breast giant fibroadenoma

A breast fibroadenoma that is larger than 5 cm.

Paget's disease of bone 4

A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972.

spitzoid melanoma

A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia.

anauxetic dysplasia

A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.

autosomal recessive distal hereditary motor neuronopathy 3

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.

congenital dyserythropoietic anemia type III

A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25.

erythema nodosum

A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.

solitary mastocytoma of the skin

A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter.

large congenital melanocytic nevus

A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.

metabolic dysfunction-associated steatotic liver disease

A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:n(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.n(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).n(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.n(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.n(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment.