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Gene: Fos MGI:95574

Gene Summary

Name:

FBJ osteosarcoma oncogene

Synonyms:

cFos, c-fos, D12Rfj1

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
no spontaneous movement	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00
preweaning lethality, incomplete penetrance	Fos^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal facial morphology	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased lean body mass	Fos^em1(IMPC)Mbp	HET	Early adult	6.62×10^-05
increased total body fat amount	Fos^em1(IMPC)Mbp	HET	Early adult	2.28×10^-05
hemorrhage	Fos^em1(IMPC)Mbp	HOM	E18.5	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Fos 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 Fos (1 diseases)
Human diseases predicted to be associated with Fos (1535 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Generalized Lipodystrophy		Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in females, Bone cyst, Mandibul...	ORPHA:528

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

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri...	ORPHA:83451
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Torus palatinus, Thickened cortex of lo...	OMIM:607634
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An...	OMIM:259710
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth	OMIM:183300
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Anteverted nares, Choanal atresia, Multiple unerupted tee...	ORPHA:2645
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Flar...	OMIM:259700
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Trichodentoosseous Syndrome	Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Abnormal lymph node morphology, Sepsis, Leukocytosis, Hepato...	OMIM:612840
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi...	OMIM:166250
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth...	ORPHA:2204
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma...	OMIM:265900
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ...	OMIM:613495
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Mandibular p...	ORPHA:3416
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t...	ORPHA:564003
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Sclerosteosis	Diaphyseal undertubulation, Abnormality of the nose, Abnormal cortical bone morphology, Craniofac...	ORPHA:3152
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Sev...	ORPHA:73272
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Recurrent sinusitis, Conical tooth, Increased circulating IgG level, Decr...	ORPHA:98813
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ...	OMIM:242870
Desmosterolosis	Abnormality of the nose, Short nose, Osteopetrosis, Retrognathia, Increased bone mineral density,...	ORPHA:35107
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Short philtrum, Antevert...	ORPHA:217340
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Wide nasal bridge, Depr...	ORPHA:1522
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Spina bifida oc...	ORPHA:2780
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Long nose, Abnormal zygomatic bone morphology, Clinodactyly of t...	ORPHA:2769
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Dental crowding, High palate, Abnormal digit mor...	OMIM:300831
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Specific Granule Deficiency 2	Osteopenia, Amelogenesis imperfecta, Sepsis, Recurrent otitis media, Anemia, Sandal gap, Tooth ma...	OMIM:617475
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Talipes equinovarus, Increased circulating IgE level, Chronic mucocutaneous ...	OMIM:619752
Immunodeficiency 112	BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell...	OMIM:620449
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten...	ORPHA:2972
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Narrow mouth, Mi...	OMIM:619322
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,...	ORPHA:2063
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteopetrosis, Autosomal Recessive 9	Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture	OMIM:620366
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality...	ORPHA:210110
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bacterial infections, Partial ab...	OMIM:240500
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Dental mal...	OMIM:259730
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Bifid uvula, Symphalangism affecting the phalanges of the hand, Wide ...	ORPHA:2658
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Hip subluxation, Osteopetrosis, Anemia, Hypochromic microcytic anemia, Hepa...	OMIM:259720
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Long philtru...	OMIM:190351
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Decreased circulating IgG level, Abnormal tr...	OMIM:612301
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Eruption failure, Aplasia of the 1st metacarpal, Long philtrum, Partial absence ...	ORPHA:476126
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens...	OMIM:136300
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C...	OMIM:617514
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Dentinogenesis imperfecta, Osteoporosis, Delayed eruption of teeth	ORPHA:71267
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo...	ORPHA:53697
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl...	ORPHA:79106
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Immunodeficiency 38 With Basal Ganglia Calcification	BCGitis, Lymphadenopathy, Severe viral infection, Recurrent viral infections, Recurrent mycobacte...	OMIM:616126
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Decreased skull ossific...	ORPHA:2097
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Depressed nasal bridge, Splenomega...	OMIM:176920
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Synostosis of carpal bones, Tooth ma...	ORPHA:3238
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Anemia, Decreased circulating IgE, Short philtrum, Pancytopenia, Rec...	OMIM:619824
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Broad jaw	ORPHA:178377
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D...	OMIM:615198
Gorham-Stout Disease	Osteopenia, Mandibular pain, Abnormal bone ossification, Abnormal femur morphology, Abnormal ethm...	ORPHA:73
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Recurrent otitis media, Abnormal B cell morphology, Hypospadias, Recurre...	OMIM:616910
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp...	ORPHA:276
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal me...	ORPHA:1452
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi...	ORPHA:277
Pitt-Hopkins Syndrome	Hodgkin lymphoma, Wide mouth, Thickened helices, Aggressive behavior, Aganglionic megacolon, Shor...	ORPHA:2896
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Small for...	ORPHA:397590
Acrodysostosis	Abnormal female external genitalia morphology, Abnormal femur morphology, Short metacarpal, Hypog...	ORPHA:950
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p...	OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
48,Xxyy Syndrome	Chronic otitis media, Hypoplasia of penis, Taurodontia, Broad jaw, Azoospermia, Depression, Tremo...	ORPHA:10
Immunodeficiency 102	Severe varicella zoster infection, Aphthous ulcer, Recurrent sinusitis, Leukopenia, Increased pro...	OMIM:301082
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Short foot, Obesity, Short 5th finger, Clinodactyly, Macrodontia, Small ...	OMIM:300577
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Abnormal leukocyte mor...	ORPHA:1426
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly...	ORPHA:667
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Lowry-Maclean Syndrome	Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Thin vermilion border, Reduced bone mineral density, ...	ORPHA:2370
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, T l...	ORPHA:572
Myelolymphatic Insufficiency	Recurrent viral infections, Leukopenia, Recurrent bacterial infections, Hyposegmentation of neutr...	OMIM:310350
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr...	OMIM:612692
Zimmermann-Laband Syndrome	Supernumerary tooth, Hepatomegaly, Wide nose, Gingival fibromatosis, Anterior open-bite malocclus...	ORPHA:3473
Chung-Jansen Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Short philtrum,...	OMIM:617991
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Abnormali...	ORPHA:2501
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Torus palatinus, M...	OMIM:144750
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Failure to thrive, Recurrent respiratory infections, Recurrent bacterial ...	OMIM:616022
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Retrognathia, Recurrent candida infections, Recurrent infections, B lymphocytopenia, ...	OMIM:614069
Macrophage Activation Syndrome	Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Elevat...	ORPHA:158061
49,Xxxxy Syndrome	Chronic otitis media, Hypoplasia of penis, Excessive shyness, Hypogonadism, Small scrotum, Abnorm...	ORPHA:96264
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent bacterial infections, Increased circulating IgG level, B lymphocytopen...	OMIM:618048
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei...	OMIM:617306
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ...	ORPHA:90650
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612463
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Acrootoocular Syndrome	Wide nasal base, Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Short...	ORPHA:2980
Aredyld Syndrome	Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph...	ORPHA:1133
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Square pelvis bone, Retrognathia, Delayed eruption of...	ORPHA:166272
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurren...	ORPHA:397596
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Pycnodysostosis	Hypoplastic iliac wing, Acromelia, Mesomelia, Joint hypermobility, Delayed eruption of primary te...	ORPHA:763
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the...	ORPHA:3145
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Depre...	OMIM:122860
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo...	ORPHA:628
Mueller-Weiss Syndrome	Fragmented, irregular epiphyses, Abnormality of the os naviculare pedis, Knee osteoarthritis, Art...	ORPHA:566943
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Hyperactivity, Sensorineural hearing impairment, Dental crowding, Everted lower lip...	OMIM:618342
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Recurrent fr...	OMIM:277440
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Osteoporosis, Spleno...	ORPHA:100024
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular...	ORPHA:750
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Osseous Heteroplasia, Progressive	Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth	OMIM:166350
48,Xxxy Syndrome	Chronic otitis media, Hypoplasia of penis, Hypogonadism, Small scrotum, Abnormal epiphysis morpho...	ORPHA:96263
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Erlenmeyer flask deformity of the femu...	OMIM:618476
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Hypodontia, Short middle phal...	ORPHA:63442
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Short Stature-Wormian Bones-Dextrocardia Syndrome	Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph...	ORPHA:2863
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Elsahy-Waters Syndrome	Bifid nasal tip, Bifid scrotum, Bifid uvula, Broad philtrum, Long philtrum, Impacted tooth, Agene...	OMIM:211380
Weiss-Kruszka Syndrome	Short nose, Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger...	ORPHA:502430
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Generalized ...	ORPHA:53
Familial Expansile Osteolysis	Fragile teeth, Premature loss of teeth, Bowing of the long bones, Osteolysis, Pathologic fracture...	OMIM:174810
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis...	ORPHA:486
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Long philtrum, Coxa valga, Elbow flexion contracture, Camptodactyly, Osteopor...	OMIM:214150
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth	OMIM:619489
Bent Bone Dysplasia Syndrome 1	Clitoral hypertrophy, Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal crani...	OMIM:614592
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Wide anterior...	OMIM:619736
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Increased circulating IgG3 level, Hepatomeg...	OMIM:612783
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Cortical irregularity, Periosteal t...	ORPHA:1310
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Pancytopenia, Tooth malp...	ORPHA:2785
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac...	OMIM:619795
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Clinodactyly of the 2nd finger, Decreased specific antibody response to vaccination, Decreased ci...	ORPHA:221139
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hepatomegaly, Splenomegaly	OMIM:618541
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl...	OMIM:113300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Delayed er...	OMIM:612350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, Lymp...	ORPHA:331206
Coffin-Siris Syndrome 2	Sandal gap, Hyperactivity, Abnormal pinna morphology, Wide mouth, Long philtrum, Short distal pha...	OMIM:614607
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, I...	ORPHA:37748
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Acrocephalopolydactyly	Short nose, Short long bone, Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Brachyd...	ORPHA:221054
Aarskog-Scott Syndrome	Abnormal pinna morphology, Everted lower lip vermilion, Cognitive impairment, Umbilical hernia, L...	ORPHA:915
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender long bone, Recurrent bac...	OMIM:244460
Pierpont Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Broad philtrum, Short finger, Hearing impa...	OMIM:602342
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ...	OMIM:618987
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hepatomegaly, Delayed epiphyseal ossification, Delayed eruption of teeth, Osteomalacia, ...	ORPHA:289157
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Compulsive behaviors, Inflexible adherence to routines, Obesity, Failur...	OMIM:613670
Trisomy 9P	Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c...	ORPHA:236
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG2 level, Fa...	OMIM:102700
Whim Syndrome 1	Abnormal female external genitalia morphology, Recurrent bacterial infections, Decreased circulat...	OMIM:193670
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Recurren...	OMIM:615615
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Peroxisome Biogenesis Disorder 12A (Zellweger)	Sepsis, Abnormal cortical bone morphology, Cholelithiasis, Wide anterior fontanel, Decreased body...	OMIM:614886
Trichorhinophalangeal Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Long philtrum, Low-set, posteriorly rotated e...	ORPHA:502
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, Persistent CMV viremia,...	OMIM:616005
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ...	OMIM:614078
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o...	OMIM:618944
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c...	ORPHA:275
Immunodeficiency 62	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c...	OMIM:618459
Temple-Baraitser Syndrome	Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mouth, Long philtrum,...	ORPHA:420561
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Sponastrime Dysplasia	Short long bone, Short dental root, Microdontia, Aplasia of the nasal bone, Mesomelia, Metaphysea...	ORPHA:93357
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,...	OMIM:615513
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short nose, Abnormal bone ossification, Long philtrum, Abnormal femoral neck/head morphology, Inc...	ORPHA:163649
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Bony paranasal bossing, Broad alveolar ridges, Mandibular prognathia, Nasal co...	OMIM:218400
Immunodeficiency 48	Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu...	OMIM:269840
Hennekam Syndrome	Retrognathia, Tooth agenesis, Lymphangioma, Splenomegaly, Lymphopenia, Craniosynostosis, Short ph...	ORPHA:2136
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ...	ORPHA:2325
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Secondary hy...	OMIM:264700
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Wide nasal base, Delayed eruption of teeth, Anteverted nares, Dental crowding, High...	OMIM:616354
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Obesity...	OMIM:300310
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, Opportunistic infection...	ORPHA:83471
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Microdontia, Neutropenia, Hypoplasia of the ulna, ...	ORPHA:2909
Immunodeficiency 84	Perianal abscess, Persistent EBV viremia, B lymphocytopenia, Splenomegaly, Recurrent bacterial in...	OMIM:619437
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Recurrent bacterial skin infections, Chronic oral candidiasis, Failure to thrive, ...	ORPHA:911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Clubbing of fingers, Increased circulating IgG level, Re...	OMIM:618982
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Ollier Disease	Abnormal metaphysis morphology, Anemia, Micromelia, Precocious puberty, Joint stiffness, Abnormal...	ORPHA:296
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Gingival overgrowth, Narrow mouth, Protruding tongue, Joint...	OMIM:230600
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia...	ORPHA:1277
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Delayed ossification of carpal bones, Short dental root, Mesomelia, Metaphyseal irregularity, Gen...	OMIM:271510
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Thin vermilion border, Hypospadias, Craniosynostosis, Patent ductus arteriosus, Antev...	ORPHA:171839
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted nares, Cleft palate, Broad nasal t...	OMIM:272460
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased proportion of CD8-positive T cells, Abnormal natural ki...	OMIM:312863
Alazami-Yuan Syndrome	Long philtrum, Low hanging columella, Hyperactivity, Dental crowding, High palate, Narrow mouth, ...	OMIM:617126
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ...	ORPHA:137834
Acromicric Dysplasia	Short nose, Long philtrum, Abnormal femur morphology, Thick lower lip vermilion, Anteverted nares...	ORPHA:969
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g...	OMIM:608184
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Carpenter Syndrome 1	Flared iliac wing, Agenesis of permanent teeth, Duplication of the proximal phalanx of the hallux...	OMIM:201000
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem...	OMIM:616873
11Q22.2Q22.3 Microdeletion Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Abnormal social behavior, Low-set ears, Shor...	ORPHA:444002
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Hypospadias, Short metatarsal, Hyperactivity, Anteverted nares, Mandibular prognathia...	OMIM:614613
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Elevated circulating C-reactiv...	ORPHA:85435
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Congenital hypertrophy of retinal pigment epithelium, Odontoma,...	ORPHA:79665
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Narrow nasal bridge, Increased bone m...	ORPHA:1798
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Clitoral hypertrophy, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hy...	ORPHA:313855
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Hepatomegaly, Hypoplastic pubic bone, Abnormal epiphy...	ORPHA:2746
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Complete or near-complete absence of specific ant...	OMIM:613496
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Impaired ADP-induced platelet aggreg...	OMIM:608233
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, Anteverted nares, 2-3 toe s...	OMIM:616809
Non-Distal Duplication 10Q	Short nose, Low-set, posteriorly rotated ears, High palate, Everted lower lip vermilion, Cognitiv...	ORPHA:1695
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Macrocephaly/Autism Syndrome	Short nose, Long philtrum, Hepatomegaly, Recurrent otitis media, Large for gestational age, Recur...	OMIM:605309
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ...	OMIM:614372
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity,...	OMIM:231095
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Clubbing of fingers, Increased circulating...	OMIM:615767
Developmental And Epileptic Encephalopathy 73	Short nose, Irritability, Narrow nasal bridge, Sensorineural hearing impairment, Failure to thriv...	OMIM:618379
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Anteverted nares, Abnormal dental enam...	ORPHA:2107
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Hypodontia, Bilateral coxa valga, Tremor, Limb dystonia, Hearing impairment, Obesi...	OMIM:620270
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Genital ulcers, Hepatomegaly, Sepsis, Panhypogammaglobulinemia, Aplasia of the thymus, B...	OMIM:602450
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Gapo Syndrome	Short nose, Long philtrum, Thick lower lip vermilion, High, narrow palate, Hepatomegaly, Breast h...	OMIM:230740
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2026
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte...	ORPHA:2688
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Hypodontia, Decreased ...	OMIM:300636
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose, Long philtrum	OMIM:125700
Fraxe Intellectual Disability	Agitation, Clinodactyly of the 5th finger, Hyperactivity, Prominent ear helix, Recurrent hand fla...	ORPHA:100973
Chondrodysplasia, Blomstrand Type	Flared metaphysis, Generalized osteosclerosis, Short ribs, Micromelia, Micrognathia, Advanced tar...	OMIM:215045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,...	OMIM:601457
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Osteoporos...	OMIM:619718
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Subcut...	OMIM:103580
Catifa Syndrome	Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly, Cleft palate, Lo...	OMIM:618761
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Self-mutilation, Mandibular prognathia, Impulsivity, Failure to thrive, Micrognath...	OMIM:604317
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Hyperactivity, Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Aggressive behavior, Agita...	ORPHA:369891
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni...	OMIM:618986
Distal Duplication 18Q	Short nose, Abnormal female external genitalia morphology, Clinodactyly of the 5th finger, Low-se...	ORPHA:1716
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ...	ORPHA:261120
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Craniosynostosis, Delayed eruption of teeth, Recurrent infections, Recurrent fracture...	ORPHA:2314
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur...	OMIM:209920
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Clark-Baraitser Syndrome	Short nose, Long philtrum, Sandal gap, Low hanging columella, Hyperactivity, Anteverted nares, Sh...	OMIM:617752
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu...	ORPHA:540
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso...	OMIM:249710
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Anteverted nares, Abnormal den...	ORPHA:1458
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing impairmen...	ORPHA:353281
Infantile Systemic Hyalinosis	Osteopenia, Recurrent bacterial infections, Gingival overgrowth, Osteoporosis, Micromelia, Joint ...	ORPHA:2176
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient...	OMIM:619707
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cachexia, Leukocytos...	ORPHA:77297
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal palate morphology, Aggressive behavior, Abnormal fear-induced behavior, Abnormal digit m...	ORPHA:208441
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Long philtrum, Cone-shaped e...	ORPHA:439822
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Sinusitis, B...	ORPHA:811
Laron Syndrome	Hypoplasia of penis, Delayed eruption of teeth, Depressed nasal ridge, Microdontia, Tooth agenesi...	ORPHA:633
16P12.1P12.3 Triplication Syndrome	Retrognathia, Hyperactivity, Prominent fingertip pads, Wide mouth, Intrauterine growth retardatio...	ORPHA:485405
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Long nose, Limited elbow movement, Enlarged metaphyses, Short metac...	ORPHA:508533
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Recu...	OMIM:619281
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circulating interleukin...	ORPHA:70578
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Anteverted nares, Short long bone, Short ribs, Coarse metaphyseal trabecularization, ...	OMIM:618961
C Syndrome	Clitoral hypertrophy, Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide ...	OMIM:211750
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Cranial hyperostosis, Anteverte...	ORPHA:2710
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Long philtrum, Low hanging columella, Delayed eruption of teeth, Ante...	OMIM:618825
Mirage Syndrome	Rocker bottom foot, Sepsis, Radial club hand, Anemia, Hypospadias, Recurrent bacterial infections...	OMIM:617053
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ...	OMIM:190350
Camptodactyly Syndrome, Guadalajara Type 1	Microtia, Short distal phalanx of finger, Intrauterine growth retardation, Low-set, posteriorly r...	ORPHA:1327
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Mesomelic leg...	OMIM:300244
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t...	OMIM:614868
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, Polyhydramnios, Low-set ears, High palate, Camptodactyly, Prena...	OMIM:618393
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Rothmund-Thomson Syndrome, Type 2	Microdontia, Hypogonadism, Osteoporosis, Cryptorchidism, Short palm, Depressed nasal bridge, Smal...	OMIM:268400
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormal femur morphology, Abnormal diaphysis morphology, Anemia, Hepa...	ORPHA:1842
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short nose, Retrognathia, Recurrent lower respiratory tract infections, High palate, ...	OMIM:618005
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl...	OMIM:616941
Smith-Magenis Syndrome	Chronic otitis media, Delayed puberty, Decreased fetal movement, Delayed eruption of primary teet...	ORPHA:819
Prolidase Deficiency	Short nose, Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Hig...	OMIM:170100
Pycnodysostosis	Narrow palate, Increased bone mineral density, Absent frontal sinuses, Osteolytic defects of the ...	OMIM:265800
Familial Adenomatous Polyposis	Lipoma, Eruption failure, Congenital hypertrophy of retinal pigment epithelium, Odontoma, Pituita...	ORPHA:733
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Bulbous nose, Micrognathia, Deep philtrum, Thrombocytopenia, Ambi...	ORPHA:1237
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup...	OMIM:618506
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Absent paranasal sinuses, Clavicula...	OMIM:224300
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Camurati-Engelmann Disease	Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia,...	OMIM:131300
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Delayed eruption of teeth, Increased body weight, Congenital hip dislocation, Macroglossi...	OMIM:614450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Wide distal femoral metaphysis, Wide nose, Delayed epiphyseal ossification, Metaphyse...	OMIM:613320
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Long philtrum, Rhizomelia, Large for gestational ag...	OMIM:616638
Hallermann-Streiff Syndrome	Hyperactivity, Everted lower lip vermilion, Narrow nose, Narrow palate, Selective tooth agenesis,...	OMIM:234100
4H Leukodystrophy	Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Delayed er...	ORPHA:289494
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Broad thumb, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finge...	OMIM:616331
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Reduced bone mineral density, Narrow nasal ridge, Na...	ORPHA:740
Camurati-Engelmann Disease	Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Hypogonadism, Craniofacial osteosc...	ORPHA:1328
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Severe short stature, Umbilical hernia, Long philtrum, Anodont...	ORPHA:3107
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Wide anterior fontanel, Dental crowding, Mandibular p...	OMIM:269300
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Recurrent infections, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition	ORPHA:1264
Trichorhinophalangeal Syndrome Type 1	Long philtrum, Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper ...	ORPHA:77258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Decreased circulating IgA level, T lymphocytopenia, Sinusitis, Prot...	OMIM:242860
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarp...	ORPHA:221016
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Hypospadias, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depress...	ORPHA:1355
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:613179
Intellectual Developmental Disorder, X-Linked 109	Fetal distress, Agitation, Hyperactivity, Long upper lip, Recurrent hand flapping, Compulsive beh...	OMIM:309548
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, B lymphocytopenia, Increased circulating IgE level, Recurrent bacte...	ORPHA:217390
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Broad thumb, Leukopenia, Splenomegaly, Lymphopenia, Clinodacty...	OMIM:612541
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Anteverted nares, Clinodactyly, Micrognathia, ...	OMIM:618577
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Decreased response to growth hormone stimulation test, Congenital hypopara...	OMIM:241410
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Failure ...	OMIM:600081
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal optic disc morp...	ORPHA:363417
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612462
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Decreased response to growth hormone stimulation test, Hypospadias, Epiph...	OMIM:614732
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndact...	OMIM:617201
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Recurrent otitis me...	OMIM:307200
Intellectual Developmental Disorder, X-Linked 30	Short nose, Agitation, Hyperactivity, Anteverted nares, Prominent fingertip pads, High palate, Sh...	OMIM:300558
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microdontia, Lymphopenia, Craniosynostosis, Accessory spleen, Portal hypertension, Depressed nasa...	OMIM:620005
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Depressed nasal ridge,...	ORPHA:1248
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi...	OMIM:101800
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i...	OMIM:112350
Familial Adenomatous Polyposis 1	Eruption failure, Congenital hypertrophy of retinal pigment epithelium, Odontoma, Desmoid tumors,...	OMIM:175100
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Thin vermilion border, Hepatomegaly, Flared metaphysis, Delayed epi...	OMIM:602557
Mulibrey Nanism	Hepatomegaly, Recurrent lower respiratory tract infections, Wide nose, Absent frontal sinuses, De...	OMIM:253250
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Maxillonasal Dysplasia, Binder Type	Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co...	OMIM:155050
Perlman Syndrome	Short nose, Retrognathia, High, narrow palate, Abnormal pancreas morphology, Hypoplasia of penis,...	ORPHA:2849
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Small for gestational age, Joint contracture of the 5th finger, Hyperactivity, Ante...	ORPHA:352490
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Glossoptosis, Short metacarpal, Abnormally ossified vertebrae, Bifid u...	ORPHA:1427
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Head-banging, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdonti...	OMIM:619356
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P...	OMIM:252100
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Microtia, Everted lower lip vermilion, Microdontia, Wide mouth, Bruxism...	OMIM:156200
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Short nose, Abnormal palate morphology, Narrow mouth, Death in infancy, Short stat...	ORPHA:1495
Sweet Syndrome	Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Elevated circulating C...	ORPHA:3243
Achondrogenesis Type 1A	Short nose, Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micromelia, ...	ORPHA:93299
Chime Syndrome	Acute leukemia, Supernumerary tooth, Short philtrum, Hypodontia, Aplasia/Hypoplasia of the phalan...	ORPHA:3474
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E...	ORPHA:178320
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Hypoplasia of penis, Disproportio...	ORPHA:1507
Ohdo Syndrome	Short nose, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, Widely spaced t...	OMIM:249620
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short nose, Hypospadias, Flared metaphysis, Anteverted nares, Short ribs, Decreased s...	OMIM:616897
Gapo Syndrome	Everted lower lip vermilion, Hypogonadism, Umbilical hernia, Long philtrum, Optic atrophy, Anteve...	ORPHA:2067
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Hyperactivity, Bifid scrotum, Overlapping toe, Aggressive behavior, Penoscrotal tran...	OMIM:619148
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Recurrent respiratory infections, Decreased circulating IgG level, T lymphocyt...	OMIM:233650
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder morphology, Abnormal metacarp...	ORPHA:1350
Nance-Horan Syndrome	Supernumerary tooth, Retinal detachment, Mandibular prognathia, Short metacarpal, Abnormality of ...	ORPHA:627
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh...	OMIM:256050
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology...	ORPHA:2631
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Small earlobe, Everted lower lip vermilion, Intraut...	ORPHA:364577
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Short metacarpal, Everted lower lip vermilion, Wide mouth, Shor...	ORPHA:192
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Limitatio...	ORPHA:177
Hallermann-Streiff Syndrome	Abdominal situs inversus, Supernumerary tooth, High, narrow palate, Reduced bone mineral density,...	ORPHA:2108
Achondrogenesis Type 1B	Short nose, Anteverted nares, Abnormal enchondral ossification, Micromelia, Micrognathia, Long ph...	ORPHA:93298
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Potocki-Shaffer Syndrome	Short nose, Short philtrum, 2-5 finger cutaneous syndactyly, Downturned corners of mouth, Multipl...	OMIM:601224
Foxp1 Syndrome	Short nose, Abnormality of the ear, Hypoplastic helices, Recurrent otitis media, Retrognathia, Ma...	ORPHA:391372
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Lethal Osteosclerotic Bone Dysplasia	Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Low-set e...	ORPHA:1832
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Low-set...	ORPHA:2701
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi...	ORPHA:1525
Chromosome 3Q29 Deletion Syndrome	Clinodactyly of the 5th finger, Short philtrum, Hyperactivity, Low-set ears, Macrotia, Long finge...	OMIM:609425
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Short nose, Postnatal growth retardation, Slender nose, Low-set ears, Macrotia, Mi...	OMIM:615419
Pachydermoperiostosis	Hepatomegaly, Anemia, Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility,...	ORPHA:2796
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, Nasal polyposis, T lymphocytopenia, Decreased proporti...	OMIM:615518
Blomstrand Lethal Chondrodysplasia	Short nose, Long philtrum, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Anteverted nares, ...	ORPHA:50945
Cri-Du-Chat Syndrome	Hyperactivity, Abnormal pinna morphology, Short metacarpal, Bifid uvula, Syndactyly, Aggressive b...	OMIM:123450
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema...	OMIM:146300
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Sandal gap, Hyperactivity, Abnormal pinna morphology, Wide mouth, Hypogonadism, ...	OMIM:300354
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Finger synd...	ORPHA:1787
Fetal Hydantoin Syndrome	Short nose, Hearing abnormality, Triphalangeal thumb, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:1912
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Recurrent lower respiratory tract infections, Delayed eruption of teeth, B lymphocytopeni...	ORPHA:508542
Teebi Hypertelorism Syndrome 1	Short nose, Small hand, Anteverted nares, Dental crowding, Bicornuate uterus, Coronal craniosynos...	OMIM:145420
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Attention deficit hyperactivity disorder, Syndactyly...	OMIM:305400
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Everted lower lip vermilion, Death in infancy, Testicular t...	ORPHA:800
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Non-Distal Duplication 13Q	Short nose, Thin vermilion border, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol...	ORPHA:1702
12Q14 Microdeletion Syndrome	Abnormal nostril morphology, Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilos...	ORPHA:94063
Lead Poisoning	Delayed puberty, Miscarriage, Cognitive impairment, Premature birth, Imbalanced hemoglobin synthe...	ORPHA:330015
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Diaphyseal sclerosis, Increased bone miner...	ORPHA:94089
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Abnormality of the dentition, Generalized osteoporosis,...	OMIM:617952
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de...	ORPHA:1782
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Long nose, Hypoplasia of the primary teeth, Dental crowding, Long p...	OMIM:257850
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Ulnar deviated club hands, Arthralgia of ...	ORPHA:166002
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Self-mutilation, Dental crowding, Tibial bowing, Microdontia, Agene...	ORPHA:251028
Marshall-Smith Syndrome	Short nose, Retrognathia, Reduced bone mineral density, Slender long bone, Anteverted nares, Ging...	ORPHA:561
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Ovarian cyst, Pathologic fracture, Oste...	ORPHA:249
Autosomal Dominant Omodysplasia	Short nose, Ambiguous genitalia, Rhizomelia, Hypoplasia of penis, Bifid scrotum, Short palm, Micr...	ORPHA:93328
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Increased circulating IgA level, Bilateral cryptorchidism, Eclabion, Cariou...	OMIM:616395
X-Linked Intellectual Disability, Van Esch Type	Retrognathia, Retractile testis, Clinodactyly of the 5th finger, Microtia, Hypergonadotropic hypo...	ORPHA:163976
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Mesoaxial foot polydactyly, Sym...	ORPHA:46627
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus	ORPHA:99811
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla...	ORPHA:93296
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni...	OMIM:614470
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ...	OMIM:200990
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Retrognathia, Hyperactivity, Abnormal pinna morphology, Tremor, Bifid nasal tip, H...	OMIM:300983
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Recurrent otitis media, Anteverted nares, Low-set ears, Glossoptosis, Camptodactyly, ...	OMIM:613604
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Gm1 Gangliosidosis	Joint stiffness, Splenomegaly, Long philtrum, Abnormal epiphysis morphology, Failure to thrive, C...	ORPHA:354
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing...	OMIM:241530
Osteogenesis Imperfecta, Type Xiii	Long philtrum, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, ...	OMIM:614856
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Spina...	ORPHA:949
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Hypoplasia of penis, Intrauterine growth retardation, Cognitive impairment, Growth de...	ORPHA:2083
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Emanuel Syndrome	Breech presentation, Dental crowding, Severe hearing impairment, Bifid uvula, Premature birth, Dy...	ORPHA:96170
Momo Syndrome	Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Wide nasal base...	ORPHA:2563
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Hypogonadism, Genu varum, Neutrop...	ORPHA:221008
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma, Postaxial ...	OMIM:241800
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Solitary median maxillary central incisor, Bifid scrotum, Intrauterine growth retar...	OMIM:613026
Coffin-Siris Syndrome 3	Long philtrum, Wide nose, Recurrent infections, Anteverted nares, High palate, Cleft palate, Wide...	OMIM:614608
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Recurre...	OMIM:618969
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Intrauterine growth retardation, Coxa valga, Aggressive behavior, Optic atrophy, Irritability, Ex...	OMIM:619833
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Tooth agenesis, Coxa valga, Small epiphyses, Hearing impairment, Short stature, ...	OMIM:618363
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Abnormal natural kil...	OMIM:615966
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Proximal placement of thumb, Hypoplasia of penis, Sensorineural hearing imp...	ORPHA:818
Vici Syndrome	Everted upper lip vermilion, T lymphocytopenia, Leukopenia, Abnormal thymus morphology, Lymphopen...	OMIM:242840
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sensorineural hearing impairment, Septo-optic dysplasia, Epistaxis, Wide mouth, Mild fetal ventri...	OMIM:619841
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Single naris, Hypoplasia of penis, Hyposmia, Tooth malposition, Anos...	ORPHA:2250
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Decreased skull ossification, Short metacarpal, Multip...	OMIM:215140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing im...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Sensorineural hearing im...	ORPHA:353277
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Thin upper lip vermilion	ORPHA:2512
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short nose, Clinodactyly of the 5th finger, 11 pairs of ribs, Spina bifida occulta, S...	OMIM:617877
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
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia...	OMIM:300863
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr...	OMIM:616452
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, Lymphadenopathy, Recurrent ...	OMIM:150550
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Achondrogenesis	Short nose, Abnormality of bone mineral density, Anteverted nares, Abnormal enchondral ossificati...	ORPHA:932
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Sepsis, Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Throm...	ORPHA:169090
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Anterior hypopituitarism, Delayed eruption of teeth, Everted lower l...	ORPHA:181
Ruvalcaba Syndrome	Delayed puberty, Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Proximal plac...	ORPHA:3121
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Thyroid carcinoma, Intestinal polyposis, Hurthle cell thyroid adenoma, Preaxial hand ...	ORPHA:210548
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Finger syndactyly, Split hand, Micromelia, Micrognathia, Cleft pala...	ORPHA:2145
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Overlapping toe, Narrow palate, Failure to thrive, Neutrophilia, Recurrent ...	ORPHA:99843
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Abnormally ossified vert...	ORPHA:175
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Short nose, Retrognathia, Orofacial cleft, Anteverted nares, Sensor...	OMIM:243310
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Long philtrum, Clinod...	ORPHA:2616
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Supernumerary tooth, Anteverted nares, Ell...	ORPHA:86818
Seckel Syndrome 1	Clitoral hypertrophy, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated ...	OMIM:210600
Three M Syndrome 2	Small for gestational age, Slender long bone, Delayed eruption of teeth, Anteverted nares, Promin...	OMIM:612921
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Short long bone, Hypospadias...	ORPHA:79324
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic...	OMIM:613848
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed puberty, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Depressed nasal rid...	ORPHA:1816
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Short philtrum, Recurrent bacterial infections, Thrombocytope...	OMIM:603585
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Aspartylglucosaminuria	Short nose, Hepatomegaly, Abnormal cortical bone morphology, Arthritis, Gingival overgrowth, Mand...	ORPHA:93
Dubowitz Syndrome	Abnormal female external genitalia morphology, Sandal gap, Broad thumb, Wide mouth, Abnormality o...	ORPHA:235
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Wide nose, Hypoplasia of penis, Low-set ears, High pa...	ORPHA:217385
Recon Progeroid Syndrome	Thin vermilion border, Anemia, Proximal placement of thumb, Recurrent infections, Narrow nasal ri...	OMIM:620370
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Dental crowding, Underdeveloped nasal alae, Short meta...	OMIM:180870
Diastrophic Dysplasia	Neonatal short-limb short stature, Short finger, Genu valgum, Irregular epiphyses, Cystic lesions...	OMIM:222600
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Hyperactivity, Narrow nasal ridge, Congenital finger flexion contractures, Im...	ORPHA:363528
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Hypoplastic iliac wing, Narrow palate, Oligodontia, Camptodactyly, Short palm, Mala...	OMIM:235510
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co...	OMIM:619638
Kleefstra Syndrome 1	Hypospadias, Anteverted nares, Abnormal pinna morphology, Macroglossia, Mandibular prognathia, Co...	OMIM:610253
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Flexi...	OMIM:193700
2Q23.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Hyperactivity, Polyphagia, Evert...	ORPHA:228402
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Delayed eruption of teeth, Oligodontia, Tremor, Intention tremor, Short stature, G...	OMIM:614381
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Single umbilical artery, Polyhydramnios, Hypoplasia of penis, Finger synd...	ORPHA:2256
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Unicoronal synostosis, Bicoronal synostosis, Craniosynost...	OMIM:604757
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Sensorineural hearing impairment, Bifid nasal tip, Fle...	ORPHA:2712
Femoral-Facial Syndrome	Abnormal fibula morphology, Short nose, Orofacial cleft, Long penis, Microtia, Low-set ears, Abno...	ORPHA:1988
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me...	OMIM:616943
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Dysphagia, Long philtrum, Aggressive behavior, Short p...	OMIM:617061
Acromicric Dysplasia	Thick lower lip vermilion, Anteverted nares, Short long bone, Narrow mouth, Short metacarpal, Sho...	OMIM:102370
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Short Syndrome	Radial deviation of finger, Small for gestational age, Slender long bone, Delayed eruption of tee...	OMIM:269880
Bloom Syndrome	Agenesis of maxillary lateral incisor, Decreased circulating total IgM, Clinodactyly of the 5th f...	OMIM:210900
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Abnormality of the female genitalia, Short nose, Anemia, Hypospadias...	ORPHA:2315
Sotos Syndrome	Increased body weight, Decreased fetal movement, Aggressive behavior, Narrow palate, Advanced eru...	OMIM:117550
Rubinstein-Taybi Syndrome 2	Retrognathia, Hyperactivity, Prominent fingertip pads, Broad thumb, Syndactyly, Narrow palate, Ta...	OMIM:613684
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Deformed...	ORPHA:2831
Lowry-Maclean Syndrome	Osteopenia, Short nose, Retrognathia, High, narrow palate, Hypospadias, Craniosynostosis, Choanal...	ORPHA:2409
Orofaciodigital Syndrome I	Radial deviation of finger, Hypothalamic hamartoma, Myelomeningocele, Ovarian cyst, Syndactyly, T...	OMIM:311200
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Thin vermilion border, Genu valgum, Reduced bone mineral density, Spina bifida occult...	ORPHA:2983
Mannosidosis, Alpha B, Lysosomal	Widely spaced teeth, Hepatomegaly, Vacuolated lymphocytes, Gingival overgrowth, Femoral bowing, M...	OMIM:248500
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, External genital hypoplasia, Hepatomegaly, Recurrent respiratory infectio...	ORPHA:329178
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tonsillitis, Viral hepatitis, Decreased ...	ORPHA:183675
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Short dist...	OMIM:601812
Dubowitz Syndrome	Aplastic anemia, Hyperactivity, Syndactyly, Intrauterine growth retardation, Hypospadias, Short a...	OMIM:223370
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger, Open mouth	OMIM:617507
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Anemia, High palate, Micrognathia, Long philtrum	ORPHA:2598
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Intellectual Developmental Disorder, X-Linked 21	Short nose, Hyperactivity, Dental crowding, Mandibular prognathia, Impulsivity, Uplifted earlobe,...	OMIM:300143
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Elbow flexion contracture, Abnormality of the dentition, Osteoporo...	ORPHA:3206
Immunodeficiency 19	Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly...	OMIM:615617
Stickler Syndrome Type 1	Short nose, Long philtrum, Abnormal vitreous humor morphology, Abnormal vertebral epiphysis morph...	ORPHA:90653
Poikiloderma With Neutropenia	Short nose, Retrognathia, Long philtrum, Recurrent otitis media, Underdeveloped nasal alae, Recur...	OMIM:604173
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Low-set ears, High palate, Bilateral cryptorchidism, Short stature, Micrognathia, Pro...	OMIM:613544
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon...	OMIM:114000
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short nose, Epiphyseal stippling, Anteverted nares, Microtia, Choanal atresia, Mye...	ORPHA:1914
Brachycephaly, Trichomegaly, And Developmental Delay	Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Prader-Willi Syndrome Due To Translocation	Retrognathia, Head-banging, Everted lower lip vermilion, Bifid uvula, Wide mouth, Intrauterine gr...	ORPHA:177907
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Short...	OMIM:614524
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Hyperactivity, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Sh...	OMIM:615873
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Hypogonadism, Short distal phalanx...	OMIM:302950
Faciocardiomelic Syndrome	Polydactyly, Osteopenia, Hyperplasia of the maxilla, Large for gestational age, Slender long bone...	OMIM:612731
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnorma...	OMIM:241600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears, Abnormal social behavior	ORPHA:436151
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Arachnodactyly, Severe short stature, Long philtrum, Small scrotum, Advanc...	ORPHA:2215
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth...	ORPHA:289176
Acrofacial Dysostosis, Catania Type	Short nose, Abnormal palate morphology, Clinodactyly of the 5th finger, Hypospadias, Spina bifida...	ORPHA:1786
Craniolenticulosutural Dysplasia	Osteopenia, Long philtrum, Delayed eruption of teeth, Wide anterior fontanel, Narrow iliac wing, ...	OMIM:607812
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th...	OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Thick lower lip vermilion, Short philtrum, Talipes equinovarus, Hyperextensi...	OMIM:309583
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi...	ORPHA:93352
Distal Deletion 12Q	Hyperactivity, Microtia, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of the 3rd f...	ORPHA:96149
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Premature birth, Nonimmune hydrops fetalis, Decreased fetal movement, Long ph...	OMIM:208150
Raine Syndrome	Subperiosteal bone formation, Microdontia, Wide mouth, Increased bone mineral density, Choanal at...	OMIM:259775
Edinburgh Malformation Syndrome	Short nose, Thin vermilion border, Anteverted nares, Narrow mouth, Choanal atresia, Slender finge...	ORPHA:1895
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Sensorineural hearing impairment, Long philtrum, Intrauterine growth retardation...	ORPHA:391408
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Premature thelarche, Abnormal toe morphology, Dysphag...	ORPHA:268261
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Supernumerary tooth, Aplasia of the epiglottis, Hepatomegaly, Patent ductus art...	OMIM:617088
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Recu...	OMIM:614172
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Yellow-brown discoloration of the teeth, Death in adolescence, Abnormality of prenata...	OMIM:619229
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Hypoplastic nasal bone, Bifid ...	OMIM:154780
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ...	ORPHA:90652
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, High palate, Bowing of the long...	ORPHA:2632
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing...	OMIM:300554
Intellectual Developmental Disorder, Autosomal Dominant 26	Clinodactyly of the 5th finger, Small for gestational age, Short philtrum, Hyperactivity, Antever...	OMIM:615834
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hypospadias, Low-s...	ORPHA:568
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bones, Coxa valga,...	OMIM:255800
Astley-Kendall Dysplasia	Micromelia, Epiphyseal stippling	ORPHA:85175
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Attention deficit hyperactivity disorder, Short nose, Small for gestational age, Short stature	OMIM:245570
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Thin vermilion border, Hypospadias,...	ORPHA:96097
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Long philtrum, Mesenteric cyst, Hypospadias, Short philtrum, Recurrent respiratory in...	OMIM:618316
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short nose, Carpal bone hypoplasia, Limited elbow extension, Small epiphyses, Cranios...	OMIM:616723
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Breech present...	OMIM:615485
Poems Syndrome	Hepatomegaly, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, Increased circulating ...	ORPHA:2905
Emanuel Syndrome	Dental crowding, Recurrent sinusitis, Premature birth, Decreased fetal movement, Long philtrum, I...	OMIM:609029
Hypophosphatasia, Infantile	Anemia, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Abnormality of the dentitio...	OMIM:241500
Dpm1-Cdg	U-Shaped upper lip vermilion, High, narrow palate, External genital hypoplasia, Hepatomegaly, San...	ORPHA:79322
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal oral frenulum morphology, Mesomelia, Long ph...	ORPHA:2496
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Wide mouth, Anteverted nares, Camptodactyly, Osteoporosis...	OMIM:249420
Schneckenbecken Dysplasia	Short nose, Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped l...	OMIM:269250
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Long philtrum, Abnormality of dental eruption, Clinodactyly of the 5th finger, High...	ORPHA:96092
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of tee...	ORPHA:50814
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
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th f...	OMIM:618162
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Delayed puberty, Delayed eruption of teeth, Hypodontia, Oligodontia, Intention tre...	ORPHA:447896
Intellectual Developmental Disorder, X-Linked 98	Long nose, Hyperactivity, Bruxism, Aggressive behavior, Short philtrum, Anteverted nares, Increas...	OMIM:300912
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Short long bone, Femoral bowing, Clubbing, Tibial bo...	OMIM:601559
Gand Syndrome	Short philtrum, Hyperactivity, Long fingers, Inappropriate laughter, Broad nasal tip, Wide mouth,...	OMIM:615074
Craniofacial-Deafness-Hand Syndrome	Short nose, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxilla, Camptodactyly of fing...	ORPHA:1529
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Abnormal female external genitalia morphology, Hypoplastic iliac wing, Microdontia,...	ORPHA:2637
Ck Syndrome	Irritability, Hyperactivity, Dental crowding, High palate, Long fingers, Slender build, Prominent...	ORPHA:251383
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing...	OMIM:101600
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Obsessive-compulsive trait, Widely-spaced maxillary central incisors, Broad distal phalanx of fin...	ORPHA:363686
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Long philtrum, Dislocated radial head, Limited elbow extension and supination, Promin...	ORPHA:401935
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Umbilical...	OMIM:301040
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Abnormal nasopharynx morphology, Small scrotum, Short distal phalanx of finger, In...	OMIM:269150
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Cone-shaped epiphyses of the phalanges of the hand, Delayed epiphyseal ossification, ...	OMIM:618618
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalanges of finger, De...	OMIM:620545
Morm Syndrome	Retinal dystrophy, Truncal obesity, Hyperactivity, Retinal atrophy, Micropenis, Aggressive behavior	ORPHA:75858
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Sensorineural hearing impairment, Intrauteri...	OMIM:122470
13Q12.3 Microdeletion Syndrome	Chronic otitis media, Low insertion of columella, Hyperactivity, Oligodontia, Camptodactyly, Hear...	ORPHA:412035
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges ...	OMIM:619269
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Baker-Gordon Syndrome	Short nose, Prominent nasal tip, Dystonia, Motor stereotypy, Smooth philtrum, Self-injurious beha...	OMIM:618218
Tetrasomy 12P	Short nose, Long philtrum, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted...	ORPHA:884
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Recurrent otitis media, Wide nose, Short philtrum, High palate, Pre...	ORPHA:254531
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Rectovagina...	ORPHA:35078
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Genitopatellar Syndrome	Long philtrum, Clitoral hypertrophy, Wide nose, Delayed eruption of teeth, Low-set ears, Hypoplas...	ORPHA:85201
Coffin-Siris Syndrome 7	Hyperactivity, Microdontia, Wide mouth, Broad philtrum, Oligohydramnios, Single umbilical artery,...	OMIM:618027
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip dislocation, D...	OMIM:616007
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Abnormal palate morphology, Cachexia, Postaxial hand polydactyly, Microretrognathia, ...	ORPHA:1389
Sanjad-Sakati Syndrome	Thin vermilion border, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Ab...	ORPHA:2323
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Microphthalmia, Syndromic 2	Sandal gap, Sensorineural hearing impairment, Bifid nasal tip, Bifid uvula, Umbilical hernia, Lon...	OMIM:300166
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Short stature, Macrotia, Growth delay, Smooth philtrum, Long philtrum, Thin upper lip...	ORPHA:438178
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing,...	OMIM:614104
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Short nose, Anteverted nares, Elbow flexion contracture, Abnormality of the dentition...	OMIM:612394
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hyp...	OMIM:151210
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Clinodactyly of the 5th finger, Solitary median maxillary central inc...	ORPHA:952
Hsd10 Disease	Optic atrophy, Postnatal growth retardation, Abnormal social behavior, Tremor, Short attention sp...	ORPHA:391417
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Trunc...	ORPHA:2429
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Cari...	OMIM:612714
Coffin-Siris Syndrome	Wide nasal base, Hyperactivity, Wide mouth, Broad philtrum, Intrauterine growth retardation, Shor...	ORPHA:1465
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Recurrent bacterial infections, Absent c...	OMIM:619693
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, De...	OMIM:617237
Robinow Syndrome	Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, Bifid distal pha...	ORPHA:97360
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Cholangitis, Sclerosing cholangitis, Decreased proportion of...	OMIM:619652
Monosomy 9Q22.3	Polydactyly, Short nose, Rhabdomyosarcoma, Basal cell carcinoma, Large for gestational age, Long ...	ORPHA:77301
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Microdontia, Short sternum, Bifi...	OMIM:258850
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Anteverted nar...	ORPHA:1185
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu...	ORPHA:1855
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Small for gestational age, Angulated humerus, Short long bone, Bowing of ...	OMIM:616229
8P23.1 Microdeletion Syndrome	Short nose, Thin vermilion border, Proximal placement of thumb, Hypospadias, Abnormal pinna morph...	ORPHA:251071
Congenital Disorder Of Glycosylation, Type Iig	Microtia, Short long bone, Glossoptosis, Broad femoral neck, Intrauterine growth retardation, Lon...	OMIM:611209
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Verheij Syndrome	Short nose, Retrognathia, Long philtrum, Small for gestational age, Anteverted nares, Branchial c...	OMIM:615583
W Syndrome	Hypoplasia of the ulna, Broad uvula, Camptodactyly, Metatarsus adductus, Broad nasal tip, Upper l...	ORPHA:2804
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Retinal atrophy, Ab...	OMIM:216400
Even-Plus Syndrome	Short nose, Recurrent urinary tract infections, Bifid nasal tip, High palate, Depressed nasal rid...	OMIM:616854
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Hyperactivity, Anteverted ears, Short stature, Macrotia, Motor stereotypy, P...	OMIM:615541
Lathosterolosis	Anisopoikilocytosis, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Ambiguous genita...	OMIM:607330
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Hyperactivity, Dental crowding, Broad thumb, Arachnodactyly, Narrow nose, Aggressive b...	OMIM:309520
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Death in infancy, Facial hemangioma, Optic atr...	ORPHA:7
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Clinodactyly of the 5th finger, Sandal gap, Hyperactivity, Low-set ears, Compulsive b...	OMIM:618430
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Death in childhood, Low insertion of columella, Anteverted nares, Underdeveloped nasa...	OMIM:619005
20Q11.2 Microduplication Syndrome	Retrognathia, Microtia, Bifid scrotum, Lingual dystonia, Severe intrauterine growth retardation, ...	ORPHA:363659
Smith-Magenis Syndrome	Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve conduction velocity, ...	OMIM:182290
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Cranial hyperostosis, Oligodontia, Natal tooth	OMIM:601345
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
ERI1-related disease	Osteopenia, Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Olig...	OMIM:608739
Codas Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon...	OMIM:600373
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Micro Syndrome	Optic atrophy, Short nose, Delayed puberty, Low-set, posteriorly rotated ears, Short philtrum, Hy...	ORPHA:2510
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Hypospadias, Abno...	ORPHA:289
Pallister-Hall Syndrome	Microtia, Oligodactyly, Hypothalamic hamartoma, Shortening of all distal phalanges of the fingers...	OMIM:146510
Kagami-Ogata Syndrome	Retrognathia, Hepatomegaly, Patent ductus arteriosus, Anteverted nares, Hypoplasia of the maxilla...	OMIM:608149
Ellis-Van Creveld Syndrome	Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic...	OMIM:225500
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgrowt...	OMIM:618529
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Fragile teeth, Neoplasm of the pancreas, Hypospadias, Small for gestational age, Hypo...	ORPHA:2959
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, Persistent EBV viremia, T lymphocytop...	OMIM:619510
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Tongue thrusting, Hyperactivity, Eve...	OMIM:617865
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
19P13.3 Microduplication Syndrome	Hyperactivity, Microtia, Intrauterine growth retardation, Clinodactyly, Hip dislocation, Irritabi...	ORPHA:447980
Achondrogenesis, Type Ia	Hypoplastic sacrum, Abnormal hand bone ossification, Short ribs, Decreased skull ossification, Hy...	OMIM:200600
Donnai-Barrow Syndrome	Short nose, Retinal dystrophy, Retinal detachment, Wide anterior fontanel, Sensorineural hearing ...	ORPHA:2143
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice, Pancytopenia,...	ORPHA:79124
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Eve...	OMIM:601358
Immunodeficiency 47	Cholestasis, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Joint hypermobility, Decrease...	OMIM:300972
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Small pituitary gland, Optic nerve hypoplasia, Sensorineural hear...	ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Bilateral choanal atresia, Anemia, Hepatomegaly, Wide nose, Recurrent otitis...	OMIM:619525
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Convex nasal ridge, High, narrow pa...	ORPHA:3258
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Limitation of joint mobility, Flat acetabular roof, Bowing of the...	ORPHA:1801
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Hyperactivity, Macrotia, Thin upper lip vermilion, Motor stereotypy, Attention defici...	OMIM:620292
Placental Insufficiency	Abnormal placenta morphology, Small placenta, Miscarriage, Proportionate short stature, Abnormal ...	ORPHA:439167
Malan Syndrome	Short nose, Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia,...	OMIM:614753
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Decreased response to growth hormone stimulation test, Short metatarsal, Re...	ORPHA:79444
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Sepsis, Narrow nasal bridge, Hypodontia, Metacarpophalangeal joint contracture, Failu...	ORPHA:544503
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Abnormal metatarsal morphology, Anteverted...	ORPHA:163654
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Abnormal pancreatic du...	ORPHA:1190
Kleefstra Syndrome	Chronic otitis media, Hypoplasia of penis, Everted lower lip vermilion, Thickened helices, Aggres...	ORPHA:261494
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Short phil...	ORPHA:3306
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Facial diplegia, Cochlear malformation, Premature birth, Co...	ORPHA:96148
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, 2-3 toe syndactyly,...	OMIM:613443
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Bilateral cleft palate, Short ribs, Short met...	ORPHA:56304
Intellectual Developmental Disorder, Autosomal Dominant 43	Short philtrum, Low hanging columella, Hyperactivity, Anteverted nares, Microtia, Attached earlob...	OMIM:616977
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Wide nose, Hyperactivity, Anteverted nares, Sensorineural hearing impairmen...	OMIM:600430
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Hypoplasia ...	ORPHA:1295
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of the calcaneus, Low...	ORPHA:163966
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Sh...	ORPHA:3077
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Limitation of joint mobility, Hypop...	ORPHA:1865
Gomez-Lopez-Hernandez Syndrome	Short nose, Decreased response to growth hormone stimulation test, Thin vermilion border, Hyperac...	OMIM:601853
Intellectual Developmental Disorder, Autosomal Dominant 52	Breech presentation, Hyperactivity, Sensorineural hearing impairment, Irritability, Short philtru...	OMIM:617796
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Retrognathia, Short philtrum, Hypodontia, Microtia, Tapered finger, Na...	OMIM:620250
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Abnormal platelet function, Short metacarpal, Short 4th metacarpal,...	ORPHA:79443
Dermatitis Herpetiformis	Delayed eruption of teeth, Microcytic anemia, Dental enamel pits, Erosion of oral mucosa, Recurre...	ORPHA:1656
16P11.2P12.2 Microdeletion Syndrome	Chronic otitis media, Long nose, Short nose, Orofacial cleft, Proximal placement of thumb, Hypera...	ORPHA:261211
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
47,Xyy Syndrome	Congenital stationary night blindness, Male infertility, Finger clinodactyly, Hypospadias, Azoosp...	ORPHA:8
Rabson-Mendenhall Syndrome	Polydipsia, Clitoral hypertrophy, Dental crowding, Retinopathy, Increased pineal volume, Intraute...	ORPHA:769
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Pfeiffer Syndrome Type 1	Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Bicoronal synostosi...	ORPHA:93258
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Short nose, Osteopenia, Lambdoidal craniosynostosis, Large for gestationa...	OMIM:615398
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Bilateral cleft lip, Sex reversal, Fibular ...	OMIM:612651
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, Sensorineural hearing impairment, Low-set ears, Hig...	OMIM:614744
Stuve-Wiedemann Syndrome 2	Stillbirth, Short long bone, Death in adolescence, Bowing of the long bones, Camptodactyly, Neona...	OMIM:619751
Wiedemann-Steiner Syndrome	Hyperactivity, Contracture of the distal interphalangeal joint of the fingers, Intrauterine growt...	OMIM:605130
Duplication Of The Pituitary Gland	Congenital stationary night blindness, Retrognathia, Supernumerary tooth, Polyhydramnios, Encepha...	ORPHA:314621
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Hyperactivity, Sensorineural hearing impairment, Prominen...	OMIM:609625
Lamb-Shaffer Syndrome	Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Micrognathia, B...	ORPHA:530983
Holoprosencephaly 9	Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilateral cleft palate, Underd...	OMIM:610829
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Everted lower lip vermilion, Hypogonadism, External genital hypoplasia, Short philtrum, 4-5 toe s...	ORPHA:3041
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Orofaciodigital Syndrome Type 4	Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Severe short stature, Abnormality o...	ORPHA:2753
Sulfite Oxidase Deficiency, Isolated	Agitation, Delayed eruption of teeth, Death in infancy, Macrotia, Generalized dystonia, Choreoath...	OMIM:272300
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Short foot	OMIM:611263
Chst3-Related Skeletal Dysplasia	Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption of teeth, Short m...	ORPHA:263463
Adnp Syndrome	Sandal gap, Abnormal finger morphology, Microtia, Broad thumb, Abnormal toe morphology, Umbilical...	ORPHA:404448
Atelosteogenesis, Type I	Disproportionate short-limb short stature, Clubbing, Tibial bowing, Short metacarpal, Short humer...	OMIM:108720
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Sparse b...	OMIM:300009
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo...	OMIM:228520
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Hepatomegaly, Recurrent otitis media, Delayed eru...	OMIM:309900
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, Decreased skull ossification, Th...	ORPHA:93325
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Stereotypical hand wringing, Long hallux...	OMIM:619854
Distal Deletion 17Q	Abnormal thumb morphology, Hepatomegaly, Abnormal hip bone morphology, Abnormal metacarpal morpho...	ORPHA:1597
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Decreased fetal movement, Intrauteri...	OMIM:256520
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Periodontitis, Lymphadenopathy, Recurrent infec...	OMIM:214500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Short nose, Delayed puberty, Optic nerve hypoplasia, Mandibular prognathia, Microg...	ORPHA:496790
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Small for gestational age, Congenital bilateral hip dislocation, Tibial bowin...	ORPHA:453510
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233710
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Hypoplasia of penis, Limitation of joint mobility, Camptodactyly of finger, Micrognat...	ORPHA:2547
Mucopolysaccharidosis, Type Vi	Metaphyseal irregularity, Genu valgum, Hepatomegaly, Delayed eruption of teeth, Hypoplastic iliac...	OMIM:253200
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Hearing impairment, Prominent...	OMIM:618828
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Long philtrum, Intrauterine growth retardation, Oligohydramnios, Hypospadias, Tria...	OMIM:257300
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Hammertoe, Abnormal liver lobulation, Tracheomalaci...	OMIM:608022
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Dental crowding, Persistence of hemoglobin F, Persistence of primary te...	OMIM:619769
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia	OMIM:300299
Au-Kline Syndrome	Retrognathia, Breech presentation, Sensorineural hearing impairment, Microtia, Bifid nasal tip, L...	OMIM:616580
Apert Syndrome	Optic atrophy, Convex nasal ridge, Narrow palate, Ovarian neoplasm, Aplasia/Hypoplasia of the thu...	ORPHA:87
Diamond-Blackfan Anemia 8	Short nose, Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Wide...	OMIM:612563
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf...	OMIM:242700
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Prolonged...	ORPHA:363611
Stankiewicz-Isidor Syndrome	Retrognathia, Hypospadias, Hyperactivity, 2-3 toe syndactyly, Low-set ears, Abnormal optic disc m...	OMIM:617516
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Antley-Bixler Syndrome	Short nose, Anteverted nares, Femoral bowing, Narrow mouth, Choanal atresia, Joint stiffness, Cam...	ORPHA:83
Image Syndrome	Hypospadias, Micromelia, Metaphyseal dysplasia, Hypogonadism, Cryptorchidism, Depressed nasal bridge	ORPHA:85173
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Short long bone, Short ribs, Septate vagina, Absent nasal bridge, F...	OMIM:617925
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis	OMIM:613779
Whim Syndrome	Sepsis, Neutropenia, Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymph...	ORPHA:51636
Glutamine Deficiency, Congenital	Short nose, Thin vermilion border, Anteverted nares, Camptodactyly, Micromelia, Flexion contractu...	OMIM:610015
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Adenoma sebaceum, Abnormal hip bone morphology, Delayed eruption of teeth, N...	ORPHA:3353
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho...	ORPHA:2639
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Sandal gap, Anteverted nares, High palate, Micromelia, Arachnodactyly, Obesity, Join...	ORPHA:1035
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:233690
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Growth delay, Shortening of all distal phalanges of the fingers, Cleft palate, Broad ...	OMIM:615716
Meckel Syndrome, Type 8	Polydactyly, Short nose, Occipital encephalocele, Encephalocele, Low-set ears, Depressed nasal ri...	OMIM:613885
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Agitation, Aganglionic megacolon, Tapered finger, Abnormal autonomic nervous system p...	OMIM:613870
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Sepsis, Recurrent ...	ORPHA:293978
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Hyperactivity, Microdontia, Bone marrow hypocellularity...	OMIM:617052
Trichothiodystrophy	Osteopenia, Gonadal dysgenesis, Retrognathia, High, narrow palate, Anemia, Multiple joint contrac...	ORPHA:33364
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Slender long bone, Recurrent infections, High palate, Downturn...	OMIM:618590
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Short distal phalanx of finger, Aggressive behavior, Low frustration tolerance, Fu...	OMIM:300534
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Thick lower lip vermilion, Abnormality of the dentition, Precocious pu...	ORPHA:261652
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali...	ORPHA:261529
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Short clavicles, Narrow nasal ridge, Osteolytic defects of the distal phalanges of th...	OMIM:608612
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Dental crowding, Neoplasm of the skin, Everted ...	ORPHA:534
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of t...	OMIM:620186
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Obesity, Large ...	OMIM:157980
De Barsy Syndrome	Decreased fetal movement, Intrauterine growth retardation, Small, conical teeth, Umbilical hernia...	ORPHA:2962
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Hepatomegaly, Narrow nasal bridge, Low hanging columella, Anteverted nares, High pala...	OMIM:619383
Short-Rib Thoracic Dysplasia 12	Short long bone, Short ribs, Splenomegaly, Short finger, Short palm, Lobulated tongue, Patent duc...	OMIM:269860
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Hyperactivity, Optic nerve hypoplasia, Dysphagia, Intrauterine growth retarda...	ORPHA:508488
Miller-Dieker Syndrome	Short nose, Anteverted nares, Clinodactyly of the 5th finger, Abnormal upper lip morphology	ORPHA:531
Incontinentia Pigmenti	Cognitive impairment, Attention deficit hyperactivity disorder, Umbilical hernia, Abnormal chorio...	ORPHA:464
Meier-Gorlin Syndrome 6	Delayed puberty, Sandal gap, Microtia, Severe short stature, Umbilical hernia, Decreased response...	OMIM:616835
Bartsocas-Papas Syndrome	Short nose, Ambiguous genitalia, Finger syndactyly, Hypoplastic male external genitalia, Narrow m...	ORPHA:1234
Kabuki Syndrome 2	Prominent fingertip pads, Intrauterine growth retardation, Short 5th finger, Hip dislocation, Dep...	OMIM:300867
Stickler Syndrome	Reduced bone mineral density, Cachexia, Glossoptosis, Tooth agenesis, Arachnodactyly, Bifid uvula...	ORPHA:828
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:133540
Cornelia De Lange Syndrome	Delayed puberty, Proximal placement of thumb, Hypoplasia of penis, Sensorineural hearing impairme...	ORPHA:199
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Short nose, Wide nose, Small for gestational age, Low-set ears, Hearing impairment...	OMIM:614261
Desmosterolosis	Ambiguous genitalia, male, Short nose, Rhizomelia, Patent ductus arteriosus, Gingival fibromatosi...	OMIM:602398
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Arachnodactyly, Contracture of the distal interphalangeal join...	ORPHA:83617
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Bra...	ORPHA:2928
Floating-Harbor Syndrome	Long nose, Dislocated radial head, Short metacarpal, Cochlear malformation, Impulsivity, Microdon...	ORPHA:2044
5Q14.3 Microdeletion Syndrome	Short nose, Short philtrum, Optic nerve hypoplasia, Anteverted nares, Motor stereotypy, Open mout...	ORPHA:228384
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormal platelet function, Recurrent bacterial skin infections, E...	ORPHA:167
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epiphyseal sti...	ORPHA:79345
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Short nose, Polyhydramnios, Clinodactyly of the 5th finger, Delayed eruption of teet...	OMIM:247200
Autoinflammatory Disease, Systemic, X-Linked	Conical tooth, B lymphocytopenia, Complete or near-complete absence of specific antibody response...	OMIM:301081
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Polyhydramnios, Wide anterior fontanel, Short long bo...	OMIM:263210
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa...	OMIM:277600
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Long nose, Dysgammaglobulinemia, Recurrent otitis media, Sandal gap,...	OMIM:251260
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide mouth, Umbilical hernia, Small scrotum, Narrow nose, 2-3 toe cutaneous syndactyly, Short phi...	OMIM:618454
Zimmermann-Laband Syndrome 1	Long philtrum, Hepatomegaly, Patent ductus arteriosus, Spina bifida occulta, Long penis, Short ph...	OMIM:135500
Harel-Yoon Syndrome	Optic atrophy, Short nose, Mandibular prognathia, Micrognathia, Dystonia, Hip dysplasia	OMIM:617183
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos...	OMIM:164200
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Long philtrum, Dental crowding, High palate, Narrow mouth, Camptodactyly, Bilateral t...	OMIM:615539
Fetal Trimethadione Syndrome	Short nose, Hypospadias, Abnormal helix morphology, Low-set ears, High palate, Micrognathia, Intr...	ORPHA:1913
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Thin vermilion border, Clinodactyly of the 5th finger, Hypospadias, Sandal...	OMIM:617602
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Short long bone, Limitation of joint mobility, Bowing of the long b...	OMIM:224400
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Lim...	OMIM:619142
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, 2-3...	OMIM:218000
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Premature loss of teeth, Bowing of the long bones, Os...	OMIM:239000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Long philtrum, Genu valgum, Monkey wrench femoral neck, Clinodactyly of ...	OMIM:618870
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Widely spaced teeth, Hyperactivity, Low-set ears, Impulsivity, Coxa vara, Short stature, Smooth p...	OMIM:620445
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Short ribs, Hypoplastic ilia, Micromelia, Malar fl...	OMIM:600972
Trigonocephaly 1	Short nose, High, narrow palate, Long penis, Long philtrum, Craniosynostosis, Wide nasal bridge	OMIM:190440
Barber-Say Syndrome	Microtia, first degree, Wide mouth, Anteverted nares, Stenosis of the external auditory canal, He...	OMIM:209885
Congenital Disorder Of Glycosylation, Type Il	Short nose, Hepatomegaly, Failure to thrive, Wide mouth, Splenomegaly, Long philtrum, Depressed n...	OMIM:608776
Trisomy 20P	Abnormal hip bone morphology, Everted lower lip vermilion, Microdontia, Cognitive impairment, Abn...	ORPHA:261318
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Everted lower lip vermilion, Long philtrum, Craniosynostosis, Clinodact...	OMIM:608156
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Sandal gap, Hypoplasia of penis, Hyperactivity, Cachexia, Wide mouth...	ORPHA:85293
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ...	ORPHA:96334
3Q29 Microdeletion Syndrome	Short nose, Orofacial cleft, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Depress...	ORPHA:65286
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Optic atrophy, Short nose, Triphalangeal thumb, Severe postnatal growth retar...	ORPHA:3078
Donnai-Barrow Syndrome	Short nose, Retinal dystrophy, Retinal detachment, Wide anterior fontanel, Sensorineural hearing ...	OMIM:222448
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Low-set ears, Bilateral cleft lip, Protruding ear, Crypto...	OMIM:616788
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Arachnodactyly, Paranasal sinus hypoplasia, Bifid uv...	OMIM:300373
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Micrognathia	ORPHA:1514
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Thick nasal alae, Microdontia, Persistence of primary tee...	OMIM:618727
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Abnormal circulating C-reactive protein concentration, Increased circulating interleukin ...	OMIM:620514
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Short long bone, Postaxial polydactyly, Obesity, Brachydactyly, Cryptorchidism, R...	OMIM:615633
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
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Sensorineural hearing impairment, Exaggerated cupid's bow, Low-set ...	ORPHA:261236
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Anteverted nares, Decreased body weight, Precocious puberty, Hearing impairment, C...	OMIM:300958
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Single umbilical artery, Disproportionate short-limb short stature, Shor...	OMIM:224410
Warburg Micro Syndrome 2	Optic atrophy, Clinodactyly of the 5th toe, Short nose, Postnatal growth retardation, Undetectabl...	OMIM:614225
Acrofrontofacionasal Dysostosis	Hypospadias, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid scrotum, Abnormal epi...	ORPHA:1784
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Short ribs, Microdontia, Mesomelia, Syndactyly, Short dist...	OMIM:614091
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology...	ORPHA:429
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Cardioacrofacial Dysplasia 2	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Prominent nasal tip, ...	OMIM:619143
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Bifid scrotum, Impulsivity, Cognitive impairment, Head titubation...	OMIM:619475
Gm1 Gangliosidosis Type 1	Abnormal placenta morphology, Long philtrum, Hydrops fetalis, Broad long bone diaphyses, Gingival...	ORPHA:79255
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Distal shortening of limbs, Wide nasal base, Spina bifida occulta, Depr...	ORPHA:488434
Jeune Syndrome	Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:474
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infections, Increased circulatin...	OMIM:620565
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Narrow palate, Hypospadias, Craniosynostosis, Anteverted nares, Gingival...	OMIM:123790
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Prominent fingertip pads, Glossoptos...	OMIM:602535
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Premature birth...	OMIM:608013
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Mesomelia, Syndactyly, Long philtrum, Clinodactyly, Triangular mouth, Anteverted nar...	OMIM:616894
Marshall Syndrome	Sensorineural hearing impairment, Hypoplastic frontal sinuses, Long philtrum, Anteverted nares, A...	ORPHA:560
Schinzel-Giedion Syndrome	Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysphagia, Umbilical hernia, Shor...	ORPHA:798
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Chronic neutropenia, Epistaxis, Hepatic steatosis, Hepatocellular carcino...	ORPHA:79259
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Mandibular prognathia, Broad thumb, Metaphyseal wi...	OMIM:612813
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Polyhydramnios, Anteverted...	OMIM:619859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
White-Sutton Syndrome	Hyperactivity, Optic nerve hypoplasia, Sensorineural hearing impairment, Broad thumb, Bifid uvula...	OMIM:616364
Cockayne Syndrome Type 1	Optic atrophy, Postnatal growth retardation, Hypoplasia of the primary teeth, Anemia, Delayed eru...	ORPHA:90321
Leukodystrophy, Hypomyelinating, 10	Short nose, Thin vermilion border, Anteverted nares, Low-set ears, Hearing impairment, Arachnodac...	OMIM:616420
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ...	ORPHA:85410
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Short humerus, Short distal ph...	OMIM:309350
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Breech presentation, Bilateral conductive hearing impairment, Low-set ears, Micrognat...	OMIM:617802
Hypomandibular Faciocranial Dysostosis	Short nose, Polyhydramnios, Anteverted nares, Maxillozygomatic hypoplasia, Low-set ears, Narrow m...	ORPHA:1790
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl...	OMIM:610163
19P13.12 Microdeletion Syndrome	Sandal gap, Hyperactivity, Sensorineural hearing impairment, Abnormal pinna morphology, Long phil...	ORPHA:254346
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Anemia, Truncal obesity, Tooth malposition, Broad nasal tip, Prominent nasal bridge, L...	OMIM:616541
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Delayed puberty, Sensorineural hearing impairment, Everted lower lip vermilion, Abnor...	ORPHA:293987
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Joint stiffness, Wide mouth, Long philtrum, Cone-shap...	OMIM:231050
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Short nose, Abnormal palate morphology, Anemia, Anteverted nares, Sens...	ORPHA:2719
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Lipoma, Cachexia, Abnormal optic nerve morphology, Broad thumb, Neoplasm, L...	ORPHA:109
Toluene Embryopathy	Short nose, Thin vermilion border, Low-set ears, Short stature, Micrognathia, Smooth philtrum, Pr...	ORPHA:1920
Congenital Syphilis	Optic atrophy, Hyperplasia of the maxilla, Large placenta, Anemia, Hydrops fetalis, Tibial bowing...	ORPHA:499009
Trisomy 18	Abnormal hip bone morphology, Anencephaly, Cachexia, Cognitive impairment, Intrauterine growth re...	ORPHA:3380
Burn-Mckeown Syndrome	Short nose, Abnormal palate morphology, Bilateral choanal atresia, Prominent nasal bridge, Wide n...	ORPHA:1200
Immunodeficiency 59 And Hypoglycemia	Sepsis, Hepatomegaly, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections...	OMIM:233600
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Decreased fetal movement, Overlapping toe, Decreased response to growth horm...	OMIM:213980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Warburg Micro Syndrome 3	Optic atrophy, Short nose, Postnatal growth retardation, Narrow palate, Clinodactyly of the 5th f...	OMIM:614222
Deeah Syndrome	Retrognathia, Death in adolescence, Death in infancy, Dysphagia, Long philtrum, Intrauterine grow...	OMIM:619004
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Absent cupid's bow, Choanal atresia, Hearing impairment, Posteriorly rotated ears, Ch...	ORPHA:284169
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Death in infancy, Micrognathia, Natal tooth, Sagittal craniosynostosis	OMIM:616901
Chromosome Xq13 Duplication Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, Hyperactivity, Emotional lability, Mandib...	OMIM:301069
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Recurrent otitis media, Metaphyseal sclerosis, Juvenile rheumatoid arthritis, ...	OMIM:607944
Charge Syndrome	Delayed puberty, Abnormal pinna morphology, Microtia, Bifid scrotum, Anosmia, Attention deficit h...	ORPHA:138
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Recurrent infections, Rectal abscess, Chronic mucocutaneous candidiasis, Recurrent...	OMIM:116920
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Clinodactyly, Short phi...	OMIM:280000
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Hyperactivity, Microtia, Tapered finger, Short attention span, Short foot, Low-set ea...	OMIM:618089
Laron Syndrome	Short long bone, Limb undergrowth	OMIM:262500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar...	OMIM:618019
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Conical i...	OMIM:300291
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Retrognathia, Jaundice, Hepatomegaly, Wide nose, Recurrent infections, Narrow mouth, ...	OMIM:608779
Werner Syndrome	Rocker bottom foot, Neoplasm of the oral cavity, Aplasia/Hypoplasia of the testes, Ovarian neopla...	ORPHA:902
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Hypodontia, Wide anterior fontanel, Gingival hyper...	OMIM:225410
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Metacarpophalangeal joint hyperextensibility, Macroorch...	OMIM:300624
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Undetectable visual evoked potentials, Low-set ears, Thick nasal alae, ...	ORPHA:163961
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Short long bone, Glossoptosis, Limb dystonia, Short stature, Cleft...	OMIM:620269
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi...	ORPHA:85166
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Short philtrum, Tented upper lip vermilion, Motor stereotypy, Shawl scrotum	ORPHA:85277
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Dental crowding, Prominent nasal tip, Mandibular progna...	OMIM:610883
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H...	OMIM:249700
Myoclonic-Astatic Epilepsy	Long philtrum, Abnormal emotion, Thick lower lip vermilion, Hyperactivity, Anteverted nares, Trem...	ORPHA:1942
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A...	ORPHA:85436
19P13.13 Microdeletion Syndrome	Optic atrophy, Short nose, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Low-set ears, Hi...	ORPHA:357001
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Hypothalamic hamartoma, Thyroid hypoplasia, Broad ...	ORPHA:672
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Enamel agenesis, Long philtrum, Anteverted nares, Short stature, Exostoses, Cleft pal...	OMIM:614701
Immunodeficiency 27B	Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurrent mycobacteri...	OMIM:615978
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Short stature, Posteriorly rotated ears, Long philtrum, Optic disc pallor	OMIM:300887
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Mandibular prognathia, Cryptorchidism, Hearing impairment, Macro...	ORPHA:90322
Acrocapitofemoral Dysplasia	Flared iliac wing, Coxa vara, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarpa...	ORPHA:63446
Cardiofaciocutaneous Syndrome 1	Osteopenia, Short nose, Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, ...	OMIM:115150
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Genu varum,...	ORPHA:93308
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Short philtrum, Delayed ossification of carpal bones, Mandibular prognathia, Cleft up...	OMIM:239300
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Micromelia	OMIM:273680
Immunodeficiency 68	Sepsis, Abnormal natural killer cell count, B lymphocytopenia, Recurrent meningitis, Lymphadeniti...	OMIM:612260
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Pancre...	ORPHA:280365
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Hypospadias, Tracheomalacia, Patent ductus arteriosus, W...	OMIM:217980
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Thin vermilion border, Premature ovarian insufficiency, Irritability, Hyperactivity, 2-3 toe synd...	ORPHA:391307
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Wide nose, Delayed eruption of t...	OMIM:614188
Hereditary Geniospasm	Abnormal lower lip morphology, Abnormal social behavior	ORPHA:53372
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Short philtrum, Anteverted nares, High palate, Dystonia, Broad hallux, Tented upper l...	OMIM:614105
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Abnormality of the medullary cavity of the long bones, Increased bone...	OMIM:127000
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Postnatal growth retardation, Short nose, Long philtrum, Subretinal pigment epithelium hemorrhage...	ORPHA:357074
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Wide nose, Join...	OMIM:147060
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Congenital hypertrophy of retinal pigment epithelium, Odontoma,...	ORPHA:247806
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Long nose, Hypospadias, Oral-pharyngeal dysphagia, Hypodontia, Dent...	OMIM:619184
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limited elbow extension, Limb undergrowth, Bowing of the legs	ORPHA:156728
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Anteverted nares, Sensorineural ...	OMIM:215150
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Cebalid Syndrome	Short nose, Anteverted nares, Abnormal pinna morphology, Low-set ears, Polyphagia, Depressed nasa...	OMIM:618774
Spondyloocular Syndrome	Osteopenia, Femur fracture, Decreased body weight, Abnormality of the dentition, Unilateral crypt...	OMIM:605822
Al-Raqad Syndrome	Short nose, Sandal gap, Narrow mouth, Brachydactyly, Joint hypermobility, Thin upper lip vermilion	OMIM:616459
Lathosterolosis	Anisopoikilocytosis, Short nose, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Ant...	ORPHA:46059
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Low-set ears, Everted ...	ORPHA:1699
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Breech presentation, Hyperactivity, Sensorineural hearing impairment, Postaxial polydactyly, Fail...	OMIM:615824
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Geleophysic Dysplasia 3	Limited elbow movement, Hepatomegaly, Anteverted nares, Epiphyseal dysplasia, Limb undergrowth, T...	OMIM:617809
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Re...	OMIM:619381
Peters-Plus Syndrome	Bilobate gallbladder, Square pelvis bone, Proximal placement of thumb, Disproportionate short-lim...	OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Wide mouth, Long philtrum, Overlapping toe, Clinodactyly, Optic atrophy, Hypospadi...	OMIM:309590
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Hepatomegaly, Lymph...	OMIM:306400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,...	ORPHA:536467
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge	OMIM:300581
Degcags Syndrome	Retrognathia, Abnormal spleen morphology, Cholestasis, Leukopenia, Syndactyly, Wide mouth, Long p...	OMIM:619488
Primary Ciliary Dyskinesia	Recurrent otitis media, Clubbing, Nasal congestion, Chronic rhinitis, Asplenia, Nasal polyposis, ...	ORPHA:244
Rhombencephalosynapsis	Polydactyly, Short nose, Aganglionic megacolon, Low-set, posteriorly rotated ears, Finger syndact...	ORPHA:59315
Tetrasomy 5P	Short nose, Clinodactyly of the 5th finger, Short hallux, Wide anterior fontanel, Anteverted nare...	ORPHA:3309
Peho Syndrome	Optic atrophy, Short nose, Retrognathia, Undetectable visual evoked potentials, Tented upper lip ...	OMIM:260565
Ficolin 3 Deficiency	Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat...	OMIM:613860
Van Esch-O'Driscoll Syndrome	Short nose, Protruding ear, Retrognathia, Clinodactyly of the 5th finger, Spina bifida occulta, M...	OMIM:301030
Faciodigitogenital Syndrome, Autosomal Recessive	Microtia, Wide mouth, Syndactyly, Narrow palate, Anteverted nares, Camptodactyly, Proportionate s...	OMIM:227330
Sclerosteosis 1	Sclerotic scapulae, Tooth malposition, Mandibular prognathia, Abnormal pelvic girdle bone morphol...	OMIM:269500
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Hyperactivity, Sensorineural hearing imp...	OMIM:613406
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Long philtrum, Wide anterior fontanel, Anteverted nares, High palate, Narrow mouth, C...	OMIM:219200
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Osteopenia, Aplasia/Hypoplasia of the vertebrae, Abnormal ilium mor...	ORPHA:168549
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda...	ORPHA:2557
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Optic atrophy, Short nose, Low-set, posteriorly rotated ears, Hyperextensibil...	ORPHA:521426
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia of the uterus, Aplasia/Hypoplasia involving the pelvis, Intrauterine...	ORPHA:2879
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Hypospadias, Low hanging columella, Anteverted nares, Tracheobronchomalac...	ORPHA:500159
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Anteverted nares, Broad ischia, B...	OMIM:619727
Glass Syndrome	Long nose, Hyperactivity, Dental crowding, Arachnodactyly, Long philtrum, Narrow nose, Aggressive...	OMIM:612313
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Long philtrum, Short distal phalanx of finger, Abnormal ilium morphology, Anteverted nares, Tremo...	OMIM:614080
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Micromelia, Decreased calvarial ossification, Joint hypermobility, Ambiguous...	ORPHA:2772
Ataxia-Telangiectasia	Recurrent lower respiratory tract infections, Recurrent bronchitis, Abnormal spermatogenesis, Hyp...	OMIM:208900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Me...	ORPHA:440354
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Short nose, Retrognathia, Polyhydramnios, Sandal gap, Hypoplasia of p...	ORPHA:1812
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Microtia, Long philtrum, Small scrotum, Breast hypoplasia, Camptodactyly, Cry...	OMIM:601353
Opsismodysplasia	Short nose, Long philtrum, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted na...	OMIM:258480
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Hypoplasia of the prem...	ORPHA:1106
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Anemia, Cleft hard palate, Delaye...	OMIM:300990
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, 2-3 toe syndactyly, Ol...	ORPHA:37553
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Optic atrophy, Short nose, Low-set ears, High palate, Exaggerated startle res...	OMIM:617527
Restrictive Dermopathy 1	Rocker bottom foot, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtubulated long bon...	OMIM:275210
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Hypoplastic iliac wing, Microtia, Short long bone, Sho...	OMIM:611717
Wiedemann-Steiner Syndrome	Hyperactivity, Dysphagia, Long philtrum, Intrauterine growth retardation, Clinodactyly, Aggressiv...	ORPHA:319182
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Overlapping toe, Short philtrum, Anteverted nares, Clef...	ORPHA:435638
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, Anteverted nares, Ec...	OMIM:620558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Advanced eruption of teeth, Long penis, Mandibular prognathia, High palate,...	OMIM:262190
Microform Holoprosencephaly	Short nose, Orofacial cleft, Solitary median maxillary central incisor, Short philtrum, Narrow na...	ORPHA:280200
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Hypoplasia of the ovary, Low insertion ...	ORPHA:79328
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Hepatomegaly, Delayed eruption of teeth, Gingival overgrowth, Microdontia, T...	OMIM:301072
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Aplasia of the epiglottis, Postaxial hand polydactyly, Cleft palate, Bro...	OMIM:615948
Baller-Gerold Syndrome	Intrauterine growth retardation, Abnormal carpal morphology, Abnormal metacarpal morphology, Apla...	ORPHA:1225
4Q21 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Abnormality of the dentition, Micromelia, Short palm, Down...	ORPHA:238750
Trichohepatoenteric Syndrome 1	Microtia, Cognitive impairment, Bifid uvula, Wide mouth, Splenomegaly, Abnormalities of placenta ...	OMIM:222470
Adenylosuccinase Deficiency	Short nose, Hyperactivity, Anteverted nares, Low-set ears, Growth delay, Thin upper lip vermilion...	OMIM:103050
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatitis, Oral ulcer, Hepatocellular carcinoma, Osteoporosis, Splenomegaly, Gou...	OMIM:232220
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ...	OMIM:143095
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Short nose, High palate, Death in infancy, Micrognathia, Thin upper lip vermilion	OMIM:615042
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic...	ORPHA:2348
Erdheim-Chester Disease	Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Osteomyelitis, Weight los...	ORPHA:35687
Roberts Syndrome	Clitoral hypertrophy, Radial deviation of finger, Mesomelic arm shortening, Proximal placement of...	ORPHA:3103
Wagro Syndrome	Hypoplastic female external genitalia, Agitation, Emotional lability, Dental crowding, Mandibular...	OMIM:612469
Mend Syndrome	Hyperactivity, Overlapping toe, Aggressive behavior, Short stature, Failure to thrive, Asymmetry ...	ORPHA:401973
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Mandibular prognathia, M...	ORPHA:2252
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Abnor...	ORPHA:79500
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Temporomandibu...	OMIM:164900
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Severe cytomegalovirus infection, Impaired lymphocyte transformation with phytohemagglutinin, B l...	OMIM:619313
Cerebrooculonasal Syndrome	Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,...	OMIM:605627
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Short hallux, Finger syndactyly, Tracheomalacia, Limitation o...	ORPHA:93259
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Cirrhosis, Reduced bone mineral density, Anemia, Pancytopenia, Recurrent uri...	OMIM:613658
Down Syndrome	Sandal gap, Microdontia, Joint hypermobility, Narrow palate, Abnormality of the dentition, Neutro...	ORPHA:870
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Hyperautofluorescent macular...	OMIM:209900
21Q22.11Q22.12 Microdeletion Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Hyperactivity, Dental crowding, Microtia, Bru...	ORPHA:261323
Pandas	Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Exaggerated...	ORPHA:309246
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Deviation of the hallux, Low-set, pos...	ORPHA:434179
Gaucher Disease Type 3	Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Increased bone mineral ...	ORPHA:77261
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Irritability, Hypoplasia of penis, Depression, Anteverted nares, Abnormal testis morp...	ORPHA:96147
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Distal Deletion 9P	Short nose, High, narrow palate, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplas...	ORPHA:1642
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Delayed early-childhood social milestone development, Mandibular prognathia, Antevert...	OMIM:618087
Insulin-Like Growth Factor I Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Hyperactivity, Sensorineural hearin...	OMIM:608747
Fg Syndrome 3	Hyperactivity, Sensorineural hearing impairment, Death in infancy, Broad thumb, Broad hallux, Cry...	OMIM:300406
Hypochondroplasia	Disproportionate short-limb short stature, Flared metaphysis, Short long bone, Trident hand, Depr...	OMIM:146000
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Occipital encephalocele, Radial deviation of finger, Breech presentati...	OMIM:249000
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microtia, Microdontia, Bifid uvula, ...	OMIM:613458
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Short nose, Talipes equinovarus, Anteverted nares, High palate, Camptodactyl...	OMIM:617822
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Memory impairment, Compulsive behaviors, Diminished ability to concentrate, Slender...	OMIM:615656
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Irritability, Abnormal social behavior, Delayed eruption of teeth, Anteverted nares...	ORPHA:1675
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Hyperactivity, Mandibular prognathia, Hypoplastic nipples, Abnorm...	OMIM:618505
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose, Osteoporosis, Failure to thrive, Micrognathia, Flexion contracture	OMIM:615851
Cranioectodermal Dysplasia 2	Retrognathia, Portal fibrosis, Short ribs, Cholestasis, Everted lower lip vermilion, Microdontia,...	OMIM:613610
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Abnormal temper tantrums, Long philtrum, Childhood onset sensorineu...	ORPHA:251061
Focal Dermal Hypoplasia	Mixed hearing impairment, Short metacarpal, Myelomeningocele, Split foot, Umbilical hernia, Optic...	OMIM:305600
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humeror...	OMIM:251230
Gaucher Disease	Increased circulating antibody level, Joint stiffness, Leukopenia, Splenomegaly, Pathologic fract...	ORPHA:355
Kaufman Oculocerebrofacial Syndrome	Short nose, Clitoral hypertrophy, Clinodactyly of the 5th finger, Anteverted nares, Abnormal pinn...	OMIM:244450
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis, Micromelia	ORPHA:93283
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Hyp...	OMIM:180849
Mosaic Trisomy 16	Abnormality of the nose, Single umbilical artery, Large placenta, Hypospadias, Small for gestatio...	ORPHA:1708
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Short nose, Hip subluxation, Anterior pituitary hypoplasia, Low-set ears, High pal...	OMIM:613457
Niemann-Pick Disease Type C	Limb dystonia, Cognitive impairment, Dysphagia, Splenomegaly, Aggressive behavior, Hydrops fetali...	ORPHA:646
Coffin-Siris Syndrome 1	Retrognathia, Clitoral hypertrophy, Sandal gap, Dislocated radial head, Abnormal pinna morphology...	OMIM:135900
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Cleft palate, ...	ORPHA:1318
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Broad thumb, Wide mouth, Splenomegaly, Hypospadias, Talipes equinovarus, Ant...	ORPHA:373
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger...	OMIM:614114
Opitz Gbbb Syndrome	Bifid scrotum, Dysphagia, Umbilical hernia, Long philtrum, Hypospadias, Anteverted nares, Bicornu...	ORPHA:2745
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Small earlobe, Microtia, Dysphagia, Intrauterine growth retardation, Short 5th finger,...	OMIM:619522
Rauch-Steindl Syndrome	Postnatal growth retardation, Long philtrum, Thin vermilion border, Clinodactyly of the 5th finge...	OMIM:619695
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Pol...	ORPHA:93316
Intellectual Developmental Disorder, Autosomal Dominant 29	Sandal gap, Hyperactivity, Dental crowding, Long philtrum, Aggressive behavior, Narrow palate, He...	OMIM:616078
Chops Syndrome	Short nose, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nare...	OMIM:616368
Microlissencephaly-Micromelia Syndrome	Short nose, Hypoparathyroidism, 11 pairs of ribs, Micromelia, Failure to thrive, Long philtrum, A...	ORPHA:50810
Trisomy 10P	Retrognathia, Dysphagia, Intrauterine growth retardation, Abnormality of the ear, Anteverted nare...	ORPHA:171929
Jacobsen Syndrome	U-Shaped upper lip vermilion, Short nose, Annular pancreas, Clinodactyly of the 5th finger, Hypos...	OMIM:147791
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Hypodontia, Sensorineural hearing impair...	ORPHA:90024
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Distal Duplication 17Q	Hyperactivity, Arachnodactyly, Severe short stature, Wide mouth, Overlapping toe, Rhizomelia, Low...	ORPHA:3379
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Lattice retinal degeneration, Dumbbell-shaped long bone, Rh...	ORPHA:485
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, R...	OMIM:608940
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Abnormal pelvic girdle bone morphology, Short metacarpal, Male pseu...	ORPHA:1422
Chromomycosis	Lymphangiectasis, Abnormal oral cavity morphology, Ankylosis, Recurrent bacterial infections, Ost...	ORPHA:182
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Long philtrum, Low-set ears, Retinal coloboma, Short stature, Downturned corners of m...	OMIM:618571
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Underdeveloped su...	ORPHA:369950
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul...	OMIM:615777
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Patent ductus arteriosus, Micromelia, ...	ORPHA:2655
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Osteolytic defects of the distal phalanges of the hand, Narrow mouth, Abnormality of ...	ORPHA:90154
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon...	ORPHA:3261
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Short humerus, Hypoplastic facial bones, Long philtrum, Long toe, Clinodactyl...	OMIM:264090
Barber-Say Syndrome	Breast aplasia, Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Hypoplast...	ORPHA:1231
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Fetal Alcohol Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Non-midline cleft of the upper l...	ORPHA:1915
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, I...	ORPHA:239
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, 2-3 toe syndactyly, Short ribs, Missing ribs, Hypoplastic isc...	OMIM:617866
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti...	OMIM:615607
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Postnatal growth retardation, 2-3 toe cutaneous syndactyly, Hyperactivity, Depression, High palat...	OMIM:620242
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Osteopenia, Abnormal circulating interferon-gamma concentration, Rec...	ORPHA:391487
Cockayne Syndrome	Delayed puberty, Cachexia, Retinal atrophy, Cognitive impairment, Action tremor, Agenesis of perm...	ORPHA:191
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal...	ORPHA:1652
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Restrictive Dermopathy	Short umbilical cord, Large placenta, Polyhydramnios, Small placenta, Hypospadias, Temporomandibu...	ORPHA:1662
Carey-Fineman-Ziter Syndrome	Short nose, Long philtrum, Thin vermilion border, Glandular hypospadias, Anteverted nares, Glosso...	ORPHA:1358
Mosaic Trisomy 9	Rocker bottom foot, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fa...	ORPHA:99776
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo...	ORPHA:321
Jacobsen Syndrome	Death in infancy, Bone marrow hypocellularity, Premature birth, Intrauterine growth retardation, ...	ORPHA:2308
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Short nose, Decreased nerve conduction velocity, Hearing impairment, Abnormality o...	OMIM:256600
Ogden Syndrome	Everted upper lip vermilion, Sandal gap, Bifid nasal tip, Dysphagia, Umbilical hernia, Intrauteri...	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Long nose, Broad distal phalanx of finger, Retrognathia, Abnorma...	ORPHA:2636
Ring Chromosome 7 Syndrome	Small earlobe, Severe intrauterine growth retardation, Bifid uvula, Hypogonadism, Short 5th finge...	ORPHA:1449
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, High palate, Coxa vara, Congenital hip dislocation, Cariou...	ORPHA:2834
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Jaundice, Reduced circulating prolactin concentration, Anteverted nares, Anterior pit...	OMIM:613038
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Retrognathia, Fetal distress, Anteverted nares, Low-set ears, Exaggerated startle ...	OMIM:617301
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Anteverted nares, Microtia, Low-set ears, Choanal atresi...	OMIM:610536
Mesomelic Dysplasia, Nievergelt Type	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Clinodactyly of the 5th...	ORPHA:2633
Legius Syndrome	Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Hyperactivity, Acute monocytic leu...	ORPHA:137605
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Limitation of joint mobility, Micromelia, Coxa vara	ORPHA:168555
Wrinkly Skin Syndrome	Osteopenia, Long philtrum, Slender long bone, Delayed eruption of teeth, Wide anterior fontanel, ...	OMIM:278250
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Severe cytomegalovirus infection, Hepatic steatosis, Jaundice, Hepat...	OMIM:619573
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Retrognathia, Large placenta, Polyhydramnios, Anteverted nares, Exa...	ORPHA:254528
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, J...	ORPHA:2249
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
7Q11.23 Microduplication Syndrome	Chronic otitis media, Retrognathia, Abnormal earlobe morphology, Hyperactivity, Abnormal optic di...	ORPHA:96121
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac...	OMIM:617895
Congenital Myopathy 22B, Severe Fetal	Short nose, Retrognathia, Hepatomegaly, Tapered toe, Triangular mouth, Slender long bone, Shoulde...	OMIM:620369
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Co...	OMIM:602875
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, Decreased response to growth hormone stimulation test, 11 pair...	ORPHA:488632
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Microt...	OMIM:618619
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Thick lower lip vermilion, Mesiodens, Wide nose, Memory impairment, Abnormal social behavior, Ant...	ORPHA:314647
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Short nose, Optic nerve hypoplasia, Sensorineural hearing impairmen...	OMIM:300749
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Peho Syndrome	Short nose, Abnormal palate morphology, Anteverted nares, Gingival overgrowth, Limitation of join...	ORPHA:2836
Acrocephalopolydactylous Dysplasia	Short nose, Hepatomegaly, Postaxial hand polydactyly, Micromelia, Craniosynostosis, Hepatic fibro...	OMIM:200995
Kinsship Syndrome	Dislocated radial head, Mesomelia, Wide mouth, Coxa valga, Hip dislocation, Polydactyly, Fibular ...	OMIM:619297
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Long philtrum, Low-set, posteriorly rotated ears, Retinal detachment, Abnormal pinna ...	ORPHA:2953
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,...	ORPHA:93346
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Hyperactivity, Mandibular prognathia, Abnormality of superior crus of antihe...	OMIM:301013
Cardiofaciocutaneous Syndrome	Optic atrophy, Short nose, Long philtrum, Genu valgum, Low-set, posteriorly rotated ears, Antever...	ORPHA:1340
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Short metacarpal, Everted lower lip vermilion, Thick nasal sept...	OMIM:303600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Mandibular prognathia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility, Ab...	ORPHA:171866
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Khan-Khan-Katsanis Syndrome	Short nose, Anemia, Triangular mouth, Postaxial polydactyly, Failure to thrive, Micrognathia, Joi...	OMIM:618460
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Long nose, Short philtrum, Hyperactivity, Low frustration tolerance, Mandibular prognathia, Micro...	OMIM:300486
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Thanatophoric Dysplasia, Type I	Decreased fetal movement, Polyhydramnios, Breech presentation, Disproportionate short-limb short ...	OMIM:187600
Pontocerebellar Hypoplasia, Type 10	Short nose, Widely spaced teeth, Low hanging columella, Tapered finger, High palate, Bulbous nose...	OMIM:615803
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Failure to thriv...	OMIM:615895
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Broad alveolar ridges, Dental crowding, B...	OMIM:270400
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Retinal detachment, Mandibular prognathia, Tapered finger, Calcaneovalgus deformi...	ORPHA:521445
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Sandal gap, Optic nerve hypoplasia, Bifid uvula, Umbilical hernia, Small scrotum, L...	OMIM:620330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Sepsis, Anemia, Patent ductus arteriosus, Joint stiffness, Bone marrow hypocellularit...	ORPHA:505248
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Polyhydramnios, Short philtrum, Microtia, Mandibular prognathi...	OMIM:613603
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Abnormal antihelix morphology, Mandibular prognathia, Everted lower lip vermilion, Gr...	ORPHA:261144
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Memory impairment, Depression, Sensorineural hearing impairment, Dementia, Narcolepsy	OMIM:604121
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Meningitis, Recurrent bacterial infections	ORPHA:36412
Kagami-Ogata Syndrome	Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Antevert...	ORPHA:254519
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Memory impairment, Resting tremor, Sensorineural hearing impairment, Depression, H...	ORPHA:314404
Pfeiffer Syndrome Type 3	Short nose, Short hallux, Finger syndactyly, Tracheomalacia, Limitation of joint mobility, Choana...	ORPHA:93260
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Hypogonadism, Rickets, External genital h...	ORPHA:2671
Cystic Fibrosis	Osteopenia, Absent vas deferens, Cirrhosis, Nontuberculous mycobacterial pulmonary infection, Rec...	ORPHA:586
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Lysinuric Protein Intolerance	Osteopenia, Cirrhosis, Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Increased circulatin...	ORPHA:470
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, Open bite, Overf...	ORPHA:1974
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Toriello-Carey Syndrome	Postnatal growth retardation, Short nose, Abnormal palate morphology, Aganglionic megacolon, Wide...	ORPHA:3338
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Decre...	OMIM:263650
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dislocated radial head, Narrow nasal ridge, Sensorineural hearing impairment, Hyperactivity, Long...	OMIM:619512
Omodysplasia 1	Limited knee extension, Short humerus, Long philtrum, Fibular hypoplasia, Rhizomelia, Increased f...	OMIM:258315
Developmental And Epileptic Encephalopathy 75	Short nose, Short philtrum, Anteverted nares, Prolonged neonatal jaundice, Open mouth, Wide nasal...	OMIM:618437
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Patent ductus arteriosus, Short greater sciatic notch, Wide anter...	ORPHA:1860
Cousin Syndrome	Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract...	OMIM:260660
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Sandal gap, Hyposegmentation of neutrophil nuclei, Micromelia, Broad hallu...	OMIM:614800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I...	ORPHA:542323
Hydrolethalus	Retrognathia, Gingival cleft, Abnormal fallopian tube morphology, Postaxial hand polydactyly, Mic...	ORPHA:2189
Specc1L-Related Hypertelorism Syndrome	Short nose, Advanced eruption of teeth, Orofacial cleft, Clinodactyly of the 5th finger, Thin ver...	ORPHA:1519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Retinal atrophy, Short metacarpal, Severe short st...	ORPHA:85167
Congenital Disorder Of Deglycosylation 2	Sandal gap, Microtia, Hypothalamic hamartoma, High palate, Macroglossia, Retinal coloboma, Broad ...	OMIM:619775
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ...	OMIM:620376
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Anteverted nares, Abnormal pinna morphology, Abnormality of primary teeth, High palate, Short att...	ORPHA:438216
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Finger syndactyly, Delayed er...	ORPHA:1071
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Shortening of all distal phalanges of the fingers, Cleft palate, Broad nasal tip, Bro...	OMIM:614749
Mucopolysaccharidosis Type 2	Hyperactivity, Sensorineural hearing impairment, Temporomandibular joint ankylosis, Impulsivity, ...	ORPHA:580
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Everted lower lip vermilion, Arachnodactyly, Anomaly of lower limb diap...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Everted lower lip vermilion, Arachnodactyly, Anomaly of lower limb diap...	ORPHA:363958
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Severe intrauterine growth retardation, Action tremor, Short humerus, Abnormality o...	ORPHA:3455
Koolen-De Vries Syndrome	Hyperactivity, Prominent fingertip pads, Everted lower lip vermilion, Impulsivity, Intrauterine g...	OMIM:610443
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Short distal phalanx of finger	OMIM:277450
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of...	OMIM:601356
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Micrognathia, Recurrent pneumonia, Tented...	ORPHA:314655
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia, Flexion contracture	OMIM:619851
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Abnormal temper tantrums, Wide anterior fontanel, Low frustration tolerance, Low-set ...	ORPHA:457279
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Sensorineural hearing impairment, Low-set ears, Short stature, Fail...	OMIM:616430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Dental crowding, Thyroid hypoplasia, Internally rota...	OMIM:619503
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnorm...	ORPHA:309271
Campomelic Dysplasia	Fibular hypoplasia, Tibial bowing, Femoral bowing, Short long bone, Bowing of the long bones, Mal...	ORPHA:140
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Preaxial polydactyly, Hyperactivity, Low frustration tolerance, Stereot...	ORPHA:163681
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Sandal gap, Agenesis of permanent teeth, Short ear, Prominent inferi...	OMIM:618332
Dermotrichic Syndrome	Short nose, Anemia, Depressed nasal bridge	ORPHA:99688
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Short philtrum, Optic nerve hypoplasia, Mandibular prognathia, Short attention span...	OMIM:617864
White-Kernohan Syndrome	Short nose, Retrognathia, Recurrent otitis media, Rectovaginal fistula, Anteverted nares, Underde...	OMIM:619426
Lethal Congenital Contracture Syndrome 10	Convex nasal ridge, Long philtrum, Narrow palate, Hydrops fetalis, Torticollis, Fetal akinesia se...	OMIM:617022
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation	ORPHA:37202
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Limitation of joint mobility, Micromelia, Brachydactyly, Patent d...	ORPHA:93274
Campomelic Dysplasia	Disproportionate short-limb short stature, Dislocated radial head, Hypoplastic iliac wing, Femora...	OMIM:114290
Pseudoachondroplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Metaphyseal irregul...	OMIM:177170
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Slc39A8-Cdg	Osteopenia, Recurrent infections, Elbow flexion contracture, Failure to thrive in infancy, Limb u...	ORPHA:468699
Genitopatellar Syndrome	Clitoral hypertrophy, Hypoplastic ischia, Dysphagia, Small scrotum, Enlarged labia minora, Labial...	OMIM:606170
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Short nose, Small for gestational age, Stereotypical hand wringing	ORPHA:289266
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Short nose, Genu valgum, Retinal dystrophy, Cleft soft palate, Hypoplasia of the o...	OMIM:619321
Renal And Mullerian Duct Hypoplasia	Short nose, Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced uret...	OMIM:266810
Dend Syndrome	Short nose, Anteverted nares, Downturned corners of mouth, Elevated hemoglobin A1c, Long philtrum...	ORPHA:79134
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Hyperactivity, Sensorineural hearing impairment, Microtia, Hypoplasti...	OMIM:309580
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia, Uterus didelphys, Short ...	ORPHA:2491
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Short nose, Protruding ear, Hypospadias, Long philtrum,...	OMIM:618820
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia, Spina bifida, Hearing impa...	ORPHA:894
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu...	ORPHA:1836
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bifid scrotum, Arachnodactyly, Bifid uvula, Syndactyly, Septate vagina, Adducted...	ORPHA:261537
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Syndactyly, Umbilical h...	OMIM:612289
Metaphyseal Chondrodysplasia, Jansen Type	Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Metaphyseal cupping, Too...	OMIM:156400
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Aganglionic megacolon, Polyhydramnios, Hypospadias, Anteverted nares, Hea...	ORPHA:3339
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Long philtrum, Intrauterine growth retardation, ...	OMIM:617157
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:615630
Tetrasomy 18P	Thin vermilion border, Short nose, Narrow mouth, Large hands, Long philtrum	ORPHA:3307
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Anteverted nares, Microtia, Male pseudohermaphroditis...	ORPHA:2282
Meckel Syndrome, Type 9	Ambiguous genitalia, Limb undergrowth, Talipes equinovarus	OMIM:614209
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Wide mouth, Dysphagia, Prominent tragus, Anteverted nares, ...	ORPHA:280633
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Cachexia, Clubbing, Recurrent lower respiratory trac...	ORPHA:60033
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Trichothiodystrophy 1, Photosensitive	Short nose, Retrognathia, Triangular mouth, Recurrent infections, Decreased circulating IgG level...	OMIM:601675
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav...	ORPHA:101039
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hymen, Abnormal oral frenulum ...	ORPHA:1401
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Chronic sinusitis	OMIM:300455
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Talipes equinovarus, Tib...	OMIM:211350
Beckwith-Wiedemann Syndrome	Rhabdomyosarcoma, Abnormal earlobe morphology, Large intestinal polyposis, Premature birth, Wide ...	ORPHA:116
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Prolonged neonatal...	OMIM:210710
Müllerian Aplasia And Hyperandrogenism	Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Short stature, Obesity, Cle...	ORPHA:247768
C Syndrome	Dislocated radial head, Death in infancy, Long philtrum, Accessory oral frenulum, Low-set, poster...	ORPHA:1308
Geleophysic Dysplasia 2	Short nose, Hepatomegaly, Limitation of joint mobility, Short foot, Joint stiffness, Short palm, ...	OMIM:614185
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Sensorineural hearing impairment, Short stature, Shortening of...	OMIM:614207
Jaberi-Elahi Syndrome	Optic atrophy, Short nose, Triangular mouth, Tremor, Low-set ears, Failure to thrive, Dystonia, P...	OMIM:617988
Developmental And Epileptic Encephalopathy 89	Clitoral hypertrophy, Talipes equinovarus, Anteverted nares, Hypoplastic labia minora, Thin upper...	OMIM:619124
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Irritability, Recurrent otitis media, Hyperactivity, Depression, Mandib...	ORPHA:449291
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma...	ORPHA:968
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Non-midline cleft of the upper lip, Mandibula...	ORPHA:1908
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Short ribs, Flared iliac wing, Broad t...	OMIM:312870
Young-Onset Parkinson Disease	Agitation, Hyposmia, Depression, Tremor, Short attention span, Impulsivity, Frontal lobe dementia...	ORPHA:2828
Aymé-Gripp Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Microtia, Long philtrum, Breast hypoplasia,...	ORPHA:1272
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Hypospadias, Sensorineural hearing impairment, Low-set ears, High...	OMIM:300661
Thanatophoric Dysplasia, Type Ii	Flared metaphysis, Short greater sciatic notch, Short ribs, Hypoplastic ilia, Micromelia, Brachyd...	OMIM:187601
Complement Factor B Deficiency	Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections, Peritonitis	OMIM:615561
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Long philtrum, Hydrops fetalis, Polyhydramnios, Disp...	OMIM:200610
Monosomy 9P	Proximal placement of thumb, Microtia, Long philtrum, Hypospadias, Anteverted nares, Postaxial ha...	ORPHA:261112
Atypical Werner Syndrome	Rocker bottom foot, Reduced bone mineral density, Hypogonadism, Hepatic steatosis, Ovarian neopla...	ORPHA:79474
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Limb undergrowth, Flexion contracture, Small for gestational age	ORPHA:79243
Mowat-Wilson Syndrome	Sensorineural hearing impairment, Dental crowding, Bifid scrotum, Everted lower lip vermilion, Bi...	ORPHA:2152
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Coxa v...	OMIM:610682
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Wide anterior fontanel, Anteverted...	ORPHA:2021
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Mend Syndrome	Polydactyly, Hyperactivity, 2-3 toe syndactyly, Overfolded helix, Low-set ears, High palate, Bulb...	OMIM:300960
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Short nose, Micrognathia	ORPHA:1129
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Mesomelia, Radioulnar synostosis, Metatarsal...	OMIM:163400
Peters Plus Syndrome	Disproportionate short-limb short stature, Wide mouth, Umbilical hernia, Intrauterine growth reta...	ORPHA:709
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Abnormal fear-induced behavior, Depression, Confusion, Myeloproliferative disorder, Ab...	ORPHA:100924
Tay-Sachs Disease	Optic atrophy, Memory impairment, Depression, Tremor, Short attention span, Exaggerated startle r...	ORPHA:845
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis	ORPHA:36913
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ...	ORPHA:581
Ayme-Gripp Syndrome	Sensorineural hearing impairment, Microtia, Broad philtrum, Long philtrum, Craniofacial asymmetry...	OMIM:601088
Hypertrichosis Cubiti	Joint hypermobility, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Sensorineural he...	OMIM:602152
Zttk Syndrome	Short nose, Thin vermilion border, Patent ductus arteriosus, Short philtrum, High palate, Short f...	OMIM:617140
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Small epiphyses, Upper limb undergrowth, Retinal detachment, Short long bone, Flat a...	ORPHA:94068
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Short nose, Retrognathia, Anteverted nares, Growth delay, Macrotia, Hypoplasia of ...	OMIM:234050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Solitary median maxillary central incisor, Dental crowding, Contracture of the prox...	OMIM:301044
Mucopolysaccharidosis, Type Iiid	Hyperactivity, Broad alveolar ridges, Wide mouth, Dysphagia, Splenomegaly, Aggressive behavior, A...	OMIM:252940
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Recurrent otitis media, Disproportionate short-limb short st...	OMIM:250420
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Protruding tongue, Failure to thrive, Recurrent pneumonia, Promi...	OMIM:619179
Frontofacionasal Dysplasia	Short nose, Encephalocele, Dimple on nasal tip, Non-midline cleft of the upper lip, Bifid nasal t...	ORPHA:1791
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Abnormal pinna morphology, Abnormal helix ...	ORPHA:158687
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
Cornelia De Lange Syndrome 6	Short nose, Long philtrum, Clinodactyly of the 5th finger, Hair-pulling, Anteverted nares, Low-se...	OMIM:620568
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bifid scrotum, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly,...	ORPHA:261552
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Polyhydramnios, Short long bone, Femoral bowing, Acetabular spurs, Postaxia...	OMIM:615503
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Sensorineural hearing impairment, Everted lower lip ve...	ORPHA:904
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Oral leukoplakia, Reduced natural k...	OMIM:620133
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Anemia, Short philtrum, Short long bone, Schistocytosis, Downturned corners of mout...	OMIM:301110
Incontinentia Pigmenti	Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat...	OMIM:308300
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Splenic cyst, Anteverted nares, Short long bone, Femoral bowing, Metaphyseal spur...	OMIM:618188
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,...	OMIM:608800
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Intrauterine growt...	OMIM:139210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Hypospadias, Small pituitary gland, Bowed humerus, Disproportionate short-li...	OMIM:619479
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response, Hearing impairment, Thick vermilion border, Open mouth,...	OMIM:620114
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge	ORPHA:2835
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Macrocytic anemia, Hyperactivity, Low-set ears, Short stature, Growth dela...	OMIM:614294
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Hypoplastic labia minora, Micromelia, Abnormal s...	ORPHA:64755
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Short philtrum, Hyperactivity, Everted lower lip vermilion, Exaggerated startle re...	OMIM:617281
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Chorioretinitis, Bowin...	ORPHA:199276
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Cleft palate, Natal tooth, Short philtrum	OMIM:617337
Ramon Syndrome	Narrow palate, Enlarged labia minora, Gingival fibromatosis, Delayed eruption of teeth, Decreased...	OMIM:266270
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Oral leukoplakia	OMIM:167210
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Low-set ears, Narrow mouth, Cognitive impairment, Failure to thrive...	OMIM:613735
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Hepatomegaly, Acrome...	ORPHA:404454
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Defective production of NFKB1-dependent cytokines, Conical tooth, Failure to thrive...	OMIM:612132
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomegaly, Bullet-shaped...	OMIM:252500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge	ORPHA:1861
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Microtia, Femoral bowing, Dysphagia, Median pseudocleft lip, Intrauterine growth re...	OMIM:616462
Noonan Syndrome 3	Short nose, Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Anteverted nares, High pa...	OMIM:609942
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finge...	ORPHA:3342
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Bifid uvula, Absent thumb, Joint hypermobility, Patent ductus arteriosus after bi...	ORPHA:500150
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnorm...	ORPHA:309263
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge...	ORPHA:319675
Asparagine Synthetase Deficiency	Decreased fetal movement, Irritability, Optic nerve hypoplasia, Prominent nasal tip, Tremor, Exag...	OMIM:615574
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Postaxial hand polydactyl...	ORPHA:93271
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Mesome...	OMIM:616482
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Abnormal pinna morphology, Abnormal forearm bone morphology, Splay...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Abnormal pinna morphology, Abnormal forearm bone morphology, Splay...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Abnormal pinna morphology, Abnormal forearm bone morphology, Splay...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Abnormal pinna morphology, Abnormal forearm bone morphology, Splay...	ORPHA:881
Burkitt Lymphoma	Neoplasm of the oral cavity, Abnormality of the spleen, Decreased proportion of CD4-positive help...	ORPHA:543
Microphthalmia, Syndromic 1	Radial deviation of finger, Dental crowding, Abnormal pinna morphology, Prominent fingertip pads,...	OMIM:309800
Pallister-Killian Syndrome	Aplasia of the uterus, Everted lower lip vermilion, Bifid uvula, Wide mouth, Umbilical hernia, Sm...	OMIM:601803
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Thin vermilion border, Agitation, Truncal titubation, Clinodactyly of the 5th finger, Tremor, Hig...	OMIM:618056
Tetrasomy 9P	Abnormal earlobe morphology, Abnormal number of permanent teeth, Hyperactivity, Dental crowding, ...	ORPHA:3310
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Glossoptosis, Long philtrum, Fibular ...	ORPHA:444077
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Chromosome 3Q29 Duplication Syndrome	Short nose, Obesity, Bulbous nose, Wide nasal bridge	OMIM:611936
Ovarian Fibroma	Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ova...	ORPHA:314473
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment, Intrauterine growth retardation, Crypto...	OMIM:620327
Cadds	Short nose, Sensorineural hearing impairment, Micrognathia, Dystonia, Intrauterine growth retarda...	ORPHA:369942
Okamoto Syndrome	Polydactyly, Short nose, Anteverted nares, Underdeveloped nasal alae, Open bite, Exaggerated medi...	ORPHA:2729
African Trypanosomiasis	Irritability, Optic neuritis, Miscarriage, Infertility, Tremor, Impotence, Abnormal prolactin lev...	ORPHA:3385
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
1P21.3 Microdeletion Syndrome	Short nose, Long ear, Excessive shyness, Obesity, Micrognathia, Broad nasal tip, Wide mouth, Self...	ORPHA:293948
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Arachnodactyly, Intrauterine growth retardation, Oligohydramnios, Polydactyly, Bre...	ORPHA:464306
Radio-Renal Syndrome	Hypoplasia of the radius, Retrognathia, High, narrow palate, Micromelia, Short palm, Downturned c...	ORPHA:3015
Fraser Syndrome	Abnormal vagina morphology, Hypoplasia of penis, Dental crowding, Small scrotum, Hypospadias, Cle...	ORPHA:2052
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short stature, Growth delay, Cl...	ORPHA:370930
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Femoral retroversion, Micromelia, Hypoplastic scapulae, Macroglossia	ORPHA:79107
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Long philtrum, Retinal detachment, Low-set ears, High palate, Narrow mouth, Hearing i...	OMIM:601776
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ...	OMIM:605274
Dyschondrosteosis-Nephritis Syndrome	Ulnar bowing, Microdontia, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Exaggera...	OMIM:616881
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip, 2-3 toe syndactyly, Equinus calcaneus, Dystonia, Motor stereotyp...	ORPHA:522077
Sotos Syndrome	Chronic otitis media, Agenesis of permanent teeth, Neoplasm, Umbilical hernia, Aggressive behavio...	ORPHA:821
Sandhoff Disease	Death in childhood, Progressive psychomotor deterioration, Orthostatic hypotension, Impotence, Ex...	OMIM:268800
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Short ribs, Short metacarpal, Abnormal forearm bone morphology, Short humer...	ORPHA:3404
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Recurrent otitis media, Disproportionate short-limb short...	ORPHA:2502
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl...	OMIM:608643
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Hypoplastic iliac wing, Small earlobe, Short long bone, Tibial bowing, Short lower limbs, Metaphy...	ORPHA:93315
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor...	ORPHA:199310
Intellectual Developmental Disorder, Autosomal Dominant 54	Irritability, Fetal distress, Widely spaced teeth, Neutropenia, Dental crowding, Short stature, G...	OMIM:617799
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Self-mutilation, Bifid uvula, Dysphagia, Long philtru...	OMIM:607872
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Ovarian Fibrothecoma	Fibrosarcoma, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal...	ORPHA:314478
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Abnormal circulating interleukin concentration, Increased serum bile acid con...	ORPHA:69665
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Subependymal nodules, Pheochromocytoma, Hyperactivity, Impulsivity, Pituitar...	ORPHA:805
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Hypoplastic ni...	OMIM:305100
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Mandibular prognathia, Short long bone, Split hand, Retinopathy, Short st...	OMIM:252600
Williams-Beuren Syndrome	Microdontia, Long philtrum, Joint hypermobility, Anteverted nares, Osteoporosis, Portal hypertens...	OMIM:194050
Woodhouse-Sakati Syndrome	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Protruding ear, Decre...	ORPHA:3464
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Large for gestational age, Large placenta, Polyhydramnios, Umbilica...	ORPHA:254534
Early Infantile Epileptic Encephalopathy	Short finger, Broad finger, Hyperactivity, Broad phalanx of the toes, Anteverted nares, Tremor, P...	ORPHA:1934
Primary Hyperoxaluria	Rootless teeth, Abnormality of the dentition, Generalized osteosclerosis, Abnormal dental pulp mo...	ORPHA:416
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Lingual dystonia, Abn...	ORPHA:2388
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hyperactivity, Anteverted nares, Gingival overgrowth, Exaggerated startl...	OMIM:620423
Schisis Association	Cleft palate, Unilateral cleft lip, Small for gestational age, Micromelia	ORPHA:63862
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Recurrent infections, Abnormal dental enamel morphology, Oligodactyly, Ectrodactyly, A...	ORPHA:2273
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Spastic Tetraplegia And Axial Hypotonia, Progressive	Polyhydramnios, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Overlapping...	OMIM:618598
Cerebrofaciothoracic Dysplasia	Short nose, Polyhydramnios, Low-set, posteriorly rotated ears, Wide nose, Short stature, Cleft up...	ORPHA:1394
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Decreased nerve conduction velocity, Abnormal social behavior, Emotional lability,...	ORPHA:309256
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Narrow nari...	OMIM:122880
17Q11 Microdeletion Syndrome	Delayed puberty, Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Gastrointestinal ...	ORPHA:97685
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Microtia, Microdontia, Bilateral triphalangeal thumbs, Absent radius, D...	OMIM:149730
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Irritability, Growth delay, Neonatal death, Opisthotonus, Thick vermilion border, Lon...	OMIM:252160
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Mowat-Wilson Syndrome	Recurrent otitis media, Widely spaced teeth, Hypospadias, Aganglionic megacolon, Low hanging colu...	OMIM:235730
Early-Onset Autosomal Dominant Alzheimer Disease	Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti...	ORPHA:1020
Maternal Phenylketonuria	Long philtrum, Deviated nasal septum, Hypoplastic helices, Hyperactivity, Anteverted nares, High ...	ORPHA:2209
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Aplasia of the vagina, Hyperactivity, Optic nerve hypoplasia, Ant...	ORPHA:457284
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Cog1-Cdg	Postnatal growth retardation, Rhizomelia, Low-set, posteriorly rotated ears, Microtia, Short long...	ORPHA:263508
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Patellar hypoplasia, Talipes equinovarus, Bifid nasal tip, Cryptorchi...	OMIM:603671
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Recurrent infections, Failure to ...	OMIM:617718
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Short ribs, Micromelia, Postaxial polydactyly, Cleft palate, Accessory oral...	OMIM:616546
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly	OMIM:600092
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Short umbilical cord, Exaggerated startle response, Short stature, Nuchal cord, Sho...	OMIM:618367
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Anemia, Exaggerated startle response, Stereotypical hand wringing, Precocious puber...	ORPHA:438213
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, Hyperactivity, Short ear, Long philtrum, Aggressive behavior, 2-3 t...	OMIM:614756
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Narcolepsy 1	Narcolepsy	OMIM:161400
Narcolepsy 3	Narcolepsy	OMIM:609039
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Pituitary adenoma, A...	OMIM:219090
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormal emotion, Anemia, Abnormal hip bone morphology, Nail-biting, Hyperactivity, Self-mutilati...	ORPHA:642
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Exaggerated startle response, Optic disc pallor	OMIM:609541
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Mental deterioration, Depression, Tremo...	OMIM:234200
Stiff-Person Syndrome	Depression, Opisthotonus, Anemia, Exaggerated startle response	OMIM:184850
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Hip dislocation	OMIM:149400
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Low insertion of columella, Low-set ears, Exaggerated startle response, Prominent ...	OMIM:620451
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Exaggerated startle response, Optic disc pallor	ORPHA:320406
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Decreased nerve conduction velocity, Retinal dystrophy, Sensorineural ...	OMIM:614863
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in females, Bone cyst, Mandibul...	ORPHA:528
Scalp-Ear-Nipple Syndrome	Recurrent urinary tract infections, Abnormality of the dentition, Breast aplasia, Delayed eruptio...	ORPHA:2036
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Encephalocele, Retinal dysplasia, Retinal detachment, Exaggerated startle response	OMIM:253800
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Abnormal social behavior, Punding, Depression	ORPHA:64280
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries	ORPHA:2795
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Exaggerated startle response	OMIM:618201
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Complement Component 5 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:609536
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, Orofacial cleft, Frontal cutaneous lipoma, Hypoplasia of ...	OMIM:229400
Developmental And Epileptic Encephalopathy 8	Death in childhood, Exaggerated startle response	OMIM:300607
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Growth delay, Opisthotonus, Thick vermilion border, Long philtrum	OMIM:252150
Lipodystrophy, Familial Partial, Type 7	Short nose, Orthostatic hypotension, Narrow nasal ridge, Low-set ears, Narrow mouth, Failure to t...	OMIM:606721
Hyperekplexia 3	Meconium stained amniotic fluid, Ventouse delivery, Exaggerated startle response	OMIM:614618
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Hyperekplexia 2	Increased fetal movement, Exaggerated startle response	OMIM:614619
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Abnormality of the middle...	ORPHA:722
Penile Agenesis	Short nose, Absent penis, Posteriorly rotated ears, Fetal pyelectasis, Ambiguous genitalia, Crypt...	ORPHA:49
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Patent Urachus	Cystocele, Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341

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 Fos

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Fos.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Fos ensembles encode and shape stable spatial maps in the hippocampus.	Nature (August 2022)	Fosb^{tm1c(KOMP)Wtsi}	PMC9452297
Bidirectional perisomatic inhibitory plasticity of a Fos neuronal network.	Nature (December 2020)	Fosb^{tm1c(KOMP)Wtsi}	PMC7864877
AP-1 Transcription Factors and the BAF Complex Mediate Signal-Dependent Enhancer Selection.	Molecular cell (December 2017)	Fosb^{tm1c(KOMP)Wtsi} Fosb^{tm1a(KOMP)Wtsi}	29272704

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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
Fos^{tm380306(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fos^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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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Gene: Fos MGI:95574

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E18.5

MicroCT E18.5

Human diseases caused by Fos mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data