lissencephaly
Information
- Disease name
- lissencephaly
- Disease ID
- DOID:0050453
- Description
- "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation." [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| COL4A1 | 13 | 110,148,963 | 110,307,157 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2490
- Cross Reference ID (Disease Ontology)
- GARD:12291
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q04.3
- Cross Reference ID (Disease Ontology)
- MESH:D054082
- Cross Reference ID (Disease Ontology)
- MIM:PS607432
- Cross Reference ID (Disease Ontology)
- NCI:C103921
- Cross Reference ID (Disease Ontology)
- ORDO:102009
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:204036008
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:23024003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0266463
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0266483
- HPO alt_id (Human Phenotype Ontology)
- HP:0002537
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0001339
- OMIM Phenotype Series Number (OMIM)
- PS607432
- OrphaNumber from OrphaNet (Orphanet)
- 48471
- MeSH unique ID (MeSH (Medical Subject Headings))
- D054082