FRINK Linked Data Fragments server

Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0018825> ?p ?o ?g. }

• MONDO_0018825 IAO_0000115 "PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders." @default.
• MONDO_0018825 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/5588" @default.
• MONDO_0018825 RO_0000053 BFO_0000001 @default.
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• MONDO_0018825 RO_0000053 MONDO_0021135 @default.
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• MONDO_0018825 RO_0000053 MONDO_0021139 @default.
• MONDO_0018825 RO_0000053 MONDO_0021140 @default.
• MONDO_0018825 RO_0000053 PATO_0000001 @default.
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• MONDO_0018825 RO_0002162 COB_0000118 @default.
• MONDO_0018825 RO_0002162 NCBITaxon_1 @default.
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• MONDO_0018825 RO_0002162 NCBITaxon_7776 @default.
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• MONDO_0018825 RO_0002162 NCBITaxon_9606 @default.
• MONDO_0018825 RO_0002162 OBI_0100026 @default.
• MONDO_0018825 RO_0002162 PCO_0000031 @default.
• MONDO_0018825 RO_0002320 BFO_0000001 @default.
• MONDO_0018825 RO_0002320 BFO_0000002 @default.
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• MONDO_0018825 RO_0002320 CARO_0001010 @default.
• MONDO_0018825 RO_0002320 CARO_0010004 @default.
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• MONDO_0018825 RO_0002320 NCBITaxon_1 @default.
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• MONDO_0018825 RO_0002320 NCBITaxon_7776 @default.
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• MONDO_0018825 RO_0002320 NCBITaxon_9347 @default.
• MONDO_0018825 RO_0002320 NCBITaxon_9443 @default.
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• MONDO_0018825 RO_0002320 OBI_0100026 @default.
• MONDO_0018825 RO_0002320 PCO_0000031 @default.
• MONDO_0018825 RO_0002410 BFO_0000001 @default.
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