loading...| Preferred Name | NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME | |
| Synonyms |
NFJS NAEGELI SYNDROME NFJ SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/161000 |
|
| altLabel |
NFJS NAEGELI SYNDROME NFJ SYNDROME |
|
| cui |
C0343111 |
|
| Gene Locus |
17q21.1 |
|
| Gene Symbol |
EBS1D EBS1C KRT14 EBS1B EBS1A |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013316 http://purl.bioontology.org/ontology/OMIM/MTHU016853 http://purl.bioontology.org/ontology/OMIM/MTHU016855 http://purl.bioontology.org/ontology/OMIM/MTHU016856 http://purl.bioontology.org/ontology/OMIM/MTHU036385 http://purl.bioontology.org/ontology/OMIM/MTHU011664 http://purl.bioontology.org/ontology/OMIM/MTHU016857 http://purl.bioontology.org/ontology/OMIM/MTHU007900 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
161000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME |
|
| Scope Statement |
Onset of hyperpigmentation in early childhood (3 months-6 years) that fades after puberty [MISCELLANEOUS] Caused by mutation in the keratin-14 gene (KRT14, 148066.0015) [MOLECULAR BASIS] Heat intolerance [MISCELLANEOUS] |
|
| tui |
T047 |