Disease browser and phenotype portal

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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: Abnormalities, Multiple (D000015)
Parent Node: Cataract (D002386)
Parent Node: Diabetes Mellitus (D003920)
Parent Node: Growth Disorders (D006130)
Parent Node: Osteoporosis (D010024)
Parent Node: Osteosarcoma (D012516)
..Starting node ..Premature aging, Okamoto type (C535270)
Child Nodes:
Sister Nodes:
..Oslam syndrome (C537138)
..Osteosarcoma, Juxtacortical (D018217)
..Osteosarcoma, Retinoblastoma-Related (C566714)
..Premature aging, Okamoto type (C535270)
..Sarcoma, Ewing (D012512) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9241
Name:	Premature aging, Okamoto type
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002386\|MESH:D003920\|MESH:D006130\|MESH:D010024\|MESH:D012516
TreeNumbers:	C04.557.450.565.575.650/C535270 \|C04.557.450.795.620/C535270 \|C05.116.198.579/C535270 \|C11.510.245/C535270 \|C16.131.077/C535270 \|C18.452.394.750/C535270 \|C19.246/C535270 \|C23.550.393/C535270
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Endocrine system disease\|Eye disease\|Metabolic disease\|Musculoskeletal disease\|Pathology (process)
Reference:	MedGen: C535270 MeSH: C535270 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants