Avascular necrosis of femoral head, primary, 1

Preferred Label : Avascular necrosis of femoral head, primary, 1;

Symbol : ANFH1;

CISMeF acronym : ANFH; ANFH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Femoral head, avascular necrosis of; Femoral head, aseptic necrosis of; Ischemic necrosis of femoral head; Osteonecrosis of femoral head; ANFH;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen type II alpha-1 gene (COL2A1, 120140.0043);

Prefixed ID : #608805;

Details

Origin ID

608805;

UMLS CUI

C4551562;

Automatic exact mappings (from CISMeF team)
- AVASCULAR NECROSIS FEMORAL HEAD [WHO-ART Preferred Term]
- Aseptic Necrosis of Femoral Head [NCIt concept]
- Avascular Necrosis of Femoral Head [NCIt concept]
- Avascular necrosis femoral head [MedDRA LLT]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- COL2A1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Familial avascular necrosis of femoral head [ORDO Disease]
Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Generalized osteoporosis [HPO term]
ORDO concept(s)
- Familial avascular necrosis of femoral head [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Avascular Necrosis of Femoral Head [NCIt concept]
- Avascular necrosis femoral head [MedDRA LLT]
- Avascular necrosis of the head of femur (disorder) [SNOMED CT concept]
- Familial avascular necrosis of femoral head [ORDO Disease]
- necrosis, avascular, of femur head [MeSH concept]
Validated automatic mappings to NTBT
- femur head necrosis [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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