loading...| Preferred Name | KERATIN 14, TYPE I | |
| Synonyms |
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED DERMATOPATHIA PIGMENTOSA RETICULARIS KRT14 KA14 K14 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/148066 |
|
| altLabel |
EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED DERMATOPATHIA PIGMENTOSA RETICULARIS KRT14 KA14 K14 EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME |
|
| cui |
C5561924 C5562090 C0343111 C0406778 C5562089 C0079295 C0080333 C1416717 |
|
| Gene Locus |
17q21.1 |
|
| Gene Symbol |
EBS1D EBS1C KRT14 EBS1B EBS1A |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/148066.0020 http://purl.bioontology.org/ontology/OMIM/148066.0024 http://purl.bioontology.org/ontology/OMIM/148066.0023 http://purl.bioontology.org/ontology/OMIM/148066.0021 http://purl.bioontology.org/ontology/OMIM/148066.0022 http://purl.bioontology.org/ontology/OMIM/148066.0008 http://purl.bioontology.org/ontology/OMIM/148066.0003 http://purl.bioontology.org/ontology/OMIM/148066.0001 http://purl.bioontology.org/ontology/OMIM/148066.0005 http://purl.bioontology.org/ontology/OMIM/148066.0002 http://purl.bioontology.org/ontology/OMIM/148066.0007 http://purl.bioontology.org/ontology/OMIM/148066.0004 http://purl.bioontology.org/ontology/OMIM/148066.0006 http://purl.bioontology.org/ontology/OMIM/148066.0009 http://purl.bioontology.org/ontology/OMIM/148066.0019 http://purl.bioontology.org/ontology/OMIM/148066.0011 http://purl.bioontology.org/ontology/OMIM/148066.0014 http://purl.bioontology.org/ontology/OMIM/148066.0017 http://purl.bioontology.org/ontology/OMIM/148066.0010 http://purl.bioontology.org/ontology/OMIM/148066.0012 http://purl.bioontology.org/ontology/OMIM/148066.0016 http://purl.bioontology.org/ontology/OMIM/148066.0018 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
148066 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
KERATIN 14, TYPE I |
|
| tui |
T047 T019 T028 |