Disease association ontology term - MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

Term summary

ID

MONDO:0009910

Name

Wiedemann-Rautenstrauch syndrome

Ontology or CV name

Disease association

Definition

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a syndromic disease
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a developmental anomaly of metabolic origin
• is_a progeroid syndrome
• is_a hereditary lipodystrophy
• is_a POLR3A-related disorder
• is_a osteogenesis imperfecta and a reduction of bone mineral density.

Annotation