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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:Albright's hereditary osteodystrophy
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Accession:DOID:0080053 term browser browse the term
Definition:An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. (DO)
Synonyms:exact_synonym: Albright hereditary osteodystrophy;   Albright hereditary osteodystrophy with multiple hormone resistance;   PHP IA;   PHP1A;   pseudohypoparathyroidism type 1A;   pseudohypoparathyroidism, type IA
 narrow_synonym: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
 primary_id: OMIM:103580
 xref: GARD:5770;   NCI:C118434
For additional species annotation, visit the Alliance of Genome Resources.



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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:splice-site mutation
DNA:deletions:exon:multiple
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
OMIM
ClinVar
RGD
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 More... RGD:11568047, RGD:11568049 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    Nutritional and Metabolic Diseases 6821
      disease of metabolism 6821
        Metabolic Bone Diseases 391
          pseudohypoparathyroidism 4
            Albright's hereditary osteodystrophy 2
Path 2
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        genetic disease 11398
          inherited metabolic disorder 4722
            metal metabolism disorder 143
              pseudohypoparathyroidism 4
                Albright's hereditary osteodystrophy 2
paths to the root