Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Eiken syndrome
Summary
- Synonym
-
- Eiken skeletal dysplasia
- bone modeling defect of hands and feet
- Definition
- A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
- Super Class
- autosomal recessive disease bone development disease
External Links
- Disease Ontology
- DOID:0111732
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
