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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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoparathyroidism		 CTD
ClinVar		 PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352 PMID:10487696 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:21525160 PMID:21747923 PMID:21823526 PMID:23533243 PMID:23796510 PMID:24088041 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29072892, PMID:10487696, PMID:11600516, PMID:18812479 RGD:11568042, RGD:11568047, RGD:11568048 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		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 DNA:deletions:exon:multiple
DNA:splice-site mutation
ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS		 OMIM
ClinVar		 PMID:8072545, PMID:11095461, PMID:11600516 RGD:11568049, RGD:11568047 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:181,663,425...181,674,181 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 1B
DNA:deletion, hypomethylation
DNA:mutations:exon, intron:multiple
DNA:hypomethylation:exon, promoter		 CTD
ClinVar
OMIM		 PMID:1505964 PMID:9876352 PMID:11029463 PMID:11784876 PMID:12024004 PMID:15711092 PMID:18553568 PMID:20015054 PMID:20427508 PMID:21836370 PMID:23796510 PMID:23884777 PMID:24728327 PMID:25219572 PMID:25741868 PMID:29072892, PMID:22378814, PMID:18812479, PMID:12621129, PMID:15537666 RGD:11568050, RGD:11568048, RGD:11568044, RGD:11568043 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar
OMIM		 PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732 		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: Pseudohypoparathyroidism type 1C ClinVar
OMIM		 PMID:21488135 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		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
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:11095461 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12624854 PMID:15711092 PMID:18553568 PMID:23796510 PMID:25219572 PMID:25594858 PMID:25741868 PMID:25802881 PMID:28708303 PMID:29072892 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        Metabolic Bone Diseases 378
          pseudohypoparathyroidism 3
            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 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            metal metabolism disorder 118
              pseudohypoparathyroidism 3
                Albright's hereditary osteodystrophy 2
                Pseudohypoparathyroidism Type IC 1
                Pseudohypoparathyroidism Type II 0
                pseudohypoparathyroidism type IB 2
                pseudopseudohypoparathyroidism 1
paths to the root