Gene Summary

Name:
TNF receptor-associated factor 6
Synonyms:
2310003F17Rik,  C630032O20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Traf6tm2a(EUCOMM)Wtsi HOM   Early adult 0.00
increased grip strength Traf6tm2a(EUCOMM)Wtsi HET Early adult 1.86×10-07

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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.

Eye Morphology

Images Slit Lamp

3 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
phenotypes
Matching phenotypes Source
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Sparse hair, Abnormality of dental morphology, Abnormality of t... ORPHA:1810

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mine... OMIM:259700
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Recurrent fractu... OMIM:259710
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Hypocalcemia, Stillbirth, Extramedullary hematopoiesis, Hyperbilirubi... OMIM:259720
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Palmoplantar keratoderma, Abnormality of de... ORPHA:2722
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... ORPHA:3352
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Dela... OMIM:600002
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Sple... OMIM:611490
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscler... OMIM:607634
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Recurrent fractures, Generalized osteosclerosis, Os... OMIM:166600
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short stature, Alopecia, Short thumb, Increased groin ... OMIM:188150
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Peroxisome Biogenesis Disorder 10A (Zellweger)
Epiphyseal stippling, Death in infancy, Hepatomegaly, High palate, Micrognathia OMIM:614882
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Subperiosteal bone resorption, Delayed erupt... OMIM:277440
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Pes planus, Positional foot de... ORPHA:566943
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Delayed eruption of teeth, Abnormality of the dentition, Thick ... ORPHA:2222
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Irregular hyperpigmentation, Palmoplantar... ORPHA:1816
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, E... OMIM:264700
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Short distal phalanx of finger, Sandal ga... OMIM:311300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Melanocytic nevus, Abnormality of the dentition, Spar... ORPHA:1008
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Carious teeth, Sparse hair, Failure to thrive, Alopecia, Intrau... OMIM:616353
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Sever... OMIM:275400
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... ORPHA:2645
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Death in infancy, Osteopetrosis, Hepatomegal... OMIM:612301
Pyle Disease
Genu valgum, Delayed eruption of teeth, Carious teeth, Limited elbow extension, Mandibular progna... OMIM:265900
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Thin vermilion border, Sparse hair, Dermal translucency, Blepharophimosis, Cutis ... OMIM:614438
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Almond-shaped palpebral fissure, Dermal translucency, Postnatal growth retardation, Thick eyebrow... ORPHA:529965
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Ly... OMIM:618495
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Rickets, Tooth abscess, Osteomalacia, Bow... ORPHA:89937
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Melanocytic nevus, Flexion contracture, Hypodontia, Ulnar deviation of the hand, D... OMIM:612079
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Abn... ORPHA:79397
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:600081
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Joint hypermobility, Craniosynostosis, Slow-growing hair, Triangular mouth, Downs... OMIM:617506
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2204
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormality of the nail, Hypoplastic toenails, Agenesis of permanent t... ORPHA:2228
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac wing, Increased bone miner... ORPHA:2780
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Lymphadenopathy ORPHA:499
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis, T lymphocytopenia ORPHA:169095
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Pes planus, Camptodactyly, Agenesis of maxillary cent... OMIM:311450
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Hypocalcemia, Osteomyelitis, Abnormality of epiphysis morphology, Rec... ORPHA:53
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:241530
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
De Barsy Syndrome
Cryptorchidism, Delayed eruption of teeth, Sparse hair, Narrow mouth, Dermal translucency, Small,... ORPHA:2962
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Gapo Syndrome
Joint hypermobility, Sparse eyebrow, Sparse hair, Tubulointerstitial fibrosis, Breast hypoplasia,... OMIM:230740
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Genu valgum, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Abnormal... ORPHA:93160
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Short ... OMIM:215045
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Elevated hepatic transaminase, Thrombocytope... OMIM:614727
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Short finger, Severe short stature, Alopecia totalis, Hyperpigmentation ... OMIM:302000
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Enlargement of the ankles, Subperiosteal bone resor... ORPHA:289157
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anem... ORPHA:37748
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Mohr Syndrome
Accessory oral frenulum, Metaphyseal irregularity, Tongue nodules, Lobulated tongue, High palate,... OMIM:252100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar hyperke... ORPHA:1010
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Trichodentoosseous Syndrome
Taurodontia, Abnormal hair morphology, Increased bone mineral density, Microdontia, Widely spaced... OMIM:190320
Hamamy Syndrome
Hip dysplasia, Long philtrum, Hypochromic anemia, Craniosynostosis, Atrial septal defect, Microcy... OMIM:611174
Classic Mycosis Fungoides
Abnormality of the nail, Irregular hyperpigmentation, Abnormal eyelid morphology, Abnormal lympho... ORPHA:2584
Erythrokeratodermia Variabilis
Hypermelanotic macule, Abnormality of the nail, Irregular hyperpigmentation, Patchy palmoplantar ... ORPHA:317
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Hirsutism, Abnormality of the dentition, Synoph... ORPHA:2026
Craniometaphyseal Dysplasia
Abnormality of the metaphysis, Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Microcytic anemia, Pappenheimer... OMIM:600462
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia OMIM:114580
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Mitral val... ORPHA:3238
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Craniosynostosis, Abnormality of epiph... ORPHA:667
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, Anemia, Dental malocclusion, H... OMIM:259730
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Beta-Thalassemia Major
Hyperplasia of the maxilla, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin co... ORPHA:231214
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Smooth philtrum, Hypodontia, Red... OMIM:619322
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Midline notch of upper alveolar ridge,... OMIM:129540
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Sp... OMIM:269920
Bloom Syndrome
Hand polydactyly, Agenesis of maxillary lateral incisor, Decreased circulating IgG level, Syndact... OMIM:210900
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Micrognathia, Flexion contracture, Limb undergrowth, Decr... OMIM:616897
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin co... ORPHA:231226
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Fontaine Progeroid Syndrome
Cryptorchidism, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Scrotal hypop... OMIM:612289
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Severe short stature... OMIM:203550
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Lower limb asymmetry, Abnormality of the knee, Narrow palate, Abnormal palate morp... ORPHA:2063
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Amelogenesis imperfecta, Microretrognathia, Pierre-Robin sequence, Hi... OMIM:618363
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect, Death in infancy, Hepatomegaly, Jaundice, Glosso... OMIM:614876
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypoplasia of teeth, Abnormal hair morphology, Abnormality of dental morphology, Premature loss o... ORPHA:248
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Postnatal growth retardation, Small for gestational age, Micrognathia, Low posterior hairline, Se... ORPHA:73272
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Tooth malposition, Micrognat... OMIM:156400
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Micropenis, Alopecia, Decreased testicular size, Woolly hair, Woo... OMIM:601217
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
W Syndrome
Radial bowing, Pes planus, Camptodactyly, Agenesis of maxillary central incisor, Hypoplasia of th... ORPHA:2804
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Osteoporosis, Elevated h... ORPHA:398063
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Odontochondrodysplasia 1
Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Flat acetabula... OMIM:184260
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Clouston Syndrome
Small nail, Palmoplantar hyperkeratosis, Onycholysis, Absent pubic hair, Absent axillary hair, Ab... OMIM:129500
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Hidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Sparse axillary hair, Generalized hyperpigmentation, Fragile nails, ... ORPHA:189
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:300554
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Aplasia of the 1st metacarpal, Dental crowding, Micrognathia, Pes planus, Complete... ORPHA:476126
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Rhizomelia, Growth delay, Epicanthus, Abnormality of the dentition, Limb un... ORPHA:177
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, A... OMIM:612714
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Blepharophimosis, Poliosis, Patchy alopecia, Short ma... OMIM:141300
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hype... OMIM:613573
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Pyknoachondrogenesis
Stillbirth, Increased bone mineral density OMIM:265880
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the meta... ORPHA:2658
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Growth delay, Absent eyebrow, Decreased body weight, Sparse and th... ORPHA:2985
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Stomatitis, Thrombocytope... OMIM:233600
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the nail, Abnormality of the mouth, Everted lower lip v... ORPHA:181393
Nicolaides-Baraitser Syndrome
Cryptorchidism, Thin vermilion border, Abnormality of the metacarpal bones, Sandal gap, Curly eye... ORPHA:3051
Pycnodysostosis
Delayed eruption of teeth, Osteolysis, Narrow palate, Abnormality of dental morphology, Abnormali... ORPHA:763
Desmosterolosis
Anomalous pulmonary venous return, Narrow mouth, Talipes, Micromelia, Osteopetrosis, Increased bo... ORPHA:35107
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Dental crowding, Short fing... OMIM:190351
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Decreased circul... OMIM:607143
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Abnormality of facial skeleton, Pathologic fracture, Hypercalcem... ORPHA:249
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... OMIM:616278
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Biliary tract obstruction, Increased circulating antibody level, Pericardi... ORPHA:77259
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Nail pits, Decreased helper T cell proportion, Ridged nail, Alopecia, Nail dys... OMIM:601705
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Multiple impacted teet... OMIM:113300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Delayed eruption of teeth, Short phalanx of fing... OMIM:612350
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Microdontia, High palate, High, narrow palate, Widely spaced teeth OMIM:257790
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Upslant... OMIM:215100
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Apla... ORPHA:1988
Atelosteogenesis, Type I
Short metatarsal, Multinucleated giant chondrocytes in epiphyseal cartilage, Micrognathia, Short ... OMIM:108720
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis, Lymphadenopathy ORPHA:158014
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Singleton-Merten Syndrome 1
Carious teeth, Hip subluxation, Expanded metatarsals with widened medullary cavities, Expanded ph... OMIM:182250
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Fanconi-Bickel Syndrome
Hypophosphatemia, Elevated circulating aspartate aminotransferase concentration, Rickets, Hepatoc... ORPHA:2088
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Toe syndactyly, Talipes, Genu recurvatum, Reduced bone mineral density, Short m... ORPHA:2611
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bone... ORPHA:94068
Raine Syndrome
Enamel hypoplasia, Hypophosphatemia, Arthrogryposis multiplex congenita, Narrow mouth, Micrognath... OMIM:259775
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Osteomalacia, ... OMIM:193100
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Upslanted palpebral fissure, Epicanthus, Bilateral single transverse palmar creases, Intrauterine... ORPHA:50812
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Malar flattening, Short long bone... OMIM:146000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Fibrodysplasia Ossificans Progressiva
Short hallux, Synostosis of joints, Ectopic ossification in muscle tissue, Ectopic ossification i... ORPHA:337
Odontochondrodysplasia
Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, ... ORPHA:166272
Pili Torti
Abnormal dental enamel morphology, Abnormal eyebrow morphology, Abnormality of the nail, Abnormal... ORPHA:2889
Macs Syndrome
Cryptorchidism, Joint hypermobility, Cutis laxa, Downslanted palpebral fissures, High palate, Ost... OMIM:613075
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic sweat glands, Abnormality of the nail, Oligodontia, Natal tooth, Hypodontia, Sparse s... OMIM:601345
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Increased bone mineral density ORPHA:178377
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormality of epiphysis ... ORPHA:628
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Aplasia of the distal phalanx of the 5th finger, Abnorm... ORPHA:364577
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Metaphyseal irregularity, Recurrent fractures, Hepatomegaly, Calcinosis, Hyperc... OMIM:239200
Restrictive Dermopathy
Arthrogryposis multiplex congenita, Sparse eyebrow, Narrow mouth, Natal tooth, Scaling skin, Spar... ORPHA:1662
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Salmonella osteomyelitis, Weight l... OMIM:209950
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Premature ovarian insufficienc... ORPHA:100025
L-Ferritin Deficiency
Alopecia OMIM:615604
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, Decreased testicular size, Mandibular pr... ORPHA:3242
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... ORPHA:71267
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of skin pigmentation, Anonychia, Palmoplantar keratoderma, Growth ... ORPHA:79402
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Syndactyly, Anemia ... OMIM:615631
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Tooth abscess, ... ORPHA:289176
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Long philtrum, Broad thumb, Sparse hair, Upslanted palpebral fissure, Thin upper lip vermilion, S... OMIM:617763
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Midshaft hypospadias, Delayed eruption of teeth, Abnorma... ORPHA:2863
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Slow-growing hair, Ivory epiphyses o... OMIM:190350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Hypocalcemia, Osteopetrosis OMIM:618476
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Mandibular prognathia, Natal tooth, Single tra... OMIM:601957
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Abnormal diaph... ORPHA:85184
Coffin-Siris Syndrome 3
Macroglossia, Sparse hair, Aplasia/Hypoplasia of the distal phalanges of the hand, Hirsutism, Lon... OMIM:614608
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Cutaneous syndactyly, Absent eyelashes, Palmoplantar keratoderma, Congenital ony... ORPHA:2890
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Thin vermilion border, Short philtrum, Sparse hair, Abnormal... OMIM:272440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Moynahan Syndrome
Sparse hair, Cachexia, Short stature, Alopecia, Hypogonadism ORPHA:2574
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Sparse hair, Downturned corners of mouth, Abnormal soft... ORPHA:884
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Hypoge... ORPHA:2930
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Death in infancy, Osteopetrosis OMIM:600329
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Decreased circulating antibo... ORPHA:90362
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Hypophosphatemia, Metaphyseal irregularity, Sparse ... OMIM:300009
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Hypoc... OMIM:103580
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricular septal defect, Craniofa... ORPHA:1782
Dysosteosclerosis
Oligodontia, Natal tooth, Increased susceptibility to fractures, High palate, Micrognathia, Scler... OMIM:224300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Hypoplastic toenails, Abnormal dental enamel morpholog... ORPHA:2325
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... OMIM:612463
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Neutropenia, Cleft palat... OMIM:614900
Deafness-Craniofacial Syndrome
Short lingual frenulum, Alopecia OMIM:125230
Pitt-Hopkins Syndrome
Cryptorchidism, Short philtrum, Failure of eruption of permanent teeth, Short metatarsal, Tooth m... ORPHA:2896
Alopecia-Intellectual Disability Syndrome
Hypergonadotropic hypogonadism, Split hand, Growth delay, Flexion contracture, Sparse scalp hair,... ORPHA:2850
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Temple-Baraitser Syndrome
Broad thumb, Open mouth, Short phalanx of the thumb, Short distal phalanx of finger, High palate,... ORPHA:420561
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thin fingernail, Palmoplantar keratoderma, Erythema, Joint stiffness, Alopecia, Dry skin ORPHA:495
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Extramedullary hematopoiesis, Natal toot... ORPHA:313855
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodac... OMIM:170390
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
X-Linked Agammaglobulinemia
Neutropenia, Weight loss, Hypopigmented skin patches, Thrombocytopenia, Sinusitis, Conjunctivitis... ORPHA:47
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Short phalanx of finger, Narrow mouth, Acetabular dysplasia, Short thumb, High p... OMIM:268305
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Osteoporosis, Elevated h... OMIM:212750
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Hypocalcemic tetany... OMIM:612462
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Ridged nail, Alopecia OMIM:614564
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Limited shoulder movement... ORPHA:93284
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Glossopto... ORPHA:440354
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplastic toenails, Onycholysis, ... ORPHA:1028
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Crandall Syndrome
Hypoplasia of penis, Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of th... ORPHA:202
Trisomy 9P
Hypoplastic toenails, Impacted tooth, Downturned corners of mouth, Dental crowding, Fingernail dy... ORPHA:236
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Thick ... ORPHA:2107
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Pes planus, High palate, Deep plantar c... ORPHA:3473
Hutchinson-Gilford Progeria Syndrome
Limited wrist movement, Thin vermilion border, Narrow mouth, Dental crowding, Absent eyebrow, Wei... ORPHA:740
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Small nail, Hypoplastic toenails, Mild short sta... ORPHA:952
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Downslanted palpebral fissures, Hypoplasia of the maxilla, Long philt... ORPHA:915
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Thin vermilion border, Long philtrum, Joint hypermobility, ... OMIM:614856
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Hypocalcemia, Cortical subperiosteal resorption of ... ORPHA:94089
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Dermal translucency, Recurrent fractures, Reduced bone mineral density, Shor... OMIM:619115
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Atransferrinemia
Hypochromic anemia, Atransferrinemia, Abnormality of the liver OMIM:209300
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Mccune-Albright Syndrome
Hypophosphatemia, Abnormality of facial skeleton, Hepatocellular adenoma, Recurrent fractures, Fi... ORPHA:562
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Combined Oxidative Phosphorylation Deficiency 9
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Failure to thrive, Hypertrophic car... OMIM:614582
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Abnormal panc... ORPHA:1190
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Rft1-Cdg
Hepatomegaly, Arthrogryposis multiplex congenita, Failure to thrive ORPHA:244310
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Thin vermilion border, Joint laxity, Metaphyseal irregularity, Central vert... OMIM:602557
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Cryptorchidism, Oral leukoplakia, Premature graying of hair, Growth delay, Intraute... OMIM:613990
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, High palate, Mic... OMIM:613849
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Oculotrichodysplasia
Trichodysplasia, Carious teeth, Generalized hypotrichosis, Agenesis of permanent teeth, Scaling s... OMIM:257960
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Thrombocytosis, Decreased circulati... OMIM:226300
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone m... ORPHA:2720
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypoplasia of teeth, Reticular ... ORPHA:2909
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, D... OMIM:231095
Maternal Uniparental Disomy Of Chromosome 1
Abnormality of limb bone morphology, Epiphyseal stippling, Downturned corners of mouth, Talipes, ... ORPHA:251009
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Frank-Ter Haar Syndrome
Camptodactyly of finger, Delayed eruption of teeth, Short philtrum, Osteolysis, Genu recurvatum, ... ORPHA:137834
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t... OMIM:612447
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev... ORPHA:157215
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Melanocytic nevus, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Dystrophic toenail, Dyst... ORPHA:1882
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Short phalanx of finger, Joint laxity, Recurrent mandibular subluxations, Ging... OMIM:225410
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Hepatomegaly, Splenomegaly, Abnormal mast... ORPHA:98848
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Carious teeth, Craniosynostosis, Phalangeal dislocation, Slender long bones ... ORPHA:536467
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Lack of T cell f... ORPHA:277
Porphyria Cutanea Tarda
Onycholysis, Hyperpigmentation in sun-exposed areas, Alopecia, Facial hypertrichosis OMIM:176100
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dysostosis, Stanescu Type
Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morphology, Macrogl... ORPHA:1798
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Alopecia, Erythema ORPHA:3406
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Sparse hair, Everted lower lip vermilion, Short distal phalanx of fing... ORPHA:181
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shaped epiphysis, Wide... OMIM:266920
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, Long penis, Onychauxis, Mandibular prognathia, High palate, Hypertric... OMIM:262190
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Dental crowding, Broad long bones, Mandibular prognathia, Natal tooth... OMIM:269300
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hypomelanosis Of Ito
Hand polydactyly, Irregularly spaced teeth, Epicanthus, Macular hypopigmented whorls, streaks, an... OMIM:300337
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia OMIM:166750
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Shwachman-Diamond Syndrome
Carious teeth, Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukop... ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synost... ORPHA:221016
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Abnormal bone st... ORPHA:1306
Ivic Syndrome
Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar... OMIM:147750
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Palmoplantar erythema, Nail d... OMIM:104100
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Hypoplasia of teeth, Dent... OMIM:257850
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutro... ORPHA:221008
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Short distal phalanx of finger OMIM:241519
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Toe syndactyly, Abnormality of dental morpholo... ORPHA:978
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High palate, Broad ... OMIM:305620
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Scrotal hypoplasia, Bilateral single transverse... ORPHA:3253
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Joint hypermobility, Narrow mouth, Downturned corners of mouth, Dilatation of ren... ORPHA:3455
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Abnormal pelvis bone morphology,... ORPHA:352540
Hypophosphatemic Rickets
Hypophosphatemia, Rickets, Periapical tooth abscess, Tooth abscess, Bowing of the long bones, Cra... ORPHA:437
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormality of the tongue, Carious teeth, Palmoplantar hyperhidrosis, Osteolysis, Sparse hair, Pa... ORPHA:659
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Facial erythema, Nail dysplasia, Alopecia totalis, Dry skin, Nail dystro... OMIM:212360
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Abnormal heart morphology, Cleft palate OMIM:600252
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Abnormal ab... OMIM:264475
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fractures, Pers... OMIM:147060
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Cornelia De Lange Syndrome 2
Downturned corners of mouth, Hirsutism, Postnatal growth retardation, Downslanted palpebral fissu... OMIM:300590
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Dental crowding, Camptodactyly, High pala... OMIM:616354
Neonatal Severe Primary Hyperparathyroidism
Abnormality of the metaphysis, Recurrent fractures, Hepatomegaly, Splenomegaly ORPHA:417
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Dermal translucency, Drumstick terminal phalanges, Growth delay, Hydronephrosis, In... ORPHA:541423
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Long philtrum, Craniosynostosis, Broad palm, Dental crowding, Widow's peak... OMIM:145420
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Reduced bon... ORPHA:848
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Majeed Syndrome
Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Failure to thrive, Anemia of inade... OMIM:609628
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cel... ORPHA:169154
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Sparse hair, Absent eyelashes, Everte... ORPHA:2316
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Elevated hepatic transaminase, In... ORPHA:540
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Impaired Ig class switch recombination,... OMIM:608184
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Cleidocranial Dysplasia
Enamel hypoplasia, Narrow palate, Hypoplastic frontal sinuses, Increased bone mineral density, In... OMIM:119600
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Carious teeth, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of... OMIM:612843
Peroxisome Biogenesis Disorder 7A (Zellweger)
Long philtrum, Epiphyseal stippling, High palate, Death in infancy, Hepatomegaly, Jaundice, Talip... OMIM:614872
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Dental crowding, Hypoplastic frontal sinuses, Hypodontia,... OMIM:253250
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Joint hypermobility, Recurrent fractures, Dermal translucency, Short stature OMIM:619120
Opsismodysplasia
Hypophosphatemia, Squared iliac bones, Long philtrum, Rhizomelia, Metaphyseal cupping, Hypoplasti... OMIM:258480
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Aplastic anem... OMIM:615122
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Hypopigmentation of hair, Albinism, Short stature, Pallor, Hypopigmentation of the ... ORPHA:2786
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Flexion contracture, Death in infancy, Hepatomegaly, Splenomegaly, Microgn... OMIM:608540
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Autoamputation of digits, Osteolysis, Honeycomb palmoplantar hyperkerato... ORPHA:494
Immunodeficiency 49
Short philtrum, Lymphopenia, Hirsutism, Natal tooth, Cutis laxa, Upslanted palpebral fissure, Sho... OMIM:617237
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Cornelia De Lange Syndrome 5
Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Hirsutism, Postnatal growth r... OMIM:300882
Cantu Syndrome
Short hallux, Long philtrum, Osteoporosis, Erlenmeyer flask deformity of the femurs, Hypoplastic ... OMIM:239850
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Reduced bone mineral density, Jaundice, Failure to thriv... ORPHA:172
Sézary Syndrome
Irregular hyperpigmentation, Palmoplantar keratoderma, Ectropion, Abnormal lymphocyte morphology,... ORPHA:3162
Camurati-Engelmann Disease
Slender build, Genu valgum, Carious teeth, Mandibular prognathia, Cortical thickening of long bon... OMIM:131300
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Hypoplastic frontal sinuses, Abn... ORPHA:90652
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Delayed puberty, Small for gestational age, Hyperpigmented nevi, ... ORPHA:2959
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Craniolenticulosutural Dysplasia
Abnormality of skin pigmentation, Long philtrum, Thin vermilion border, Carious teeth, Delayed er... ORPHA:50814
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Ventricular hypertrophy, Atrial septal defect, Persistenc... OMIM:612561
Alpha-Mannosidosis
Hip dysplasia, Open bite, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperos... ORPHA:61
Laron Syndrome
Delayed eruption of teeth, Hypercholesterolemia, Tooth agenesis, Truncal obesity, Short toe, Micr... ORPHA:633
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Increased body weight, Anemi... OMIM:614450
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Acrootoocular Syndrome
Small hypothenar eminence, Grayish enamel, Sandal gap, Small for gestational age, Hyperpigmented ... ORPHA:2980
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Limited elbow extension, Failure of eruption of permanent teeth, Tarsal synost... OMIM:272460
48,Xxyy Syndrome
Hip dysplasia, Open bite, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of t... ORPHA:10
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Bowing of the long bones, Recurrent fractures, Hyperu... OMIM:239000
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Spotty hypopigmentation, Short finger... ORPHA:1867
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Genu recurvatum, Maxillary lateral incisor microdontia, Prominent medi... OMIM:300602
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of skin pigmentation, Cryptorchidism, Palmoplantar cutis gyrata, Narrow mouth, Joint ... ORPHA:75496
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Weismann-Netter Syndrome
Squared iliac bones, Anterior tibial bowing, Fibular bowing, Calvarial hyperostosis, Delayed erup... OMIM:112350
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Bone marrow hypocellularity, Anemia, Neoplasm of the pa... ORPHA:1775
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Schimke Immuno-Osseous Dysplasia
Hypoplastic pelvis, Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion o... ORPHA:1830
Rapp-Hodgkin Syndrome
Narrow mouth, Progressive alopecia, Hypoplasia of the maxilla, Onychogryposis, Syndactyly, Cleft ... OMIM:129400
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Abnormal thumb morphology, Abnormality of epiphysis morphology, Talipes, Rh... ORPHA:1842
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Short philtrum, Microcytic anemia OMIM:618451
Vascular Malformation, Primary Intraosseous
Hypochromic anemia, Gingival bleeding OMIM:606893
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Long philtrum, Thin vermilion border, Hypocalcemia, Small hand, Short foot... OMIM:241410
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, High palate, ... OMIM:201000
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Increased overbite, C... OMIM:618761
Johnson Neuroectodermal Syndrome
Carious teeth, Sparse hair, Absent eyelashes, Growth delay, Absent eyebrow, Alopecia, Cleft palat... OMIM:147770
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocation, Abnorma... ORPHA:1458
Dentin Dysplasia With Sclerotic Bones