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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 9p deletion syndrome
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Accession:DOID:0060732 term browser browse the term
Definition:A chromosome deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)
Synonyms:exact_synonym: 9p syndrome;   Alfi syndrome;   Monosomy 9p;   chromosome 9, monosomy 9p;   monosomy 9p syndrome
 primary_id: MESH:C538024
 alt_id: OMIM:158170;   RDO:0003958
 xref: ORDO:261112
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chromosome 9p deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal deletion syndrome 607
        chromosome 9p deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    Pathological Conditions, Signs and Symptoms 8245
      Pathologic Processes 5301
        Chromosome Aberrations 845
          Aneuploidy 749
            Monosomy 654
              Chromosome Deletion 654
                chromosomal deletion syndrome 607
                  chromosome 9p deletion syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.