| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation |
OMIM:615674 |
| Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... |
ORPHA:319487 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly, Microphthalmia |
OMIM:233270 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... |
ORPHA:97290 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... |
OMIM:112500 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
| Familial Digital Arthropathy-Brachydactyly |
|
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... |
ORPHA:85169 |
| Sugarman Brachydactyly |
|
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... |
OMIM:272150 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... |
OMIM:606835 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... |
OMIM:112700 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ... |
OMIM:211369 |
| Thiemann Disease, Familial Form |
|
Abnormal epiphysis morphology, Limitation of joint mobility, Brachydactyly, Abnormal metaphysis m... |
ORPHA:3314 |
| Cleidorhizomelic Syndrome |
|
Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation... |
ORPHA:1453 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter |
ORPHA:2091 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Clinodactyly of the 5th toe, Lymphadenopathy, Esophag... |
ORPHA:99976 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Joint stiffness, Overlappi... |
OMIM:618167 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Goiter, Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular ... |
ORPHA:142 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... |
OMIM:607004 |
| Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle... |
OMIM:112800 |
| Arthrogryposis, Distal, Type 2B2 |
|
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ... |
OMIM:618435 |
| Multiple Synostoses Syndrome |
|
Broad thumb, Cone-shaped epiphysis, Joint stiffness, Bilateral single transverse palmar creases, ... |
ORPHA:3237 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Cryptorchidism, Anophthalmia, Microphthalmia, Cleft palate |
OMIM:615524 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly |
ORPHA:1078 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Epiphyseal stippling, Typ... |
OMIM:274300 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... |
OMIM:206920 |
| Thyroid Lymphoma |
|
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism, Dysphagia |
ORPHA:97285 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger |
ORPHA:1471 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenit... |
ORPHA:64744 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... |
ORPHA:93396 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Jejunal atresia, Brachydactyly, Short middle phalanx of finger |
ORPHA:391646 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Abnormality of the spleen, Esophagitis, Anophthalmia, Perineal fistula, Abnorm... |
ORPHA:2538 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Camptodactyly of finger, Carpal sy... |
OMIM:186300 |
| Progressive Osseous Heteroplasia |
|
Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl... |
ORPHA:2762 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... |
ORPHA:750 |
| Brachydactyly Type C |
|
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... |
ORPHA:93384 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... |
ORPHA:139507 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Tetrasomy X |
|
Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th... |
ORPHA:9 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Ascher Syndrome |
|
High palate, Hypothyroidism, Deviation of finger, Goiter |
ORPHA:1253 |
| Bangstad Syndrome |
|
Abnormally large globe, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Primary gonada... |
OMIM:210740 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated... |
ORPHA:95716 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot |
OMIM:190680 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic humeral metaphysis,... |
OMIM:609052 |
| Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid ad... |
ORPHA:163634 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Mi... |
ORPHA:2470 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Cryptorchidism, Anophthalmia, Microphthalmia, Cleft palate |
OMIM:164180 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... |
OMIM:185700 |
| Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Tracheal stenosis, Thyroid carcinoma, Hypothyroidism |
ORPHA:705 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Hip osteoarthritis, Osteoarthritis of the elbow, Limitation of joint mobility, Short ... |
ORPHA:2619 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... |
OMIM:611263 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility |
ORPHA:2787 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... |
OMIM:618955 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix |
ORPHA:75234 |
| Tarsal-Carpal Coalition Syndrome |
|
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Carpal synostosi... |
OMIM:186570 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Microphth... |
OMIM:146510 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter |
OMIM:180295 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Genu valg... |
ORPHA:65759 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Hydrolethalus |
|
Bifid uvula, Micromelia, Cryptorchidism, Anophthalmia, Submucous cleft hard palate, Tracheal atre... |
ORPHA:2189 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,... |
ORPHA:1275 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly |
OMIM:614257 |
| 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 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, High... |
ORPHA:139471 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... |
ORPHA:226313 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph... |
ORPHA:2370 |
| Feingold Syndrome |
|
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Hallux ... |
ORPHA:1305 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism |
ORPHA:3303 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul... |
OMIM:300244 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... |
ORPHA:370010 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Brachydactyly, Esophageal... |
OMIM:616589 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
| Greenberg Dysplasia |
|
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Decreased skull ossification, Anterior... |
ORPHA:1426 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... |
ORPHA:1927 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Pseudopseudohypoparathyroidism |
|
Short 5th finger, Ectopic ossification, Short distal phalanx of the thumb, Short 5th metacarpal, ... |
ORPHA:79445 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Finger... |
ORPHA:3250 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Wolman Disease |
|
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foa... |
ORPHA:75233 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Eng-Strom Syndrome |
|
Brachydactyly, Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel... |
ORPHA:2639 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... |
OMIM:112910 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Microphthalmia |
ORPHA:77298 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... |
OMIM:275000 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h... |
ORPHA:429 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Cleft palate |
OMIM:613885 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| 20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
| Craniosynostosis 3 |
|
Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagittal craniosynostosis, ... |
OMIM:615314 |
| Campomelia, Cumming Type |
|
Clubbing of toes, Micromelia, Abnormally ossified vertebrae, Abnormality of the pancreas, Bowing ... |
ORPHA:1318 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... |
OMIM:225250 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Cryptorchidism, Polydactyly, Brachydactyly, Syndactyly |
OMIM:615982 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari... |
OMIM:617341 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Reduced bone mineral density, Brachydactyly, Delayed ossification of carpal b... |
OMIM:618392 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... |
OMIM:175700 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Limitation of joint mobility, Radial bowing, Premature osteoarthritis, Abnormal hand morphology, ... |
ORPHA:93307 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Clinodactyly, Radial deviati... |
OMIM:157900 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Brachydactyly, Short thumb, Osteoarthritis |
ORPHA:435804 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... |
OMIM:219080 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, Hypothyroidism, Palm... |
OMIM:615108 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Type II diabetes mellitus, Brachydactyly, Anal atresia, Short middle phalanx of finger, Fused cer... |
ORPHA:1436 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... |
OMIM:615830 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Joint hypermobility, Microphthalmia, C... |
OMIM:610125 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... |
OMIM:156530 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Pseudopseudohypoparathyroidism |
|
Pseudohypoparathyroidism, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal |
OMIM:612463 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormality of tibial epiphyses, Limitation of joint mobility, Arthralgia of the hip, Abnormal ha... |
ORPHA:166011 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elb... |
ORPHA:1106 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... |
OMIM:609441 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi... |
ORPHA:93941 |
| Trisomy 13 |
|
High, narrow palate, Abnormal pelvic girdle bone morphology, Ectrodactyly, Aplasia/Hypoplasia of ... |
ORPHA:3378 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... |
ORPHA:1228 |
| Atelosteogenesis Type I |
|
Laryngotracheal stenosis, Rhizomelia, Absent or minimally ossified vertebral bodies, Talipes equi... |
ORPHA:1190 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Elbow dislocation, Short thumb, Joint st... |
ORPHA:968 |
| Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Bilateral single transverse palmar creases, ... |
ORPHA:353298 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Joint hypermobility, Bra... |
OMIM:301026 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Ovarian cyst, Hypothyroidism, Palm... |
OMIM:615109 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia |
OMIM:610023 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Short toe, Genu valgum, Limited elbow extension, Irregular epiphyses of... |
OMIM:614078 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl... |
OMIM:177170 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft palate, Anophthalmia, Microphthalmia |
OMIM:600776 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... |
ORPHA:1856 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Cryptorchidism, Arachnodactyly, Brachyd... |
OMIM:600325 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal hand morphology, Osteolysis inv... |
ORPHA:371428 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of joint mobilit... |
ORPHA:95699 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia |
OMIM:608971 |
| Brachydactyly Type E |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br... |
ORPHA:93387 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Aganglionic megacolon, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... |
OMIM:251450 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of finger, Short thu... |
OMIM:151200 |
| Acromicric Dysplasia |
|
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Joint stiffness, Ab... |
ORPHA:969 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Single transverse palmar c... |
OMIM:616651 |
| Trisomy 1Q |
|
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidism, Anophthalmia,... |
ORPHA:261344 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger |
OMIM:604381 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Small hand, Clinodactyly, Cryptorchidism, Perianal abscess, Brachydactyly, Short phalanx of finge... |
OMIM:614684 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Complete duplication of proximal pha... |
ORPHA:363417 |
| Cooks Syndrome |
|
Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Clinodactyly of the 5th finger, Short 4t... |
ORPHA:3210 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Aplasia/Hypoplasia of the thymus, Micromelia, Osteomalacia, Camptodactyly of finger, ... |
ORPHA:2176 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... |
OMIM:271700 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Decreased skull ossification, Brac... |
OMIM:602361 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio... |
OMIM:602849 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Osteoporosis, Osteolysis |
ORPHA:100024 |
| Acrocephalopolydactyly |
|
Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Short long bone |
ORPHA:221054 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Pseudohypo... |
OMIM:103580 |
| Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Bilateral single transverse ... |
ORPHA:2849 |
| Anencephaly 2 |
|
Median cleft palate, Anophthalmia |
OMIM:619452 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Weyers Acrofacial Dysostosis |
|
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi... |
OMIM:193530 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Limitation of joint mobility, Micromelia, Smooth tongue, Camptodactyly of finger, Elb... |
ORPHA:3206 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Cryptorchidism, Ano... |
ORPHA:264200 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Colonic diverticula, Goiter, Lymphopenia, Furrowed tongue, Ovarian cyst, Ovarian... |
OMIM:158350 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon, Short thumb, Type D brachydactyly |
OMIM:306980 |
| Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Short toe, Cryptorchidism, Radioulnar synostosis, Brac... |
ORPHA:921 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Elevated circulating parathyroid hormone level, Brachydactyly, Pseudohypoparath... |
OMIM:603233 |
| Temtamy Syndrome |
|
Short toe, Joint hypermobility, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Ge... |
ORPHA:1777 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangea... |
OMIM:124480 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De... |
ORPHA:90673 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... |
ORPHA:525731 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Brachydactyly, High palate, Anal atresia, Anterior hypop... |
ORPHA:2863 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp... |
ORPHA:3098 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... |
ORPHA:733 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Cleft palate, Bilateral cleft palate |
ORPHA:1104 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Leukopenia, Absen... |
ORPHA:974 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, High, narrow palate, Ulnar deviation of finger, Synostosis of carpal bones,... |
ORPHA:2496 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
| Anauxetic Dysplasia 2 |
|
Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Brachydactyly, Metaphysea... |
OMIM:617396 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Premature osteoarthrit... |
ORPHA:93314 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Brachydactyly |
OMIM:165800 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:99819 |
| Hypochondroplasia |
|
Flared metaphysis, Limited elbow extension, Trident hand, Brachydactyly, Short long bone, Cranios... |
OMIM:146000 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Cli... |
ORPHA:1515 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Type II diabetes mellitus, Bilateral single transverse palmar creases, Cryptor... |
ORPHA:2377 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Portal hypertension, Splenomegaly, Thrombocytopenia, H... |
OMIM:619463 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Intestinal malrotation, Limited elbow extension and supination, Cryptorchidism, Join... |
ORPHA:401935 |
| Vacterl With Hydrocephalus |
|
Cryptorchidism, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of the ra... |
ORPHA:3412 |
| Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... |
ORPHA:93352 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Broad thumb, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Short metatarsal, Short ... |
ORPHA:1278 |
| Nicolaides-Baraitser Syndrome |
|
High, narrow palate, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphol... |
ORPHA:3051 |
| Bent Bone Dysplasia Syndrome 1 |
|
Coronal craniosynostosis, Abnormally large globe, Hepatosplenomegaly, Decreased calvarial ossific... |
OMIM:614592 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... |
ORPHA:411696 |
| Meckel Syndrome |
|
Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol... |
ORPHA:564 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... |
OMIM:610017 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Incr... |
ORPHA:90674 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Congenital hypothyroidism, Cryptorchidism, Brachydactyly, Short metatarsal... |
OMIM:614613 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... |
ORPHA:424 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly, Cryptorchidism |
OMIM:612626 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, De... |
OMIM:618162 |
| Odontochondrodysplasia 1 |
|
Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epiphyses of the pha... |
OMIM:184260 |
| Schaaf-Yang Syndrome |
|
Small hand, Rocker bottom foot, Gastroesophageal reflux, Clinodactyly, Hypogonadism, Cryptorchidi... |
OMIM:615547 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ... |
OMIM:602152 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade... |
ORPHA:97289 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia, Puberty and gonadal disorders, Abnormality of the liver... |
ORPHA:79320 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Tracheal stenos... |
OMIM:601427 |
| Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
| Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... |
ORPHA:403 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Foot joint contracture, Abnormal hallu... |
ORPHA:456312 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Portal hypertension, Talipes equinovarus, Cirrhosis, Flexion contracture, Art... |
OMIM:232500 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Clinodactyly, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling, Narrow greater ... |
OMIM:184250 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
| Leri Pleonosteosis |
|
Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Joint sti... |
ORPHA:2900 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Coombs-posi... |
OMIM:619375 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
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High, narrow palate, Small hand, Bilateral single transverse palmar creases, Brachydactyly, Clino... |
ORPHA:444002 |
| Acrocapitofemoral Dysplasia |
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Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Brachydactyly, Type B1 |
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Joint contracture of the hand, Broad thumb, Aplasia/Hypoplasia of the distal phalanges of the han... |
OMIM:113000 |
| Kerion Celsi |
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Lymphadenopathy |
ORPHA:499 |
| Microphthalmia, Isolated 8 |
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True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Opsismodysplasia |
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Broad thumb, Abnormal epiphysis morphology, Joint stiffness, Splenomegaly, Brachydactyly, Hypopla... |
ORPHA:2746 |
| Acrodysostosis |
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Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of ... |
ORPHA:950 |
| Mirage Syndrome |
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Gastroesophageal reflux, Radial club hand, Decreased testicular size, Adrenal insufficiency, Lymp... |
OMIM:617053 |
| Cornelia De Lange Syndrome 2 |
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Small hand, Gastroesophageal reflux, Clinodactyly, Limited elbow movement, Brachydactyly, High pa... |
OMIM:300590 |
| Cowden Syndrome 7 |
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Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid ... |
OMIM:616858 |
| Budd-Chiari Syndrome |
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Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Splenomegaly, Cho... |
ORPHA:131 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
| Sillence Syndrome |
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Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ... |
ORPHA:3168 |
| Frontonasal Dysplasia 1 |
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Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas... |
OMIM:136760 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Bowing of the legs, Brachydactyly, Premature pubarche, Lower limb undergrowth |
OMIM:612847 |
| Multiple Synostoses Syndrome 1 |
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Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Trichothiodystrophy 9, Nonphotosensitive |
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High, narrow palate, Brachydactyly, Joint hypermobility |
OMIM:619692 |
| Adams-Oliver Syndrome 5 |
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Hypersplenism, Splenomegaly, Portal vein thrombosis, Brachydactyly, Esophageal varix, Syndactyly |
OMIM:616028 |
| Solitary Median Maxillary Central Incisor |
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Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... |
OMIM:147250 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Bifid uvula, Camptodactyly of finger, Cryptorchidism, Bilateral single transverse palmar creases,... |
ORPHA:3047 |
| Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Bifid uvula, Limitation of joint mobility, Dumbbell-shaped femur, Sandal ga... |
ORPHA:1427 |
| Craniofrontonasal Dysplasia |
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Finger syndactyly, Sandal gap, Camptodactyly of finger, Clinodactyly of the 5th finger, Joint hyp... |
ORPHA:1520 |
| Charlie M Syndrome |
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Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Mitten deformity, Abnormal esophagus morphology, Spontaneous esophageal perforation, Anemia, Flex... |
OMIM:226600 |
| Duodenal Atresia |
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Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
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Clinodactyly of the 5th finger, Joint hypermobility, Deep palmar crease, Brachydactyly, Genu varu... |
OMIM:619451 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Small hand, Elevated circulating parathyroid hormone level, Brac... |
OMIM:618618 |
| Alpha-Heavy Chain Disease |
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Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
| Cerebrooculonasal Syndrome |
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High palate, Anophthalmia, Postaxial hand polydactyly |
ORPHA:66625 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... |
OMIM:617405 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Short toe, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism... |
ORPHA:3085 |
| Chromosome 17Q12 Duplication Syndrome |
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Broad thumb, Cleft soft palate, Esophageal atresia, Brachydactyly, Microphthalmia |
OMIM:614526 |
| Cockayne Syndrome Type 2 |
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Male hypogonadism, Cryptorchidism, Anophthalmia, Hepatomegaly, Flexion contracture |
ORPHA:90322 |
| Pseudohypoparathyroidism, Type Ic |
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Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Benign Schwannoma |
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Abnormality of the liver, Intestinal polyposis, Abnormality of the adrenal glands, Abnormal esoph... |
ORPHA:252164 |
| Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th finger, Cleft pala... |
OMIM:244600 |
| Acromesomelic Dysplasia 2A |
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Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Clinodactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Camptodactyly, Flexio... |
ORPHA:88630 |
| Walker-Warburg Syndrome |
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Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Cryptorchidism, Anophthalmia, Microp... |
ORPHA:899 |
| Multiple Endocrine Neoplasia, Type Iib |
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High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Proximal... |
OMIM:162300 |
| Immunodeficiency 76 |
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Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia |
OMIM:619164 |
| Trichorhinophalangeal Syndrome, Type Iii |
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Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular ne... |
OMIM:190351 |
| 15Q24 Microdeletion Syndrome |
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Small hand, Clinodactyly, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
ORPHA:94065 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transverse palmar creases, Abno... |
ORPHA:2511 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
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Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Cryptorchidism, Joint hypermobility... |
OMIM:618659 |
| Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Hypogonadism, Cryptorchidism, Joint hypermobility, 2-3 toe syndactyly, Talipe... |
ORPHA:3306 |
| Greenberg Dysplasia |
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Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... |
OMIM:215140 |
| Microphthalmia, Syndromic 6 |
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Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Thumb contracture, Cryptorchidism... |
OMIM:607932 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Postaxial polydactyly, Brachydactyly, Cryptorchidism, Short long bone |
OMIM:615633 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga |
OMIM:132450 |
| Ruvalcaba Syndrome |
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