Disease Index

achondrogenesis that has material basis in mutation in the SLC26A2 gene which results in umbilical or inguinal hernia and a prominent rounded abdomen

achondrogenesis that has material basis in mutations in the COL2A1 gene which results in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located in vertebral column or located in pelvis

osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones

human illness, a type of color blindness

hereditary disease of the endocrine system

medical condition

medical condition

human disease

human disease

Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway

Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway

human disease

human disease

Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency

subtype of central diabetes insipidus (CDI, see this term), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production

instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual

human disease

instance of cutis laxa that is acquired during the lifetime of the individual

medical condition

human disease

instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual

human disease

human disease

complete generalized lipodystrophy that is charcterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth

human disease

human disease

human disease

disease