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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:methylmalonic acidemia
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Accession:DOID:14749 term browser browse the term
Definition:An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)
Synonyms:exact_synonym: isolated methylmalonic acidemia;   methylmalonic aciduria;   methylmalonicaciduria due to methylmalonic CoA mutase deficiency
 primary_id: MESH:C537358
 xref: GARD:7033;   NCI:C98986
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
methylmalonic acidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:21785126 PMID:21841779 PMID:25741868 PMID:26915364 PMID:28492532 PMID:29858964 PMID:30041674 PMID:30740739 PMID:31376476 NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Cavin1 caveolae associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr10:88,862,513...88,874,495
Ensembl chr10:88,860,733...88,874,528
JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 2:187,322,416...187,326,794
Ensembl chr 2:184,882,969...184,883,505
JBrowse link
G Cycs cytochrome c, somatic ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:80,331,226...80,333,326
Ensembl chr 4:80,331,227...80,333,326
JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 3:43,223,892...43,359,069
Ensembl chr 3:43,255,567...43,359,074
JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar NCBI chr 1:125,229,487...125,252,692
Ensembl chr 1:125,229,469...125,252,666
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia
ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia
ClinVar PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:28492532 PMID:28497574 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:12471062 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17410422 PMID:17957493 PMID:19625202 PMID:20301409 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:26589311 PMID:28492532 PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 PMID:19370762 PMID:19700356 PMID:25398587 PMID:25672861 PMID:25689098 PMID:25741868 PMID:26825575 PMID:26990548 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmut methylmalonyl-CoA mutase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Methylmalonic acidemia
CTD
ClinVar
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:2661559 PMID:7912889 PMID:8880917 PMID:9285782 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16281286 PMID:16435223 PMID:16490061 PMID:16823967 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17445044 PMID:17470278 PMID:17957493 PMID:19088183 PMID:19375370 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:22614770 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24464670 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25741868 PMID:25750861 PMID:25771389 PMID:26270765 PMID:26420839 PMID:26454439 PMID:26615597 PMID:26790480 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27751223 PMID:28492532 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic acidemia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Septin11 septin 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr14:16,369,544...16,405,645
Ensembl chr14:16,369,544...16,452,998
JBrowse link
G Septin2 septin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 9:100,624,876...100,658,053
Ensembl chr 9:100,624,876...100,658,050
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823967 NCBI chr 4:127,552,100...127,824,970
Ensembl chr 4:127,552,101...127,824,970
JBrowse link
methylmalonic acidemia and homocysteinemia cblX type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked
ClinVar Annotator: match by OMIM:309541
OMIM
ClinVar
PMID:1870093 PMID:9536098 PMID:17576681 PMID:23000143 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25326637 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28166811 PMID:28492532 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Thap11 THAP domain containing 11 ISO ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar PMID:25741868 NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
JBrowse link
methylmalonic acidemia cblA type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY ClinVar PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblA type
ClinVar Annotator: match by term: Methylmalonic aciduria cblA type
OMIM
ClinVar
PMID:12438653 PMID:15308131 PMID:15523652 PMID:15781192 PMID:16247646 PMID:17957493 PMID:20549364 PMID:21048060 PMID:21114891 PMID:21545677 PMID:22614770 PMID:23026888 PMID:23711287 PMID:23716945 PMID:24033266 PMID:24059531 PMID:24095221 PMID:25525159 PMID:25636100 PMID:25741868 PMID:25748407 PMID:26270765 PMID:26370686 PMID:27591164 PMID:27858373 PMID:28492532 PMID:28497574 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblA type
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
methylmalonic acidemia cblB type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE
ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
OMIM
ClinVar
PMID:12471062 PMID:15044458 PMID:15523652 PMID:15781192 PMID:16311595 PMID:16410054 PMID:16439175 PMID:17176040 PMID:17410422 PMID:17948227 PMID:17957493 PMID:18251506 PMID:18452306 PMID:19625202 PMID:20301409 PMID:20549364 PMID:20556797 PMID:20696242 PMID:21048060 PMID:21604717 PMID:22614770 PMID:22695176 PMID:23674520 PMID:23707710 PMID:24033266 PMID:24059531 PMID:24516753 PMID:24813872 PMID:25525159 PMID:25741868 PMID:25760844 PMID:26589311 PMID:27591164 PMID:28492532 PMID:29039164 PMID:29197662 PMID:30022420 NCBI chr12:47,920,712...47,935,438
Ensembl chr12:47,920,743...47,935,525
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Methylmalonic aciduria cblB type
ClinVar Annotator: match by term: Methylmalonic acidemia cblB type
ClinVar PMID:16410054 PMID:23707710 PMID:24033266 PMID:25741868 PMID:27591164 PMID:28492532 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to transcobalamin receptor defect OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516 PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17768669 PMID:17853453 PMID:18164228 PMID:18245139 PMID:19370762 PMID:19700356 PMID:19760748 PMID:19767224 PMID:19836982 PMID:19914430 PMID:20219402 PMID:20549364 PMID:20610126 PMID:20631720 PMID:20652818 PMID:20924684 PMID:21055272 PMID:21114891 PMID:21228398 PMID:21835369 PMID:22447314 PMID:22560872 PMID:22642810 PMID:23580368 PMID:23757202 PMID:23825108 PMID:23837176 PMID:23954310 PMID:24033266 PMID:24126030 PMID:24210589 PMID:24577983 PMID:24599607 PMID:25388550 PMID:25398587 PMID:25511120 PMID:25668207 PMID:25672861 PMID:25687216 PMID:25689098 PMID:25741868 PMID:25772322 PMID:25809485 PMID:25894566 PMID:26149271 PMID:26270766 PMID:26283149 PMID:26287336 PMID:26412180 PMID:26563984 PMID:26658511 PMID:26825575 PMID:26979128 PMID:26990548 PMID:27252276 PMID:27383490 PMID:27751223 PMID:28151490 PMID:28218226 PMID:28327205 PMID:28454995 PMID:28492532 PMID:28693988 PMID:29042959 PMID:29294253 PMID:29379858 PMID:29396438 PMID:30157807 PMID:32164588 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar
OMIM
PMID:25741868 PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
methylmalonic aciduria and homocystinuria type cblD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD
ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA, cblH TYPE
ClinVar Annotator: match by OMIM:277410
ClinVar Annotator: match by synonym: Methylmalonic aciduria, cblD type, variant 2
OMIM
ClinVar
PMID:5524089 PMID:9536098 PMID:15292234 PMID:17576681 PMID:18385497 PMID:19058814 PMID:22156578 PMID:24033266 PMID:25741868 PMID:27252276 PMID:28492532 PMID:28939051 PMID:29620684 NCBI chr 3:35,783,511...35,801,474
Ensembl chr 3:35,783,623...35,801,614
JBrowse link
methylmalonic aciduria and homocystinuria type cblF term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM
ClinVar
CTD
PMID:19136951 PMID:21303734 PMID:22922874 PMID:23776111 PMID:24664876 PMID:25047945 PMID:25741868 PMID:26997947 PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
ClinVar Annotator: match by term: METHYLCOBALAMIN DEFICIENCY, cblG TYPE
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:250940
OMIM
ClinVar
PMID:8968736 PMID:8968737 PMID:9235907 PMID:9536098 PMID:9683607 PMID:12068375 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28210839 PMID:28492532 PMID:28666289 PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by OMIM:614857
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22922874 PMID:25741868 PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar NCBI chr19:26,196,797...26,216,981
