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loading...| Preferred Name |
MAL DE MELEDA |
| Synonyms |
MELEDA DISEASE |
| ID |
http://purl.bioontology.org/ontology/OMIM/248300 |
| altLabel |
MELEDA DISEASE KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS MDM |
| cui |
C0025221 |
| Gene Locus |
8qter |
| Gene Symbol |
SLURP1 MDM |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU011835 http://purl.bioontology.org/ontology/OMIM/MTHU011833 http://purl.bioontology.org/ontology/OMIM/MTHU011836 http://purl.bioontology.org/ontology/OMIM/MTHU000682 http://purl.bioontology.org/ontology/OMIM/MTHU000702 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
248300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MAL DE MELEDA |
| Scope Statement |
Caused by mutations in the secreted LY6/uPAR-related protein 1 gene (SLURP1, 606119.0001) [MOLECULAR BASIS] Onset in early infancy [MISCELLANEOUS] |
| tui |
T019 T047 |
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