All terms in MONDO_CLINGEN

Label Id Description
keratosis MONDO_0006566 [A skin disorder consisting of hypertrophy of the stratum corneum of the skin.]
skin disorder MONDO_0005093 [Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.]
disorder of development or morphogenesis MONDO_0021147 [Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.]
platyspondylic dysplasia, Torrance type MONDO_0007895
spondylodysplastic dysplasia MONDO_0019694
Noonan syndrome with multiple lentigines MONDO_0007893 [A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.]
congenital bile acid synthesis defect 1 MONDO_0011906 [Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.]
pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis MONDO_0018554 [A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.]
pulmonary arterial hypertension MONDO_0015924 [Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease).]
Hartsfield-Bixler-Demyer syndrome MONDO_0014196
Siddiqi syndrome MONDO_0032842
microcornea-myopic chorioretinal atrophy MONDO_0014195
beta thalassemia MONDO_0019402 [Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).]
thalassemia MONDO_0000984 [An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.]
beta-thalassemia and related diseases MONDO_0017145
hypogonadotropic hypogonadism MONDO_0018555 [Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.]
primary ciliary dyskinesia 23 MONDO_0014193 [Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.]
primary ciliary dyskinesia MONDO_0016575 [A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).]
combined immunodeficiency due to MALT1 deficiency MONDO_0014197 [Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.]
methylcobalamin deficiency type cblG MONDO_0009609 [Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.]