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ONTOLOGY REPORT - ANNOTATIONS


Term:prune belly syndrome
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Accession:DOID:0060889 term browser browse the term
Definition:A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin.
Synonyms:exact_synonym: Congenital Absence of the Abdominal Muscles;   EGBRS;   Eagle Barrett Syndrome;   Eagle-Barret syndrome;   Obrinsky syndrome;   Obrisnksy syndrome;   PBS;   abdominal muscle deficiency syndrome;   absence of abdominal muscles with urinary tract abnormality and cryptorchidism;   prune belly syndromes
 primary_id: MESH:D011535
 alt_id: OMIM:100100;   RDO:0002076
 xref: GARD:7479;   ORDO:2970
For additional species annotation, visit the Alliance of Genome Resources.


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prune belly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      prune belly syndrome 1
        Diastasis Recti and Weakness of the Linea Alba 0
        Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
        Urethral Obstruction Sequence 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            prune belly syndrome 1
              Diastasis Recti and Weakness of the Linea Alba 0
              Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
              Urethral Obstruction Sequence 0
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