JSON

DiGeorge syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008564

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. [ NCIT:P378 ]

Synonyms: DGS DiGeorge syndrome 22q11.2 Deletion syndrome DiGeorge anomaly DiGeorge syndrome type 1 pharyngeal pouch syndrome Di-George syndrome 22q deletion syndrome(s) DiGeorge's syndrome DGS1

This is just here as a test because I lose it

Term information

database cross reference
  • ICD9:279.11 (MONDO:i2s)
  • UMLS:C0012236 (MONDO:equivalentTo)
  • MESH:D004062 (MONDO:equivalentTo)
  • NANDO:1200339 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:77128003 (MONDO:equivalentTo)
  • NANDO:1200688 (https://orcid.org/0000-0003-0011-764X)
  • NCIT:C2989 (MONDO:equivalentTo)
  • MEDGEN:4297 (MONDO:equivalentTo)
  • OMIM:188400 (MONDO:equivalentTo)
  • NANDO:2200712 (https://orcid.org/0000-0003-0011-764X)
  • GTR:AN1145678
  • DOID:11198 (MONDO:equivalentTo)
  • GARD:15118 (MONDO:GARD)
Subsets

matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_immune_system_disorder, matrix_included, nord_rare, matrix_txgnn_grouping_member, rare, mondo_top_grouping_immune_system_disorder, mondo_top_grouping_cardiovascular_disorder, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, harrisons_view_chromosomal_disorder, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, mondo_top_grouping_chromosomal_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

abbreviation
DGS1 [ NCIT:C2989 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C0012236

https://omim.org/entry/188400

http://purl.obolibrary.org/obo/NCIT_C2989

http://purl.obolibrary.org/obo/DOID_11198

http://identifiers.org/medgen/4297

http://identifiers.org/snomedct/77128003

http://identifiers.org/mesh/D004062

has narrow synonym

Shprintzen syndrome

Sphrintzen

has related synonym

DiGeorge syndrome chromosome region

Catch22

velocardiofacial syndrome

hypoplasia of thymus and parathyroids

VCF

chromosome 22Q11.2 deletion syndrome

velo-cardio-facial syndrome

Takao VCF syndrome

third and fourth pharyngeal pouch syndrome

id

MONDO:0008564