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Metadata
ID DOID:0060348
Name hypoparathyroidism-retardation-dysmorphism 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.
https://www.ncbi.nlm.nih.gov/pubmed/15645691, https://www.ncbi.nlm.nih.gov/pubmed/24339556
Xrefs

GARD:411

MESH:C537157

NCI:C133727

OMIM:241410

ORDO:2323

SNOMEDCT_US_2023_03_01:1197148005

UMLS_CUI:C1855840

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

HRD syndrome [EXACT]

hypoparathyroidism with short stature, mental retardation and seizures [EXACT]

Sanjad-Sakati syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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