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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: Achondroplasia (D000130)
..Starting node ..Achondroplastic dwarfism (C531599)
Child Nodes:
Sister Nodes:
..Achondrogenesis type 1A (C536015)
..Achondrogenesis type 1B (C536016)
..Achondrogenesis type 2 (C536017)
..Achondrogenesis, type 3 (C536018)
..Achondrogenesis, type 4 (C536019)
..Achondroplasia and Swiss type agammaglobulinemia (C536020)
..Achondroplastic dwarfism (C531599)
..Baby rattle pelvic dysplasia (C537794)
..Dyssegmental dysplasia, Rolland-Desbuquois type (C537999)
..Pseudoachondroplasia (C535819)
..Pseudoachondroplastic dysplasia 2 (C535820)
..Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984)
..Thanatophoric Dysplasia (D013796) 8
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	144
Name:	Achondroplastic dwarfism
Definition:
Alternative IDs:
ParentIDs:	MESH:D000130
TreeNumbers:	C05.116.099.343.110/C531599 \|C05.116.099.708.017/C531599 \|C16.320.240.500/C531599
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: C531599 MeSH: C531599 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants