| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... |
OMIM:618108 |
| Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Malabsorption, Arthri... |
OMIM:300310 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
| Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... |
OMIM:112700 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
| Ménétrier Disease |
|
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... |
ORPHA:2494 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
| Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Clinodactyly of the 2nd toe, Type A2 brachydactyly, Diabetes... |
OMIM:211369 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... |
OMIM:606835 |
| Cleidorhizomelic Syndrome |
|
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... |
ORPHA:1453 |
| Gombo Syndrome |
|
Radial deviation of finger, Abnormal heart morphology, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... |
ORPHA:183675 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... |
OMIM:605258 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... |
OMIM:613502 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
| Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
| Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... |
OMIM:615897 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Decreased circulating IgG le... |
OMIM:608809 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
| Long-Thumb Brachydactyly Syndrome |
|
Long thumb, Brachydactyly, Short finger |
OMIM:112430 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... |
OMIM:607004 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... |
OMIM:601495 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Villous atrophy, Recurrent proto... |
OMIM:209920 |
| Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... |
OMIM:112800 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Abnormality of the metacarpal bones, Type A brachydactyly |
ORPHA:1078 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... |
OMIM:619079 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly |
OMIM:176305 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... |
OMIM:611702 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function... |
ORPHA:572 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... |
OMIM:614372 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
| Thiemann Disease, Familial Form |
|
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly |
ORPHA:3314 |
| Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Sepsis, Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Eczema, Tubuloint... |
ORPHA:37042 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
| Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
| Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... |
OMIM:613953 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Decreased circulati... |
OMIM:606843 |
| Brachydactyly, Combined B And E Types |
|
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... |
OMIM:112440 |
| Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... |
OMIM:618435 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... |
ORPHA:52056 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
| Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
| Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... |
OMIM:240500 |
| Ficolin 3 Deficiency |
|
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... |
OMIM:613860 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Recurrent respiratory infection... |
ORPHA:2575 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger |
ORPHA:1471 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... |
OMIM:610140 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... |
ORPHA:3237 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... |
OMIM:193670 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... |
ORPHA:319552 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... |
OMIM:608184 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
| Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... |
ORPHA:331206 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
| Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... |
ORPHA:391646 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... |
ORPHA:1937 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decrea... |
OMIM:619381 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
| Thymic Aplasia |
|
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... |
ORPHA:83471 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Cap Polyposis |
|
Colorectal polyposis, Constipation, Atrophic gastritis, Diarrhea, Hematochezia |
ORPHA:160148 |
| Selective Igm Deficiency |
|
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Neutropen... |
ORPHA:331235 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... |
OMIM:308230 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... |
ORPHA:911 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... |
OMIM:113450 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Brachydactyly, Metaphyseal sclerosi... |
OMIM:609052 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
| Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... |
OMIM:613496 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Caspase 8 Deficiency |
|
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... |
OMIM:607271 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Mesomelia, Brachydactyly, Abnormal shoulder morphology |
ORPHA:1277 |
| Hypochondroplasia |
|
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... |
OMIM:146000 |
| Omenn Syndrome |
|
Recurrent bacterial infections, Hypoproteinemia, B lymphocytopenia, Erythroderma, Pneumonia, Recu... |
OMIM:603554 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th fin... |
OMIM:604381 |
| Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly, Radioulnar synostosis |
ORPHA:9 |
| Immunodeficiency 33 |
|
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... |
OMIM:300636 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
| Anauxetic Dysplasia 1 |
|
Small epiphyses, Short finger, Rhizomelia, Delayed ossification of carpal bones, Short toe, Flare... |
OMIM:607095 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... |
OMIM:185700 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, Severe varicella zoster infection, Hepatosplenomegaly, Recurrent respiratory infections, ... |
OMIM:606367 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Leukopenia, Myositis, Xerostomia, Arthriti... |
ORPHA:809 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... |
OMIM:243700 |
| Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Brachydactyly |
OMIM:615995 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Atrophic gastritis, ... |
ORPHA:227990 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... |
OMIM:112910 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Recurrent opportunistic infec... |
ORPHA:277 |
| Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly |
OMIM:112410 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... |
OMIM:307200 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Macrocytic anemia, Keratoconjunctivitis sicca, Tubulointerstitial ... |
ORPHA:227982 |
| Immune Deficiency Disease |
|
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... |
OMIM:242850 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio... |
OMIM:147060 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... |
OMIM:616005 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pgm3-Cdg |
|
Lactose intolerance, Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antib... |
ORPHA:443811 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Triphalangeal thumb, Increased mean corpuscular vol... |
OMIM:612561 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
| Syndromic Diarrhea |
|
Thrombocytosis, Bloody diarrhea, Increased mean platelet volume, Villous atrophy, Hypoplasia of t... |
ORPHA:84064 |
| Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... |
OMIM:608957 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Pseudopseudohypoparathyroidism |
|
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Obes... |
ORPHA:79445 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
| Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly |
OMIM:614257 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormal cardiac septum morphology, ... |
ORPHA:2370 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Small for gestational age, Brachydactyly, Delayed ossification of carpal b... |
OMIM:618392 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
| Craniosynostosis 3 |
|
Hallux valgus, Brachydactyly, Single transverse palmar crease |
OMIM:615314 |
| Cooks Syndrome |
|
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Mele... |
ORPHA:73263 |
| Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... |
OMIM:102700 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... |
OMIM:300291 |
| Metaphyseal Acroscyphodysplasia |
|
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... |
ORPHA:1240 |
| Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... |
ORPHA:1927 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Acute lymphobl... |
ORPHA:486 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Brachydactyly, Abnormal mitral valve morphology |
ORPHA:1919 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:1795 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Heart-Hand Syndrome Type 3 |
|
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe |
ORPHA:1342 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Atrial septal defect, Type E brachydactyly |
OMIM:113301 |
| 20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly |
ORPHA:444051 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent opportunistic infections, L... |
ORPHA:35078 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infection... |
OMIM:614493 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
| Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
| Weyers Acrofacial Dysostosis |
|
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Dysphagia, Infectious encephalitis, Abnormal gastric mucosa morpholog... |
ORPHA:779 |
| Achondroplasia |
|
Genu varum, Bowing of the legs, Rhizomelia, Flared metaphysis, Limited elbow extension, Trident h... |
OMIM:100800 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Short Stature-Obesity Syndrome |
|
Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Micromelia, Brachydactyly |
OMIM:269870 |
| Hypochondroplasia |
|
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... |
ORPHA:429 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Impaire... |
OMIM:613179 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Small for gestational age, Talipes equinovarus, Failure to thrive... |
OMIM:612626 |
| Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Psoriasiform dermatitis, Decreased circulating IgA level, Recurrent viral upper... |
OMIM:615577 |
| Immunodeficiency 23 |
|
Eczema, High palate, Eosinophilia, Neutropenia, Allergic rhinitis, Bronchiectasis, Severe varicel... |
OMIM:615816 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Brachydactyly |
ORPHA:168796 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... |
ORPHA:93387 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... |
ORPHA:2760 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Obesity, Finger syndactyly, Genu valgum, Brachy... |
ORPHA:65759 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle... |
ORPHA:2928 |
| Isolated Brachycephaly |
|
Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Summitt Syndrome |
|
Finger syndactyly, Genu valgum, Camptodactyly of finger, Short palm, Obesity, Clinodactyly of the... |
ORPHA:3210 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short... |
OMIM:609616 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Hyperglycemia, Truncal obesity, Syndactyly, Postaxial foot po... |
OMIM:615986 |
| Bardet-Biedl Syndrome 4 |
|
Obesity, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... |
OMIM:113000 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Triphalangeal thumb, Brachydactyly |
OMIM:124480 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Membranoproliferative glomerulonephritis |
OMIM:613779 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Thrombocytopenia, Clinodactyly, Brachydactyly |
OMIM:618048 |
| Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... |
ORPHA:166011 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Recurrent staphylococcal infections, Recu... |
OMIM:607676 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Sillence Syndrome |
|
Broad metatarsal, Metatarsus adductus, Short middle phalanx of finger, Large tarsal bones, Chess-... |
ORPHA:3168 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Broad hallux, Broad thumb, Clinodactyly, Brachydactyly |
OMIM:301026 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Camptobrachydactyly |
|
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1319 |
| Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Recurrent bronchopulmonary infections, Megaloblastic anemia, Gastritis, Recurrent pneumonia, Exoc... |
OMIM:219721 |
| Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... |
OMIM:250215 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... |
OMIM:233710 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand polydactyly, Bra... |
ORPHA:1278 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Short 5th metacarpal, Short digit, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:228190 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... |
OMIM:156530 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... |
OMIM:601560 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... |
OMIM:300244 |
| Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short 1st metacarp... |
OMIM:251450 |
| Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Sinusitis, Abnormality of the small intestine, Neutropeni... |
ORPHA:51636 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... |
ORPHA:1406 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... |
ORPHA:969 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... |
ORPHA:93307 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomeg... |
OMIM:233690 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Cutaneous... |
OMIM:601005 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Hepatosplenomegaly, Short long bone, Brachydactyly |
ORPHA:221054 |
| Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... |
ORPHA:474 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Talipes equinovarus,... |
OMIM:211920 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased circulating antibody level, Decreased circulating total IgM, Diarrhea, B lymphocytopeni... |
ORPHA:221139 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Clinodactyly, Brachydactyly, Tapered finger |
OMIM:617061 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Glucose intolerance, Impaired glucose tolerance, Genu va... |
OMIM:615630 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Abnormal femoral head morphology, Abnormality of the wrist, Protrusio ace... |
ORPHA:2619 |
| Muenke Syndrome |
|
Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, ... |
OMIM:602849 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed epiphyseal ossif... |
ORPHA:166016 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... |
OMIM:106990 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metatarsal, Cubitus valgus, Enlarged interphalangeal joints, Short metacarpa... |
OMIM:151200 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... |
OMIM:177170 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Otitis media, Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Tapered finger, Short finger, Failure to thrive, Short toe, Brachydactyly |
OMIM:610680 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Failure to thrive, Endocardial fibroelas... |
OMIM:212140 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Postaxial polydactyly, Failure to thrive, Radial deviation of finger, Brachydacty... |
OMIM:277170 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Single transverse palmar crease, Eosinophilia, Noncompac... |
OMIM:616651 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Finger syndactyly, Bilateral single transverse palmar creases, Hand po... |
ORPHA:2377 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... |
ORPHA:169090 |
| Immunodeficiency 58 |
|
Eczema, Chronic otitis media, Decreased circulating antibody level, Recurrent respiratory infecti... |
OMIM:618131 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Bilateral single transverse palmar creases, Short foot, Obesity, Clinodactyly of the ... |
ORPHA:444002 |
| Shwachman-Diamond Syndrome |
|
Sinusitis, Sepsis, Eczema, Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopeni... |
ORPHA:811 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Type II diabetes mellitus, Brachydactyly |
ORPHA:1436 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... |
OMIM:610017 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... |
ORPHA:2831 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Hemolytic anemia, Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, In... |
OMIM:600903 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Tibial deviation... |
ORPHA:363417 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhizomelia, P... |
ORPHA:3098 |
| Postinfectious Vasculitis |
|
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... |
ORPHA:48435 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubitus valgus, Co... |
OMIM:617396 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly |
OMIM:614684 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... |
OMIM:200700 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large int... |
OMIM:301000 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Arachnodactyly, Short thumb, Syndactyly, Decreased body weight, Cl... |
OMIM:600325 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Short foot, Short metacarpal, Short toe, Brachydactyly |
OMIM:614078 |
| Leri Pleonosteosis |
|
Abnormality of epiphysis morphology, Cubitus valgus, Abnormality of the metaphysis, Abnormality o... |
ORPHA:2900 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Short finger, Short proximal phalanx of finger, Short metacarpal, Short toe, Brachydactyly |
OMIM:191482 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Ulnar deviation of finger, Atrial septal defect, Short toe, Brachydactyly, Radiou... |
ORPHA:921 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Abnormality of finger, Abnormality of the wrist, Abnormal thumb morphology... |
ORPHA:2511 |
| Ethylene Glycol Poisoning |
|
Gastritis, Vomiting, Nausea |
ORPHA:31826 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... |
OMIM:239850 |
| Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Chronic oral candidiasis, Recurrent otitis media, Re... |
OMIM:608233 |
| Vici Syndrome |
|
Recurrent bacterial infections, Cleft palate, Recurrent fungal infections, Decreased circulating ... |
OMIM:242840 |
| Roifman Syndrome |
|
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Broad femoral head, Noncompaction... |
ORPHA:353298 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... |
ORPHA:93314 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Ulnar deviation of finger, Synostosis of carpal bones, Genu valg... |
ORPHA:2496 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short distal phalanx of toe, Short 1st metacarpal, Short distal pha... |
OMIM:601957 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Osteomyelitis, Periodontitis, Recurrent staphylococ... |
OMIM:116920 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad palm, Metaphyseal cupping, Metaphyseal dysplasia, Genu varum, Metaphyseal widening, Metaphy... |
OMIM:250420 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Small hand, Proximal placement of thumb, Short foot, Limited elbow m... |
OMIM:300590 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Tapered finger, Weight loss, Diabetes mellitus, Brachydactyly |
ORPHA:317 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Massively thickened long bone cortices, Micromelia, Brachydactyly |
OMIM:122900 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Anemia, Thrombocytopenia |
ORPHA:858 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Brachydactyly, Type E1 |
|
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Type E brachydactyly |
OMIM:113300 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminenc... |
OMIM:142900 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Dislocated radial head,... |
ORPHA:401935 |
| Hand-Foot-Genital Syndrome |
|
Delayed tarsal ossification, Short 2nd toe, Proximal placement of thumb, Short 5th finger, Pseudo... |
OMIM:140000 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Failure to thrive, Right ventricular hypert... |
OMIM:614261 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Short metatarsal, Avascu... |
OMIM:190351 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, R... |
OMIM:612840 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the elbow, Truncal obesity, Short toe, Brachydactyly |
ORPHA:633 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... |
OMIM:615994 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Vacuolated lymphocytes, Metaphyseal irregularity, Cardiomegaly, ... |
OMIM:269920 |
| Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Pseudo... |
OMIM:201000 |
| Poland Syndrome |
|
Dextrocardia, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly, Unilateral brach... |
OMIM:173800 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Lower limb undergrowth, Brachydactyly, Bowing of the legs |
OMIM:612847 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short thumb, Broad hallux, Brachydactyly |
OMIM:165800 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Short toe, Obesity, Hyperinsulinemia, Brachydactyly |
ORPHA:3085 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Odontochondrodysplasia 1 |
|
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... |
OMIM:184260 |
| Coffin-Siris Syndrome 7 |
|
Abnormal heart morphology, Clinodactyly, Abnormal cardiac septum morphology, Brachydactyly |
OMIM:618027 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Short foot, Camp... |
ORPHA:3409 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly, Short metac... |
OMIM:605282 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Short metatarsal, Short metacarpal, Diabetes mellitus, Obesity, Short phal... |
OMIM:614613 |
| Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Chronic diarrhea, Achalasia, Recurren... |
OMIM:617053 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Radial deviation of finger, Tetralogy of Fallot, Pectoral muscle h... |
OMIM:136760 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... |
OMIM:617241 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal dappling, Metaphyseal irregularity, Genu valgum, Coxa vara, Brachydactyly, Hypoplasti... |
OMIM:184250 |
| Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Recurrent infections, Anemia, Gastric var... |
ORPHA:64743 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... |
OMIM:601859 |
| Immunodeficiency 27B |
|
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis |
OMIM:615978 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short metacarpal, Mesomelia, ... |
OMIM:617604 |
| Immunodeficiency 10 |
|
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia |
OMIM:612783 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Talipes equinovarus, Small for gestational age, Anemia, Proximal placement o... |
OMIM:615789 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Hammertoe, Short foot, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:275900 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Sepsis, Recurrent staphylococcal infections, Impaired platelet aggregation, Conjunctiv... |
ORPHA:2968 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Short long bone, Brachydactyly, Postaxial polydactyly |
OMIM:615633 |
| Greenberg Dysplasia |
|
Rhizomelia, Brachydactyly, Abnormal pelvis bone ossification, Micromelia, Abnormal leukocyte morp... |
ORPHA:1426 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, High palate, Cleft palate, Neutropenia, Leukopenia, Monoc... |
OMIM:612541 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Bloody diarrhea, Thrombocytosis, Defective T cell proliferation, Severe varicella z... |
OMIM:618213 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Triphalangeal thumb, Neutropenia, Increased mean co... |
OMIM:612562 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormality of the metaphysis, Finger syndactyly, Short distal phalanx of finger, Abn... |
ORPHA:1515 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Typ... |
OMIM:210720 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Abnormal lymphocyte proliferation, Cleft palate, Elevated... |
OMIM:619573 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Brachydactyly |
OMIM:617763 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Short thumb, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Narrow palm, Tapered finger, Rocker bottom foot, Small hand, Short ... |
OMIM:615547 |
| Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Periodontitis, Incre... |
ORPHA:167 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Type II diabetes mellitus, Splenomegaly, Type I diabetes mellitus, Abnorm... |
ORPHA:1133 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Small for ... |
ORPHA:860 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly |
OMIM:618381 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... |
OMIM:242700 |
| Immunodeficiency 47 |
|
Recurrent bacterial infections, Decreased circulating total IgA, Normocytic anemia, Decreased cir... |
OMIM:300972 |
| Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Reticulocytopenia, V... |
ORPHA:124 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Brachydactyly |
OMIM:610498 |
| Complement Factor I Deficiency |
|
Sinusitis, Glomerulonephritis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urina... |
OMIM:610984 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Moebius Syndrome |
|
Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia involving the met... |
OMIM:157900 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Impaired T cell function, Elevated circula... |
OMIM:614576 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly |
OMIM:600649 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Metaphyseal irregularity, Flared m... |
OMIM:187601 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Limb undergrowth, Clubbing, Genu valgum, Postaxial foot polydactyl... |
OMIM:619143 |
| Opsismodysplasia |
|
Hepatomegaly, Tapered finger, Abnormality of epiphysis morphology, Abnormality of the metaphysis,... |
ORPHA:2746 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Cubitus valgus, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Short fourth meta... |
ORPHA:457395 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Mitral valve prolapse, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Metaphyseal widening, Limb undergrowth, Coarse metaphyseal trabecularization, Short long bone, Br... |
OMIM:618961 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Hypersplenism, Syndactyly, Right ... |
OMIM:616028 |
| Temtamy Syndrome |
|
Clinodactyly of the 5th finger, Genu varum, Brachydactyly, Short toe |
ORPHA:1777 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Rhizomelic arm shortening... |
OMIM:223800 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Short distal phalanx of finger |
ORPHA:1547 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, 2-3 toe syndactyly, Tapered finger, Failure to thrive, Abnormal heart morphology, ... |
ORPHA:485405 |
| Craniofrontonasal Dysplasia |
|
Broad hallux phalanx, Congenital pseudoarthrosis of the clavicle, Finger syndactyly, Sandal gap, ... |
ORPHA:1520 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Syndactyly,... |
ORPHA:2169 |
| Lowry-Wood Syndrome |
|
Irregular epiphyses, Small epiphyses, Small for gestational age, Hip dislocation, Shallow acetabu... |
OMIM:226960 |
| Achondroplasia |
|
Short middle phalanx of finger, Bowing of the legs, Limb undergrowth, Rhizomelia, Abnormal iliac ... |
ORPHA:15 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormality of epiphysis morphology, Neutropenia, Brachydactyly |
ORPHA:2643 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity, Short metacarpal, Brachydactyly |
OMIM:603233 |
