Term Name: familial isolated hypoparathyroidism 1
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.
Ontology: Human Disease [DOID:0061150]   ( DOID:0061150 )

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