WormBase Tree Display for DO_term: DOID:0060387
expand all nodes | collapse all nodes | view schema
| DOID:0060387 | Name | chondrodysplasia Blomstrand type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. | ||||
| Synonym | Exact | Blomstrand lethal chondrodysplasia | |||
| Parent | Is_a | DOID:2256 | |||
| DB_info | Database | OMIM | disease | 215045 | |
| Attribute_of | Gene_by_orthology | WBGene00015735 |
