Disease association ontology term - MONDO:0014632 - hypomyelinating leukodystrophy 10

Term summary

ID

MONDO:0014632

Name

hypomyelinating leukodystrophy 10

Ontology or CV name

Disease association

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a leukodystrophy

Annotation