Details of Disease | DrugMAP

General Information of Disease (ID: DISJJOWA)

Disease Name	Hypoparathyroidism, familial isolated 1
Synonyms	hypoparathyroidism familial isolated; hypoparathyroidism, autosomal dominant; hypoparathyroidism, autosomal recessive; hypoparathyroidism, familial isolated; FIH; FIH1; hypoparathyroidism, familial isolated 1
Disease Hierarchy	DIS85C84: Familial hypoparathyroidism DISJJOWA: Hypoparathyroidism, familial isolated 1
Disease Identifiers	MONDO ID MONDO_0007796 UMLS CUI C5241444 OMIM ID 146200 MedGen ID 1713884

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTH	TT6F7GZ	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTH	OTD721UF	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet. 1992 May;1(2):149-52. doi: 10.1038/ng0592-149.