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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: Cataract (D002386)
Parent Node: Growth Disorders (D006130)
Parent Node: Learning Disorders (D007859)
..Starting node ..Slavotinek Pike Mills Hurst syndrome (C536672)
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:	10304
Name:	Slavotinek Pike Mills Hurst syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002386\|MESH:D006130\|MESH:D007859
TreeNumbers:	C10.597.606.150.550/C536672 \|C11.510.245/C536672 \|C23.550.393/C536672 \|C23.888.592.604.150.550/C536672 \|F03.550.350.500/C536672 \|F03.550.450/C536672
Synonyms:
Slim Mappings:	Eye disease\|Mental disorder\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536672 MeSH: C536672 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants