Disease association ontology term - MONDO:0010035 - Smith-Lemli-Opitz syndrome

Term summary

ID

MONDO:0010035

Name

Smith-Lemli-Opitz syndrome

Ontology or CV name

Disease association

Definition

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

Parents

• is_a eye disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a syndromic dyslipidemia
• is_a cholesterol biosynthetic process disease

Annotation