About
News
Team
U24 Grant
Documentation
Tutorial
UMDF'17 Workshop
UMDF'17 Regional Symposia St Louis
UMDF'16 Workshop
UMDF'15 Workshop
SIMD'15 Workshop
Collaboration Zone
Book: Mitochondrial Disease Genes Compendium
Contact & Feedback
MSeqDR-LSDB
Genes View
Transcripts
Mitochondrial Disease
Genomic Variants
Add
Transcript Variants
LSDB Status
Advanced Users
Tools
mtDNA Tool:
mvTool
Phy-Mer
MToolBox
mvTool for Haplogroup
mvTool with HmtDB
MitoMaster
MitoTIP tRNA Scoring
MSeq-OpenCGA
Variant Tool:
VariantOneStop
Quick-Mitome
Quick-Mitome-Report
HBCR Exome (Retired)
POLG Patho. Server
Data - Awsomics GeEx
Expert Panel
Panel Tool:
Gene Panel Examiner
Transgenomic_NuclearMitome
Pedigree Maker
json2table
Phenome
Disease Portal
Disease Portal in Mondo
HPO Ontology Browser
NAMDC-HPO Mapping (retired)
Expert Panel
Clinical
Overview
Leigh Syndrome Resource
PMD Virtual Registry
Collaboration
Genesis (GEM.App)
LeighMap
Collaboration Zone
Submission
Submit Variant
Interpret_Variant
MSeq-OpenCGA
Instructions
Hello! Guest! Please
Login
or
Register
!
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:
Polycystic Kidney Diseases
(D007690)
..Starting node
..
Potter Type III Polycystic Kidney Disease
(C566792)
Child Nodes:
Sister Nodes:
..
Arima syndrome
(C537430)
..
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
(C565867)
..
Daneman Davy Mancer syndrome
(C535986)
..
Meckel syndrome type 1
(C536133)
..
Meckel syndrome type 2
(C536131)
..
Meckel syndrome type 3
(C536132)
..
Meckel Syndrome, Type 4
(C567003)
..
Meckel Syndrome, Type 5
(C566915)
..
Meckel Syndrome, Type 6
(C567365)
..
Meckel-Like Cerebrorenodigital Syndrome
(C567004)
..
Polycystic kidney disease, type 1
(C536326)
..
Polycystic Kidney, Autosomal Dominant
(D016891)
3
..
Polycystic Kidney, Autosomal Recessive
(D017044)
3
..
Polycystic Kidney, Cataract, and Congenital Blindness
(C564882)
..
Potter Type III Polycystic Kidney Disease
(