Online Mendelian Inheritance in Man - METACHROMATIC LEUKODYSTROPHY - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	METACHROMATIC LEUKODYSTROPHY
Synonyms	ARYLSULFATASE A DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/250100
altLabel	ARYLSULFATASE A DEFICIENCY SULFATIDE LIPIDOSIS METACHROMATIC LEUKOENCEPHALOPATHY METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE PSEUDOARYLSULFATASE A DEFICIENCY CEREBROSIDE SULFATASE DEFICIENCY MLD CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM METACHROMATIC LEUKODYSTROPHY, JUVENILE ARSA DEFICIENCY METACHROMATIC LEUKODYSTROPHY, ADULT
cui	C0751279 C2713319 C0751278 C0751276 C0023522 C1855255
Gene Locus	22q13.31-qter
Gene Symbol	ARSA
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008026 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU002302 http://purl.bioontology.org/ontology/OMIM/MTHU003622 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU028212 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU010474 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU003012 http://purl.bioontology.org/ontology/OMIM/MTHU036392 http://purl.bioontology.org/ontology/OMIM/MTHU011629 http://purl.bioontology.org/ontology/OMIM/MTHU003010 http://purl.bioontology.org/ontology/OMIM/MTHU011639 http://purl.bioontology.org/ontology/OMIM/MTHU011633 http://purl.bioontology.org/ontology/OMIM/MTHU011635 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU004025 http://purl.bioontology.org/ontology/OMIM/MTHU011647 http://purl.bioontology.org/ontology/OMIM/MTHU002306 http://purl.bioontology.org/ontology/OMIM/MTHU011630 http://purl.bioontology.org/ontology/OMIM/MTHU011645 http://purl.bioontology.org/ontology/OMIM/MTHU011643 http://purl.bioontology.org/ontology/OMIM/MTHU011637 http://purl.bioontology.org/ontology/OMIM/MTHU011631 http://purl.bioontology.org/ontology/OMIM/MTHU009746 http://purl.bioontology.org/ontology/OMIM/MTHU011640 http://purl.bioontology.org/ontology/OMIM/MTHU003009 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU011632 http://purl.bioontology.org/ontology/OMIM/MTHU011638 http://purl.bioontology.org/ontology/OMIM/MTHU011628 http://purl.bioontology.org/ontology/OMIM/MTHU011644 http://purl.bioontology.org/ontology/OMIM/MTHU011636 http://purl.bioontology.org/ontology/OMIM/MTHU011634 http://purl.bioontology.org/ontology/OMIM/MTHU010663 http://purl.bioontology.org/ontology/OMIM/MTHU002750 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU011641 http://purl.bioontology.org/ontology/OMIM/MTHU011646
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	250100
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	METACHROMATIC LEUKODYSTROPHY
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bmicc.cn/ontology/ICD11CN/5C56.02	International Classification of Diseases, 11th Edition, China	LOOM
	http://purl.obolibrary.org/obo/DOID_10581	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/ICD10CM/E75.25	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E75.25	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
	http://purl.bioontology.org/ontology/MESH/D007966	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D007966	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D007966	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D007966	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D007966	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E75.29	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/C565403	Medical Subject Headings	CUI
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61251	National Cancer Institute Thesaurus	LOOM