Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	ARYLSULFATASE A
Synonyms	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE METACHROMATIC LEUKODYSTROPHY, LATE-ONSET ARYLSULFATASE A POLYMORPHISM METACHROMATIC LEUKODYSTROPHY ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE ARYLSULFATASE A, ALLELE I METACHROMATIC LEUKODYSTROPHY, ADULT METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE ARYLSULFATASE A, ALLELE A METACHROMATIC LEUKODYSTROPHY, JUVENILE CEREBROSIDE-SULFATASE METACHROMATIC LEUKODYSTROPHY, MILD ARYLSULFATASE A PSEUDODEFICIENCY METACHROMATIC LEUKODYSTROPHY, SEVERE CEREBROSIDE 3-SULFATASE ARSA
ID	http://purl.bioontology.org/ontology/OMIM/607574
altLabel	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE METACHROMATIC LEUKODYSTROPHY, LATE-ONSET ARYLSULFATASE A POLYMORPHISM METACHROMATIC LEUKODYSTROPHY ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE ARYLSULFATASE A, ALLELE I METACHROMATIC LEUKODYSTROPHY, ADULT METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE ARYLSULFATASE A, ALLELE A METACHROMATIC LEUKODYSTROPHY, JUVENILE CEREBROSIDE-SULFATASE METACHROMATIC LEUKODYSTROPHY, MILD ARYLSULFATASE A PSEUDODEFICIENCY METACHROMATIC LEUKODYSTROPHY, SEVERE CEREBROSIDE 3-SULFATASE ARSA
cui	C4017847 C1412553 C0751278 C0023522 C4017094 C4017096 C1969693 C4017092 C0751279 C4017095 C4017093 C1843587 C4017091 C0751276
Gene Locus	22q13.31-qter
Gene Symbol	ARSA
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/607574.0043 http://purl.bioontology.org/ontology/OMIM/607574.0045 http://purl.bioontology.org/ontology/OMIM/607574.0046 http://purl.bioontology.org/ontology/OMIM/607574.0042 http://purl.bioontology.org/ontology/OMIM/607574.0044 http://purl.bioontology.org/ontology/OMIM/607574.0047 http://purl.bioontology.org/ontology/OMIM/607574.0040 http://purl.bioontology.org/ontology/OMIM/607574.0012 http://purl.bioontology.org/ontology/OMIM/607574.0018 http://purl.bioontology.org/ontology/OMIM/607574.0011 http://purl.bioontology.org/ontology/OMIM/607574.0016 http://purl.bioontology.org/ontology/OMIM/607574.0014 http://purl.bioontology.org/ontology/OMIM/607574.0019 http://purl.bioontology.org/ontology/OMIM/607574.0017 http://purl.bioontology.org/ontology/OMIM/607574.0013 http://purl.bioontology.org/ontology/OMIM/607574.0010 http://purl.bioontology.org/ontology/OMIM/607574.0015 http://purl.bioontology.org/ontology/OMIM/607574.0035 http://purl.bioontology.org/ontology/OMIM/607574.0037 http://purl.bioontology.org/ontology/OMIM/607574.0038 http://purl.bioontology.org/ontology/OMIM/607574.0039 http://purl.bioontology.org/ontology/OMIM/607574.0031 http://purl.bioontology.org/ontology/OMIM/607574.0034 http://purl.bioontology.org/ontology/OMIM/607574.0033 http://purl.bioontology.org/ontology/OMIM/607574.0030 http://purl.bioontology.org/ontology/OMIM/607574.0032 http://purl.bioontology.org/ontology/OMIM/607574.0036 http://purl.bioontology.org/ontology/OMIM/607574.0027 http://purl.bioontology.org/ontology/OMIM/607574.0028 http://purl.bioontology.org/ontology/OMIM/607574.0025 http://purl.bioontology.org/ontology/OMIM/607574.0022 http://purl.bioontology.org/ontology/OMIM/607574.0024 http://purl.bioontology.org/ontology/OMIM/607574.0021 http://purl.bioontology.org/ontology/OMIM/607574.0026 http://purl.bioontology.org/ontology/OMIM/607574.0020 http://purl.bioontology.org/ontology/OMIM/607574.0023 http://purl.bioontology.org/ontology/OMIM/607574.0029 http://purl.bioontology.org/ontology/OMIM/607574.0003 http://purl.bioontology.org/ontology/OMIM/607574.0005 http://purl.bioontology.org/ontology/OMIM/607574.0007 http://purl.bioontology.org/ontology/OMIM/607574.0004 http://purl.bioontology.org/ontology/OMIM/607574.0008 http://purl.bioontology.org/ontology/OMIM/607574.0002 http://purl.bioontology.org/ontology/OMIM/607574.0001 http://purl.bioontology.org/ontology/OMIM/607574.0009 http://purl.bioontology.org/ontology/OMIM/607574.0006
MIMTYPEMEANING	Gene with known sequence
notation	607574
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ARYLSULFATASE A
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP33211-1	LOINC	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74410	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40VL	RCD	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74420	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/40802007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40802007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74400	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/47683004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/47683004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D007966	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/F1003	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/396338004	SCTSPA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001834	NDFRT	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74400	SNMI	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44359008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10067609	MDRFRE	CUI
http://purl.bioontology.org/ontology/CSP/1849-5593	CRISP	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.29	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.25	ICD10CM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10067609	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/396338004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRGER/10067609	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/24326000	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74440	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/X40VN	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24326000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/44359008	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D007966	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/44359008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X40VM	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74430	SNMI	CUI
http://purl.obolibrary.org/obo/NCIT_C103932	BERO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0007804	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_121427	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15951	HRDO	LOOM
http://purl.obolibrary.org/obo/PR_000004321	PR	LOOM
http://purl.obolibrary.org/obo/PR_000004321	NIFSTD	LOOM
http://www.case.edu/EpilepsyOntology.owl#ARSA	EPSO	LOOM
http://purl.obolibrary.org/obo/dinto_4200	DINTO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103932	NCIT	LOOM