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Details
Link-It Detail - Disease - Pseudohypoparathyroidism
Debug Stats
  • ### Total Build Time: 110 ms 22.007 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 375 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1.422 KB
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 568 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.429 KB
  • CONCEPT_RELATIONSHIPS gt=67 ms Completed: 67 ms rowSize= 9.435 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 3.094 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pseudohypoparathyroidism C0033806
Definition (1)
A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Calcium Metabolism Disorders C0006705
img Bone Diseases, Metabolic C0005944
img Metal Metabolism, Inborn Errors C0025534
Children (1)
img Pseudopseudohypoparathyroidism C0033835
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Calcium Metabolism Disorders C0006705
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Metabolic C0005944
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Metal Metabolism, Inborn Errors C0025534
Relationships (20)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 2
diso_​to_​diso : 11
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 11
clinically_​similar : 2
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 2
mapped_​to : 3
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN58img genetic aspects C0017399
DISO_to_CHEM43img GTP-Binding Protein alpha Subunits, Gs C0086903
DISO_to_PHEN40img genetic aspects C0017399
DISO_to_DISO36img Complication Aspects C1171258
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_CHEM29img GTP-Binding Protein alpha Subunits, Gs C0086903
DISO_to_ANAT14img In Blood C0005768
DISO_to_ANAT12img In Blood C0005768
DISO_to_PHYS11img Genomic Imprinting C0242614
DISO_to_PHYS11img Mutation C0026882
DISO_to_DISO9img Fibrous Dysplasia, Polyostotic C0016065
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Endocrine System C0014136
DISO_to_DISOuseimg Albright's hereditary osteodystrophy C2931404
DISO_to_DISOmapped_toimg PHP IC C2932716
DISO_to_DISOmapped_toimg PHP II C2932717
DISO_to_DISOclinically_similarimg Pseudohypoparathyroidism C0033806
DISO_to_DISOmapped_toimg Pseudohypoparathyroidism Type 1B C2932715
DISO_to_DISOclinically_similarimg Pseudohypoparathyroidism type I B C0271869
DISO_to_DISOisaimg Pseudohypoparathyroidism, Type Ia C3494506
DISO_to_DISOisaimg Pseudopseudohypoparathyroidism C0033835
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanTRH7200thyrotropin-releasing hormone
img GENERIF, Score=694, Pubmed Id: 18805917, UMLKSK CUI: C0033806
HumanGPC12817glypican 1
img GENERIF, Score=1000, Pubmed Id: 15547662, UMLKSK CUI: C0033806
HumanGNAS2778GNAS complex locus
Click here to display 17 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033806Pseudohypoparathyroidism0self