FRINK Linked Data Fragments server

Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0018495> ?p ?o ?g. }

• MONDO_0018495 IAO_0000115 "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." @default.
• MONDO_0018495 RO_0000053 BFO_0000001 @default.
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• MONDO_0018495 RO_0000053 MONDO_0021152 @default.
• MONDO_0018495 RO_0000053 PATO_0000001 @default.
• MONDO_0018495 RO_0002162 BFO_0000001 @default.
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• MONDO_0018495 RO_0002162 BFO_0000040 @default.
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• MONDO_0018495 RO_0002162 COB_0000006 @default.
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• MONDO_0018495 RO_0002162 COB_0000118 @default.
• MONDO_0018495 RO_0002162 NCBITaxon_1 @default.
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• MONDO_0018495 RO_0002162 NCBITaxon_33154 @default.
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• MONDO_0018495 RO_0002162 OBI_0100026 @default.
• MONDO_0018495 RO_0002162 PCO_0000031 @default.
• MONDO_0018495 RO_0002320 BFO_0000001 @default.
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• MONDO_0018495 RO_0002320 BFO_0000004 @default.
• MONDO_0018495 RO_0002320 BFO_0000040 @default.
• MONDO_0018495 RO_0002320 CARO_0001010 @default.
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• MONDO_0018495 RO_0002320 COB_0000006 @default.
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• MONDO_0018495 RO_0002320 COB_0000118 @default.
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• MONDO_0018495 RO_0002410 BFO_0000003 @default.

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