Metadata | |
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ID | DOID:0080691 |
Name | Noonan syndrome-like disorder with loose anagen hair |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a RASopathy |