DiseaseID 3307

无脑畸形

disease

Relationship Network

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Disease: 1Herb: 1Symptom: 2Target: 21Links: 27

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Record Fields

Scalar fields from the final disease record.

Disease Id: 3307
Core Entity Id: 59497
Source Entity Count: 1
Preferred Name: Anencephaly
Name Cn: 无脑畸形
Name Pinyin: Wu Nao Ji Xing
Name En: Anencephaly
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Congenital Abnormality
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Do Class: disease of anatomical entity; physical disorder
Hpo Class: Abnormality of the nervous system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Hpo Class Name: Abnormality of the nervous system
Do Class Name: disease of anatomical entity; physical disorder
Disease Definition: 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.
Version: v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Anencephaly

Role

preferred

Name

Aprosencephaly

Role

preferred

Name

Incomplete Anencephaly, Hemicrania

Role

preferred

Name

Incomplete Anencephaly

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0002323HP:0007268

Herb

HBDIS000163HBDIS007287HBDIS009318

Me Sh

D000757

Omim

206500

Umls

C0002902

Icd10

Q00.0

Sym Map

SMDE05855

Do Class

DOID:0080015DOID:7

Dis Ge Net

C0002902C0302356C0431349

Umls Sty

T019

Hpo Class

HP:0000707

Me Sh Class

C10C16

Etcm Disease

Anencephaly

Tcmbank Disease

226452270223948

Itcmdb Generated

ITX-DISEASE-703C88C4FE64

Attributes

Merged source attributes and domain-specific metadata.

Version

Suppress

Page Title

Disease Anencephaly Details page

Do Class Name

disease of anatomical entity; physical disorder

Disease Type

disease

Hpo Class Name

Abnormality of the nervous system

Do Disease Class

disease of anatomical entity; physical disorder

Hpo Disease Class

Abnormality of the nervous system

Umls Disease Type

Congenital Abnormality

Basic Information

Disease Name

Anencephaly

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Definition

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.

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases

Dis Ge Net Disease Type

disease

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases

Umls Semantic Type Name

Congenital Abnormality