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DOID:0060348 - hypoparathyroidism-retardation-dysmorphism syndrome
Disease Ontology 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.
Synonyms: HRD syndrome, Sanjad-Sakati syndrome, hypoparathyroidism with short stature, mental retardation and seizures,
Echinobase Genes
:
tbce
| MIM:241410 - hypoparathyroidism-retardation-dysmorphism syndrome; hrd |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)