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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: Hip Dislocation, Congenital (D006618)
Parent Node: Keratoconus (D007640)
..Starting node ..Keratoconus And Congenital Hip Dysplasia (C565456)
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:	6059
Name:	Keratoconus And Congenital Hip Dysplasia
Definition:
Alternative IDs:
ParentIDs:	MESH:D006618\|MESH:D007640
TreeNumbers:	C05.660.449/C565456 \|C11.204.627/C565456 \|C16.131.621.449/C565456
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Musculoskeletal disease
Reference:	MedGen: C565456 MeSH: C565456 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants