Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Hearing Loss, Sensorineural (D006319)
Parent Node: Retinitis Pigmentosa (D012174)
Parent Node: Scalp Dermatoses (D012536)
..Starting node ..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
Child Nodes:
Sister Nodes:
..Adams Oliver syndrome (C538225)
..Akesson syndrome (C535610)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Cutis Verticis Gyrata and Mental Deficiency (C565661)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Dandruff (D063807)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Rosenthal-Kloepfer syndrome (C535654)
..Tinea Capitis (D014006) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2911
Name:	Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Definition:
Alternative IDs:
ParentIDs:	MESH:D006319\|MESH:D012174\|MESH:D012536
TreeNumbers:	C09.218.458.341.887/C565306 \|C10.597.751.418.341.887/C565306 \|C11.270.684/C565306 \|C11.768.585.658.500/C565306 \|C16.320.290.684/C565306 \|C17.800.738/C565306 \|C23.888.592.763.393.341.887/C565306
Synonyms:
Slim Mappings:	Ear-nose-throat disease\|Eye disease\|Genetic disease (inborn)\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C565306 MeSH: C565306 OMIM: 605685; Genes:
Phenotypes
Disease Causing ClinVar Variants