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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:Smith-Lemli-Opitz syndrome
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Accession:DOID:14692 term browser browse the term
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.
Synonyms:exact_synonym: 7-Dehydrocholesterol Reductase Deficiencies;   7-Dehydrocholesterol Reductase Deficiency;   Hyperotosis Corticalis Generalisata Familiaris;   Lethal Acrodysgenital Syndrome;   Lethal Acrodysgenital Syndromes;   Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung;   RSH SLO Syndrome;   RSH Syndrome;   RSH Syndromes;   RSH-SLO Syndromes;   Rutledge Friedman Harrod Syndrome;   Rutledge Lethal Multiple Congenital Anomaly Syndrome;   SLO Syndrome;   SLO Syndromes;   SLOS;   Smith Lemli Opitz Syndrome, Type 2;   Smith Lemli Opitz Syndrome, Type I;   Smith Lemli Opitz Syndrome, Type II;   Smith Lemli Opitz syndrome, type 1;   Smith-Opitz-Inborn syndrome
 primary_id: MESH:D019082;   RDO:0007255
 alt_id: OMIM:270400
 xref: GARD:5683;   ICD10CM:E78.72;   NCI:C85071
For additional species annotation, visit the Alliance of Genome Resources.



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Smith-Lemli-Opitz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr7 7-dehydrocholesterol reductase ISO DNA:insertion
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
ClinVar Annotator: match by OMIM:270400
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:8259166 PMID:8737829 PMID:8989473 PMID:9024557 PMID:9536098 More... RGD:1600899, RGD:734884 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:10208499 PMID:12730724 PMID:15701167 PMID:17445538 PMID:17694954 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:23042628 PMID:25040602 PMID:25741868 PMID:28250423 PMID:28492532 NCBI chr 1:198,981,559...199,009,806
Ensembl chr 1:198,981,604...199,009,869
JBrowse link
G Pax6 paired box 6 IEP protein:altered expression:embryo, forebrain, hindbrain (rat) RGD PMID:10564872 RGD:8552380 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Smith-Lemli-Opitz syndrome 4
        Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            lipid metabolism disorder 1017
              Dyslipidemias 332
                Smith-Lemli-Opitz syndrome 4
                  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
paths to the root