X-linked syndromic intellectual disability

Go to external page http://purl.obolibrary.org/obo/MONDO_0020119


A syndromic intellectual disability with an X-linked mode of inheritance. [ https://orcid.org/0000-0002-6601-2165 ]

Synonyms: syndromic X-linked mental retardation syndromic X-linked intellectual disability intellectual disability, X-linked syndromic X-linked syndromic intellectual disability syndromic intellectual disability, X-linked mental retardation, X-linked syndromic

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:98464 (MONDO:equivalentObsolete)
  • DOID:0060309 (MONDO:equivalentTo)
  • OMIMPS:309510 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_psychiatric_disorder, matrix_included, matrix_llm__tag_existing_treatment_other, clingen, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_member, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_hereditary_disease, harrisons_view_nervous_system_disorder, mondo_top_grouping_syndromic_disease

ClinGen label
X-linked syndromic intellectual disability

A synonym that is historic and discouraged
syndromic X-linked mental retardation [ DOID:0060309 ]

A synonym that is historic and discouraged
mental retardation, X-linked syndromic

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0020119

exactMatch

https://omim.org/phenotypicSeries/PS309510

http://purl.obolibrary.org/obo/DOID_0060309

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0020119

should conform to

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588