Hypoparathyroidism, familial isolated, 2

Preferred Label : Hypoparathyroidism, familial isolated, 2;

Symbol : FIH2;

CISMeF acronym : FIH2;

Type : Phenotype, molecular basis known;

Prefixed ID : #618883;

Détails

Origin ID

618883;

UMLS CUI

C5394383;

Genes related to phenotype
- Glial cells missing transcription factor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating parathyroid hormone level [HPO term]
- Hyperphosphatemia [HPO term]
- Hypocalcemia [HPO term]
- Hypocalcemic seizures [HPO term]
ORDO concept(s)
- Familial isolated hyperparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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