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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:pseudohypoparathyroidism
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Accession:DOID:4184 term browser browse the term
Definition:A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Synonyms:exact_synonym: PHD Ib;   PHD1b;   Pseudohypoparathyroidisms
 primary_id: MESH:D011547
 alt_id: RDO:0004655
 xref: GARD:10758;   ICD10CM:E20.1;   NCI:C99027
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
pseudohypoparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO DNA:deletions:exon
ClinVar Annotator: match by term: Pseudohypoparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8557265 More... RGD:11568042, RGD:11568047, RGD:11568048 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A
DNA:deletions:exon:multiple
DNA:splice-site mutation
OMIM
ClinVar
RGD
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... RGD:11568049, RGD:11568047 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
pseudohypoparathyroidism type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
DNA:deletion, hypomethylation
DNA:mutations:exon, intron:multiple
DNA:hypomethylation:exon, promoter
CTD
ClinVar
OMIM
RGD
PMID:1505964 PMID:9876352 PMID:11029463 PMID:11784876 PMID:12024004 More... RGD:11568050, RGD:11568048, RGD:11568044, RGD:11568043 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B OMIM
ClinVar
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link
Pseudohypoparathyroidism Type IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C OMIM
ClinVar
PMID:21488135 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:9506752 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        Metabolic Bone Diseases 389
          pseudohypoparathyroidism 4
            Albright's hereditary osteodystrophy 2
            Pseudohypoparathyroidism Type IC 1
            Pseudohypoparathyroidism Type II 0
            pseudohypoparathyroidism type IB 2
            pseudopseudohypoparathyroidism 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            metal metabolism disorder 140
              pseudohypoparathyroidism 4
                Albright's hereditary osteodystrophy 2
                Pseudohypoparathyroidism Type IC 1
                Pseudohypoparathyroidism Type II 0
                pseudohypoparathyroidism type IB 2
                pseudopseudohypoparathyroidism 1
paths to the root