About   Help   FAQ
Disease Ontology Browser
hypoparathyroidism-retardation-dysmorphism syndrome (DOID:0060348)
Alliance: disease page
Synonyms: HRD syndrome; hypoparathyroidism with short stature, mental retardation and seizures; Sanjad-Sakati syndrome
Alt IDs: OMIM:241410, MESH:C537157, NCI:C133727, ORDO:2323, UMLS_CUI:C1855840
Definition: A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/12/2021
MGI 6.16
The Jackson Laboratory