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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
PMID:8259166 PMID:8737829 PMID:8989473 PMID:9024557 PMID:9634533 PMID:9653161 PMID:9683613 PMID:9714007 PMID:10405455 PMID:10602371 PMID:10677299 PMID:10710236 PMID:10807690 PMID:10814720 PMID:10896306 PMID:10995508 PMID:11078571 PMID:11111101 PMID:11161831 PMID:11175299 PMID:11186897 PMID:11241839 PMID:11254748 PMID:11298379 PMID:11427181 PMID:11453964 PMID:11471166 PMID:11562938 PMID:11745994 PMID:11767235 PMID:11857552 PMID:12070263 PMID:12270273 PMID:12794707 PMID:12818773 PMID:12906934 PMID:12914579 PMID:12949967 PMID:14556255 PMID:14659996 PMID:14981719 PMID:15013448 PMID:15286151 PMID:15464432 PMID:15521979 PMID:15670717 PMID:15776424 PMID:15805162 PMID:15877207 PMID:15896653 PMID:15952211 PMID:15954111 PMID:15979035 PMID:16044199 PMID:16181459 PMID:16207203 PMID:16392899 PMID:16446309 PMID:16497572 PMID:16761297 PMID:16814115 PMID:16906538 PMID:16983147 PMID:17237122 PMID:17441222 PMID:17497248 PMID:17965227 PMID:17994283 PMID:18006960 PMID:18076100 PMID:18249054 PMID:18285838 PMID:19365639 PMID:19390132 PMID:20014133 PMID:20052364 PMID:20104611 PMID:20301322 PMID:20556518 PMID:20635399 PMID:20694756 PMID:21696385 PMID:21706511 PMID:21777499 PMID:21990131 PMID:22211794 PMID:22226660 PMID:22382802 PMID:22391996 PMID:22438180 PMID:22929031 PMID:22975760 PMID:23042628 PMID:23293579 PMID:23603282 PMID:23918729 PMID:24033266 PMID:24500076 PMID:24813812 PMID:24824134 PMID:25040602 PMID:25108116 PMID:25307054 PMID:25405082 PMID:25533962 PMID:25741868 PMID:25807282 PMID:26350204 PMID:26467025 PMID:26539891 PMID:26969503 PMID:27097157 PMID:27401223 PMID:27513191 PMID:28166604 PMID:28250423 PMID:28349652 PMID:28492532 PMID:28503313 PMID:28972118 PMID:29300326 PMID:29698737 PMID:33223529, PMID:9683613, PMID:11230174 RGD:1600899, RGD:734884 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
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 PMID:25741868 NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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 1:216,985,710...217,013,743
Ensembl chr 1:216,985,714...217,013,702
JBrowse link
G Pax6 paired box 6 IEP protein:altered expression:embryo, forebrain, hindbrain (rat) RGD PMID:10564872 RGD:8552380 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            lipid metabolism disorder 906
              Dyslipidemias 288
                Smith-Lemli-Opitz syndrome 4
                  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
paths to the root