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Metadata
DOID DOID:4480
Name achondroplasia
Definition An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
http://en.wikipedia.org/wiki/Achondroplasia, http://ghr.nlm.nih.gov/condition/achondroplasia, http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, http://www.medicinenet.com/achondroplasia/article.htm, http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm
Xrefs

CSP2005:2715-2940

GARD:8173

ICD10CM:Q77.4

MESH:D000130

MTHICD9_2006:756.4

NCI:C34345

OMIM:100800

SNOMEDCT_US_2018_03_01:86268005

UMLS_CUI:C0001080

Subsets

NCIthesaurus

Synonyms

Achondroplastic physique [EXACT]

Chondrodystrophia [EXACT]

osteosclerosis congenita [EXACT]

Relationships

is_a osteochondrodysplasia

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