familial isolated hypoparathyroidism 1

Term ID

DOID:0061150

Synonyms

FIH1

Definition

A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/11504667/

References

MIM:146200

Ontology

Human Disease ( DOID:0061150 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease familial isolated hypoparathyroidism

autosomal dominant disease autosomal recessive disease familial isolated hypoparathyroidism Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models