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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: Septo-Optic Dysplasia (D025962)
..Starting node ..Pagon Stephan syndrome (C538100)
Child Nodes:
Sister Nodes:
..Absence of septum pellucidum (C535562)
..Growth Hormone Deficiency With Pituitary Anomalies (C567632)
..Hypopituitarism and septooptic 'dysplasia' (C531815)
..Marshall-Smith syndrome (C536026)
..Optic nerve hypoplasia, familial bilateral (C537130)
..Pagon Stephan syndrome (C538100)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8509
Name:	Pagon Stephan syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D025962
TreeNumbers:	C10.500.840/C538100 \|C16.131.666.845/C538100
Synonyms:	Septo-optic dysplasia with digital anomalies
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: C538100 MeSH: C538100 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants