Entry Search - 516000 516005 516006 516020 516040 516050 540000 590020 590030 590040 590050 590055 590060 590070 590080 590085 590095 590105

Search: '516000 516005 516006 516020 516040 516050 540000 590020 590030 590040 590050 590055 590060 590070 590080 590085 590095 590105 (Search in: MIM number)'

Results: 18 entries.

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* 516000. COMPLEX I, SUBUNIT ND1; MTND1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3, INCLUDED; MC1DM3, INCLUDED
Matching terms: 516000
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 26929004, 39925003, 49049000, 51178009, 58610003 ICD10CM: E88.41, G20, G20.A1, G30, G30.9, H47.22 ICD9CM: 331.0, 332, 332.0, 798.0

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* 516005. COMPLEX I, SUBUNIT ND5; MTND5
Matching terms: 516005
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Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 230426003, 39925003, 58610003 ICD10CM: E88.41, E88.42, H47.22

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* 516006. COMPLEX I, SUBUNIT ND6; MTND6
Matching terms: 516006
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 39925003, 58610003, 89439007 ICD10CM: E88.41, H47.22

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* 516020. CYTOCHROME b OF COMPLEX III; MTCYB
Matching terms: 516020
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 267044007, 447292006, 58610003 ICD10CM: H47.22

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* 516040. COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2
Matching terms: 516040
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 67434000

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* 516050. CYTOCHROME c OXIDASE III; MTCO3
Matching terms: 516050
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 58610003, 67434000 ICD10CM: H47.22

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# 540000. MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS
Matching terms: 540000
► ICD+ ► Links

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Primary Mitochondrial Diso… MELAS Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

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ICD+
SNOMEDCT: 39925003 ICD10CM: E88.41 ORPHA: 550 DO: 3687

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* 590020. TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC
Matching terms: 590020
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG

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ICD+
SNOMEDCT: 39925003 ICD10CM: E88.41

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* 590030. TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ
Matching terms: 590030
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG

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ICD+
SNOMEDCT: 129565002, 39925003 ICD10CM: E88.41, G72.9, M60-M63, M62.9 ICD9CM: 359.9

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10:

* 590040. TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
Matching terms: 590040
► ICD+ ► Links

Links
Testing GTR	Genome Ensembl MITOMAP NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG

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ICD+
SNOMEDCT: 472316006

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Search: 516000 516005 516006 516020 516040 516050 540000 590020 590030 590040 590050 590055 590060 590070 590080 590085 590095 590105 (Search in: MIM number)

Results: 18 entries.

* 516000. COMPLEX I, SUBUNIT ND1; MTND1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3, INCLUDED; MC1DM3, INCLUDED
Matching terms: 516000

* 516005. COMPLEX I, SUBUNIT ND5; MTND5
Matching terms: 516005

* 516006. COMPLEX I, SUBUNIT ND6; MTND6
Matching terms: 516006

* 516020. CYTOCHROME b OF COMPLEX III; MTCYB
Matching terms: 516020

* 516040. COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2
Matching terms: 516040

* 516050. CYTOCHROME c OXIDASE III; MTCO3
Matching terms: 516050

# 540000. MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS
Matching terms: 540000

* 590020. TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC
Matching terms: 590020

* 590030. TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ
Matching terms: 590030

10:

* 590040. TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH
Matching terms: 590040

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