loading...| Preferred Name |
DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL |
|
| Synonyms |
DKBI HBID |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/127600 |
|
| altLabel |
DKBI HBID |
|
| cui |
C0265966 |
|
| Gene Locus |
4q35 |
|
| Gene Symbol |
DKBI |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU067121 http://purl.bioontology.org/ontology/OMIM/MTHU041242 http://purl.bioontology.org/ontology/OMIM/MTHU067123 http://purl.bioontology.org/ontology/OMIM/MTHU036378 http://purl.bioontology.org/ontology/OMIM/MTHU041252 http://purl.bioontology.org/ontology/OMIM/MTHU041248 http://purl.bioontology.org/ontology/OMIM/MTHU041253 http://purl.bioontology.org/ontology/OMIM/MTHU067124 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown. |
|
| notation |
127600 |
|
| OMIM Entry Type |
5 |
|
| OMIM MimType Value |
perc |
|
| prefLabel |
DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL |
|
| Scope Statement |
Some patients report seasonal variation in symptoms [MISCELLANEOUS] Lesions are present at birth or become apparent in infancy [MISCELLANEOUS] Some patients have only ocular involvement or only oral involvement [MISCELLANEOUS] |
|
| tui |
T047 |