Disease browser and phenotype portal

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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: Hair Diseases (D006201)
Parent Node: Keratosis (D007642)
Parent Node: Pruritus (D011537)
..Starting node ..Trichostasis spinulosa (C536558)
Child Nodes:
Sister Nodes:
..Pruritic urticarial papules plaques of pregnancy (C535817)
..Pruritus Ani (D011538)
..Pruritus Vulvae (D011539)
..Pruritus, Hereditary Localized (C566754)
..Tinea Pedis (D014008)
..Trichostasis spinulosa (C536558)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11245
Name:	Trichostasis spinulosa
Definition:
Alternative IDs:
ParentIDs:	MESH:D006201\|MESH:D007642\|MESH:D011537
TreeNumbers:	C17.800.329/C536558 \|C17.800.428/C536558 \|C17.800.685/C536558 \|C23.888.885.625/C536558
Synonyms:
Slim Mappings:	Signs and symptoms\|Skin disease
Reference:	MedGen: C536558 MeSH: C536558 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants