Preferred Name

软骨发育不全 / Achondroplasia

Definitions

Achondroplasia is the most frequent form of chondrodysplasia and is a type of dwarfism is characterized by short limbs, hyperlordosis, short hands, and macrocephaly with high forehead and saddle nose, with normal intellectual development.

ID

http://purl.bmicc.cn/ontology/ICD11CN/LD24.00

definition

Achondroplasia is the most frequent form of chondrodysplasia and is a type of dwarfism is characterized by short limbs, hyperlordosis, short hands, and macrocephaly with high forehead and saddle nose, with normal intellectual development.

free_Translation

http://purl.bmicc.cn/ontology/ICD10CN/Q77.4

has_exact_match

http://purl.bmicc.cn/ontology/ICD10CN/Q77.4

hasDbXref

http://id.who.int/icd/release/11/2019-04/mms/24224082

label

软骨发育不全 / Achondroplasia

notation

LD24.00

prefixIRI

ICD11CN:LD24.00

prefLabel

软骨发育不全 / Achondroplasia

subClassOf

http://purl.bmicc.cn/ontology/ICD11CN/LD24.0

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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://www.orpha.net/ORDO/Orphanet_15 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/D000130 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_4480 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_4480 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/100800 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM