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
Press Enter · cited answer in seconds
0 sources
Eiken syndrome
Summary
Eiken syndrome is a developmental defect during embryogenesis[1]. It draws 3 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]
Key Facts
- Eiken syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Eiken syndrome's instance of is recorded as rare disease[4].
- Eiken syndrome's instance of is recorded as class of disease[5].
- Eiken syndrome's subclass of is recorded as primary bone dysplasia with defective bone mineralization[6].
- Eiken syndrome's subclass of is recorded as multiple epiphyseal dysplasia and pseudoachondroplasia[7].
- Eiken syndrome's subclass of is recorded as bone development disease[8].
- Eiken syndrome's subclass of is recorded as autosomal recessive disease[9].
- Eiken syndrome's MeSH descriptor ID is recorded as C564010[10].
- Eiken syndrome's OMIM ID is recorded as 600002[11].
- Eiken syndrome's Freebase ID is recorded as /m/0y4xxh_[12].
- Eiken syndrome's KEGG ID is recorded as H00495[13].
- Eiken syndrome's Disease Ontology ID is recorded as DOID:0111732[14].
- Eiken syndrome's Orphanet ID is recorded as 79106[15].
- Eiken syndrome's genetic association is recorded as PTH1R[16].
- Eiken syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79106[17].
- Eiken syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111732[18].
- Eiken syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111732[19].
- Eiken syndrome's UMLS CUI is recorded as C1838779[20].
- Eiken syndrome's Mondo ID is recorded as MONDO_0010803[21].
- Eiken syndrome's SNOMED CT ID is recorded as 720863002[22].
- Eiken syndrome's UniProt disease ID is recorded as DI-01518[23].
Why It Matters
Eiken syndrome draws 3 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #135 of 308).[2]