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 oxycephaly ()
Child Nodes:
........craniosynostosis 1 ()
........craniosynostosis 6 ()
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:	18971
Name:	isolated oxycephaly
Definition:	Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	acrocephaly; hypsicephaly; hypsocephaly; pyrgocephaly; turricephaly
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal