Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
Synonyms:
V-ATPase a3,  OC-116,  TIRC7,  ATP6a3,  Atp6i

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Tcirg1 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 predicted to be associated to Tcirg1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Torus palatinus, Osteopetrosis, Generalized osteosclerosis, Calvarial osteoscler... OMIM:607634
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, De... OMIM:611497
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Delayed epiphyseal ossificatio... OMIM:600785
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Spastic Paraplegia 33, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Lower limb spasticity, Spastic gait, Babinski sign, Talipes equ... OMIM:610244
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, Delayed ep... OMIM:277440
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruption of primar... OMIM:265800
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Bone marrow h... OMIM:166600
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Failure to thriv... OMIM:618495
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Bulging epiphyses, Enamel hypoplasia, Subperiosteal bone resorption, Delayed ep... OMIM:264700
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Long thumb, Delayed tarsal ossification, Flat acetabular roof, Dela... OMIM:600002
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Metaphyseal cupping, Bowing of the legs, Flared metaphysis, Genu ... OMIM:619073
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Recurrent fractu... OMIM:259710
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Pyle Disease
Genu valgum, Limited elbow extension, Delayed eruption of teeth, Carious teeth, Hypoplastic front... OMIM:265900
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Carious teeth, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Ste... ORPHA:93324
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, R... OMIM:600081
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... ORPHA:2645
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Contractures involving the... OMIM:614335
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Rickets, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Hypophosphatasia, Adult
Carious teeth, Rickets, Premature loss of permanent teeth, Recurrent fractures, Premature loss of... OMIM:146300
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immuni... ORPHA:277
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Albers-Schönberg Osteopetrosis
Hypocalcemia, Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Recurrent fracture... ORPHA:53
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia, Increased bone mineral density OMIM:190320
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mine... OMIM:259700
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
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Osteomalacia OMIM:193100
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 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Arthrogryposis, Distal, Type 2E
Arthrogryposis multiplex congenita, Narrow mouth, Joint contractures involving the joints of the ... OMIM:121070
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Tibiofibular diast... ORPHA:566943
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Overlapping fingers, Arthrogryposis multiplex congenita, Externally rotated hips, Talipes equinov... OMIM:616531
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Arthrogryposis multiplex congenita, Micrognathia, Deep philtrum, Tr... OMIM:158300
Craniometaphyseal Dysplasia
Abnormality of the metaphysis, Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Hypercholanemia, Familial 1
Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive OMIM:607748
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus, Apraxia, Ataxia ORPHA:85338
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Genu valgum, Osteolysis, Bone cyst, Recurrent fractures, Abnormal... ORPHA:93160
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, H... OMIM:241530
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow i... OMIM:601668
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, H... OMIM:300554
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Neuropathy, Hereditary Motor, With Myopathic Features
Scapular winging, Frequent falls, Distal upper limb muscle weakness, Flexion contracture, Proxima... OMIM:619216
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Generalized osteosclerosis, Short ribs, Flared... OMIM:215045
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormal cortical bone morphology, Limb undergrowth, Increas... ORPHA:2204
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Radial deviation of finger, Clinodactyly, Osteopenia, Micrognathia OMIM:608747
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Flexion contracture, Lower limb spasticity, Spastic gait, Babinski sign, Tali... OMIM:613162
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... ORPHA:3352
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Failure to thrive, Splenomegaly OMIM:269840
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Increased T3/T4 ratio, Impai... OMIM:614450
Eiken Syndrome
Short toe, Abnormal bone ossification, Delayed epiphyseal ossification, Short phalanx of finger, ... ORPHA:79106
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density, Failure to thrive ORPHA:172
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Fibrous Dysplasia Of Bone
Abnormality of tibia morphology, Increased circulating cortisol level, Abnormality of facial skel... ORPHA:249
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Dental crowding, Short fing... OMIM:190351
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count, Stillbirth, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia... OMIM:259720
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Increased bone mineral density ORPHA:178377
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Carious teeth, Slender long bone, Small hand, Decreased skull ossification, Short f... OMIM:244460
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp... ORPHA:482
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac wing, Increased bone miner... ORPHA:2780
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal ga... OMIM:618435
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Boutonneuse Fever
Increased circulating IgM level, Lymphadenopathy, Thrombocytopenia, Increased circulating IgG lev... ORPHA:83313
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Failure to thrive in infancy, Increased proportion... OMIM:617099
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Hyporeflexia of upper limbs, Distal upper limb muscle weakness, Jo... ORPHA:178145
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Growth delay, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopenia, Decreased specific ... OMIM:300853
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Delayed eruption of teeth, Cortical subperiosteal resorption of ... ORPHA:94089
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Pseudohypoparathyro... OMIM:612463
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Upper limb amyotrophy, Babinski s... ORPHA:496689
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Arthrogryposis multiplex congenita, Cleft palate, Talipes equinovarus, Microg... OMIM:616570
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... ORPHA:71267
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture OMIM:208100
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Familial Expansile Osteolysis
Osteolysis, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin bony cortex, Prema... OMIM:174810
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, B... OMIM:231095
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Growth delay, Thrombocytope... ORPHA:169079
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Insulin resistance, Everted lower lip vermil... ORPHA:181393
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia, Failure to thrive OMIM:602722
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Failure to thrive, Lymphadenopathy OMIM:618048
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
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
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Tooth malposition, Mandibular prognathia, ... ORPHA:2769
Dent Disease 1
Hypophosphatemia, Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, R... OMIM:300009
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, High palate, Increased bone mineral density, Obtuse angle of mandible, Ab... ORPHA:85184
Metatropic Dysplasia
Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossification, Halber... ORPHA:2635
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scapular winging, Achilles tendon contracture, Hip contracture, Knee flexion contracture, Fascicu... OMIM:615290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Epiphyseal stippling, Small for gestational age, Goiter OMIM:274300
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Narrow mouth, Short distal phalanx of finger, Sandal ga... OMIM:311300
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Narrow mouth, Femur fracture, Smooth philtrum, Hypodontia, Red... OMIM:619322
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Trismus, Multiple joint contractures, ... ORPHA:916
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Thin vermilion border, Long philtrum, Short palm, Small hand, Short foot, Bifid uvu... OMIM:241410
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Hypocalcemia, Osteopetrosis OMIM:618476
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Fryns Macrocephaly
Spastic paraplegia, Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of perma... OMIM:600302
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Hip dysplasia, Rickets, Joint hyperflexibility, Avascular necrosis of the capital f... ORPHA:1901
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
48,Xxyy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Broad jaw, Type II d... ORPHA:10
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Ck Syndrome
Slender build, Joint hypermobility, Dental crowding, Abnormal cortical bone morphology, Abnormal ... OMIM:300831
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, High palate, Mic... OMIM:613849
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Laron Syndrome
Delayed eruption of teeth, Hypohidrosis, Hypoglycemia, Tooth agenesis, Brachydactyly, Truncal obe... ORPHA:633
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Extramedullary hematopoiesis, Natal toot... ORPHA:313855
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, High, narr... ORPHA:3238
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Long philtrum, Delayed eruption of teeth, Short phalanx of fin... OMIM:184260
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contracture, Thin verm... OMIM:619110
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Dysgammaglobulinemia, Anemia, Splenomegaly, Premature ovarian insuffi... ORPHA:100025
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Osteopetrosis, Cranial hyperostosis, ... OMIM:259730
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Osteogenesis Imperfecta, Type V
Joint hypermobility, Recurrent fractures, Abnormality of the dentition, Anterior radial head disl... OMIM:610967
Hypophosphatemic Rickets
Hypophosphatemia, Abnormality of the dentition, Rickets, Tooth abscess, Bowing of the long bones,... ORPHA:437
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Genu valgum, Acetabular dysplasia, Coxa valga OMIM:613618
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Hemiatrophy, Advanced pneumatization of cranial sinuses, Den... ORPHA:306741
Immunodeficiency 8
Lymphopenia OMIM:615401
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Talipes equinovarus, Abnormal foot morphology, Par... OMIM:613710
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Autosomal Recessive Spastic Paraplegia Type 59
Spastic paraplegia, Talipes equinovarus, Lower limb spasticity, Spastic gait, Limb hypertonia, Cl... ORPHA:401795
Immunodeficiency 40
Lymphopenia OMIM:616433
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Upper limb amyotrophy, Limb fasciculations ORPHA:99940
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia, Failure to thrive OMIM:611590
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormality of epiphysis ... ORPHA:628
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Abnormality of the philtrum, ... ORPHA:2863
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Erythema Of Acral Regions
Talipes equinovarus, Abnormality of the dentition OMIM:227000
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Growth de... OMIM:615767
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Short stature OMIM:610798
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared metaphysis, Delay... OMIM:601561
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Pancytopenia, Progressive cerebellar ataxia, Small f... OMIM:210740
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Dislocated radial head, Joint hypermobility, Thin vermilion border, Long philtrum, ... OMIM:614856
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemi... ORPHA:289176
Intellectual Developmental Disorder With Autism And Speech Delay
Joint laxity, Stereotypy OMIM:606053
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Maturity-onset diabetes of the young, Hypothyroidism, Hypoinsuli... ORPHA:99886
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Odontochondrodysplasia
Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, ... ORPHA:166272
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral head and n... ORPHA:2114
Hyperekplexia 4
Hypertonia, Camptodactyly, Flexion contracture, High palate, Distal arthrogryposis, Myoclonus, Ta... OMIM:618011
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnormal palate morphology, ... ORPHA:2097
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Growth delay, Hepatomegaly, Hypereo... OMIM:617388
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231226
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Obesity OMIM:605309
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Rickets, Hypokalemia, Osteomalacia OMIM:134600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea... ORPHA:169160
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Anterior rib punctate calcifications, Abnormal pelvis bon... ORPHA:1426
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Camptodactyly of finger, Dislocated radial head, Joint laxity, Short p... OMIM:612350
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the metacarpal bones, In... ORPHA:2658
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Pseudohypoparathyro... OMIM:612462
T-Cell Receptor-Alpha/Beta Deficiency
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Sanjad-Sakati Syndrome
Hypocalcemia, Thin vermilion border, Abnormal dental enamel morphology, Long philtrum, Abnormalit... ORPHA:2323
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Enamel hypoplasia, Short toe, Delayed eruption of teeth, Short metatarsal, Short fi... OMIM:103580
Dysostosis, Stanescu Type
Carious teeth, Massively thickened long bone cortices, Abnormal dental enamel morphology, Macrogl... ORPHA:1798
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Abnormality of finger, Patchy reduction of bone mineral d... ORPHA:73
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Short palm, Macroorchidism, Maxillary lateral incisor microdontia, Exa... OMIM:300602
Osteoporosis
Osteoporosis OMIM:166710
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Hypohidrosis, Everted lower lip vermilion, Short distal phalanx of fin... ORPHA:181
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Beta-Thalassemia Major
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231214
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Nescav Syndrome
Talipes equinovarus, Flexion contracture, Babinski sign, Spasticity OMIM:614255
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Wide anterior fontanel, Dental crowding, Broad long bones, Mandibular... OMIM:269300
4H Leukodystrophy
Dysdiadochokinesis, Delayed eruption of teeth, Tremor, Drooling, Abnormality of extrapyramidal mo... ORPHA:289494
Dysosteosclerosis
Oligodontia, Natal tooth, Increased susceptibility to fractures, High palate, Micrognathia, Scler... OMIM:224300
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Joint laxity, Short phalanx of finger, Clinodac... OMIM:170390
Spastic Paraplegia 47, Autosomal Recessive
Spastic paraplegia, Short philtrum, Genu recurvatum, Pes planus, High palate, Flexion contracture... OMIM:614066
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Abnormal cartilage morpho... ORPHA:93284
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Ataxia, Hypodontia, Involuntary movements, Sp... OMIM:615905
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly, Intrauterine ... OMIM:615846
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Short philtrum, Drooling, Mandibular prognathia, High palate, Wide mouth, Spa... OMIM:612936
Fanconi-Bickel Syndrome
Hypophosphatemia, Rickets, Bowing of the long bones, Hypertriglyceridemia, Failure to thrive, Ost... ORPHA:2088
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Short metacarpal, Talipes equinovarus, Brachydacty... OMIM:226900
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Talipes equinovarus, Spasticity OMIM:615683
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Hyperostosis, Increased susceptibility to fractures, Epip... OMIM:604922
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Abnormality of the dentition, Radial deviation of finger, Cli... OMIM:309610
Atkin-Flaitz Syndrome
Genu valgum, Joint laxity, Short palm, Macroorchidism, Maxillary lateral incisor microdontia, Exa... OMIM:300431
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Failure to thrive OMIM:613501
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Enamel hypoplasia, Rickets, Stomatitis, Weight loss, Steatorrhea, Dec... OMIM:212750
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Elevated circulating thyroid-stimulating hormon... OMIM:601812
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Failure to thrive OMIM:607765
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Insulin resistance, Hypoglycem... ORPHA:73272
Gracile Bone Dysplasia
Hypocalcemia, Ankyloglossia, Slender long bone, Flared metaphysis, Failure to thrive, Decreased s... OMIM:602361
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Lympha... OMIM:617827
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Short fifth metatarsal, Short 3rd metacarpal, Short metatarsal, ... ORPHA:79444
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... OMIM:264475
Ehlers-Danlos Syndrome, Classic Type, 2
Joint hypermobility, Congenital hip dislocation, Generalized joint laxity, Recurrent sinusitis, T... OMIM:130010
Pycnodysostosis
Delayed eruption of teeth, Short toe, Osteolysis, Narrow palate, Abnormality of dental morphology... ORPHA:763
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Growth delay, Chronic lymphatic leukemia, Shor... OMIM:616005
Arthrogryposis, Distal, Type 1A
Arthrogryposis multiplex congenita, Congenital hip dislocation, Narrow mouth, Stiff shoulders, Ca... OMIM:108120
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Thin vermilion border, Narrow mouth, Abnormality of the metacarpal bones, Reduced ... ORPHA:2370
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Apraxia, Dental crowding, Camptodactyly, ... OMIM:616354
Hypophosphatasia
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Abnormality of the dentition, Fa... ORPHA:436
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Weaver Syndrome
Camptodactyly of finger, Long philtrum, Broad thumb, Finger syndactyly, Joint hyperflexibility, H... ORPHA:3447
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Flexion contracture, Recurrent fractures, ... ORPHA:1306
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Increased overbite, C... OMIM:618761
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Osteomalacia, Pathologic fracture OMIM:179800
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Peroneal muscle atrophy OMIM:181400
Desmosterolosis
Narrow mouth, Osteopetrosis, Submucous cleft hard palate, Increased bone mineral density, Metatar... ORPHA:35107
Cohen Syndrome
Joint hypermobility, Short philtrum, Genu valgum, Short metatarsal, Open mouth, Neutropenia, Macr... OMIM:216550
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Abnormality of the medullary cavity of the long bones, Transient hypophosphatemia, ... OMIM:127000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Long philtrum, Aplasia of the 1st metacarpal, Dental crowding, Micrognathia, 2-3 toe syndactyly, ... ORPHA:476126
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Renal hypophosphatemia,... ORPHA:1652
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Caffey Disease
Periosteal thickening of long tubular bones, Increased circulating antibody level, Cortical thick... ORPHA:1310
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Multiple impacted teet... OMIM:113300
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Abnormality of epiphysis morphology, Decreased circulating T4 level, Absent... ORPHA:226313
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Long philtrum, Narrow mouth, Micrognathia, Camptodactyly, High pala... OMIM:277720
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Ataxia, Gingival ... ORPHA:2026
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Nemaline Myopathy 11, Autosomal Recessive
Talipes equinovarus, High palate, Scapular winging, Pes cavus OMIM:617336
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptodactyly, Aplasia/Hypop... OMIM:113000
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Metaphyseal dysplasia... OMIM:250460
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Failure to thrive OMIM:560000
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Abnormal cortical bone morphology, Arthritis, Clubbing of toes, ... ORPHA:1525
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Bowing of the long bones, Recurrent fractures, Hyperu... OMIM:239000
Baker-Gordon Syndrome
Joint laxity, Hyperkinetic movements, Smooth philtrum, Ataxia, Thin upper lip vermilion, Stereoty... OMIM:618218
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Abnormality of the dentiti... ORPHA:177
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Scapular winging, Arthrogryposis multiplex congenita, Dental crowding, Micrognathia, Camptodactyl... OMIM:617468
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Abnormality of epiphysis morphology, Synovitis, Reduced bone... ORPHA:85435
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Metaphyseal dysplasia... ORPHA:557003
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Abnorm... ORPHA:2107
Neuronopathy, Distal Hereditary Motor, Type Viii
Arthrogryposis multiplex congenita, Proximal lower limb amyotrophy, Pes planus, Hip contracture, ... OMIM:600175
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus ORPHA:238578
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, Flexion cont... OMIM:618291
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Glucose intolerance, Hyperg... OMIM:269880
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Mul... OMIM:215140
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones, ... ORPHA:93351
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Osteolysis, Camptodactyly of finger, Mandibular progna... ORPHA:137834
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal os... ORPHA:95716
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Narrow palate, Abnormal palate morphology, Tooth agenesis, Abnormality of femur mo... ORPHA:2063
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Short 5th metacarpal, Abnormality of the dentition, Supernumerary tooth, Abnormality... ORPHA:1264
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Abnormality of the mouth, Abnormality of the ph... ORPHA:2671
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Tremor, R... ORPHA:96263
Pseudodiastrophic Dysplasia
Elbow dislocation, Phalangeal dislocation, Rhizomelia, Talipes equinovarus, Malar flattening ORPHA:85174
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Delayed eruption of teeth, Craniosynostosis, Abnormality of epiph... ORPHA:667
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia, Abnormality of the tarsal bones, Abnormal pelvis bone morphology,... ORPHA:352540
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Immunodeficiency 54
Postnatal growth retardation, Intrauterine growth retardation, Hepatomegaly, Reduced natural kill... OMIM:609981
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Clubbing of fingers, Metaphyseal chondrodysplasia, Tooth malposition, Bowing of... OMIM:156400
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, ... ORPHA:79443
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia, Limitation of... ORPHA:3145
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Arthrogryposis multiplex congenita, Hypertonia, Small hand, Spastic tetraplegia, Stereotypy, Shor... OMIM:615282
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia OMIM:122900
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures OMIM:256720
Cystinosis
Hypophosphatemia, Rickets, Hypokalemia, Failure to thrive ORPHA:213
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Thin vermilion border, Joint laxity, Metaphyseal irregularity, Central vert... OMIM:602557
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Oligodontia, Short finger, Short metacarpal, Supernumerary toot... OMIM:191482
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Metacarpal periosteal thickening, Hypercalcemia, Osteopenia, Calvarial osteosclerosis, Hyperphosp... OMIM:617994
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular progn... OMIM:101800
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Long philtrum, A... OMIM:601680
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Talipes equinovarus, Spastic gait, Spastic tetraparesis OMIM:616486
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Decreased circulating IgA lev... OMIM:612301
Epiphyseal Chondrodysplasia, Miura Type
Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal dysplasia OMIM:615923
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Short toe, Short finger, Dental malocclusion, Gra... ORPHA:2980
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Metaphyseal dysplasia, Failure to thrive, El... OMIM:614727
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Amelogenesis imperfecta, Microretrognathia, Pierre-Robin sequence, Hi... OMIM:618363
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Large for gestational age OMIM:616026
Cleidocranial Dysplasia
Enamel hypoplasia, Narrow palate, Hypoplastic frontal sinuses, Increased bone mineral density, In... OMIM:119600
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Joint hyperflexibility, ... ORPHA:2484
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormality of the metaphysis, Limited elbow extension, Rhizomelia, Joint hyperflex... ORPHA:175
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short sta... OMIM:618116
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Increased susceptibility to fractures, Elevated hepatic ir... ORPHA:231222
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Clonus, Babinski sign, Talipes equinovarus OMIM:615035
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... OMIM:259440
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Patellar subluxation, Finger clinodactyly, Abnormal number of incisors, Bilateral t... ORPHA:2958
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Wide anterior fontanel, Decreased calvarial ossification, Recurrent fracture... OMIM:259420
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short foot, Talipes e... ORPHA:52056
Blomstrand Lethal Chondrodysplasia
Long philtrum, Synostosis of joints, Abnormality of epiphysis morphology, Rhizomelia, Bowing of t... ORPHA:50945
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Growth delay, Short stature, Failure to thrive OMIM:617744
Carcinoma Of Esophagus
Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Severe short stature, Intrauterine growth retardation, Decreased circulating total I... ORPHA:2643
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Roussy-Lévy Syndrome
Postural tremor, Genu valgum, Gait ataxia, Clumsiness, Intrinsic hand muscle atrophy, Limb ataxia... ORPHA:3115
Ring Chromosome 10 Syndrome
Hypocalcemia, Thin vermilion border, Long philtrum, Sandal gap, Cachexia, Micrognathia, Tapered f... ORPHA:1438
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Talipes equinovarus, Frequent falls, Spasticity OMIM:616719
Coxoauricular Syndrome
Reduced bone mineral density, Abnormality of femur morphology, Hip dislocation, Abnormality of pe... ORPHA:1508
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Maffucci Syndrome
Neoplasm of the parathyroid gland, Osteolysis, Goiter, Ovarian neoplasm, Recurrent fractures, Mul... ORPHA:163634
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Periodontitis, Delay... OMIM:619269
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Craniosynostosis, Decreased calvarial ossification, Metaphyseal cu... OMIM:241500
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Perrault Syndrome 1
Osteoporosis, Gait ataxia, High palate, Spastic diplegia, Pes cavus, Talipes equinovarus OMIM:233400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs OMIM:610539
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Ataxia, Short mandibular rami, Dental malocclusion, Tongue atrophy OMIM:141300
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Trichorhinophalangeal Syndrome, Type I
Coxa magna, Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Short metatar... OMIM:190350
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
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Decreased circul... OMIM:607143
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Finger syndact... ORPHA:915
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Hip dysplasia, High palate, 2-3 toe syndactyly... OMIM:616809
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Abnormality of dental morphology, Recurrent fractures, Ste... ORPHA:2176
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Triphalangeal th... OMIM:604757
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Large iliac wing, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Aplastic cl... ORPHA:2636
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Leukocytosis, Increased circulatin... ORPHA:3392
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Meta... OMIM:234250
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, Short 5th metaca... ORPHA:1350