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loading...| Preferred Name |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE |
| Synonyms |
PSEUDO-MORQUIO SYNDROME, TYPE 2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/184095 |
| altLabel |
PSEUDO-MORQUIO SYNDROME, TYPE 2 SED, MAROTEAUX TYPE |
| cui |
C3159322 |
| Gene Locus |
12q24.1 |
| Gene Symbol |
SSQTL1 SMAL BCYM3 HMSN2C TRPV4 SPSMA VROAC CMT2C |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
184095 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0111553 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C563218 | Medical Subject Headings | CUI |