spondyloepiphyseal dysplasia Kimberley type

Summary
Synonym
  • SEDK
Definition
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
Super Class
autosomal dominant disease spondyloepiphyseal dysplasia
External Links
Disease Ontology
DOID:0112282
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0002983 Micromelia
HP:0002655 Spondyloepiphyseal dysplasia
HP:0005930 Abnormal epiphysis morphology
HP:0000926 Platyspondyly
HP:0003508 Proportionate short stature
HP:0010306 Short thorax
HP:0002758 Osteoarthritis
HP:0002750 Delayed skeletal maturation
HP:0002970 Genu varum
HP:0000006 Autosomal dominant inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
176 ACAN aggrecan

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024