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Smith-Lemli-Opitz Syndrome (MONDO:0010035)

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Overview

Category

Ontology ID

Internal:11228

Synonyms

7-dehydrocholesterol reductase deficiency

RSH syndrome

Rutledge lethal multiple congenital anomaly syndrome

SLO syndrome

SLOS

Smith-Lemli-Opitz syndrome

Smith Lemli Opitz syndrome

lethal acrodysgenital syndrome

polydactyly, sex reversal, renal hypoplasia, and unilobar lung

polydactyly, sex reversal, renal hypoplasia, and unilobular lung

Mapped terms

DOID:14692

GARD:0005683

ICD10CM:E78.72

ICD9:759.89

MEDGEN:61231

MESH:D019082

NANDO:1200961

NANDO:2200979

NCIT:C85071

NORD:1724

OMIM:270400

Orphanet:818

SCTID:43929004

UMLS:C0175694

icd11.foundation:1231469858

Child terms

Unknown children.