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| Term | hypoparathyroidism-retardation-dysmorphism syndrome | ID (Ontology) | DOID:0060348 (Human Disease) | |||||||||||||||||||||||
| 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. | |||||||||||||||||||||||||
| Also Known As | "HRD syndrome" ; "hypoparathyroidism with short stature, mental retardation and seizures" ; "Sanjad-Sakati syndrome" | |||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| hypoparathyroidism-retardation-dysmorphism syndrome 10 rec. |
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autosomal recessive disease syndrome |
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GARD:411 MESH:C537157 MIM:241410 NCI:C133727 ORDO:2323 SNOMEDCT_US_2023_03_01:1197148005 UMLS_CUI:C1855840 |
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