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Metadata
DOID DOID:0050463
Name campomelic dysplasia
Definition An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.
http://en.wikipedia.org/wiki/Campomelic_dysplasia, http://ghr.nlm.nih.gov/condition/campomelic-dysplasia, http://www.healthline.com/galecontent/campomelic-dysplasia-1
Xrefs

GARD:10027

MESH:D055036

NCI:C120205

NCI:C84609

OMIM:114290

SNOMEDCT_US_2018_03_01:74928006

UMLS_CUI:C1861922

UMLS_CUI:C1861923

Subsets

NCIthesaurus

Synonyms

Acampomelic Campomelic Dysplasia [EXACT]

Relationships

is_a osteochondrodysplasia

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