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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: Nijmegen Breakage Syndrome (D049932)
..Starting node ..Microcephaly microcornea syndrome Seemanova type (C537539)
Child Nodes:
Sister Nodes:
..Microcephaly microcornea syndrome Seemanova type (C537539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7179
Name:	Microcephaly microcornea syndrome Seemanova type
Definition:
Alternative IDs:
ParentIDs:	MESH:D040181\|MESH:D049932
TreeNumbers:	C16.320.322/C537539 \|C18.452.284.600/C537539
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease
Reference:	MedGen: C537539 MeSH: C537539 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants