DiseaseID 26669
无脑回畸形2
Lissencephaly 2
SNOMEDCT_US_2016_09_01:Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge a
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Disease: 1Target: 19Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26669
- Core Entity Id
- 119237
- Source Entity Count
- 1
- Preferred Name
- Lissencephaly 2
- Name Cn
- 无脑回畸形2
- Name Pinyin
- Wu Nao Hui Ji Xing 2
- Name En
- Lissencephaly 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive.|JABL99:A lissencephaly syndrome characterized by smoothness of the surface of the brain (lissencephaly type I) with thickening of the cerebral cortex (pachygyria), absence of gyri and sulci (agyria), microcephaly, mental retardation, low sloping forehead, and prominent nasal bridge.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lissencephaly 2
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0796089
Sym Map
SMDE04580
Etcm Disease
Lissencephaly 2
Itcmdb Generated
ITX-DISEASE-2FE7DDB4D5B8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Lissencephaly 2 Details page
Basic Information
Disease Name
Lissencephaly 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Muscle diseases;Neuronal diseases;Respiratory diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Lissencephaly syndrome, Norman-Roberts type is the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Severe intellectual deficit, spasticity and epilepsy are also present. Mutations in the RELN gene (7q22) have been identified in some patients. Transmission is autosomal recessive.|JABL99:A lissencephaly syndrome characterized by smoothness of the surface of the brain (lissencephaly type I) with thickening of the cerebral cortex (pachygyria), absence of gyri and sulci (agyria), microcephaly, mental retardation, low sloping forehead, and prominent nasal bridge.