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Preferred Name

SPASTIN
Synonyms

SPG4 GENE
ID

http://purl.bioontology.org/ontology/OMIM/604277
altLabel

SPG4 GENE

SPASTIC PARAPLEGIA 4

SPAST

SPASTIC PARAPLEGIA 4, MODIFIER OF

SPG4
cui

C4016882

C3711371

C1539809
Gene Locus

2p22-p21
Gene Symbol

SPAST

SPG4
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/604277.0001

http://purl.bioontology.org/ontology/OMIM/604277.0020

http://purl.bioontology.org/ontology/OMIM/604277.0012

http://purl.bioontology.org/ontology/OMIM/604277.0014

http://purl.bioontology.org/ontology/OMIM/604277.0013

http://purl.bioontology.org/ontology/OMIM/604277.0005

http://purl.bioontology.org/ontology/OMIM/604277.0007

http://purl.bioontology.org/ontology/OMIM/604277.0021

http://purl.bioontology.org/ontology/OMIM/604277.0019

http://purl.bioontology.org/ontology/OMIM/604277.0008

http://purl.bioontology.org/ontology/OMIM/604277.0022

http://purl.bioontology.org/ontology/OMIM/604277.0002

http://purl.bioontology.org/ontology/OMIM/604277.0003

http://purl.bioontology.org/ontology/OMIM/604277.0010

http://purl.bioontology.org/ontology/OMIM/604277.0011

http://purl.bioontology.org/ontology/OMIM/604277.0004

http://purl.bioontology.org/ontology/OMIM/604277.0015

http://purl.bioontology.org/ontology/OMIM/604277.0016

http://purl.bioontology.org/ontology/OMIM/604277.0018

http://purl.bioontology.org/ontology/OMIM/604277.0017

http://purl.bioontology.org/ontology/OMIM/604277.0009
MIMTYPEMEANING

Gene with known sequence
notation

604277
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

SPASTIN
tui

T028

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP71376-5 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.obolibrary.org/obo/PR_000015477 Protein Ontology / 蛋白质本体 LOOM
http://www.orpha.net/ORDO/Orphanet_119801 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C580456 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D000074181 Medical Subject Headings / 医学主题词表 LOOM