- Clouston syndrome [DOID:14693]
An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.
- congenital fibrosis of the extraocular muscles 1 [DOID:0081015]
A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
- obesity [DOID:9970]
An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
- amyotrophic lateral sclerosis type 25 [DOID:0081379]
An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively).
- severe COVID-19 [DOID:0081013]
A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, 60 breaths/min in children < 2 months old, 50 in children 211 months old, and 40 in children 15 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs.