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: Genetic Diseases, X-Linked (D040181)
Parent Node: Spinal Dysraphism (D016135)
..Starting node ..Spina Bifida, X-Linked (C564459)
Child Nodes:
Sister Nodes:
..Anencephaly and spina bifida X-linked (C536359)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Spina Bifida Cystica (D016137) 1
..Spina Bifida Occulta (D016136) 1
..Spina Bifida, Folate-Sensitive (C566648)
..Spina Bifida, X-Linked (C564459)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10455
Name:	Spina Bifida, X-Linked
Definition:
Alternative IDs:
ParentIDs:	MESH:D016135\|MESH:D040181
TreeNumbers:	C10.500.680.800/C564459 \|C16.131.666.680.800/C564459 \|C16.320.322/C564459
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C564459 MeSH: C564459 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants