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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hypoparathyroidism-deafness-renal disease syndrome
Summary
- Synonym
-
- Barakat syndrome
- HDR syndrome
- hypoparathyroidism, sensorineural deafness, and renal disease
- Definition
- A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060878
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P98153 | Integral membrane protein DGCR2/IDD |
