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)
..Starting node ..isolated brachycephaly ()
Child Nodes:
........craniosynostosis 1 ()
........craniosynostosis 3 ()
........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:	18114
Name:	isolated brachycephaly
Definition:	Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	non-syndromic bicoronal synostosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal