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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 sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
Synonyms:exact_synonym: Cerebrooculorenal Syndrome;   Lowe Bickel Syndrome;   Lowe Disease;   Lowe Oculocerebrorenal Syndrome;   Lowe Syndrome;   Lowe Terrey MacLachlan Syndrome;   OCRL;   OCRL1;   Oculocerebrorenal Dystrophy;   Oculocerebrorenal Syndrome of Lowe;   Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency;   cerebro oculo renal syndrome;   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:133,227,699...133,229,052
Ensembl chr  X:133,227,660...133,229,047
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:131,340,045...131,344,038
Ensembl chr  X:131,340,045...131,343,853
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, PMID:10767176, PMID:10923037, PMID:11149618, PMID:15108291, PMID:15627218, PMID:16722554, PMID:17142121, PMID:17162149, PMID:17384968, PMID:17765681, PMID:19559295, PMID:19795375, PMID:20301653, PMID:21031565, PMID:21233288, PMID:21666675, PMID:22381590, PMID:23047739, PMID:24081861, PMID:24711037, PMID:25326635, PMID:25480730, PMID:25741868, PMID:26694549, PMID:27625797, PMID:28492532, PMID:28973083 NCBI chr  X:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618
JBrowse link
G Prr32 proline rich 32 ISO ClinVar Annotator: match by term: Lowe syndrome ClinVar PMID:17142121 NCBI chr  X:131,617,765...131,619,762
Ensembl chr  X:131,617,798...131,619,728
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:134,634,651...134,719,503
Ensembl chr  X:134,647,703...134,719,097
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 chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971, PMID:18188451, PMID:22422540, PMID:27530400, PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      oculocerebrorenal syndrome 8
        renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked recessive disease 276
                oculocerebrorenal syndrome 8
                  renal hypomagnesemia 5 with ocular involvement 3
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.