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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: Intellectual Disability (D008607)
Parent Node: Scalp Dermatoses (D012536)
..Starting node ..Cutis Verticis Gyrata and Mental Deficiency (C565661)
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:

2910

Name:

Cutis Verticis Gyrata and Mental Deficiency

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D012536

TreeNumbers:

C10.597.606.643/C565661 |C17.800.738/C565661 |C23.888.592.604.646/C565661 |F03.550.600/C565661

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms|Skin disease

Reference:

MedGen: C565661
MeSH: C565661
OMIM: 219300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010541	Cutis gyrata of scalp
3	HP:0001249	Intellectual disability

Disease Causing ClinVar Variants