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Metadata
ID DOID:14692
PURL http://purl.obolibrary.org/obo/DOID_14692 Copy
Name Smith-Lemli-Opitz syndrome
Xrefs

GARD:5683

ICD10CM:E78.72

MESH:D019082

MIM:270400

NCI:C85071

SNOMEDCT_US_2025_09_01:43929004

UMLS_CUI:C0175694

Alternateids

DOID:4366

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Rutledge lethal multiple congenital anomaly syndrome [EXACT]

Smith-Opitz-Inborn syndrome [EXACT]

Parent Relationships

is_a lipid metabolism disorder

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