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Details
Link-It Detail - Disease - Pseudopseudohypoparathyroidism
Debug Stats
  • ### Total Build Time: 77 ms 20.602 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 400 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=3 ms Completed: 3 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=8 ms Completed: 8 ms rowSize= 5.411 KB
  • CONCEPT_RELATIONSHIPS gt=58 ms Completed: 58 ms rowSize= 12.477 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pseudopseudohypoparathyroidism C0033835
Definition (1)
A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Pseudohypoparathyroidism C0033806
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Pseudohypoparathyroidism C0033806
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Pseudohypoparathyroidism C0033806
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Pseudohypoparathyroidism C0033806
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Pseudohypoparathyroidism C0033806
Relationships (28)

Relation Types:
diso_​to_​diso : 27
diso_​to_​phen : 1


Relationships:
none : 3
expanded_​form_​of : 1
manifestation_​of : 24
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_DISO4img Ossification, Heterotopic C0029396
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmanifestation_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmanifestation_ofimg Cataract C0086543
DISO_to_DISOmanifestation_ofimg Caused by inheritance of the mutation on the paternal allele (imprinting) C2675909
DISO_to_DISOmanifestation_ofimg Caused by mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide gene (GNAS, 139320.0002) C2675908
DISO_to_DISOmanifestation_ofimg Cheeks full C1866231
DISO_to_DISOmanifestation_ofimg Cognitive deficits C0679466
DISO_to_DISOmanifestation_ofimg DENTITION DELAY C0239174
DISO_to_DISOmanifestation_ofimg Dental Enamel Hypoplasia C0011351
DISO_to_DISOmanifestation_ofimg FACE MOON SHAPED C0239479
DISO_to_DISOmanifestation_ofimg Low nasal bridge C1837734
DISO_to_DISOmanifestation_ofimg Mental retardation (less common) C1865331
DISO_to_DISOmanifestation_ofimg No hormone resistance C2675905
DISO_to_DISOmanifestation_ofimg Normal urinary cyclic AMP response to PTH administration C2675906
DISO_to_DISOmanifestation_ofimg Nystagmus C0028738
DISO_to_DISOmanifestation_ofimg Obesity C0028754
DISO_to_DISOmanifestation_ofimg Osteoporosis C0029456
DISO_to_DISOexpanded_form_ofimg Pseudopseudohypoparathyroidism C0033835
DISO_to_DISOmanifestation_ofimg Reduced erythrocyte Gs activity C2675907
DISO_to_DISOmanifestation_ofimg See also pseudohypoparathyroidism type Ia (103580) C1864109
DISO_to_DISOmanifestation_ofimg Short metacarpals (especially 4th and 5th) C1863185
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0033835Pseudopseudohypoparathyroidism0self