Noonan syndrome-like disorder with loose anagen hair

Term ID

DOID:0080691

Synonyms

Definition

A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. https://rarediseases.info.nih.gov/diseases/10719/disease

References

GARD:10719
ORDO:2701

Ontology

Human Disease ( DOID:0080691 )

Relationships

is a type of: RASopathy

RASopathy Show first 5 Terms
has subtype: Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 2

Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome-like disorder with loose anagen hair 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models