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ONTOLOGY REPORT - ANNOTATIONS


Term:hypoparathyroidism-retardation-dysmorphism syndrome
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Accession:DOID:0060348 term browser browse the term
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 TBCE on chromosome 1q42.3. (DO)
Synonyms:exact_synonym: HRD syndrome;   HRDS;   Hypoparathyroidism with short stature, mental retardation, and seizures;   Sanjad-Sakati syndrome;   congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay
 primary_id: MESH:C537157
 alt_id: OMIM:241410
 xref: GARD:411;   NCI:C133727;   ORDO:2323
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hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15984
    syndrome 6094
      hypoparathyroidism-retardation-dysmorphism syndrome 2
Path 2
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  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        central nervous system disease 8839
          brain disease 8128
            disease of mental health 5761
              developmental disorder of mental health 2914
                specific developmental disorder 2081
                  intellectual disability 1922
                    hypoparathyroidism-retardation-dysmorphism syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.