| 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 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
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 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| 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 |
| Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Microphthalmia, Brachydactyly |
OMIM:233270 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Recurrent fractures, Nodular goiter, Colon cancer, Follicular thy... |
ORPHA:319487 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Recurrent fractures, Nodular goiter, Colon cancer, Chronic noninf... |
ORPHA:97290 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Clinodactyly of the 5th toe, Esophageal carcinoma |
ORPHA:99977 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
| Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Diabetes mellitus, Absent middle pha... |
OMIM:211369 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Brac... |
ORPHA:3314 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter |
ORPHA:2091 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Multinodular goiter, Bilateral triphalange... |
OMIM:138790 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... |
OMIM:145250 |
| Cleidorhizomelic Syndrome |
|
Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral single transver... |
ORPHA:1453 |
| Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Clinodactyly of the 5th toe, Lymphadenopathy, Esophageal carcinoma, Barr... |
ORPHA:99976 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
| Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Goiter, Inc... |
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 2nd finger, Aplasia of the middle phalanges of the toes, Short middle... |
OMIM:112800 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Laryngotracheal stenosis, Anaplastic thyroid carcinoma, Tracheoesophageal fistula... |
ORPHA:142 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
| Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology |
ORPHA:1078 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Joint s... |
OMIM:618167 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
| Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine morphology, Dys... |
ORPHA:70482 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Hashimoto thyroiditis, Dysphagia, Goiter |
ORPHA:97285 |
| Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
| Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Progressive Osseous Heteroplasia |
|
Limitation of joint mobility, Brachydactyly, Abnormality of the parathyroid gland, Ectopic ossifi... |
ORPHA:2762 |
| Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
| African Iron Overload |
|
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... |
ORPHA:139507 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Igg4-Related Thyroid Disease |
|
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Thyroiditis, Th... |
ORPHA:64744 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
| Tetrasomy X |
|
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Joint hyperflexibility, Bra... |
ORPHA:9 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Increased radioactive iodine uptake, El... |
ORPHA:95716 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Maffucci Syndrome |
|
Parathyroid adenoma, Neoplasm of the parathyroid gland, Recurrent fractures, Neoplasm of the adre... |
ORPHA:163634 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Anophthalmia, Esophageal ... |
ORPHA:2538 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
| Ascher Syndrome |
|
Deviation of finger, Hypothyroidism, High palate, Goiter |
ORPHA:1253 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of finger |
ORPHA:391646 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Abnormally large globe, Pancytopenia, Insulin-resistant diabetes m... |
OMIM:210740 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Hypogonadism, Brachydactyly |
OMIM:615983 |
| Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Jaundice, Macroglossia, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
| Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal spleen morphology, Duodenal stenosis, ... |
ORPHA:2470 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Microphthalmia, Cryptorchidism, Cleft palate |
OMIM:164180 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... |
OMIM:185700 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Hip dysplasia, Flat capital femoral epiphysis, Brachydactyly, Epiphyseal dyspla... |
OMIM:226900 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Adrenal calcification, Splenomegaly |
ORPHA:75234 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility, Brachydactyly |
ORPHA:2787 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Pendred Syndrome |
|
Hypothyroidism, Thyroid carcinoma, Tracheal stenosis, Hyperparathyroidism, Goiter |
ORPHA:705 |
| Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... |
ORPHA:562 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, ... |
OMIM:618955 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Macr... |
ORPHA:226313 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
| Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Dysphagia, Medullary thyr... |
ORPHA:1332 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Polysplen... |
ORPHA:65759 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Macroglossia, Goiter |
OMIM:274400 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... |
OMIM:120400 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Protrusio acetabuli, Hip osteoarthritis, Brachytelomesophalangy, Abnormality of the wr... |
ORPHA:2619 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... |
ORPHA:139471 |
| Feingold Syndrome |
|
Hallux valgus, Esophageal atresia, Toe syndactyly, Annular pancreas, Clinodactyly of the 5th fing... |
ORPHA:1305 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly... |
ORPHA:1795 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, High palate, Interphalangeal thumb joint contracture, Abnormal thumb mor... |
ORPHA:1927 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Syndactyly, Brachydactyly, Esophageal varix, Portal hyperten... |
OMIM:616589 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Wolman Disease |
|
Anemia, Adrenal insufficiency, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal vari... |
ORPHA:75233 |
| Congenital Hypothyroidism |
|
Hypothyroidism, Prolonged neonatal jaundice, Hypogonadism, Anterior hypopituitarism, Macroglossia... |
ORPHA:442 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Hydrolethalus |
|
Anophthalmia, Bifid uvula, Submucous cleft hard palate, Tracheal atresia, Microphthalmia, Cryptor... |
ORPHA:2189 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Goite... |
OMIM:275000 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis, Brachydactyly |
ORPHA:1937 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Anophthalmia, Microphthalmia, Cleft palate, Talipes equinovarus |
OMIM:613885 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Cryptorchidism |
ORPHA:77298 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Postaxial hand polydactyly, Short foot, Broad palm |
OMIM:611263 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Craniosynostosis 3 |
|
Left unicoronal synostosis, Sagittal craniosynostosis, Hallux valgus, Bicoronal synostosis, Singl... |
OMIM:615314 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, Brachydactyly, Syndactyly, Cryptorchidism |
OMIM:615982 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Multiple joint contractures, Abnormal foot bone ossification,... |
OMIM:300244 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Decreased circulating cortisol level, H... |
OMIM:146510 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Type II diabetes mellitus, Anal atresia, Brachydactyly, Short middle ph... |
ORPHA:1436 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac... |
OMIM:618392 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... |
OMIM:157900 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis, Premature ost... |
ORPHA:93307 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Cowden Syndrome 5 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615108 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| 20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly |
ORPHA:444051 |
| Albinism-Deafness Syndrome |
|
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Genu valgum, Reduced proximal interphalangeal joint space, Coxa vara, Short femoral neck, Flatten... |
ORPHA:166011 |
| Hypochondroplasia |
|
Short toe, Genu varum, Abnormality of the elbow, Abnormal pelvic girdle bone morphology, Joint hy... |
ORPHA:429 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortis... |
OMIM:615830 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Pseudohypoparathyroidism, Brachydactyly, Short metatarsal, Osteoporosis |
OMIM:612463 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Abnormality of the pancreas, Clubbing of ... |
ORPHA:1318 |
| Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossification, Short distal ... |
ORPHA:79445 |
| Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
| Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... |
ORPHA:3378 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Joint laxity, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, ... |
OMIM:610125 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis |
OMIM:248450 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
| Cowden Syndrome 6 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Hydrocele testis,... |
OMIM:615109 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Clef... |
ORPHA:1106 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft palate |
OMIM:619452 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Toe syndactyly, Clinodactyly of the 5... |
ORPHA:3409 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Delayed proximal femoral epiphyseal ossification, Clinodactyly of the... |
ORPHA:353298 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Abnormal pelvis bone ossification, Decreased skull ossification, Brac... |
ORPHA:1426 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
| Keipert Syndrome |
|
Clinodactyly, Camptodactyly, Joint laxity, Broad hallux, Broad thumb, Brachydactyly, Broad distal... |
OMIM:301026 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Clinodactyly, Brachydactyly, Syndactyly, Cryptorchidi... |
OMIM:600325 |
| Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
| Brachydactyly Type E |
|
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... |
ORPHA:93387 |
| Multiple Metaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Abnormality of tibia morphology,... |
ORPHA:93430 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Toe syndactyly, Anal atresia, C... |
ORPHA:261344 |
| Immunodeficiency 104 |
|
Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:608971 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing of to... |
ORPHA:2198 |
| Muenke Syndrome |
|
Short middle phalanx of toe, High palate, Capitate-hamate fusion, Coronal craniosynostosis, Thimb... |
OMIM:602849 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Premature thelarche, Abnormal hand morphology, Nodular goi... |
ORPHA:371428 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Joint stiffness, Abnormal pelvic girdle b... |
ORPHA:968 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Joint stiffness, Brachydactyly, ... |
ORPHA:969 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Dislocated radi... |
ORPHA:166016 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora... |
ORPHA:95699 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Small hand, Perianal abscess, Clinodactyly, Broad finger, Cryptorchidism... |
OMIM:614684 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Single... |
OMIM:616651 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Gastroesophageal reflux, Hallux valgus, Short metacarpal, Limitation of ... |
OMIM:151200 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Cooks Syndrome |
|
Triphalangeal thumb, Broad thumb, Split hand, Brachydactyly |
ORPHA:1487 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Abnormal diaphysis morpholog... |
ORPHA:1240 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly |
ORPHA:2150 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of finger... |
ORPHA:363417 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Osteoporosis, Lymphadenopathy, Osteolysis, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Osteopenia, Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension |
OMIM:617341 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Short finger, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... |
OMIM:193530 |
| Gracile Bone Dysplasia |
|
Asplenia, Slender long bone, Ankyloglossia, Flared metaphysis, Microphthalmia, Decreased skull os... |
OMIM:602361 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly |
OMIM:619248 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypothyroidism, Short metacarpal, Hypogonadism, Short finger, Elevated circulating par... |
OMIM:103580 |
| Perlman Syndrome |
|
Hyperinsulinemia, Bilateral single transverse palmar creases, Hepatomegaly, Cryptorchidism, Abnor... |
ORPHA:2849 |
| 14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Short 4th metacarpal, Short foot, Short 5th me... |
ORPHA:264200 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Cryptorchidism, Brac... |
ORPHA:921 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Abnormality of mesentery morphology, Abnormality of... |
ORPHA:93941 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Thyroiditis, Palmoplantar hype... |
OMIM:158350 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, High palate, Anterior hypopituitarism, Anal atresia, Brachydactyly, Cryp... |
ORPHA:2863 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Short metacarpal, Brach... |
OMIM:603233 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Increased circulating T4 concentr... |
ORPHA:525731 |
| Adams-Oliver Syndrome |
|
Leukopenia, Abnormality of the upper limb, Cirrhosis, Finger syndactyly, Abnormal metacarpal morp... |
ORPHA:974 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon, Short thumb, Type D brachydactyly |
OMIM:306980 |
| Familial Adenomatous Polyposis |
|
Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ch... |
ORPHA:733 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Triphalangeal thumb, Toe syndactyly, Absent middle phalanx of 5th finger, Bilateral triphalangeal... |
OMIM:124480 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Short long bone, Laryngotracheal stenosis, Abnorma... |
ORPHA:1190 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:652 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, E... |
ORPHA:411696 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Joint hyperflexibility, Br... |
ORPHA:1777 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly |
ORPHA:1277 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Bowing of the long bones, Joint hyperflexibility, Brachydactyly |
ORPHA:40 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Type II diabetes mellitus, Hand polydactyly, Bilateral single transverse palma... |
ORPHA:2377 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Broad thumb, Brachydactyly, Short ... |
ORPHA:1278 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis morphology, Polycystic ... |
ORPHA:457059 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Malabsorption, Jaundice, Esophageal varix, Cholecystitis, Intestinal obstruction, Hepa... |
ORPHA:131 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Anauxetic Dysplasia 2 |
|
Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Hypoplastic iliac body, Macroglos... |
OMIM:617396 |
| Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the tongue, Anophtha... |
ORPHA:564 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Hypothyroidi... |
ORPHA:3206 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Brachydactyly, Cone-shaped epiphysis, Osteoarthritis, Delayed epiphyseal ossification |
OMIM:618618 |
| Jeune Syndrome |
|
Abnormality of the liver, Toe syndactyly, Abnormal pelvic girdle bone morphology, Postaxial foot ... |
ORPHA:474 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Abnormalit... |
ORPHA:3098 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Hepatomega... |
OMIM:619463 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Cryptorchidism, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
| Acrocephalopolydactyly |
|
Brachydactyly, Hepatosplenomegaly, Short long bone |
ORPHA:221054 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Increased circulating free T3, Thyroid h... |
OMIM:609152 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
| Nicolaides-Baraitser Syndrome |
|
Abnormal finger morphology, Abnormal testis morphology, Abnormal metacarpal morphology, Clubbing ... |
ORPHA:3051 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand, ... |
OMIM:146000 |
| Bent Bone Dysplasia Syndrome 1 |
|
Abnormally large globe, Hypoplastic pubic bone, Coronal craniosynostosis, Hepatosplenomegaly, Dec... |
OMIM:614592 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Short femoral neck, Short long bone, Anter... |
OMIM:602152 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Brachydactyly, Dislocated radial head, Intestinal malrotation, Cryptorchidism, Shor... |
ORPHA:401935 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Esophageal atresia, Hypoplasia of the radius, Hip dislocation, Anal atresia, Trache... |
ORPHA:3412 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Diabetes mellit... |
OMIM:614613 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Broad hallux, Brachydactyly, Short thumb, Osteoarthritis |
OMIM:165800 |
| Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morphology, Spleno... |
ORPHA:100025 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hypothyroidism, Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Joint contracture of ... |
ORPHA:456312 |
| Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of the humerus, Synostosis of carpal bones, Abnormal metacarpal morpholo... |
ORPHA:2496 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Clinodactyly, Metaphyse... |
OMIM:184250 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Alg6-Cdg |
|
Abnormality of the liver, Increased circulating androgen concentration, Shortening of all distal ... |
ORPHA:79320 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Ca... |
OMIM:113000 |
| Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
| Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Flexion contracture, Tapered finger, Small hand, Hypogonadism, Clinodact... |
OMIM:615547 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... |
OMIM:619375 |
| Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Abnormally ossified vertebrae, Joint stiffness, Hypoplast... |
ORPHA:2746 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Joint stiffn... |
ORPHA:2900 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:99819 |
| Carpenter Syndrome 1 |
|
Precocious puberty, Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus addu... |
OMIM:201000 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Brach... |
ORPHA:2928 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Camptodactyly, R... |
OMIM:136760 |
| Sillence Syndrome |
|
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... |
ORPHA:3168 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Premature pubarche, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
| Cornelia De Lange Syndrome 2 |
|
Gastroesophageal reflux, High palate, Limited elbow movement, Small hand, Clinodactyly, Proximal ... |
OMIM:300590 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Intestinal polyposis, Hashimoto thyroiditis, Papillary thyroid carcinom... |
OMIM:616858 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Joint laxity, Brachydactyly |
OMIM:619692 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Decreased response to growth hormone stimulation test, ... |
OMIM:147250 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads, Short humerus |
OMIM:601438 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Hypoplastic inferior ... |
OMIM:608940 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:424 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Achalasia, Gastroesophageal reflux, Esophageal stricture, D... |
OMIM:617053 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydac... |
ORPHA:444002 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Pfapa Syndrome |
|
Malabsorption, Arthritis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, High palate, Anophthalmia |
ORPHA:66625 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Short metacarpal,... |
OMIM:612462 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Decreased testicular size, Type II diabetes mellitus, Brachydactyly,... |
ORPHA:3085 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... |
ORPHA:1520 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... |
OMIM:617405 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... |
OMIM:184260 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Mitten deformity, Anemia, Flexion contracture, Esophageal stricture, Abnormal esophagus morpholog... |
OMIM:226600 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Hypothyroidism, Bifid uvula, Clinodactyly of the... |
ORPHA:3047 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, High palate, Hip dislocation, Clinodactyly of the 5th finger, Joint laxity, Syndactyl... |
OMIM:619451 |
| Cockayne Syndrome Type 2 |
|
Flexion contracture, Anophthalmia, Male hypogonadism, Hepatomegaly, Cryptorchidism |
ORPHA:90322 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Brachydactyly, Cleft ... |
OMIM:244600 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Syndactyly, Portal vein thrombosis, Brachydactyly, Esophageal varix, Splenomegaly |
OMIM:616028 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Small hand, Clinodactyly, Joint laxity, An... |
ORPHA:94065 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Abnormal pelvis bone oss... |
ORPHA:1505 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Splenomegaly |
OMIM:619164 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnormal metacarpal morpholo... |
ORPHA:2511 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, High palate, Nodular goiter, Parathyroid hyperplasia, Aganglionic megacolon,... |
OMIM:162300 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Crypto... |
ORPHA:899 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Ulnar deviat... |
OMIM:618162 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, ... |
ORPHA:88630 |
| Glycogen Storage Disease Iv |
|
Cirrhosis, Hepatosplenomegaly, Esophageal varix, Portal hypertension, Arthrogryposis multiplex co... |
OMIM:232500 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Erythrokeratodermia Variabilis |
|
Tapered finger, Abnormal testis morphology, Diabetes mellitus, Brachydactyly, Patchy palmoplantar... |
ORPHA:317 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... |
ORPHA:96181 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Cryptorchidism, Postaxial polydactyly, Short long bone |
OMIM:615633 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Hypothyroidism, Abnormality of the thyroid gland, Esophageal atresia |
ORPHA:1923 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Hypothyroidism, Toe syndactyly, Anterior hypopituitarism, Bifid uvula, Cleft palate,... |
OMIM:607932 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Pancreatic cysts, Hepa... |
OMIM:208500 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis |
ORPHA:2717 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Short toe, Tapered finger, Hallux valgus, Short finger, Joint hypermobility, ... |
OMIM:618659 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Hip dysplasia, Tracheal stenosis, Congenit... |
OMIM:601427 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Bilateral cryptorchidism, ... |
OMIM:305400 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Alopecia-Intellectual Disability Syndrome |
|
Hypergonadotropic hypogonadism, Flexion contracture, Split hand, Brachydactyly |
ORPHA:2850 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Pheochromocytom... |
OMIM:171400 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Macroorchidism, Arachnodactyly, High palate, Joint hyperflexibility, Bra... |
ORPHA:776 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Anterior pituitary hypoplasia, Anophthalmia, Esophageal atresia, Optic nerve ap... |
OMIM:206900 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Optic nerve hyp... |
ORPHA:65288 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd finger, Precocious puberty, Coxa valga, Short foot, Wide pubic symphysis,... |
OMIM:620073 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... |
ORPHA:210122 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Hypogonadism, Decreased testicular size, Joint laxity, Macroglossia, Brachydactyly, D... |
OMIM:300354 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Hepatic bridging fibrosis, Bile du... |
OMIM:619662 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Hip dysplasia, Pancytopenia, Inflammation of the large intestine, Cholestasis, Hepatom... |
OMIM:614576 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal s... |
ORPHA:424019 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Generalized bone demineralization, Shor... |
ORPHA:93352 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Clubbing of fingers, Hepatospleno... |
OMIM:618982 |
| Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Epiphyseal stippling, Macroglossia, Brachydactyly, Short di... |
ORPHA:1914 |
| Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Leukocytosis, Hepatomegaly, S... |
ORPHA:37748 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Clubbing of fingers, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune... |
OMIM:618534 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Talipes equinovarus, Ulnar deviation of finger, Cryptorchi... |
ORPHA:1101 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anemia, Metaphyseal cupping, Coxa vara, Neutropenia, Esophageal atresia, M... |
OMIM:250250 |
| Acrodysostosis |
|
Short toe, Short metacarpal, Hypogonadism, Hypoplasia of the radius, Epiphyseal stippling, Abnorm... |
ORPHA:950 |
| Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Laryngotracheomalacia, Broad thumb, Cryptorchidism, Jo... |
ORPHA:503 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Narrow palate, Brachydactyly |
OMIM:617169 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Clinodactyly, Camptodactyly, Macroglossia, Hepatomegaly, Brachydactyly, Splenomegaly... |
OMIM:616354 |
| Feingold Syndrome 1 |
|
2-3 toe syndactyly, Short toe, Asplenia, High palate, Jejunal atresia, Gastrointestinal atresia, ... |
OMIM:164280 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Precocious puberty, High palate, Hypogonadism, Clinodactyly of the 5th finger... |
ORPHA:3306 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Abnormality of the humerus, Adduct... |
ORPHA:1794 |
| Fanconi Anemia, Complementation Group Q |
|
Absent thumb, Biliary atresia, Esophageal atresia, Anteriorly placed anus, Bone marrow hypocellul... |
OMIM:615272 |
| Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Malabsorption, Br... |
OMIM:600705 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Increased circulating cortisol level, Type II diabetes mel... |
ORPHA:189439 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Joint stiffness, Brachydactyly |
OMIM:614819 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Short toe, Upper limb undergrowth, Short metacarpal, Broad phalanx, Join... |
ORPHA:439822 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Achilles tendon contracture, Hip dislocation, Steatorrhea, Hepa... |
OMIM:616263 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, Thrombocytosis, Leuk... |
OMIM:209950 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Supernumerary nipple, Postaxial ha... |
OMIM:305600 |
| Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Septo-optic dysplasia, Esophageal atresia, Mat... |
ORPHA:3157 |
| Fanconi Anemia, Complementation Group B |
|
Absent thumb, Hypogonadism, Bilateral radial aplasia, Esophageal atresia, Optic disc hypoplasia, ... |
OMIM:300514 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs, Pancreatic f... |
OMIM:615503 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Osteoarthritis, Bifid u... |
ORPHA:1427 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Hepatic fibrosis, Short long bone, Cone-shaped epiphyses of the phalanges of the han... |
OMIM:615630 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Fibular a... |
OMIM:228900 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:251274 |
| Aredyld Syndrome |
|
Type II diabetes mellitus, Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic g... |
ORPHA:1133 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Gastroesophageal reflux, Genu valgum, Metaphyseal cupping, Short metacarpal, Bro... |
OMIM:618853 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, Decreased response to growth... |
ORPHA:485405 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Aganglionic ... |
OMIM:148820 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Epiphyse... |
OMIM:215140 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Increased carrying angle, Hypoparathyroidism, Brachydactyly |
OMIM:247410 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Dysphagia, Clinodactyly, Camptodactyly, Hammertoe, Hyperextensible hand join... |
OMIM:275900 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Adducted thumb, Single transverse palmar crease, Hydrocele testis, Brachydactyly |
OMIM:620062 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... |
ORPHA:209905 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
| Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... |
OMIM:140000 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Lymphadenopathy |
OMIM:617772 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Holoprosencephaly |
|
Gastroesophageal reflux, Diabetes insipidus, Anophthalmia, Anterior hypopituitarism, Hand polydac... |
ORPHA:2162 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpa... |
OMIM:210720 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Short metacarpal, Brachydactyly, Deviation of finger, Deformed humeral he... |
ORPHA:2831 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Laron Syndrome |
|
Short toe, Abnormality of the elbow, Delayed puberty, Brachydactyly, Abnormality of the endocrine... |
ORPHA:633 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... |
OMIM:601957 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Arthritis, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune th... |
OMIM:615559 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Joint hypermobility, Abnormal esophagus morphology, Dysp... |
OMIM:613706 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Tapered finger, Hip contracture, Small hand, Annular pancreas, Ankylogl... |
ORPHA:488642 |
| Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Finger swelling, Gastroesophageal reflux, Flexio... |
ORPHA:90291 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Abnormal erythrocyte enzyme level, Portal fibrosis, Hepatic ... |
ORPHA:264580 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
| Dyskeratosis Congenita |
|
Anorectal anomaly, Anemia, Cirrhosis, Recurrent fractures, Abnormal testis morphology, Malabsorpt... |
ORPHA:1775 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Lymphopenia, Anal... |
OMIM:617425 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger, Brachydactyly |
ORPHA:1858 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Mitten deformity, Gastroesophageal reflux, Anemia, Flexion contracture, Esophageal stricture, Ank... |
ORPHA:89842 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormality of the wrist, Osteolysis, Abnormal diaphysis morphology, Abnormality of the hand, Bra... |
ORPHA:1657 |
| Down Syndrome |
|
Hypothyroidism, Narrow palate, Acute megakaryocytic leukemia, Aganglionic megacolon, Type II diab... |
ORPHA:870 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... |
OMIM:167800 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node ge... |
OMIM:608184 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Hyperaldosteronism, Increased circulating cortisol level, ... |
ORPHA:189427 |
| Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Leukocytosi... |
ORPHA:1451 |
| Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Parathyroid hypoplasia, Hypoparathyroidism, Dysphagia, B... |
OMIM:214800 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Sandal gap, Osteopenia, Brachydactyly, Thrombocytope... |
OMIM:617475 |
| Cowden Syndrome |
|
Colorectal polyposis, High palate, Enlarged polycystic ovaries, Adenoma sebaceum, Bone cyst, Macr... |
ORPHA:201 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Finger syndactyly, Aplasia of the distal phalanx of the 2nd finger, Epiphyse... |
OMIM:308050 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Tracheal stenosis, Proximal tibial hypoplasia,... |
OMIM:236680 |
| Roberts Syndrome |
|
Wrist flexion contracture, Phocomelia, Radial deviation of finger, Cleft palate, Thrombocytopenia... |
ORPHA:3103 |
| Apert Syndrome |
|
Humeroradial synostosis, Ectopic anus, Bifid uvula, Postaxial hand polydactyly, Cleft palate, Lam... |
OMIM:101200 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Bifid tongue, Short long bone, Absent tibia, Short ... |
OMIM:613091 |
| Desmoplastic Small Round Cell Tumor |
|
Anemia, Ileus, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediasti... |
ORPHA:83469 |
| Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Esophageal varix, Hematemesis, Hepatomeg... |
OMIM:263200 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Lymphadenopathy, Abnormality of the peritoneum, Intestinal o... |
ORPHA:26790 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thrombocytopenia, Splenom... |
OMIM:613101 |
| Caroli Syndrome |
|
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Esophageal va... |
ORPHA:480520 |
| Marinesco-Sjögren Syndrome |
|
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fing... |
ORPHA:559 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Coronal craniosynostosis, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, I... |
ORPHA:313855 |
| Omenn Syndrome |
|
Short toe, Anemia, Hypothyroidism, Thyroiditis, Lymphadenopathy, Eosinophilia, Leukocytosis, Hepa... |
ORPHA:39041 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
| Thyroid Ectopia |
|
Hypothyroidism, Jaundice, Macroglossia, Abnormality of the thyroid gland, Ectopic thyroid |
ORPHA:95712 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Elevated circulating thyroid-stimulating hormone concentration, Short me... |
OMIM:101800 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... |
ORPHA:98848 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Malabsorption, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fracture, Oste... |
ORPHA:98850 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, High palate, Hallux valgus, Toe syndactyly, Short distal phal... |
ORPHA:1327 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, High palate, Clinodactyly, Camptodactyly, Single transverse palmar creas... |
OMIM:613604 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Gastroesophageal reflux, T lymphocytopenia, Multiple joint contractures, Decreased serum estradio... |
ORPHA:2959 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Sagittal craniosynostosis, Elevated ci... |
OMIM:610199 |
| Aspergillosis |
|
Osteomyelitis, Abnormal long bone morphology, Hepatitis, Abnormal esophagus morphology, Eosinophi... |
ORPHA:1163 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Optic nerve hypoplasia, Decreased circulating T4 concentration, Decreased cir... |
ORPHA:226307 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Postaxial ha... |
OMIM:200995 |
| Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Eso... |
ORPHA:53035 |
| Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum |
ORPHA:545 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Cleft palate, Craniosynostosis |
ORPHA:2145 |
| Congenital Toxoplasmosis |
|
Anemia, Jaundice, Lymphadenopathy, Microphthalmia, Hepatomegaly, Thrombocytopenia |
ORPHA:858 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... |
OMIM:223800 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Flexion contracture, Short foot, Shor... |
OMIM:611717 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Brachydactyly, Pseudohypoparathyroidism, Cryptorchidism, Short fourth metata... |
ORPHA:464288 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Osteoglosphonic Dysplasia |
|
Craniosynostosis, Abnormal bone ossification, Cryptorchidism, Brachydactyly |
ORPHA:2645 |
| Anauxetic Dysplasia 1 |
|
Short toe, Hip contracture, Short foot, Hypoplastic ilia, Elbow flexion contracture, Short finger... |
OMIM:607095 |
| Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, ... |
OMIM:304790 |
| Potocki-Shaffer Syndrome |
|
Brachydactyly, Single transverse palmar crease, 2-5 finger cutaneous syndactyly |
OMIM:601224 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... |
OMIM:609981 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Tapered finger, Thyroid hypoplasia, Calcaneovalgus deformity, Buphthalmos, Abnorm... |
ORPHA:521445 |
| Bohring-Opitz Syndrome |
|
Short toe, Gastroesophageal reflux, Flexion contracture, Tapered finger, Narrow palate, Ulnar dev... |
OMIM:605039 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease, Bowing of the long bones |
OMIM:211890 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Esophageal varix, Hepatomegaly, P... |
OMIM:216360 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Tracheal stenosis, Syndactyly, Anteriorly placed anus, Proximal placement of thumb,... |
OMIM:217980 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly... |
ORPHA:570 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Precocious puberty, Anophthalmia, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| 2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Pyloric stenosis, Cl... |
ORPHA:1001 |
| Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Abnormality of the wrist, Hip dislocation, Osteolysis, Dysphagia, S... |
ORPHA:198 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Abnormal ... |
ORPHA:251014 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Portal ... |
ORPHA:370 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... |
ORPHA:1876 |
| Charge Syndrome |
|
Gastroesophageal reflux, Anophthalmia, Anterior hypopituitarism, Clinodactyly of the 5th finger, ... |
ORPHA:138 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Hepatic fibrosis, Esophageal stricture, Palmoplantar hyperkeratosis, Pancytopenia, Th... |
OMIM:613989 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Hypothyroidism, Atrophic gastritis, B lymphocytopenia, Villous atrophy, Arth... |
OMIM:614700 |
| Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Anophthalmi... |
OMIM:610829 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Lymphadenopathy, Decreased proportion o... |
OMIM:618048 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis |
OMIM:615190 |
| Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Osteoporosis, Brachydactyly |
OMIM:234250 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Stomach cancer, Anemia, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Short long bone, Anal atresia, Esophagea... |
OMIM:617925 |
| Mohr Syndrome |
|
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... |
OMIM:252100 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Pancytopenia, Bone marrow hypocellularity, Oral leukoplakia, Aplastic anemia |
OMIM:616553 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, High palate, Finger syndactyly, Hip dysplasia,... |
ORPHA:710 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Short long bone, Abnormal metatarsal morphology, Aplasia/Hypoplasia involving the pelvis, Hypopla... |
ORPHA:163654 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Tracheoesophageal f... |
OMIM:619859 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Tracheal stenosis, Anal atresia, Aplasia/Hypoplasia involving the pelvis, ... |
ORPHA:3301 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Jaundice, Thyroid hypoplasia, Macroglossia |
ORPHA:95720 |
| Coffin-Siris Syndrome 2 |
|
High palate, Macroglossia, Brachydactyly, Sandal gap, Cryptorchidism, Short distal phalanx of fin... |
OMIM:614607 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia |
ORPHA:2357 |
| Congenital Respiratory-Biliary Fistula |
|
Abnormality of the liver, Tracheal stenosis |
ORPHA:2040 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Intestinal malrotation, Sing... |
OMIM:617866 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Elbow flexion con... |
ORPHA:56304 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Metaphyseal irregularity, Genu valgum, Tapered finger, Decreased response to growth hormone stimu... |
OMIM:616007 |
| Cartilage-Hair Hypoplasia |
|
Abnormal distal phalanx morphology of finger, Metaphyseal chondrodysplasia, Limited elbow extensi... |
ORPHA:175 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Androgen insufficiency, Anal atresia, Cryptorchidism, Cleft palate, Abnormali... |
ORPHA:95706 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Short iliac bones, Supernumerary nipple, Acetabular spurs, Hepatomegal... |
OMIM:614376 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Hand clenching, Flexion contracture, Hypothyroidism, Anophthalmia, Adrenal in... |
OMIM:300166 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Hypoplastic spleen |
OMIM:601186 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Hypothyroidism, Hypoparathyroidism, Brachydactyly |
ORPHA:1563 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... |
OMIM:618914 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... |
ORPHA:369929 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Osteolys... |
ORPHA:137834 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Cirrhosis, Flexion contracture, Hepatosplenomegaly, Hepatomegaly, Esophageal varix, Portal hypert... |
ORPHA:367 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Abnormal metacarpal morphology, Brachydactyly, Hypogonadotropic hypogonadism, Short ... |
ORPHA:1295 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Ulcerative colitis, Lymphopen... |
OMIM:618935 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Hepatic cysts, Short long bone |
OMIM:613819 |
| Shwachman-Diamond Syndrome 2 |
|
Genu varum, Metaphyseal irregularity, High palate, Neutropenia, Normocytic anemia, Steatorrhea, H... |
OMIM:617941 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Velopharyngeal insufficiency, Brachydactyly, Broad thumb, Cryptorchidi... |
OMIM:300978 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Hypogonadism, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cryptorchid... |
ORPHA:2250 |
| Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:100026 |
| Cleidocranial Dysplasia |
|
Genu valgum, Tapered finger, Coxa vara, Recurrent fractures, Glossoptosis, High, narrow palate, H... |
ORPHA:1452 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal widening, Squar... |
OMIM:618961 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ulnar deviation of the hand or of fingers of the hand, Hypoplasia of the radius, Slender long bon... |
OMIM:602613 |
| Rin2 Syndrome |
|
Increased susceptibility to fractures, High palate, Joint hypermobility, Brachydactyly, Hypergona... |
ORPHA:217335 |
| Gorlin Syndrome |
|
Palmar pits, Vertebral fusion, Arachnodactyly, Cryptorchidism, Brachydactyly, Hypogonadotropic hy... |
ORPHA:377 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism, Cleft pal... |
OMIM:619123 |
| Benign Schwannoma |
|
Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph... |
ORPHA:252164 |
| Lig4 Syndrome |
|
Hypothyroidism, Malabsorption, Type II diabetes mellitus, Clinodactyly of the 5th finger, Pancyto... |
ORPHA:99812 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| Rubinstein-Taybi Syndrome |
|
High palate, Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, ... |
ORPHA:783 |
| Frontorhiny |
|
Camptodactyly of finger, Diabetes insipidus, Bifid tongue, Hypopituitarism, Microphthalmia, Brach... |
ORPHA:391474 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Anal atresia, Hypoplastic pelvis, Microphthalmia, Cleft palate |
OMIM:273395 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Single tr... |
OMIM:236500 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Peg-like central prominence of distal tibial metaphyses, Flexion contracture, High palate, Coxa v... |
OMIM:300232 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Esophageal stricture, Palmoplantar hyperkeratosis, Pancytopenia, Bone marrow hy... |
OMIM:224230 |
| Pycnodysostosis |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Decreased response to growth hormo... |
ORPHA:763 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Decreased calvarial ossification, Brachydactyly, Cleft palate, Craniosynostosi... |
OMIM:618265 |
| Familial Multinodular Goiter |
|
Colorectal polyposis, Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goite... |
ORPHA:276399 |
| Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Short metatarsal, Hyperthyroidism, High palate, Short foot, Short metaca... |
OMIM:170390 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Hand polydactyly, Anal atresia, Tracheoesophageal fistula, Proximal placement... |
OMIM:314390 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... |
ORPHA:1333 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short palm, Short foot, Brachydactyly |
OMIM:618522 |
| Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Preaxial hand polydactyly, Abnormality of the pancreas, Finger syndactyly, Abn... |
ORPHA:887 |
| Cockayne Syndrome Type 1 |
|
Anemia, Foot joint contracture, Anophthalmia, Male hypogonadism, Hepatomegaly, Cryptorchidism |
ORPHA:90321 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Short greater sciat... |
OMIM:187601 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Mckusick-Kaufman Syndrome |
|
High palate, Finger syndactyly, Ectopic anus, Aganglionic megacolon, Abnormal metacarpal morpholo... |
ORPHA:2473 |
| Cerebrooculonasal Syndrome |
|
Narrow palate, Anophthalmia, High palate, Optic nerve hypoplasia, Postaxial hand polydactyly, Cle... |
OMIM:605627 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Neutropenia, Brachydactyly |
ORPHA:2643 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Glossoptosis, Short femur, Femoral bowing, Brachydactyly, Cleft palate... |
ORPHA:440354 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
| Pten Hamartoma Tumor Syndrome |
|
Thyroid adenoma, Colon cancer, Multinodular goiter, Thyroid carcinoma |
ORPHA:306498 |
| Trisomy 8Q |
|
Camptodactyly of finger, Bifid tongue, High palate, Joint stiffness, Brachydactyly, Cryptorchidis... |
ORPHA:1752 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... |
ORPHA:231580 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Thyroid hypoplasia, Anal atresia, Intestinal malrotation, Microphthalmia, Cryptorchidism, Postaxi... |
ORPHA:2166 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gastroesophageal reflux, Hypothyroidism, Abnormality of the liver, Hyperthyroidism, Diabetes mell... |
ORPHA:254892 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Arthritis, Esophageal varix, Type I diabetes mellitus, Pancytopenia, Hepatosp... |
OMIM:615688 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Short foot, Brachydactyly |
OMIM:266265 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hepatic fibrosis, High palate, Short long bone, Flat acetabular roof, Short uvula, C... |
OMIM:614091 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hypogonadism, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Post... |
OMIM:615994 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Genu valgum, Clinodactyly of the 2nd finger, Monkey wrench femoral neck, Fing... |
OMIM:618870 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Monosomy 18P |
|
Cleft palate, Hypothyroidism, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Arthritis, Lymphopenia, Autoimmune thrombocytopenia, Autoimm... |
OMIM:616100 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Myelofibrosis, Autoimmune hemolytic anemia, Lymphade... |
OMIM:301078 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short femoral neck, Short metacarpal, Small hand, Clinodactyly, Breast hypoplasia, Diabetes melli... |
OMIM:614813 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... |
OMIM:269250 |
| Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
| Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Short palm, High, narrow palate, Brachydactyly |
ORPHA:3238 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... |
OMIM:615935 |
| Fryns Syndrome |
|
Joint contracture of the hand, Esophageal atresia, Aganglionic megacolon, Polysplenia, Camptodact... |
OMIM:229850 |
| Hardikar Syndrome |
|
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem... |
OMIM:301068 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
| Achondroplasia |
|
Short long bone, Flat acetabular roof, Short proximal phalanx of finger, Brachydactyly, Bowing of... |
ORPHA:15 |
| Immunodeficiency 31C |
|
Hypothyroidism, Osteomyelitis, Villous atrophy, Intussusception, Lymphopenia, Impaired lymphocyte... |
OMIM:614162 |
| Poems Syndrome |
|
Hypothyroidism, Increased circulating prolactin concentration, Metaphyseal sclerosis, Hypogonadis... |
ORPHA:2905 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
| Branchiootorenal Syndrome 1 |
|
High palate, Bifid uvula, Intestinal malrotation, Congenital hip dislocation, Euthyroid goiter, C... |
OMIM:113650 |
| Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatocellular carcinoma, Gout, Osteoporosis, Inflammation of the large intestine, ... |
OMIM:232220 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... |
OMIM:617604 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Type I diabetes mellitus, Limitation of joint mobility, Lymphadenopathy |
ORPHA:69126 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Osteop... |
ORPHA:2658 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, High palate, Clinodactyly, Brachydactyly, Single transverse palmar crease, Cryptorch... |
OMIM:618950 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Hyperostosis, Abnormality of the parathyroid gland, Thymus hyperplasia, Splen... |
ORPHA:2969 |
| Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Jejunal atresia, Short middle phalanx of the 5th finger, Esophageal atresia, ... |
ORPHA:391641 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
| Atelosteogenesis, Type I |
|
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia... |
OMIM:108720 |
| Thanatophoric Dysplasia |
|
Hip dysplasia, Abnormal sacroiliac joint morphology, Abnormal ilium morphology, Brachydactyly, Jo... |
ORPHA:2655 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anemia, Short digit, Anisopoikilocytosis, Syndactyly, Proximal placement of thumb, Osteopenia, Br... |
OMIM:615789 |
| Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur, Congenital hip... |
ORPHA:93333 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, High palate, Hepatosplenomegaly, Lymphadenopathy, Cubitus valgus, Microcytic anemia |
OMIM:619750 |
| Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Forearm reduction defects, Small hand, Hypogonadism, Annular pancreas, Congenital hi... |
OMIM:268400 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Clinodac... |
OMIM:616331 |
| 3C Syndrome |
|
Gastroesophageal reflux, Finger syndactyly, Ectopic anus, Hand polydactyly, Anal atresia, Intesti... |
ORPHA:7 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Elbow flexion contracture, Camptodactyly, Hepatosplenomeg... |
OMIM:602782 |
| Lowry-Wood Syndrome |
|
Elbow flexion contracture, Hip dislocation, Irregular epiphyses, Clinodactyly of the 5th finger, ... |
OMIM:226960 |
| Lowry-Wood Syndrome |
|
Coxa vara, Irregular epiphyses, Joint stiffness, Elbow dislocation, Dislocated radial head, Epiph... |
ORPHA:1824 |
| Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Parathyroid adenoma, Aganglionic megacolon, Parathyroid hyperplasia, Neoplas... |
ORPHA:653 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism, Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Dubowitz Syndrome |
|
Toe syndactyly, Acute lymphoblastic leukemia, Metatarsus adductus, Hypoparathyroidism, Thrombocyt... |
ORPHA:235 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Wilson Disease |
|
Anemia, Cirrhosis, Hemolytic anemia, Osteomalacia, Jaundice, Hepatocellular carcinoma, Atypical o... |
OMIM:277900 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Gastroesophageal reflux, Short femoral neck, Coxa vara, Velopharyngeal insuff... |
OMIM:614701 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
| Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Abnormal forearm morphology, Abnormality of the thyroid gland, Brac... |
OMIM:182290 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Clinodactyly of the 4th toe, Short 1st metacarpal, Aplasia/Hypopl... |
ORPHA:264450 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Congenital contracture, Thymus hyperplasia, Talipes equinovarus, Arachnodactyly |
OMIM:619036 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Increased circulating ACTH level,... |
ORPHA:90790 |
| Coffin-Siris Syndrome 6 |
|
Gastroesophageal reflux, Clinodactyly, Brachydactyly, Cleft palate, High, narrow palate |
OMIM:617808 |
| Fraser Syndrome |
|
Wide pubic symphysis, Anophthalmia, Finger syndactyly, Ectopic anus, Toe syndactyly, Bifid tongue... |
ORPHA:2052 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, High palate, Thyroid hypoplasia, Tracheoesophageal fistula, Microphthal... |
ORPHA:861 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Abnormality of the ischium, Abnormal spleen morphology, Abnormal lympha... |
ORPHA:464329 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Tracheal stenosis, Contracture of the distal interphalangeal joint of th... |
OMIM:607015 |
| Codas Syndrome |
|
Short metacarpal, Extrahepatic biliary duct atresia, Abnormal pelvic girdle bone morphology, Cong... |
ORPHA:1458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, High palate, Short foot, Furrowed tongue, Decreased testicular size, Cryptor... |
OMIM:300534 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Recurrent infection of the gastrointestinal tract |
OMIM:605258 |
| Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Microphthalmia, Brachydactyly, Talipes equinovarus |
OMIM:218340 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Polycystic ovaries, Broad thumb, Brachydactyly, Cleft... |
ORPHA:1770 |
| Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Brachydactyly |
OMIM:616459 |
| Pseudohypoparathyroidism Type 1C |
|
Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Short metacarpal, ... |
ORPHA:79444 |
| Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Short toe, Lobulated tongue, Preaxial hand polydactyly, Abnormality of the panc... |
ORPHA:2750 |
| Classic Hodgkin Lymphoma |
|
Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Hepatic fibrosis, Short long... |
OMIM:263520 |
| Premature Aging Syndrome, Penttinen Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Recurrent fractures, Slender long... |
OMIM:601812 |
| Endocrine-Cerebroosteodysplasia |
|
Median cleft palate, Talipes equinovarus, Adrenal hypoplasia, Hitchhiker thumb, Brachydactyly, Sy... |
OMIM:612651 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli... |
OMIM:274000 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Coxa vara, Flat capital femoral epiphysis, Met... |
OMIM:271510 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Camptodactyly, Elbow contracture, Dislocated radial head, Cleft palate, Talipes equi... |
OMIM:617137 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Joint contracture of ... |
OMIM:231050 |
| Woolly Hair Nevus |
|
Precocious puberty, Brachydactyly |
ORPHA:79414 |
| Gastroesophageal Reflux |
|
Esophagitis, Gastroesophageal reflux, Esophageal neoplasm, Barrett esophagus |
OMIM:109350 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, High palate, Hypogonadism, Foot polydactyly, Decreased testicular size, Agangli... |
OMIM:209900 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Wide pubic symphysis, Anoph... |
OMIM:219000 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Asplenia, Sagittal craniosynostosis, Short 4th metacarpal, Limited elbow movemen... |
ORPHA:221120 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Joint hyperflexibility, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epip... |
ORPHA:2824 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Anemia, Flexion contracture, Hip osteoarthritis, Enthesitis, Abnormal hip joint m... |
ORPHA:85408 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Arthritis, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... |
OMIM:620133 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Gonadotropin deficiency, Toe syndactyly, Bifid uvula, H... |
ORPHA:672 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Gastroesophageal reflux, Brachydactyly, Intestinal malrotation, Cryptorchidism, Cleft palate, Cra... |
ORPHA:457193 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Flexion contracture, Abnormality of the elbow, Short metacarpal, Irregular epiphyses... |
ORPHA:263463 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achalasia, Hypo... |
ORPHA:1018 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, High palate, Broad thumb, Brachydactyly, Short distal phalanx of finger,... |
ORPHA:1784 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Short 4th metacarpal, Short 5th metacarpal, Short metacarpal, ... |
ORPHA:79443 |
| Jansen-De Vries Syndrome |
|
Gastroesophageal reflux, Short foot, Small hand, Brachydactyly |
OMIM:617450 |
| Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly, Dysphagia |
ORPHA:50251 |
| Kury-Isidor Syndrome |
|
High palate, Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker... |
OMIM:619762 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Anemia, Hip dys... |
OMIM:620072 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Anemia, Precocious puberty, Coxa vara, Narrow pelvis bone, Clinodactyly o... |
ORPHA:2637 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short toe, Lobulated tongue, Short foot, Periportal fibrosis, Bowing of the arm, Short long bone,... |
OMIM:269860 |
| Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Hypothyroidism, Precocious puberty, Toe syndactyly, Hand polydactyly, Cl... |
ORPHA:819 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Aplasia/Hypopl... |
ORPHA:989 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of CD8-positiv... |
ORPHA:911 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, T lymphocytopenia, Elbow flexion contracture, Aplasia/hypoplasia involvi... |
ORPHA:508533 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Anemia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Microphthalmia... |
OMIM:614083 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Enterocolitis, Monocytopenia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, Split hand, ... |
ORPHA:1860 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
| Distal Monosomy 12Q |
|
2-3 toe syndactyly, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, ... |
ORPHA:96149 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Short distal phalanx of finger |
ORPHA:1547 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
| Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Esophageal v... |
OMIM:215600 |
| Plummer-Vinson Syndrome |
|
Esophageal web, Tongue atrophy, Glossitis, Hypochromic microcytic anemia, Dysphagia, Iron deficie... |
ORPHA:54028 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Narrow palate, Finger syndactyly, Ectopic anus, Esophageal atres... |
ORPHA:87 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Brachydactyly, Cryptorchidism, Bilateral single transverse palmar creases |
ORPHA:2083 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femo... |
OMIM:618019 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:606367 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Cleft soft palate, Brachydactyly, Unicoronal synostosis, Bicoronal synostosi... |
OMIM:604757 |
| Barrett Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Jacobsen Syndrome |
|
Flexion contracture, Macular hypoplasia, Annular pancreas, Pyloric stenosis, Clinodactyly of the ... |
OMIM:147791 |
| Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Brachydactyly, Abnormality of mesentery morphology, Cryptorchidis... |
ORPHA:2075 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Mesoaxial polydactyly, Bilateral... |
ORPHA:2754 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Multiple joint contractures, Short digit, Clinodactyly of the 5th finger, J... |
OMIM:618143 |
| Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Narrow palate, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th fin... |
ORPHA:794 |
| Distal Monosomy 10Q |
|
Tapered finger, High palate, Craniosynostosis, Hip dysplasia, Clinodactyly, Hip dislocation, Clin... |
ORPHA:96148 |
| Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Irregular epiphyses, Joint laxity, Broad thumb, Brachydactyly, Metaphyseal widening |
OMIM:612813 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Dislocated radial head, Radial deviation of finger, Absent uvula, Short palm, Verte... |
OMIM:268310 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Brachydactyly, Metaphyseal chondrodysplasia, Cryptorchidism, Abn... |
ORPHA:166035 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism, Bil... |
ORPHA:1786 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Gastroesophageal reflux, Anemia, Intestinal perforation, Primary ... |
ORPHA:85450 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Brachydactyly, Protruding tongue, Cryptorchidism, Cleft palate, Drumstick terminal p... |
OMIM:612938 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Brachydactyly, Hypothyroidism, Broad thumb, Broad distal phalanx of finger |
OMIM:617763 |
| Achondroplasia |
|
Genu varum, Short femoral neck, Generalized joint laxity, Radial bowing, Ulnar bowing, Short femu... |
OMIM:100800 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Brachydactyly, Cubitus valgus, Clef... |
ORPHA:247768 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Bifid uvula, Abnormal distal phalanx morpholog... |
ORPHA:2636 |
| Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Pyloric stenosis, Abnormality of neutrophils, Lymphadenopathy, B... |
ORPHA:381 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Orofaciodigital Syndrome Vi |
|
Lobulated tongue, Preaxial hand polydactyly, High palate, Tongue nodules, Toe syndactyly, Preaxia... |
OMIM:277170 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Clinodactyly, Finger syndactyly, Brachydactyly |
ORPHA:313781 |
| Branchiooculofacial Syndrome |
|
Fusion of middle ear ossicles, Gastroesophageal reflux, Preaxial hand polydactyly, Ectopic thymus... |
OMIM:113620 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Absent uvula, Sandal g... |
OMIM:618529 |
| Fountain Syndrome |
|
Large hands, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, Craniofacial h... |
ORPHA:3219 |
| Nephroblastoma |
|
Lymphadenopathy, Aniridia, Neoplasm of the liver |
ORPHA:654 |
| Jung Syndrome |
|
Hypothyroidism, Tracheal stenosis |
ORPHA:2321 |
| Distal Trisomy 5Q |
|
Absent thumb, Aplasia/Hypoplasia of the gallbladder, Hypoplasia of the radius, Hypoplasia of the ... |
ORPHA:96097 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Anemia, Cirrhosis, Gastroesophageal reflux, High palate, Joint laxity, Pancytop... |
OMIM:613658 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Osteoporosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Prol... |
OMIM:257200 |
| Non-Distal Monosomy 10Q |
|
Brachydactyly, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse p... |
ORPHA:1581 |
| Orthostatic Hypotension 1 |
|
High palate, Joint hypermobility, Reduced circulating prolactin concentration, Brachydactyly |
OMIM:223360 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Malabsorption, Steatorrhea, Brachydactyly, Short palm |
ORPHA:3217 |
| Macs Syndrome |
|
High palate, Joint laxity, Joint hypermobility, Brachydactyly, Single transverse palmar crease, H... |
OMIM:613075 |
| Jacobsen Syndrome |
|
Short toe, Finger syndactyly, Abnormality of the anus, Ectopic anus, Toe syndactyly, Annular panc... |
ORPHA:2308 |
| Classic Homocystinuria |
|
Genu valgum, High palate, Recurrent fractures, Hepatomegaly, Arachnodactyly, Esophageal varix, Ga... |
ORPHA:394 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Clinodacty... |
ORPHA:2710 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Mitten deformity, Anemia, Esophageal stricture, Palmoplantar blistering, Gastrointestinal inflamm... |
ORPHA:79409 |
| Felty Syndrome |
|
Anemia, Arthritis, Synovitis, Limitation of joint mobility, Osteolysis, Lymphadenopathy, Bone mar... |
ORPHA:47612 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft palate, Adrenal gland agenesis |
OMIM:611812 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, High palate, Clinodactyly of the 5th finger, Single transvers... |
OMIM:617061 |
| Down Syndrome |
|
Hypoplastic iliac wing, Hypothyroidism, Short middle phalanx of the 5th finger, Acute megakaryocy... |
OMIM:190685 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the liver, Finger syndactyly, Small hand, Finger ... |
ORPHA:2911 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Hip dysplasia, Optic nerve hypoplasia, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:618381 |
| Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Small hand, Esophageal atresia, Bifid uvula |
OMIM:618779 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Hip dislocation, Clinoda... |
ORPHA:1005 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Villous atrophy, Malabsorption, Refractory sideroblastic anemia, Sider... |
OMIM:557000 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short foot, Small hand, Clinodactyly of the 5th finger, Tracheal stenosis, Na... |
OMIM:300712 |
| Sponastrime Dysplasia |
|
Hip subluxation, Hypothyroidism, Precocious puberty, Flat capital femoral epiphysis, Hip dislocat... |
ORPHA:93357 |
| Alg8-Cdg |
|
Anemia, Abnormality of the gastrointestinal tract, Camptodactyly, Macroglossia, Brachydactyly, Th... |
ORPHA:79325 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Joint hyperflexibility, Limitation of joint mobility, Brachydactyly |
ORPHA:93274 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Gastroesophageal reflux, Short 5th finger, Limited elbow movement, Small hand, High palate, Toe s... |
OMIM:610759 |
| Castleman Disease |
|
Anemia, Abnormality of the gastrointestinal tract, Jaundice, Generalized lymphadenopathy, Myelofi... |
ORPHA:160 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Cleft palate, Brachydactyly |
OMIM:614261 |
| Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Narrow palate, Esophageal atresia, Narrow... |
ORPHA:3380 |
| Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Tracheobronchomalacia, Macroglossia, Brachydactyly, Single transverse pa... |
OMIM:610253 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Vertebral fusion, Short long bone, Short f... |
OMIM:139210 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Vertebral fusion, Hamartomatous stomach polyps, Short 4th metacarpal, D... |
OMIM:109400 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
| Trisomy 20P |
|
Camptodactyly of finger, Macroorchidism, Preaxial hand polydactyly, Finger syndactyly, Ectopic an... |
ORPHA:261318 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
High palate, Clinodactyly, Camptodactyly, Macroglossia, Hepatosplenomegaly, Brachydactyly, Talipe... |
ORPHA:397709 |
| Craniofrontonasal Syndrome |
|
Toe syndactyly, Coronal craniosynostosis, Unilateral breast hypoplasia, Clinodactyly of the 5th f... |
OMIM:304110 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Lymphadenopathy, Glossitis, Ovarian neoplasm |
ORPHA:2221 |
| Lysosomal Acid Lipase Deficiency |
|
Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Hypersplenism, Jaundice, Steatorrhea,... |
ORPHA:275761 |
| Cinca Syndrome |
|
Anemia, Arthritis, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Gastroesophageal reflux, Epiphyseal stippling of toe phalanges, Stippling of the epiphyses of the... |
ORPHA:79345 |
| Larsen Syndrome |
|
Vertebral fusion, Accessory carpal bones, Spatulate thumbs, Short metacarpal, Hip dislocation, Tr... |
OMIM:150250 |
| Geleophysic Dysplasia 3 |
|
Limited elbow movement, Tracheal stenosis, Epiphyseal dysplasia, Limited wrist movement, Hepatome... |
OMIM:617809 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, Gastroesophageal reflux, Osteomyelitis, T lymphocy... |
ORPHA:443811 |
| Coffin-Lowry Syndrome |
|
Tapered finger, Narrow palate, Short metacarpal, High palate, Craniofacial hyperostosis, Broad fi... |
ORPHA:192 |
| Cyclic Neutropenia |
|
Enterocolitis, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadeno... |
ORPHA:2686 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Cone-shaped epip... |
ORPHA:502 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph... |
ORPHA:98849 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
| Phace Syndrome |
|
Hypothyroidism, Lens coloboma, Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid |
ORPHA:42775 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Hypochromic microcytic anemia, Diabetes mellitus, Refractory anemia,... |
ORPHA:48818 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Anemia, Flexion contracture, Volvulus, Aganglionic megacolon, Clinodacty... |
ORPHA:847 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Clinodactyly of the 5th finger, Brachydactyly, Short distal phalanx of finger, Cranio... |
ORPHA:2163 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Limitation of joint mobility, Lymphadenopathy, Intestinal obstruction, Hepatomegaly, G... |
ORPHA:343 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density, Macroglossia, Brachydacty... |
ORPHA:1798 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... |
ORPHA:277 |
| Carney Triad |
|
Anemia, Paraganglioma, Pheochromocytoma, Lymphadenopathy, Gastrointestinal hemorrhage, Mediastina... |
ORPHA:139411 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... |
OMIM:143095 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Epiphyseal stippling, Tracheal stenosis, Abnormal pelvic girdle bone morphology, Tarsal stippling... |
OMIM:302960 |
| Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Anophthalmia, Joint contracture of the hand, High, narrow palate... |
OMIM:309800 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Arthritis, Osteolysis, Lymphadenopathy, Ga... |
ORPHA:809 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Aplastic anemi... |
OMIM:615122 |
| Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Radial deviation of finger, Flattened epiphysis, Hepato... |
OMIM:218330 |
| Senior-Boichis Syndrome |
|
Hepatic fibrosis, Anemia, Cirrhosis, Malformation of the hepatic ductal plate, Hepatosplenomegaly... |
ORPHA:84081 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Tracheobronchomalacia, Short long bone, Joint hypermobility, Bicoronal synostosis, Brachydactyly,... |
OMIM:619184 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver |
ORPHA:69077 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Hypoplasia of the radius, Syndactyly, Brachydactyly, Postaxial polydactyly |
OMIM:617895 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Gastroesophageal reflux, Precocious puberty, Decreased response to growth hormone stimulation tes... |
ORPHA:96182 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Palmoplantar keratoderma, Multinodular goiter |
OMIM:618373 |
| Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellul... |
ORPHA:699 |
| Carney Complex |
|
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Hepatocellular carcinoma, Foll... |
ORPHA:1359 |
| Hajdu-Cheney Syndrome |
|
Short toe, Recurrent fractures, Coarse metaphyseal trabecularization, Intestinal malrotation, Par... |
ORPHA:955 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, 2-3 toe syndactyly, Anemia, Short 5th finger, Bulbous tips of toes, Hyperexte... |
ORPHA:163979 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Radio-Tartaglia Syndrome |
|
Gastroesophageal reflux, Precocious puberty, Tapered finger, High palate, Brachydactyly, Dysphagi... |
OMIM:619312 |
| Chitayat Syndrome |
|
Tracheomalacia, Hallux valgus, Brachydactyly |
OMIM:617180 |
| Short Syndrome |
|
Hypoplasia of the iris, Diabetes mellitus, Joint hyperflexibility, Brachydactyly, Short palm |
ORPHA:3163 |
| Doors Syndrome |
|
Triphalangeal thumb, Sagittal craniosynostosis, Gastroesophageal reflux, Short 5th finger, High p... |
ORPHA:79500 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Sandal gap, Brachydactyly |
ORPHA:2180 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Fused cervical vertebrae, Submucous cleft hard palate, Tracheoesophageal fist... |
OMIM:619227 |
| Myhre Syndrome |
|
Precocious puberty, Hypogonadism, Large iliac wing, Bifid uvula, Craniofacial hyperostosis, Submu... |
ORPHA:2588 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Anorectal anomaly, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyl... |
ORPHA:233 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Clinodactyly, Broad hallux, Sandal gap, Microphthalmia, Brachydactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, L... |
ORPHA:79078 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:612783 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic iliac wing, Increased susceptibility to fractures, Aplastic clavicle, Coxa vara, Shor... |
OMIM:119600 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Postaxial foot polydactyly, Clubbing, Brachydactyly,... |
OMIM:619143 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
| Coffin-Siris Syndrome 7 |
|
Sagittal craniosynostosis, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:618027 |
| Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Esophageal varix, Ty... |
ORPHA:88673 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polydactyly, Hepatic fibrosis, Lobulated tongue, Bifid tongue, High palate, Ton... |
OMIM:311200 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Abnormal intestine morphology, Gastritis, Colitis, Splenomegaly, Ileus, Osteomyel... |
ORPHA:37042 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Palmoplantar hyperkeratosis, Esophageal stricture, Abnormality of the elbow |
ORPHA:158673 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Broad phalanges of the hand, Narrow palate, Broad metatarsal, Joint stiffness, ... |
OMIM:277600 |
| Acrocallosal Syndrome |
|
Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Finger syndactyly, ... |
OMIM:200990 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Camptodactyly, Cryptorchidism, Brachydactyly, Cleft palate, Finger clinodactyly, ... |
OMIM:601353 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas,... |
ORPHA:93111 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Esophageal stricture, Dysphagia |
OMIM:616029 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Microphthalmia |
OMIM:300952 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Clinodactyly of the 5th finger, Elbow dislocation, Brachydactyly, Postaxial han... |
ORPHA:2916 |
| H Syndrome |
|
Hallux valgus, Recurrent fractures, Hypogonadism, Decreased testicular size, Malabsorption, Campt... |
ORPHA:168569 |
| Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Broad phalanges of the hand, Narrow palate, High palate, Short metacarpal, Elbo... |
OMIM:608328 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Anemia, Biliary cirrhosis, Abnormality of adrenal morphology, Liver abscess, Ab... |
ORPHA:284 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Intestinal polyposis, Cholecystitis, Gastrointestinal hemorrhage, Esophageal varix, Po... |
ORPHA:774 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Joint stiffness, Brachydactyly |
ORPHA:2107 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis |
ORPHA:85414 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Short pr... |
ORPHA:261323 |
| Klatskin Tumor |
|
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
| Pycnodysostosis |
|
Aplastic clavicle, Narrow palate, Increased bone mineral density, Narrow iliac wing, Osteolytic d... |
OMIM:265800 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Metaphyseal irregularity, Metaphyseal sclerosis, T lymphocytopenia, Neutropenia, ... |
OMIM:607944 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal testis morphology, Abnormality of the anus, Microphthalmia, Abnormal rectu... |
ORPHA:2556 |
| Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ... |
ORPHA:83471 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Anemia, Flexion contracture, Arthritis, Lymphopenia, Lymphadenopathy, Hepatomega... |
OMIM:617591 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Broad hallux, Syndactyly, Single transverse palmar crease,... |
OMIM:614800 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Esophageal atresia, Proximal placement of thumb, Slender finger, Cleft... |
OMIM:610536 |
| Farber Disease |
|
Short toe, Anemia, Hepatic fibrosis, Flexion contracture, Abnormality of the elbow, Arthritis, Sh... |
ORPHA:333 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Finger syndactyly, Ectopic anus, Toe syndactyly, Ankyloglo... |
ORPHA:1507 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Gastritis, Bone marr... |
ORPHA:3261 |
| Chops Syndrome |
|
Gastroesophageal reflux, Splenomegaly, Brachydactyly, Cryptorchidism, Tracheomalacia, High, narro... |
OMIM:616368 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Decreased response to growth hormone stimulation test, Short ... |
ORPHA:280651 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Cirrhosis, Sagittal craniosynostosis, Joint laxity, Sandal gap, Brachydactyly... |
OMIM:614099 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Jaundice, Polycythemia, Micronodular cirrhosis, Hepatomegaly, Esophagea... |
ORPHA:309854 |
| Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Bifid tongue, Hip dislocation, Postaxial hand polydactyly, Cleft palate, Abno... |
ORPHA:818 |
| Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Cleft palate, Bro... |
ORPHA:2347 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Neonatal insulin-de... |
OMIM:260370 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Coxa vara, Capitate-hamate fusion, Short metacarpal, Block vertebrae, Clinodact... |
OMIM:272460 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Clinodactyly, Camptodactyly, Syndactyly, Anteriorly placed... |
OMIM:616894 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Arthrogryposis multiplex congenita, Esophageal atresia |
OMIM:226730 |
| Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Extrahepatic cholestasis, Increased hematocrit, Increased circulating ACTH le... |
ORPHA:100076 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Bifid uvula, Hepatosplenomegaly, Hepatomegaly, Postaxial hand polydactyl... |
OMIM:266920 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification |
ORPHA:677 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Anemia, Flexion contracture, Short 4th metacarpal, Finger syndactyly, Sh... |
ORPHA:2908 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Hypoplasia of the iris, Short metacarpal, Brachydactyly |
OMIM:600092 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... |
ORPHA:96253 |
| Graft Versus Host Disease |
|
Limited elbow movement, Stiff interphalangeal joints, Arthritis, Jaundice, Gastrointestinal infla... |
ORPHA:39812 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Hepatic fibrosis, Hallux valgus, Pancytopenia, Hepatosplenomegaly, Delayed puberty, Throm... |
ORPHA:2072 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Juvenile rheumatoid arthritis, Hepatitis, Lymphadenop... |
ORPHA:158061 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Gastroesophageal reflux, Short digit, Supernumerary nipple, Early ossification of capital femoral... |
ORPHA:397715 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Broad thumb, Joint laxity, Brachydactyly |
ORPHA:171866 |
| Proteus Syndrome |
|
Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Upper limb asymmetry... |
ORPHA:744 |
| Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... |
OMIM:620107 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Hypothyroidism, Abnormality of the liver, Abnor... |
ORPHA:1606 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Flexion contracture, Optic nerve hypoplasia, Diabetes mellitus, Pa... |
OMIM:609069 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Palmoplantar keratoderma, Splenomegaly, Abnormal lymphocyte morpho... |
ORPHA:3162 |
| American Trypanosomiasis |
|
Achalasia, Aganglionic megacolon, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal a... |
ORPHA:424016 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Jaundice, Pancytopenia, Hepatosple... |
ORPHA:79124 |
| Noonan Syndrome |
|
High palate, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormality of the lymphatic ... |
ORPHA:648 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hep... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hep... |
OMIM:233710 |
| Mgat2-Cdg |
|
Gastroesophageal reflux, Abnormality of the endocrine system, Impaired lymphocyte transformation ... |
ORPHA:79329 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, High palate, Hip dysplasia, Annular pancreas, Clinodactyly of the 5th fi... |
OMIM:616975 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Postaxial foot polydactyly, Bile duct pr... |
OMIM:267010 |
| Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Myeloid leukemia, Hypoplastic pubic bone, High palate, Short 1st metacarp... |
ORPHA:798 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Gastroesophageal reflux, Abnormal finger morphology, Joint laxit... |
ORPHA:404448 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Supernumerary nipple, Talipes equinovarus, Narrow palate, Cryptorchidism, Hypoplas... |
OMIM:614976 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Biliary cirrhosis, High palate, Polysplenia, Clinodactyly, Joint laxity, Portal fibr... |
OMIM:613610 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Cleft soft palate, Clinodactyly of the 5th finger, Tracheal stenosis |
OMIM:620183 |
| Grange Syndrome |
|
Increased susceptibility to fractures, Recurrent fractures, Syndactyly, Brachydactyly, Finger cli... |
OMIM:602531 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Adrenal insufficiency, Achalasia, Dysphagia |
OMIM:615510 |
| Cono-Spondylar Dysplasia |
|
Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal ... |
ORPHA:420794 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Aplasia of the pectoralis major muscle, Ulnar devi... |
ORPHA:1358 |
| Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Small hand,... |
ORPHA:177907 |
| White-Sutton Syndrome |
|
Gastroesophageal reflux, High palate, Bifid uvula, Joint laxity, Optic nerve hypoplasia, Broad th... |
OMIM:616364 |
| Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hep... |
OMIM:233690 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Gastroesophageal reflux, Tapered finger, Small hand, Short foot, Rectovestibular fistula, High pa... |
ORPHA:280633 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hypoplasia of the iris, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Spleno... |
ORPHA:169090 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Short metacarpal, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone mar... |
ORPHA:508542 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Large intestinal polyposis, Adrenocortical carcinoma, Polycythemia, Macroglossia,... |
ORPHA:116 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Abnormal diaphysis morphology, Brachydactyly, Abnormal metaphysis morpho... |
ORPHA:2021 |
| Boutonneuse Fever |
|
Leukopenia, Abnormal skin morphology of the palm, Lymphadenopathy, Cervical lymphadenopathy, Thro... |
ORPHA:83313 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Leukemia |
ORPHA:2526 |
| Immunodeficiency 23 |
|
Esophageal stricture, High palate, Hemolytic anemia, Lymphopenia, Joint hypermobility, Eosinophil... |
OMIM:615816 |
| Arima Syndrome |
|
Anemia, Hepatic fibrosis, Cirrhosis, Esophageal varix, Postaxial foot polydactyly, Hepatic steato... |
OMIM:243910 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Metaphyseal chondrodysplasia, Brachydactyly, Short distal phalanx of finger, Me... |
OMIM:250410 |
| Kabuki Syndrome 2 |
|
Short 5th finger, High palate, Hip dislocation, Joint laxity, Brachydactyly, Cleft palate, Promin... |
OMIM:300867 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Congenital shortened small intestine, Esophageal atresia, Pulmonary lymphangiectasia, A... |
OMIM:265380 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Short long bone, Small pituitary gland, Bowed humerus, Brachydactyly, Triden... |
OMIM:619479 |
| Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, High, narrow palate, Single transverse ... |
OMIM:601358 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Colitis, Hepatomegaly, Cholestatic liver dis... |
ORPHA:540 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Clinodactyly of the 5th finger, Short distal p... |
ORPHA:1292 |
| Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Tracheal stenosis |
ORPHA:3348 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Flexion contracture, Tapered finger, Cleft soft palate, Elbow flexion contractur... |
OMIM:619503 |
| Trisomy 9P |
|
Brachydactyly, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases |
ORPHA:236 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Small hand, Short middle phalanx of the 5th finger, Duplication of the distal phala... |
OMIM:180700 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Inflammation of the large intestine, Lymphadenopathy, Ch... |
OMIM:615895 |
| Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
| Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Bifid uvula, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Hypog... |
OMIM:301030 |
| Raine Syndrome |
|
High palate, Increased bone mineral density, Long hallux, Protruding tongue, Subperiosteal bone f... |
OMIM:259775 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Macular hypoplasia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hem... |
OMIM:214500 |
| Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, High palate, Esophageal atresia, Clinodactyly, Brachydactyly |
ORPHA:2209 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Hallux valgus, Partial duplication of the distal phalanx of the 3rd finger, Toe sy... |
OMIM:101400 |
| Familial Mediterranean Fever |
|
Splenomegaly, Malabsorption, Arthritis, Lymphadenopathy, Intestinal obstruction, Oral leukoplakia... |
ORPHA:342 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, ... |
OMIM:210710 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Biliary cirrhosis, Hepatomegaly, Splenomegaly, Congenital he... |
OMIM:619534 |
| Genitopatellar Syndrome |
|
Short phalanx of finger, Knee flexion contracture, Hypothyroidism, Hip contracture, Patellar apla... |
OMIM:606170 |
| Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Fixed elbow flexion, Limitation of joint mobility, Bilateral wrist ... |
ORPHA:97297 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Cirrhosis, Esophageal stricture, Decreased testicular... |
OMIM:305000 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Submucous cleft hard palate, Tapered finger, Brachydactyly |
OMIM:619680 |
| Gabriele-De Vries Syndrome |
|
Hypothyroidism, Distal arthrogryposis, Decreased response to growth hormone stimulation test, Hal... |
ORPHA:506358 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia |
OMIM:601612 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, High palate, Unilateral brachydactyly, Sup... |
ORPHA:1521 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... |
OMIM:308230 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Brachydactyly, Abnormal femoral epiphysis morphology |
ORPHA:3218 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Cirrhosis, Microvesicular hepatic steatosis, High palate, Polysplenia, Macronodular cirrh... |
OMIM:619418 |
| Corneodermatoosseous Syndrome |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Abnormality of the hand, Brachydactyl... |
ORPHA:3194 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Mitten deformity, Gastroesophageal reflux, Anemia, Foot joint contracture, Flexion contracture, E... |
ORPHA:79408 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Tracheal stenosis, Cleft palate, Craniosynostosis |
ORPHA:1790 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Short 5th metacarpal, Short 1st metacarpal, ... |
OMIM:136140 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Biliary trac... |
OMIM:268300 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Mi... |
ORPHA:364577 |
| Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Flexion contracture, Esophageal stricture, Esophageal ulceration, Arthri... |
ORPHA:99921 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Brachydactyly |
OMIM:619995 |
| Selective Igm Deficiency |
|
Lymphadenitis, Stomach cancer, Crohn's disease, Thyroid carcinoma, Rheumatoid arthritis, Neutrope... |
ORPHA:331235 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Preaxial hand polydactyly, Bifid tongue, Ectopic a... |
ORPHA:93271 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Extrahepatic cholestasis, Increased serum serotonin, Zollinger-Ellison syndro... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Extrahepatic cholestasis, Increased serum serotonin, Zollinger-Ellison syndro... |
ORPHA:100077 |
| Keutel Syndrome |
|
Tracheal atresia, Short distal phalanx of finger |
ORPHA:85202 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the gastrointestinal tract, Cl... |
ORPHA:1587 |
| Arboleda-Tham Syndrome |
|
Genu varum, Deviation of the hallux, Genu valgum, Upper limb amyotrophy, Gastroesophageal reflux,... |
OMIM:616268 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Absent fourth finger distal interphalangeal crease, High palate, Joint hypermobility, Brachydacty... |
OMIM:618050 |
| 15q26 overgrowth syndrome |
|
Camptodactyly of finger, Tapered finger, High palate, Abnormal finger morphology, Brachydactyly, ... |
DECIPHER:81 |
| Proboscis Lateralis |
|
Microphthalmia, High palate, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Anal atresia, Lymphopenia, Autoimmune thrombocytopeni... |
ORPHA:1572 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Distal Monosomy 9P |
|
Cleft palate, High, narrow palate, Brachydactyly |
ORPHA:1642 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, Tapered finger, Small hand, High palate, Clinodactyly, Camptodactyly, Overla... |
OMIM:309590 |
| Stevens-Johnson Syndrome |
|
Anemia, Esophageal stricture, Abnormality of neutrophils, Gastrointestinal hemorrhage, Dysphagia,... |
ORPHA:36426 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Abnormality of ... |
ORPHA:50918 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Lymphocytosis, Thyroiditis, Lymphadenopathy, Eosinophilia |
ORPHA:139402 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Recurrent fractures, Craniosynostosis, Lymphadenopathy, Hepatomegaly, Abnormal metaphysis... |
ORPHA:667 |
| Coccidioidomycosis |
|
Abnormal long bone morphology, Abnormality of the liver, Osteomyelitis, Arthritis, Peritonitis, A... |
ORPHA:228123 |
| Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Finger syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Joint hyp... |
ORPHA:1974 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Esophageal atresia, Hypoplasia of the radius, Radioulnar synostosis, Anal at... |
OMIM:192350 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Brachydactyly |
ORPHA:168577 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, B lymphocytopenia, O... |
OMIM:619381 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Short long bone, Aplasia of the epiglottis, Brachydactyly, Hepatomegaly, Short clav... |
OMIM:617088 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Gastroesophageal reflux, High palate, Small hand, Elbow flexion contract... |
OMIM:619777 |
| Waldenström Macroglobulinemia |
|
Leukemia, Malabsorption, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatome... |
ORPHA:33226 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Malabsorption, Pyloric stenosis, Pulmonary lymphangie... |
ORPHA:2136 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hep... |
OMIM:306400 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Gastroesophageal reflux, High palate, Short metacarpal, Pseudohypoparathyroidism, Short distal ph... |
OMIM:617157 |
| Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Radial deviation of finger, Contractu... |
OMIM:613406 |
| Radio-Renal Syndrome |
|
Abnormality of the elbow, Hypoplasia of the radius, Brachydactyly, Short palm, High, narrow palate |
ORPHA:3015 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Arthritis, Lymphadenopathy, Abnormal sacroiliac joint morphology, Leukocytosis, Orchitis, Intesti... |
ORPHA:32960 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Hypothyroidism, Decrea... |
ORPHA:444077 |
| You-Hoover-Fong Syndrome |
|
Cleft palate, Clinodactyly, Brachydactyly |
OMIM:616954 |
| Kindler Syndrome |
|
Esophageal stenosis, Palmoplantar hyperkeratosis, Oral leukoplakia, Dysphagia, Anal stenosis |
OMIM:173650 |
| Elsahy-Waters Syndrome |
|
High palate, Abnormality of the anus, Cutaneous finger syndactyly, Bilateral cryptorchidism, Bifi... |
OMIM:211380 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Lymphadenopathy, Macroglossia |
ORPHA:2483 |
| Lymphatic Filariasis |
|
Vaginal hydrocele, Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Hydrocele testis, Lymphade... |
ORPHA:2035 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Joint contracture of the hand, Eosinophilic infiltration of the esophagus, B... |
OMIM:610168 |
| Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Clinodactyly of the 5th finger, Joint hypermobility, Broad hallux, Single transverse... |
OMIM:617062 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Tapered finger, Clinodactyly of the 5th finger, Supernumerary nipple, Cryptorchidism, Brachydacty... |
ORPHA:477993 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ... |
ORPHA:556955 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
| Barber-Say Syndrome |
|
High palate, Velopharyngeal insufficiency, Absent nipple, Clinodactyly of the 5th finger, Brachyd... |
OMIM:209885 |
| Multiple Myeloma |
|
Anemia, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Osteopenia, Pathol... |
ORPHA:29073 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Supernumerary nipple, Microphthalmia, Brachydactyly, Cleft palate, Talipes equino... |
OMIM:100300 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Microphthalmia, Brachydactyly, Cleft... |
ORPHA:306542 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mesoaxial foot polydactyly, High palate, Bifid uvula, Camptodactyly, Clinodactyly of the 5th fing... |
OMIM:612474 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... |
OMIM:600802 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Gastroesophageal reflux, Pseudoepiphyses, Decreased testicular siz... |
OMIM:157800 |
| Brucellosis |
|
Sacroiliac arthritis, Leukopenia, Anemia, Septic arthritis, Abnormality of the liver, Osteomyelit... |
ORPHA:1304 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Finger swelling, Flexion contracture, Elevated circulating thyroid-stimu... |
OMIM:256040 |
| Malt Lymphoma |
|
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland |
ORPHA:52417 |
| Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Bifid tongue, Ankyloglossia, Decreased... |
ORPHA:97360 |
| Meester-Loeys Syndrome |
|
Arachnodactyly, High palate, Bifid uvula, Camptodactyly, Joint hypermobility, Brachydactyly, Join... |
OMIM:300989 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Inflammation of the large intestine, Lymphadenopathy, Colonic eosinophilia, Cervic... |
OMIM:617718 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Arthritis, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Spleno... |
OMIM:260920 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
| Peters-Plus Syndrome |
|
Biliary tract abnormality, Square pelvis bone, Cleft palate, Short palm, Short toe, Abnormal pelv... |
OMIM:261540 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Hypothyroidism, Diabetes insipidus, Hemolytic... |
ORPHA:797 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Thyroiditis, Enlar... |
ORPHA:449563 |
| Floating-Harbor Syndrome |
|
Gastroesophageal reflux, Precocious puberty, Avascular necrosis of the capital femoral epiphysis,... |
ORPHA:2044 |
| Noonan Syndrome 1 |
|
High palate, Hypogonadism, Amegakaryocytic thrombocytopenia, Clinodactyly, Synovitis, Radial devi... |
OMIM:163950 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Gastroesophageal reflux, Hypothyroidism, Short 5th finger, High palate, ... |
OMIM:607872 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Pheochromocytoma, Hepatic hemangioma, P... |
OMIM:193300 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Short palm, Brachydactyly |
ORPHA:3339 |
| Congenital Tracheomalacia |
|
Gastroesophageal reflux, Tracheobronchomalacia, Esophageal atresia, Tracheoesophageal fistula, Tr... |
ORPHA:95430 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Gastroesophageal reflux, Brachydactyly, Single transverse palmar crease, Dysphagia, Short palm, P... |
ORPHA:466950 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Gastroesophageal reflux, Brachydactyly, Single transverse palmar crease, Gastrointestinal dysmoti... |
ORPHA:466943 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Anemia, Esophageal stricture, Abnormal fingertip morphology, Gastrointestinal i... |
ORPHA:79404 |
| Alström Syndrome |
|
Hepatosplenomegaly, Hepatic steatosis, Decreased circulating T4 concentration, Hepatomegaly, Sple... |
ORPHA:64 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Gastroesophageal reflux, Genu valgum, Tapered finger, High palate, Hypogonadism, Decreased testic... |
OMIM:309580 |
| Pulmonary Capillary Hemangiomatosis |
|
Lymphadenopathy, Clubbing of fingers, Mediastinal lymphadenopathy |
ORPHA:199241 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism |
ORPHA:1519 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Flexion contracture, Hallux valgus, Bifid uvula, Camptodactyly, Broad hallux, Dysphagia... |
ORPHA:261537 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Stiff neck, Hemoperitoneum, Adrenal insufficiency, Jaundice, Neutrophilia, Pancytopen... |
ORPHA:99827 |
| Peters Plus Syndrome |
|
Intestinal fistula, Short toe, Toe syndactyly, Anterior hypopituitarism, Clinodactyly of the 5th ... |
ORPHA:709 |
| Chikungunya |
|
Enthesitis, Arthritis, Stiff interphalangeal joints, Synovitis, Osteolysis, Lymphadenopathy, Peri... |
ORPHA:324625 |
| Mowat-Wilson Syndrome |
|
Asplenia, Flexion contracture, Tapered finger, Hallux valgus, Bifid uvula, Camptodactyly, Broad h... |
ORPHA:2152 |
| Craniofacial Microsomia |
|
Genu valgum, Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Microphthalmia,... |
OMIM:164210 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hyp... |
ORPHA:2255 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Progeroid Short Stature With Pigmented Nevi |
|
Diabetes mellitus, Delayed puberty, Esophageal ulceration |
OMIM:176690 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Hallux valgus, Bifid uvula, Camptodactyly, Broad hallux, Dysphagia... |
ORPHA:261552 |
| Ayme-Gripp Syndrome |
|
Brachydactyly, Camptodactyly, Tapered finger, Radioulnar synostosis |
OMIM:601088 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Tracheal stenosis |
OMIM:608710 |
| Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
| Blau Syndrome |
|
Camptodactyly of finger, Anemia, Abnormality of the liver, Synovitis, Limitation of joint mobilit... |
ORPHA:90340 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormality of the anterior pituitary, Retroperitoneal fibrosis, Sclerosing cholan... |
ORPHA:449395 |
| Mogs-Cdg |
|
Hypothyroidism, High palate, Hydrocele testis, Hepatosplenomegaly, Hepatomegaly, Overlapping fing... |
ORPHA:79330 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, High palate, Recurrent fractures, Hepatomegaly, Overlapping fingers |
OMIM:606056 |
