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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 term: RSH syndrome
ClinVar Annotator: match by OMIM:270400
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8259166, PMID:8737829, 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: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:30311386, 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 Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome ClinVar PMID:23042628, PMID:25040602, PMID:25741868, 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 16103
    syndrome 6989
      Smith-Lemli-Opitz syndrome 3
        Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            lipid metabolism disorder 900
              Dyslipidemias 292
                Smith-Lemli-Opitz syndrome 3
                  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
paths to the root

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