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Metadata
ID DOID:0051013
PURL http://purl.obolibrary.org/obo/DOID_0051013 Copy
Name pseudohypoparathyroidism type 1C
Definition A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.
https://pubmed.ncbi.nlm.nih.gov/18372789/
Xrefs

GARD:10681

MIM:612462

ORDO:79444

Subsets

DO_rare_slim

Synonyms

PHP Ic [EXACT]

Parent Relationships

is_a pseudohypoparathyroidism

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