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Clinician Mode
Genomic Search
Disease: OMIM
Disease: HPO
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
MSeqDR Mitochondrial Disease Portal
Choose a Mitochondrial Disease for the MSeqDR Annotations:
1 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD... HP:17 ND:5 UMDF:1
2 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD... HP:20 ND:6 UMDF:1
3 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACAD... HP:20 ND:4 UMDF:1
4 302060 BARTH SYNDROME; BTHS... HP:27 ND:5 UMDF:1
5 212160 CARNITINE DEFICIENCY, MYOPATHIC... HP:4 ND:1 UMDF:1
6 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP... HP:26 ND:6 UMDF:1
7 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY... HP:20 ND:5 UMDF:1
8 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD... HP:22 ND:3 UMDF:1
9 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3... HP:10 ND:4 UMDF:1
10 607426 Coenzyme Q10 deficiency, primary, 1, 607426 (3)... HP:29 ND:5 UMDF:1
11 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2... HP:12 ND:0 UMDF:1
12 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3... HP:9 ND:1 UMDF:1
13 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4... HP:17 ND:7 UMDF:1
14 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5... HP:19 ND:6 UMDF:1
15 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6... HP:9 ND:3 UMDF:1
16 516020 CYTOCHROME b OF COMPLEX III; MTCYB... HP:9 ND:2 UMDF:1
17 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA;LUFT DISEASE... HP:1 ND:0 UMDF:1
18 530000 KEARNS-SAYRE SYNDROME, caused by various mitochondrial delet... HP:24 ND:10 UMDF:1
19 535000 LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID... HP:15 ND:4 UMDF:1
20 256000 Leigh syndrome due to mitochondrial complex 1 deficiency, 25... HP:35 ND:11 UMDF:1
21 220111 Leigh syndrome, French-Canadian type, 220111 (3)... HP:31 ND:5 UMDF:1
22 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEME... HP:18 ND:5 UMDF:1
23 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY... HP:7 ND:2 UMDF:1
24 252010 Mitochondrial complex I deficiency, 252010 (3)... HP:42 ND:13 UMDF:1
25 252011 Mitochondrial complex II deficiency, 252011 (3)... HP:33 ND:13 UMDF:1
26 220110 Mitochondrial complex IV deficiency, 220110 (3)... HP:35 ND:9 UMDF:1
27 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 ... HP:27 ND:7 UMDF:1
28 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)... HP:35 ND:6 UMDF:1
29 203700 Mitochondrial DNA depletion syndrome 4A (Alpers type), 20370... HP:34 ND:5 UMDF:1
30 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS... HP:22 ND:5 UMDF:1
31 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND... HP:25 ND:7 UMDF:1
32 251900 MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chron... HP:9 ND:2 UMDF:1
33 607459 Mitochondrial recessive ataxia syndrome (includes SANDO and ... HP:37 ND:12 UMDF:1
34 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD... HP:35 ND:3 UMDF:1
35 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF ... HP:12 ND:6 UMDF:1
36 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML... HP:21 ND:7 UMDF:1
37 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA... HP:19 ND:6 UMDF:1
38 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT... HP:19 ND:2 UMDF:1
39 551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME... HP:14 ND:6 UMDF:1
40 557000 PEARSON MARROW-PANCREAS SYNDROME ... HP:13 ND:1 UMDF:1
41 157640 Progressive external ophthalmoplegia, autosomal dominant, 15... HP:41 ND:8 UMDF:1
42 266150 Pyruvate carboxylase deficiency, 266150 (3)... HP:17 ND:4 UMDF:1
43 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD... HP:33 ND:6 UMDF:1
44 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD... HP:3 ND:0 UMDF:1
45 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD... HP:19 ND:6 UMDF:1
46 614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PD... HP:21 ND:5 UMDF:1
47 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD... HP:12 ND:5 UMDF:1
48 231530 3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH... HP:15 ND:5 UMDF:0
49 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, A... HP:24 ND:7 UMDF:0
50 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1... HP:22 ND:6 UMDF:0
51 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3... HP:13 ND:4 UMDF:0
52 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5... HP:19 ND:3 UMDF:0
53 615595 ?Combined oxidative phosphorylation deficiency 19, 615595 (3... HP:7 ND:2 UMDF:0
54 615918 ?Combined oxidative phosphorylation deficiency 21, 615918 (3... HP:9 ND:3 UMDF:0
55 616045 ?Combined oxidative phosphorylation deficiency 22, 616045 (3... HP:11 ND:2 UMDF:0
56 616430 ?Combined oxidative phosphorylation deficiency 25, 616430 (3... HP:17 ND:3 UMDF:0
57 616811 ?Combined oxidative phosphorylation deficiency 29, 616811 (3... HP:25 ND:6 UMDF:0
58 615824 ?Mitochondrial complex III deficiency, nuclear type 7, 61582... HP:17 ND:4 UMDF:0
59 616111 ?Mitochondrial complex III deficiency, nuclear type 9, 61611... HP:9 ND:3 UMDF:0
60 616896 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyo... HP:13 ND:2 UMDF:0
61 617156 ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral typ... HP:14 ND:1 UMDF:0
62 616209 ?Myopathy, isolated mitochondrial, autosomal dominant, 61620... HP:9 ND:2 UMDF:0
63 617069 ?Progressive external ophthalmoplegia with mitochondrial DNA... HP:13 ND:4 UMDF:0
64 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF... HP:17 ND:6 UMDF:0
65 610251 Alcohol sensitivity, acute, 610251 (3)... HP:3 ND:0 UMDF:0
66 203750 ALPHA-METHYLACETOACETIC ACIDURIA... HP:5 ND:0 UMDF:0
67 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL... HP:6 ND:2 UMDF:0
68 613672 Ataxia, spastic, 4, 613672 (3)... HP:11 ND:2 UMDF:0
69 262000 Bjornstad syndrome, 262000 (3)... HP:12 ND:2 UMDF:0
70 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY... HP:18 ND:4 UMDF:0
71 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME ... HP:15 ND:4 UMDF:0
72 615119 Cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:7 ND:2 UMDF:0
73 616500 Cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:3 ND:1 UMDF:0
74 616501 Cardioencephalomyopathy, fatal infantile, due to cytochrome ... HP:6 ND:2 UMDF:0
75 613642 Cardiomyopathy, dilated, 1GG, 613642 (3)... HP:2 ND:1 UMDF:0
76 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE;CPT2... HP:14 ND:2 UMDF:0
77 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET... HP:9 ND:3 UMDF:0
78 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATA... HP:56 ND:5 UMDF:0
79 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2... HP:31 ND:3 UMDF:0
80 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHL... HP:1 ND:0 UMDF:0
81 233700 Chronic granulomatous disease, autosomal recessive cytochrom... HP:24 ND:0 UMDF:0
82 233710 Chronic granulomatous disease, autosomal recessive cytochrom... HP:24 ND:0 UMDF:0
83 603471 Citrullinemia, adult-onset type II, 603471 (3)... HP:10 ND:1 UMDF:0
84 605814 Citrullinemia, type II, neonatal-onset, 605814 (3)... HP:11 ND:2 UMDF:0
85 616276 COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7... HP:13 ND:4 UMDF:0
86 616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8... HP:23 ND:4 UMDF:0
87 615182 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)... HP:19 ND:5 UMDF:0
88 609060 Combined oxidative phosphorylation deficiency 1, 609060 (3)... HP:23 ND:3 UMDF:0
89 614702 Combined oxidative phosphorylation deficiency 10, 614702 (3)... HP:20 ND:7 UMDF:0
90 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11... HP:34 ND:7 UMDF:0
91 614924 Combined oxidative phosphorylation deficiency 12, 614924 (3)... HP:27 ND:6 UMDF:0
92 614932 Combined oxidative phosphorylation deficiency 13, 614932 (3)... HP:10 ND:2 UMDF:0
93 614946 Combined oxidative phosphorylation deficiency 14, 614946 (3)... HP:23 ND:5 UMDF:0
94 614947 Combined oxidative phosphorylation deficiency 15, 614947 (3)... HP:25 ND:6 UMDF:0
95 615395 Combined oxidative phosphorylation deficiency 16, 615395 (3)... HP:7 ND:1 UMDF:0
96 615440 Combined oxidative phosphorylation deficiency 17, 615440 (3)... HP:10 ND:4 UMDF:0
97 615578 Combined oxidative phosphorylation deficiency 18, 615578 (3)... HP:13 ND:1 UMDF:0
98 610498 Combined oxidative phosphorylation deficiency 2, 610498 (3)... HP:19 ND:1 UMDF:0
99 615917 Combined oxidative phosphorylation deficiency 20, 615917 (3)... HP:10 ND:4 UMDF:0
100 616198 Combined oxidative phosphorylation deficiency 23, 616198 (3)... HP:13 ND:4 UMDF:0
101 616239 Combined oxidative phosphorylation deficiency 24, 616239 (3)... HP:24 ND:7 UMDF:0
102 616539 Combined oxidative phosphorylation deficiency 26, 616539 (3)... HP:21 ND:6 UMDF:0
103 616672 Combined oxidative phosphorylation deficiency 27, 616672 (3)... HP:17 ND:5 UMDF:0
104 616794 Combined oxidative phosphorylation deficiency 28, 616794 (3)... HP:19 ND:3 UMDF:0
105 610505 Combined oxidative phosphorylation deficiency 3, 610505 (3)... HP:34 ND:10 UMDF:0
106 616974 Combined oxidative phosphorylation deficiency 30, 616974 (3)... HP:13 ND:0 UMDF:0
107 617228 Combined oxidative phosphorylation deficiency 31, 617228 (3)... HP:15 ND:5 UMDF:0
108 610678 Combined oxidative phosphorylation deficiency 4, 610678 (3)... HP:17 ND:2 UMDF:0
109 611719 Combined oxidative phosphorylation deficiency 5, 611719 (3)... HP:25 ND:4 UMDF:0
110 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6... HP:21 ND:3 UMDF:0
111 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7... HP:20 ND:4 UMDF:0
112 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8... HP:9 ND:1 UMDF:0
113 614582 Combined oxidative phosphorylation deficiency 9, 614582 (3)... HP:10 ND:4 UMDF:0
114 500007 CYCLIC VOMITING SYNDROME; CVS... HP:26 ND:9 UMDF:0
115 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3)... HP:6 ND:4 UMDF:0
116 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED... HP:2 ND:0 UMDF:0
117 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A... HP:4 ND:1 UMDF:0
118 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE... HP:5 ND:1 UMDF:0
119 250800 Deficiency of cytochrome-b5 reductase... HP:13 ND:4 UMDF:0
120 520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD... HP:15 ND:5 UMDF:0
121 125853 Diabetes mellitus, noninsulin-dependent, 125853 (3)... HP:4 ND:0 UMDF:0
122 608902 Disorder due cytochrome p450 CYP2D6 variant... HP:3 ND:0 UMDF:0
123 613571 Disordered steroidogenesis due to cytochrome p450 oxidoreduc... HP:4 ND:0 UMDF:0
124 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT A... HP:22 ND:3 UMDF:0
125 614388 Encephalopahty, lethal, due to defective mitochondrial perox... HP:24 ND:3 UMDF:0
126 617086 Encephalopathy due to defective mitochondrial and peroxisoma... HP:18 ND:6 UMDF:0
127 602473 ENCEPHALOPATHY, ETHYLMALONIC; EE... HP:18 ND:5 UMDF:0
128 609304 Epileptic encephalopathy, early infantile, 3, 609304 (3)... HP:10 ND:2 UMDF:0
129 229300 FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED RE... HP:27 ND:3 UMDF:0
130 605899 GLYCINE ENCEPHALOPATHY; GCE... HP:19 ND:5 UMDF:0
131 603358 GRACILE syndrome, 603358 (3)... HP:8 ND:1 UMDF:0
132 233690 Granulomatous disease, chronic, autosomal recessive, cytochr... HP:25 ND:0 UMDF:0
133 613960 Granulomatous disease, chronic, autosomal recessive, cytochr... HP:5 ND:0 UMDF:0
134 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-... HP:4 ND:0 UMDF:0
135 300438 HSD10 mitochondrial disease, 300438 (3)... HP:27 ND:8 UMDF:0
136 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCH... HP:4 ND:0 UMDF:0
137 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,... HP:28 ND:2 UMDF:0
138 612949 Hypomyelination, global cerebral, 612949 (3)... HP:11 ND:5 UMDF:0
139 606407 HYPOTONIA-CYSTINURIA SYNDROME... HP:28 ND:5 UMDF:0
140 614559 Infantile cerebellar-retinal degeneration, 614559 (3)??mitoc... HP:21 ND:3 UMDF:0
141 500001 LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTI... HP:18 ND:5 UMDF:0
142 308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;LHON, MODIFIER OF;LOA... HP:3 ND:0 UMDF:0
143 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4... HP:18 ND:5 UMDF:0
144 615889 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKEN... HP:17 ND:5 UMDF:0
145 151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL... HP:4 ND:0 UMDF:0
