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
Accession: DOID:857
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 .
G
Btd
biotinidase
ISO
ClinVar Annotator: match by term: Biotin deficiency
ClinVar
PMID:88555 PMID:9099842 PMID:9158148 PMID:11668630 PMID:12359137 PMID:15060693 PMID:17185019 PMID:19757147 PMID:20301497 PMID:22698809 PMID:22975760 PMID:24033266 PMID:25144890 PMID:25174816 PMID:25741868 PMID:25795614 PMID:25967232 PMID:26467025 PMID:26810761 PMID:27207447 PMID:27329734 PMID:27657684 PMID:28492532 PMID:28498829 PMID:29359854 PMID:29728376 PMID:30551056 PMID:34136440 PMID:35195902 More...
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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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 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:16199547 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:23644139 PMID:23971085 PMID:24033266 PMID:24066991 PMID:24123366 PMID:24516753 PMID:24525934 PMID:24797656 PMID:24932929 PMID:25087612 PMID:25144890 PMID:25174816 PMID:25333069 PMID:25423671 PMID:25741868 PMID:25754625 PMID:25795614 PMID:25967232 PMID:25972378 PMID:26117549 PMID:26203071 PMID:26334177 PMID:26361991 PMID:26467025 PMID:26589311 PMID:26635394 PMID:26656798 PMID:26810761 PMID:26990548 PMID:27207447 PMID:27329734 PMID:27378695 PMID:27533158 PMID:27535533 PMID:27625817 PMID:27629047 PMID:27657684 PMID:27760515 PMID:27845546 PMID:28220409 PMID:28281033 PMID:28492532 PMID:28498829 PMID:28649532 PMID:28649539 PMID:28682309 PMID:28971021 PMID:29353266 PMID:29359854 PMID:29728376 PMID:29995633 PMID:30551056 PMID:30616616 PMID:30912303 PMID:31035122 PMID:31208052 PMID:31337602 PMID:31618753 PMID:31801038 PMID:31973013 PMID:31980526 PMID:32300527 PMID:33016994 PMID:33123633 PMID:33189081 PMID:33217065 PMID:33223529 PMID:33312878 PMID:34136440 PMID:34166817 PMID:34374989 PMID:34448386 PMID:35195902 PMID:35627187 PMID:36684547 More...
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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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
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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
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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
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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
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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
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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
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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
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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
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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 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:16199547 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:21615476 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:29701239 PMID:32219826 PMID:32358368 PMID:32727382 PMID:33123633 PMID:12124727 More...
RGD:1302549
NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
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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
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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
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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
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