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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:acropectororenal dysplasia
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Accession:EFO:MONDO:0019840 term browser browse the term
Definition:Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.
Synonyms:related_synonym: acro-pectoro-renal field defect;   brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys
 alt_id: MONDO:0019840
 xref: GARD:511;   ORDO:956;   SCTID:720413004
 see_also: https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect" xsd:anyURI {source="GARD:0000511


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          breast disease 0
            syndromic breast hypoplasia/aplasia 0
              acropectororenal dysplasia 0
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