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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Partial autosomal monosomy
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Accession:EFO:Orphanet:98142 term browser browse the term
Synonyms:exact_synonym: Partial autosomal deletion
 xref: ICD10:Q93.3;   ICD10:Q93.4;   ICD10:Q93.5

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Chromosomal anomaly 0
              Autosomal monosomy 0
                Partial autosomal monosomy 0
                  10p11.21p12.31 microdeletion syndrome 0
                  14q22q23 microdeletion syndrome 0
                  15q11.2 microdeletion syndrome 0
                  15q13.3 microdeletion syndrome 0
                  15q24 microdeletion syndrome 0
                  17q11 microdeletion syndrome 0
                  17q12 microdeletion syndrome 0
                  17q21.31 microdeletion syndrome 0
                  19p13.13 microdeletion syndrome 0
                  19q13.11 microdeletion syndrome 0
                  1p36 deletion syndrome 0
                  21q22.13q22.2 microdeletion syndrome 0
                  3q29 microdeletion syndrome 0
                  4q21 microdeletion syndrome 0
                  8q21.11 microdeletion syndrome 0
                  Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 0
                  Hypoparathyroidism - deafness - renal disease 0
                  Hypotonia - cystinuria type 1 + 0
                  Langer-Giedion syndrome 0
                  Monosomy 5p 0
                  Non-distal monosomy 7p 0
                  Partial deletion of the long arm of chromosome 1 + 0
                  Partial deletion of the long arm of chromosome 18 0
                  Partial deletion of the long arm of chromosome 22 + 0
                  Partial deletion of the short arm of chromosome 12 0
                  Partial deletion of the short arm of chromosome 18 + 0
                  Partial deletion of the short arm of chromosome 4 0
                  Partial deletion of the short arm of chromosome 9 + 0
                  Partial monosomy of the short arm of chromosome 17 + 0
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