Phenotypes associated with the disease Neurofibroma (ORPHA:252183):
- Neurofibroma (HP:0001067): A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:252183)
- Periarticular subcutaneous nodules (HP:0007470): Subcutaneous nodules that are located in the vicinity of joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252183)
- Plexiform neurofibroma (HP:0009732): A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252183)
- Enlarged peripheral nerve (HP:0012645): Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252183)
- Subcutaneous neurofibroma (HP:0100698): A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:252183)
- Abnormal cranial nerve morphology (HP:0001291): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Peripheral nerve compression (HP:0003406). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Paraspinal neurofibroma (HP:0006751): A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Symmetric spinal nerve root neurofibromas (HP:0006851): Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Spinal neurofibroma (HP:0009735): A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:252183)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Intestinal bleeding (HP:0002584): Bleeding from the intestines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Multiple intestinal neurofibromatosis (HP:0005220). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Atypical neurofibromatosis (HP:0007524). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Palmar neurofibroma (HP:0007576): A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Peripheral schwannoma (HP:0009593): The presence of a peripheral schwannoma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Enlargement of parotid gland (HP:0011801): Increased size of the parotid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Facial neoplasm (HP:0012289): A tumor (abnormal growth of tissue) of the face. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Abnormal biliary tract morphology (HP:0012440): A structural abnormality of the biliary tree. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Spinal meningioma (HP:0100010). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Neoplasm of the breast (HP:0100013): A tumor (abnormal growth of tissue) of the breast. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Neoplasia of the pleura (HP:0100527). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
- Neoplasm of the trachea (HP:0100551): A neoplasm of the trachea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:252183)
Not associated with this disease:
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: TAS. (ORPHA:252183)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. (ORPHA:252183)