Neurofibromatosis, familial spinal

Preferred Label : Neurofibromatosis, familial spinal;

CISMeF acronym : FSNF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FSNF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurofibromin gene (NF1, 162200.0018);

Prefixed ID : #162210;

Détails

Origin ID

162210;

UMLS CUI

C1834235;

Automatic exact mappings (from CISMeF team)
- neurofibromatosis 1 [DO Concept]
Currated CISMeF NLP mapping
- Familial spinal neurofibromatosis [ICD-11 More detail]
- Familial spinal neurofibromatosis [ORDO Disease]
- Familial spinal neurofibromatosis (disorder) [SNOMED CT concept]
- neurofibromatosis, familial spinal [MeSH concept]
- neurofibromatosis, familial spinal [MeSH Supplementary Concept]
DO Cross reference
- neurofibromatosis 1 [DO Concept]
Genes related to phenotype
- Neurofibromin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Cafe-au-lait spots may or may not be present [HPO term]
- Freckling [HPO term]
- Lisch nodules [HPO term]
- Lower limb muscle weakness [HPO term]
- Middle age onset [HPO term]
- Neurofibromas [HPO term]
- Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels [HPO term]
- Paraparesis [HPO term]
- Plexiform neurofibroma [HPO term]
- Spinal neurofibromas [HPO term]
- Symmetric spinal nerve root neurofibromas [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Familial spinal neurofibromatosis [ORDO Disease]
- Neurofibromatosis type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial spinal neurofibromatosis [ORDO Disease]
- Familial spinal neurofibromatosis [ICD-11 More detail]
- Familial spinal neurofibromatosis (disorder) [SNOMED CT concept]
- neurofibromatosis, familial spinal [MeSH Supplementary Concept]
- neurofibromatosis, familial spinal [MeSH concept]

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