No. | Disease Name | Definition | Categories | MESH ID | |
---|---|---|---|---|---|
16 | Disorders of Sex Development | In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. | Congenital abnormality | Endocrine system disease | Urogenital disease (female) | Urogenital disease (male) | D012734 | |
17 | Heart Defects, Congenital | Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. | Cardiovascular disease | Congenital abnormality | D006330 | |
18 | Heart Septal Defects, Ventricular | Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. | Cardiovascular disease | Congenital abnormality | D006345 | |
19 | Hypoplastic Left Heart Syndrome | A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes. | Cardiovascular disease|Congenital abnormality | D018636 | |
20 | Hypospadias | A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA. | Congenital abnormality|Urogenital disease (female)|Urogenital disease (male) | D007021 | |
21 | Infertility, Female | Diminished or absent ability of a female to achieve conception. | Urogenital disease (female) | D007247 | |
22 | Infertility, Male | The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. | Urogenital disease (male) | D007248 | |
23 | Limb Deformities, Congenital | Congenital structural deformities of the upper and lower extremities collectively or unspecified. | Congenital abnormality | Musculoskeletal disease | D017880 | |
24 | Microcephaly | A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) | Congenital abnormality | Musculoskeletal disease | Nervous system disease | D008831 | |
25 | Nervous System Malformations | Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis. | Congenital abnormality | Nervous system disease | D009421 | |
26 | Neural Tube Defects | Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41) | Congenital abnormality|Nervous system disease | D009436 | |
27 | Obesity | A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). | Nutrition disorder | Signs and symptoms | D009765 | |
28 | Oligospermia | A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. | Urogenital disease (male) | D009845 | |
29 | Polycystic Ovary Syndrome | A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. | Cancer | Endocrine system disease | Urogenital disease (female) | D011085 | |
30 | Prostatic Neoplasms | Tumors or cancer of the PROSTATE. | Cancer|Urogenital disease (male) | D011471 |
For any questions on the database, please send E-mail to caoyuedi@sjtu.edu.cn.
Copyright © Haifeng Chen Lab, Shanghai Jiao Tong University.