Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Complement component 5 deficiency
Synonyms

Dysfunction of the fifth component of complement (C5)
ID

http://purl.bioontology.org/ontology/MESH/C537005
altLabel

Dysfunction of the fifth component of complement (C5)

Leiner disease
cui

C0343047
Has mapping qualifier

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

D003182/Q000172

D007153
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D007153

http://purl.bioontology.org/ontology/MESH/D003182
MDA

20100825
MeSH Frequency

118
MMR

20160711
notation

C537005
prefLabel

Complement component 5 deficiency
SC

3
Scope Statement

Dysfunction of complement 5 due to homozygous or compound heterozygous mutation in the C5 gene and characterized by SEBORRHEIC DERMATITIS, intractable diarrhea, GRAM-NEGATIVE BACTERIAL INFECTIONS, and severe wasting. OMIM: 609536
TERMUI

T741150

T741153

T741151
TH

ORD (2010)

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_8158 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/120900 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/609536 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/609536 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10/L21.1 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/L21.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/L21.1 International Classification of Diseases, 10th Edition, China CUI