Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:ventriculomegaly - cystic kidney disease
go back to main search page
Accession:DOID:0111625 term browser browse the term
Definition:A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: VMCKD;   congenital nephrosis-cerebral ventriculomegaly syndrome;   cystic kidney disease with ventriculomegaly
 primary_id: MESH:C565657
 alt_id: OMIM:219730
 xref: ORDO:443988
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crb2 crumbs cell polarity complex component 2 JBrowse link 3 22,037,812 22,061,247 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    syndrome 5790
      ventriculomegaly - cystic kidney disease 1
Path 2
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          monogenic disease 4989
            autosomal genetic disease 3969
              autosomal recessive disease 2189
                ventriculomegaly - cystic kidney disease 1
paths to the root

NHLBI Logo

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