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: otomandibular dysplasia (MONDO:0015482)
..Starting node ..mandibulofacial dysostosis ()
Child Nodes:
........acrodysostosis ()
........acrodysostosis with multiple hormone resistance ()
........Fara Chlupackova syndrome ()
........mandibulofacial dysostosis with alopecia ()
........mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ()
........Treacher-Collins syndrome ()
........X-linked mandibulofacial dysostosis ()
Sister Nodes:
..mandibulofacial dysostosis ()
..oculo-auriculo-vertebral spectrum ()
..otomandibular dysplasia associated with monogenic syndromes ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15483
Name:	mandibulofacial dysostosis
Definition:	A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	bilateral and symmetric oto-mandibular dysplasia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal