |
OMIM:223200 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Lymphadeno... |
OMIM:619802 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Ophthalmomandibulomelic Dysplasia |
|
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Syno... |
ORPHA:2741 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Disproport... |
OMIM:259420 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Pursed lips, Femoral bowing, Ulnar deviation of finger, Single transverse... |
OMIM:601559 |
Perching Syndrome |
|
High palate, Dysphagia, Respiratory distress, Feeding difficulties |
OMIM:617055 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Abnormality of the dentition, Micrognathia, Abnormality of the nose, Facial cleft, ... |
ORPHA:1794 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Constipation, Feeding difficulties, Depressed nasal bridge, Micrognath... |
OMIM:617616 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Convex nasal ridge... |
OMIM:166210 |
Renal Dysplasia-Limb Defects Syndrome |
|
High palate, Respiratory distress, Abnormal pinna morphology, Short sternum, Hypoplasia of the ra... |
OMIM:266910 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... |
ORPHA:1106 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Abnormality of the dentition, Scoliosis, Pectus ca... |
ORPHA:3268 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Vertebral wedging, Postaxial polydactyly, Short... |
OMIM:617866 |
Orofacial Cleft 13 |
|
Malar flattening, Retrognathia, Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... |
ORPHA:96334 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... |
ORPHA:958 |
Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda... |
OMIM:154780 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Abnormal pinna morphology, Anencephaly, Lobulated tongue, Median cleft lip and pal... |
OMIM:269860 |
Osteoglophonic Dysplasia |
|
High palate, Respiratory distress, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Platy... |
OMIM:166250 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:276 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Kyphomelic Dysplasia |
|
Cleft palate, Femoral bowing, Depressed nasal bridge, Platyspondyly, Micromelia, Pterygium, Dumbb... |
OMIM:211350 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Broad nasal tip, Oral cleft |
ORPHA:85287 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Abdominal distention, Cleft palate, Depressed nasal ridge, Short nose, Low-set ears |
OMIM:613885 |
Shox-Related Short Stature |
|
Forearm undergrowth, High palate, Tibial bowing, Short stature, Micrognathia, Scoliosis, Genu val... |
ORPHA:314795 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:613501 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus, Champagne cork sign, Femoral bowing, Platyspondyly, Hypoplastic pelvis, Severe pla... |
OMIM:187600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Bowin... |
ORPHA:90652 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Depressed nasal ridge, Choanal atresia, Facia... |
OMIM:607597 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating total IgM, B lymphocyt... |
OMIM:301081 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Cleft palate, Femoral bowing, Depressed nasal bridge, 11 pair... |
ORPHA:140 |
Achondrogenesis, Type Ib |
|
Narrow chest, Neonatal short-limb short stature, Malar flattening, Short ribs, Hypoplastic ilia, ... |
OMIM:600972 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Frontonasal Dysplasia 3 |
|
Cleft palate, Low-set, posteriorly rotated ears, Facial cleft, Underdeveloped nasal alae, Wide na... |
OMIM:613456 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Cleft palate, Abnormally os... |
ORPHA:1512 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Otofacioosseous-Gonadal Syndrome |
|
Narrow chest, Carpal synostosis, Low-set ears, Pectus excavatum, Talipes equinovarus, Sensorineur... |
OMIM:601976 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones... |
ORPHA:1505 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Boomerang Dysplasia |
|
Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of... |
ORPHA:1263 |
Cleidocranial Dysplasia 1 |
|
High palate, Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Cleft pala... |
OMIM:119600 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Respiratory failure, Intrauterine growth retardation, Premature birth, Congestive... |
OMIM:301021 |
Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Nemaline Myopathy 9 |
|
High palate, Micrognathia, Cleft palate |
OMIM:615731 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pa... |
OMIM:271640 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... |
OMIM:618534 |
Fibrochondrogenesis |
|
Cleft palate, Depressed nasal bridge, Micromelia, Broad ribs, Abnormal metaphysis morphology, Sho... |
ORPHA:2021 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Apnea, Pectus excavatum, Short sternum, Cleft palate, Single trans... |
ORPHA:2886 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Low-set ears, Talipes equinovarus, Hand clenching, Areflexia of lower limb... |
OMIM:611890 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
High palate, Tricuspid stenosis, Barrel-shaped chest, Hypoplasia of the capital femoral epiphysis... |
OMIM:143095 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:181393 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... |
ORPHA:2879 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Abnormal pinna morphology, Talipes equinovarus, Flexion contracture, Micrognathia, Over... |
OMIM:618291 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
Cartilage-Hair Hypoplasia |
|
Accelerated skeletal maturation, Depressed nasal ridge, Abnormally ossified vertebrae, Depressed ... |
ORPHA:175 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromel... |
OMIM:184260 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Stenosis of the external auditory canal, Retrognathia, Micrognathia, Bilateral cond... |
OMIM:615706 |
Hydrocephalus With Associated Malformations |
|
Tibial bowing, Hydrocephalus, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal f... |
OMIM:236640 |
Gonadal dysgenesis, xy type, with associated anomalies |
|
Cleft upper lip, Short columella, Oral cleft |
OMIM:233430 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:1836 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cleft palate, Overfolded helix, Depressed nasal bridge, Micromelia,... |
ORPHA:628 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Momo Syndrome |
|
High palate, Dental malocclusion, Thick upper lip vermilion, Abnormal bone ossification, Short st... |
ORPHA:2563 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Gingival overgrowth, Retrognathia, Micrognathia, Gingival fibromatosis, Med... |
ORPHA:1832 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Abnormality of the ear, Facial cleft, Macrotia |
OMIM:600776 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... |
OMIM:614878 |
Anencephaly 2 |
|
Median cleft palate, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
High palate, Slender finger, Cleft palate, Osteopenia, Abnormality of the dentition, Short philtr... |
ORPHA:251028 |
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:601420 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Thin... |
ORPHA:2015 |
Marshall-Smith Syndrome |
|
High palate, Apnea, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fin... |
OMIM:602535 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis, Micrognathia, Upper airway obstruction, Neonatal respiratory distress |
ORPHA:718 |
Waardenburg Syndrome, Type 3 |
|
Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Joint contracture... |
OMIM:148820 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... |
OMIM:274000 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Pectus excavatum, Craniosynostosis, Osteopenia, Depressed nasal bridge, Bullet-shaped... |
OMIM:252500 |
Burn-Mckeown Syndrome |
|
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Protruding ear, Cleft palate, Thin ... |
OMIM:608572 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Talon cusp, Cleft palate, Brachydactyly, Syndactyly, Microdontia, Radioulnar s... |
OMIM:605282 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal palate morphology, Narrow mouth, Depressed nasal ridge, Prominence of the premaxilla, Ma... |
ORPHA:2412 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... |
OMIM:249700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... |
ORPHA:289157 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Infantile Sialic Acid Storage Disease |
|
High palate, Metaphyseal irregularity, Hydrocephalus, Gingival overgrowth, Vacuolated lymphocytes... |
OMIM:269920 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Pursed lips, Cleft palate, Rocker bottom foot, Clinodactyly of the 5th finger, Talip... |
OMIM:619110 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Increased proportion of gamma... |
OMIM:619774 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Zechi-Ceide Syndrome |
|
Cleft upper lip, Cleft palate, Malar flattening, Stenosis of the external auditory canal, Oligodo... |
OMIM:612916 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depre... |
OMIM:311450 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Bulbous nose, Pectus excavatum, Short sternum, Supernumerary tooth, Bifid tongue, Bifid... |
OMIM:258850 |
Muenke Syndrome |
|
High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Sensorineur... |
OMIM:602849 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Calvarial hyperostosis, Scoliosis, Fibular bowing, Lateral femora... |
OMIM:112350 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Micromelia, Pectus carinatum, Short nose, Intrauterine growth retardation,... |
ORPHA:3121 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,... |
OMIM:265000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites, Intrauterine growth retardation, Increased... |
ORPHA:295 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Achondrogenesis |
|
Narrow chest, Severe short stature, Thickened nuchal skin fold, Micrognathia, Hydrops fetalis, Mi... |
ORPHA:932 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... |
OMIM:122470 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Diprosopus |
|
Abnormality of the nose, External ear malformation, Cleft palate, Non-midline cleft lip |
ORPHA:1681 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum... |
ORPHA:93316 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... |
ORPHA:957 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Hydrocephalus, Bulbous nose, Abnormal pinna morphology, Elbow anky... |
ORPHA:95699 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Cleft palate, Depressed nasal bridge, Platyspondyly, Micromeli... |
OMIM:256050 |
Hyperinsulinism Due To Glucokinase Deficiency |
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Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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High palate, Accelerated skeletal maturation, Cleft palate, Carious teeth, Genu valgum, Small epi... |
OMIM:618363 |
Sneddon Syndrome |
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Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Puerto Rican Infant Hypotonia Syndrome |
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High palate, Narrow palate, Constipation, Abdominal distention, Long philtrum, Open mouth, Chroni... |
OMIM:600096 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
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Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:2639 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Acromesomelic Dysplasia 2C |
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Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ... |
ORPHA:35078 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatomegaly, Sple... |
OMIM:616100 |
Akt2-Related Familial Partial Lipodystrophy |
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Hyperlipidemia, Decreased serum leptin, Hypertriglyceridemia, Lipodystrophy, Increased intraabdom... |
ORPHA:79085 |
Intellectual Disability, Wolff Type |
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Bulbous nose, Microretrognathia, Hypoplastic superior helix, Macrotia, Oral cleft, Non-midline cl... |
ORPHA:3080 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Depressed nasal bridge, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic ... |
OMIM:308050 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Kyphosis, Severe short stature, Abnormal morpholo... |
ORPHA:3344 |
Cerebrooculonasal Syndrome |
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High palate, U-Shaped upper lip vermilion, Abnormality of the nares, Long philtrum, Microdontia, ... |
ORPHA:66625 |
Deafness, Autosomal Dominant 77 |
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Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Van Der Woude Syndrome 1 |
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Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Autoinflammation With Infantile Enterocolitis |
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Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc... |
OMIM:616050 |
Chromosome 16P13.3 Duplication Syndrome |
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Short toe, Pectus excavatum, Bulbous nose, Protruding ear, Malar flattening, Pes cavus, Short pha... |
OMIM:613458 |
Temple Syndrome |
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High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short philtrum, Intrauterine gr... |
OMIM:616222 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Pectus excavatum, Cleft palate, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal r... |
OMIM:602196 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, T... |
ORPHA:2839 |
Osteogenesis Imperfecta, Type Viii |
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Femoral bowing, Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Platyspondyly,... |
OMIM:610915 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Depressed nasal bridge, Platyspondyly, Hyposegmentation of neutrophil nuclei, Bro... |
OMIM:618019 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
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High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere... |
OMIM:612350 |
Charlie M Syndrome |
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Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Macrotia, Non-... |
ORPHA:1406 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
Developmental And Epileptic Encephalopathy 96 |
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Neonatal respiratory distress, Hydrops fetalis, Death in infancy |
OMIM:619340 |
W Syndrome |
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Radial bowing, Broad nasal tip, Depressed nasal bridge, Pes cavus, Camptodactyly, Hypoplasia of t... |
ORPHA:2804 |
Corneal Dystrophy And Perceptive Deafness |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Spondylocarpotarsal Synostosis Syndrome |
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Cleft palate, Broad nasal tip, Pectus carinatum, Disproportionate short-trunk short stature, Shor... |
OMIM:272460 |
Morquio Syndrome C |
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Corneal opacity |
OMIM:252300 |
Ulbright-Hodes Syndrome |
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Aplasia/Hypoplasia of the ulna, High palate, Respiratory distress, Abnormal pinna morphology, Sho... |
ORPHA:3404 |
Lipodystrophy, Familial Partial, Type 1 |
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Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Recurrent fractures, Tibial bowing, Osteomyelitis, Micrognathia, Talipes equinovalgus, Congenital... |
ORPHA:453510 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Long thorax, Mesomelia, Abnormal... |
ORPHA:1277 |
Grant Syndrome |
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Micrognathia, Tibial bowing, Down-sloping shoulders, Wormian bones |
OMIM:138930 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Absence of lymph node... |
ORPHA:277 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hypere... |
OMIM:313420 |
Lipodystrophy, Familial Partial, Type 3 |
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Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Autosomal Recessive Spondylocostal Dysostosis |
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Cleft palate, Depressed nasal bridge, Umbilical hernia, Intrauterine growth retardation, Vertebra... |
ORPHA:2311 |
Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Cleft palate, Delayed erupt... |
OMIM:309350 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Florid Cemento-Osseous Dysplasia |
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Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Blomstrand Lethal Chondrodysplasia |
|
Accelerated skeletal maturation, Depressed nasal bridge, Platyspondyly, Rhizomelia, Abnormal epip... |
ORPHA:50945 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance |
ORPHA:2398 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Turnpenny-Fry Syndrome |
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High palate, Pectus excavatum, Short sternum, Abnormality of the dentition, Microdontia, Tapered ... |
OMIM:618371 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular... |
OMIM:226440 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Pfeiffer Syndrome |
|
High palate, Clinodactyly of the 5th finger, Short stature, Short philtrum, Synostosis of carpal ... |
ORPHA:710 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Aarskog-Scott Syndrome |
|
Pectus excavatum, Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Single t... |
ORPHA:915 |
Phenobarbital Embryopathy |
|
Malar flattening, Abnormal nasal base, Unilateral cleft lip, Mandibular prognathia, Low-set ears |
ORPHA:1919 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Short stature, Hy... |
ORPHA:93333 |
Roberts Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... |
ORPHA:3103 |
Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Oral cleft |
ORPHA:3434 |
Momo Syndrome |
|
High palate, Dental malocclusion, Taurodontia, Short sternum, Cutis marmorata, Long philtrum, Del... |
OMIM:157980 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion... |
OMIM:156510 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Down-sloping shoulders, Congenital hip dislocation, ... |
OMIM:114300 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... |
OMIM:141400 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Abnormal pinna morphology, Depressed nasal ridge, Intestinal m... |
ORPHA:77300 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Biconcav... |
ORPHA:93315 |
Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Depressed nasal bridg... |
ORPHA:1507 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Radioulnar synostosis, Elbow dislocation, Anterior vertebral fusion, Microtia, Short humerus, Sho... |
OMIM:171480 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hydrocephalus, Low-set ears, Thin ribs, Short stature, Depressed nasal ridge, Microgn... |
ORPHA:163966 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Type II diabetes mellitus, Short stature, Micrognathia, Respiratory insufficiency, Bila... |
ORPHA:3191 |
Acrorenal-Mandibular Syndrome |
|
High palate, Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplas... |
OMIM:200980 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... |
OMIM:225500 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Cleft palate, Everted lower lip vermilion, Micrognathia, Oral synechia |
ORPHA:2016 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares |
OMIM:615942 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, Depressed nasal bridge, Abnormali... |
ORPHA:1248 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, D... |
ORPHA:439822 |
Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Micrognathia, Cryptorchidism, Short sternum |
OMIM:184800 |
Schneckenbecken Dysplasia |
|
Accelerated skeletal maturation, Cleft palate, Micromelia, Abnormal metaphysis morphology, Dumbbe... |
ORPHA:3144 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu ... |
ORPHA:56304 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Short stature, Stenosis of the external auditory canal, Depressed ... |
ORPHA:1513 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Apert Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Dela... |
OMIM:101200 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, High palate, Thoracic scoliosis, Talipes equinovarus, Narrow palate, Adducted thumb... |
OMIM:617022 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosi... |
ORPHA:2790 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Carpal synostosis, Hydrocephalus, High, narrow palate, Malar fl... |
ORPHA:53271 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Triopia |
|
Median cleft lip, Cleft palate, Midline facial cleft |
ORPHA:3374 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Joint stiffness, Narrow mouth, Narrow palate, Abnormal hip bone mo... |
ORPHA:1323 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... |
ORPHA:3246 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Hydrocephalus, Neonatal short-limb short stature, Lumb... |
OMIM:100800 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Neutral Lipid Storage Disease With Myopathy |
|
Sensorineural hearing impairment, Hepatomegaly, Elevated circulating creatine kinase concentratio... |
OMIM:610717 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Rosselli-Gulienetti Syndrome |
|
Cleft upper lip, Anodontia, Abnormality of the ear, Hypodontia, Cleft palate, Microdontia, Abnorm... |
OMIM:225000 |
Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Vertebral segmentation defect, Clinodactyly o... |
ORPHA:1005 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Progeroid facial appearance, Slender long bones with narrow dia... |
OMIM:608154 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Trisomy 1Q |
|
Anal atresia, Hydrocephalus, Narrow mouth, Microretrognathia, Low-set ears, Cleft palate, Arachno... |
ORPHA:261344 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormal antihelix morphology, Hypodontia, Abnormality of the dentition, Advanced eruption of tee... |
ORPHA:952 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:311895 |
Pallister-Hall Syndrome |
|
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Depressed nasal bridge, Y-shap... |
OMIM:146510 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Sensorineural hearing impairment, Aplasia/Hypo... |
OMIM:611377 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Sensorineural hearing impairment, Clinodactyly of the 5th finger, Absent thum... |
OMIM:194350 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Bulbous nose, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsa... |
OMIM:215150 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Achondrogenesis, Type Ii |
|
Disproportionate short-limb short stature, Cleft palate, Short ribs, Barrel-shaped chest, Hydrops... |
OMIM:200610 |
Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... |
OMIM:614669 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Oral cleft, Mandibular prognathia, Widely-spaced maxillary central... |
OMIM:601349 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Hypoplastic nasal septum, Mi... |
ORPHA:40366 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... |
ORPHA:2990 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
Geroderma Osteodysplasticum |
|
Progeroid facial appearance, Femoral bowing, Osteopenia, Platyspondyly, Biconcave vertebral bodie... |
OMIM:231070 |
Osteolysis Syndrome, Recessive |
|
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Small epiphyses, Ovoid vertebral bodies, Epiphyseal dysplasia, Joint stiffness, Disp... |
OMIM:132400 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Apert Syndrome |
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Hydrocephalus, Ovarian neoplasm, Cleft palate, Depressed nasal bridge, Micromelia, Delayed erupti... |
ORPHA:87 |
Microphthalmia, Isolated, With Coloboma 4 |
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Microcornea |
OMIM:251505 |
Chylous Ascites |
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Neoplasm, Lymphedema, Ascites |
ORPHA:1160 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Wide mouth, Pectus excavatum, Short metacarpal, Depressed nasal bridge, Platyspondyly, Small epip... |
OMIM:611717 |
Cleft Lip-Retinopathy Syndrome |
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Non-midline cleft lip |
ORPHA:1995 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Vertebral segmen... |
OMIM:609813 |
Baller-Gerold Syndrome |
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High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit... |
OMIM:218600 |
Lethal Recessive Chondrodysplasia |
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Narrow chest, Respiratory distress, Accelerated skeletal maturation, Macroglossia, Micrognathia, ... |
ORPHA:1423 |
Genitopalatocardiac Syndrome |
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Cleft upper lip, Micrognathia, Low-set ears, Cleft palate |
OMIM:231060 |
Kyphomelic Dysplasia |
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Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Anterior rib cupping, Micromelia, Abn... |
ORPHA:1801 |
Frontofacionasal Dysplasia |
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Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip... |
ORPHA:1791 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Congenital Pulmonary Lymphangiectasia |
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Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... |
ORPHA:2414 |
Trisomy 13 |
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Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... |
ORPHA:3378 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
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High palate, Joint stiffness, Tibial bowing, Narrow mouth, Pursed lips, Flexion contracture, Abse... |
OMIM:245160 |
Immunodeficiency 84 |
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Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Lipodystrophy, Familial Partial, Type 6 |
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Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Cardiospondylocarpofacial Syndrome |
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Conductive hearing impairment, Severe short stature, Tooth malposition, High, narrow palate, Fail... |
ORPHA:3238 |
Trichorhinophalangeal Syndrome, Type Iii |
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Osteopenia, Coxa magna, Accelerated bone age after puberty, Delayed skeletal maturation, Long phi... |
OMIM:190351 |
Acromicric Dysplasia |
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Fifth metacarpal with ulnar notch, Narrow mouth, Severe short stature, Short metacarpal, Bulbous ... |
OMIM:102370 |
Lymphangiectasia, Intestinal |
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Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
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Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Mulibrey Nanism |
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