Search Ontology:
Human Disease

hypoparathyroidism-retardation-dysmorphism syndrome

Term ID
DOID:0060348
Synonyms
  • HRD syndrome
  • hypoparathyroidism with short stature, mental retardation and seizures
  • Sanjad-Sakati syndrome
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. (2)
References
Ontology
Human Disease   ( DOID:0060348 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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