loading...| Preferred Name |
LERI-WEILL DYSCHONDROSTEOSIS |
| Synonyms |
DCO |
| ID |
http://purl.bioontology.org/ontology/OMIM/127300 |
| altLabel |
DCO DYSCHONDROSTEOSIS MADELUNG DEFORMITY LWD |
| cui |
C0152441 C0265309 |
| Gene Locus |
Ypter-p11.2 |
| Gene Symbol |
SHOXY |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018571 http://purl.bioontology.org/ontology/OMIM/MTHU005513 http://purl.bioontology.org/ontology/OMIM/MTHU026641 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU067119 http://purl.bioontology.org/ontology/OMIM/MTHU018574 http://purl.bioontology.org/ontology/OMIM/MTHU018572 http://purl.bioontology.org/ontology/OMIM/MTHU017453 http://purl.bioontology.org/ontology/OMIM/MTHU018570 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
127300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
LERI-WEILL DYSCHONDROSTEOSIS |
| Scope Statement |
Madelung deformity more frequent and more severe in females [MISCELLANEOUS] Caused by mutation in the short stature homeobox gene (SHOX, 312865.0002) [MOLECULAR BASIS] SHOX is located in the pseudoautosomal region of the X and Y chromosomes [MISCELLANEOUS] Female preponderance [MISCELLANEOUS] |
| tui |
T019 T047 |