Disease association ontology term - MONDO:0010002 - Rothmund-Thomson syndrome

Term summary

ID

MONDO:0010002

Name

Rothmund-Thomson syndrome

Ontology or CV name

Disease association

Definition

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

Parents

• excluded_subClassOf eye disorder
• excluded_subClassOf progeroid syndrome
• excluded_subClassOf hereditary poikiloderma
• excluded_subClassOf telomere syndrome
• is_a hereditary neoplastic syndrome
• is_a hereditary photodermatosis
• is_a disorder of development or morphogenesis

Annotation