loading...| Preferred Name |
neurofibromatosis-Noonan syndrome |
| Synonyms |
NFNS |
| Definitions |
A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111683 |
| database_cross_reference |
OMIM:601321 SNOMEDCT_US_2022_09_01:715344006 MESH:C537393 UMLS_CUI:C2931482 ORDO:638 GARD:372 |
| definition |
A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. |
| has exact synonym |
NFNS neurofibromatosis with Noonan phenotype neurofibromatosis type 1-Noonan syndrome Noonan neurofibromatosis syndrome |
| has material basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111683 |
| in_subset | |
| label |
neurofibromatosis-Noonan syndrome |
| notation |
DOID:0111683 |
| prefLabel |
neurofibromatosis-Noonan syndrome |
| subClassOf |