This HTML5 document contains 11 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
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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#

Statements

Subject Item

_:vb50939515

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n3:ECO_0007636 n3:ECO_0007645

owl:annotatedProperty

n3:IAO_0000115

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n3:DOID_0060858

owl:annotatedTarget

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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/16385448 url:https://www.ncbi.nlm.nih.gov/pubmed/11524703 url:https://www.ncbi.nlm.nih.gov/pubmed/18234729 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690