01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Townes Syndrome
- Standard Disease Name
- townes syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C536974
- OMIM ID
- 107480|602218
- UMLS ID
- C0265246
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.|NCI2016_02D:An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.|JABL99:A syndrome in which 2 or more of the following abnormalities occur in most patients: Anorectal malformations (imperforate, stenotic, or anteriorly situated anus), hand deformities (polydactyly, broad, bifid, or triphalangeal thumbs), and external ear abnormalities (microtia, "satyr" or "lop" ear, and preuricular tags or pits), and sensorineural deafness. Intellectual deficit related to hearing disorders or occurring independently may be associated. Urinary tract abnormalities are present in some patients.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target8 Ingredients