Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
ID

http://purl.bioontology.org/ontology/OMIM/612951
cui

C2751843
Gene Locus

6q27
Gene Symbol

RNASE6PL

RNASET2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU004613

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU024758

http://purl.bioontology.org/ontology/OMIM/MTHU024750

http://purl.bioontology.org/ontology/OMIM/MTHU024752

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU024760

http://purl.bioontology.org/ontology/OMIM/MTHU024754

http://purl.bioontology.org/ontology/OMIM/MTHU030230

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU003929

http://purl.bioontology.org/ontology/OMIM/MTHU003586

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU024755

http://purl.bioontology.org/ontology/OMIM/MTHU024753

http://purl.bioontology.org/ontology/OMIM/MTHU024759

http://purl.bioontology.org/ontology/OMIM/MTHU024757

http://purl.bioontology.org/ontology/OMIM/MTHU024751

http://purl.bioontology.org/ontology/OMIM/MTHU019082

http://purl.bioontology.org/ontology/OMIM/MTHU021287

http://purl.bioontology.org/ontology/OMIM/MTHU000195
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612951
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567845 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567845 Medical Subject Headings LOOM