Medical Subject Headings / 医学主题词表

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Preferred Name

Achondroplasia
Synonyms

Syndrome, Skeleton-Skin-Brain
Definitions

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
ID

http://purl.bioontology.org/ontology/MESH/D000130
altLabel

Syndrome, Skeleton-Skin-Brain

SADDAN Dysplasias

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

Dysplasias, SADDAN

Syndromes, Skeleton-Skin-Brain

SADDAN

Achondroplasias

SADDANs

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

SADDAN Dysplasia

Skeleton-Skin-Brain Syndrome

Skeleton-Skin-Brain Syndromes

Skeleton Skin Brain Syndrome

Dysplasia, SADDAN
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0001080

C2674173
DC

1
definition

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
DX

19660101
FX

D051498
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of RO

http://purl.bioontology.org/ontology/MESH/D051498
Mapped from

http://purl.bioontology.org/ontology/MESH/C535820

http://purl.bioontology.org/ontology/MESH/C536019

http://purl.bioontology.org/ontology/MESH/C536016

http://purl.bioontology.org/ontology/MESH/C531599

http://purl.bioontology.org/ontology/MESH/C537794

http://purl.bioontology.org/ontology/MESH/C536020

http://purl.bioontology.org/ontology/MESH/C536018

http://purl.bioontology.org/ontology/MESH/C565984

http://purl.bioontology.org/ontology/MESH/C536015

http://purl.bioontology.org/ontology/MESH/C537999

http://purl.bioontology.org/ontology/MESH/C535819

http://purl.bioontology.org/ontology/MESH/C536017
MDA

19990101
MMR

20130708
MN

C05.116.099.343.110

C05.116.099.708.017

C16.320.240.500
notation

D000130
prefLabel

Achondroplasia
TERMUI

T842409

T774186

T000387

T774184

T823974

T809866
TH

NLM (1966)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T019
subClassOf

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D004392
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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
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/OMIM/134934 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
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.bmicc.cn/ontology/ICD11CN/LD24.00 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q77.4 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/OMIM/100800 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
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/OMIM/616482 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
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 CUI
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