Eiken syndrome
a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family
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Eiken syndrome
Summary
Eiken syndrome is a developmental defect during embryogenesis[1].
Key Facts
- Eiken syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- Eiken syndrome's instance of is recorded as rare disease[3].
- Eiken syndrome's instance of is recorded as class of disease[4].
- Eiken syndrome is a type of primary bone dysplasia with defective bone mineralization[5].
- Eiken syndrome is a type of multiple epiphyseal dysplasia and pseudoachondroplasia[6].
- Eiken syndrome is a type of bone development disease[7].
- Eiken syndrome is a type of autosomal recessive disease[8].
- Eiken syndrome's genetic association is recorded as PTH1R[9].
- Eiken syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79106[10].
- Eiken syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111732[11].
- Eiken syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111732[12].