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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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay | ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome
OMIM
CTD
ClinVar
PMID:12389028 PMID:12389029 PMID:16938882 PMID:20152369 PMID:25097779 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 18215
    syndrome 9746
      hypoparathyroidism-retardation-dysmorphism syndrome 2
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            disease of mental health 7548
              developmental disorder of mental health 4910
                specific developmental disorder 4171
                  intellectual disability 3984
                    hypoparathyroidism-retardation-dysmorphism syndrome 2
paths to the root