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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: Congenital Abnormalities (D000013)
Parent Node: Mandibulofacial Dysostosis (D008342)
..Starting node ..Patterson Stevenson syndrome (C536311)
Child Nodes:
........POLYDACTYLY, PREAXIAL II (OMIM:174500)
Sister Nodes:
..Acrofacial dysostosis Catania form (C538182)
..Acrofacial dysostosis Rodriguez type (C538183)
..Acrofacial dysostosis, Nager type (C538184)
..Acrofacial dysostosis, Palagonia type (C538185)
..Acrofrontofacionasal dysostosis syndrome (C538186)
..Acromelic Frontonasal Dysostosis (C566345)
..Branchial arch syndrome X-linked (C537102)
..Fara Chlupackova syndrome (C537074)
..Genee-Wiedemann syndrome (C537680)
..Goldenhar Syndrome (D006053) 1
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
..Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant (C564267)
..Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive (C535707)
..Opitz Reynolds Fitzgerald syndrome (C535713)
..Patterson Stevenson syndrome (C536311) 1
..Richieri Costa Guion-Almeida syndrome (C535676)
..TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8725
Name:	Patterson Stevenson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D008342
TreeNumbers:	C05.116.099.370.231.576/C536311 \|C05.660.207.231.576/C536311 \|C16.131.621.207.231.576/C536311 \|C16.131/C536311
Synonyms:	Patterson Stevenson Fontaine syndrome \|Patterson-Stevenson-Fontaine Syndrome \|Polydactyly of Triphalangeal Thumb \|Polydactyly, Preaxial II \|Split-foot deformity with ectrodactyly and mandibulofacial dysostosis \|Split-Foot Deformity With Mandibulofacial Dysost
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: C536311 MeSH: C536311 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants