All terms in MONDO_RARE

Label Id Description
NDUFB8 7703
pervasive developmental disorder MONDO_0000594 [A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.]
pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO_0032865
pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO_0000148
NDUFB9 7704
necrobiosis lipoidica MONDO_0006583 [Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.]
dermis disorder MONDO_0021154 [A disease that involves the dermis.]
LPIN2 14450
heart failure MONDO_0005252 [Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.]
heart disorder MONDO_0005267 [A disease involving the heart and/or pericardium.]
palmoplantar keratosis MONDO_0006590 [A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.]
panniculitis MONDO_0006591 [Inflammation of the subcutaneous adipose tissue.]
connective tissue disorder MONDO_0003900 [A disease involving the connective tissue.]
integumentary system disorder MONDO_0002051 [A disease involving the integumental system.]
autism MONDO_0005260 [Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.]
congenital pulmonary airway malformation type 0 MONDO_0017248
congenital pulmonary airway malformation MONDO_0016580 [An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.]
congenital pulmonary airway malformation type 1 MONDO_0017249
pseudoxanthomatous diffuse cutaneous mastocytosis MONDO_0017244 [Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.]
diffuse cutaneous mastocytosis MONDO_0019315 [Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).]