Preferred Name |
Smith-Lemli-Opitz Syndrome |
|
Synonyms |
Smith Lemli Opitz syndrome, type 1 |
|
Definitions |
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. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D019082 |
|
altLabel |
Smith Lemli Opitz syndrome, type 1 RSH Syndrome 7-Dehydrocholesterol Reductase Deficiency Syndromes, RSH Deficiency, 7-Dehydrocholesterol Reductase RSH Syndromes RSH SLO Syndrome Smith-Lemli-Opitz Syndrome, Type 1 SLO Syndromes Lethal Acrodysgenital Syndromes RSH-SLO Syndromes Deficiencies, 7-Dehydrocholesterol Reductase SLO Syndrome Smith Lemli Opitz Syndrome, Type I Smith-Lemli-Opitz Syndrome, Type 2 Reductase Deficiencies, 7-Dehydrocholesterol Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Rutledge Lethal Multiple Congenital Anomaly Syndrome 7-Dehydrocholesterol Reductase Deficiencies Smith Lemli Opitz Syndrome, Type II Smith-Lemli-Opitz Syndrome, Type I Lethal Acrodysgenital Syndrome Rutledge Friedman Harrod Syndrome Smith Lemli Opitz Syndrome, Type 2 Syndromes, SLO Acrodysgenital Syndromes, Lethal Hyperotosis Corticalis Generalisata Familiaris Reductase Deficiency, 7-Dehydrocholesterol Syndrome, SLO Smith Lemli Opitz Syndrome Acrodysgenital Syndrome, Lethal Syndrome, RSH RSH-SLO Syndrome Smith-Lemli-Opitz Syndrome, Type II Syndrome, Lethal Acrodysgenital |
|
AQL |
BL CF CI CL DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0175694 C2713347 C0282643 C0282644 |
|
DC |
1 |
|
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. |
|
DX |
19960101 |
|
HN |
1996 |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
1996 |
|
Mapped from | ||
MDA |
19950605 |
|
MMR |
20210630 |
|
MN |
C18.452.584.500.937 C18.452.584.563.850 C16.320.565.925.875 C18.452.648.398.850 C16.131.077.860 C18.452.648.925.875 C16.320.565.398.850 |
|
notation |
D019082 |
|
prefLabel |
Smith-Lemli-Opitz Syndrome |
|
TERMUI |
T056987 T056984 T843959 T753604 T751190 T842474 T843958 T812071 T751186 T751193 T751188 T751191 T056988 T056985 T751192 |
|
TH |
NLM (1996) OMIM (2013) NLM (2010) GHR (2014) NLM (2014) ORD (2010) |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D008052 http://purl.bioontology.org/ontology/MESH/D000015 |