Visualize Submit Comment
Metadata
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

MESH:C564796

MIM:271620

ORDO:163665

UMLS_CUI:C1849053

Subsets

DO_rare_slim

Parent Relationships

is_a spondyloepiphyseal dysplasia tarda

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker