loading...| Preferred Name |
DESMOGLEIN 1 |
| Synonyms |
PALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE |
| ID |
http://purl.bioontology.org/ontology/OMIM/125670 |
| altLabel |
PALMOPLANTAR KERATODERMA I, STRIATE OR DIFFUSE ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE PALMOPLANTAR KERATODERMA I, FOCAL PALMOPLANTAR KERATODERMA I, STRIATE PEMPHIGUS FOLIACEUS ANTIGEN PFA DSG1 |
| cui |
C1414168 C2931122 C3809719 C4016017 C4016018 |
| Gene Locus |
18q12.1-q12.2 |
| Gene Symbol |
EPKHE DSG1 PPKS1 SPPK1 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/125670.0003 http://purl.bioontology.org/ontology/OMIM/125670.0004 http://purl.bioontology.org/ontology/OMIM/125670.0008 http://purl.bioontology.org/ontology/OMIM/125670.0009 http://purl.bioontology.org/ontology/OMIM/125670.0001 http://purl.bioontology.org/ontology/OMIM/125670.0005 http://purl.bioontology.org/ontology/OMIM/125670.0006 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
125670 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
DESMOGLEIN 1 |
| tui |
T028 T033 T047 |