biotinidase deficiency
type: Thing
alternate name: BTD deficiency
alternate name: deficiency of biotinidase (disorder)
alternate name: deficiency of biotinidase
alternate name: juvenile-onset multiple carboxylase deficiency
alternate name: late-onset multiple carboxylase deficiency
alternate name: multiple carboxylase deficiency, juvenile-onset
alternate name: multiple carboxylase deficiency, late-onset
description: multiple carboxylase deficiency that involves a deficiency in biotinidase
additional property: PropertyValue
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  value: Biotin structure.svg
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
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  value: multiple carboxylase deficiency
additional property: PropertyValue
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  value: disorder of other vitamins and cofactors metabolism and transport
additional property: PropertyValue
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  value: endocrinology
additional property: PropertyValue
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  value: BTD
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additional property: PropertyValue
  property ID: P4233
  value: biotinidase-deficiency
additional property: PropertyValue
  property ID: P4317
  value: 894
confidence:
  popularity graph score:
    score: 0.009
    score pct: 1
    tier: established
    components:
      sitelinks: 9
      sitelinks norm: 0.021
      unique citations: 11
      unique citations norm: 0.004
      monthly pageviews: 126
      monthly pageviews norm: 0.0
  sitelinks: 9
  unique citations: 11
  monthly pageviews: 126
  yearly pageviews: 249
  pageview trend:
    m: 2026-08
    v: 126
  pageview trend:
    m: 2026-07
    v: 25
  pageview trend:
    m: 2026-06
    v: 33
  pageview trend:
    m: 2026-05
    v: 1
  pageview trend:
    m: 2026-05
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  pageview trend:
    m: 2026-05
    v: 2
  pageview trend:
    m: 2026-05
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  pageview trend:
    m: 2026-04
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  pageview trend:
    m: 2026-04
    v: 8
  pageview trend:
    m: 2026-04
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  popularity:
    sitelinks: 9
    max: 423
    pct: 2.1
  tier: established
claims:
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    value: Biotin structure.svg
    source count: 1
    confidence: 0.2
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    source count: 0
    confidence: 0.0
    value label: class of disease
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    value: Q6934914
    source count: 2
    confidence: 0.4
    value label: multiple carboxylase deficiency
  P279:
    value: Q55787336
    source count: 1
    confidence: 0.2
    value label: disorder of other vitamins and cofactors metabolism and transport
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    source count: 1
    confidence: 0.2
    value label: rare genetic epilepsy
  P279:
    value: Q55785954
    source count: 1
    confidence: 0.2
    value label: rare hereditary metabolic disease with peripheral neuropathy
  P486:
    value: D028921
    source count: 1
    confidence: 0.2
  P492:
    value: 253260
    source count: 1
    confidence: 0.2
  P493:
    value: 277.6
    source count: 1
    confidence: 0.2
  P557:
    value: 29822
    source count: 1
    confidence: 0.2
  P646:
    value: /m/08wflp
    source count: 1
    confidence: 0.2
  P665:
    value: H01182
    source count: 0
    confidence: 0.0

value: C16.320.565.100.620.100
source count: 0
confidence: 0.0

value: C16.320.565.202.720.100
source count: 0
confidence: 0.0

value: C18.452.648.100.620.100
source count: 0
confidence: 0.0

value: C18.452.648.202.720.100
source count: 0
confidence: 0.0

value: 942055
source count: 1
confidence: 0.2

value: DOID:856
source count: 1
confidence: 0.2

value: 79241
source count: 1
confidence: 0.2

value: 277.6
source count: 1
confidence: 0.2

value: C84598
source count: 1
confidence: 0.2

value: Q162606
source count: 0
confidence: 0.0
value label: endocrinology

value: Q18021004
source count: 6
confidence: 1.0
value label: BTD

value: http://purl.obolibrary.org/obo/DOID_856
source count: 1
confidence: 0.2

value: http://identifiers.org/doid/DOID:856
source count: 1
confidence: 0.2

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source count: 0
confidence: 0.0

value: C1854698
source count: 1
confidence: 0.2

value: C0220754
source count: 1
confidence: 0.2

value: D81.810
source count: 2
confidence: 0.4

value: E53.8
source count: 1
confidence: 0.2

value: biotinidase-deficiency
source count: 0
confidence: 0.0

value: 894
source count: 1
confidence: 0.2

value: Q4099686
source count: 0
confidence: 0.0
value label: WikiProject Medicine

value: MONDO_0009665
source count: 0
confidence: 0.0

value: 2778038050
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confidence: 0.0

value: biotinidase-deficiency
source count: 0
confidence: 0.0

value: C2778038050
source count: 1
confidence: 0.2

value: Biotinidase deficiency
source count: 0
confidence: 0.0

value: DI-00189
source count: 0
confidence: 0.0

source: ClinGen
stated in qid: Q64403342
retrieved: 2019-11-06

source: ClinGen
stated in qid: Q64403342
retrieved: 2020-02-13

source: ClinGen
stated in qid: Q64403342
retrieved: 2020-08-03

source: ClinGen
stated in qid: Q64403342
retrieved: 2022-01-25

source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: OpenAlex
stated in qid: Q107507571
retrieved: 2022-01-26

source: Identifiers.org
stated in qid: Q16335166

source: Freebase Data Dumps
stated in qid: Q15241312
pub year: 2013

source: Monarch Disease Ontology release 2018-06-29
stated in qid: Q55345445
retrieved: 2018-07-28

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2020-11-30

source: UniProt
stated in qid: Q905695
retrieved: 2019-08-13

wikidata id: Q776026
domain: class_of_disease
level: standard
html url: https://4ort.xyz/entity/biotinidase-deficiency
markdown url: https://4ort.xyz/entity/biotinidase-deficiency.md
facts url summary: https://4ort.xyz/entity/biotinidase-deficiency/facts.json
facts url standard: https://4ort.xyz/entity/biotinidase-deficiency/facts.json
facts url full: https://4ort.xyz/entity/biotinidase-deficiency/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T03:57:18.917650Z
entity updated at: 2026-05-03T22:54:58.348740+00:00Z
entity created at: 2026-04-10T23:35:07.496925+00:00Z