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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: Autoimmune Diseases (D001327)
Parent Node: Vitiligo (D014820)
..Starting node ..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:608391)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608392)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:609400)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Spastic paraplegia 23 (C536859)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 (OMIM:193200)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1078

Name:

AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D001327|MESH:D014820

TreeNumbers:

C17.800.621.440.895/607836 |C20.111/607836

Synonyms:

AIS1 |AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED |VAMAS2 |VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2

Slim Mappings:

Immune system disease|Skin disease

Reference:

MedGen: 607836
MeSH: 607836
OMIM: 607836;

Genes: FOXD3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000872	Hashimoto thyroiditis
3	HP:0001045	Vitiligo

Disease Causing ClinVar Variants