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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:familial isolated hypoparathyroidism
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Accession:DOID:0111387 term browser browse the term
Definition:A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)
Synonyms:exact_synonym: FIH
 narrow_synonym: hypoparathyroidism, autosomal dominant;   hypoparathyroidism, autosomal recessive
 primary_id: MESH:C537156
 xref: OMIM:PS146200



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familial isolated hypoparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD
ClinVar
PMID:1706284 PMID:8636323 PMID:10023897 PMID:10217111 PMID:10912749 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Familial isolated hypoparathyroidism ClinVar PMID:15728199 PMID:16199547 PMID:18182452 PMID:20190276 PMID:21642377 More... NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
JBrowse link
G Pth parathyroid hormone ISO DNA:missense mutation:cds:p.C18R (human)
ClinVar Annotator: match by term: Familial isolated hypoparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1302009 PMID:1425431 PMID:18784115 PMID:24033266 PMID:25741868 More... RGD:1598941 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
Familial Isolated Hypoparathyroidism 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated 1 OMIM
ClinVar
PMID:2212001 PMID:3005800 PMID:10523031 PMID:18056632 PMID:24033266 More... NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
Familial Isolated Hypoparathyroidism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, familial isolated, 2 OMIM
ClinVar
PMID:11602629 PMID:15728199 PMID:15863676 PMID:18583467 PMID:18712808 More... NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      endocrine system disease 6734
        parathyroid gland disease 1040
          hypoparathyroidism 171
            familial isolated hypoparathyroidism 3
              Familial Isolated Hypoparathyroidism 1 1
              Familial Isolated Hypoparathyroidism 2 1
paths to the root