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Metadata
ID	DOID:0061150
Name	familial isolated hypoparathyroidism 1
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/
Xrefs	MIM:146200
Synonyms	FIH1 [EXACT]
Parent Relationships	is_a familial isolated hypoparathyroidism is_a autosomal dominant disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance