Hypocalcemia, autosomal dominant 2

Preferred Label : Hypocalcemia, autosomal dominant 2;

Symbol : HYPOC2;

CISMeF acronym : HYPOC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-11 guanine nucleotide-binding protein gene (GNA11, 139313.0003);

Prefixed ID : #615361;

Details

Origin ID

615361;

UMLS CUI

C3809243;

Automatic exact mappings (from CISMeF team)
- GNA11 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- autosomal dominant hypocalcemia 2 [DO Concept]
DO Cross reference
- autosomal dominant hypocalcemia 2 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Hypocalcemia [HPO term]
- Muscle spasm [HPO term]
- Paresthesia [HPO term]
- Postnatal growth retardation [HPO term]
ORDO concept(s)
- Autosomal dominant hypocalcemia [ORDO Disease]
- Familial isolated hypoparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant hypocalcemia 2 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients