Disease association ontology term - MONDO:0009514 - Laurence-Moon syndrome

Term summary

ID

MONDO:0009514

Name

Laurence-Moon syndrome

Ontology or CV name

Disease association

Definition

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a syndromic disease
• is_a autosomal recessive disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a congenital hypogonadotropic hypogonadism

Annotation