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Details
Link-It Detail - Disease - Hyperthyroxinemia, Familial Dysalbuminemic
Debug Stats
  • ### Total Build Time: 64 ms 9.139 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 454 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 552 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=12 ms Completed: 12 ms rowSize= 995 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.829 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 2.917 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hyperthyroxinemia, Familial Dysalbuminemic C0342185
Dysalbuminemic Hyperthyroxinemia, Familial
Definition (1)
An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Hyperthyroxinemia C0020551
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Endocrine System Diseases C0014130img Thyroid Diseases C00401284img Hyperthyroxinemia C0020551
Relationships (4)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 2


Relationships:
none : 2
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT2img In Blood C0005768
DISO_to_CHEM2img Thyroxine C0040165
DISO_to_DISOmapped_toimg DYSALBUMINEMIC HYPERTHYROXINEMIA C1863119
DISO_to_DISOpermuted_term_ofimg Dysalbuminemic Hyperthyroxinemia, Familial C0342185
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342185Hyperthyroxinemia, Familial Dysalbuminemic0self