pseudohypoparathyroidism type 1C Disease Ontology Browser

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Disease Ontology Browser

pseudohypoparathyroidism type 1C (DOID:0051013)
Alliance: disease page
Synonyms: PHP Ic
Alt IDs: OMIM:612462, ORDO:79444
Definition: A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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