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: Nervous System Malformations (D009421)
..Starting node ..Septo-Optic Dysplasia (D025962)
Child Nodes:
........Absence of septum pellucidum (C535562)
........Growth Hormone Deficiency With Pituitary Anomalies (C567632)
........Hypopituitarism and septooptic 'dysplasia' (C531815)
........Marshall-Smith syndrome (C536026)
........Optic nerve hypoplasia, familial bilateral (C537130)
........Pagon Stephan syndrome (C538100)
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:	10132
Name:	Septo-Optic Dysplasia
Definition:	A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
Alternative IDs:
ParentIDs:	MESH:D009421
TreeNumbers:	C10.500.840 \|C16.131.666.845
Synonyms:	De Morsier Syndrome \|Dysplasia, Septooptic \|Dysplasias, Septooptic \|Morsier Syndrome, De \|Septooptic Dysplasia \|Septooptic Dysplasias \|Septo Optic Dysplasia with Growth Hormone Deficiency \|Septo-Optic Dysplasia with Growth Hormone Deficiency \|Syndrome, De Morsie
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: D025962 MeSH: D025962 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants