Holoprosencephaly Type 4

Preferred Label : Holoprosencephaly Type 4;

NCIt synonyms : Holoprosencephaly 4;

NCIt definition : A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.;

Détails

Origin ID

C75475;

UMLS CUI

C1840528;

Currated CISMeF NLP mapping
- Holoprosencephaly 4 [OMIM Phenotype]
- holoprosencephaly 4 [DO Concept]
- holoprosencephaly 4 [MeSH concept]
- holoprosencephaly 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Holoprosencephaly 4 [OMIM Phenotype]
- holoprosencephaly 4 [MeSH Supplementary Concept]
- holoprosencephaly 4 [MeSH concept]
- holoprosencephaly 4 [DO Concept]
associated_with_malfunction_of_gene_product
- Homeobox Protein TGIF1 [NCIt concept]
disease_has_associated_gene
- TGIF1 Gene [NCIt concept]
- TGIF1 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TGIF1 Gene [NCIt concept]

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

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