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loading...| Preferred Name |
MAL DE MELEDA |
|
| Synonyms |
MELEDA DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/248300 |
|
| altLabel |
MELEDA DISEASE MDM KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS |
|
| cui |
C0025221 |
|
| Gene Locus |
8qter |
|
| Gene Symbol |
MDM SLURP1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000682 http://purl.bioontology.org/ontology/OMIM/MTHU011834 http://purl.bioontology.org/ontology/OMIM/MTHU011833 http://purl.bioontology.org/ontology/OMIM/MTHU011835 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000702 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
248300 |
|
| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
|
| prefLabel |
MAL DE MELEDA |
|
| Scope Statement |
Onset in early infancy [MISCELLANEOUS] Caused by mutations in the secreted LY6/uPAR-related protein 1 gene (SLURP1, 606119.0001) [MOLECULAR BASIS] |
|
| tui |
T047 T019 |
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