Term Name: | pseudohypoparathyroidism type 1C |
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Synonyms: | PHP Ic |
Definition: | A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. |
Ontology: | Human Disease [DOID:0051013] ( DOID:0051013 ) |