Metadata | |
---|---|
ID | DOID:0050640 |
Name | anauxetic dysplasia 1 |
Definition | An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/books/NBK84550/, https://pubmed.ncbi.nlm.nih.gov/16252239/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
spondylometaepiphyseal dysplasia, Menger type [EXACT] |
Parent Relationships |
is_a anauxetic dysplasia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |