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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:Mowat-Wilson syndrome
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Accession:DOID:0060485 term browser browse the term
Definition:A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)
Synonyms:exact_synonym: Hirschsprung disease mental retardation syndrome;   MOWS;   microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease;   microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease
 narrow_synonym: Hirschsprung disease-mental retardation syndrome, late infantile
 primary_id: MESH:C536990
 alt_id: OMIM:235730
 xref: GARD:9673;   NCI:C74999;   ORDO:2152
For additional species annotation, visit the Alliance of Genome Resources.


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Mowat-Wilson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265
JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,666...29,064,305
Ensembl chr 3:28,766,645...29,162,271
JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037 JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008
JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794
JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:235730
OMIM
ClinVar
CTD
PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Mowat-Wilson syndrome 10
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Mowat-Wilson syndrome 10
paths to the root