Gene Summary

TNF receptor-associated factor 6
C630032O20Rik,  2310003F17Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased grip strength Traf6tm2a(EUCOMM)Wtsi HET Early adult 1.86×10-07
preweaning lethality, complete penetrance Traf6tm2a(EUCOMM)Wtsi HOM   Early adult 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.

DSS Histology


8 Images

Anti-nuclear antibody assay


6 Images

Eye Morphology

Images Slit Lamp

3 Images

Ear epidermis immunophenotyping


18 Images

Legacy Phenotype Associated Images

View all 36 images

Human diseases caused by Traf6 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 Traf6 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of skin pigmentation, Hypodontia, Premature loss of primary teeth, ... ORPHA:1810

The table below shows human diseases predicted to be associated to Traf6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 1
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral... OMIM:259700
Osteopetrosis, Autosomal Recessive 2
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Mandibular prognathia, Pancytopenia, Dec... OMIM:259710
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... ORPHA:2722
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... ORPHA:3352
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Eiken Syndrome
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyse... OMIM:600002
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... OMIM:611490
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Epicanthus, Hypopigmentation of h... OMIM:618541
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bon... OMIM:607634
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... OMIM:166600
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short phalanx of finger, Gingival hyperkeratosis, Epicanthus, Micrognathia, Everted lower lip ver... OMIM:225410
Thumb Deformity And Alopecia
Alopecia, Short stature, Solitary median maxillary central incisor, Short thumb, Increased groin ... OMIM:188150
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Micrognathia, Increased bone mineral density, Hepatosplenomegaly, Hepatomegaly, ... OMIM:259720
Intermediate Osteopetrosis
Increased susceptibility to fractures, Anemia, Dental malocclusion, Osteomyelitis, Recurrent frac... ORPHA:210110
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Abnormal long bone morphology, Increased bone miner... ORPHA:166119
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Arthritis, Scl... ORPHA:564003
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive, Dense metaphyseal bands,... OMIM:615198
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse scalp hair, Mandibular prognathia, Dermal translucency, Absent eyelashes, Epican... OMIM:137940
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Mueller-Weiss Syndrome
Pedal edema, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibial torsion, S... ORPHA:566943
Otopalatodigital Syndrome, Type I
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... OMIM:311300
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Generalized hirsutism, Thick eyebrow... ORPHA:2222
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Osteopetrosis, Erlenmeyer flask de... OMIM:611497
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Death in infancy, Abnormal trabecular bone morphology, D... OMIM:612301
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... OMIM:277440
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Gingivitis, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia unive... ORPHA:1008
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Enamel hypoplasia, Recurrent fractures, Bulging epiph... OMIM:264700
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Death in infancy, Micrognathia, Epiphyseal stippling, Hepatomegaly OMIM:614882
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Trapezoidal distal femoral condyles, Genu valgum, Met... OMIM:307800
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hypopigmentation, Delayed e... ORPHA:1816
Pyle Disease
Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti... OMIM:265900
Alopecia Universalis Congenita
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair OMIM:203655
Pilarowski-Bjornsson Syndrome
Downslanted palpebral fissures, Dermal translucency, Broad eyebrow, Long eyelashes, Almond-shaped... OMIM:617682
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Alopecia, Triphalangeal thumb, Finger syndactyly, Fingernail dysplasia, ... ORPHA:2251
Vitamin D-Dependent Rickets, Type 3
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Osteope... OMIM:619073
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Small for... OMIM:275400
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Osteoglosphonic Dysplasia
Failure to thrive in infancy, Abnormal bone ossification, Rhizomelia, Micrognathia, Multiple uner... ORPHA:2645
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Osteoporosis, Lymphadenopath... ORPHA:100024
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Short finger, Alopecia totalis, Abnormality of the nail, Severe short stature, Hy... OMIM:302000
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio... ORPHA:85188
Barber-Say Syndrome
Delayed eruption of teeth, Micrognathia, Hypoplastic labia majora, Sparse eyelashes, Gingival ove... OMIM:209885
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... ORPHA:79397
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Downslanted palpebral fissures, Abnormal fingertip morphology, Dermal translucency, Almond-shaped... ORPHA:529965
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs, Iron deficiency anemia, Hypocalcemia... ORPHA:89937
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Parc Syndrome
Alopecia, Absent eyelashes, Microretrognathia, Absent eyebrow, Cleft palate OMIM:600331
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Hypophosphate... OMIM:600081
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... OMIM:617294
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Hepatomegaly... ORPHA:2204
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... OMIM:601668
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Short middle phalanx of the 5th finger, Hip osteoarthritis, Hip dysplasia, ... ORPHA:63442
Cutis Laxa, Autosomal Recessive, Type Iiib
Flexion contracture, Cutis laxa, Dermal translucency, Elbow flexion contracture, Intrauterine gro... OMIM:614438
Alopecia Areata 1
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia OMIM:104000
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy, Alopecia ORPHA:499
Albers-Schönberg Osteopetrosis
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Arthritis, Abnormal metacarpal morpholog... ORPHA:53
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Elevated circulating creatinine concentration, Unconjugated hype... ORPHA:232
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... ORPHA:2228
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus OMIM:600121
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Abnormal metaphysis morphology, Large iliac wing, Delayed eruption of teeth, Increa... ORPHA:2780
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia ORPHA:701
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Advanced ossification of carpal bones, Decreased body weig... OMIM:615349
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, Ridged nail, T lymphocytopenia, Nail pits ORPHA:169095
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Abnormal cortical bone morphology, Generalized osteosclerosis, Cranial hyp... ORPHA:3416
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Anemia, Recurrent fractures, Delayed eruption of teeth, Premature loss ... ORPHA:667
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Hypo... ORPHA:93160
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Anemia, Osteopetrosis, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedull... OMIM:259730
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ... ORPHA:2790
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... ORPHA:1802
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Genu varum, Irregular, rachitic-like met... ORPHA:289157
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... ORPHA:90650
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis, Periodontitis OMIM:104130
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Leukocytosis, Hepatomegaly, I... ORPHA:37748
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Genu valgum, Eruption failure, Delayed eruption of primary teeth, Mu... OMIM:273050
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... ORPHA:189
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Alopecia, Anemia, Sparse scalp hair, Hypoplastic toenails, Mandibular prognath... ORPHA:2325
Trichodentoosseous Syndrome
Widely spaced teeth, Increased bone mineral density, Microdontia, Taurodontia, Fragile nails, Abn... OMIM:190320
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Bifid uvula, Freckling, Smooth philtrum, Coarse hair, Sparse hair, Slow-growing hair,... OMIM:617506
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Increased susceptibility to fractures, Anemia, Premature graying of hair, Dermal translucency, Sh... OMIM:612199
Marbach-Rustad Progeroid Syndrome
Eruption failure, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Ventricular septal... OMIM:619322
Mohr Syndrome
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... OMIM:252100
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Tapered finger, Weight loss, Abnormal testis morphology, S... ORPHA:317
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Osteopenia, B... OMIM:619718
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
De Barsy Syndrome
Downslanted palpebral fissures, Small, conical teeth, Generalized joint laxity, High palate, Dela... ORPHA:2962
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Thin bony cortex, Metaphyseal irregularity, Recurrent... OMIM:241530
Craniometaphyseal Dysplasia
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Abnormal eyelid morphology, Skin ulcer, Abnormality of the... ORPHA:2584
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Synophrys, Gingival overgrowth, Gingival fibromatosis, Hirsutism, Thic... ORPHA:2026
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Generalized osteosclerosis, Feta... OMIM:215045
Candidiasis, Familial, 1
Alopecia, Premature loss of teeth OMIM:114580
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly ORPHA:46532
Cardiospondylocarpofacial Syndrome
Synostosis of carpal bones, Mitral valve prolapse, Failure of eruption of permanent teeth, Brachy... ORPHA:3238
Osteoglophonic Dysplasia
Short phalanx of finger, Broad foot, Limb undergrowth, Short palm, Pseudoarthrosis, Increased sus... OMIM:166250
X-Linked Hypophosphatemia
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... ORPHA:89936
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair ORPHA:505
Majeed Syndrome
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... ORPHA:77297
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, High palate, Abnormal foot morphology, Gingival overgrowth, Failure to ... OMIM:269920
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Flynn-Aird Syndrome
Alopecia, Increased bone density with cystic changes, Increased bone mineral density, Alopecia of... OMIM:136300
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Beta-Thalassemia Major
Abnormality of iron homeostasis, Malar prominence, Hepatocellular carcinoma, Hepatosplenomegaly, ... ORPHA:231214
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyl... OMIM:203550
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Joint laxity, Elevated circulating a... OMIM:614727
Cranioectodermal Dysplasia
Finger syndactyly, Rhizomelia, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th fing... ORPHA:1515
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Extramedullary hematopoiesis, Hepatocellular carcinoma, Malar pr... ORPHA:231226
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Fractured radius, Ventricular septal defect, Short ribs, Small for gestation... OMIM:616897
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hamamy Syndrome
Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hypochromic anemia, R... OMIM:611174
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Narrow palate, Crowded maxillary incisors, Hip dysplasia, Micrognathia, ... ORPHA:2063
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis,... ORPHA:1423
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... OMIM:619598
Refractory Celiac Disease
Weight loss, Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen ... ORPHA:398063
Nicolaides-Baraitser Syndrome
Abnormal testis morphology, Everted lower lip vermilion, Abnormal hair pattern, Smooth philtrum, ... ORPHA:3051
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Premature loss of primary teeth, Abnormality of dental morphology, Fine hair, Abnormal ... ORPHA:248
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Patellar dislocation, Micrognathia... OMIM:147891
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... ORPHA:2804
Retrognathia, Increased bone mineral density, Micrognathia, Bifid uvula, Submucous cleft hard pal... ORPHA:35107
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short long bone, Short ribs, Micr... OMIM:156400
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Delayed e... OMIM:619489
Gapo Syndrome
Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Wide anterior fontanel, High, narrow p... OMIM:230740
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Autoimmune thromboc... OMIM:618534
Increased bone mineral density, Micrognathia, Hepatosplenomegaly, Hypoplastic iliac wing, Increas... ORPHA:763
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
2-3 toe syndactyly, Aplasia of the 1st metacarpal, Unilateral radial aplasia, Tapered finger, Eru... ORPHA:476126
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... OMIM:184260
Clouston Syndrome
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Palmoplantar h... OMIM:129500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, High palate, Micrognathia, Sideroblastic anemia, Erythroid hyperplasia, Join... OMIM:600462
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300554
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia, Increa... ORPHA:482
Familial Osteodysplasia, Anderson Type
Increased susceptibility to fractures, Hyperuricemia, Aplastic clavicle, Recurrent fractures, Man... ORPHA:2769
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Erlenmeyer flask deformity of the femurs, Increased skull ossification, Diaphyseal sclerosis, Cra... OMIM:618476
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Fontaine Progeroid Syndrome
Synophrys, Microdontia, Micrognathia, Hypoplastic labia majora, Everted lower lip vermilion, Smoo... OMIM:612289
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Wt Limb-Blood Syndrome
Ulnar deviation of thumb, Short phalanx of finger, Ulnar deviation of the 3rd finger, Absent thum... OMIM:194350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Jaundice, Failure to thrive, Carious teeth, Osteopenia, Hepato... OMIM:612714
Increased bone mineral density, Stillbirth OMIM:265880
Hemifacial Atrophy, Progressive
Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Poliosis, Tongue atrophy, Blepha... OMIM:141300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Cafe-au-lait spot, Hypogonadism, Delayed eruption of teeth, Small for gestational age, Micrognath... ORPHA:73272
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Lenz-Majewski Hyperostotic Dwarfism
Abnormal nasolacrimal system morphology, Increased bone mineral density, Bifid uvula, Hypoplastic... ORPHA:2658
Orofaciodigital Syndrome Type 2
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Micrognathia, T... ORPHA:2751
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Elevated circulating... OMIM:614876
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Pedal edema, Pericardial effusion, Increased bone mineral density,... ORPHA:77259
Osteopetrosis With Renal Tubular Acidosis
Prominence of the zygomatic bone, Micrognathia, Elevated circulating creatine kinase concentratio... ORPHA:2785
Brachydactyly, Type E1
Short metacarpal, Multiple impacted teeth, Brachydactyly, Short clavicles, Short metatarsal, Type... OMIM:113300
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Nail dys... OMIM:601705
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... OMIM:190351
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteoscleros... OMIM:122860
Growth Hormone Insensitivity Syndrome
Hypogonadism, Delayed eruption of teeth, Short stature, Hypoplasia of penis, Abnormality of the n... ORPHA:181393
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Decreased body weight, Short stature, Absent eyelashes, Failure to thri... ORPHA:2985
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Alopecia, Hypoplastic toenails, Sparse scalp hair, Small nail, Pili torti, Enamel ... OMIM:613573
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Femoral bowing, Ost... OMIM:602080
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Abnormal zygomatic bone morphology, F... ORPHA:249
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Patent foramen ovale, Rhizomelia, Decreased circulating antibody level, Small for ge... OMIM:607143
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... OMIM:214450
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Miscarriage, Drug-sensitive hemolytic anemi... ORPHA:2133
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Short phalanx of finger, Broad femoral neck, Dental malocclusion, Tapere... OMIM:612350
Rosaï-Dorfman Disease
Osteolysis, Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemia, Abnormality of the lower limb, Rickets, Hypophosphatemic rickets,... OMIM:193100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Talipes, Genu recurvatum, Reduced bone minera... ORPHA:2611
Raine Syndrome
Increased bone mineral density, Micrognathia, Microdontia, Cleft palate, Gingival overgrowth, Art... OMIM:259775
Buschke-Ollendorff Syndrome
Lower limb asymmetry, Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, High palate, Short stature, Brittle hair, Epicanthus, Failure to thrive, Bilateral sing... ORPHA:50812
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... OMIM:618363
Robin Sequence With Cleft Mandible And Limb Anomalies
Short phalanx of finger, Short tibia, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... OMIM:268305
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Cleft mandible, Aplasia of the distal phalanx of... ORPHA:364577
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... OMIM:607271
Diastrophic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Increased bone minera... ORPHA:628
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia, Rhizomelia, Short stature, Epicanthus, Epiphyseal stippling, Limitati... ORPHA:177
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilag... OMIM:215100
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Hyperparathyroidism, Neonatal Severe
Anemia, Metaphyseal irregularity, Recurrent fractures, Calcinosis, Hypophosphatemia, Failure to t... OMIM:239200
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, High palate, Delayed eruption of teeth, Synophrys, Abnormality of... ORPHA:2025
Bloom Syndrome
Decreased circulating total IgM, Agenesis of maxillary lateral incisor, Small for gestational age... OMIM:210900
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Broad jaw, Craniosynostosis ORPHA:178377
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Death in inf... ORPHA:166272
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Scarring alopecia ... ORPHA:79402
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Limited elbow movement, Short femoral neck, Short long bone,... ORPHA:94068
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... ORPHA:3019
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Alopecia, Nephrotic syndrome, Stage 5 chronic kidney disease, Arthritis, ... OMIM:615559
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leu... OMIM:209950
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... OMIM:241520
L-Ferritin Deficiency
Alopecia OMIM:615604
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia OMIM:606893
Pseudohypoparathyroidism, Type Ia
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Short metacarpal, Delayed e... OMIM:103580
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Clubbing of fingers, Clubbing, Hypoproteinemia, Thr... OMIM:226300
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Mandibular prognathia, Short stature, Advanc... ORPHA:1133
Hyperphosphatemia, Short 5th finger, Short 4th metacarpal, Ectopic ossification, Short 5th metaca... ORPHA:79445
Singleton-Merten Syndrome 1
Osteolytic defects of the phalanges of the hand, Subvalvular aortic stenosis, Hip subluxation, De... OMIM:182250
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar OMIM:604625
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Abnormality of the l... ORPHA:1667
Renpenning Syndrome
Alopecia, Mandibular prognathia, Epicanthus, Decreased testicular size, Thin eyebrow, Cachexia, C... ORPHA:3242
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Delayed eruption of teeth, Short philtrum, Osteoporosis, Cone-shaped e... ORPHA:71267
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... ORPHA:2890
Hypotrichosis 5
Alopecia, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morphology, Absent pubic ha... OMIM:612841
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Wide distal femoral metaph... OMIM:614856
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Hirsutism, Cleft palate, Thick eyebrow, Small nail, Macroglossia, Ptos... OMIM:614607
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia, Ectopic ossification in ligament tissue, Hallux valgus, Clinodactyly of the 5th... ORPHA:337
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Melanocytic nevus, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys,... ORPHA:1327
Hypophosphatemic Bone Disease
Rickets, Hypophosphatemia, Bowing of the legs, Osteomalacia OMIM:146350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Temple-Baraitser Syndrome
Delayed phalangeal epiphyseal ossification, Everted upper lip vermilion, Delayed eruption of teet... ORPHA:420561
Rapp-Hodgkin Syndrome
Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Hypoplastic labia maj... OMIM:129400
Macrophage Activation Syndrome
Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... OMIM:615631
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Coxa valga, High palate, Long philtrum, Increased bone mineral densit... ORPHA:163649
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis, Death in infancy OMIM:600329
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic sweat glands, Sparse eyebrow, Sparse scalp hair, Natal tooth, Short stature, Hypodont... OMIM:601345
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Tapere... ORPHA:2930
Cleidocranial Dysplasia 2
Genu valgum, Coxa valga, Aplastic clavicle, Delayed eruption of primary teeth, Delayed ossificati... OMIM:620099
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Genu varum, Hypocalcemic tetany, Coxa vara, Osteomalacia, Abnormal trabec... ORPHA:289176
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, Downslanted palpebral fissures, High palate... ORPHA:2863
Dent Disease 1
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300009
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Pitt-Hopkins Syndrome
Tooth malposition, Tapered finger, Small hand, Wide mouth, Short philtrum, Supernumerary nipple, ... ORPHA:2896
Tetrasomy 12P
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Short stature, Delayed eruption of teet... ORPHA:884
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Reduced bone mineral density, Hypoplastic il... ORPHA:93315
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Broad femoral neck, Obtuse angle of mandible, Coxa valga, Short tubular bones o... ORPHA:85184
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Ventricular hypertrophy, Cleft upper lip, Retrognathia, Ventricular septal d... OMIM:612561
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Melanocytic nevus, Short stature, Hypodontia, Small pituitary gland, Carious teeth, Hyp... OMIM:612079
Moynahan Syndrome
Alopecia, Short stature, Hypogonadism, Cachexia, Sparse hair ORPHA:2574
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Weight loss, Elevated hepatic transaminase, Sto... OMIM:212750
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Abnormality of skin pigmentation, Intrauterine growth retardation, Failure to thrive, B... OMIM:616353
Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... OMIM:224300
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Anemia, Osteomyelitis, Weight loss, Short stature, Arthritis, Skin ulce... ORPHA:47
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Diamond-Blackfan Anemia 11
Anemia, Absent thumb, Neutropenia, Hypoplasia of the radius, Bicuspid aortic valve, Radioulnar sy... OMIM:614900
Recurrent fractures, Ventricular septal defect, Delayed eruption of teeth, Increased bone mineral... ORPHA:1782
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Hypopigmentation of the skin, Mandibular prognathia, Prominent interdigital ... OMIM:601957
Restrictive Dermopathy
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Te... ORPHA:1662
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Congenital Disorder Of Glycosylation, Type Ii
High palate, Decreased body weight, Joint laxity, Hepatomegaly, Iron deficiency anemia OMIM:607906
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of denta... ORPHA:1028
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Delayed eruption of ... OMIM:612462
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Cleft p... OMIM:108720
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Brachydactyly, Short metatarsal, ... OMIM:612463
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Increased bone mineral densi... OMIM:265800
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... OMIM:608106
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, White e... ORPHA:42665
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho... ORPHA:202
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ... OMIM:214150
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Trisomy 9P
Non-midline cleft lip, Hypoplastic toenails, Downslanted palpebral fissures, Fingernail dysplasia... ORPHA:236
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... OMIM:613849
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... ORPHA:93284
Acrofacial Dysostosis, Weyers Type
Conical tooth, Toenail dysplasia, Hypoplastic toenails, Small nail, Small hand, Hypodontia, Advan... ORPHA:952
Zimmermann-Laband Syndrome
High palate, Hallux valgus, Wide mouth, Micrognathia, Hypodontia, Bifid uvula, Gingival fibromato... ORPHA:3473
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Increased susceptibility to fractures, Reduced natural killer cell count, High palate, Decreased ... OMIM:619752
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Flexion contracture, Sparse scalp hair, Aplasia/Hypoplasia of the eye... ORPHA:2850
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Short stature, Epicanthus, Clinodactyly, Camptodactyly, Osteolysis... ORPHA:88630
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Death in infancy, Arthritis, Hypochromic microcytic anemia, Fail... OMIM:619423
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Retrognathia, Gingival recession, Dermal translucency, Micrognathia, Camptodactyly, Dental crowdi... OMIM:618343
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... OMIM:190350
Atelosteogenesis Type Ii
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus adduc... ORPHA:56304
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Dental malocclusion, Recurrent fractures, Osteomalacia, Hepatitis, ... ORPHA:562
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Naegeli-Franceschetti-Jadassohn Syndrome
Palmoplantar hyperkeratosis, Decreased number of sweat glands, Subungual hyperkeratosis, Generali... ORPHA:69087
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Short stature, Dermal translucency, Joint hypermobility, Reduced bone minera... OMIM:619115
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... ORPHA:93308
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Osteopenia, Hepatomegaly, Hypoch... OMIM:610539
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ... OMIM:144750
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Elsahy-Waters Syndrome
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela... OMIM:211380
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Coffin-Siris Syndrome 3
Sparse scalp hair, High palate, Long philtrum, Wide mouth, Short stature, Long eyelashes, Joint l... OMIM:614608
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Short lingual frenulum, Micrognathia, Alopecia totalis, Progressive cl... ORPHA:740
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... OMIM:231095
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Alopecia, Premature graying of hair, Short stature, Urethral stricture, Intrauterine ... OMIM:613990
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Cleft palate,... ORPHA:1452
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Mitral val... ORPHA:137834
Porphyria Cutanea Tarda
Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Hyperpigmentation in sun-exposed areas OMIM:176100
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Macroglossia, Micromelia,... ORPHA:1798
Cardiomegaly, Death in infancy OMIM:227150
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Glossoptosis, Micrognathia, Micromelia, Short femur, Femor... ORPHA:440354
Bent Bone Dysplasia Syndrome 1
Hypoplastic pubic bone, Natal tooth, Coronal craniosynostosis, Micrognathia, Hepatosplenomegaly, ... OMIM:614592
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... ORPHA:157215
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... ORPHA:363417
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Melanocytic nevus, Short stature... ORPHA:1882
Brachydactyly, Type B1
Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint contracture of the hand, S... OMIM:113000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Synophrys, Micrognathia, Palmoplantar hyperkeratosis, Abnormality of the ureter, ... ORPHA:3253
Aarskog-Scott Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Clef... ORPHA:915
Hypophosphatemic Rickets
Bowing of the long bones, Osteomalacia, Enthesitis, Abnormal lower limb bone morphology, Hypophos... ORPHA:437
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... ORPHA:1306
Hypomelanosis Of Ito
Alopecia, Epicanthus, Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Macular hypopigm... OMIM:300337
Increased bone mineral density OMIM:166450
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Macs Syndrome
Irregular dentition, Decreased body weight, Epicanthus, Micrognathia, Gingival overgrowth, Sparse... OMIM:613075
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Downslanted palpebral fissures, Decreased body weight, High palate, Short stature, ... OMIM:618342
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Short hume... OMIM:239000
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Abnorma... ORPHA:1190
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Decreased circulating antibody level, Reduced natural killer cell activity, ... OMIM:308240
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, High palate, Abnormality of neutrophils, Hypochromic anemia, Abnormal hip bone mo... ORPHA:2720
Osteogenesis Imperfecta, Type X
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Generalized joint laxity, Rhizomelia, M... OMIM:613848
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... OMIM:240500
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Tapered finger, Short stature, Decreased testicular size, Congenital abnormal hair patt... ORPHA:1867
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... OMIM:222600
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Vertebral fusion, Coxa vara, Capitate-hamate fusion, Block vertebrae, Short me... OMIM:272460
Camurati-Engelmann Disease
Anemia, Genu valgum, Mandibular prognathia, Increased bone mineral density, Cortical thickening o... OMIM:131300
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Nail dys... OMIM:212360
Brachyolmia Type 1, Hobaek Type
Short femoral neck, Short long bone, Flat acetabular roof, Sclerotic foci of metaphyses of the el... OMIM:271530
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... OMIM:166740
Oncogenic Osteomalacia
Increased susceptibility to fractures, Abnormality of the tarsal bones, Abnormal foot morphology,... ORPHA:352540
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decr... ORPHA:231222
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... ORPHA:2909
Ectodermal Dysplasia 7, Hair/Nail Type
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... OMIM:614929
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis... ORPHA:811
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Reduced natural ... ORPHA:540
Filippi Syndrome
Serrated incisors, Ambiguous genitalia, Decreased body weight, Microdontia, Abnormality of dental... OMIM:272440
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Retrognathia, Abnormal finger morphology, Small for gestational age, Micrognathia, Jaundice, Elev... ORPHA:79333
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Cutaneous abscess, Joint hypermobility, Increased circulating I... OMIM:147060
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune he... OMIM:608184
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Delayed eruption of teeth, Clinodactyly, Camptodactyly, Macroglossia,... OMIM:616354
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Everted upper lip vermilion, Delayed eruptio... ORPHA:181
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Hallux valgus, Micrognathia, Microdontia, Talipes equinovarus, Postn... ORPHA:536467
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Precocious puberty, Short stature, Small for gestational age,... OMIM:262190
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar erythema, Leukonychia, Brittle hair, Nail dysplasia, Hyper... OMIM:104100
Hall-Riggs Syndrome
Thick hair, Wide mouth, Delayed eruption of teeth, Short stature, Thick vermilion border, Epicant... ORPHA:2107
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Epiphyseal stippling, Pancytopenia, Failure to thrive, Downturned corne... ORPHA:251009
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormality of the tongue, Palmoplantar hyperhidrosis, Hypodontia, Skin ulcer, Ankylosi... ORPHA:659
Genu varum, Generalized joint laxity, Short femoral neck, Death in infancy, Short ribs, Radial bo... OMIM:100800
Adult Syndrome
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Finger syndactyly, Toe syndact... ORPHA:978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Oral ulcer, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T ce... ORPHA:169154
Mulibrey Nanism
Dental malocclusion, Enamel hypoplasia, Pericardial constriction, Hypoplastic frontal sinuses, Hy... OMIM:253250
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Ecto... ORPHA:2485
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Sézary Syndrome
Alopecia, Splenomegaly, Irregular hyperpigmentation, Lymphadenopathy, Dry skin, Ectropion, Palmop... ORPHA:3162
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Cornelia De Lange Syndrome 2
Synophrys, Micrognathia, Hirsutism, Smooth philtrum, Thick eyebrow, Postnatal growth retardation,... OMIM:300590
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... OMIM:147750
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, High palate, Natal tooth, Absent para... OMIM:269300
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Telecanthus, Abnormal dent... OMIM:257850
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, High palate, Long philtrum, Wide mouth, Brittle hair, Delayed e... ORPHA:50814
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis, Increased circulating ferritin co... ORPHA:3240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Narrow mouth, Aplasia/Hypoplasia ... OMIM:612447
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Abnormal heart morphology, Delayed eruption of teeth OMIM:600252
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Absent tonsils, Absen... ORPHA:277
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Sparse eyebrow, Alopecia, Enamel hypoplasia, Conjunctivitis, Scarring alopecia o... OMIM:612843
Dyskeratosis Congenita
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Taurodontia, Ski... ORPHA:1775
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Small for gestational age, Hyperbilirubinemia, Erythroid hyperplasia, Reticuloc... OMIM:224120
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Short stature, Recurrent fractures, Dermal translucency, Joint hypermobility OMIM:619120
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Cornelia De Lange Syndrome 5
Toe syndactyly, Synophrys, Micrognathia, Hirsutism, Limited elbow extension, Cleft palate, Teleca... OMIM:300882
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Majeed Syndrome
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... OMIM:609628
Carpenter Syndrome 1
Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared iliac wing, Ca... OMIM:201000
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Hip dysplasia, Taurodontia, Radi... ORPHA:10
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Dilatation of renal calices, Lagophthalm... ORPHA:3455
Johnson Neuroectodermal Syndrome
Alopecia, Downslanted palpebral fissures, Preaxial hand polydactyly, Hypogonadism, Absent eyelash... ORPHA:2316
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Clinodactyly of the ... OMIM:619736
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Scaling skin, Alopecia of scalp, Freckling, Dry skin, Conjunctival... OMIM:618373
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Short stature, Albinism, Pallor, Hypopigmentation of hair, Osteopor... ORPHA:2786
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Weismann-Netter Syndrome
Anterior tibial bowing, Lateral femoral bowing, Delayed eruption of permanent teeth, Fibular bowi... OMIM:112350
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormality of the nail, Osteolysis, Abnormal to... ORPHA:494
Menkes Disease
Alopecia, Hypopigmentation of the skin, Cutis laxa, Brittle hair, Short stature, Joint laxity, In... OMIM:309400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia... OMIM:617780
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Increased body mass index, Delayed eruption of teeth, Macroglossia, Congenital hip disloc... OMIM:614450
Cantu Syndrome
Broad first metatarsal, Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Coxa... OMIM:239850
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... OMIM:618495
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Arachnodactyly, Flexion contracture, Sparse scalp hair, Gingivitis, Abnormality o... ORPHA:75496
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Lymphoproliferative Syndrome 2
Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophag... OMIM:615122
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdon... ORPHA:221016
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Fragile nails, Oral... OMIM:226650
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, T lymphocytopenia, Selective tooth agenesis, Micrognathia, Neoplasm ... ORPHA:2959
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Camurati-Engelmann Disease
Coxa valga, Delayed eruption of teeth, Cachexia, Cortical thickening of long bone diaphyses, Hype... ORPHA:1328
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Transient hypophosphatemia, Small for gestational age, Increased bone ... OMIM:127000
Cranioectodermal Dysplasia 4
Sagittal craniosynostosis, Cutaneous finger syndactyly, Hip dysplasia, Taurodontia, Joint hypermo... OMIM:614378
Schimke Immuno-Osseous Dysplasia
Anemia, Small for gestational age, Abnormal femoral head morphology, Microdontia, Hypodontia, Lym... ORPHA:1830
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... OMIM:119600
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Increas... ORPHA:90652
Laron Syndrome
Short toe, Delayed eruption of teeth, Micrognathia, Microdontia, Brachydactyly, Truncal obesity, ... ORPHA:633
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type