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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:oculocerebrorenal syndrome
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Accession:DOID:1056 term browser browse the term
Definition:A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)
Synonyms:exact_synonym: Lowe Bickel Syndrome;   Lowe Disease;   Lowe Oculocerebrorenal Syndrome;   Lowe Syndrome;   Lowe Terrey MacLachlan Syndrome;   OCRL;   OCRL1;   Oculocerebrorenal Dystrophy;   Oculocerebrorenal Syndrome of Lowe;   cerebro oculo renal syndrome;   cerebrooculorenal syndrome;   phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency;   renal oculocerebrodystrophy
 primary_id: MESH:D009800
 alt_id: OMIM:309000
 xref: GARD:3295;   ICD10CM:E72.03;   NCI:C84940;   ORDO:534
For additional species annotation, visit the Alliance of Genome Resources.

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oculocerebrorenal syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457 		JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by OMIM:309000
ClinVar Annotator: match by term: Lowe syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculocerebrorenal Syndrome		 OMIM
ClinVar
CTD		 PMID:8504307 PMID:9430698 PMID:9632163 PMID:9682219 PMID:10364518 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:123,977,960...123,979,917
Ensembl chr  X:123,977,985...123,979,942 		JBrowse link
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:126,980,201...127,066,385
Ensembl chr  X:126,994,947...127,066,347 		JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by OMIM:248190		 OMIM
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:25741868 PMID:27530400 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227 		JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      oculocerebrorenal syndrome 8
        renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            X-linked monogenic disease 1021
              X-linked recessive disease 381
                oculocerebrorenal syndrome 8
                  renal hypomagnesemia 5 with ocular involvement 3
paths to the root