FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurofibromatosis 1 ID (Ontology) DOID:0111253 (Human Disease)
Definition A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone.
Also Known As "neurofibromatosis type I" ; "NF1" ; "Peripheral Neurofibromatosis" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      11
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 neurofibromatosis 1      12      3      1
 ameliorates | neurofibromatosis 1       3       --       --
 for disease ribbon | neurofibromatosis 1       --       1       --
 model of | neurofibromatosis 1       9      1       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
RASopathy___________________|
                            neurofibromatosis
                             |__neurofibromatosis 1  16 rec.
                                 |__spinal neurofibromatosis 1 rec.
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Synonyms
  • "neurofibromatosis type I" EXACT
    "NF1" EXACT OMO:0003012
    "Peripheral Neurofibromatosis" EXACT
    "Recklinghausen's neurofibromatosis" EXACT
    "von Recklinghausen Disease" EXACT
Secondary IDs
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ICD10CM:Q85.01
ICD9CM:237.71
MESH:D009456
MIM:162200
NCI:C3273
ORDO:636
SNOMEDCT_US_2023_03_01:92824003
UMLS_CUI:C0027831