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Term:hypoparathyroidism-retardation-dysmorphism syndrome
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Accession:DOID:0060348 term browser browse the term
Definition:An autosomal recessive disease characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation; it is seen among children born to consanguineous couple of Arab ethnicity. (DO)
Synonyms:exact_synonym: HRD syndrome;   HRDS;   HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY;   Hypoparathyroidism with short stature, mental retardation, and seizures;   Sanjad-Sakati syndrome
 primary_id: MESH:C537157
 alt_id: OMIM:241410;   RDO:0002938
 xref: GARD:411;   ORDO:2323
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      hypoparathyroidism-retardation-dysmorphism syndrome 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    hypoparathyroidism-retardation-dysmorphism syndrome 2
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