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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:prune belly syndrome
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Accession:DOID:0060889 term browser browse the term
Definition:A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO)
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;   NCI:C85033;   ORDO:2970


show annotations for term's descendants           Sort by:
prune belly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Prune belly syndrome		 OMIM
CTD
ClinVar		 PMID:22077972 PMID:25741868 PMID:28492532 PMID:31441039 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Prune belly syndrome ClinVar NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Myocd myocardin ISO ClinVar Annotator: match by term: Prune belly syndrome ClinVar PMID:31513549 NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      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 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                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