146 613070 Liver failure, transient infantile, 613070 (3)... HP:16 ND:0 UMDF:0
147 607196 Microcephaly, Amish type, 607196 (3)... HP:12 ND:0 UMDF:0
148 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear typ... HP:9 ND:1 UMDF:0
149 124000 Mitochondrial complex III deficiency, nuclear type 1, 124000... HP:43 ND:12 UMDF:0
150 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157... HP:31 ND:8 UMDF:0
151 615158 Mitochondrial complex III deficiency, nuclear type 3, 615158... HP:3 ND:0 UMDF:0
152 615159 Mitochondrial complex III deficiency, nuclear type 4, 615159... HP:11 ND:4 UMDF:0
153 615160 Mitochondrial complex III deficiency, nuclear type 5, 615160... HP:7 ND:0 UMDF:0
154 615453 Mitochondrial complex III deficiency, nuclear type 6, 615453... HP:7 ND:0 UMDF:0
155 615838 Mitochondrial complex III deficiency, nuclear type 8, 615838... HP:26 ND:5 UMDF:0
156 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear t... HP:20 ND:5 UMDF:0
157 614052 Mitochondrial complex V (ATP synthase) deficiency, nuclear t... HP:35 ND:8 UMDF:0
158 614053 Mitochondrial complex V (ATP synthase) deficiency, nuclear t... HP:7 ND:1 UMDF:0
159 615084 Mitochondrial DNA depletion syndrome 11, 615084 (3)... HP:27 ND:5 UMDF:0
160 615418 Mitochondrial DNA depletion syndrome 12 (cardiomyopathic typ... HP:11 ND:4 UMDF:0
161 617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic ty... HP:8 ND:1 UMDF:0
162 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic ... HP:44 ND:11 UMDF:0
163 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type), 609... HP:27 ND:3 UMDF:0
164 613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662... HP:21 ND:6 UMDF:0
165 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic w... HP:32 ND:9 UMDF:0
166 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)... HP:36 ND:6 UMDF:0
167 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)... HP:30 ND:4 UMDF:0
168 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic ... HP:14 ND:2 UMDF:0
169 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic t... HP:27 ND:6 UMDF:0
170 600462 Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3... HP:20 ND:3 UMDF:0
171 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEI... HP:5 ND:2 UMDF:0
172 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES... HP:18 ND:3 UMDF:0
173 500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT... HP:24 ND:0 UMDF:0
174 551000 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE... HP:4 ND:1 UMDF:0
175 610773 Mitochondrial phosphate carrier deficiency, 610773 (3)... HP:8 ND:2 UMDF:0
176 614741 Mitochondrial pyruvate carrier deficiency, 614741 (3)... HP:20 ND:4 UMDF:0
177 616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, ... HP:11 ND:4 UMDF:0
178 304700 Mohr-Tranebjaerg syndrome, 304700 (3)... HP:20 ND:5 UMDF:0
179 605711 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)... HP:10 ND:3 UMDF:0
180 614299 Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)... HP:23 ND:7 UMDF:0
181 615330 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)... HP:17 ND:1 UMDF:0
182 616370 Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)... HP:6 ND:1 UMDF:0
183 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC... HP:20 ND:6 UMDF:0
184 550500 MYOGLOBINURIA, RECURRENT ... HP:4 ND:0 UMDF:0
185 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA... HP:8 ND:4 UMDF:0
186 613076 Myopathy, mitochondrial progressive, with congenital catarac... HP:7 ND:5 UMDF:0
187 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4... HP:30 ND:10 UMDF:0
188 101000 Neurofibromatosis, type 2, 101000 (3)... HP:20 ND:2 UMDF:0
189 601152 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6... HP:29 ND:3 UMDF:0
190 601665 Obesity, autosomal dominant, 601665 (3)... HP:6 ND:0 UMDF:0
191 553000 ONCOCYTOMA ... HP:3 ND:0 UMDF:0
192 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHO... HP:5 ND:2 UMDF:0
193 165500 OPTIC ATROPHY 1; OPA1... HP:16 ND:1 UMDF:0
194 125250 Optic atrophy plus syndrome, 125250, DOA+... HP:23 ND:3 UMDF:0
195 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS, 165200... HP:8 ND:1 UMDF:0
