OBO ID: DOID:0080691
Term Name: Noonan syndrome-like disorder with loose anagen hair Search Ontology:
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 )
OTHER Noonan syndrome-like disorder with loose anagen hair PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)