OBO ID: DOID:0080691 |
Term Name: | Noonan syndrome-like disorder with loose anagen hair | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080691 ) |
OTHER Noonan syndrome-like disorder with loose anagen hair PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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shoc2uky101/uky101 | standard conditions | Jang et al., 2018 |
WT + MO1-shoc2 | standard conditions | Jang et al., 2018 |
PHENOTYPE
No data available
CITATIONS (1)
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