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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: Alopecia (D000505)
Parent Node: Glomerulonephritis, Membranoproliferative (D015432)
Parent Node: Telangiectasis (D013684)
..Starting node ..Glomerulonephritis sparse hair telangiectases (C536825)
Child Nodes:
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4659
Name:	Glomerulonephritis sparse hair telangiectases
Definition:
Alternative IDs:
ParentIDs:	MESH:D000505\|MESH:D013684\|MESH:D015432
TreeNumbers:	C12.777.419.570.363.615/C536825 \|C13.351.968.419.570.363.615/C536825 \|C14.907.823/C536825 \|C17.800.329.937.122/C536825 \|C20.425/C536825 \|C23.300.035/C536825
Synonyms:	Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis \|Glomerulonephritis With Sparse Hair And Telangiectases \|Telangiectatic membranoproliferative glomerulonephritis
Slim Mappings:	Cardiovascular disease\|Immune system disease\|Pathology (anatomical condition)\|Skin disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C536825 MeSH: C536825 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants