HTC2 Gene - CISMeF

Preferred Label : HTC2 Gene;

NCIt synonyms : HCG; Hypertrichosis 2 (Generalized, Congenital) Gene; Hypertrichosis, Congenital Generalized Gene; Hypertrichosis, Congenital Generalized, 2 Gene; CXINSq27.1; CGH; Chromosome Xq27.1 Interchromosomal Insertion Syndrome Gene;

NCIt related terms : HTC2;

CISMeF acronym : HTC2;

NCIt definition : Human HTC2 gene is located within Xq24-q27.1 and the size of this phenotypic locus is not reported. This gene region has no known protein product. Palindrome-mediated interchromosomal insertion in this locus is associated with congenital generalized hypertrichosis.;

Details

Origin ID

C111821;

UMLS CUI

C1415796;

Automatic exact mappings (from CISMeF team)
- HCG [LOINC component]
- HTC2 gene [LOINC component]
- Human chorionic gonadotropin (substance) [SNOMED CT concept]
- Hypertrichosis, congenital generalized, 2 [OMIM Phenotype]
- Peroxisome biogenesis disorder 11a (zellweger) [OMIM Phenotype]
- chorionic gonadotropin [MeSH Descriptor]
- comparative genomic hybridization [MeSH Descriptor]
- hypoplastic left heart syndrome [MeSH Descriptor]
False automatic mappings
- HUMAN CHORIONIC GONADOTROPIN [SMS substance]
HGNC gene
- hypertrichosis 2 (generalized, congenital) [HGNC gene]
OMIM relation
- Hypertrichosis, congenital generalized, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HTC2 gene [LOINC component]
- hypertrichosis 2 (generalized, congenital) [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]

Keyword's position in hierarchy(ies) :

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