01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- Anencephaly
- Standard Disease Name
- anencephaly
- MeSH Tree
- No data
- ICD-10
- Q00.0
Identifiers
- DO ID
- No data
- MeSH ID
- D000757
- OMIM ID
- MTHU011716|206500
- UMLS ID
- C0002902
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_CDISC_1602D:Absence of the cranial region of the head, with the brain absent or reduced. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.|MSH2017_2016_08_12: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)|CSP2006:congenital 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; affected infants are only capable of primitive reflexes and usually do not survive for more than two weeks; complete absence of the brain is rare.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease8 Targets