Search Ontology:
Human Disease
pseudohypoparathyroidism type 1C
- Term ID
- DOID:0051013
- Synonyms
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- PHP Ic
- 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/
- References
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- GARD:10681
- MIM:612462
- ORDO:79444
- Ontology
- Human Disease ( DOID:0051013 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models