eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ectodermal dysplasias | ||||
| Disease ID | 1028 |
|---|---|
| Disease | ectodermal dysplasias |
| Definition | A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita. |
| Synonym | cong ectodermal dysplas congen ectodermal defect congenital ectodermal defect congenital ectodermal defect (disorder) congenital ectodermal defects congenital ectodermal dysplasia defect congen ectodermal defect, congenital ectodermal defects, congenital ectodermal dysplasia ectodermal dysplasia, ectodermal dysplasias, ectodermal ectodermal defect congen ectodermal defect, congenital ectodermal defects, congenital ectodermal dysplasia ectodermal dysplasia (disorder) ectodermal dysplasia [disease/finding] ectodermal dysplasia, nos |
| Orphanet | |
| DOID | |
| UMLS | C0013575 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0025958 | microcephaly | 2 C0025149 | medulloblastoma | 1 C0013592 | ectropion | 1 C0006840 | candidiasis | 1 C0456909 | vision loss | 1 C0025362 | mental retardation | 1 C0035459 | atrophic rhinitis | 1 C0035321 | retinal tear | 1 C0003090 | ankylosis | 1 C0002895 | sickle cell disease | 1 C0017920 | glucose-6-phosphate dehydrogenase deficiency | 1 C0029454 | osteopetrosis | 1 C0009319 | colitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1028 |
|---|---|
| Disease | ectodermal dysplasias |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0040435 | tooth disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| EDA1 | Het del exon 2 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| EDA1 | Het del exon 1 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853327 | 24100029 | 8517 | IKBKG | umls:C0013575 | BeFree | Here, we investigated the effect of the D406V mutation found in the NEMO ZF of an ectodermal dysplasia with immunodeficiency patients. | 0.010887469 | 2014 | IKBKG | X | 154564418 | A | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1028 |
|---|---|
| Disease | ectodermal dysplasias |
| Case | (Waiting for update.) |