Holoprosencephaly Type 5

Preferred Label : Holoprosencephaly Type 5;

NCIt synonyms : Holoprosencephaly 5;

NCIt definition : Holoprosencephaly associated with mutations in the ZIC2 gene.;

Details

Origin ID

C75460;

UMLS CUI

C1864827;

Currated CISMeF NLP mapping
- Holoprosencephaly 5 [OMIM Phenotype]
- holoprosencephaly 5 [DO Concept]
- holoprosencephaly 5 [MeSH concept]
- holoprosencephaly 5 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly 5 [OMIM Phenotype]
- holoprosencephaly 5 [MeSH Supplementary Concept]
- holoprosencephaly 5 [MeSH concept]
- holoprosencephaly 5 [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ZIC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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