Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

factor VIII deficiency

Synonyms

Congenital factor VIII disorder

Definitions

A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_12134

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D006467

SNOMEDCT_US_2022_09_01:28293008

NCI:C27146

ICD9CM:286.0

UMLS_CUI:C0019069

GARD:6591

ICD10CM:D66

OMIM:306700

ORDO:98878

definition

A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.

has exact match

MESH:D006467

has exact synonym

Congenital factor VIII disorder

classic hemophilia A

Hemophilia A

Subhemophilia

has material basis in

http://purl.obolibrary.org/obo/GENO_0000149

has_obo_namespace

disease_ontology

id

DOID:12134

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

factor VIII deficiency

notation

DOID:12134

prefLabel

factor VIII deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_1247

http://purl.obolibrary.org/obo/DOID_0080012

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http://purl.bioontology.org/ontology/OMIM/134500 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007553 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C3494187 MedlinePlus Health Topics LOOM