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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial isolated hypoparathyroidism
Summary
- Synonym
-
- FIH
- Definition
- A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3.
- Super Class
- hypoparathyroidism
External Links
- Disease Ontology
- DOID:0111387
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20933 | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
