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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:Wolf-Hirschhorn syndrome
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Accession:DOID:0050460 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO)
Synonyms:exact_synonym: 4p deletion syndrome;   4p- Syndrome;   CHROMOSOME 4p16.3 DELETION SYNDROME;   Chromosome 4p Deletion Syndrome;   Chromosome 4p Monosomy;   Chromosome 4p Syndrome;   Del(4p) Syndrome;   Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation;   PRDS;   Partial Monosomy 4p;   Pitt Rogers Danks Syndrome;   Pitt Syndrome;   Pitt Syndromes;   WHS;   Wolf Hirchhorn syndrome;   Wolf syndrome;   chromosome 4p syndromes
 primary_id: MESH:D054877
 alt_id: MIM:194190
 xref: GARD:7896;   ICD10CM:Q93.3;   NCI:C35528;   ORDO:280


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Wolf-Hirschhorn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,184,677...1,216,392 JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
OMIM:194190		 CTD
ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome		 CTD
ClinVar		 PMID:14706454 PMID:25741868 PMID:28492532 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mental retardation, unusual facies, and intrauterine growth retardation | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
OMIM:194190		 CTD
ClinVar
MouseDO		 PMID:11252005 PMID:24874954 PMID:25741868 PMID:28492532 PMID:29760529 More... NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome ClinVar NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      chromosomal deletion syndrome 1528
        Wolf-Hirschhorn syndrome 7
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Pathologic Processes 8259
        Chromosome Aberrations 2748
          Aneuploidy 1864
            Monosomy 1590
              Chromosome Deletion 1590
                chromosomal deletion syndrome 1528
                  Wolf-Hirschhorn syndrome 7
paths to the root