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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D028922
http://purl.bioontology.org/ontology/MESH/D028922
|
|---|---|
| Preferred Name | Holocarboxylase Synthetase Deficiency |
| Definitions |
The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase).
|
| Synonyms |
Carboxylase Deficiency, Multiple, Neonatal Form
Holocarboxylase Synthetase Deficiencies
Early Onset Biotin Responsive Multiple Carboxylase Deficiency
Deficiency, HLCS
Deficiencies, Holocarboxylase Synthetase
Deficiency, Holocarboxylase Synthetase
HLCS Deficiencies
Deficiency, Multiple Carboxylase, Neonatal Form
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early Onset Combined Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency, Neonatal Form
Deficiencies, HLCS
HLCS Deficiency
Early-Onset Combined Carboxylase Deficiency
Infantile Multiple Carboxylase Deficiency
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase). |
|---|---|
| altLabel |
Carboxylase Deficiency, Multiple, Neonatal Form
Holocarboxylase Synthetase Deficiencies
Early Onset Biotin Responsive Multiple Carboxylase Deficiency
Deficiency, HLCS
Deficiencies, Holocarboxylase Synthetase
Deficiency, Holocarboxylase Synthetase
HLCS Deficiencies
Deficiency, Multiple Carboxylase, Neonatal Form
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
Early Onset Combined Carboxylase Deficiency
Multiple Carboxylase Deficiency, Early Onset
Multiple Carboxylase Deficiency, Neonatal Form
Deficiencies, HLCS
HLCS Deficiency
Early-Onset Combined Carboxylase Deficiency
Infantile Multiple Carboxylase Deficiency
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|
| prefLabel | Holocarboxylase Synthetase Deficiency
|
| Machine permutation | 2002
|
| HN | 2002
|
| type | |
| tui | T047
|
| TERMUI |
T443044
T440281
T841669
T841668
T841671
T442105
T443043
T843582
T812241
T446813
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| TH |
OMIM (2013)
NLM (2002)
GHR (2014)
|
| MMR | 20130708
|
| notation | D028922
|
| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| FX | D001710
|
| DX | 20020101
|
| cui | C0268581
|
| DC | 1
|
| MN |
C18.452.648.202.720.380
C18.452.648.100.620.380
C16.320.565.100.620.380
C16.320.565.202.720.380
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 20010322
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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