01
B3GALT6
No data
Diseases
Spondyloepimetaphyseal Dysplasia With Joint Laxity
spondyloepimetaphyseal dysplasia with joint laxity
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Spondyloepimetaphyseal Dysplasia With Joint Laxity
- Standard Disease Name
- spondyloepimetaphyseal dysplasia with joint laxity
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C562724
- OMIM ID
- 613679|176930
- UMLS ID
- C0272317
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.