| Metadata | |
|---|---|
| ID | DOID:0080052 |
| Name | acromesomelic dysplasia, Grebe type |
| Definition | An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, https://en.wikipedia.org/wiki/Acromesomelic_dysplasia |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
acromesomelic dysplasia-2A [EXACT] grebe chondrodysplasia [EXACT] |
| Parent Relationships |