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: eyelid border anomaly (MONDO:0020155)
..Starting node ..syndromic palpebral coloboma ()
Child Nodes:
........frontofacionasal dysplasia ()
........Goldenhar syndrome ()
........Nager acrofacial dysostosis ()
........nasopalpebral lipoma-coloboma syndrome ()
........postaxial acrofacial dysostosis ()
........Treacher-Collins syndrome ()
Sister Nodes:
..coloboma of eyelid ()
..isolated ankyloblepharon filiforme adnatum ()
..syndromic ankyloblepharon ()
..syndromic palpebral coloboma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20157
Name:	syndromic palpebral coloboma
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal