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
Accession: DOID:1056
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; cerebro oculo renal syndrome; cerebrooculorenal syndrome; oculocerebrorenal syndrome of Lowe; 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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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
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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
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Ocrl
OCRL, inositol polyphosphate-5-phosphatase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lowe syndrome | ClinVar Annotator: match by term: Oculocerebrorenal Syndrome
OMIM CTD ClinVar
PMID:8504307 PMID:9199559 PMID:9430698 PMID:9536098 PMID:9632163 PMID:9682219 PMID:10767176 PMID:10923037 PMID:11149618 PMID:15627218 PMID:16199547 PMID:16381338 PMID:17142121 PMID:17162149 PMID:17384968 PMID:17576681 PMID:18500547 PMID:19390221 PMID:19902262 PMID:20301653 PMID:21031565 PMID:22381590 PMID:23047739 PMID:24081861 PMID:24711037 PMID:25305077 PMID:25326635 PMID:25480730 PMID:25741868 PMID:26694549 PMID:27059748 PMID:27625797 PMID:28492532 PMID:28669993 PMID:28803024 PMID:29300302 PMID:30773290 PMID:32712215 More...
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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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
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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
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
ClinVar
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
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Cldn19
claudin 19
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
OMIM ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638 More...
NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar
PMID:28492532
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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