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

• GARD:411
• MESH:C537157
• NCI:C133727
• OMIM:241410
• ORDO:2323
• SNOMEDCT_US_2023_03_01:1197148005
• UMLS_CUI:C1855840

Ontology

Human Disease   ( DOID:0060348 )