196 261650 PEPCK deficiency, mitochondrial, 261650 (1)... HP:6 ND:1 UMDF:0
197 614926 PERRAULT SYNDROME 2; PRLTS2... HP:2 ND:1 UMDF:0
198 615300 Perrault syndrome 4, 615300 (3)... HP:6 ND:0 UMDF:0
199 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6... HP:27 ND:4 UMDF:0
200 609283 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:15 ND:3 UMDF:0
201 610131 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:27 ND:7 UMDF:0
202 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA ... HP:39 ND:15 UMDF:0
203 613077 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:14 ND:6 UMDF:0
204 615156 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:17 ND:2 UMDF:0
205 616479 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:20 ND:5 UMDF:0
206 617070 Progressive external ophthalmoplegia with mitochondrial DNA ... HP:18 ND:6 UMDF:0
207 258450 Progressive external ophthalmoplegia, autosomal recessive, 2... HP:46 ND:8 UMDF:0
208 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA... HP:3 ND:1 UMDF:0
209 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA,... HP:25 ND:6 UMDF:0
210 267500 Reticular dysgenesis, 267500 (3)... HP:8 ND:0 UMDF:0
211 212350 SENGERS SYNDROME... HP:24 ND:6 UMDF:0
212 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7... HP:24 ND:3 UMDF:0
213 610246 SPINOCEREBELLAR ATAXIA 28; SCA28... HP:17 ND:6 UMDF:0
214 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL ... HP:11 ND:3 UMDF:0
215 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI... HP:11 ND:3 UMDF:0
216 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY... HP:23 ND:7 UMDF:0
217 604928 WOLFRAM SYNDROME 2; WFS2... HP:9 ND:4 UMDF:0
218 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM ... HP:16 ND:4 UMDF:0
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied
CPEO
,
Complex I Deficiency
,
COXPD1
,
Leigh
,
LHON
,
MELAS
,
MERRF
,
Myopathy
,
SANDO
Disease Browser
Parent Node:
Corneal Dystrophies, Hereditary
(D003317)
..Starting node
..
Corneal Dystrophy, Congenital Stromal
(C566452)
Child Nodes:
Sister Nodes:
..
Bietti Crystalline Dystrophy
(C535440)
..
Brachymesomelia renal syndrome
(C537096)
..
Chorioretinal atrophy, progressive bifocal
(C535356)
..
Congenital Corneal Opacities, Cornea Guttata, and Corectopia
(C563921)
..
Corneal cerebellar syndrome
(C535472)
..
Corneal Degeneration, Ribbonlike, with Deafness
(C565157)
..
Corneal dystrophy and perceptive deafness
(C535473)
..
Corneal dystrophy Avellino type
(C535474)
..
Corneal dystrophy of Bowman layer, type 1
(C535476)
..
Corneal Dystrophy, Band-Shaped
(C562399)
..
Corneal Dystrophy, Central Type
(C563262)
..
Corneal Dystrophy, Congenital Stromal
(C566452)
..
Corneal Dystrophy, Crystalline, of Schnyder
(C535475)
..
Corneal Dystrophy, Endothelial, X-Linked
(C567587)
..
Corneal Dystrophy, Fleck
(C563256)
..
Corneal dystrophy, gelatinous drop-like
(C535480)
..
Corneal Dystrophy, Juvenile Epithelial of Meesmann
(D053559)
..
Corneal Dystrophy, Lattice Type IIIA
(C563923)
..
Corneal Dystrophy, Lisch Epithelial
(C567588)
..
Corneal Dystrophy, Posterior Amorphous
(C567546)
..
Corneal Dystrophy, Posterior Polymorphous, 1
(C562745)
..
Corneal Dystrophy, Posterior Polymorphous, 2
(C565176)
..
Corneal Dystrophy, Posterior Polymorphous, 3
(C563788)
..
Corneal Dystrophy, Subepithelial Mucinous
(C567547)
..
Corneal dystrophy, Thiel-Behnke type
(C535942)
..
Corneal Endothelial Dystrophy 1
(C565156)
..
Corneal endothelial dystrophy type 2
(C536439)
..
Corneodermatoosseous syndrome
(C536444)
..
Dermochondrocorneal dystrophy of Franč½ois
(C535375)
..
EDICT SYNDROME
(OMIM:614303)
..
Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia
(C565591)
..
Epithelial Recurrent Erosion Dystrophy
(C565155)
..
Fuchs' Endothelial Dystrophy
(D005642)
10
..
Groenouw type I corneal dystrophy
(C537304)
..
Ichthyosiform erythroderma, corneal involvement, deafness
(C537363)
..
Judge Misch Wright syndrome
(C537692)
..
Kuster Majewski Hammerstein syndrome
(C538125)
..
Lattice corneal dystrophy type 1
(C537881)
..
Macular Corneal Dystrophy, Type II
(C563270)
..