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FOXG1 disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0100040

A monogenic disease that has material basis in mutation in the FOXG1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: inherited genetic disease caused by mutation in FOXG1 FOXG1 disorder FOXG1 inherited genetic disease FOXG1 syndrome due to intragenic alteration Rett syndrome, congenital variant FOXG1 syndrome FOXG1-related epileptic-dyskinetic encephalopathy

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1842594 (MONDO:equivalentTo)
  • OMIM:613454 (MONDO:equivalentTo)
  • NCIT:C176903 (MONDO:equivalentTo)
  • ICD10CM:F84.8 (Orphanet:561854)
  • UMLS:C5681589 (MONDO:equivalentTo)
  • GARD:22402 (MONDO:GARD)
  • Orphanet:561854 (MONDO:equivalentTo)
  • GARD:12825 (MONDO:GARD)
  • UMLS:C3150705 (MONDO:equivalentTo)
  • GARD:15664 (MONDO:GARD)
  • MEDGEN:462055 (MONDO:equivalentTo)
  • Orphanet:598164 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_included, clingen, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, ordo_subtype_of_a_disorder, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease

ClinGen label
FOXG1 disorder

broadMatch

http://purl.bioontology.org/ontology/ICD10CM/F84.8

comment

Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. (https://orcid.org/0000-0002-6733-369X)

contributor

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

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

creator

https://orcid.org/0000-0001-5208-3432

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0100040

date

2018-06-29T19:29:48Z

exactMatch

http://www.orpha.net/ORDO/Orphanet_561854

http://identifiers.org/medgen/1842594

http://linkedlifedata.com/resource/umls/id/C5681589

http://www.orpha.net/ORDO/Orphanet_598164

http://identifiers.org/medgen/462055

http://linkedlifedata.com/resource/umls/id/C3150705

https://omim.org/entry/613454

http://purl.obolibrary.org/obo/NCIT_C176903

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015653

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

id

MONDO:0100040

term tracker item

https://github.com/monarch-initiative/mondo/issues/4069

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

https://github.com/monarch-initiative/mondo/issues/7850