Bombay phenotype

Preferred Label : Bombay phenotype;

Type : Phenotype, molecular basis known;

Included titles and symbols : Para-bombay phenotype; Reunion variant; Bombay phenotype, digenic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fucosyltransferase-1 gene (FUT1, 211100.0001);

Prefixed ID : #616754;

Details

Origin ID

616754;

UMLS CUI

C1859408;

Automatic exact mappings (from CISMeF team)
- Bombay blood group [Blood Transfusion thesaurus concept]
Currated CISMeF NLP mapping
- Bombay phenotype [LOINC component]
Genes related to phenotype
- Fucosyltransferase 1 [OMIM gene]
- Fucosyltransferase 2 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Bombay phenotype [LOINC component]

Keyword's position in hierarchy(ies) :

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