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Preferred Name

季肋成长不全 / Hypochondrogenesis
Definitions

A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterized by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.
ID

http://purl.bmicc.cn/ontology/ICD11CN/LD24.51
definition

A condition caused by failure of the skeletal system to correctly develop during the antenatal period, due to mutation of the COL2A1 gene. This condition is characterized by a small body, short limbs, underdeveloped lungs, flat and oval-shaped face, hypertelorism, micrognathia, enlarged abdomen, and ossification in the spine and pelvis. This condition may also present with a cleft palate.
hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/1494246635
label

季肋成长不全 / Hypochondrogenesis
mappingRelation

http://purl.bmicc.cn/ontology/ICD10CN/Q77.0
notation

LD24.51
prefixIRI

ICD11CN:LD24.51
prefLabel

季肋成长不全 / Hypochondrogenesis
subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/LD24.5
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http://purl.bioontology.org/ontology/MESH/C563007 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0080044 Human Disease Ontology 123 LOOM