No. | Disease Name | Definition | Categories | MESH ID | |
---|---|---|---|---|---|
1 | Abnormalities, Drug-Induced | Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. | Congenital abnormality | D000014 | |
2 | Abnormalities, Multiple | Congenital abnormalities that affect more than one organ or body structure. | Congenital abnormality | D000015 | |
3 | Abnormalities, Severe Teratoid | Marked developmental anomalies of a fetus or infant. | Congenital abnormality | D009008 | |
4 | Anencephaly | A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247) | Congenital abnormality | Nervous system disease | D000757 | |
5 | Anophthalmos | Congenital absence of the eye or eyes. | Congenital abnormality | Eye disease | D000853 | |
6 | Anorectal Malformations | Congenital defects in the anus and the rectum often involving the urinary and genital tracts. | Congenital abnormality | Digestive system disease | D000071056 | |
7 | Anus, Imperforate | A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME. | Congenital abnormality | Digestive system disease | D001006 | |
8 | Aortic Coarctation | A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. | Cardiovascular disease | Congenital abnormality | D001017 | |
9 | asthenozoospermia | A condition in which the percentage of motile sperm is abnormally low. | Urogenital disease (male) | D053627 | |
10 | Bladder Exstrophy | A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top front surface of the bladder, as well as the lower abdominal wall; SKIN; MUSCLES; and the pubic bone. | Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) | D001746 | |
11 | Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia | Congenital abnormality | Digestive system disease | Genetic disease (inborn) | Mental disorder | Nervous system disease | Signs and symptoms | Skin disease | C564519 | ||
12 | Cardiovascular Abnormalities | Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. | Cardiovascular disease | Congenital abnormality | D018376 | |
13 | Congenital Abnormalities | Malformations of organs or body parts during development in utero. | Congenital abnormality | D000013 | |
14 | Craniofacial Abnormalities | Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. | Congenital abnormality|Musculoskeletal disease | D019465 | |
15 | cryptorchidism | A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis. | Congenital abnormality|Endocrine system disease|Urogenital disease (male) | D003456 |
For any questions on the database, please send E-mail to caoyuedi@sjtu.edu.cn.
Copyright © Haifeng Chen Lab, Shanghai Jiao Tong University.