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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: Hand Deformities, Congenital (D006228)
Parent Node: Patellar Dislocation (D031222)
..Starting node ..Say Field Coldwell syndrome (C536619)
Child Nodes:
Sister Nodes:
..Congenital dislocation of the patella (C538081)
..Patella hypoplasia mental retardation (C536308)
..Say Field Coldwell syndrome (C536619)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9997
Name:	Say Field Coldwell syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006228\|MESH:D031222
TreeNumbers:	C05.390.408/C536619 \|C05.660.585.988.425/C536619 \|C16.131.077/C536619 \|C16.131.621.585.425/C536619 \|C26.289.625/C536619 \|C26.558.554.750/C536619
Synonyms:	Triphalangeal thumbs and dislocation of patella
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Wounds and injuries
Reference:	MedGen: C536619 MeSH: C536619 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants