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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: Cerebrovascular Disorders (D002561)
Parent Node: Encephalomalacia (D004678)
Parent Node: Infant, Premature, Diseases (D007235)
..Starting node ..Leukomalacia, Periventricular (D007969)
Child Nodes:
Sister Nodes:
..Bronchopulmonary Dysplasia (D001997)
..Ichthyosis prematurity syndrome (C536271)
..Leukomalacia, Periventricular (D007969)
..Respiratory Distress Syndrome, Newborn (D012127) 9
..Retinopathy of Prematurity (D012178)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6400
Name:	Leukomalacia, Periventricular
Definition:	Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)
Alternative IDs:
ParentIDs:	MESH:D002561\|MESH:D004678\|MESH:D007235
TreeNumbers:	C10.228.140.300.700 \|C10.228.140.461.550 \|C14.907.253.612 \|C16.614.521.450
Synonyms:	Cerebral Leukomalacia, Neonatal \|Cerebral Leukomalacias, Neonatal \|Cystic Periventricular Leukomalacia \|Cystic Periventricular Leukomalacias \|Encephalomalacia, Periventricular \|Encephalomalacias, Periventricular \|Leucomalacia, Periventricular \|Leucomalacias, Pe
Slim Mappings:	Cardiovascular disease\|Infant-newborn disease\|Nervous system disease
Reference:	MedGen: D007969 MeSH: D007969 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants