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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: Abnormalities, Multiple (D000015)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Dysostoses (D004413)
Parent Node: Sex Chromosome Disorders (D025064)
..Starting node ..Orofaciodigital Syndromes (D009958)
Child 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)
Sister Nodes:
..47, XYY syndrome (C535317)
..49,XXXXX syndrome (C535319)
..Chromosome Xq duplication syndrome (C536732)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Fragile X Syndrome (D005600) 3
..Orofaciodigital Syndromes (D009958) 14
..Sex Chromosome Disorders of Sex Development (D058533) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8345
Name:	Orofaciodigital Syndromes
Definition:	Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D004413\|MESH:D019465\|MESH:D025064
TreeNumbers:	C05.116.099.370.652 \|C05.660.207.700 \|C16.131.077.677 \|C16.131.260.830.670 \|C16.131.621.207.700 \|C16.320.180.830.670
Synonyms:	Dysplasia Linguofacialis \|Gorlin Psaume Syndrome \|Gorlin-Psaume Syndrome \|Mohr Syndrome \|Oral-Facial-Digital Syndrome \|Oral Facial Digital Syndrome, Type I \|Oral-Facial-Digital Syndrome, Type I \|Oral Facial Digital Syndrome, Type II \|Oral-Facial-Digital Syndrome
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: D009958 MeSH: D009958 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants