loading...| Preferred Name |
SCHOPF-SCHULZ-PASSARGE SYNDROME |
| Synonyms |
KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS |
| ID |
http://purl.bioontology.org/ontology/OMIM/224750 |
| altLabel |
KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS SSPS ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA |
| cui |
C1857069 |
| Gene Locus |
2q35 |
| Gene Symbol |
WNT10A STHAG4 OODD SSPS |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000701 http://purl.bioontology.org/ontology/OMIM/MTHU013255 http://purl.bioontology.org/ontology/OMIM/MTHU013253 http://purl.bioontology.org/ontology/OMIM/MTHU002027 http://purl.bioontology.org/ontology/OMIM/MTHU007784 http://purl.bioontology.org/ontology/OMIM/MTHU003747 http://purl.bioontology.org/ontology/OMIM/MTHU000129 http://purl.bioontology.org/ontology/OMIM/MTHU013254 http://purl.bioontology.org/ontology/OMIM/MTHU013252 http://purl.bioontology.org/ontology/OMIM/MTHU036696 http://purl.bioontology.org/ontology/OMIM/MTHU000128 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
600077 |
| notation |
224750 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SCHOPF-SCHULZ-PASSARGE SYNDROME |
| Scope Statement |
Caused by mutation in the wingless-type MMTV integration site family, member 10A gene (WNT10A, 606268.0002) [MOLECULAR BASIS] |
| tui |
T047 |