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oculocerebrorenal syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010645

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. [ Orphanet:534 ]

Synonyms: Lowe disease Lowe oculo-cerebro-renal syndrome oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe oculo-cerebro-renal dystrophy Lowe syndrome oculo-cerebro-renal syndrome OCRL Lowe oculocerebrorenal syndrome oculocerebrorenal dystrophy Lowe syndrome, X-linked recessive phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency OCR

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C84940 (MONDO:equivalentTo)
  • ICD9:270.8 (MONDO:relatedTo)
  • UMLS:C0028860 (Orphanet:534/e)
  • OMIM:309000 (Orphanet:534/e)
  • MESH:D009800 (Orphanet:534/e)
  • Orphanet:534 (OMIM:309000)
  • SCTID:79385002 (MONDO:equivalentTo)
  • MedDRA:10051707 (Orphanet:534/e)
  • DOID:1056 (MONDO:equivalentTo)
  • NORD:1379 (MONDO:NORD)
  • GARD:3295 (Orphanet:534)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10051707

exactMatch

http://purl.obolibrary.org/obo/DOID_1056

http://www.orpha.net/ORDO/Orphanet_534

http://purl.obolibrary.org/obo/NCIT_C84940

http://identifiers.org/mesh/D009800

http://linkedlifedata.com/resource/umls/id/C0028860

https://omim.org/entry/309000

http://identifiers.org/snomedct/79385002

has related synonym

phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency

Ocrl1

id

MONDO:0010645

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010645