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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: 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
 xref: GARD:7479;   ICD10CM:Q79.4;   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 17 63,990,599 64,463,222 RGD:7240710
RGD:11554173
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Myocd myocardin JBrowse link 10 51,682,053 51,781,458 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      prune belly syndrome 3
        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 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                prune belly syndrome 3
                  Diastasis Recti and Weakness of the Linea Alba 0
                  Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
                  Urethral Obstruction Sequence 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.