Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Chromosome Deletion (D002872)
Parent Node: Epilepsy (D004827)
Parent Node: Intellectual Disability (D008607)
Parent Node: Learning Disorders (D007859)
..Starting node ..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
Child Nodes:
Sister Nodes:
..Chromosome 10q26 Deletion Syndrome (C567182)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..Dyscalculia (D060705)
..Dyslexia (D004410) 3
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Giacheti Syndrome (C567864)
..NF1 Microdeletion Syndrome (C563524)
..Riddle Syndrome (C567453)
..Slavotinek Pike Mills Hurst syndrome (C536672)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2333
Name:	CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB
Definition:
Alternative IDs:
ParentIDs:	MESH:D002872\|MESH:D004827\|MESH:D007859\|MESH:D008607
TreeNumbers:	C10.228.140.490/613729 \|C10.597.606.150.550/613729 \|C10.597.606.643/613729 \|C23.550.210.050.500.500/613729 \|C23.888.592.604.150.550/613729 \|C23.888.592.604.646/613729 \|F03.550.350.500/613729 \|F03.550.450/613729 \|F03.550.600/613729
Synonyms:	DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
Slim Mappings:	Mental disorder\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: 613729 MeSH: 613729 OMIM: 613729; Genes: AF8T;
Phenotypes
Disease Causing ClinVar Variants