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hypoparathyroidism-retardation-dysmorphism syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060348

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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hypoparathyroidism-retardation-dysmorphism syndrome

Synonyms
  • HRD syndrome
  • Sanjad-Sakati syndrome
  • hypoparathyroidism with short stature, mental retardation and seizures
database cross reference
Subsets

DO_rare_slim, NCIthesaurus

created by

elvira

creation date

2015-06-19T20:05:16Z

has obo namespace

disease_ontology

id

DOID:0060348