ZFIN Human Disease: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type

OBO ID: DOID:0112291

OBO ID: DOID:0112291

Term Name:	autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type	Search Ontology:
Synonyms:
Definition:	A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. https://pubmed.ncbi.nlm.nih.gov/14755466/
References:	OMIM:609223
Ontology:	Human Disease ( DOID:0112291 )

Relationships

is a type of:	autosomal recessive disease spondyloepiphyseal dysplasia tarda autosomal recessive disease spondyloepiphyseal dysplasia tarda Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None