01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Anus, Imperforate
- Standard Disease Name
- anus, imperforate
- MeSH Tree
- No data
- ICD-10
- Q42.3
Identifiers
- DO ID
- No data
- MeSH ID
- D001006
- OMIM ID
- MTHU001447|207500|301800|MTHU005779
- UMLS ID
- C0003466
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_CDISC_1602D:Absence or closure of the anal opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.|MSH2017_2016_08_12:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.|HPO2016_07_04:Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [HPO:probinson]
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Related Targets
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