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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: Heart Defects, Congenital (D006330)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Pterygium (D011625)
..Starting node ..Powell Chandra Saal syndrome (C538357)
Child Nodes:
Sister Nodes:
..Fetal akinesia syndrome, X-linked (C537921)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Powell Chandra Saal syndrome (C538357)
..Pterygium colli mental retardation digital anomalies (C535831)
..Pterygium Of Conjunctiva And Cornea (C566740)
..Rubinstein Taybi like syndrome (C535877)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9195
Name:	Powell Chandra Saal syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D011625\|MESH:D017880
TreeNumbers:	C05.660.585/C538357 \|C11.187.781/C538357 \|C14.240.400/C538357 \|C14.280.400/C538357 \|C16.131.077/C538357 \|C16.131.240.400/C538357 \|C16.131.621.585/C538357
Synonyms:	PHAVER syndrome \|Vertebral, radial, congenital heart, and ear defects
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Eye disease\|Musculoskeletal disease
Reference:	MedGen: C538357 MeSH: C538357 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants