Alpha-fetoprotein deficiency

Preferred Label : Alpha-fetoprotein deficiency;

Symbol : AFPD;

CISMeF acronym : AFPD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-fetoprotein gene (AFP, 104150.0002);

Laboratory abnormalities : Low serum alpha-fetoprotein;

Prefixed ID : #615969;

Details

Origin ID

615969;

UMLS CUI

C1863081;

CISMeF manual mappings
- alpha-Fetoprotein deficiency [MeSH Supplementary Concept]
- alpha-Fetoprotein deficiency [MeSH concept]
Currated CISMeF NLP mapping
- Congenital deficiency in alpha-fetoprotein [ORDO Disease]
- Congenital deficiency of alpha-fetoprotein (disorder) [SNOMED CT concept]
Genes related to phenotype
- Alpha-fetoprotein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased levels of alpha-fetoprotein [HPO term]
ORDO concept(s)
- Congenital deficiency in alpha-fetoprotein [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital deficiency in alpha-fetoprotein [ORDO Disease]
- alpha-Fetoprotein deficiency [MeSH concept]
- alpha-Fetoprotein deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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