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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: Keratoconus (D007640)
..Starting node ..Keratoconus 4 (C563752)
Child Nodes:
Sister Nodes:
..Keratoconus 1 (C563649)
..Keratoconus 2 (C563827)
..Keratoconus 3 (C563900)
..Keratoconus 4 (C563752)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Keratoconus posticus circumscriptus (C536151)
..Keratoconus Posticus Circumscriptus with Associated Malformations (C565455)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Noninflammatory corneal thinning (C531720)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6058
Name:	Keratoconus 4
Definition:
Alternative IDs:	OMIM:609271
ParentIDs:	MESH:D007640
TreeNumbers:	C11.204.627/C563752
Synonyms:	KTCN4
Slim Mappings:	Eye disease
Reference:	MedGen: C563752 MeSH: C563752 OMIM: 609271; Genes:
Phenotypes
Disease Causing ClinVar Variants