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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: Orofaciodigital Syndromes (D009958)
..Starting node ..Orofaciodigital Syndrome 12 (C548034)
Child Nodes:
Sister Nodes:
..Juberg Hayward syndrome (C537690)
..Oral-facial-digital syndrome, type 2 (C538585)
..Orofaciodigital syndrome 11 (C557821)
..Orofaciodigital Syndrome 12 (C548034)
..Orofaciodigital Syndrome 13 (C548035)
..Orofaciodigital syndrome 3 (C557817)
..Orofaciodigital syndrome 4 (C537133)
..Orofaciodigital syndrome 5 (C557819)
..Orofaciodigital syndrome 6 (C536531)
..Orofaciodigital syndrome 8 (C557820)
..Orofaciodigital syndrome 9 (C557818)
..Orofaciodigital syndrome type1 (C537134)
..Orofaciodigital Syndrome VII (C563104)
..Orofaciodigital Syndrome X (C563491)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8337
Name:	Orofaciodigital Syndrome 12
Definition:
Alternative IDs:
ParentIDs:	MESH:D009958
TreeNumbers:	C05.116.099.370.652/C548034 \|C05.660.207.700/C548034 \|C16.131.077.677/C548034 \|C16.131.260.830.670/C548034 \|C16.131.621.207.700/C548034 \|C16.320.180.830.670/C548034
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C548034 MeSH: C548034 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants