Registered for phenotyping at IMPC

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

Gene Summary

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

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 With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Bulging epiphyses, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Caspase 8 Deficiency
Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:607271
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... ORPHA:397596
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... OMIM:619073
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic... OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal... ORPHA:98813
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... ORPHA:93324
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Osteoglosphonic Dysplasia
Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Multiple unerupted teet... ORPHA:2645
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Arthrogryposis, Distal, Type 7
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ... OMIM:158300
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr... OMIM:618495
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F... OMIM:259700
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Albers-Sch├Ânberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener... ORPHA:53
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... ORPHA:1423
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs OMIM:146350
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the dentition, Rickets, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Increased circulating IgE level, Lack o... ORPHA:277
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... OMIM:614335
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... OMIM:241530
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Hypercholanemia, Familial 1
Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Ventriculomegaly And Arthrogryposis
Ulnar deviation of the wrist, Micrognathia, Talipes equinovarus, Hand clenching, Arthrogryposis m... OMIM:619501
Arthrogryposis, Distal, Type 2E
Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Talipes equinovarus, Narrow... OMIM:121070
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... ORPHA:79445
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... ORPHA:63442
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... OMIM:619795
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long... OMIM:619489
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition,... ORPHA:93160
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... OMIM:614450
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... OMIM:190351
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Kenny-Caffey Syndrome, Type 1
Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal... OMIM:244460
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... OMIM:620099
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... OMIM:269840
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... ORPHA:2780
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Failure to thrive, Decreased proportion of naive T... ORPHA:276
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Obesity, Hyperphosph... OMIM:612462
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... OMIM:618435
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ... OMIM:617306
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Joint hyperflexibility, Distal upper limb muscle weakness, Knee di... ORPHA:178145
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... ORPHA:71267
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteopor... OMIM:612463
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Short stature, Postnatal growth retardation, Splen... OMIM:620210
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor... OMIM:174810
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Rickets OMIM:602722
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Marbach-Rustad Progeroid Syndrome
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... OMIM:619322
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... OMIM:118651
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Hemidystonia-Hemiatrophy Syndrome
Rhizomelic leg shortening, Abnormal paranasal sinus morphology, Hemiatrophy, Advanced pneumatizat... ORPHA:306741
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Pseudoachondroplasia
Irregular acetabular roof, Limited hip extension, Distal joint laxity, Generalized joint laxity, ... ORPHA:750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Distal upper limb... OMIM:619216
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Dent Disease 1
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... ORPHA:85184
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... ORPHA:1901
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Ck Syndrome
Dental crowding, Micrognathia, Abnormal digit morphology, Retrognathia, High palate, Malar flatte... OMIM:300831
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Talipes equinovarus OMIM:208100
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... OMIM:122860
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Ramon Syndrome
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma... ORPHA:3019
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Rocker botto... OMIM:619110
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis OMIM:620009
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets, Bowing of the legs OMIM:615605
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Cleft pal... ORPHA:2635
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea... OMIM:618476
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Anemia ORPHA:100025
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... ORPHA:169079
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Aase-Smith Syndrome
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... ORPHA:916
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Ost... OMIM:184260
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Cardiospondylocarpofacial Syndrome
High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos... ORPHA:3238
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persiste... OMIM:265800
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Laron Syndrome
Delayed eruption of teeth, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Short... ORPHA:633
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Acetabular dysplasia, Genu valgum, Talipes equinovarus, Coxa valga OMIM:613618
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Abnormality of the dentition OMIM:615269
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... OMIM:617974
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosp... OMIM:241410
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Rickets OMIM:611590
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory... OMIM:615767
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal res... ORPHA:94089
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... OMIM:301082
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... OMIM:610967
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Obesity, ... OMIM:103580
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp... ORPHA:166272
Grant Syndrome
Bowing of the long bones, Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexi... ORPHA:2097
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Erythema Of Acral Regions
Talipes equinovarus, Abnormality of the dentition OMIM:227000
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Attention ... OMIM:618761
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa... OMIM:214150
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... OMIM:259730
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Flat acetabular... ORPHA:163649
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... ORPHA:231226
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... ORPHA:1782
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Intellectual Developmental Disorder With Autism And Speech Delay
Joint laxity, Abnormal repetitive mannerisms OMIM:606053
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... ORPHA:1798
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T... OMIM:612350
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets, Weight loss, Hypocalcemia, Recurrent aphthous stomatitis, Steatorrhea, Sto... OMIM:212750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Hypoglycemia, Small for gestational age, Micrognathia, ... ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... OMIM:617194
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Gracile Bone Dysplasia
Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull ossificati... OMIM:602361
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... ORPHA:169160
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Failure to thrive in infancy, Growth delay, T lymphocytopenia, D... OMIM:619510
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... ORPHA:231214
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph... ORPHA:73
Filippi Syndrome
2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor... OMIM:272440
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced nat... OMIM:242860
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit... OMIM:300602
Osteoporosis
Osteoporosis OMIM:166710
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn... OMIM:259720
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Hypohidrosis, Everted lower lip vermilion... ORPHA:181
Desmosterolosis
Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Submucous cleft ha... ORPHA:35107
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bowing of the a... OMIM:301014
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit... ORPHA:2323
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Ulnar deviation of the hand, Narrow mouth, Talipes equinovarus, Camptodactyly, Ove... OMIM:618436
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... ORPHA:2863
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con... OMIM:616570
Rubinstein-Taybi Syndrome 2
Syndactyly, Hyperactivity, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu... OMIM:613684
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... ORPHA:50811
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh... OMIM:618392
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca... OMIM:269300
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Rickets, Hypophosphatemia, Failure to... ORPHA:2088
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism OMIM:300434
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani... ORPHA:436
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Ehlers-Danlos Syndrome, Classic Type, 2
Congenital hip dislocation, Generalized joint laxity, Talipes equinovarus, Recurrent sinusitis, J... OMIM:130010
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn... OMIM:616531
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial ... ORPHA:476126
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe... OMIM:618363
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... ORPHA:100973
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Pseudohypoparathyroidism Type 1C
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fi... ORPHA:79444
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... OMIM:113300
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus, Aggressive behavior OMIM:615683
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Talipes equinovarus, Dysphagia, Peroneal muscle atrophy OMIM:181400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia... ORPHA:2370
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Tapered finger, Aggressive behavior, Wide mouth, High... OMIM:618825
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... OMIM:112350
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... ORPHA:667
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... OMIM:608184
Epiphyseal Dysplasia, Multiple, 4
Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epiphysis, Limited elbow f... OMIM:226900
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphade... OMIM:615934
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... ORPHA:313855
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... ORPHA:95716
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... OMIM:127000
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... ORPHA:141152
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Decreased circulating total IgM, Osteopetros... OMIM:612301
Prieto Syndrome
Coxa valga, Abnormality of the dentition, Osteoporosis, Patellar subluxation, Talipes equinovarus... OMIM:309610
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Precocious puberty, Narrow mouth, Head-banging, Delayed eruption of permanent teeth... OMIM:619356
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn... ORPHA:177
Cohen Syndrome
Short metacarpal, Small for gestational age, Decreased response to growth hormone stimulation tes... OMIM:216550
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Thick ver... OMIM:309548
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... ORPHA:1133
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Recurrent fractures, Osteomalacia,... ORPHA:1652
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi... ORPHA:137834
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Cystinosis
Hypokalemia, Failure to thrive, Rickets, Hypophosphatemia ORPHA:213
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteo... OMIM:612840
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus ORPHA:238578
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... OMIM:108120
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger... ORPHA:1525
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... ORPHA:1486
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Growth delay, Increased circulating IgG level, Dec... OMIM:243700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Hypercalcemia, Craniosynostosis OMIM:614732
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... OMIM:602080
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Abnormal fibula morphology, ... ORPHA:2063
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... ORPHA:3145
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... OMIM:616809
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... ORPHA:2107
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... OMIM:300244
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Oligodontia, Short 5th finger... ORPHA:557003
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly OMIM:613382
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus OMIM:610244
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... ORPHA:96263
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Micrognathia, Narrow mouth, Whistling appearance, Trismus, Elbow fl... OMIM:277720
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Cleft palate... OMIM:614078
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... ORPHA:1264
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... OMIM:619736
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... ORPHA:2025
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... ORPHA:1263
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr... ORPHA:166002
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... ORPHA:166108
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... ORPHA:79303
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion... ORPHA:2671
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Pseudohypoparathyroidism Type 1A
Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p... ORPHA:79443
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Arachnodactyly, Dental crowding, Aggressive behavior, Micrognathia, Narrow ... ORPHA:251019
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox... ORPHA:2484
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c... OMIM:156400
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Cleft upper lip, Hypoplasi... ORPHA:915
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Decreased body weight, Hyperactivity, Dental crowding, Persistence of primary teeth... OMIM:618342
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov... OMIM:600175
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... OMIM:131300
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... OMIM:615122
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... OMIM:259440
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Pseudodiastrophic Dysplasia
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Malar flattening ORPHA:85174
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Cleft palate, ... ORPHA:2631
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Widely spaced ... OMIM:618067
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... OMIM:601680
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Small for gestational age, Tapered finger, Aggressive be... OMIM:609425
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ... ORPHA:175
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... ORPHA:50945
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Momo Syndrome
Delayed eruption of teeth, Large for gestational age, Abnormality of the thyroid gland, Thick low... ORPHA:2563
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus ORPHA:85288
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... ORPHA:420561
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, S... ORPHA:443811
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Calcinosis, Small for ge... ORPHA:2909
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Micrognathia, Talipes equinovarus, Overlapping fingers, Joint contracture OMIM:618266
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... OMIM:618506
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ... OMIM:618116
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Long philtr... OMIM:616354
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Dental crowding, Ankle flexion contracture, Micrognathia, Flex... OMIM:617468
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... OMIM:619269
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Rothmund-Thomson Syndrome Type 1