congenital high-molecular-weight kininogen deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0009234
A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. [ NCIT:C98946 ]
Synonyms: high molecular weight kininogen deficiency kininogen deficiency
Term information
- NANDO:2200685 (https://orcid.org/0000-0003-0011-764X)
- MESH:C537060 (MONDO:equivalentTo)
- OMIM:228960 (Orphanet:483/e)
- ICD9:286.9 (MONDO:relatedTo)
- GARD:2684 (MONDO:GARD)
- MEDGEN:75780 (MONDO:equivalentTo)
- DOID:0111676 (MONDO:equivalentTo)
- NCIT:C98946 (MONDO:equivalentTo)
- UMLS:C0272340 (MONDO:equivalentTo)
- Orphanet:483 (OMIM:228960)
- SCTID:27312002 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen
http://identifiers.org/medgen/75780
http://purl.obolibrary.org/obo/NCIT_C98946
http://identifiers.org/snomedct/27312002
http://identifiers.org/mesh/C537060
http://purl.obolibrary.org/obo/DOID_0111676
http://www.orpha.net/ORDO/Orphanet_483
https://omim.org/entry/228960
http://linkedlifedata.com/resource/umls/id/C0272340
high-molecular-weight kininogen deficiency, congenital
HMWK deficiency
Williams trait, included
Williams trait
Flaujeac trait, included
kininogen deficiency, total
Fitzgerald trait kininogen deficiency, total, included
kininogen deficiency, high molecular weight and Low molecular weight
Flaujeac trait
Flaujeac factor deficiency
Fitzgerald trait
HMWK
kininogen deficiency, high molecular weight and LOW molecular weight, included
kininogen deficiency, high molecular weight