ONTOLOGY REPORT - ANNOTATIONS


Term:Smith-Lemli-Opitz syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Smith-Lemli-Opitz syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhcr7 7-dehydrocholesterol reductase JBrowse link 1 217,018,916 217,034,890 RGD:1600899
RGD:734884
RGD:7240710
RGD:8554872
RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552380

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Smith-Lemli-Opitz syndrome 2
        Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              Dyslipidemias 275
                Smith-Lemli-Opitz syndrome 2
                  Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.