Visualize Submit Comment

Metadata
ID	DOID:0070825
PURL	http://purl.obolibrary.org/obo/DOID_0070825 Copy Copied!
Name	spondyloepiphyseal dysplasia, Holling type
Definition	A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/35266227/
Xrefs	MIM:621345 UMLS_CUI:C6065910
SKOS	exactMatch UMLS_CUI:C6065910 exactMatch MIM:621345
Subsets	DO_rare_slim
Synonyms	SEDH [EXACT]
Parent Relationships	is_a spondyloepiphyseal dysplasia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance