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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 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;   NCI:C85033;   ORDO:2970
For additional species annotation, visit the Alliance of Genome Resources.


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 ClinVar Annotator: match by term: Prune belly syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22077972, PMID:31441039 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Prune belly syndrome ClinVar NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Myocd myocardin ISO ClinVar Annotator: match by term: Prune belly syndrome ClinVar PMID:31513549 NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                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.