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

ONTOLOGY REPORT - ANNOTATIONS


Term:hypotonia-cystinuria syndrome
go back to main search page
Accession:DOID:0060858 term browser browse the term
Definition:A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO)
Synonyms:exact_synonym: Cystinuria with Mitochondrial Disease
 narrow_synonym: HOMOZYGOUS 2p16 DELETION SYNDROME;   HOMOZYGOUS 2p21 DELETION SYNDROME
 primary_id: MESH:C564710
 alt_id: OMIM:606407;   RDO:0013579
 xref: ORDO:163690
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    hypotonia-cystinuria syndrome 4
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.