Visualize Submit Comment
Metadata
ID DOID:0060348
Name hypoparathyroidism-retardation-dysmorphism syndrome
Definition An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity.
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

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 autosomal recessive disease

Add an item to the term tracker