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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: Cherubism (D002636)
Parent Node: Growth Disorders (D006130)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Al Gazali Khidr Prem Chandran syndrome (C535616)
Child Nodes:
Sister Nodes:
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Behr syndrome (C537669)
..CAPOS syndrome (C535351)
..Costeff optic atrophy syndrome (C535311)
..Jensen syndrome (C537568)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mohr-Tranebjaerg syndrome (C535808)
..Optic Atrophies, Hereditary (D015418) 30
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Optic atrophy, X-linked (C537125)
..PEHO syndrome (C536317)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Ataxia (C564815)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Treft Sanborn Carey syndrome (C536544)
..Warburg Sjo Fledelius syndrome (C536681)
..Wolfram Syndrome 2 (C565733)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	427
Name:	Al Gazali Khidr Prem Chandran syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002636\|MESH:D006130\|MESH:D009896
TreeNumbers:	C05.116.099.708.375.199/C535616 \|C05.500.174/C535616 \|C07.320.173/C535616 \|C10.292.700.225/C535616 \|C11.640.451/C535616 \|C16.131.621.207.540.170/C535616 \|C16.320.170/C535616 \|C23.550.393/C535616
Synonyms:	Cherubism, optic atrophy and short stature
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)
Reference:	MedGen: C535616 MeSH: C535616 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants