banner
Genes Phenotypes Help, News, Blog

Gene: Fos MGI:95574

Log in to follow

Gene Summary

Name:
FBJ osteosarcoma oncogene
Synonyms:
cFos,  c-fos,  D12Rfj1

Order Alleles

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 System Allele Zyg Sex Life Stage P Value
no spontaneous movement Fosem1(IMPC)Mbp HOM E18.5 0.00
abnormal facial morphology Fosem1(IMPC)Mbp HOM E18.5 0.00
increased total body fat amount Fosem1(IMPC)Mbp HET Early adult 2.28×10-05
preweaning lethality, incomplete penetrance Fosem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Fosem1(IMPC)Mbp HOM E18.5 0.00
decreased lean body mass Fosem1(IMPC)Mbp HET Early adult 3.33×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Morphology Embryo E18.5

Images

4 Images

View images
Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

8 Images

View images

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Generalized Lipodystrophy
Oligomenorrhea, Macroglossia, Polycystic ovaries, Clitoral hypertrophy, Precocious puberty in fem... ORPHA:528

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Calvarial osteosclerosis, Thickened cortex of long b... OMIM:607634
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... ORPHA:1802
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Mandibular progna... OMIM:259710
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures, Mand... OMIM:166600
Osteoglosphonic Dysplasia
Craniosynostosis, Multiple unerupted teeth, Cryptorchidism, Tooth agenesis, Rhizomelia, Failure t... ORPHA:2645
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Trichodentoosseous Syndrome
Increased bone mineral density, Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Femur fracture, Ca... OMIM:259700
Eiken Syndrome
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... OMIM:600002
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Hepatomegaly, Rec... OMIM:612840
Osteoglophonic Dysplasia
Camptodactyly of finger, Short thumb, Short metatarsal, Rhizomelia, Choanal atresia, Broad thumb,... OMIM:166250
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... OMIM:265900
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Abnormality ... ORPHA:2204
Immunodeficiency 24
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... OMIM:615897
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel hypomineralization, Micr... ORPHA:3352
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Diaphyseal ... ORPHA:3416
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections, T ... OMIM:242870
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu... ORPHA:2790
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Chondritis, Ab... ORPHA:564003
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Desmosterolosis
Increased bone mineral density, Retrognathia, Bifid uvula, Ambiguous genitalia, Short nose, Submu... ORPHA:35107
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Craniosynostosis, Recurrent sinopulmonary infections, High palate, Increased circulating IgE leve... OMIM:147060
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Prelingual sensorineural hearing impairment, Small for gestational age, Severe p... ORPHA:73272
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Retrognathia, Abnormal metaphysis morphology, Bifid uvula, Facial... ORPHA:2780
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis, Wide nasal bridge, Depr... ORPHA:1522
Dentinogenesis Imperfecta
Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho... ORPHA:49042
Otopalatodigital Syndrome, Type I
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... OMIM:311300
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... OMIM:613501
Familial Osteodysplasia, Anderson Type
Long nose, Tooth malposition, Abnormal cortical bone morphology, Depressed nasal ridge, Malar fla... ORPHA:2769
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrow... ORPHA:166277
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Osteopet... OMIM:611490
Ck Syndrome
High palate, Retrognathia, Abnormal cortical bone morphology, Slender build, Prominent nasal brid... OMIM:300831
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... ORPHA:2972
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormality of fibula morphology, Hip dysplasia, Tooth agenesis, Abnormal palate ... ORPHA:2063
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Pear-shaped nose, Avascular necrosis of the capital femoral epiphysis, Coxa magna, ... OMIM:190351
Specific Granule Deficiency 2
Conical tooth, Absent neutrophil specific granules, Tooth malposition, Anemia, Sepsis, Neutropeni... OMIM:617475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, High palate, Increased circulating IgE level, Chronic mucocutane... OMIM:619752
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis OMIM:620366
17Q21.31 Microduplication Syndrome
Delayed puberty, High palate, Abnormality of the dentition, Malar flattening, Short nose, Attenti... ORPHA:217340
Marbach-Rustad Progeroid Syndrome
Reduced bone mineral density, Eruption failure, Femur fracture, Short clavicles, Narrow mouth, Sm... OMIM:619322
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metatropic Dysplasia
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Joint... ORPHA:2635
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Abnormal cortical bone morphology, Bifid uvula, Facial hyperostosis, Choanal atr... ORPHA:2658
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... OMIM:259720
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Dental malocclusi... OMIM:259730
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Cernunnos-Xlf Deficiency
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... ORPHA:169079
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Carious teeth, Increased bone dens... OMIM:136300
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Anemia, Femur fracture, Decreased circulating IgA level, Hepatom... OMIM:612301
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth, Osteoporosis ORPHA:71267
Proteus Syndrome
Calvarial hyperostosis, Open mouth, Facial hyperostosis, Mandibular hyperostosis, Thin bony corte... OMIM:176920
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... ORPHA:79106
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
Grant Syndrome
Abnormal palate morphology, Abnormal cortical bone morphology, Bowing of the long bones, Abnormal... ORPHA:2097
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... OMIM:144750
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Depressed nasal bridge, Decreased proportion of CD8-positive, al... OMIM:619824
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Broad jaw ORPHA:178377
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Tooth malposition, Failure of eruption of permanent teeth, High, narr... ORPHA:3238
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Increased circulating IgE level, Lymphopenia, Failure to thrive, Sinusitis, Recur... ORPHA:277
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ba... OMIM:612692
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Recurrent... ORPHA:476126
Immunodeficiency 12
Absent isohemagglutinin level, Clubbing, Abnormal lymphocyte count, Recurrent viral infections, R... OMIM:615468
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:613500
Cleidocranial Dysplasia
Cleft palate, Supernumerary tooth, Decreased skull ossification, Carious teeth, Brachydactyly, Co... ORPHA:1452
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent herpes, Chronic oral candid... ORPHA:276
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... ORPHA:53697
Immunodeficiency 102
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... OMIM:301082
Intellectual Developmental Disorder, X-Linked 91
High palate, Short nose, Macrodontia, Short 5th finger, Small hand, Clinodactyly, Short foot, Obe... OMIM:300577
Acrodysostosis
Short metatarsal, Micromelia, Short toe, Epiphyseal stippling, Abnormal morphology of ulna, Hypop... ORPHA:950
Pitt-Hopkins Syndrome
Tooth malposition, Short metatarsal, Cryptorchidism, Micropenis, Triangular nasal tip, Finger cli... ORPHA:2896
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... OMIM:613502
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis... ORPHA:85188
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate OMIM:600252
Gorham-Stout Disease
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Meningitis, Mandibular... ORPHA:73
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth ORPHA:2222
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent respiratory infections, Reduced bone mineral density, Abnormal metaph... ORPHA:667
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... ORPHA:572
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... OMIM:310350
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Dense metaphyseal bands, Failure to thrive, Clavicular sclerosis,... OMIM:615198
48,Xxyy Syndrome
Chronic otitis media, Hip dysplasia, Cleft palate, Abnormal shoulder morphology, Carious teeth, T... ORPHA:10
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, High palate, Retrognathia, Depressed nasal bridge, Short nose, D... OMIM:614069
Chung-Jansen Syndrome
High palate, Cryptorchidism, Meconium stained amniotic fluid, Hip dysplasia, Anxiety, Short nose,... OMIM:617991
Odontochondrodysplasia 1
Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing, Cone-shaped epiphyses of... OMIM:184260
Zimmermann-Laband Syndrome
Macroglossia, High palate, Hallux valgus, Bifid uvula, Hepatomegaly, Gingival fibromatosis, Abnor... ORPHA:3473
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... OMIM:313500
Immunodeficiency, Common Variable, 2
Meningitis, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent ba... OMIM:240500
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Failure to thrive, Recurrent ot... OMIM:616022
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Hip dysplasia, Abnormal metaphysis morphology, Short nose, Abnormal... ORPHA:2370
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... OMIM:605258
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short distal phalanx of finger, Oligodontia, Depressed nasal brid... ORPHA:90650
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Small for gestational age, Cryptorchidism, Low-set ears, Polydactyly, Microphallus,... ORPHA:397590
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Micrognathia, Decreased body weight, Clinodactyly ... OMIM:617306
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Osteoporosis, Short metacarpal, Short metatarsal, Enamel hypop... OMIM:612463
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Increased circulating antibody level, Anemia, Osteoporosis, He... ORPHA:100024
Greenberg Dysplasia
Rhizomelia, Micromelia, Anterior rib punctate calcifications, Decreased skull ossification, Micro... ORPHA:1426
Odontochondrodysplasia
Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Short nose, Coxa valga, Microme... ORPHA:166272
Pseudoachondroplasia
Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,... ORPHA:750
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased circulating IgA level, Recurrent viral infectio... OMIM:618048
Immunodeficiency 51
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Abnormal lymphocyte morpholo... OMIM:613953
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Limitation of joint mobility, Micrognathia, Hypoplasia of the... ORPHA:3145
49,Xxxxy Syndrome
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... ORPHA:96264
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Short distal phalanx of finger, Abnormality of the dentition, Abnorma... ORPHA:53
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Carious teeth, Increased susc... ORPHA:763
Diastrophic Dysplasia
Short finger, Increased bone mineral density, Camptodactyly of finger, Cryptorchidism, Ulnar devi... ORPHA:628
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocy... OMIM:607624
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... ORPHA:63442
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Malar flattening, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micr... OMIM:118651
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:606843
Acrootoocular Syndrome
Grayish enamel, Short toe, Supernumerary tooth, Pseudopapilledema, Small for gestational age, Con... ORPHA:2980
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:308230
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Abnormal mandible morphology, Natal tooth, Cleft palate OMIM:217150
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:158061
Vitamin D-Dependent Rickets, Type 2A
Rickets, Secondary hyperparathyroidism, Bulging epiphyses, Enamel hypoplasia, Failure to thrive, ... OMIM:277440
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal nasal morphology, Mandibular prognathia, Hepatomegaly, Cachex... ORPHA:1133
48,Xxxy Syndrome
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... ORPHA:96263
Immunodeficiency 110 With Lymphoproliferation
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... OMIM:614868
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, Camptodactyly of finger, Cryptorchidism, Tooth agenesis, High palate... ORPHA:2863
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Abnormal lo... ORPHA:166119
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Premature loss of teeth, Recurrent viral infections, Recurren... ORPHA:486
Craniodiaphyseal Dysplasia, Autosomal Dominant
Concave nasal ridge, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis... OMIM:122860
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Hepatomegaly, Narrow mouth, Thick lower lip vermilion, Leukopenia, Prominence ... ORPHA:2785
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Sclerosis of foot bone, Tibiofibular diastasis, Knee osteoarthri... ORPHA:566943
Cleidocranial Dysplasia 2
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... OMIM:620099
Cerebrooculofacioskeletal Syndrome 1
Second metatarsal posteriorly placed, Rocker bottom foot, Thin vermilion border, Carious teeth, J... OMIM:214150
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Metaphyseal widening, Increased skull ossifica... OMIM:618476
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo... ORPHA:970
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... ORPHA:331206
Elsahy-Waters Syndrome
Bifid uvula, Shortening of all phalanges of fingers, Supernumerary tooth, Bilateral cryptorchidis... OMIM:211380
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Delayed eruption of teeth, Osteopenia OMIM:619489
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis, Limb undergrowth, Flared elbow metaphyses, Micromelia, ... ORPHA:1423
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad nasal tip, Decreased specific antibody response to vaccination, Decreased circulating total... ORPHA:221139
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Multiple impacted teet... OMIM:113300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Cervical lymphadenopathy, Fail... OMIM:618987
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, High palate, Bifid uvula, Flattened epiphysis, Dislocated radial head, S... OMIM:612350
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Abnormality of dental morphology, Gingival fibromatosis, Everted lower lip vermilion... ORPHA:2025
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Cervical lymphadenopat... OMIM:618534
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Anemia, Hepatomegaly, Arthritis, Increased circulat... ORPHA:37748
Familial Expansile Osteolysis
Premature loss of teeth, Osteolysis, Fragile teeth, Pathologic fracture, Thin bony cortex, Bowing... OMIM:174810
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, De... OMIM:616005
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Decreased proportion of CD3-positive T cells, Recurrent aphthous stom... ORPHA:275
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Recurrent bacterial infections, Slender long bone, Congenital h... OMIM:244460
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... OMIM:608106
Acrocephalopolydactyly
Hepatosplenomegaly, Limb undergrowth, Short nose, Short long bone, Depressed nasal ridge, Brachyd... ORPHA:221054
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Recurrent respiratory infections, Hip ... ORPHA:2484
Bent Bone Dysplasia Syndrome 1
Hepatosplenomegaly, Coronal craniosynostosis, Malar flattening, Clitoral hypertrophy, Short clavi... OMIM:614592
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... OMIM:300310
Pierpont Syndrome
Broad nasal tip, Widely spaced teeth, Hearing impairment, Prominent median palatal raphe, Short t... OMIM:602342
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Recurrent bacterial infections, Decreased circu... OMIM:193670
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... ORPHA:2228
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... OMIM:619795
Caffey Disease
Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di... ORPHA:1310
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Chronic mucocutaneous candidiasis, Hepatomeg... OMIM:608971
Trichorhinophalangeal Syndrome Type 2
Hip dysplasia, Protruding ear, Supernumerary tooth, Thick nasal alae, Cone-shaped epiphyses of th... ORPHA:502
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Limb undergrowth, Capitate-hama... OMIM:614078
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Cleft palate, Hearing impairment, Thick lower lip vermilion, Brac... OMIM:614607
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft palate, Cleft upper lip, Low-set, posteriorly rotated ears, Crypto... ORPHA:915
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Recurrent fungal infections, B lymphocytopenia, Reduced red cell adenosine deaminas... OMIM:102700
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, High palate, Malar flattening, Osteoporosis, Bowing of the arm, Narrow ... OMIM:613849
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Reduced natural killer cell activity, Recurrent lower respiratory tract infections,... OMIM:615559
Rothmund-Thomson Syndrome
Selective tooth agenesis, Short thumb, Abnormal trabecular bone morphology, Supernumerary tooth, ... ORPHA:2909
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Sepsis, Wide anterior fontanel, Abnormality of the male genita... OMIM:614886
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... OMIM:212050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... OMIM:615513
Sponastrime Dysplasia
Hip dislocation, Generalized joint laxity, Rhizomelia, Metaphyseal irregularity, Flattened humera... ORPHA:93357
Trisomy 9P
Abnormal nasal morphology, Dental crowding, Brachydactyly, Downturned corners of mouth, Non-midli... ORPHA:236
Temple-Baraitser Syndrome
Short distal phalanx of finger, Broad thumb, Short phalanx of the thumb, Thick nasal alae, Triang... ORPHA:420561
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Anemia, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel ... ORPHA:2325
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, High palate, Flattened epiphysis, Flat acetabular roof, Wide ante... ORPHA:163649
Teebi Hypertelorism Syndrome 2
High palate, Broad nasal tip, Short nose, Attention deficit hyperactivity disorder, Syndactyly, M... OMIM:619736
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Smooth philtrum, Thick lower lip vermilion, Overjet, Wide nasal bridge, Thick ver... OMIM:618342
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymphadenitis,... ORPHA:911
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... OMIM:600785
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Ollier Disease
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Precocious puberty, Multiple... ORPHA:296
Selective Igm Deficiency
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... ORPHA:331235
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga, Hepatomegaly, Sea-bl... OMIM:230600
T-Cell Immunodeficiency With Thymic Aplasia
Severe infection, Chronic oral candidiasis, Decreased proportion of naive T cells, Severe viral i... ORPHA:83471
Ramon Syndrome
Osteolysis, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, Abnormal dental enam... ORPHA:3019
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Acromicric Dysplasia
Joint stiffness, Short nose, Short metacarpal, Abnormal epiphysis morphology, Anteverted nares, N... ORPHA:969
Gardner Syndrome
Adrenocortical adenoma, Congenital hypertrophy of retinal pigment epithelium, Astrocytoma, Piloma... ORPHA:79665
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Cryptorchidism, Micropenis, Malar flattening, Obesity, Short nose, Short colume... ORPHA:171839
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Tooth agenesis, Mesomelia, Abnormal shoulder morphology, Convex nasal... ORPHA:1277
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Secondary hyperparathyroidism, Bulging epiphyses, Enamel hypoplasia, Failure to thrive, ... OMIM:264700
Opsismodysplasia
Recurrent respiratory infections, Abnormal metaphysis morphology, Joint stiffness, Hypoplastic ve... ORPHA:2746
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... OMIM:619437
Hennekam Syndrome
Camptodactyly of finger, Tooth agenesis, Narrow mouth, Supernumerary tooth, Pulmonary lymphangiec... ORPHA:2136
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections, Abnor... OMIM:308220
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularit... OMIM:301078
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Metaphyseal irregularity, Short dental root, Small epiphyses, Flat capital femoral ep... OMIM:271510
Non-Distal Duplication 10Q
High palate, Cryptorchidism, Low-set, posteriorly rotated ears, Cognitive impairment, Short nose,... ORPHA:1695
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, BCGitis, Increased circulating IgE level, Sepsis, He... OMIM:602450
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Carpenter Syndrome 1
Agenesis of permanent teeth, Polysplenia, Preaxial foot polydactyly, Aplasia/Hypoplasia of the mi... OMIM:201000
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Reduced natural killer cell activity, Chronic oral candidiasis, Impaired ADP-induce... OMIM:608233
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Dysostosis, Stanescu Type
Macroglossia, Increased bone mineral density, Abnormality of the dentition, Tooth agenesis, Abnor... ORPHA:1798
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Concave nasal ridge, Recurrent respiratory infections, Recurrent viral infect... OMIM:606367
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Limited elbow extension, Broad nasal tip, Vertebral fusion, Capitate-hamate... OMIM:272460
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Malar flattening, Short ribs, Advanced ossification of carpal bones, ... OMIM:215045
Clark-Baraitser Syndrome
High palate, Low-set ears, Depressed nasal bridge, Hyperactivity, Anxiety, Exaggerated cupid's bo... OMIM:617752
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... ORPHA:169154
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent herpes, Failure to thrive, Recurrent Klebsiella... OMIM:614372
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... OMIM:618982
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Pu... OMIM:601457
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Spinocerebellar Ataxia, Autosomal Recessive 20
Macroglossia, Camptodactyly, High palate, Wide nasal base, Broad philtrum, Hepatomegaly, Dental c... OMIM:616354
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Premature loss of teeth, Joint stiffness, Mandibular prognat... ORPHA:137834
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Micrognathia,... ORPHA:1486
Gapo Syndrome
Eruption failure, Breast hypoplasia, Hypoplastic nipples, Wide anterior fontanel, Short nose, Hep... OMIM:230740
Macrocephaly/Autism Syndrome
High palate, Large for gestational age, Depressed nasal bridge, Penile freckling, Recurrent infec... OMIM:605309
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Joint stiffness, Limb undergrowth, Abnormal dental enamel morphol... ORPHA:2107
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Disseminated molluscum conta... OMIM:243700
Alazami-Yuan Syndrome
High palate, Cryptorchidism, Prominent nasal bridge, Hyperactivity, Underdeveloped nasal alae, Sh... OMIM:617126
Pgm3-Cdg
Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T cells, Recurrent fung... ORPHA:443811
Craniometaphyseal Dysplasia, Autosomal Recessive
Bony paranasal bossing, Patchy sclerosis of finger phalanx, Facial hyperostosis, Mandibular progn... OMIM:218400
Autosomal Recessive Omodysplasia
Craniosynostosis, Depressed nasal bridge, Cryptorchidism, Abnormal metaphysis morphology, Rhizome... ORPHA:93329
Immunodeficiency 33
Increased circulating IgA level, Conical tooth, Decreased circulating total IgM, Recurrent bacter... OMIM:300636
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Open mouth, Broad nasal tip, Retrognathia, Malar flattening, Failure to thrive in infancy, Anxiet... OMIM:613670
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Malar flattening, Obesity, Short metatarsal, Advanced ossification of carpal bone... OMIM:614613
Desbuquois Dysplasia 1
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... OMIM:251450
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Coronal craniosynostosis, Extramedullary hematopoiesis, Clitoral hypertrophy,... ORPHA:313855
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent bac... ORPHA:2688
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
High palate, Depressed nasal bridge, Hip dysplasia, Limb undergrowth, Knee flexion contracture, S... OMIM:616809
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Self-mutilation, Cryptorchidism, Decreased fetal movement, Genu varum, Hyperactivity, Mandibular ... OMIM:604317
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... OMIM:613495
Distal Duplication 18Q
Deviation of finger, Camptodactyly of finger, Cryptorchidism, High palate, Low-set, posteriorly r... ORPHA:1716
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Rec... OMIM:618986
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Abnorma... OMIM:613179
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Restlessness, Short nose, Irritability, Failure to thrive, Narrow nasal bridge, Se... OMIM:618379
Pseudohypoparathyroidism, Type Ia
Short finger, Hypogonadism, Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Pseudohypo... OMIM:103580
11Q22.2Q22.3 Microdeletion Syndrome
Hemangioma, Low-set ears, Obesity, Anxiety, Posteriorly rotated ears, Attention deficit hyperacti... ORPHA:444002
14Q11.2 Microdeletion Syndrome
High palate, Deep philtrum, Short nose, Everted lower lip vermilion, Toe syndactyly, Narrow mouth... ORPHA:261120
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Refractory anemia, Throm... OMIM:231095
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... ORPHA:1028
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... OMIM:619707
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Agitation, Widely spaced teeth, Hearing impairment, Camptodactyly, Cryptorchidism, Short nose, Do... ORPHA:369891
Trichorhinophalangeal Syndrome, Type I
Short metatarsal, Coxa magna, Osteoarthritis, Narrow palate, Carious teeth, Flat capital femoral ... OMIM:190350
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Bilateral cryptorchidism, Thin vermilion border, Large earlobe, Brachydactyly, ... ORPHA:485405
Catifa Syndrome
Camptodactyly, Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of tee... OMIM:618761
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Recurrent respiratory infections, Abnormality of the dentition, Increased circu... ORPHA:2314
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, High palate, Abnormal diaphysis morphology, Malar flattening, Wid... ORPHA:85184
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Hearing impairment, Short toe, Cone-shaped epiphysis, Short phalanx of finger, ... ORPHA:439822
Diabetes Insipidus, Neurohypophyseal
Short nose, Osteopenia, Wide nose, Long philtrum, Central diabetes insipidus OMIM:125700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Retrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shor... OMIM:249710
Codas Syndrome
Extrahepatic biliary duct atresia, Midline defect of the nose, Congenital hip dislocation, Short ... ORPHA:1458
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Recurrent urinary tract infections, Recurrent viral infec... OMIM:209920
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Joint stiffness, Polycystic ovaries, O... ORPHA:2176
Shwachman-Diamond Syndrome
Hypopituitarism, Metaphyseal chondrodysplasia, Hepatomegaly, Macrocytic anemia, Proximal femoral ... ORPHA:811
Cleidocranial Dysplasia 1
Hip dislocation, Cleft palate, Narrow palate, Supernumerary tooth, Increased susceptibility to fr... OMIM:119600
Laron Syndrome
Tooth agenesis, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Truncal obesity, Mi... ORPHA:633
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Limb undergrowth, Metaphyseal widening, Short ribs, Short nose, Anteverted nares, Brachydactyly, ... OMIM:618961
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Diastema, Osteoporosis, Microdontia, Osteopenia, Supernumerary tooth, Joint... OMIM:619718
Oculodentodigital Dysplasia
Camptodactyly of finger, Tooth agenesis, Abnormal cortical bone morphology, Abnormal diaphysis mo... ORPHA:2710
C Syndrome
Hip dislocation, Hepatomegaly, Micromelia, Toe syndactyly, Thick anterior alveolar ridges, Postax... OMIM:211750
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... ORPHA:217390
Terminal Osseous Dysplasia
Depressed nasal tip, Camptodactyly of finger, Camptodactyly of toe, Thick vermilion border, Malar... OMIM:300244
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Camptodactyly of... OMIM:259600
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Depressed nasal ridge, Abnormal diaphysis morphology, Anemia, S... ORPHA:1842
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Narrow mouth, Preaxial hand polydactyly, Decreased proportion of CD4-positive helpe... ORPHA:508533
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Short nose, Osteoarthritis, Delayed epiphyseal ossification, Sm... OMIM:618618
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Hip dislocation, Retrognathia, Limb undergrowth, Short nose, Recurrent lower respira... OMIM:618005
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Cryptorchidism, Decreased fetal movement, Retrognathia, High palate, Low-set ears,... OMIM:618393
Rothmund-Thomson Syndrome Type 2
Tooth agenesis, Pathologic fracture, Finger symphalangism, Abnormal trabecular bone morphology, C... ORPHA:221016
Familial Adenomatous Polyposis
Congenital hypertrophy of retinal pigment epithelium, Adenocarcinoma of the small intestine, Colo... ORPHA:733
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Recurrent infections, Polydactyly, Short nose, Hypoplasti... OMIM:616910
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Toe synd... ORPHA:1327
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Persisten... OMIM:265800
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Anemia, Delayed eruption of teeth, Increased body weigh... OMIM:614450
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Pancytopenia, De... OMIM:616873
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Broad thumb, Narrow mouth, Brachydactyly, Cryptorchidism, Micropenis, Shynes... OMIM:300978
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Dysosteosclerosis
Oligodontia, Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Absent ... OMIM:224300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Meningioma, Pilomatrixoma, Broad thumb, Narrow palate, Su... ORPHA:353281
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... OMIM:202700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Metaphyseal cupping, Flat acetabular roof, Short ribs, Deep philtrum, ... OMIM:613320
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Pseudohypoparathyroidism... OMIM:612462
Cherubism
Oligodontia, Jaw swelling, Multiple impacted teeth, Narrow palate, Dental malocclusion, Alveolar ... OMIM:118400
Camurati-Engelmann Disease
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Hepatomegaly, Cachexia,... ORPHA:1328
Rothmund-Thomson Syndrome, Type 2
High palate, Cryptorchidism, Congenital hip dislocation, Small for gestational age, Short thumb, ... OMIM:268400
Trichorhinophalangeal Syndrome Type 1
Short distal phalanx of finger, Camptodactyly of finger, High palate, Abnormality of the dentitio... ORPHA:77258
Agammaglobulinemia 8A, Autosomal Dominant
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... OMIM:616941
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Short stature, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depre... ORPHA:1355
Majeed Syndrome
Increased bone mineral density, Leukocytosis, Hepatomegaly, Cachexia, Failure to thrive, Metaphys... ORPHA:77297
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Cryptorchidism, Ambiguous genitalia, Deep philtrum, Thrombocytope... ORPHA:1237
Hutchinson-Gilford Progeria Syndrome
Abnormal nasal tip morphology, Hip dislocation, Osteolytic defects of the distal phalanges of the... ORPHA:740
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malar flattening, Short nose, Decreased circulating IgA level, Reduced natural kill... OMIM:242860
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly, Recurrent infections OMIM:606445
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... ORPHA:363417
Craniometadiaphyseal Dysplasia
Absent paranasal sinuses, High palate, Genu varum, Malar flattening, Wide anterior fontanel, Coxa... OMIM:269300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Bifid uvula, Recurrent bacterial infections, Decreased response to gr... OMIM:241410
Smith-Magenis Syndrome
Delayed puberty, Chronic otitis media, Cleft palate, Toe syndactyly, Cleft upper lip, Brachydacty... ORPHA:819
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Short mandibular rami, Delayed eruption of teeth OMIM:141300
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Secondary hyperparathyroidism, Genu varum, Irregular, rachitic-like metaphyses, Enamel h... ORPHA:289157
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... ORPHA:75508
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Cleft palate, Anteverted nares, Micrognathia, Thin upper lip vermilion ORPHA:2015
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Oligodontia, Hip dislocation, Hip dysplasia, Median cleft lip and palate... ORPHA:3107
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Cryptorchidism, Open mouth, Large for gestational age, Wide anter... OMIM:616638
Mulibrey Nanism
Hypoplastic frontal sinuses, Hepatomegaly, Enamel hypoplasia, Recurrent lower respiratory tract i... OMIM:253250
Hallermann-Streiff Syndrome
Selective tooth agenesis, Narrow mouth, Narrow palate, Supernumerary tooth, Thin vermilion border... OMIM:234100
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Boomerang Dysplasia
Abnormality of the humerus, Cryptorchidism, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... ORPHA:1263
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Hepatomegaly, Recurrent lower respiratory tract infections, Cleft ... OMIM:612541
Mirage Syndrome
Recurrent urinary tract infections, Decreased testicular size, Radial club hand, Cryptorchidism, ... OMIM:617053
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Short nose, Delayed eruption of permanent teeth, Rocker bottom foot, Anteverted nares, Thick verm... OMIM:618506
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Congenital hypertrophy of retinal pigment epithelium, Astrocyt... OMIM:175100
4H Leukodystrophy
Delayed puberty, Abnormality of the dentition, Decreased response to growth hormone stimulation t... ORPHA:289494
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis ORPHA:3240
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Increase... OMIM:615767
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Abnormality of bone mineral density, Temporomandibular joint ankylosis, ... ORPHA:2741
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Short nose, Short columella, Dental malocclusion, Depressed nasal... OMIM:155050
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Anemia, Cortical thickening ... OMIM:131300
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Short metatarsal, Hearing impairment, Elevated circulating thyroid-stimulating h... OMIM:101800
Periventricular Nodular Heterotopia 7
Cryptorchidism, Short nose, Optic disc pallor, Micrognathia, Failure to thrive, Contracture of th... OMIM:617201
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Central vertebral hypoplasia, Limb undergrowth, Short ribs, Hepatomegaly, Delayed epi... OMIM:602557
Achondrogenesis Type 1A
Short nose, Abnormal enchondral ossification, Anteverted nares, Micromelia, Long philtrum, Short ... ORPHA:93299
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... OMIM:233650
Perlman Syndrome
Open mouth, Cryptorchidism, Retrognathia, Low-set ears, Posteriorly rotated ears, Short nose, Cap... ORPHA:2849
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Broad philtrum, Short nose, Anteverted nares, Hypoplastic female external genital... OMIM:618577
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Abnormal palate morphology, Protruding ear, Short nose, Death in infancy... ORPHA:1495
Intellectual Developmental Disorder, X-Linked 30
Open mouth, High palate, Prominent nasal bridge, Restlessness, Agitation, Hyperactivity, Anxiety,... OMIM:300558
Prolidase Deficiency
Concave nasal ridge, High palate, Increased circulating antibody level, Anemia, Short nose, Hepat... OMIM:170100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Bulging epiphyses, Failure to thrive, Delayed epiphyseal ossification, Femoral bowing, S... OMIM:600081
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Cleft palate, Broad thumb,... OMIM:616331
Immunodeficiency 76
Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchiolitis, Sp... OMIM:619164
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Hand polydactyly, Cryptorchidism, Abnormal palate morphology, Abnorma... ORPHA:1350
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Ohdo Syndrome
Depressed nasal bridge, Cryptorchidism, Hypoplasia of teeth, Widely spaced teeth, Short nose, Sho... OMIM:249620
Chime Syndrome
Thick vermilion border, Osteolysis, Hip dislocation, Abnormality of the dentition, Depressed nasa... ORPHA:3474
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Broad nasal tip, Preaxial foot polydactyly, C... OMIM:252100
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Abnormal nostril morphology, Short nose, Mandibul... ORPHA:1248
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nasal bridge, Protruding ear, Mandibular prognathia, Reti... ORPHA:627
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Penoscrotal transposition, Choanal atresia, Hearing impairment, Small for gestationa... OMIM:619148
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... OMIM:113000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hip dysplasia, Smooth philtrum, 11 pairs of ribs, Recurrent infections, Depressed nasal tip, Cryp... OMIM:620005
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Craniosynostosis, Cryptorchidism, Micropenis, Short nose, Decreased response to growth hormone st... OMIM:614732
Immunodeficiency 13
Decreased CD4:CD8 ratio, Recurrent shingles, Nasal polyposis, Lymphopenia, Recurrent otitis media... OMIM:615518
Immunodeficiency 15A
Decreased proportion of memory B cells, Recurrent respiratory infections, Chronic mucocutaneous c... OMIM:618204
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Retrognathia, Abnormal metaphysis morphology, Abnormal hip bone morpholo... ORPHA:2631
Potocki-Shaffer Syndrome
Micropenis, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Multiple exostose... OMIM:601224
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Abnormal metaphysis morphology, Limb undergrowth, Rhizomelia, Abnor... ORPHA:177
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Short distal phalanx of finger, Camptodactyly of finger, Ankyloglossia, Hea... ORPHA:1507
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Fraxe Intellectual Disability
Prominent nasal bridge, Hyperactivity, Agitation, Prominent ear helix, Intrauterine growth retard... ORPHA:100973
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Gapo Syndrome
Hemangioma, Choanal atresia, Hearing impairment, Thick nasal alae, Delayed eruption of teeth, Abn... ORPHA:2067
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Gingival bleeding, Leukopenia, Increased circulating ... ORPHA:77259
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Low-set ears, Prominent nasal bridge, Hyperactivity, Anxiety, Posterio... OMIM:609425
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Hallermann-Streiff Syndrome
Choanal atresia, Narrow mouth, Supernumerary tooth, Abdominal situs inversus, Cryptorchidism, Mal... ORPHA:2108
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Osteolysis, Abnormal cortical bone morphology,... ORPHA:2796
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Cleft palate, Hearing impairment, Facial capillary hemangioma, Microglossia, Brachyd... ORPHA:364577
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Thick lower lip vermilion, Brachydactyly, Emotional lability, Cryptorchidism, Mi... OMIM:300354
Growth Hormone Insensitivity Syndrome
Hypogonadism, Truncal obesity, Short stature, Failure to thrive, Hypoplasia of penis, Everted low... ORPHA:181393
Singleton-Merten Syndrome 1
Hip dislocation, Smooth philtrum, Carious teeth, Short dental root, Expanded phalanges with widen... OMIM:182250
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Cryptorchidism, Short nose, Intrauterine growth retardation, Optic atrophy, Decreas... OMIM:615419
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tib... OMIM:112350
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Depressed nasal ridge, Median cleft lip and palate, Posteriorly rotat... ORPHA:1832
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Deep philtrum, Sho... ORPHA:2701
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Open mouth, Short nose, Microdontia, Delayed eruption of permanen... OMIM:619356
Diastrophic Dysplasia
Short finger, Cystic lesions of the pinnae, Small for gestational age, Glabellar hemangioma, Ulna... OMIM:222600
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Cryptorchidism, Low-set, posteriorly rotated ears, Neoplasm, Abno... ORPHA:1912
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Metaphyseal cupping, Short ribs, Rhizomelia, Malar flattening, Sh... ORPHA:50945
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Non-Distal Duplication 13Q
Hemangioma, High palate, Cryptorchidism, Abnormality of the dentition, Cognitive impairment, Abno... ORPHA:1702
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Premature loss of primary teeth, Premature loss of pe... OMIM:146300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Fractured radius, Micropenis, Decreased fibular diameter, Limb undergr... OMIM:616897
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, Abnormalit... ORPHA:251028
Achondrogenesis Type 1B
Short nose, Abnormal enchondral ossification, Anteverted nares, Micromelia, Long philtrum, Microg... ORPHA:93298
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormal palate morphology, Polyhydramnios, Short nose, Anteverted nares, Ro... ORPHA:1450
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Abnormality of the dentition, Femoral bowing, Joint laxity, Recurrent f... OMIM:617952
Schwartz-Jampel Syndrome
Hip dysplasia, Cachexia, Cleft palate, Shoulder flexion contracture, Narrow mouth, Supernumerary ... ORPHA:800
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Finger symphalangism, Abnormal trabecular bone morphology, Carious teeth, Short p... ORPHA:221008
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Autosomal Dominant Omodysplasia
Short humerus, Cryptorchidism, Ambiguous genitalia, Malar flattening, Rhizomelia, Short nose, Hyp... ORPHA:93328
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... ORPHA:1782
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i... ORPHA:3243
12Q14 Microdeletion Syndrome
Prominent nasal bridge, Failure to thrive, Wide nose, Downturned corners of mouth, Thin vermilion... ORPHA:94063
Atelosteogenesis, Type Ii
Depressed nasal bridge, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Mal... OMIM:256050
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Coffin-Lowry Syndrome
Short distal phalanx of finger, Protruding ear, Abnormal diaphysis morphology, Widely spaced teet... ORPHA:192
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Eclabion, Recurrent infections, Lymphopenia, Failure to thrive, ... OMIM:616395
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... OMIM:307200
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Malar flattening, Finger syndactyly, Short 4th metacarpal, Hig... ORPHA:1787
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Leukopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Short metacarpal, Re... ORPHA:508542
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, B lymphocytopenia, Recurrent infections, Rec... OMIM:614700
Char Syndrome
Hand polydactyly, Depressed nasal ridge, Supernumerary nipple, Malar flattening, Mesoaxial foot p... ORPHA:46627
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ... OMIM:257850
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Anxiety, Short nose, Short stature, Micrognathia, Dental crowding, Anteverted nare... OMIM:145420
Acrocallosal Syndrome
Bifid uvula, Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Narrow mouth, Prominent pal... OMIM:200990
Cranio-Osteoarthropathy
Deviation of finger, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthriti... ORPHA:1525
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Cryptorchidism, Prominent nasal bridge, Cognitive impairment, Posteriorl... ORPHA:2083
Gm1 Gangliosidosis
Camptodactyly of finger, Broad nasal tip, Abnormal diaphysis morphology, Narrow mouth, Hepatosple... ORPHA:354
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Recurrent infections, Hemolytic anemia, Increased circulating a... OMIM:614470
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Camptodactyly, Open mouth, High palate, Low-set ears, Pierre-Robin sequence, Posteriorly rotated ... OMIM:613604
Intellectual Developmental Disorder, X-Linked 104
High palate, Retrognathia, Hyperactivity, Abnormal pinna morphology, Bifid nasal tip, Tremor, Wid... OMIM:300983
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Short distal phalanx of finger, Hypoplasia of the uterus, Short nose, Intrauteri... OMIM:615866
Fibrous Dysplasia Of Bone
Rickets, Abnormality of the humerus, Pathologic fracture, Cortical irregularity, Osteomalacia, Th... ORPHA:249
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... OMIM:618969
Chromosome 19Q13.11 Deletion Syndrome, Distal
Single umbilical artery, Solitary median maxillary central incisor, Thin vermilion border, Cariou... OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Prominent nasal bridge, Underdeveloped nasal alae, Attention deficit hyperactivity d... OMIM:618825
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Ruvalcaba Syndrome
Delayed puberty, Cryptorchidism, Proximal placement of thumb, Short nose, Intrauterine growth ret... ORPHA:3121
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Hip dislocation, Micropenis, Glioma, Short nose, Occipital encephaloc... OMIM:241800
Cri-Du-Chat Syndrome
Self-mutilation, Bifid uvula, Conspicuously happy disposition, Short metatarsal, Hearing impairme... OMIM:123450
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... ORPHA:1505
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Chilton-Okur-Chung Neurodevelopmental Syndrome
Broad nasal tip, Ankyloglossia, Widely spaced teeth, Septo-optic dysplasia, Broad finger, Smooth ... OMIM:619841
Coffin-Siris Syndrome 3
Macroglossia, High palate, Delayed eruption of permanent teeth, Cleft palate, Wide nose, Antevert... OMIM:614608
Vici Syndrome
Cleft palate, Abnormality of the thymus, Recurrent fungal infections, Decreased proportion of CD4... OMIM:242840
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Marshall-Smith Syndrome
Craniosynostosis, Reduced bone mineral density, Open mouth, Retrognathia, Short nose, Choanal atr... ORPHA:561
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Open mouth, Broad nasal tip, Overweight, Retrognathia, Abnormality of the ear, Hypoplastic helice... ORPHA:391372
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Tooth agenesis, Flattened epiphysis, Truncal obesity, Advanced ossification of carpal bones, Clef... OMIM:618363
Achondrogenesis Type 2
Hypoplastic ilia, Short ribs, Delayed proximal femoral epiphyseal ossification, Micromelia, Short... ORPHA:93296
Intellectual Developmental Disorder, Autosomal Dominant 1
Hip dysplasia, Protruding ear, Widely spaced teeth, Cupped ear, Polyphagia, Impaired social inter... OMIM:156200
Acrocraniofacial Dysostosis
Craniosynostosis, Short distal phalanx of finger, Partial duplication of the distal phalanx of th... ORPHA:949
Lead Poisoning
Delayed puberty, Decreased male libido, Abnormality of the menstrual cycle, Oligospermia, Small f... ORPHA:330015
Achondrogenesis
Abnormality of bone mineral density, Short nose, Abnormal enchondral ossification, Anteverted nar... ORPHA:932
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Recurrent infections, Abscess, Recurrent aphthous stomatitis, Neut... OMIM:150550
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Spondyloepiphyseal Dysplasia Tarda
Localized osteoporosis, Abnormality of the tibial plateaux, Cleft palate, Flattened femoral head,... ORPHA:93284
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Tooth malposition, Absent nares, Bifid uvula, Hypogonadism, External genital hypo... ORPHA:2250
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Aplastic anemia, Hemophagocytosis, Meningitis, Hepatomegaly, Fu... OMIM:308240