Preferred Name

Spinal Muscular Atrophy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85075

code

C85075

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193006

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C193194

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

mCode

GDC

Cellosaurus

DEFINITION

An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.

FULL_SYN

Spinal Muscular Atrophy

Spinal muscular atrophy, unspecified

Is_Value_For_GDC_Property

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81239

label

Spinal Muscular Atrophy

Maps_To

Spinal Muscular Atrophy

Preferred_Name

Spinal Muscular Atrophy

prefixIRI

Thesaurus:C85075

prefLabel

Spinal Muscular Atrophy

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0026847

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C197818

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http://purl.bioontology.org/ontology/LNC/LP288641-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/8B61 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU047788 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_12377 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_12377 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0001516 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/HP_0007269 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA22279-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU062169 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://www.ebi.ac.uk/efo/EFO_0008525 Experimental Factor Ontology / 实验性因素本体 LOOM