ZFIN Human Disease: hypoparathyroidism-retardation-dysmorphism syndrome

OBO ID: DOID:0060348

Term Name:	hypoparathyroidism-retardation-dysmorphism syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER hypoparathyroidism-retardation-dysmorphism syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBCE	tbce	Hypoparathyroidism-retardation-dysmorphism syndrome	241410

ZEBRAFISH MODELS

Fish	Conditions	Citations
gata3^b1075/b1075 (EKW)	standard conditions	Sheehan-Rooney et al., 2013
gata3^b1075/b1075 (WIK)	standard conditions	Sheehan-Rooney et al., 2013

PHENOTYPE No data available

CITATIONS (1)