Human Phenotype Search HPO OMIM

source : OMIM

Patient name: HPO terms: Review the HPO mapping below, selecte/de-select on HPO Term ID check boxes to add/remove the picked terms into search term list
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	NDUFAF2	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	NDUFA9	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	SURF1	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	NDUFA2	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	COX15	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	NDUFA12	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	COX10	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	SDHA	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	BCS1L	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	NDUFS7	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	NDUFS4	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	FOXRED1	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	NDUFS3	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	NDUFAF6	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
1:18	LEIGH SYNDROME	614739	#614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE Synonym: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL	SERAC1	C3553597	0 13.19/18.29