Disease Index

type of cancer

Alkaptonuria is an autosomal recessive metabolic disorder caused by deficiency of homogentisate 1,2-dioxygenase, resulting in accumulation of homogentisic acid. Characteristic features include dark urine upon standing, ochronosis (bluish-black pigmentation of connective tissues), and progressive arthropathy typically manifesting in the third to fourth decade. The estimated prevalence is 1 in 250,000 to 1 in 1,000,000, with higher rates in certain populations such as Slovakia and the Dominican Republic.

human disease

congenital disorder of nervous system

aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure

human disease

condition in which hair is lost from some or all areas of the body

medical condition

Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous

human disease

This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism

cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has symptom convulsions

heavy chain disease that results from an overproduction of alpha antibodies (IgA)

human disease

thalassemia involving the hemoglobin genes HBA1 and HBA2

genetic disorder that may result in lung disease or liver disease

hemorrhagic disease that has material basis in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes

human disease

human disease

lysosomal storage disease that has material basis in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome

human disease

human disease

Human disease

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age

human disease

alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21

human disease