eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| oral-facial-digital syndrome | ||||
| Disease ID | 782 |
|---|---|
| Disease | oral-facial-digital syndrome |
| Definition | Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. |
| Synonym | dysplasia linguofacialis oral facial digital syndrome oro-facio-digital syndrome orodigitofacial dysostosis orodigitofacial syndrome orofacial digital syndrome orofacial-digital syndrome orofaciodigital syndrome orofaciodigital syndromes orofaciodigital syndromes [disease/finding] syndrome, orofaciodigital syndromes, orofaciodigital |
| Orphanet | |
| DOID | |
| UMLS | C0029294 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 200894 | ARL13B | 3.732 | DISEASES 10973 | ASCC3 | 3.993 | DISEASES 65250 | C5orf42 | 3.503 | DISEASES 80184 | CEP290 | 2.859 | DISEASES 1280 | COL2A1 | 2.123 | DISEASES 83479 | DDX59 | 5.501 | DISEASES 132884 | EVC2 | 3.021 | DISEASES 57165 | GJC2 | 3.15 | DISEASES 8100 | IFT88 | 4.312 | DISEASES 11127 | KIF3A | 3.369 | DISEASES 8481 | OFD1 | 6.66 | DISEASES 6103 | RPGR | 2.559 | DISEASES 79600 | TCTN1 | 4.398 | DISEASES 51259 | TMEM216 | 4.13 | DISEASES 79583 | TMEM231 | 5.093 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 782 |
|---|---|
| Disease | oral-facial-digital syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0010296 | Ankyloglossia | 1 HP:0010566 | Hamartoma | 1 HP:0002444 | Hypothalamic hamartoma | 1 HP:0002006 | Tessier facial cleft | 1 |
| Disease ID | 782 |
|---|---|
| Disease | oral-facial-digital syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| OFD1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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 | 782 |
|---|---|
| Disease | oral-facial-digital syndrome |
| Case | (Waiting for update.) |