JSON

Duker-Weiss-Siber syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0023013

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:419689 (MONDO:equivalentTo)
  • MESH:C535719 (MONDO:equivalentTo)
  • UMLS:C2930993 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, matrix_llm__tag_existing_treatment_other, matrix_included, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_syndromic_disease

A synonym that is historic and discouraged
microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism [ GARD:0001918 ]

exactMatch

http://identifiers.org/mesh/C535719

http://identifiers.org/medgen/419689

http://linkedlifedata.com/resource/umls/id/C2930993

has related synonym

microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism

Duker Weiss Siber syndrome

microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism

id

MONDO:0023013

seeAlso

https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome