ONTOLOGY REPORT - ANNOTATIONS


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: Cerebro Oculo Renal Syndrome;   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;   Renal Oculocerebrodystrophy
 primary_id: MESH:D009800
 alt_id: OMIM:309000;   RDO:0001606
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oculocerebrorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt1 actin-related protein T1 JBrowse link X 133,227,699 133,229,052 RGD:8554872
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 JBrowse link X 131,340,045 131,344,038 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
RGD:11554173
G Prr32 proline rich 32 JBrowse link X 131,617,765 131,619,762 RGD:8554872
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 JBrowse link X 134,634,651 134,719,503 RGD:8554872
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      oculocerebrorenal syndrome 7
        renal hypomagnesemia 5 with ocular involvement 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            X-linked monogenic disease 490
              X-linked recessive disease 166
                oculocerebrorenal syndrome 7
                  renal hypomagnesemia 5 with ocular involvement 2
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