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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:A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Synonyms:exact_synonym: Combined Carboxylase Deficiencies;   Combined Carboxylase Deficiency;   Multiple Carboxylase Deficiencies
 primary_id: MESH:D009100;   RDO:0006147
 xref: GARD:3824;   ICD10CM:D81.81
For additional species annotation, visit the Alliance of Genome Resources.


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biotinidase 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: Biotinidase deficiency
ClinVar Annotator: match by OMIM:253260
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:88555 PMID:1668630 PMID:9099842 PMID:9158148 PMID:9232193 PMID:9375914 PMID:9396567 PMID:9506660 PMID:9536098 PMID:9654207 PMID:9705240 PMID:10206677 PMID:10394193 PMID:10400129 PMID:10655158 PMID:10801053 PMID:10801060 PMID:11313766 PMID:11380987 PMID:11668630 PMID:11865279 PMID:12227467 PMID:12359137 PMID:12618081 PMID:14628140 PMID:14707518 PMID:15059618 PMID:15060693 PMID:15776412 PMID:16435182 PMID:17185019 PMID:17382128 PMID:17576681 PMID:18645204 PMID:18845537 PMID:19728141 PMID:19757147 PMID:20083419 PMID:20224900 PMID:20301497 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:21752405 PMID:21907891 PMID:22011816 PMID:22106832 PMID:22698809 PMID:22863189 PMID:22975760 PMID:22995991 PMID:23481307 PMID:23644139 PMID:23971085 PMID:24033266 PMID:24066991 PMID:24516753 PMID:24525934 PMID:24797656 PMID:24932929 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 PMID:25741868 PMID:25754625 PMID:25967232 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26589311 PMID:26635394 PMID:26656798 PMID:26810761 PMID:27207447 PMID:27329734 PMID:27533158 PMID:27535533 PMID:27625817 PMID:27629047 PMID:27657684 PMID:27760515 PMID:27845546 PMID:28492532 PMID:28498829 PMID:28682309 PMID:28971021 PMID:29353266 PMID:29359854 PMID:29728376 PMID:29995633 PMID:30912303 PMID:31337602 PMID:33223529 NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
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 chr11:33,813,041...33,815,418
Ensembl chr11:33,845,463...33,847,793
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,909,417...33,917,674
Ensembl chr11:33,909,439...33,917,674
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,929,142...34,027,447
Ensembl chr11:33,925,498...34,027,435
JBrowse link
G Hlcs holocarboxylase synthetase ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by OMIM:253270
ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency
OMIM
ClinVar
PMID:6133032 PMID:7842009 PMID:8319716 PMID:8541348 PMID:8817339 PMID:9396568 PMID:9536098 PMID:9630604 PMID:9870216 PMID:10068510 PMID:10190325 PMID:10590022 PMID:10653324 PMID:11124959 PMID:11185745 PMID:11735028 PMID:12124727 PMID:12633764 PMID:15635070 PMID:16134170 PMID:16231399 PMID:17274881 PMID:17407983 PMID:17576681 PMID:18429047 PMID:18442489 PMID:18974016 PMID:19157941 PMID:19695181 PMID:19806568 PMID:20026029 PMID:20095979 PMID:21874615 PMID:21894551 PMID:22027809 PMID:24033266 PMID:24085707 PMID:24099927 PMID:24215330 PMID:24239178 PMID:25087612 PMID:25525159 PMID:25690727 PMID:25741868 PMID:26938784 PMID:27114915 PMID:27604308 PMID:28492532, PMID:12124727 RGD:1302549 NCBI chr11:34,357,372...34,537,798
Ensembl chr11:34,352,287...34,526,931
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,051,928...34,094,697
Ensembl chr11:34,051,993...34,094,698
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:33,781,869...33,803,121
Ensembl chr11:33,781,870...33,801,999
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency ClinVar PMID:28492532 NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            multiple carboxylase deficiency 10
              biotinidase deficiency + 1
              holocarboxylase synthetase deficiency 9
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            carbohydrate metabolic disorder 459
              multiple carboxylase deficiency 10
                biotinidase deficiency + 1
                holocarboxylase synthetase deficiency 9
paths to the root