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: Genetic Diseases, X-Linked (D040181)
Parent Node: Neural Tube Defects (D009436)
..Starting node ..Midline Defects, X-Linked (C564054)
Child Nodes:
Sister Nodes:
..Acalvaria (C535570)
..Anencephaly (D000757) 4
..Arnold-Chiari Malformation (D001139) 1
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Encephalocele (D004677) 24
..Meningocele (D008588) 5
..Meningomyelocele (D008591) 3
..Midline Defects, X-Linked (C564054)
..Neural tube defects X-linked (C536410)
..Pentalogy of Cantrell (D058502)
..Spinal Dysraphism (D016135) 10
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7271
Name:	Midline Defects, X-Linked
Definition:
Alternative IDs:
ParentIDs:	MESH:D009436\|MESH:D040181
TreeNumbers:	C10.500.680/C564054 \|C16.131.666.680/C564054 \|C16.320.322/C564054
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C564054 MeSH: C564054 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants