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Details
Link-It Detail - Disease - Biotinidase Deficiency
Debug Stats
  • ### Total Build Time: 25 ms 22.774 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 533 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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Disease (1)
Biotinidase Deficiency C0220754
Definition (1)
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Multiple Carboxylase Deficiency C0026755
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Multiple Carboxylase Deficiency C0026755
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Multiple Carboxylase Deficiency C0026755
Relationships (33)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 30
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 2
manifestation_​of : 26
related_​to : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM12img Biotin C0005575
DISO_to_CHEMassociated_withimg Biotinidase C0053653
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ACIDURIA, ORGANIC C0241775
DISO_to_DISOmanifestation_ofimg Age of onset usually 1 week to 2 years C1854703
DISO_to_DISOmanifestation_ofimg Alopecia C0002170
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOrelated_toimg Biotinidase Deficiency C0220754
DISO_to_DISOmanifestation_ofimg Blind Vision C0456909
DISO_to_DISOmanifestation_ofimg CONJUNCTIVITIS C0009763
DISO_to_DISOmanifestation_ofimg Caused by mutation in the biotinidase gene (BTD, 253260.0001) C3151518
DISO_to_DISOmanifestation_ofimg Dermatitis, Seborrheic C0036508
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Diarrhea C0011991
DISO_to_DISOmanifestation_ofimg Diffuse cerebellar atrophy C1854699
DISO_to_DISOmanifestation_ofimg Diffuse cerebral atrophy C0598275
DISO_to_DISOmanifestation_ofimg Disease, Infectious Skin C0037278
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOmanifestation_ofimg Exanthema C0015230
DISO_to_DISOmanifestation_ofimg Feeding difficulties C0232466
DISO_to_DISOmanifestation_ofimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOmanifestation_ofimg Ketoacidoses, Metabolic C1854704
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanBTD686biotinidase
img GENERIF, Score=1000, Pubmed Id: 18645204, UMLKSK CUI: C0220754
img GENERIF, Score=1000, Pubmed Id: 15776412, UMLKSK CUI: C0220754
img GAD, Score=1000, Pubmed Id: 12618081, UMLKSK CUI: C0220754
img GENERIF, Score=1000, Pubmed Id: 11668630, UMLKSK CUI: C0220754
img OMIM, Score=1000, UMLKSK CUI: C0220754
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220754Biotinidase Deficiency0self