Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ANGIOEDEMA, HEREDITARY, TYPE I

Synonyms

HAE2

ID

http://purl.bioontology.org/ontology/OMIM/106100

altLabel

HAE2

C1 ESTERASE INHIBITOR, DEFICIENCY OF

HANE

ANGIONEUROTIC EDEMA, HEREDITARY

HAE1

ANGIOEDEMA, HEREDITARY, TYPE II

cui

C1862892

C2717906

C0019243

Gene Locus

11q11-q13.1

Gene Symbol

C1NH

HAE2

SERPING1

HAE1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU019546

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU019550

http://purl.bioontology.org/ontology/OMIM/MTHU024375

http://purl.bioontology.org/ontology/OMIM/MTHU026769

http://purl.bioontology.org/ontology/OMIM/MTHU024378

http://purl.bioontology.org/ontology/OMIM/MTHU024376

http://purl.bioontology.org/ontology/OMIM/MTHU024371

http://purl.bioontology.org/ontology/OMIM/MTHU036406

http://purl.bioontology.org/ontology/OMIM/MTHU024377

http://purl.bioontology.org/ontology/OMIM/MTHU024369

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU019553

http://purl.bioontology.org/ontology/OMIM/MTHU019547

http://purl.bioontology.org/ontology/OMIM/MTHU019551

http://purl.bioontology.org/ontology/OMIM/MTHU024379

http://purl.bioontology.org/ontology/OMIM/MTHU024372

http://purl.bioontology.org/ontology/OMIM/MTHU024370

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU019548

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

106100

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ANGIOEDEMA, HEREDITARY, TYPE I

tui

T047

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http://purl.bioontology.org/ontology/MESH/D054179 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056829 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056829 Medical Subject Headings CUI