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Prefix	IRI
n3	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Subject Item: n5:DOID_0060858
rdf:type: owl:Class
rdfs:subClassOf: n5:DOID_0060388 n5:DOID_225 _:vb50939510
rdfs:label: hypotonia-cystinuria syndrome
wdrs:describedby: n3:doid.owl
obo:id: DOID:0060858
obo:hasDbXref: ORDO:163690 OMIM:606407 ICD10CM:E72.0
obo:hasExactSynonym: cystinuria with mitochondrial disease
obo:hasOBONamespace: disease_ontology
n5:IAO_0000115: A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.