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| Term | Noonan syndrome with multiple lentigines | ID (Ontology) | DOID:14291 (Human Disease) |
| Definition | A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. | ||
| Also Known As | "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" ; "Generalized lentiginosis" ; "Gorlin syndrome II" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ syndrome | |__RASopathy___________________| Noonan syndrome with multiple lentigines 15 rec. |__Noonan syndrome with multiple lentigines 1 7 rec. |__Noonan syndrome with multiple lentigines 2 2 rec. |__Noonan syndrome with multiple lentigines 3 1 rec. |
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| Is a |
autosomal dominant disease RASopathy |
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External Crossreferences & Linkouts
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GARD:1100 MESH:D044542 MIM:PS151100 NCI:C84820 ORDO:500 SNOMEDCT_US_2023_03_01:111306001 UMLS_CUI:C0175704 |
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