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Metadata
DOID DOID:14692
Name Smith-Lemli-Opitz syndrome
Xrefs

CSP2005:5002-0023

GARD:5683

ICD10CM:E78.72

MESH:D019082

NCI:C85071

OMIM:270400

SNOMEDCT_US_2018_03_01:43929004

UMLS_CUI:C0175694

Alternateids

DOID:4366

Subsets

NCIthesaurus

Synonyms

Rutledge lethal multiple congenital anomaly syndrome [EXACT]

Smith-Opitz-Inborn syndrome [EXACT]

Relationships

is_a lipid metabolism disorder

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