Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Hereditary Complement Deficiency Diseases

Synonyms

Complement Deficiency

Inherited Complement Deficiency Diseases

Definitions

Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway).

ID

http://purl.bioontology.org/ontology/MESH/D000081208

altLabel

Complement Deficiency

Complement Deficiencies

Inherited Complement Deficiency Diseases

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0272242

C5197806

DC

1

definition

Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway).

DX

20200101

HN

2020

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

2020

Mapped from

http://purl.bioontology.org/ontology/MESH/C537241

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

http://purl.bioontology.org/ontology/MESH/C572568

http://purl.bioontology.org/ontology/MESH/C565167

http://purl.bioontology.org/ontology/MESH/C565168

http://purl.bioontology.org/ontology/MESH/C565165

http://purl.bioontology.org/ontology/MESH/C565166

http://purl.bioontology.org/ontology/MESH/C565169

http://purl.bioontology.org/ontology/MESH/C565360

http://purl.bioontology.org/ontology/MESH/C567307

http://purl.bioontology.org/ontology/MESH/C567308

http://purl.bioontology.org/ontology/MESH/C565170

http://purl.bioontology.org/ontology/MESH/C566443

http://purl.bioontology.org/ontology/MESH/C565027

http://purl.bioontology.org/ontology/MESH/C562875

http://purl.bioontology.org/ontology/MESH/C564075

http://purl.bioontology.org/ontology/MESH/C564076

MDA

20190708

MMR

20220523

MN

C20.673.795.500

C16.320.798.500

notation

D000081208

prefLabel

Hereditary Complement Deficiency Diseases

TERMUI

T000958811

T000958668

T000958810

TH

NLM (2020)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D000081207

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