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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: Craniosynostoses (D003398)
Parent Node: Thanatophoric Dysplasia (D013796)
..Starting node ..Skeletal dysplasia, San Diego type (C536670)
Child Nodes:
Sister Nodes:
..Kozlowski Warren Fisher syndrome (C537614)
..Larsen like syndrome, lethal type (C537872)
..Platyspondylic Lethal Skeletal Dysplasia, Torrance Type (C563627)
..Short limb dwarf lethal Colavita Kozlowski type (C537597)
..Skeletal dysplasia, San Diego type (C536670)
..Thanatophoric dysplasia Glasgow variant (C536506)
..Thanatophoric dysplasia, type 2 (C536508)
..Thanatophoric Dysplasia, Type I (C566844)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10270
Name:	Skeletal dysplasia, San Diego type
Definition:
Alternative IDs:
ParentIDs:	MESH:D003398\|MESH:D013796
TreeNumbers:	C05.116.099.343.110.500/C536670 \|C05.116.099.370.894.232/C536670 \|C05.116.099.708.017.500/C536670 \|C05.660.207.240/C536670 \|C05.660.207.707.249/C536670 \|C05.660.585.984/C536670 \|C05.660.906.364/C536670 \|C16.131.621.207.240/C536670 \|C16.131.621.207.707.249/C53667
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Infant-newborn disease\|Musculoskeletal disease
Reference:	MedGen: C536670 MeSH: C536670 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants