Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
Synonyms

METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/249900
altLabel

METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY

SAPOSIN B DEFICIENCY
cui

C0268262
Gene Locus

10q22.1
Gene Symbol

PSAP

SAP1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU023241

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU001672

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU020670

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU032261

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU002306

http://purl.bioontology.org/ontology/OMIM/MTHU023238

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU036428

http://purl.bioontology.org/ontology/OMIM/MTHU023240

http://purl.bioontology.org/ontology/OMIM/MTHU023236

http://purl.bioontology.org/ontology/OMIM/MTHU023234

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU003009

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU028211

http://purl.bioontology.org/ontology/OMIM/MTHU036680

http://purl.bioontology.org/ontology/OMIM/MTHU036555

http://purl.bioontology.org/ontology/OMIM/MTHU011421

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU023235

http://purl.bioontology.org/ontology/OMIM/MTHU023237
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

249900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C562609 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562609 Medical Subject Headings LOOM