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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Skin Diseases, Papulosquamous (D017444)
..Starting node ..Psoriasis (D011565)
Child Nodes:
........Arthritis, Psoriatic (D015535)
........Mental Retardation associated with Psoriasis (C564107)
........Tranebjaerg Svejgaard syndrome (C536978)
Sister Nodes:
..Comedones, Familial Dyskeratotic (C562838)
..Dermatitis, Seborrheic (D012628) 3
..Dermatosis Papulosa Nigra (C562379)
..dowling-degos disease (C562924)
..Granulosis Rubra Nasi (C562483)
..Lichenoid Eruptions (D017512) 8
..Parapsoriasis (D010267) 2
..Pityriasis (D010915) 5
..Psoriasis (D011565) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9446

Name:

Psoriasis

Definition:

A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.

Alternative IDs:

ParentIDs:

MESH:D017444

TreeNumbers:

C17.800.859.675

Synonyms:

Slim Mappings:

Skin disease

Reference:

MedGen: D011565
MeSH: D011565
OMIM: 177900;

Genes: CARD14; HLA-C; IL23R; PSORS3; PSORS4; PSORS5; PSORS6; PSORS7; PSORS9;

Phenotypes

1	HP:0001369	Arthritis
2	HP:0001426	Multifactorial inheritance
3	HP:0001803	Nail pits
4	HP:0025088	Onychomadesis
5	HP:0003765	Psoriasiform dermatitis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_003506.3(FZD6):c.1531C>T (p.Arg511Cys)	8323	FZD6	Pathogenic	151339003	RCV000023301; RCV000077801;	N	MedGen:C0027339,SNOMED CT:17790008; MedGen:C3279974,OMIM:614157,ORPHA:280654	8	104340634	104340634	NM_003506.3:c.1531C>T	NP_003497.2:p.Arg511Cys	NC_000008.10:g.104340634C>T	OMIM Allelic Variant:603409.0002	C0027339 Nail disease; C3279974 614157 Nail disorder, nonsyndromic congenital, 10; C1867449 177900 Psoriasis susceptibility 1
NM_003506.3(FZD6):c.1750G>T (p.Glu584Ter)	8323	FZD6	Pathogenic	151339002	RCV000023300; RCV000077802;	N	MedGen:C0027339,SNOMED CT:17790008; MedGen:C3279974,OMIM:614157,ORPHA:280654	8	104342091	104342091	NM_003506.3:c.1750G>T	NP_003497.2:p.Glu584Ter	NC_000008.10:g.104342091G>T	OMIM Allelic Variant:603409.0001	C0027339 Nail disease; C3279974 614157 Nail disorder, nonsyndromic congenital, 10; C1867449 177900 Psoriasis susceptibility 1