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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: Craniofacial Abnormalities (D019465)
Parent Node: Epilepsy (D004827)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Lissencephaly (D054082)
..Starting node ..Fryns-Aftimos Syndrome (C565258)
Child Nodes:
Sister Nodes:
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Cobblestone Lissencephaly (D054222) 8
..Fryns-Aftimos Syndrome (C565258)
..Kuzniecky syndrome (C538091)
..Lissencephaly 3 (C566908)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Lissencephaly, Familial, with Cleft Palate and Cerebellar Hypoplasia (C565781)
..Massa Casaer Ceulemans syndrome (C536031)
..Norman Roberts lissencephaly syndrome (C537848)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Pachygyria, frontotemporal (C538092)
..Partial lissencephaly (C536298)
..Winter Harding Hyde syndrome (C536712)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4447
Name:	Fryns-Aftimos Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D004827\|MESH:D008607\|MESH:D019066\|MESH:D019465\|MESH:D054082
TreeNumbers:	C05.660.207/C565258 \|C10.228.140.490/C565258 \|C10.500.507.450.499/C565258 \|C10.597.606.643/C565258 \|C16.131.621.207/C565258 \|C16.131.666.507.450.499/C565258 \|C23.550.291.812/C565258 \|C23.888.592.604.646/C565258 \|F03.550.600/C565258
Synonyms:	Cerebrooculofacial Lymphatic Syndrome \|Mental Retardation with Epilepsy and Characteristic Facies \|Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies
Slim Mappings:	Congenital abnormality\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C565258 MeSH: C565258 OMIM: 606155; Genes:
Phenotypes
Disease Causing ClinVar Variants