| Disease Browser
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Parent Node:
 Hamartoma Syndrome, Multiple (D006223) |
Parent Node:
Mitochondrial Diseases (D028361) |
..Starting node
.. Cowden-Like Syndrome (C567337)
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Child Nodes:
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| ........COWDEN SYNDROME 4 (OMIM:615107) |
| ........COWDEN SYNDROME 5 (OMIM:615108) |
| ........COWDEN SYNDROME 6 (OMIM:615109) |
| ........COWDEN SYNDROME 7 (OMIM:616858) |
Sister Nodes: |
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  L: 00105;
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..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
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..Ataxia and Polyneuropathy, Adult-Onset (C564020)
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..Ataxia Neuropathy Spectrum (C579922)
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..Bjornstad syndrome (C537633) L: 00084;
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..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
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..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
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..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463) L: 00487;
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..Childhood Myocerebrohepatopathy Spectrum (C579990)
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..Coenzyme Q10 Deficiency (C564403)
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..Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
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..Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
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..Cowden-Like Syndrome (C567337)
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..Cytochrome-c Oxidase Deficiency (D030401)  2 C:2 L: 00012;
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..Deoxyguanosine Kinase Deficiency (C580039)
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..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388) L: 00014;
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..ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 (OMIM:617086) L: 00525;
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..Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
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..Friedreich Ataxia (D005621) 6 C:1
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..Hypermetabolism due to Defect in Mitochondria (C565498)
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..Hypomyelination, Global Cerebral (C567847) L: 00107;
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..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
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..Kearns-Sayre Syndrome (D007625) 1 L: 00143;
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..Leigh Disease (D007888) 12 C:3 L: 00015;
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..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
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..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
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..LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
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..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
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..Mitochondrial complex I deficiency (C537475) L: 00011;
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..Mitochondrial Complex II Deficiency (C565375) L: 00016;
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..Mitochondrial Complex III Deficiency (C565128) L: 00018; 00019; 00020; 00021; 00022; 00507; 00508; 00528;
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..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273) L: 00023;
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..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 (OMIM:614052) L: 00024;
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..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (OMIM:614053) L: 00025;
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..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228) L: 00010;
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880) L: 00031;
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..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700) L: 00032;
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..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
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..Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
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..Mitochondrial Phosphate Carrier Deficiency (C563665) L: 00040;
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..MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741) L: 00041;
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..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
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..Multiple Mitochondrial Dysfunctions Syndrome (C565304) L: 00013; 00043; 00530;
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..Myopathy with Giant Abnormal Mitochondria (C564971)
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..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
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..Navajo neurohepatopathy (C538344) 1 C:1 L: 00035;
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..Noninsulin-dependent diabetes mellitus with deafness (C536246)
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..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
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..Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
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..Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
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..Parkinson Disease, Mitochondrial (C564015) L: 00170;
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..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
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..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
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..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
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..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049;
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..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
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..Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
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..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
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..Sarcosinemia (C537236)
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..Spinocerebellar Ataxia with Epilepsy (C564395)
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..Succinate-Coa Ligase Deficiency (C580473)
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..VDAC Deficiency (C565767)
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..VLCAD deficiency (C536353) L: 00436;
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..Wolfram Syndrome 2 (C565733) L: 00490;
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
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