MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: familial syndrome associated with hypertrophic cardiomyopathy (MONDO:0016329)
Parent Node: malformation syndrome with short stature (MONDO:0015329)
Parent Node: RASopathy (MONDO:0021060)
..Starting node ..Noonan syndrome and Noonan-related syndrome ()
Child Nodes:
........cardiofaciocutaneous syndrome ()
........Costello syndrome ()
........Legius syndrome ()
........Noonan syndrome ()
........Noonan syndrome with multiple lentigines ()
........Noonan syndrome-like disorder with loose anagen hair ()
Sister Nodes:
..CBL-related disorder ()
..neurofibromatosis type 1 ()
..neurofibromatosis-Noonan syndrome ()
..Noonan syndrome and Noonan-related syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20297
Name:	Noonan syndrome and Noonan-related syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal