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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: Pigmentation Disorders (D010859)
Parent Node: Purpura (D011693)
..Starting node ..Pigmented purpuric eruption (C537186)
Child Nodes:
Sister Nodes:
..Ethylmalonic encephalopathy (C535737)
..Pigmented purpuric eruption (C537186)
..Purpura Fulminans (D055665)
..Purpura simplex (C536249)
..Purpura, Hyperglobulinemic (D011694)
..Purpura, Schoenlein-Henoch (D011695) 1
..Purpura, Thrombocytopenic (D011696) 5
..Waterhouse-Friderichsen Syndrome (D014884) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8937

Name:

Pigmented purpuric eruption

Definition:

Alternative IDs:

ParentIDs:

MESH:D010859|MESH:D011693

TreeNumbers:

C15.378.100.802/C537186 |C17.800.621/C537186 |C23.550.414.950/C537186 |C23.888.885.687/C537186

Synonyms:

Familial pigmented purpuric eruption |Familial Schamberg's disease |Schamberg purpura

Slim Mappings:

Blood disease|Pathology (process)|Signs and symptoms|Skin disease

Reference:

MedGen: C537186
MeSH: C537186
OMIM: 172900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003623	Neonatal onset
3	HP:0000951	Abnormality of the skin

Disease Causing ClinVar Variants