ectodermal dysplasia
Information
- Disease name
- ectodermal dysplasia
- Disease ID
- DOID:2121
- Description
- "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings." [url:https\://en.wikipedia.org/wiki/Ectodermal_dysplasia, url:https\://medlineplus.gov/ency/article/001469.htm, url:https\://www.omim.org/entry/305100]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01108770 | Completed | Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia | July 2010 | October 2010 | |
| NCT00001211 | Completed | Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects | January 1986 | December 2000 | |
| NCT06330324 | Enrolling by invitation | Reproductive Options in Inherited Skin Diseases | January 1, 2024 | September 1, 2026 | |
| NCT06330350 | Recruiting | Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | January 1, 2024 | December 31, 2025 | |
| NCT05954416 | Recruiting | FARD (RaDiCo Cohort) (RaDiCo-FARD) | March 7, 2018 | March 7, 2027 | |
| NCT02896387 | Terminated | Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63 | March 3, 2017 | January 1, 2022 | |
| NCT00266513 | Terminated | Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States | December 14, 2005 | July 11, 2013 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:6317
- Cross Reference ID (Disease Ontology)
- ICD9CM:757.31
- Cross Reference ID (Disease Ontology)
- MESH:D004476
- Cross Reference ID (Disease Ontology)
- MIM:PS305100
- Cross Reference ID (Disease Ontology)
- NCI:C84683
- Cross Reference ID (Disease Ontology)
- ORDO:79373
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:8654005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0013575
- Exact Synonym (Disease Ontology)
- Congenital ectodermal defect
- Exact Synonym (Disease Ontology)
- Congenital ectodermal dysplasia
- HPO alt_id (Human Phenotype Ontology)
- HP:0007615
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0000968
- MeSH unique ID (MeSH (Medical Subject Headings))
- D004476