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Entry Name Description Category Pathway Gene
H00473 Mitochondrial complex I deficiency Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... Inherited metabolic disorder, Mitochondrial disease (MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
(MC1DN39) NDUFB7 [HSA:4713] [KO:K03963]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
H00476 Multiple epiphyseal dysplasia ... Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD). Congenital malformation (EDM1) COMP [HSA:1311] [KO:K04659]
(EDM2) COL9A2 [HSA:1298] [KO:K08131]
(EDM3) COL9A3 [HSA:1299] [KO:K08131]
(EDM4) DTDST [HSA:1836] [KO:K14701]
(EDM5) MATN3 [HSA:4148] [KO:K19467]
(EDM6) COL9A1 [HSA:1297] [KO:K08131]
(EDM7) CANT1 [HSA:124583] [KO:K12304]
(EDMMD) COL2A1 [HSA:1280] [KO:K19719]
H00594 Distal myopathy Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical ... Nervous system disease; Musculoskeletal disease (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
(NM) GNE [HSA:10020] [KO:K12409]
(DMRV) SQSTM1 [HSA:8878] [KO:K14381]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K27393]
(MPD5) ADSS1 [HSA:122622] [KO:K01939]
(MPD6) ACTN2 [HSA:88] [KO:K21073]
(MPD7) SMPX [HSA:23676] [KO:K24209]
(MPDT) CAV3 [HSA:859] [KO:K12959]
H01310 Multi-minicore disease
Multicore myopathy with external ophthalmoplegia
Rigid spine syndrome (RSS) 		Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined ... Nervous system disease; Musculoskeletal disease SEPN1 [HSA:57190] [KO:K19874]
RYR1 [HSA:6261] [KO:K04961]
H01894 Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... Inherited metabolic disorder, Mitochondrial disease (MMDS1) NFU1 [HSA:27247] [KO:K22074]
(MMDS2) BOLA3 [HSA:388962] [KO:K22075]
(MMDS3) IBA57 [HSA:200205] [KO:K22073]
(MMDS4) ISCA2 [HSA:122961] [KO:K22072]
(MMDS5) ISCA1 [HSA:81689] [KO:K22063]
(MMDS6) PMPCB [HSA:9512] [KO:K17732]
(MMDS7) GCSH [HSA:2653] [KO:K02437]
H01965 Miyoshi muscular dystrophy
Miyoshi myopathy 		Miyoshi muscular dystrophy (MMD) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms ... Nervous system disease; Musculoskeletal disease (MMD1) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
H02481 Syndromic disorder with short stature Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... Congenital malformation (SSMDF) CRIPT [HSA:9419] [KO:K24826]
(SAMS) GSC [HSA:145258] [KO:K09324]
(SBIDDS) PRMT7 [HSA:54496] [KO:K11438]
(SIMHA) ZNF407 [HSA:55628] [KO:K26729]
(SOFT) POC1A [HSA:25886] [KO:K16482]
(SOFM) POLR3GL [HSA:84265] [KO:K03024]
(SOPH) NBAS [HSA:51594] [KO:K20473]
(SRMMD) ARCN1 [HSA:372] [KO:K20471]
(SSASKS) SLC10A7 [HSA:84068] [KO:K14347]
(SSFSC1) BMP2 [HSA:650] [KO:K21283]
(SSFSC2) SCUBE3 [HSA:222663] [KO:K24468]
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