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Hello! Guest! Please Login or Register! Clinician Mode
Examples Gene: MT-ND1, POLG,
Region: M:1-1000
Variant: m.8993T>G, 1:g.10042757T>C
rs3888511 MSCV_0000006,
ClinVar: RCV000000015,
Disease: Leigh syndrome,
Phenotype: Retinopathy
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Human Disease and Phenotype Search
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| 1 | Input Term | OMIM ID | OMIM Disorder | Gene | MESH | Top Match |
| 1:1 | LEIGH SYNDROME | 256000    | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFS3  | MESH:D007888 | 1 18.72/19.31 |
| 1:2 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | BCS1L | MESH:D007888 | 1 18.72/19.31 |
| 1:3 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFAF6 | MESH:D007888 | 1 18.72/19.31 |
| 1:4 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFAF2 | MESH:D007888 | 1 18.72/19.31 |
| 1:5 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFA9 | MESH:D007888 | 1 18.72/19.31 |
| 1:6 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFA2 | MESH:D007888 | 1 18.72/19.31 |
| 1:7 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFA12 | MESH:D007888 | 1 18.72/19.31 |
| 1:8 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | SURF1 | MESH:D007888 | 1 18.72/19.31 |
| 1:9 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFA10 | MESH:D007888 | 1 18.72/19.31 |
| 1:10 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | SDHA | MESH:D007888 | 1 18.72/19.31 |
| 1:11 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFS8 | MESH:D007888 | 1 18.72/19.31 |
| 1:12 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | FOXRED1 | MESH:D007888 | 1 18.72/19.31 |
| 1:13 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFS7 | MESH:D007888 | 1 18.72/19.31 |
| 1:14 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | COX15 | MESH:D007888 | 1 18.72/19.31 |
| 1:15 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | NDUFS4 | MESH:D007888 | 1 18.72/19.31 |
| 1:16 | LEIGH SYNDROME | 256000 | #256000 LEIGH SYNDROME; LS Synonym: Leigh syndrome, 256000; LS Disease, Leigh's|Encephalomyelitides, Subacute Necrotizing|Encephalomyelitis, Subacute Necrotizing|Encephalomyelopathies, Subacute Necrotizing|Encephalomyelopathy, Subacute Necrotizing|Encephalopathies, Subacute Necrotizing|Encephalopathy, Subacute Necro | COX10 | MESH:D007888 | 1 18.72/19.31 |
| 1:17 | LEIGH SYNDROME | 220111 | #220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC Synonym: Leigh syndrome, French-Canadian type, 220111; LSFC Cox deficiency, French Canadian type|Cox Deficiency, French-Canadian Type|Cox deficiency, Saguenay Lac saint Jean type|Cox Deficiency, Saguenay-Lac Saint-Jean Type|COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE|Cytochrome c oxidase deficiency, French Canad | LRPPRC | MESH:C537004 | 1 17.92/18.49 |
| Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release. | ||||||
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