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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: Amyloidosis, Familial (D028226)
Parent Node: Skin Diseases, Genetic (D012873)
Parent Node: Skin Diseases, Vesiculobullous (D012872)
..Starting node ..Amyloidosis, Cutaneous Bullous (C562644)
Child Nodes:
Sister Nodes:
..Acantholysis (D000051) 1
..Amyloidosis, Cutaneous Bullous (C562644)
..Atrichia with Papular Lesions (C565924)
..Blister (D001768) 3
..Dermatitis Herpetiformis (D003874) 1
..Eczema, Dyshidrotic (D011146)
..Eosinophilic pustular folliculitis (C535953)
..Epidermolysis Bullosa (D004820) 29
..Erythema Multiforme (D004892) 1
..Hydroa Vacciniforme (D006837) 1
..Linear IgA Bullous Dermatosis (D062027)
..Papular urticaria (C537169)
..Pemphigoid Gestationis (D006559)
..Pemphigoid, Benign Mucous Membrane (D010390)
..Pemphigoid, Bullous (D010391)
..Pemphigus (D010392) 2
..Pemphigus, Benign Familial (D016506)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

572

Name:

Amyloidosis, Cutaneous Bullous

Definition:

Alternative IDs:

ParentIDs:

MESH:D012872|MESH:D012873|MESH:D028226

TreeNumbers:

C16.320.565.176/C562644 |C16.320.850/C562644 |C17.800.827/C562644 |C17.800.865/C562644 |C18.452.648.176/C562644 |C18.452.845.500.075/C562644

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Skin disease

Reference:

MedGen: C562644
MeSH: C562644
OMIM: 204900;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000951	Abnormality of the skin
3	HP:0011034	Amyloidosis

Disease Causing ClinVar Variants