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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: Corneal Diseases (D003316)
Parent Node: Kidney Diseases (D007674)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Arnold Stickler Bourne syndrome (C537431)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	855
Name:	Arnold Stickler Bourne syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003316\|MESH:D007674\|MESH:D009133
TreeNumbers:	C10.597.613.612/C537431 \|C11.204/C537431 \|C12.777.419/C537431 \|C13.351.968.419/C537431 \|C23.300.070.500/C537431 \|C23.888.592.608.612/C537431
Synonyms:	Corneal crystals myopathy and nephropathy
Slim Mappings:	Eye disease\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537431 MeSH: C537431 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants