IHH wt Allele - CISMeF

Preferred Label : IHH wt Allele;

NCIt synonyms : HHG-2; BDA1; Indian Hedgehog wt Allele; HHG2;

NCIt definition : Human IHH wild-type allele is located within 2q33-q35 and is approximately 6 kb in length. This allele, which encodes indian hedgehog protein, plays a role in both bone growth and differentiation. Mutations in this gene are associated with acrocapitofemoral dysplasia and brachydactyly, type A1.;

GenBank Accession Number : NM_002181;

Details

Origin ID

C106446;

UMLS CUI

C3811699;

Automatic exact mappings (from CISMeF team)
- Brachydactyly, type a1 [OMIM Phenotype]
- Indian hedgehog signaling molecule [ORDO Gene]
- brachydactyly type A1 [DO Concept]
OMIM relation
- Indian hedgehog signaling molecule [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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