loading...| Preferred Name |
SPONDYLOCOSTAL DYSOSTOSIS 5 |
| Synonyms |
SPONDYLOTHORACIC DYSOSTOSIS |
| ID |
http://purl.bioontology.org/ontology/OMIM/122600 |
| altLabel |
SPONDYLOTHORACIC DYSOSTOSIS TACS SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES SPONDYLOCOSTAL DYSPLASIA COSTOVERTEBRAL SEGMENTATION ANOMALIES SCDO5 |
| cui |
C4083048 |
| Gene Locus |
16p11.2 |
| Gene Symbol |
TBX6 SCDO5 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036587 http://purl.bioontology.org/ontology/OMIM/MTHU003435 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU007926 http://purl.bioontology.org/ontology/OMIM/MTHU017665 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU001106 http://purl.bioontology.org/ontology/OMIM/MTHU036562 http://purl.bioontology.org/ontology/OMIM/MTHU009330 http://purl.bioontology.org/ontology/OMIM/MTHU007389 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
122600 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPONDYLOCOSTAL DYSOSTOSIS 5 |
| Scope Statement |
Intrafamilial variability of features [MISCELLANEOUS] Caused by mutation in the T-box 6 gene (TBX6, 602427.0001) [MOLECULAR BASIS] A risk haplotype (602427.0003) in addition to a null mutation is present in most patients [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0112363 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007389 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |