- reticulate acropigmentation of Kitamura [DOID:0060258]
A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
- congenital fibrosis of the extraocular muscles 3A [DOID:0081017]
A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
- isolated ectopia lentis [DOID:0111148]
A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age.
- punctate palmoplantar keratoderma [DOID:0060361]
A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
- ankylosis [DOID:227]
An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
- optic neuritis [DOID:1210]
An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
- thalassemia minor [DOID:0080774]
A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia.
- juvenile xanthogranuloma [DOID:4424]
A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk.
- monogenic disease [DOID:0050177]
A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
- relapsing-remitting multiple sclerosis [DOID:2378]
A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.