MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: benign eyelid neoplasm (MONDO:0021605)
Parent Node: cerebrofacial arteriovenous metameric syndrome (MONDO:0015405)
Parent Node: neurocutaneous syndrome (MONDO:0042983)
Parent Node: neurovascular disease (MONDO:0043218)
Parent Node: palpebral tumor with a vascular malformation (MONDO:0020182)
Parent Node: skin hemangioma (MONDO:0003110)
Parent Node: skin vascular disease (MONDO:0019293)
..Starting node ..Wyburn-Mason syndrome ()
Child Nodes:
Sister Nodes:
..angioedema ()
..angioma serpiginosum ()
..angioosteohypertrophic syndrome ()
..ataxia - telangiectasia-like disorder ()
..ataxia telangiectasia ()
..Behcet disease ()
..blue rubber bleb nevus ()
..Bockenheimer syndrome ()
..calciphylaxis cutis ()
..chilblain lupus ()
..Cobb syndrome ()
..cutaneous collagenous vasculopathy ()
..cutis marmorata telangiectatica congenita (disease) ()
..Fabry disease ()
..familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ()
..familial multiple nevi flammei ()
..generalized essential telangiectasia ()
..hereditary hemorrhagic telangiectasia ()
..livedo reticularis ()
..Maffucci syndrome ()
..malignant atrophic papulosis ()
..megalencephaly-capillary malformation-polymicrogyria syndrome ()
..pityriasis lichenoides ()
..Sneddon syndrome ()
..Wyburn-Mason syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18892
Name:	Wyburn-Mason syndrome
Definition:	Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes; bonnet-Decaume-Blanc syndrome; bonnet-Dechaume-Blanc syndrome; CAMS2; Cerebrofacial arteriovenous metameric syndrome type 2; Wyburn Mason syndrome; Wyburn Mason's syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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