Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Metachromatic Leukodystrophy due to Saposin B Deficiency

Synonyms

Saposin B Deficiency

ID

http://purl.bioontology.org/ontology/MESH/C562609

altLabel

Saposin B Deficiency

Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency

cui

C0268262

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000172

HM

D007966

D049231/Q000172

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D007966

http://purl.bioontology.org/ontology/MESH/D049231

MDA

20121105

MeSH Frequency

3

MMR

20131106

notation

C562609

prefLabel

Metachromatic Leukodystrophy due to Saposin B Deficiency

SC

3

TERMUI

T827126

T801062

T827125

TH

OMIM (2013)

tui

T047

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http://purl.obolibrary.org/obo/MONDO_0009590 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/176801 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/249900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/249900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU023237 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI