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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 Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: RSH syndrome ClinVar PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958 PMID:9736777 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO
ISS
DNA:insertion
CTD Direct Evidence: marker/mechanism
OMIM:270400
ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:2222666 PMID:2945519 PMID:8259166 PMID:8737829 PMID:8989473 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:24813812 PMID:25040602 PMID:25741868 PMID:25741914 More... NCBI chr 1:198,981,559...199,009,853
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 21128
    syndrome 10833
      Smith-Lemli-Opitz syndrome 5
        Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lipid metabolism disorder 1735
              Dyslipidemias 395
                Smith-Lemli-Opitz syndrome 5
                  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
paths to the root