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, ORDO:2323, UMLS_CUI:C1855840
Definition: An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
10/10/2017
MGI 6.10
The Jackson Laboratory