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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:holocarboxylase synthetase deficiency
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Accession:DOID:859 term browser browse the term
Definition:A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (DO)
Synonyms:exact_synonym: Early Onset Biotin Responsive Multiple Carboxylase Deficiency;   Early Onset Combined Carboxylase Deficiency;   HLCS Deficiencies;   HLCS Deficiency;   Holocarboxylase Synthetase Deficiencies;   Infantile Multiple Carboxylase Deficiency;   Multiple Carboxylase Deficiency, Early Onset;   Multiple Carboxylase Deficiency, Neonatal Form;   biotin-(propionyl-CoA-carboxylase) ligase deficiency;   multiple carboxylase deficiency - neonatal onset
 primary_id: MESH:D028922
 alt_id: OMIM:253270
 xref: GARD:2721;   ICD10CM:D81.818;   NCI:C98842;   NCI:C99247
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
holocarboxylase synthetase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbr1 carbonyl reductase 1 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:32,860,571...32,862,981
Ensembl chr11:32,908,950...32,911,393
Ensembl chr11:32,908,950...32,911,393 		JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931 		JBrowse link
G Hlcs holocarboxylase synthetase ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 More... RGD:1302549 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222 		JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,151,906...33,194,650
Ensembl chr11:33,152,025...33,194,646 		JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          amino acid metabolic disorder 1525
            multiple carboxylase deficiency 13
              holocarboxylase synthetase deficiency 9
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              multiple carboxylase deficiency 13
                holocarboxylase synthetase deficiency 9
paths to the root