DiseaseID 18540
常染色体隐性遗传原发性小头畸形
disease
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalie
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Formula: 20Herb: 6Symptom: 2Target: 24Links: 52
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 18540
- Core Entity Id
- 76952
- Source Entity Count
- 1
- Preferred Name
- Autosomal Recessive Primary Microcephaly
- Name Cn
- 常染色体隐性遗传原发性小头畸形
- Name Pinyin
- Chang Ran Se Ti Yin Xing Yi Chuan Yuan Fa Xing Xiao Tou Ji Xing
- Name En
- Autosomal Recessive Primary Microcephaly
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity; genetic disease; physical disorder
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity; physical disorder
- Disease Definition
- Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalie
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Autosomal Recessive Primary Microcephaly
Role
preferred
Name
Microcephaly 11, Primary, Autosomal Recessive
Role
preferred
Name
Microcephaly 15, Primary, Autosomal Recessive
Role
preferred
Name
Microcephaly 4, Primary, Autosomal Recessive
Role
preferred
Name
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
Role
preferred
Name
Microcephaly With Simplified Gyral Pattern
Role
preferred
Name
Microcephaly, Primary Autosomal Recessive, 2 (Disorder)
Role
preferred
Name
Microcephaly, Primary Autosomal Recessive, 3
Role
preferred
Name
MCPH11
Role
alias
Name
MCPH15
Role
alias
Name
MCPH4
Role
alias
Name
Mcph2
Role
alias
Name
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Role
alias
Name
Microcephaly 3, Primary, Autosomal Recessive
Role
alias
Name
Microcephaly, Primary Autosomal Recessive, 4
Role
alias
Name
Primary Autosomal Recessive Microcephaly
Role
alias
Name
Primary Autosomal Recessive Microcephaly 11
Role
alias
Name
Primary Autosomal Recessive Microcephaly 15
Role
alias
Name
Primary Autosomal Recessive Microcephaly 17
Role
alias
Name
Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations
Role
alias
Name
Primary Autosomal Recessive Microcephaly 3
Role
alias
Name
Primary Autosomal Recessive Microcephaly 4
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS017511HBDIS017550HBDIS018034HBDIS022069HBDIS022347HBDIS025719HBDIS026291HBDIS028968
Omim
603802604317604321604804615414616486617090
Umls
C1858516C37C3711387C3809431C4225310
Sym Map
SMDE00635SMDE02850SMDE03396SMDE04841
Do Class
DOID:0080015DOID:630DOID:7
Dis Ge Net
C1858108C1858516C1858535C1863516C3711387C3809431C4225310C4310723
Orphanet
2512
Umls Sty
T047
Me Sh Class
C05C10C16
Etcm Disease
Microcephaly 11, Primary, Autosomal RecessiveMicrocephaly 15, Primary, Autosomal RecessiveMicrocephaly 17, Primary, Autosomal RecessiveMicrocephaly 4, Primary, Autosomal Recessive
Tcmbank Disease
146701651945919727247022519326044
Itcmdb Generated
ITX-DISEASE-1BFE3192F1D0ITX-DISEASE-452152656F89ITX-DISEASE-97F443A13AC0ITX-DISEASE-C482486B7AE3ITX-DISEASE-EA22C457C702
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Microcephaly 11, Primary, Autosomal Recessive Details pageDisease Microcephaly 15, Primary, Autosomal Recessive Details pageDisease Microcephaly 17, Primary, Autosomal Recessive Details pageDisease Microcephaly 4, Primary, Autosomal Recessive Details page
Do Class Name
genetic disease; disease of anatomical entity; physical disorder
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease; physical disorder
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Microcephaly 11, Primary, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Microcephaly 15, Primary, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Microcephaly 17, Primary, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Microcephaly 4, Primary, Autosomal Recessive
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalie
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
Disease or Syndrome