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

This is just here as a test because I lose it

Term information

database cross reference
  • 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)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

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

has related synonym

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

id

MONDO:0009234

seeAlso

https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency