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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 syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as 'Greek helmet face' - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
Synonyms:exact_synonym: 4p deletion syndrome;   4p- Syndrome;   CHROMOSOME 4p16.3 DELETION SYNDROME;   Chromosome 4p Deletion Syndrome;   Chromosome 4p Monosomy;   Chromosome 4p Syndrome;   Chromosome 4p Syndromes;   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
 primary_id: MESH:D054877
 alt_id: OMIM:194190;   RDO:0002409
 xref: GARD:7896;   ICD10CM:Q93.3;   NCI:C35528;   ORDO:280
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr14:1,184,638...1,216,392 JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
CTD
ClinVar
PMID:25741868 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
CTD
ClinVar
PMID:14706454 PMID:25741868 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 chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome
ClinVar Annotator: match by OMIM:194190
CTD
ClinVar
OMIM
PMID:11252005 PMID:24874954 PMID:25741868 PMID:29760529 PMID:29892088 More... NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      chromosomal deletion syndrome 1003
        Wolf-Hirschhorn syndrome 6
Path 2
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Chromosome Aberrations 1865
          Aneuploidy 1146
            Monosomy 1045
              Chromosome Deletion 1045
                chromosomal deletion syndrome 1003
                  Wolf-Hirschhorn syndrome 6
paths to the root