Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Smith-Lemli-Opitz Syndrome

Synonyms

Smith Lemli Opitz syndrome, type 1

Definitions

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

ID

http://purl.bioontology.org/ontology/MESH/D019082

altLabel

Smith Lemli Opitz syndrome, type 1

RSH Syndrome

7-Dehydrocholesterol Reductase Deficiency

Syndromes, RSH

Deficiency, 7-Dehydrocholesterol Reductase

RSH Syndromes

RSH SLO Syndrome

Smith-Lemli-Opitz Syndrome, Type 1

SLO Syndromes

Lethal Acrodysgenital Syndromes

RSH-SLO Syndromes

Deficiencies, 7-Dehydrocholesterol Reductase

SLO Syndrome

Smith Lemli Opitz Syndrome, Type I

Smith-Lemli-Opitz Syndrome, Type 2

Reductase Deficiencies, 7-Dehydrocholesterol

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Rutledge Lethal Multiple Congenital Anomaly Syndrome

7-Dehydrocholesterol Reductase Deficiencies

Smith Lemli Opitz Syndrome, Type II

Smith-Lemli-Opitz Syndrome, Type I

Lethal Acrodysgenital Syndrome

Rutledge Friedman Harrod Syndrome

Smith Lemli Opitz Syndrome, Type 2

Syndromes, SLO

Acrodysgenital Syndromes, Lethal

Hyperotosis Corticalis Generalisata Familiaris

Reductase Deficiency, 7-Dehydrocholesterol

Syndrome, SLO

Smith Lemli Opitz Syndrome

Acrodysgenital Syndrome, Lethal

Syndrome, RSH

RSH-SLO Syndrome

Smith-Lemli-Opitz Syndrome, Type II

Syndrome, Lethal Acrodysgenital

AQL

BL CF CI CL DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0175694

C2713347

C0282643

C0282644

DC

1

definition

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.

DX

19960101

HN

1996

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Machine permutation

1996

Mapped from

http://purl.bioontology.org/ontology/MESH/C565867

MDA

19950605

MMR

20210630

MN

C18.452.584.500.937

C18.452.584.563.850

C16.320.565.925.875

C18.452.648.398.850

C16.131.077.860

C18.452.648.925.875

C16.320.565.398.850

notation

D019082

prefLabel

Smith-Lemli-Opitz Syndrome

TERMUI

T056987

T056984

T843959

T753604

T751190

T842474

T843958

T812071

T751186

T751193

T751188

T751191

T056988

T056985

T751192

TH

NLM (1996)

OMIM (2013)

NLM (2010)

GHR (2014)

NLM (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D008052

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D050171

http://purl.bioontology.org/ontology/MESH/D043202

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D4-00306 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D019082 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D019082 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D019082 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10078573 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10078573 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/270400 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43929004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10078573 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003894 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E78.72 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D019082 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/43929004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/602858 OMIM CUI
http://purl.bioontology.org/ontology/CSP/5002-0023 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy63 RCD CUI
http://identifiers.org/omim/270400 REXO LOOM
http://identifiers.org/omim/270400 GEXO LOOM
http://identifiers.org/omim/270400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D019082 RH-MESH LOOM
http://purl.jp/bio/4/id/200906079487457878 IOBC LOOM
http://www.gamuts.net/entity#Smith_Lemli_Opitz_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85071 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C85071 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00306 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.500.937 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.860 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3574 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038549 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078573 MEDDRA LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Smith-Lemli-Opitz_Syndrome PEDTERM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18172 OCHV LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6300 RCTV2 LOOM
http://www.orpha.net/ORDO/Orphanet_818 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.850 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/270400 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_14692 DTO LOOM
http://purl.obolibrary.org/obo/DOID_14692 DOID LOOM
http://purl.obolibrary.org/obo/DOID_14692 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14692 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14692 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14692 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.850 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0010035 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010035 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010035 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010035 KTAO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.925.875 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14692 NATPRO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/43929004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_270400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_4366 CLO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith-Lemli-Opitz_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.925.875 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175694 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0019191 OMIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/E78.72 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E78.72 ICD10CM LOOM
http://purl.bioontology.org/ontology/CSP/5002-0023 CRISP LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14934 DERMLEX LOOM
http://cbmi.med.harvard.edu/asdphenotype#Class_130 ASDPTO LOOM