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inherited prekallikrein deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0012901

An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. [ MONDO:patterns/hereditary ]

Synonyms: fletcher factor (prekallikrein) deficiency hereditary prekallikrein deficiency congenital prekallikrein deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:4477 (MONDO:GARD)
  • Orphanet:749 (OMIM:612423)
  • ICD9:286.9 (MONDO:relatedTo)
  • MESH:C562725 (MONDO:equivalentTo)
  • OMIM:612423 (Orphanet:749/e)
  • NANDO:2200684 (https://orcid.org/0000-0003-0011-764X)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, mondo_top_grouping_hematologic_disorder, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_hematologic_disorder, rare, harrisons_view_member, harrisons_view_hereditary_disease, orphanet_rare

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0012901

exactMatch

http://identifiers.org/mesh/C562725

http://www.orpha.net/ORDO/Orphanet_749

https://omim.org/entry/612423

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has related synonym

prekallikrein deficiency, congenital

prekallikrein deficiency

Fletcher Factor deficiency

PKK deficiency

id

MONDO:0012901

seeAlso

https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital

term tracker item

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