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Smith-Lemli-Opitz syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010035

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. [ Orphanet:818 ]

Synonyms: SLO syndrome 7-dehydrocholesterol reductase deficiency Smith-Lemli-Opitz syndrome SLOS Smith-Opitz-inborn syndrome RSH syndrome Rutledge lethal multiple congenital anomaly syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:43929004 (MONDO:equivalentTo)
  • DOID:14692 (MONDO:equivalentTo)
  • UMLS:C0175694 (Orphanet:818/e)
  • ICD10CM:E78.72 (MONDO:equivalentTo)
  • NCIT:C85071 (MONDO:equivalentTo)
  • GARD:5683 (Orphanet:818)
  • ICD9:759.89 (MONDO:relatedTo)
  • MESH:D019082 (Orphanet:818/e)
  • Orphanet:818 (OMIM:270400)
  • NORD:1724 (MONDO:NORD)
  • OMIM:270400 (Orphanet:818/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/entry/270400

http://purl.bioontology.org/ontology/ICD10CM/E78.72

http://identifiers.org/mesh/D019082

http://purl.obolibrary.org/obo/DOID_14692

http://purl.obolibrary.org/obo/NCIT_C85071

http://linkedlifedata.com/resource/umls/id/C0175694

http://www.orpha.net/ORDO/Orphanet_818

http://identifiers.org/snomedct/43929004

has related synonym

Smith Lemli Opitz syndrome

polydactyly, sex reversal, renal hypoplasia, and unilobular lung

lethal acrodysgenital syndrome

polydactyly, sex reversal, renal hypoplasia, and unilobar lung

id

MONDO:0010035

seeAlso

https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome

https://search.clinicalgenome.org/kb/conditions/MONDO:0010035