C1850140_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C1850140>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

Metadata

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Anon_0

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