ONTOLOGY REPORT - ANNOTATIONS


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;   PHD Ibs;   PHD1b;   Pseudohypoparathyroidisms
 primary_id: MESH:D011547
 alt_id: RDO:0004655
 xref: GARD:10758
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pseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:8554872
RGD:11568042
RGD:11568047
RGD:11568048
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11568049
RGD:11568047
RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
Pseudohypoparathyroidism Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
RGD:7240710
pseudohypoparathyroidism type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:11554173
RGD:8554872
RGD:7240710
RGD:11568050
RGD:11568048
RGD:11568044
RGD:11568043
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
RGD:7240710
pseudopseudohypoparathyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        calcium metabolism disease 262
          pseudohypoparathyroidism 3
            Albright's hereditary osteodystrophy 2
            Pseudohypoparathyroidism Type 1C 1
            Pseudohypoparathyroidism Type 2 0
            pseudohypoparathyroidism type IB 2
            pseudopseudohypoparathyroidism 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            metal metabolism disorder 123
              pseudohypoparathyroidism 3
                Albright's hereditary osteodystrophy 2
                Pseudohypoparathyroidism Type 1C 1
                Pseudohypoparathyroidism Type 2 0
                pseudohypoparathyroidism type IB 2
                pseudopseudohypoparathyroidism 1
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