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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:multiple carboxylase deficiency
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Accession:DOID:857 term browser browse the term
Definition:An amino acid metabolic disorder that involves failures of carboxylation enzymes. (DO)
Synonyms:exact_synonym: Combined Carboxylase Deficiency;   combined carboxylase deficiencies;   multiple carboxylase deficiencies
 primary_id: MESH:D009100
 xref: GARD:3824;   ICD10CM:D81.81
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
biotin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:11668630 PMID:12359137 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
biotinidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btd biotinidase ISO
ISS
ClinVar Annotator: match by term: Biotinidase deficiency | ClinVar Annotator: match by term: Late-onset biotin-responsive multiple carboxylase deficiency
OMIM:253260
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:25741868 NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
JBrowse link
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 21155
    Nutritional and Metabolic Diseases 8231
      disease of metabolism 8231
        inherited metabolic disorder 6208
          amino acid metabolic disorder 1524
            multiple carboxylase deficiency 13
              biotinidase deficiency + 4
              holocarboxylase synthetase deficiency 9
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            carbohydrate metabolic disorder 3264
              multiple carboxylase deficiency 13
                biotinidase deficiency + 4
                holocarboxylase synthetase deficiency 9
paths to the root