Disease #03194 (SEMDAG (dysplasia, spondyloepimetaphyseal, Aggrecan type (SEMDAG)), OMIM:612813)

Official abbreviation SEMDAG
Name dysplasia, spondyloepimetaphyseal, Aggrecan type (SEMDAG)
OMIM ID 612813
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ACAN
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

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00375200 - - 3-generation family, 1 affected, unaffected heterozygous carrier parents and grandparents. F no China Chinese - - - - SEMDAG Short stature ACAN ACAN 1 1 Xiuli Zhao
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