Metadata | |
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ID | DOID:0112292 |
Name | spondyloepiphyseal dysplasia tarda with intellectual disability |
Definition | A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. https://pubmed.ncbi.nlm.nih.gov/3612708/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |