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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: Alopecia (D000505)
Parent Node: Cataract (D002386)
Parent Node: Scleroderma, Localized (D012594)
..Starting node ..Cataract, alopecia, sclerodactyly (C535336)
Child Nodes:
Sister Nodes:
..Cataract, alopecia, sclerodactyly (C535336)
..Juvenile linear scleroderma (C543758)
..Juvenile-onset scleroderma (C543759)
..Lipodermatosclerosis (C537026)
..Sclerotylosis (C537526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1814
Name:	Cataract, alopecia, sclerodactyly
Definition:
Alternative IDs:
ParentIDs:	MESH:D000505\|MESH:D002386\|MESH:D012594
TreeNumbers:	C11.510.245/C535336 \|C17.300.787/C535336 \|C17.800.329.937.122/C535336 \|C17.800.767/C535336 \|C23.300.035/C535336
Synonyms:	Cataract, alopecia, sclerodactyly syndrome \|Cataract-Alopecia-Sclerodactyly Syndrome
Slim Mappings:	Connective tissue disease\|Eye disease\|Pathology (anatomical condition)\|Skin disease
Reference:	MedGen: C535336 MeSH: C535336 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants