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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: Abnormalities, Multiple (D000015)
Parent Node: Osteochondrodysplasias (D010009)
Parent Node: Situs Inversus (D012857)
..Starting node ..Fraser Jequier Chen syndrome (C535481)
Child Nodes:
Sister Nodes:
..Dextrocardia (D003914) 10
..Fraser Jequier Chen syndrome (C535481)
..HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
..Hypoglossia With Situs Inversus (C567567)
..Jeune syndrome situs inversus (C537572)
..Levocardia (D007979)
..Marfanoid Habitus with Situs Inversus (C563814)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4407
Name:	Fraser Jequier Chen syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D010009\|MESH:D012857
TreeNumbers:	C05.116.099.708/C535481 \|C16.131.077/C535481 \|C16.131.810/C535481
Synonyms:
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C535481 MeSH: C535481 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants