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hypoparathyroidism-retardation-dysmorphism syndrome
Summary
- Synonym
-
- HRD syndrome
- Sanjad-Sakati syndrome
- hypoparathyroidism with short stature, mental retardation and seizures
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060348
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