Ensembl chr19:26,196,837...26,216,267
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY ClinVar PMID:25326637 PMID:25741868 PMID:26686600 PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:11320193 PMID:16311595 PMID:16714133 PMID:17431913 PMID:17853453 PMID:18164228 PMID:19370762 PMID:19700356 PMID:19760748 PMID:20219402 PMID:20631720 PMID:21055272 PMID:22560872 PMID:23825108 PMID:24577983 PMID:25511120 PMID:25687216 PMID:25741868 PMID:25809485 PMID:26149271 PMID:26283149 PMID:26563984 PMID:28218226 PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mmut methylmalonyl-CoA mutase treatment ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(-) TYPE
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, mut(0) TYPE
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:251000
OMIM
ClinVar
PMID:1346616 PMID:1351030 PMID:1670635 PMID:1970180 PMID:1977311 PMID:2453061 PMID:2661559 PMID:2881300 PMID:7602808 PMID:7627195 PMID:7909321 PMID:7912889 PMID:7951229 PMID:8880917 PMID:9285782 PMID:9554742 PMID:9929975 PMID:10923046 PMID:11350191 PMID:11528502 PMID:12402345 PMID:15643616 PMID:15781192 PMID:15781199 PMID:16281286 PMID:16435223 PMID:16451139 PMID:16490061 PMID:17075691 PMID:17113806 PMID:17410422 PMID:17432548 PMID:17445044 PMID:17470278 PMID:17823972 PMID:17948227 PMID:17957493 PMID:17966092 PMID:19088183 PMID:19375370 PMID:19862841 PMID:19955418 PMID:20301409 PMID:20549364 PMID:20603089 PMID:21048060 PMID:21114891 PMID:21671183 PMID:22614770 PMID:22695176 PMID:22727635 PMID:23024777 PMID:23045948 PMID:23430940 PMID:23479330 PMID:23729607 PMID:24033266 PMID:24059531 PMID:24330302 PMID:24464670 PMID:24865477 PMID:25073507 PMID:25125334 PMID:25299208 PMID:25525159 PMID:25689098 PMID:25736335 PMID:25741868 PMID:25750861 PMID:25771389 PMID:25959030 PMID:26174677 PMID:26270765 PMID:26420839 PMID:26449400 PMID:26454439 PMID:26483233 PMID:26615597 PMID:26790480 PMID:27060300 PMID:27167370 PMID:27233228 PMID:27489777 PMID:27578510 PMID:27591164 PMID:27602322 PMID:27751223 PMID:27884173 PMID:28101778 PMID:28492532 PMID:28811685 PMID:30022420, PMID:19861951, PMID:17937813, PMID:27167370 RGD:13208535, RGD:13208534, RGD:11526224 NCBI chr 9:23,323,934...23,352,144
Ensembl chr 9:23,323,936...23,352,668
JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ClinVar PMID:25741868 NCBI chr 3:81,283,137...81,292,575
Ensembl chr 3:81,283,137...81,292,573
JBrowse link

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  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            methylmalonic acidemia 29
              Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
              methylmalonic acidemia and homocysteinemia cblX type 3
              methylmalonic acidemia cblA type 3
              methylmalonic acidemia cblB type 2
              methylmalonic acidemia due to transcobalamin receptor defect 1
              methylmalonic aciduria and homocystinuria type cblC 6
              methylmalonic aciduria and homocystinuria type cblD 1
              methylmalonic aciduria and homocystinuria type cblE 0
              methylmalonic aciduria and homocystinuria type cblF 1
              methylmalonic aciduria and homocystinuria type cblG 1
              methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 5
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
            amino acid metabolic disorder 448
              organic acidemia 56
                methylmalonic acidemia 29
                  Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                  methylmalonic acidemia and homocysteinemia cblX type 3
                  methylmalonic acidemia cblA type 3
                  methylmalonic acidemia cblB type 2
                  methylmalonic acidemia due to transcobalamin receptor defect 1
                  methylmalonic aciduria and homocystinuria type cblC 6
                  methylmalonic aciduria and homocystinuria type cblD 1
                  methylmalonic aciduria and homocystinuria type cblE 0
                  methylmalonic aciduria and homocystinuria type cblF 1
                  methylmalonic aciduria and homocystinuria type cblG 1
                  methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 5
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