Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:9099842, PMID:9158148, PMID:9232193, PMID:9375914, PMID:9396567, PMID:9506660, 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:13680408, PMID:14628140, PMID:14707518, PMID:15059618, PMID:15060693, PMID:15776412, PMID:16435182, PMID:17185019, PMID:17382128, PMID:18645204, PMID:18845537, PMID:19728141, PMID:19757147, PMID:20083419, PMID:20224900, PMID:20539236, PMID:20549359, PMID:20556795, PMID:20981092, PMID:21228398, PMID:21752405, PMID:21907891, PMID:22011816, PMID:22106832, PMID:22241090, 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:26577040, PMID:26589311, PMID:26635394, PMID:26656798, PMID:26810761, PMID:27014582, PMID:27207447, PMID:27329734, PMID:27533158, PMID:27535533, PMID:27625817, PMID:27629047, PMID:27657684, PMID:27760515, PMID:27845546, PMID:28492532, PMID:28498829, PMID:28971021, PMID:29353266, PMID:29359854, PMID:29995633, PMID:30311386, PMID:30912303, PMID:31337602 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: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:18429047, PMID:18442489, PMID:18974016, PMID:19157941, PMID:19695181, 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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            multiple carboxylase deficiency 10
              biotinidase deficiency + 1
              holocarboxylase synthetase deficiency 9
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              multiple carboxylase deficiency 10
                biotinidase deficiency + 1
                holocarboxylase synthetase deficiency 9
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.