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: Central Nervous System Neoplasms (D016543)
Parent Node: Nervous System Malformations (D009421)
..Starting node ..Central Nervous System Cysts (D020863)
Child Nodes:
........Arachnoid Cysts (D016080) 6
........Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
........Colloid Cysts (D056364) 1
........Oculocerebrocutaneous syndrome (C538088)
Sister Nodes:
..Agenesis of Corpus Callosum (D061085) 59
..Aicardi-Goutieres syndrome (C535607) 1
..Aicardi-Goutieres Syndrome 3 (C563683)
..Aicardi-Goutieres Syndrome 4 (C563681)
..Aicardi-Goutieres syndrome 5 (C535608)
..Athabaskan brainstem dysgenesis (C535397)
..Central Nervous System Cysts (D020863) 11
..Central Nervous System Vascular Malformations (D020785) 10
..Cerebellar Hypoplasia (C562568)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Dandy-Walker Syndrome (D003616) 13
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Hydranencephaly (D006832) 3
..Malformations of Cortical Development (D054220) 226
..Median-Ulnar Nerve Communications (C563598)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 6 (C566440)
..Neural Tube Defects (D009436) 55
..Schisis association (C536633)
..Septo-Optic Dysplasia (D025962) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1899
Name:	Central Nervous System Cysts
Definition:	Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.
Alternative IDs:
ParentIDs:	MESH:D009421\|MESH:D016543
TreeNumbers:	C04.588.614.250.387 \|C10.500.142 \|C10.551.240.375 \|C16.131.666.142
Synonyms:	Cleft Cysts, Rathke's \|Cysts, Central Nervous System \|Cysts, Rathke Cleft \|Cysts, Suprasellar \|Cyst, Suprasellar \|Rathke Cleft Cysts \|Rathke's Cleft Cysts \|Rathkes Cleft Cysts \|Suprasellar Cyst \|Suprasellar Cysts
Slim Mappings:	Cancer\|Congenital abnormality\|Nervous system disease
Reference:	MedGen: D020863 MeSH: D020863 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants