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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: Keratoconus (D007640)
..Starting node ..Keratoconus Posticus Circumscriptus with Associated Malformations (C565455)
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:	6061
Name:	Keratoconus Posticus Circumscriptus with Associated Malformations
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D007640
TreeNumbers:	C11.204.627/C565455 \|C16.131.077/C565455
Synonyms:	KPC with Associated Malformations
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: C565455 MeSH: C565455 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants