MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*: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)
..Starting node ..isolated scaphocephaly ()
Child Nodes:
........craniosynostosis 1 ()
Sister Nodes:
..familial lambdoid synostosis ()
..isolated brachycephaly ()
..isolated cloverleaf skull syndrome ()
..isolated oxycephaly ()
..isolated plagiocephaly ()
..isolated scaphocephaly ()
..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:	18112
Name:	isolated scaphocephaly
Definition:	Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	isolated dolichocephaly; non-syndromic sagittal synostosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal