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: 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;   congenital absence of the abdominal muscles;   prune belly syndromes
 primary_id: MESH:D011535
 alt_id: OMIM:100100;   RDO:0002076
 xref: GARD:7479;   ORDO:2970
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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 4 504,663 999,550 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11347
    syndrome 4233
      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 11347
    Developmental Diseases 7313
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6657
        Congenital Abnormalities 3103
          Multiple Abnormalities 1248
            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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