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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: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;   NCI:C133727;   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 15619
    syndrome 5154
      hypoparathyroidism-retardation-dysmorphism syndrome 2
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            disease of mental health 5514
              developmental disorder of mental health 2709
                specific developmental disorder 1880
                  intellectual disability 1703
                    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.