WormBase Tree Display for DO_term: DOID:0080020
expand all nodes | collapse all nodes | view schema
DOID:0080020 | Name | Jansen's metaphyseal chondrodysplasia | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. | ||||
Synonym | Exact | Jansen Disease | |||
Jansen Metaphyseal Dysostosis | |||||
Jansen metaphyseal chondrodysplasia | |||||
Murk Jansen Type Metaphyseal Chondrodysplasia | |||||
Parent | Is_a | DOID:0050736 | |||
DOID:0080019 | |||||
DB_info | Database | OMIM | disease | 156400 | |
Attribute_of | Gene_by_orthology | WBGene00015735 |