| Metadata | |
|---|---|
| ID | DOID:0111725 |
| Name | geleophysic dysplasia 1 |
| Definition | A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. https://www.ncbi.nlm.nih.gov/pubmed/21683322 |
| Xrefs | |
| Synonyms |
GPHYSD1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |