Disease association ontology term - MONDO:0011899 - Noonan syndrome-like disorder with loose anagen hair

Term summary

ID

MONDO:0011899

Name

Noonan syndrome-like disorder with loose anagen hair

Ontology or CV name

Disease association

Definition

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.

Parents

• is_a loose anagen syndrome
• is_a multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• is_a Noonan syndrome and Noonan-related syndrome

Annotation