JSON

rhizomelic chondrodysplasia punctata type 4

Go to external page http://purl.obolibrary.org/obo/MONDO_0014510

Synonyms: severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder fatty acyl-CoA reductase 1 deficiency FAR1 deficiency fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency fatty acyl-CoA reductase 1 disorder severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency rhizomelic chondrodysplasia punctata type 4 severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:616154 (Orphanet:438178/e)
  • DOID:0081243 (MONDO:equivalentTo)
  • GARD:13319 (Orphanet:438178)
  • Orphanet:438178 (MONDO:equivalentTo)
  • UMLS:C4015344 (MONDO:ncbi_mim2gene_medline)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://linkedlifedata.com/resource/umls/id/C4015344

https://omim.org/entry/616154

http://www.orpha.net/ORDO/Orphanet_438178

http://purl.obolibrary.org/obo/DOID_0081243

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

PFCRD

peroxisomal fatty acyl-CoA reductase 1 disorder

id

MONDO:0014510

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014510