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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 3:28,626,987...29,236,225
Ensembl chr 3:28,627,084...29,236,219
JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,410,426...29,705,981
Ensembl chr 3:29,410,426...29,705,985
JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:67,027...309,536
Ensembl chr 3:307,204...307,980
JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:397,834...471,651
Ensembl chr 3:401,429...471,634
JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:46,026,943...46,931,619
Ensembl chr13:46,169,963...46,930,858
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:9719364, PMID:11279515, PMID:11448942, PMID:11592033, PMID:11595972, PMID:11891681, PMID:12784289, PMID:12920073, PMID:15006694, PMID:15121779, PMID:15908750, PMID:16053902, PMID:16088920, PMID:16532472, PMID:16688751, PMID:17103451, PMID:17203459, PMID:17478475, PMID:17932455, PMID:17958891, PMID:18182442, PMID:18414213, PMID:19006215, PMID:19215041, PMID:19764019, PMID:19842203, PMID:20428734, PMID:21343952, PMID:23243526, PMID:23466526, PMID:23523603, PMID:24401652, PMID:24715670, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25931334, PMID:26467025, PMID:26633542, PMID:26721324, PMID:26809768, PMID:26993267, PMID:27831545, PMID:28492532, PMID:28501473, PMID:28708303, PMID:29089047, PMID:30311386, PMID:32860008 NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,994,753...29,997,626 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Mowat-Wilson syndrome 9
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Mowat-Wilson syndrome 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.