| Metadata | |
|---|---|
| ID | DOID:0080044 |
| Name | hypochondrogenesis |
| Definition | An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. http://www.healthline.com/galecontent/hypochondrogenesis, http://en.wikipedia.org/wiki/Hypochondrogenesis, http://ghr.nlm.nih.gov/condition/hypochondrogenesis |
| Xrefs | |
| Parent Relationships |
is_a monogenic disease |
| Subclass Logical Relationships |
has phenotype some Hydrops fetalis disease has location some (vertebral column or bony pelvis) has symptom some bloating disease has basis in some gene |