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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: Abnormalities, Multiple (D000015)
Parent Node: Anencephaly (D000757)
..Starting node ..XK aprosencephaly (C536767)
Child Nodes:
Sister Nodes:
..Anencephaly and spina bifida X-linked (C536359)
..Aprosencephaly and Cerebellar Dysgenesis (C563331)
..Neural tube defect, folate-sensitive (C536409)
..XK aprosencephaly (C536767)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11836
Name:	XK aprosencephaly
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D000757
TreeNumbers:	C10.500.680.196/C536767 \|C16.131.077/C536767 \|C16.131.085.197/C536767 \|C16.131.666.680.196/C536767
Synonyms:	Aprosencephaly-atelencephaly syndrome \|Aprosencephaly syndrome \|Garcia-Lurie syndrome \|XK-aprosencephaly syndrome \|XK syndrome
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: C536767 MeSH: C536767 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants