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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: Acromegaly (D000172)
Parent Node: Corneal Opacity (D003318)
Parent Node: Scalp Dermatoses (D012536)
..Starting node ..Rosenthal-Kloepfer syndrome (C535654)
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:	9905
Name:	Rosenthal-Kloepfer syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000172\|MESH:D003318\|MESH:D012536
TreeNumbers:	C05.116.132.082/C535654 \|C10.228.140.617.738.250.100/C535654 \|C11.204.299/C535654 \|C17.800.738/C535654 \|C19.700.355.179/C535654
Synonyms:	Acromegaloid changes, cutis verticis gyrata and corneal leukoma \|Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Slim Mappings:	Endocrine system disease\|Eye disease\|Musculoskeletal disease\|Nervous system disease\|Skin disease
Reference:	MedGen: C535654 MeSH: C535654 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants