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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00604 | Deafness, autosomal dominant | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease | |
| H00605 | Deafness, autosomal recessive | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease | |
| H00606 |
Early infantile epileptic encephalopathy Developmental and epileptic encephalopathy Ohtahara syndrome |
Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... | Nervous system disease | |
| H00607 | 46,XY gonadal dysgenesis | Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial ... | Reproductive system disease | |
| H00608 | 46,XY disorder of sex development due to testosterone secretion defect | 46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization, and the presence or absence of Mullerian structures ... | Reproductive system disease | |
| H00609 | Persistent Mullerian duct syndrome | Persistent Mullerian duct syndrome (PMDS) is a rare form of a 46,XY disorder of sex development, in which remnants of Mullerian ducts are seen in phenotypically normal males. The syndrome is caused either ... | Reproductive system disease | |
| H00610 | Treacher Collins syndrome | Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes ... | Ribosomopathy | |
| H00611 | Popliteal pterygium syndrome (PPS) | Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing ... | Congenital malformation | |
| H00612 |
Primary open angle glaucoma Glaucoma 1 |
Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive ... | Nervous system disease | |
| H00613 |
Infantile cortical hyperostosis Caffey disease |
Infantile cortical hyperostosis (ICH) is a self-limiting inflammatory disease characterized by swelling of soft tissues and periosteal hyperostosis mainly affecting long bones, mandible, clavicles, and ... | Musculoskeletal disease | |
| H00614 | Hyaline fibromatosis syndrome | Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with ... | Musculoskeletal disease | |
| H00615 | Amelogenesis imperfecta | Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... | Congenital malformation | |
| H00616 | Bowen-Conradi syndrome | Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation. Most patients do not survive beyond the ... | Ribosomopathy | |
| H00617 | Desmosterolosis | Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ... | Inherited metabolic disorder | |
| H00618 | Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism | Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia ... | Congenital malformation | |
| H00619 | Kenny-Caffey syndrome | Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections ... | Congenital malformation | |
| H00620 | Axenfeld-Rieger syndrome | Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of ... | Congenital malformation | |
| H00621 |
Alopecia neurologic defects and endocrinopathy syndrome ANE syndrome |
Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied ... | Ribosomopathy | |
| H00622 |
Hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome |
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia ... | Congenital malformation | |
| H00623 | Hajdu-Cheney syndrome | Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull ... | Musculoskeletal disease | |
| H00624 | Progressive familial intrahepatic cholestasis | Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... | Inherited metabolic disorder | |
| H00625 |
Tooth agenesis Hypodontia |
Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... | Congenital malformation | |
| H00626 | Focal segmental glomerulosclerosis | Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting ... | Urinary system disease | |
| H00627 | Premature ovarian failure | Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... | Reproductive system disease | |
| H00628 | Congenital bile acid synthesis defect | Congenital bile acid synthesis defects (CBAS) involve congenital deficiencies in enzymes responsible for catalyzing key reactions in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in ... | Inherited metabolic disorder | |
| H00629 | Acheiropodia | Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and ... | Congenital malformation | |
| H00630 | Rheumatoid arthritis | Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular ... | Immune system disease | hsa05323 Rheumatoid arthritis |
| H00631 | Cornelia de Lange syndrome | Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients ... | Congenital malformation | |
| H00632 |
Heterotaxy Situs ambiguus |
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... | Congenital malformation | |
| H00633 | Duane retraction syndrome | Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of ... | Nervous system disease | |
| H00634 |
Duane-radial ray syndrome Okihiro syndrome |
Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper ... | Congenital malformation | |
| H00635 | Aniridia | Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of ... | Congenital malformation | |
| H00636 | Tetra-amelia syndrome | Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system ... | Congenital malformation | |
| H00637 |
Ulnar-mammary syndrome Schinzel syndrome |
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary ... | Congenital malformation | |
| H00638 |
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome EEC syndrome |
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the ... | Congenital malformation | |
| H00639 |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy EEM syndrome |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis ... | Congenital malformation | |
| H00640 | Limb-mammary syndrome | Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients ... | Congenital malformation | |
| H00641 | ADULT syndrome | ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of ... | Congenital malformation | |
| H00642 |
Lacrimo-auriculo-dento-digital syndrome LADD syndrome Levy-Hollister syndrome |
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness ... | Congenital malformation | |
| H00643 |
Tooth and nail syndrome Witkop syndrome |
Witkop syndrome, also known as tooth and nail syndrome, is a form of ectodermal dysplasia manifested by hypodontia and nail dysplasia. Several teeth are congenitally missing and nails are spoon-shaped ... | Congenital malformation |
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