holoprosencephaly
Information
- Disease name
- holoprosencephaly
- Disease ID
- DOID:4621
- Description
- "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." [url:http\://en.wikipedia.org/wiki/Holoprosencephaly, url:http\://www.ncbi.nlm.nih.gov/books/NBK1530/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00005016 | Completed | Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopresencephaly | March 2000 | February 2001 | |
| NCT00088426 | Completed | Clinical and Genetic Studies on Holoprosencephaly | January 23, 2004 | April 16, 2020 | |
| NCT00645645 | Completed | A Study of the Genetic Analysis of Brain Disorders | June 1, 2008 | January 19, 2021 | |
| NCT04691414 | Completed | Retrospective Study Using Next Generation Sequencing (NGS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects. | February 10, 2021 | December 6, 2021 |
- Disase is a (Disease Ontology)
- DOID:2490
- Cross Reference ID (Disease Ontology)
- GARD:6665
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q04.2
- Cross Reference ID (Disease Ontology)
- MESH:D016142
- Cross Reference ID (Disease Ontology)
- MIM:PS236100
- Cross Reference ID (Disease Ontology)
- NCI:C74988
- Cross Reference ID (Disease Ontology)
- ORDO:2162
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:30915001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079541
- Exact Synonym (Disease Ontology)
- Holoprosencephaly sequence
- HPO alt_id (Human Phenotype Ontology)
- HP:0009807
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0001360
- OMIM Phenotype Series Number (OMIM)
- PS236100
- OrphaNumber from OrphaNet (Orphanet)
- 2162
- ICD10 preferred id (Insert disease from ICD10)
- D0013539
- ICD10 class code (Insert disease from ICD10)
- Q04.2
- MeSH unique ID (MeSH (Medical Subject Headings))
- D016142