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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:Methylenetetrahydrofolate Reductase Deficiency
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Accession:DOID:9001648 term browser browse the term
Synonyms:exact_synonym: HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY;   HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY;   Homocystinuria due to MTHFR Deficiency
 narrow_synonym: MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE
 primary_id: MESH:C537357
 alt_id: OMIM:236250
 xref: NCI:C84524
For additional species annotation, visit the Alliance of Genome Resources.


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Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 PMID:7647779 PMID:7726158 PMID:7741859 PMID:7920641 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8940272 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545395 PMID:9545406 PMID:9737770 PMID:9781030 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10551815 PMID:10677336 PMID:10732818 PMID:10767000 PMID:10869114 PMID:10923034 PMID:10930360 PMID:10958762 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11590551 PMID:11742092 PMID:11752418 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:11938441 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12673793 PMID:12733064 PMID:12796225 PMID:12840091 PMID:12915598 PMID:14647408 PMID:15048559 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15543147 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:15951337 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16244782 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17409006 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18523009 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20236116 PMID:20356773 PMID:20490923 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:21778025 PMID:22143415 PMID:22838948 PMID:22887477 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24033266 PMID:24241962 PMID:24637499 PMID:24797679 PMID:24997712 PMID:25007187 PMID:25024447 PMID:25065700 PMID:25079578 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25736335 PMID:25741868 PMID:25778468 PMID:25856670 PMID:26014925 PMID:26025547 PMID:26872964 PMID:26898294 PMID:27399166 PMID:27743313 PMID:27768236 PMID:28492532 PMID:28696419 PMID:29391032 PMID:29683944 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          homocystinuria 12
            Methylenetetrahydrofolate Reductase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          nutrition disease 888
            Malnutrition 196
              nutritional deficiency disease 187
                Avitaminosis 112
                  Vitamin B Deficiency 69
                    hyperhomocysteinemia 48
                      homocystinuria 12
                        Methylenetetrahydrofolate Reductase Deficiency 1
paths to the root