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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, hypoparathyroidism with short stature, mental retardation and seizures, Sanjad-Sakati syndrome
Xenbase Genes
:
tbce
| MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome |
Other Model Organisms: Alliance, 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)