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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: Cutis Laxa (D003483)
Parent Node: Infant, Newborn, Diseases (D007232)
Parent Node: Marfan Syndrome (D008382)
..Starting node ..Cutis Laxa-Marfanoid Syndrome (C563639)
Child Nodes:
Sister Nodes:
..Cutis Laxa-Marfanoid Syndrome (C563639)
..Furlong syndrome (C538192)
..Lujan Fryns syndrome (C537724)
..Marfan Syndrome type 2 (C535911)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..Marfanoid Habitus with Situs Inversus (C563814)
..Marfanoid hypermobility syndrome (C531742)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Shprintzen Golberg craniosynostosis (C537328)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2906
Name:	Cutis Laxa-Marfanoid Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003483\|MESH:D007232\|MESH:D008382
TreeNumbers:	C05.116.099.674/C563639 \|C14.240.400.725/C563639 \|C14.280.400.725/C563639 \|C16.131.077.550/C563639 \|C16.131.240.400.720/C563639 \|C16.320.540/C563639 \|C16.320.850.180/C563639 \|C16.614/C563639 \|C17.300.230/C563639 \|C17.300.500/C563639 \|C17.800.827.180/C563639
Synonyms:	Neonatal Cutis Laxa With Marfanoid Phenotype
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Connective tissue disease\|Genetic disease (inborn)\|Infant-newborn disease\|Musculoskeletal disease\|Skin disease
Reference:	MedGen: C563639 MeSH: C563639 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants