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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;   ZEB2-RELATED CONDITION;   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


show annotations for term's descendants           Sort by:
Mowat-Wilson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr17:52,316,388...52,350,732
Ensembl chr17:52,317,913...52,332,079 		JBrowse link
G ARHGAP15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,192,599...8,811,794
Ensembl chr15:8,192,607...8,811,795 		JBrowse link
G GTDC1 glycosyltransferase like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr15:7,685,969...8,162,784
Ensembl chr15:7,757,935...8,051,594 		JBrowse link
G HNMT histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199 		JBrowse link
G KYNU kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:8,847,335...8,982,951
Ensembl chr15:8,850,544...8,982,891 		JBrowse link
G LRP1B LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530 		JBrowse link
G NXPH2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:12,953,062...13,073,208
Ensembl chr15:12,953,195...13,073,202 		JBrowse link
G SPOPL speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:13,134,221...13,207,737
Ensembl chr15:13,134,225...13,207,731 		JBrowse link
G THSD7B thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr15:14,088,995...15,610,635
Ensembl chr15:14,088,999...15,046,042 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition OMIM
ClinVar		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    syndrome 9945
      Mowat-Wilson syndrome 10
Path 2
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13237
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12324
        genetic disease 11991
          monogenic disease 10030
            autosomal genetic disease 9259
              autosomal dominant disease 6128
                complex cortical dysplasia with other brain malformations 1572
                  Malformations of Cortical Development, Group I 1355
                    microcephaly 1116
                      Mowat-Wilson syndrome 10
paths to the root