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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism retardation dysmorphism syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
ClinVar Annotator: match by OMIM:241410
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12389028 PMID:12389029 PMID:16938882 PMID:25097779 PMID:25741868 More... NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      hypoparathyroidism-retardation-dysmorphism syndrome 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    hypoparathyroidism-retardation-dysmorphism syndrome 2
paths to the root