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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

Disease Browser
Parent Node: Cleft Palate (D002972)
Parent Node: Craniofacial Dysostosis (D003394)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Maxillofacial Abnormalities (D019767)
..Starting node ..Oculomaxillofacial dysostosis (C537736)
Child Nodes:
Sister Nodes:
..Abruzzo Erickson syndrome (C535559)
..Ackerman syndrome (C538170)
..Bifid Nose, Autosomal Dominant (C567781)
..Cherubism (D002636) 2
..Dentofacial Deformities (D063169)
..Jaw Abnormalities (D007569) 158
..Maxillofacial Dysostosis (C563599)
..Maxillonasal dysplasia, Binder type (C536036)
..Oculomaxillofacial dysostosis (C537736)
..Robinow syndrome, autosomal recessive (C535863)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8187
Name:	Oculomaxillofacial dysostosis
Definition:
Alternative IDs:
ParentIDs:	MESH:D002972\|MESH:D003394\|MESH:D005124\|MESH:D019767
TreeNumbers:	C05.116.099.370.231/C537736 \|C05.500.460.185/C537736 \|C05.660.207.231/C537736 \|C05.660.207.540.460.185/C537736 \|C05.660.207.540/C537736 \|C07.320.440.185/C537736 \|C07.465.525.185/C537736 \|C07.650.500.460.185/C537736 \|C07.650.500/C537736 \|C07.650.525.185/C537736 \|C1
Synonyms:	Oblique facial clefts \|Oculomaxillofacial dysplasia with oblique facial clefts \|Richieri Costa Gorlin syndrome
Slim Mappings:	Congenital abnormality\|Eye disease\|Mouth disease\|Musculoskeletal disease
Reference:	MedGen: C537736 MeSH: C537736 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants