Holoprosencephaly Type 2

Preferred Label : Holoprosencephaly Type 2;

NCIt synonyms : Holoprosencephaly 2;

NCIt definition : A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.;

Details

Origin ID

C74995;

UMLS CUI

C1834877;

Currated CISMeF NLP mapping
- Holoprosencephaly 2 [OMIM Phenotype]
- holoprosencephaly 2 [DO Concept]
- holoprosencephaly 2 [MeSH concept]
- holoprosencephaly 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly 2 [OMIM Phenotype]
- holoprosencephaly 2 [MeSH Supplementary Concept]
- holoprosencephaly 2 [MeSH concept]
- holoprosencephaly 2 [DO Concept]
disease_has_associated_gene
- SIX3 Gene [NCIt concept]
- SIX3 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SIX3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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