OBO ID: DOID:0060348 |
Term Name: | hypoparathyroidism-retardation-dysmorphism syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060348 ) |
OTHER hypoparathyroidism-retardation-dysmorphism syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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gata3b1075/b1075 (EKW) | standard conditions | Sheehan-Rooney et al., 2013 |
gata3b1075/b1075 (WIK) | standard conditions | Sheehan-Rooney et al., 2013 |
PHENOTYPE
No data available
CITATIONS (1)
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