JSON

[X] microcephaly and chorioretinopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0000181

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:251270 (https://orcid.org/0000-0002-6601-2165)
Subsets

matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_disorder_of_visual_system, mondo_top_grouping_member, matrix_llm__txgnn_other, harrisons_view_inflammatory_disease, rare, mondo_top_grouping_inflammatory_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, mondo_top_grouping_disorder_of_orbital_region

comment

Note that OMIM has two PS that appear to refer to the same thing

exactMatch

https://omim.org/phenotypicSeries/PS251270

id

MONDO:0000181

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml