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Preferred Name

SURVIVAL OF MOTOR NEURON 1
Synonyms

SPINAL MUSCULAR ATROPHY, TYPE III
ID

http://purl.bioontology.org/ontology/OMIM/600354
altLabel

SPINAL MUSCULAR ATROPHY, TYPE III

SPINAL MUSCULAR ATROPHY, TYPE IV

SMN1

SMN

SPINAL MUSCULAR ATROPHY, TYPE I

SMNT

T-BCD541

SURVIVAL OF MOTOR NEURON, TELOMERIC COPY

SPINAL MUSCULAR ATROPHY, TYPE II
cui

C1838230

C0043116

C0152109

C0393538

C1420257
Gene Locus

5q12.2-q13.3
Gene Symbol

SMA3

SMA2

SMA4

SMA1

SMN1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600354.0015

http://purl.bioontology.org/ontology/OMIM/600354.0013

http://purl.bioontology.org/ontology/OMIM/600354.0007

http://purl.bioontology.org/ontology/OMIM/600354.0008

http://purl.bioontology.org/ontology/OMIM/600354.0006

http://purl.bioontology.org/ontology/OMIM/600354.0019

http://purl.bioontology.org/ontology/OMIM/600354.0009

http://purl.bioontology.org/ontology/OMIM/600354.0010

http://purl.bioontology.org/ontology/OMIM/600354.0004

http://purl.bioontology.org/ontology/OMIM/600354.0011

http://purl.bioontology.org/ontology/OMIM/600354.0012

http://purl.bioontology.org/ontology/OMIM/600354.0003

http://purl.bioontology.org/ontology/OMIM/600354.0005

http://purl.bioontology.org/ontology/OMIM/600354.0016

http://purl.bioontology.org/ontology/OMIM/600354.0018

http://purl.bioontology.org/ontology/OMIM/600354.0017

http://purl.bioontology.org/ontology/OMIM/600354.0020

http://purl.bioontology.org/ontology/OMIM/600354.0001

http://purl.bioontology.org/ontology/OMIM/600354.0002

http://purl.bioontology.org/ontology/OMIM/600354.0021

http://purl.bioontology.org/ontology/OMIM/600354.0014
MIMTYPEMEANING

Gene with known sequence
notation

600354
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

SURVIVAL OF MOTOR NEURON 1
tui

T028

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G12.0 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/MESH/C563948 Medical Subject Headings / 医学主题词表 CUI
http://purl.bmicc.cn/ontology/ICD10CN/G12.0 《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/MESH/D014897 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D014897 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D014897 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP33177-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10/G12.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/LNC/MTHU062167 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/ICD10CM/G12.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI