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: Alopecia (D000505)
Parent Node: Mucinoses (D017520)
Parent Node: Sebaceous Gland Diseases (D012625)
..Starting node ..Mucinosis, Follicular (D000507)
Child Nodes:
Sister Nodes:
..Acne Vulgaris (D000152) 2
..Dermatitis, Seborrheic (D012628) 3
..Mucinosis, Follicular (D000507)
..Rhinophyma (D012224)
..Sebaceous Gland Neoplasms (D012626) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7416
Name:	Mucinosis, Follicular
Definition:	A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis.
Alternative IDs:
ParentIDs:	MESH:D000505\|MESH:D012625\|MESH:D017520
TreeNumbers:	C17.300.550.550 \|C17.800.329.937.122.550 \|C17.800.794.550
Synonyms:	Alopecia Mucinosa \|Follicular Mucinoses \|Follicular Mucinosis \|Mucinoses, Follicular
Slim Mappings:	Connective tissue disease\|Skin disease
Reference:	MedGen: D000507 MeSH: D000507 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants