- familial erythrocytosis 4 [DOID:0080339]
A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
- distal arthrogryposis type 5 [DOID:0111608]
A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21.
- immunodeficiency 31C [DOID:0111946]
A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2.
- fragile X-associated tremor/ataxia syndrome [DOID:0050879]
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
- aromatase excess syndrome [DOID:0090122]
A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene.
- anosognosia [DOID:0060133]
An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
- STING-associated vasculopathy with onset in infancy [DOID:0111457]
An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.
- nephrogenic syndrome of inappropriate antidiuresis [DOID:0112121]
A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.
- spondyloepiphyseal dysplasia Nishimura type [DOID:0112288]
A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1.