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: craniostenosis associated with a strabismus (MONDO:0020254)
Parent Node: isolated craniosynostosis (MONDO:0015337)
Parent Node: trigonocephaly (MONDO:0000156)
..Starting node ..isolated trigonocephaly ()
Child Nodes:
........trigonocephaly 1 ()
........trigonocephaly 2 ()
Sister Nodes:
..isolated trigonocephaly ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18065
Name:	isolated trigonocephaly
Definition:	Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	non-syndromic metopic craniosynostosis; nonsyndromic trigonocephaly
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal