Alpha-fetoprotein, hereditary persistence of

Preferred Label : Alpha-fetoprotein, hereditary persistence of;

Symbol : HPAFP;

CISMeF acronym : HPAFP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-fetoprotein gene (AFP, 104150.0001);

Laboratory abnormalities : Elevated serum alpha-fetoprotein;

Prefixed ID : #615970;

Détails

Origin ID

615970;

UMLS CUI

C1863080;

Automatic exact mappings (from CISMeF team)
- AFP wt Allele [NCIt concept]
- symbol withdrawn HPAFP [HGNC gene]
CISMeF manual mappings
- Hereditary persistence of alpha-fetoprotein (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hereditary persistence of alpha-fetoprotein [ORDO Disease]
- hereditary persistence of alpha fetoprotein [Disease (Nov.)]
Genes related to phenotype
- Alpha-fetoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated alpha-fetoprotein [HPO term]
ORDO concept(s)
- Hereditary persistence of alpha-fetoprotein [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary persistence of alpha-fetoprotein [ORDO Disease]
- Hereditary persistence of alpha-fetoprotein (disorder) [SNOMED CT concept]
- hereditary persistence of alpha fetoprotein [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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