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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: Intellectual Disability (D008607)
Parent Node: Patellar Dislocation (D031222)
..Starting node ..Patella hypoplasia mental retardation (C536308)
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:	8715
Name:	Patella hypoplasia mental retardation
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D031222
TreeNumbers:	C10.597.606.643/C536308 \|C23.888.592.604.646/C536308 \|C26.289.625/C536308 \|C26.558.554.750/C536308 \|F03.550.600/C536308
Synonyms:	Mental retardation with patellar hypoplasia and luxation
Slim Mappings:	Mental disorder\|Nervous system disease\|Signs and symptoms\|Wounds and injuries
Reference:	MedGen: C536308 MeSH: C536308 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants