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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

Disease Browser
Parent Node: Developmental Disabilities (D002658)
Parent Node: Hepatomegaly (D006529)
Parent Node: Refsum Disease (D012035)
..Starting node ..Refsum disease with increased pipecolic acidemia (C535517)
Child Nodes:
Sister Nodes:
..Neuropathy, hereditary motor and sensory, LOM type (C535716)
..Refsum disease with increased pipecolic acidemia (C535517)
..Refsum Disease, Adult, 1 (C567602)
..Refsum Disease, Adult, 2 (C567603)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9637
Name:	Refsum disease with increased pipecolic acidemia
Definition:
Alternative IDs:
ParentIDs:	MESH:D002658\|MESH:D006529\|MESH:D012035
TreeNumbers:	C06.552.416/C535517 \|C10.228.140.163.100.680.760/C535517 \|C10.500.300.780/C535517 \|C10.574.500.495.780/C535517 \|C10.668.829.800.300.780/C535517 \|C16.131.666.300.780/C535517 \|C16.320.400.375.780/C535517 \|C16.320.565.189.680.760/C535517 \|C16.320.565.663.760/C53551
Synonyms:
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Genetic disease (inborn)\|Mental disorder\|Metabolic disease\|Nervous system disease\|Pathology (anatomical condition)
Reference:	MedGen: C535517 MeSH: C535517 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants