Hypertrichosis, congenital generalized, 2

Preferred Label : Hypertrichosis, congenital generalized, 2;

Symbol : HTC2;

CISMeF acronym : CGH; HCG; HTC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome xq27.1 interchromosomal insertion syndrome; CGH; HCG;

Inheritance : X-linked dominant;

Molecular basis : Caused by palindrome-mediated interchromosomal insertions on chromosome Xq27.1;

Prefixed ID : #307150;

Details

Origin ID

307150;

UMLS CUI

C5887323;

Automatic exact mappings (from CISMeF team)
- CGA wt Allele [NCIt concept]
- Chorionic Gonadotropin, Human [International Nonproprietary Name]
- Comparative Genomic Hybridization [NCIt concept]
- Congenital generalised hypertrichosis [ICD-11 More detail]
- HCG [LOINC component]
- HTC2 Gene [NCIt concept]
- HTC2 gene [LOINC component]
- Human Chorionic Gonadotropin [NCIt concept]
- Recombinant Human Chorionic Gonadotropin [NCIt concept]
- chorionic gonadotropin, human [MeSH concept]
- comparative genomic hybridization [MeSH Descriptor]
- comparative genomic hybridization [MeSH concept]
- human chorionic gonadotropin, nos [SNOMED Notion]
- hypertrichosis 2 (generalized, congenital) [HGNC gene]
- hypoplastic left heart syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- Congenital, generalized hypertrichosis [HPO term]
- X-linked congenital generalized hypertrichosis [ORDO Disease]
- X-linked congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- hypertrichosis congenital generalized X-linked [MeSH Supplementary Concept]
False automatic mappings
- Choriogonadotropin Beta Measurement [NCIt concept]
- HUMAN CHORIONIC GONADOTROPIN [SMS substance]
- Human chorionic gonadotropin (substance) [SNOMED CT concept]
- chorionic gonadotropin [MeSH Descriptor]
HPO term(s)
- Congenital, generalized hypertrichosis [HPO term]
- Hirsutism [HPO term]
- Scoliosis [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
NCIt concept(s)
- HTC2 Gene [NCIt concept]
ORDO concept(s)
- Hypertrichosis lanuginosa congenita [ORDO Disease]
- X-linked congenital generalized hypertrichosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- Congenital, generalized hypertrichosis [HPO term]
- Hypertrichosis congenital generalized X-linked [MeSH concept]
- X-linked congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
- hypertrichosis congenital generalized X-linked [MeSH Supplementary Concept]

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