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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 the TBCE gene 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP 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 term: Hypoparathyroidism-retardation-dysmorphism syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G LOC126806060 MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 IAGP ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,442,231...235,443,430 JBrowse link
G TBCE tubulin folding cofactor E IAGP
EXP		 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 term: Hypoparathyroidism-retardation-dysmorphism syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:12389028 PMID:12389029 PMID:16199547 PMID:16938882 More... NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    syndrome 18144
      hypoparathyroidism-retardation-dysmorphism syndrome 3
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        central nervous system disease 23607
          brain disease 22046
            disease of mental health 17231
              developmental disorder of mental health 12025
                specific developmental disorder 7420
                  intellectual disability 7177
                    hypoparathyroidism-retardation-dysmorphism syndrome 3
paths to the root