Avascular necrosis of femoral head, primary, 2

Preferred Label : Avascular necrosis of femoral head, primary, 2;

Symbol : ANFH2;

CISMeF acronym : ANFH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0034);

Prefixed ID : #617383;

Details

Origin ID

617383;

UMLS CUI

C4479260;

Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
Not associated HPO term(s)
- Platyspondyly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Familial avascular necrosis of femoral head [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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