DiseaseID 21764
小头畸形
disease
PSY2004:Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development.|NCI2016_02D:A congenital or acquired developmental disorder in which the
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 21764
- Core Entity Id
- 80516
- Source Entity Count
- 1
- Preferred Name
- Microcephaly
- Name Cn
- 小头畸形
- Name Pinyin
- Xiao Tou Ji Xing
- Name En
- Microcephaly
- 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; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; physical disorderdisease of mental health; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entity; physical disordergenetic disease; disease of mental health
- Disease Definition
- PSY2004:Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development.|NCI2016_02D:A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.|MSH2017_2016_08_12: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.)|CSP2006:abnormal smallness of the brain.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Microcephaly
Role
preferred
Name
Mental Retardation, Autosomal Dominant 33
Role
preferred
Name
Microlissencephaly
Role
preferred
Name
Autosomal Dominant Primary Microcephaly
Role
preferred
Name
Microcephaly, Amish Type
Role
preferred
Name
Severe Congenital Microcephaly
Role
preferred
Name
Autosomal Dominant Non-Syndromic Intellectual Disability 33
Role
alias
Name
MRD33
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001942HBDIS018576HBDIS022627HBDIS025775
Me Sh
D008831
Omim
616311
Umls
C0025958C0220693C1846648C1956147C4225375
Icd10
Q02
Sym Map
SMDE00639SMDE00978SMDE03821SMDE10973SMDE10979
Do Class
DOID:0080015DOID:150DOID:630DOID:7
Dis Ge Net
C0025958C1956147C3853041C4225375
Orphanet
251499742
Umls Sty
T019T047T048
Me Sh Class
C05C10C16
Etcm Disease
Mental Retardation, Autosomal Dominant 33Microcephaly, Amish Type
Tcmbank Disease
136701475536615528
Itcmdb Generated
ITX-DISEASE-66870C8EC632ITX-DISEASE-78C2FA356B60ITX-DISEASE-9282913964CBITX-DISEASE-C53C25DBC5BEITX-DISEASE-E00A2706417D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Mental Retardation, Autosomal Dominant 33 Details pageDisease Microcephaly, Amish Type Details page
Do Class Name
disease of anatomical entity; physical disordergenetic disease; disease of mental health
Disease Type
disease
Do Disease Class
disease of anatomical entity; physical disorderdisease of mental health; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityMental or Behavioral Dysfunction
Basic Information
Disease Name
Mental Retardation, Autosomal Dominant 33
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Cardiovascular diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Mental diseases;Neuronal diseases;Skin diseases
Disease Name
Microcephaly, Amish Type
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Nephrological diseases;Neuronal diseases
Disease Definition
PSY2004:Smallness of the head produced by incomplete development of the brain, often associated with below normal mental and cognitive development.|NCI2016_02D:A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.|MSH2017_2016_08_12: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.)|CSP2006:abnormal smallness of the brain.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityMental or Behavioral Dysfunction