| Metadata | |
|---|---|
| ID | DOID:0080020 |
| Name | Jansen's metaphyseal chondrodysplasia |
| Definition | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype, http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia |
| Xrefs | |
| Synonyms |
Jansen Disease [EXACT] Jansen metaphyseal chondrodysplasia [EXACT] Jansen Metaphyseal Dysostosis [EXACT] Murk Jansen Type Metaphyseal Chondrodysplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has phenotype some Disproportionate short-limb short stature |