C5190525_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A partial autosomal monosomy with characteristics of a variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C5190525>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

Metadata

Anon_0

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Anon_0

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Anon_1 (more)

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