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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: Arthrogryposis (D001176)
Parent Node: Deafness (D003638)
Parent Node: Hernia, Inguinal (D006552)
..Starting node ..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
Child Nodes:
Sister Nodes:
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Hernia, Double Inguinal (C563164)
..Lambert syndrome (C538396)
..Microspherophakia with hernia (C537468)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	919
Name:	Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Definition:
Alternative IDs:
ParentIDs:	MESH:D001176\|MESH:D003638\|MESH:D006552
TreeNumbers:	C05.550.150/C535381 \|C05.651.102/C535381 \|C05.660.077/C535381 \|C09.218.458.341.186/C535381 \|C10.597.751.418.341.186/C535381 \|C16.131.621.077/C535381 \|C23.300.707.374.875/C535381 \|C23.888.592.763.393.341.186/C535381
Synonyms:
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms
Reference:	MedGen: C535381 MeSH: C535381 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants