Disease browser and phenotype portal

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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: Nervous System Malformations (D009421)
..Starting node ..Hydranencephaly (D006832)
Child Nodes:
........Encephaloclastic Proliferative Vasculopathy (C565593)
........Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
........Microhydranencephaly (C537555)
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:	5300
Name:	Hydranencephaly
Definition:	A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)
Alternative IDs:
ParentIDs:	MESH:D009421
TreeNumbers:	C10.500.450 \|C16.131.666.450
Synonyms:	Absence of Cerebral Hemispheres, Congenital \|Cerebral Hemispheres, Absence, Congenital \|Congenital Absence of Cerebral Hemispheres \|Hemihydranencephalies \|Hemihydranencephaly \|Hydranencephalies \|Hydranencephaly with Proliferative Vasculopathy
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: D006832 MeSH: D006832 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants