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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:X-linked lissencephaly 2
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Accession:DOID:0112238 term browser browse the term
Definition:A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)
Synonyms:exact_synonym: LISX2;   X-linked lissencephaly with abnormal genitalia;   X-linked lissencephaly with ambiguous genitalia;   X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome;   XLAG;   XLAG (X-linked lissencephaly with abnormal genitalia) syndrome;   XLIS2;   XLISG;   hydranencephaly and abnormal genitalia;   hydranencephaly with abnormal genitalia
 primary_id: MESH:C564563
 alt_id: DOID:9006520;   OMIM:300215
 xref: ORDO:452


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X-linked lissencephaly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Urogenital Abnormalities 445
          X-linked lissencephaly 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                complex cortical dysplasia with other brain malformations 1595
                  Malformations of Cortical Development, Group II 185
                    lissencephaly 116
                      Classical Lissencephalies and Subcortical Band Heterotopias 6
                        X-linked lissencephaly 2 1
paths to the root