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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: Blepharophimosis (D016569)
Parent Node: Congenital Hypothyroidism (D003409)
Parent Node: Facies (D019066)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Intellectual Disability (D008607)
Parent Node: Joint Instability (D007593)
..Starting node ..Young Simpson syndrome (C536717)
Child Nodes:
Sister Nodes:
..Achard syndrome (C536012)
..Arterial Tortuosity Syndrome (C565942)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Daish Hardman Lamont syndrome (C535770)
..Desbuquois syndrome (C535943)
..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jaffer Beighton syndrome (C537561)
..Megarbane syndrome (C536145)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Panic Disorder with Joint Laxity (C566835)
..Patella, Familial Recurrent Dislocation Of (C566816)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Young Simpson syndrome (C536717)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11861
Name:	Young Simpson syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003409\|MESH:D006330\|MESH:D007593\|MESH:D008607\|MESH:D016569\|MESH:D019066
TreeNumbers:	C05.116.099.343.347/C536717 \|C05.116.132.256/C536717 \|C05.550.521/C536717 \|C10.597.606.643/C536717 \|C11.250.090/C536717 \|C11.338.190/C536717 \|C14.240.400/C536717 \|C14.280.400/C536717 \|C16.131.240.400/C536717 \|C16.131.384.190/C536717 \|C16.320.240.625/C536717 \|C19.29
Synonyms:	Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type \|Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type \|Mental retardation unusual facies hypothyroidism \|Ohdo Syndrome, Say-Barber-B
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Endocrine system disease\|Eye disease\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536717 MeSH: C536717 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants