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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: Craniosynostoses (D003398)
Parent Node: Intellectual Disability (D008607)
Parent Node: Pulmonary Valve Stenosis (D011666)
..Starting node ..Hordnes Engebretsen Knudtson syndrome (C536067)
Child Nodes:
Sister Nodes:
..Ciuffo Syndrome (C566733)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Keutel syndrome (C536167)
..LEOPARD Syndrome (D044542) 2
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pulmonary Subvalvular Stenosis (D011662)
..Pulmonic Stenosis and Congenital Nephrosis (C562895)
..WATSON SYNDROME (OMIM:193520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5263
Name:	Hordnes Engebretsen Knudtson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D003398\|MESH:D008607\|MESH:D011666
TreeNumbers:	C05.116.099.370.894.232/C536067 \|C05.660.207.240/C536067 \|C05.660.207.707.249/C536067 \|C05.660.906.364/C536067 \|C10.597.606.643/C536067 \|C14.280.484.716/C536067 \|C14.280.955.750/C536067 \|C16.131.077/C536067 \|C16.131.621.207.240/C536067 \|C16.131.621.207.707.249/C5
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536067 MeSH: C536067 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants