| 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 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
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 |
|
Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Recurrent fractures, Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnorma... |
ORPHA:319487 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papil... |
ORPHA:97290 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99977 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Brachydactyly, Type A2, With Microcephaly |
|
Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop... |
OMIM:211369 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... |
ORPHA:3314 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thumb |
ORPHA:2091 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Esophageal carcinoma, Lymphadenopathy, Gastroesophageal reflux, Clinodactyly o... |
ORPHA:99976 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
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, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... |
ORPHA:142 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Joint stiffness, Symphalangism affecting the phalanges of the hand, Cone-shaped ep... |
ORPHA:3237 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S... |
ORPHA:93323 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:615524 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif... |
ORPHA:2762 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Pho... |
ORPHA:2538 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Tetrasomy X |
|
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... |
ORPHA:9 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... |
ORPHA:163634 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... |
ORPHA:95716 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Ascher Syndrome |
|
Deviation of finger, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
| Bangstad Syndrome |
|
Pancytopenia, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonadal insuff... |
OMIM:210740 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl... |
ORPHA:2470 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter |
ORPHA:705 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal... |
ORPHA:562 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Abnormal liver parenchyma morphology, Ph... |
ORPHA:1332 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:226313 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Abnormality of the spleen, Esophageal atresia, Deviation of the 2n... |
ORPHA:1305 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p... |
ORPHA:65759 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Delayed proximal femoral epiphyseal ossification, Elevated cir... |
ORPHA:90673 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Portal hypertension, Splenomegaly, Esophageal varix, Foot oligodactyly, Hepatic fibro... |
OMIM:616589 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... |
ORPHA:139471 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
| Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, High... |
ORPHA:1927 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre... |
ORPHA:75233 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Greenberg Dysplasia |
|
Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pe... |
ORPHA:1426 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft palate, Polydactyly, Talipes equinovarus, Microphthalmia |
OMIM:613885 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
| Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hep... |
OMIM:617341 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Pancreatic cys... |
ORPHA:1318 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,... |
ORPHA:93307 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac... |
OMIM:618392 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Microphthalmia, Split hand, Dysphagia, ... |
OMIM:157900 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| 20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata... |
ORPHA:95715 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia |
ORPHA:77298 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase... |
OMIM:219080 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly |
OMIM:615982 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Furrowed tongue, ... |
OMIM:615108 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Type II diabetes mellitus, Anal atresia... |
ORPHA:1436 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El... |
ORPHA:79445 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased circulating cortisol ... |
OMIM:615830 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Brachydactyly |
OMIM:612463 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
| Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, ... |
OMIM:610125 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormality of the gastrointestinal tract, Camptodactyly of finger, Micromelia, Osteo... |
ORPHA:2176 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Furrowed tongue, ... |
OMIM:615109 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Coronal craniosynos... |
OMIM:614078 |
| Trisomy 13 |
|
Anophthalmia, Cryptorchidism, Postaxial hand polydactyly, High, narrow palate, Cleft palate, Apla... |
ORPHA:3378 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
| Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Eosinophilia... |
ORPHA:353298 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Portal hypertension, Bone-marrow foam cells, Hypersplenism, ... |
OMIM:278000 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
| Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe... |
ORPHA:371428 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly |
ORPHA:2150 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, Short... |
ORPHA:3409 |
| Acromicric Dysplasia |
|
Short metacarpal, Joint stiffness, Small hand, Abnormal femur morphology, Abnormal epiphysis morp... |
ORPHA:969 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Hepatomegaly, Single transverse palmar crease, Eosinophilia, S... |
OMIM:616651 |
| Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous ... |
ORPHA:363417 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Short palm, Clinodacty... |
ORPHA:3210 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly |
ORPHA:40 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Cryptorchidi... |
OMIM:600325 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic spleen, Dec... |
OMIM:602361 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Preaxial hand polydactyly,... |
ORPHA:261344 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Hepatosplenomegaly, Short long bone, Brachydactyly |
ORPHA:221054 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... |
ORPHA:733 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tracheal ste... |
ORPHA:93941 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft palate |
OMIM:619452 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Subcutaneo... |
OMIM:103580 |
| Perlman Syndrome |
|
Hepatomegaly, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnormal pancreas morphology... |
ORPHA:2849 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Aganglionic megacolon, Type D brachydactyly |
OMIM:306980 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Palmoplantar hyperkeratosis, Furrowed tongue, ... |
OMIM:158350 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Diabetes insipidus, Anterior pituitary hy... |
ORPHA:264200 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital he... |
ORPHA:974 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Craniosynostosis, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxic... |
ORPHA:525731 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Perianal abscess, Cryptorchidism, Small hand, Broad finger, Clinodactyly, Short phalanx of finger... |
OMIM:614684 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Brach... |
OMIM:603233 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M... |
ORPHA:3206 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th finger, Microphthalmia, Br... |
ORPHA:1777 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... |
ORPHA:2496 |
| 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, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, High palate, Anterior hypopituitarism, Anal atresia, Bra... |
ORPHA:2863 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar sy... |
ORPHA:921 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Flexion contracture, Coxa vara... |
OMIM:617396 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Brachydactyly |
OMIM:165800 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Congenital hepatic... |
ORPHA:2377 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia... |
ORPHA:564 |
| Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypot... |
OMIM:602152 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Abnormally large globe, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased cal... |
OMIM:614592 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ... |
OMIM:184260 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... |
OMIM:146000 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Esophageal atresia, Hypoplasia of the radius, Hip dislocation, Trac... |
ORPHA:3412 |
| Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Shortening of all distal phalanges of the fingers, Incre... |
ORPHA:79320 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Elbow con... |
OMIM:618162 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... |
OMIM:608940 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Delayed prox... |
ORPHA:90674 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Foot joint contractu... |
ORPHA:456312 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Cryptorchidism, Flexion contracture, Small hand, Narrow palm,... |
OMIM:615547 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Sandal gap, Cryptorchidism, High, narrow palate, Abnormal finger morphology, Clubbing... |
ORPHA:3051 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... |
OMIM:184250 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Cryptorchidism, Short metatarsal, Advanced ossification of c... |
OMIM:614613 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger morphology, Abnormal... |
ORPHA:2900 |
| Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
| Opsismodysplasia |
|
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Splenomegaly, Squar... |
ORPHA:2746 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, High, narrow palate, Small hand, Short foot, Clinodac... |
ORPHA:444002 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, G... |
OMIM:201000 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lym... |
ORPHA:97289 |
| Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Small hand, Short foot, High palate, Gastroe... |
OMIM:300590 |
| Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Intestinal malrotation, Cryptorchidism, Sho... |
ORPHA:401935 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt... |
OMIM:136760 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Premature pubarche, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Brachydactyly |
OMIM:619692 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
| Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Arthritis |
ORPHA:42642 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Radial club hand, Cryptor... |
OMIM:617053 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Dysphagia, Abnorma... |
OMIM:226600 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia, High palate |
ORPHA:66625 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Submucous cleft ha... |
ORPHA:3047 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, High... |
OMIM:619451 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Brachydactyly |
OMIM:616028 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... |
OMIM:612462 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft palate, Clinodactyly of the 5th finger, Abnormal ve... |
OMIM:244600 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis, Arthrogryposis multiplex co... |
OMIM:232500 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Polycystic ovaries, ... |
ORPHA:3085 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, ... |
OMIM:162300 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Male hypogonadism |
ORPHA:90322 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Decreased response to growth hormone stimulation test, Proximal placement of thumb,... |
ORPHA:94065 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Tracheal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal... |
ORPHA:93352 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Greenberg Dysplasia |
|
Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli... |
OMIM:215140 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Esophageal atresia, Hypothyroidism, Tracheoesophageal fistula |
ORPHA:1923 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,... |
ORPHA:397596 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Adrenal hypoplasia, High palate, Clinodactyly of t... |
OMIM:607932 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Micro... |
ORPHA:899 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Cleft palate... |
OMIM:605282 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Hydrocele testis, Slender long bone, Increased serum testosterone level, Congenital... |
ORPHA:96181 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Short foot, Hip... |
OMIM:601427 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph... |
ORPHA:59315 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Talipes equinovarus, Camptodactyly, Clinod... |
OMIM:616354 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ... |
OMIM:258860 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Hypogonadism, Talipes equinovarus, High p... |
ORPHA:3306 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal testis morphology... |
ORPHA:317 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Alopecia-Intellectual Disability Syndrome |
|
Split hand, Flexion contracture, Hypergonadotropic hypogonadism, Brachydactyly |
ORPHA:2850 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Narrow palate, Brachydactyly |
OMIM:617169 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Portal hypertension, Jaundice, Esophageal varix, Cholestasis, Sclerosing cholangiti... |
OMIM:619662 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone c... |
OMIM:305400 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, Cryptorchidism, 2-3 toe syn... |
OMIM:618659 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... |
ORPHA:65288 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Postaxial polydactyly, Splenomegaly, Esophageal varix, Cholestasis, H... |
OMIM:614576 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Preaxial hand polydact... |
OMIM:227646 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Cryptorchidism, Small hand, Short foot, Macroglossia, Hypogonadism, Del... |
OMIM:300354 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly, Clubbing of fingers,... |
OMIM:618982 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... |
ORPHA:37748 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Epiphyseal stippling, Aplasia/Hypoplasia affecting the eye, Short distal phalanx of... |
ORPHA:1914 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pitu... |
OMIM:206900 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p... |
OMIM:250250 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... |
ORPHA:485405 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
| Satoyoshi Syndrome |
|
Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalanges of the han... |
OMIM:600705 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Joint stiffness, Brachydactyly |
OMIM:614819 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ... |
ORPHA:3157 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Cleft palate, Aplasia/Hypopla... |
ORPHA:1794 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypergonadotropic hypogonadism, Optic disc hypoplasia, Absent thumb, Esophageal ... |
OMIM:300514 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Diabetes... |
OMIM:616263 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of... |
OMIM:615630 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... |
OMIM:305600 |
| Atelosteogenesis Type Ii |
|
Micromelia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of... |
ORPHA:56304 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
| Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Abnormal pelvic girdle bone morphology, Ty... |
ORPHA:1133 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Fanconi Anemia, Complementation Group Q |
|
Absent thumb, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Bone marrow hypocellul... |
OMIM:615272 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymph... |
OMIM:209950 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Cryptorchidism, Precocious puberty, Short ... |
OMIM:620073 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, Esophage... |
OMIM:164280 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneous finger syndactyly, Ca... |
OMIM:148820 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Pulmonary lymphangiectasia, Increased carrying angle, Brachydactyly |
OMIM:247410 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Joint hyperflexibility, High palate, Macroorchidism, Bra... |
ORPHA:776 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Short metacarpal, Broad hallux, Cryptorchidism, Short toe, Short metatarsal, Upper ... |
ORPHA:439822 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contracture, Dysphagia, Abnormal... |
ORPHA:89842 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered finger... |
ORPHA:488642 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno... |
ORPHA:264580 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Lymphadenopathy |
OMIM:617772 |
| Noonan Syndrome 7 |
|
Deep palmar crease, Abnormal esophagus morphology, Dysphagia, Impaired oropharyngeal swallow resp... |
OMIM:613706 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Dysphagia, Short f... |
OMIM:275900 |
| Larsen Syndrome |
|
Finger syndactyly, Craniosynostosis, Cryptorchidism, Accessory carpal bones, Cleft palate, Joint ... |
ORPHA:503 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
| Holoprosencephaly |
|
Diabetes mellitus, Diabetes insipidus, Anophthalmia, Median cleft lip and palate, Cryptorchidism,... |
ORPHA:2162 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o... |
OMIM:236680 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Short toe, Abnormality of the elbow, Osteoarthritis, Delayed... |
ORPHA:633 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Craniosynostosis, Postaxial han... |
OMIM:200995 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Split hand, Cleft palate, Brachydactyly |
ORPHA:2145 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Microphthalmia, 3-4 finger synd... |
OMIM:615877 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Recurrent fractur... |
ORPHA:1775 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Ulnar deviation of fi... |
ORPHA:1101 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Cowden Syndrome |
|
Brachydactyly, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyr... |
ORPHA:201 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Neutropenia, Anemi... |
OMIM:617475 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Prot... |
ORPHA:870 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... |
OMIM:608184 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Osteolysis, Abnormal diaphysis morpho... |
ORPHA:1657 |
| Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ... |
OMIM:607095 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Reduced bone mineral densit... |
ORPHA:1451 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Inflammation of the large intestine, Lymp... |
ORPHA:26790 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, High pala... |
ORPHA:3103 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Marinesco-Sjögren Syndrome |
|
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
| Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... |
ORPHA:90291 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ... |
ORPHA:175 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Eosinophilia, Coxa ... |
OMIM:617425 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal... |
OMIM:613091 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thyroiditis, Lymphadenopathy, ... |
ORPHA:39041 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... |
OMIM:304790 |
| Aspergillosis |
|
Osteomyelitis, Eosinophilia, Hepatitis, Abnormal long bone morphology, Neutropenia, Abnormal esop... |
ORPHA:1163 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to... |
ORPHA:1327 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Supernumerary ... |
OMIM:605039 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Intestinal mal... |
OMIM:617866 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Osteopenia, Multiple joint contractures, Hypergonadotropic hypogonadism... |
ORPHA:2959 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Tapered finger, Long fingers, Calcaneovalgus deformity, Congenital hypothyroidism... |
ORPHA:521445 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia |
ORPHA:858 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Glossoptosis, High palate, Gastroesophageal reflux, Camptodactyl... |
OMIM:613604 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomeg... |
ORPHA:313855 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short fo... |
OMIM:614376 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Tracheo... |
ORPHA:1001 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Limb undergrowth, Coar... |
OMIM:618961 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyro... |
ORPHA:464288 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Postaxial hand polydactyly, Esophageal varix, He... |
OMIM:216360 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Panc... |
OMIM:610199 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
| Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L... |
ORPHA:198 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Cryptorchidism, Abnormal bone ossification, Brachydactyly |
ORPHA:2645 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Osteoporosis, Brachydactyly |
OMIM:234250 |
| Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Osteoporosis, Palmoplantar hyperkeratosis, L... |
OMIM:613989 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Cryptorchidism, Neonatal epiphyseal stippling, Short metatarsal,... |
OMIM:101800 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Bifid tongu... |
OMIM:252100 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Abn... |
ORPHA:138 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Rhizo... |
ORPHA:763 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acrom... |
ORPHA:163654 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... |
ORPHA:2357 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Preaxial... |
OMIM:617925 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Decreased proportion o... |
OMIM:618048 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Jo... |
OMIM:616007 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t... |
OMIM:618914 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Brachydactyly, Hypothyroidism, Short distal phalanx of finger |
ORPHA:1563 |
| Non-Syndromic Posterior Hypospadias |
|
Abnormality of the endocrine system, Cryptorchidism, Esophageal atresia, Cleft palate, Anal atres... |
ORPHA:95706 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morphology, Clinodactyl... |
ORPHA:137834 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Thrombocytopenia, Metaphyseal widening, Genu varum, Neutropenia,... |
OMIM:617941 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Flexion contracture, Esophageal varix, Hepatosplenomegaly, Cir... |
ORPHA:367 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Tracheal stenosis, Cryptorchidism, Cleft palate, Anterio... |
OMIM:217980 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench femora... |
OMIM:618870 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Reduction of neutrophil motility, Neutrophilia, Brachydactyly |
OMIM:266265 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... |
OMIM:617604 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndactyly, Flexion con... |
OMIM:300166 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypogonadotropic hypogonadism, Joint stiffness, Genu valgum, Abnormal metacarpal m... |
ORPHA:1295 |
| Coffin-Siris Syndrome 2 |
|
Sandal gap, Cryptorchidism, Cleft palate, Macroglossia, High palate, Short distal phalanx of fing... |
OMIM:614607 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormal fibula morphology, Abnormality of the liver, Abnormality of the ad... |
ORPHA:252164 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Hepatic cysts, Brachydactyly |
OMIM:613819 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Tapered finger, Abnormal thumb... |
ORPHA:1452 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Osteoporosis, Palmoplantar hyperkeratosis, H... |
OMIM:224230 |
| Frontorhiny |
|
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Microphthalmia, Hypopituitarism, Bifi... |
ORPHA:391474 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Flexion contracture, Broad palm, Coxa vara, Flattened epiphysis, Metaphysea... |
OMIM:300232 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Talipes equinovarus, Cli... |
OMIM:619859 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Colorectal polyposis, ... |
ORPHA:276399 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Slender long bone, Decreased calvarial ossification, Arthrogrypos... |
OMIM:618265 |
| Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... |
OMIM:618935 |
| Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute l... |
ORPHA:99812 |
| Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
| Tonne-Kalscheuer Syndrome |
|
Cryptorchidism, Velopharyngeal insufficiency, Broad thumb, Dysphagia, Decreased testicular size, ... |
OMIM:300978 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Short metatarsal, Sma... |
OMIM:614813 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Cryptorchi... |
ORPHA:783 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Foot joint contracture, Cryptorchidism, Male hypogonadism, Anemia |
ORPHA:90321 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cryptorchidism, Aplasia/Hypoplasia involvin... |
ORPHA:3301 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Cleft palate, Hypoplastic pelvis, Microphthalmia, Adrenal gland agenesis, Anal atresia |
OMIM:273395 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Hyperthyroidism, Short metatars... |
OMIM:170390 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplastic spleen |
OMIM:601186 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Postaxial hand pol... |
OMIM:605627 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Osteoporosis, Abnormality of the liver, Shoulder girdle muscl... |
ORPHA:254892 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Microphtha... |
ORPHA:2250 |
| Fryns Syndrome |
|
Meckel diverticulum, Ectopic pancreatic tissue, Aganglionic megacolon, Single transverse palmar c... |
OMIM:229850 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Bra... |
ORPHA:377 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Neut... |
OMIM:271510 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, High palate, Short palm, Short phalanx of finger, Pseudoarthrosis, ... |
OMIM:166250 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Cleft palate, Abdominal situs inversus, Camptodactyly, Clinodactyly of ... |
OMIM:619123 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... |
ORPHA:2655 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... |
ORPHA:1333 |
| Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, ... |
OMIM:113650 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhi... |
OMIM:108720 |
| Monosomy 18P |
|
Microphthalmia, Hypothyroidism, Cleft palate, Brachydactyly |
ORPHA:1598 |
| Rin2 Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased susceptibility to fractures, High palat... |
ORPHA:217335 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cleft pal... |
ORPHA:2166 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... |
ORPHA:90791 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal varix, Ly... |
OMIM:615688 |
| Immunodeficiency 12 |
|
Esophageal stricture, Clubbing, Abnormal lymphocyte count, Osteoporosis |
OMIM:615468 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
| Vacterl/Vater Association |
|
Finger syndactyly, Preaxial hand polydactyly, Abnormality of the pancreas, Cryptorchidism, Abnorm... |
ORPHA:887 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... |
OMIM:612813 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Broad palm, Short palm, Abnormal ... |
OMIM:182290 |
| Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
| Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Osteomyelit... |
OMIM:614162 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged l... |
ORPHA:449432 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Osteoporosis, Neutropenia, Gout... |
OMIM:232220 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post... |
OMIM:263520 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Papa Syndrome |
|
Limitation of joint mobility, Lymphadenopathy, Arthritis, Crohn's disease, Type I diabetes mellitus |
ORPHA:69126 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
| Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Brachydactyly |
OMIM:616459 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Metaphyseal scle... |
ORPHA:2905 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, ... |
ORPHA:653 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Pancr... |
OMIM:602782 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Cleft soft palate, Cryptorchidism, Partial duplication of thumb phalanx, Cleft pal... |
OMIM:616331 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Short digit, Proximal placement of thumb, Anisopoikilocytosis, Talipes eq... |
OMIM:615789 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
| Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Osteomalacia, Splenomegaly, Atypical or prolo... |
OMIM:277900 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Cleft palate, Gastroesophageal reflux, Clinodactyly, Brachydactyly |
OMIM:617808 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, High palate, Cubitus valgus, Hypothyroidism |
OMIM:619750 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul... |
OMIM:226960 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Short phalanx of finger, Ty... |
OMIM:600430 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth ... |
OMIM:601559 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... |
ORPHA:2658 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Abnormality of the elbow, Flexion contracture, Genu valgum, Irregul... |
ORPHA:263463 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnorma... |
ORPHA:1824 |
| Trisomy 8Q |
|
Camptodactyly of finger, Joint stiffness, Cryptorchidism, Bone cyst, Cleft palate, Deep palmar cr... |
ORPHA:1752 |
| 3C Syndrome |
|
Finger syndactyly, Intestinal malrotation, Adrenal hypoplasia, High, narrow palate, Cleft palate,... |
ORPHA:7 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Cleft palate, High palate, Abnormal epiphysis morphology, Sh... |
ORPHA:1784 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Congenital contracture |
OMIM:619036 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Abnormality of the adrenal... |
ORPHA:861 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Intestinal malrotation, Velopharyngeal insufficiency... |
OMIM:614701 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talipes equinovarus, C... |
OMIM:236500 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Rectal... |
ORPHA:235 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2473 |
| Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Polydactyly, High palate, Clinodactyly, Brachyda... |
OMIM:618950 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Cryptorchidism, Small hand, Annular pancreas, Osteoporos... |
OMIM:268400 |
| Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... |
ORPHA:79444 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, Contracture of the... |
OMIM:607015 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Short middle phalanx of the 2nd finger, Short thumb, 4-5 toe syn... |
ORPHA:391641 |
| Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Extrahepatic biliary duct atresia, Joint hyperflexi... |
ORPHA:1458 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Cryptorchidism, Flexion contracture, Furrowed tongue, Short foot, Larg... |
OMIM:300534 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartom... |
OMIM:269860 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Tracheal stenosis, Precocious puberty, Coxa vara, Narrow pelvis bone, Joint hyperflex... |
ORPHA:2637 |
| Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly |
OMIM:218340 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Cleft palate, Polycystic ovaries, Large hands, Broad ... |
ORPHA:1770 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Hamartoma of tongue, Pancreatic cysts, Preaxial hand polyda... |
ORPHA:2750 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger,... |
ORPHA:508533 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Increased circulating ACTH l... |
ORPHA:90790 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy |
OMIM:611762 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Aganglionic megacolon, Postaxial polyda... |
OMIM:209900 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia, Cryptorchidis... |
OMIM:219000 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplantar keratoderma, Brachyda... |
ORPHA:2824 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Joint stiffness, Precocious puberty, Cleft palate, Hand polydactyly, Gastroesopha... |
ORPHA:819 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
| Jansen-De Vries Syndrome |
|
Short foot, Gastroesophageal reflux, Small hand, Brachydactyly |
OMIM:617450 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clinodactyly, High palate... |
OMIM:617137 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Mesoaxial polydactyly, Radial bowing, P... |
ORPHA:672 |
| Woolly Hair Nevus |
|
Precocious puberty, Brachydactyly |
ORPHA:79414 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Mesomelia, Camptodactyly, Prominent fingertip pads, ... |
OMIM:618529 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... |
ORPHA:87 |
| Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... |
ORPHA:79443 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, High palate, T... |
OMIM:619762 |
| Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
| Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... |
ORPHA:54028 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Erythroid hypopl... |
OMIM:620072 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Fraser Syndrome |
|
Finger syndactyly, Anal stenosis, Anophthalmia, Toe syndactyly, Anal atresia, Cryptorchidism, Ect... |
ORPHA:2052 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Broad hallux, Single transverse palmar crease, Overlapping toe, Unilateral cry... |
ORPHA:96149 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
| Fanconi Anemia, Complementation Group L |
|
Anal atresia, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft p... |
OMIM:614083 |
| Geleophysic Dysplasia 1 |
|
Short palm, Hepatomegaly, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short... |
OMIM:231050 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Abnormality of the... |
ORPHA:85408 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Joint laxity, Vert... |
OMIM:268310 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Cirrh... |
OMIM:215600 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Infla... |
ORPHA:98813 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Abnormality of the hand, Brachydactyly |
ORPHA:1264 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Intestinal malrotation, Craniosynostosis, Cryptorchidism, Cleft palate, Gastroesophageal reflux, ... |
ORPHA:457193 |
| Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Bicoronal synost... |
OMIM:604757 |
| Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, ... |
ORPHA:96148 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Hepatomegaly, Limited elbow movement, Limited wrist movement, Tracheal sten... |
OMIM:617809 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... |
OMIM:277170 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of... |
ORPHA:2636 |
| Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Hepatomegaly, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, ... |
OMIM:618143 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... |
ORPHA:93274 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Jacobsen Syndrome |
|
Cryptorchidism, Pyloric stenosis, Flexion contracture, Macular hypoplasia, Clinodactyly of the 5t... |
OMIM:147791 |
| Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
| Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Increased serum testosterone level, Cubitus valgus, Abnormality of the ovary, Brach... |
ORPHA:247768 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
| Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Optic nerve hypoplasia, Brachydactyly |
OMIM:618381 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:601812 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Intestinal malrotation, Portal hypertension, Rickets, Eso... |
OMIM:613658 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Duodenal ulcer, Malabsorption, Steatorrhea, Brachydactyly |
ORPHA:3217 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Joint stiffness, ... |
ORPHA:394 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, High palate, Bifid uvula |
OMIM:618779 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Large han... |
ORPHA:3219 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Craniosynostosis, Abnormality of the endocrine system, Metaphyse... |
ORPHA:166035 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Cryptorchidism, Hypoplasia of the radius,... |
ORPHA:96097 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Bilateral cryptorchidism, Central Y-shape... |
ORPHA:2754 |
| Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Supernumerary nipple,... |
OMIM:113620 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Primary tes... |
ORPHA:85450 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Orthostatic Hypotension 1 |
|
High palate, Joint hypermobility, Reduced circulating prolactin concentration, Brachydactyly |
OMIM:223360 |
| Jung Syndrome |
|
Tracheal stenosis, Hypothyroidism |
ORPHA:2321 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... |
OMIM:202010 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... |
OMIM:257200 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Palmoplantar keratoderma, Mitten deformity, ... |
ORPHA:79409 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe syndactyly... |
OMIM:617061 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hammertoe, Multinodular goiter, Adenocarcinoma of the colon |
OMIM:620189 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Anemia, Macroglossia, Talipes equinovarus, Camptodacty... |
ORPHA:79325 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Brachydactyly, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:2083 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Abnormality of the elbow, Hip dislocation, Short middle phala... |
ORPHA:1005 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tong... |
OMIM:190685 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Palmar pits, Hamartomatous stomach pol... |
OMIM:109400 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Cleft palate |
OMIM:611812 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Macroglossia, Abnormal epip... |
ORPHA:1798 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Diabetes mellitus, Abnormal morphology of uln... |
ORPHA:2911 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Hepatosplenomegaly, Macroglossia, High palate, Talipes equinovarus, Camptodactyly, Clinodactyly, ... |
ORPHA:397709 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Abnormality of the gallbladder, Abnormal mesentery mo... |
ORPHA:2075 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Osteolysis, Synovitis... |
ORPHA:47612 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Malabsorp... |
OMIM:557000 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia,... |
OMIM:304110 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Cryptorchidism, ... |
ORPHA:2308 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Abnormal ossificat... |
ORPHA:79345 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Tracheal stenosis, Cryptorchidism, Small hand, Cleft palate, Short foot, Shor... |
OMIM:300712 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Cleft palate, Drumstick terminal phalanges, Bifid uvula, Brach... |
OMIM:612938 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, J... |
ORPHA:275761 |
| Pgm3-Cdg |
|
Hemolytic anemia, Lactose intolerance, Osteomyelitis, Abnormal proportion of CD8-positive T cells... |
ORPHA:443811 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Cryptorchidism, Small hand, Short palm, Clinodactyly of the 5th... |
ORPHA:1786 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Macs Syndrome |
|
Joint laxity, Hypergonadotropic hypogonadism, Single transverse palmar crease, Cryptorchidism, Os... |
OMIM:613075 |
| Castleman Disease |
|
Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lym... |
ORPHA:160 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism |
ORPHA:42775 |
| Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Hepatic fibrosis, High palate, Joint laxity... |
OMIM:218330 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
| Aceruloplasminemia |
|
Refractory anemia, Diabetes mellitus, Abnormal pancreas morphology, Hypochromic microcytic anemia... |
ORPHA:48818 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem... |
OMIM:610759 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:502 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Recurrent tonsillitis, Cervical lymphadenopath... |
ORPHA:2686 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Cryptorchidism, Short toe, Limitation of join... |
OMIM:139210 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Limitation of joi... |
ORPHA:343 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
| Doors Syndrome |
|
Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosi... |
ORPHA:79500 |
| Trisomy 18 |
|
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Esophageal atresia, Cleft pa... |
ORPHA:3380 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Clinodactyly of the 5th finger, Short distal phalanx of finger, Bra... |
ORPHA:2163 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Esoph... |
ORPHA:84081 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... |
ORPHA:139411 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
| Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
| Hall-Riggs Syndrome |
|
Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,... |
ORPHA:2107 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
| Kleefstra Syndrome 1 |
|
Single transverse palmar crease, Protruding tongue, Cryptorchidism, Macroglossia, Gastroesophagea... |
OMIM:610253 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Tracheal stenosis, Elbow disl... |
OMIM:150250 |
| Chitayat Syndrome |
|
Hallux valgus, Tracheomalacia, Brachydactyly |
OMIM:617180 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Joint stiffness, Splenome... |
ORPHA:809 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Sho... |
OMIM:143095 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Cryptorchidism, Reduced bo... |
ORPHA:261318 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Palmoplantar keratoderma, Multinodular goiter |
OMIM:618373 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Decreased response to growth hormone stimulation te... |
ORPHA:96182 |
| Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Dysphagia |
OMIM:615636 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... |
OMIM:620232 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Joint stiffness, Oral-pharyngeal dysphagia, Cleft palate, Short long bone, ... |
OMIM:619184 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Thrombocytope... |
ORPHA:261323 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachyd... |
ORPHA:955 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, Flexion contracture,... |
ORPHA:847 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:233 |
| Radio-Tartaglia Syndrome |
|
Tapered finger, Precocious puberty, High, narrow palate, High palate, Gastroesophageal reflux, Dy... |
OMIM:619312 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... |
OMIM:619227 |
| Microcephaly-Capillary Malformation Syndrome |
|
Clinodactyly, Brachydactyly, Cleft palate, Short distal phalanx of finger |
OMIM:614261 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enl... |
ORPHA:79078 |
| Short Syndrome |
|
Diabetes mellitus, Hypoplasia of the iris, Joint hyperflexibility, Short palm, Brachydactyly |
ORPHA:3163 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Sandal gap, Brachydactyly |
ORPHA:2180 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping sh... |
OMIM:309800 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Broad hallux, Single transverse palmar crease, Aplasia of the thymus, Congenital h... |
OMIM:620186 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Rocker bottom foot, Crypto... |
ORPHA:163979 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Hyperthyroidism, Autoimmune thrombo... |
ORPHA:37042 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati... |
OMIM:614800 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Abnormality of the elbow, Palmoplantar hyperkeratosis |
ORPHA:158673 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... |
OMIM:119600 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Microspherophakia, Broad palm, Narrow palate, Broad phalanges ... |
OMIM:277600 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Short 2nd toe, O... |
OMIM:311200 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Palmoplantar keratoderma, Dysphagia |
OMIM:616029 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... |
ORPHA:309854 |
| Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Precocious puberty, Cryptorchidism, Su... |
ORPHA:2588 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Hypoplasia of the iris, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Joint stiffness, Microspherophakia, Short metatarsal, Broad p... |
OMIM:608328 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas... |
ORPHA:93111 |
| Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... |
ORPHA:774 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... |
ORPHA:83471 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Postaxial polydactyly, Supernumerary nipple, Rhizomelic leg short... |
ORPHA:397715 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Cryptorchidism, Cleft palate, Finger clinodactyly, Camptodact... |
OMIM:601353 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Cleft palate, Clinodactyly of th... |
ORPHA:2916 |
| H Syndrome |
|
Hallux valgus, Diabetes mellitus, Recurrent fractures, Microcytic anemia, Malabsorption, Delayed ... |
ORPHA:168569 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ileus, Congenital contracture, High palate, Brachydactyly |
OMIM:620156 |
| Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, P... |
ORPHA:284 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Abnormality of the hand, Thrombocytopenia, Short... |
ORPHA:333 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atresia, Cleft palate, Slender... |
OMIM:610536 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy |
ORPHA:85414 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Gastroesophageal reflux, Finger syndactyly, Rhizomelia, Cryptorchidi... |
ORPHA:818 |
| Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Narrow palate, Osteolytic defects of the dista... |
OMIM:265800 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Hypothyroidism, Metaphyseal wide... |
OMIM:607944 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Short metatarsal, Hepatic fibrosis, High palate, Clinodactyly of the 5th... |
OMIM:266920 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymphadenopathy, Arthritis, Fi... |
OMIM:617591 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... |
ORPHA:3261 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Cryptorchidism, Cleft palate, Anteriorly placed anus, Mesomelia, Camptodactyly, Clino... |
OMIM:616894 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Adrenal insufficiency, Dysphagia |
OMIM:615510 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Hepatomegaly, Rhizomelia, Cholangitis, Craniosynostosis, Splenomegaly, ... |
OMIM:613610 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Graft Versus Host Disease |
|
Dupuytren contracture, Limited elbow movement, Jaundice, Stiff interphalangeal joints, Limited sh... |
ORPHA:39812 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Postaxial hand polydactyly... |
OMIM:620107 |
| Chops Syndrome |
|
Splenomegaly, Cryptorchidism, High, narrow palate, Gastroesophageal reflux, Tracheomalacia, Cervi... |
OMIM:616368 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Abnormality of the spleen, Splenomegaly, Thrombocytopenia, Esophagea... |
ORPHA:2072 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Anemia, In... |
ORPHA:2908 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal rectum morphology, Microphthalmia, Abnormal testis morphology, Abnormality... |
ORPHA:2556 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Abnormal natural killer cell count, Hepatitis, Lymp... |
ORPHA:158061 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Abnormal diaphysis morph... |
ORPHA:2021 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy |
OMIM:619183 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Cryptorchidism, Abnormality of the spleen, Hypothyroidi... |
ORPHA:1606 |
| Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyte morpho... |
ORPHA:3162 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Optic nerve hypoplasia, Joint stiffness, Flexion contracture, Overlapping fing... |
OMIM:609069 |
| Prader-Willi Syndrome Due To Translocation |
|
Overlapping toe, Decreased response to growth hormone stimulation test, Anterior pituitary hypopl... |
ORPHA:177907 |
| Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality o... |
ORPHA:744 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233710 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia |
ORPHA:3386 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
| Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr... |
ORPHA:79329 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal dysphagi... |
ORPHA:404448 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cryptorchidism, Furrowed tongue, Hip dysplasia, High palate, Gastroesophageal reflux,... |
OMIM:616975 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
| Noonan Syndrome |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormality of the spleen, Cryptorchidism, Abnormali... |
ORPHA:648 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, ... |
ORPHA:508542 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Cleft soft palate, Tracheal stenosis |
OMIM:620183 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Overlapping toe, Myeloid leukemia, Aganglionic megacolon, Hypoplastic pubic bone, D... |
ORPHA:798 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact... |
OMIM:614976 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Cleft palate, Ulnar dev... |
ORPHA:1358 |
| White-Sutton Syndrome |
|
Joint laxity, Optic nerve hypoplasia, Cleft palate, Broad thumb, High palate, Gastroesophageal re... |
OMIM:616364 |
| Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:233690 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Small pituita... |
OMIM:619479 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Esophageal stricture, High palate, Neutropenia, Lymphopenia, Join... |
OMIM:615816 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
| Boutonneuse Fever |
|
Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thro... |
ORPHA:83313 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Metaphyseal chondrodysplasia, Short di... |
OMIM:250410 |
| Arima Syndrome |
|
Hepatomegaly, Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Hepatic f... |
OMIM:243910 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cryptorchidism, Splenomegaly, Adrenocortic... |
ORPHA:116 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
High palate, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhizo... |
OMIM:180700 |
| Kabuki Syndrome 2 |
|
Joint laxity, Hip dislocation, Cleft palate, Short 5th finger, High palate, Prominent fingertip p... |
OMIM:300867 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Flexion contracture... |
OMIM:210710 |
| Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Protruding tongue, Cleft pa... |
OMIM:259775 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Cholestatic liver diseas... |
ORPHA:540 |
| Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis, Esophagitis |
ORPHA:3348 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Proportionate shortening of all digits, Tapered finger, Small hand, Short foot, Hy... |
ORPHA:280633 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,... |
ORPHA:1292 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Decreased response to growth hormone stimulation test, Sandal gap, ... |
ORPHA:506358 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hematochez... |
OMIM:615895 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Submucous cleft hard palate, Tapered finger |
OMIM:619680 |
| Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
| Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Esophageal atresia, High palate, Clinodactyly, Brachydactyly |
ORPHA:2209 |
| Bohring-Opitz Syndrome |
|
Ulnar deviation of the wrist, Limitation of joint mobility, Bilateral wrist flexion contracture, ... |
ORPHA:97297 |
| Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Short middle phalan... |
OMIM:301030 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... |
OMIM:601358 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J... |
OMIM:214500 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Anal fissure, Flexion contracture, Osteoporosis, Dysphagia, G... |
ORPHA:79408 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Tracheal stenosis, Bifid uvula |
ORPHA:1790 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia |
OMIM:601612 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Supernumerary nipple, Unilateral brachydactyly, High palate, Aplasi... |
ORPHA:1521 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lymph... |
ORPHA:342 |
| Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, High palate, Brachydactyly |
OMIM:620237 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
High palate, Brachydactyly |
OMIM:619995 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Hepatic fibrosis, Gastroesophageal reflux, Intrahepati... |
OMIM:619534 |
| Floating-Harbor Syndrome |
|
Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middle ph... |
OMIM:136140 |
| Chronic Graft Versus Host Disease |
|
Pancytopenia, Esophageal stricture, Flexion contracture, Xerostomia, Arthritis, Abnormal esophagu... |
ORPHA:99921 |
| Genitopatellar Syndrome |
|
Hip contracture, Anal stenosis, Congenital hip dislocation, Cryptorchidism, Hypothyroidism, Patel... |
OMIM:606170 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Cleft palate, Aplasia of the distal phalanx of the ... |
ORPHA:364577 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad 2nd toe, Palmoplantar hyperkeratosis, Cleft palate, Hydrocele testis, Acute l... |
OMIM:280000 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Esophageal stricture, Ost... |
OMIM:305000 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion contracture, Ac... |
OMIM:268300 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Stomach cancer, Autoimmune thrombocytopenia, Lympha... |
ORPHA:331235 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
| Keutel Syndrome |
|
Tracheal atresia, Short distal phalanx of finger |
ORPHA:85202 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Monosomy 13Q14 |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cl... |
ORPHA:1587 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger, High palat... |
OMIM:618050 |
| Radio-Renal Syndrome |
|
Micromelia, High, narrow palate, Hypoplasia of the radius, Abnormality of the elbow, Short palm, ... |
ORPHA:3015 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Median cleft lip and palate, Camptodactyly of finger, Micromelia, Coxa valga, ... |
ORPHA:3107 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po... |
OMIM:192350 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
| Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, High palate, Optic nerve hypoplasia |
ORPHA:141099 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ... |
ORPHA:36426 |
| Arboleda-Tham Syndrome |
|
Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Craniosynostosis, Bilateral cry... |
OMIM:616268 |
| Distal Deletion 9P |
|
High, narrow palate, Cleft palate, Brachydactyly |
ORPHA:1642 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... |
ORPHA:100078 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
| Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Craniosynostosis, Tapered finger, Cryptorchidism, Flexion contracture, Small han... |
OMIM:309590 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Splenomegal... |
ORPHA:50918 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Lymp... |
ORPHA:667 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Cleft palate, Anteriorly placed anus, High palate, Clinoda... |
ORPHA:3338 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, Joint hyperflexibility, High palate, Clino... |
ORPHA:1974 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsorption, Splenomegaly, Pylori... |
ORPHA:2136 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatocytosis, Brachydactyly |
ORPHA:168577 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Cryptorch... |
ORPHA:97360 |
| Coccidioidomycosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the endocrine system, Abnormality of the spleen, Peri... |
ORPHA:228123 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Cleft palate, Brachydactyly |
OMIM:616954 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ... |
OMIM:613406 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Duodenal ulc... |
OMIM:619381 |
| Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Protruding tongue, Bilateral camptodactyly, Elbow flexion contra... |
OMIM:619777 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Small hand, Fibular hypoplasia, Hypoplasia... |
ORPHA:444077 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi... |
OMIM:617088 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Lymphadenopathy |
ORPHA:2483 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... |
OMIM:306400 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Rectal prolapse, Short metatarsal, Pseudohypoparathyroidism, High palate, Gastr... |
OMIM:617157 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Protruding tongue, High palate, Clinodactyly of th... |
OMIM:617062 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Palmoplantar hyperkeratosis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
| Multiple Myeloma |
|
Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ... |
ORPHA:29073 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Celiac disease... |
ORPHA:293987 |
| Barber-Say Syndrome |
|
Absent nipple, Cryptorchidism, Velopharyngeal insufficiency, High palate, Talipes equinovarus, Hy... |
OMIM:209885 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Orchitis, Abnormal sacroiliac joint morphology, Peritonitis, Splenomegaly... |
ORPHA:32960 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Supernumerary nipple, Tapered finger, Short thumb, Cryptorchidism, Clinodactyly of the 5th finger... |
ORPHA:477993 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ... |
ORPHA:556955 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Supernumerary nipple, Cleft palate, Talipes equinovarus, Microphthalmia, Brachyda... |
OMIM:100300 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma... |
OMIM:617718 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, M... |
ORPHA:306542 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single tr... |
OMIM:612474 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
| Brucellosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Osteomyelitis, Thrombocyt... |
ORPHA:1304 |
| Meester-Loeys Syndrome |
|
Arachnodactyly, High palate, Broad distal phalanx of finger, Camptodactyly, Joint contracture, Bi... |
OMIM:300989 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Knee osteoarthritis, Vaginal hydroc... |
ORPHA:2035 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Bilobate ga... |
OMIM:261540 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Art... |
OMIM:260920 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervic... |
OMIM:157800 |
| Elsahy-Waters Syndrome |
|
Anal stenosis, Bilateral cryptorchidism, Abnormality of the anus, Shortening of all phalanges of ... |
OMIM:211380 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Camptodactyly of finger, Microcytic anemia, Lo... |
OMIM:256040 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Hemolytic anemia, Hyperthyroidism, Diabe... |
ORPHA:797 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... |
ORPHA:449563 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Single transverse palmar crease, Dysphagia, Gastroesophageal reflux, Short palm, Prominent finger... |
ORPHA:466950 |
| Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epiphysis, Short thumb... |
ORPHA:2044 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, ... |
OMIM:193300 |
| Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Aganglionic megacolon, Short palm |
ORPHA:3339 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchidism, High, narrow ... |
OMIM:163950 |
| Congenital Tracheomalacia |
|
Esophageal atresia, Tracheoesophageal fistula, Gastroesophageal reflux, Tracheomalacia, Tracheobr... |
ORPHA:95430 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Metatarsus adductus, Cryptorchidism, Submucous cleft hard palate, Abnorm... |
OMIM:607872 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Single transverse palmar crease, Gastrointestinal dysmotility, Dysphagia, Gastroesophageal reflux... |
ORPHA:466943 |
| Peters Plus Syndrome |
|
Intestinal fistula, Toe syndactyly, Rhizomelia, Micromelia, Cryptorchidism, Short toe, Cleft pala... |
ORPHA:709 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Esophageal stricture, Osteoporosis, Gastrointestinal inflammation,... |
ORPHA:79404 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy |
ORPHA:199241 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Tapered finger, Protruding tongue, Cryptorchidism, Genu valgum, Macrog... |
OMIM:309580 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Bifid uvula, Long hal... |
ORPHA:261537 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Stiff neck, Neutrophilia, Pancytopenia, Orchitis, Splenomegaly,... |
ORPHA:99827 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Biliary atresia, Congenital... |
ORPHA:2255 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Cryptorchidism, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1519 |
| Mowat-Wilson Syndrome |
|
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
| Craniofacial Microsomia 1 |
|
Anophthalmia, Block vertebrae, Partial duplication of thumb phalanx, Cleft palate, Genu valgum, M... |
OMIM:164210 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Chikungunya |
|
Joint stiffness, Periostitis, Cervical lymphadenopathy, Osteolysis, Synovitis, Enthesitis, Lympha... |
ORPHA:324625 |
| Fraser Syndrome 3 |
|
Short toe, Tracheal atresia, Cutaneous syndactyly |
OMIM:617667 |
| Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration, Diabetes mellitus, Delayed puberty |
OMIM:176690 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Cleft hard palate, Calcaneovalgus deformity, Flexion contracture, Bifid uvula, Long hal... |
ORPHA:261552 |
| Ayme-Gripp Syndrome |
|
Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger |
OMIM:601088 |
| Blau Syndrome |
|
Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Xerostomia, Synovitis, Lymph... |
ORPHA:90340 |
| Granulomatosis With Polyangiitis |
|
Tracheal stenosis, Granulomatosis |
OMIM:608710 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Mogs-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Inappropriate antidiuretic hormo... |
ORPHA:79330 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Recurrent fractures, High palate, Hand clenching, Overlapping fingers |
OMIM:606056 |
