hypoparathyroidism-retardation-dysmorphism syndrome

Summary

DOID:0060348 - hypoparathyroidism-retardation-dysmorphism syndrome

Disease Ontology 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 the TBCE gene on chromosome 1q42.3.

Synonyms: HRD syndrome, Sanjad-Sakati syndrome, hypoparathyroidism with short stature, mental retardation and seizures,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbce

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

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), syndrome (is_a)