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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:hypotonia-cystinuria syndrome
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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
 xref: ICD10CM:E72.0;   ORDO:163690
For additional species annotation, visit the Alliance of Genome Resources.


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hypotonia-cystinuria syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camkmt calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,219,385...8,280,127
Ensembl chr 6:8,218,696...8,280,124
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,316,861...8,346,293
Ensembl chr 6:8,318,979...8,346,197
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      chromosomal deletion syndrome 879
        hypotonia-cystinuria syndrome 4
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    hypotonia-cystinuria syndrome 4
paths to the root