Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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

Disease Browser
Parent Node: Arthritis (D001168)
Parent Node: Psoriasis (D011565)
Parent Node: Spondylarthropathies (D025242)
..Starting node ..Arthritis, Psoriatic (D015535)
Child Nodes:
Sister Nodes:
..Arthritis, Psoriatic (D015535)
..Arthritis, Reactive (D016918)
..Spondylitis, Ankylosing (D013167) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

899

Name:

Arthritis, Psoriatic

Definition:

A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.

Alternative IDs:

OMIM:607507

ParentIDs:

MESH:D001168|MESH:D011565|MESH:D025242

TreeNumbers:

C05.116.900.853.625.800.424 |C05.550.114.145 |C05.550.114.865.800.424 |C17.800.859.675.175

Synonyms:

Slim Mappings:

Musculoskeletal disease|Skin disease

Reference:

MedGen: D015535
MeSH: D015535
OMIM: 607507;

Genes: LTA; NOD2;

Phenotypes

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_001159740.2(LTA):c.-9-198A>G	4049	LTA	risk factor	909253	RCV000015456; RCV000015457;	N	MedGen:C0027051,SNOMED CT:22298006; MedGen:C1835223,OMIM:607507	6	31540313	31540313	NM_001159740.2:c.-9-198A>G		NC_000006.11:g.31540313A>G	OMIM Allelic Variant:153440.0002	C0027051 Myocardial infarction; C1835223 607507 Psoriatic arthritis, susceptibility to