PMC:4574214 / 1184-1625 JSONTXT

{"project":"Biotea","denotations":[{"id":"T10","span":{"begin":56,"end":65},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T11","span":{"begin":305,"end":314},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T18","span":{"begin":69,"end":75},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520"},{"id":"T19","span":{"begin":213,"end":219},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102520"},{"id":"T25","span":{"begin":69,"end":75},"obj":"http://purl.obolibrary.org/obo/PR_000004263"},{"id":"T26","span":{"begin":213,"end":219},"obj":"http://purl.obolibrary.org/obo/PR_000004263"},{"id":"T32","span":{"begin":69,"end":75},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522"},{"id":"T33","span":{"begin":213,"end":219},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C102522"},{"id":"T35","span":{"begin":80,"end":95},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/47429007"},{"id":"T36","span":{"begin":224,"end":239},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/47429007"},{"id":"T38","span":{"begin":80,"end":90},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281"},{"id":"T39","span":{"begin":224,"end":234},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25281"},{"id":"T43","span":{"begin":240,"end":244},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25594"},{"id":"T50","span":{"begin":106,"end":119},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686"},{"id":"T51","span":{"begin":254,"end":267},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686"},{"id":"T52","span":{"begin":345,"end":358},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686"},{"id":"T53","span":{"begin":401,"end":414},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118686"},{"id":"T60","span":{"begin":106,"end":119},"obj":"http://purl.obolibrary.org/obo/SYMP_0000568"},{"id":"T61","span":{"begin":254,"end":267},"obj":"http://purl.obolibrary.org/obo/SYMP_0000568"},{"id":"T62","span":{"begin":345,"end":358},"obj":"http://purl.obolibrary.org/obo/SYMP_0000568"},{"id":"T63","span":{"begin":401,"end":414},"obj":"http://purl.obolibrary.org/obo/SYMP_0000568"},{"id":"T70","span":{"begin":106,"end":119},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000145"},{"id":"T71","span":{"begin":254,"end":267},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000145"},{"id":"T72","span":{"begin":345,"end":358},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000145"},{"id":"T73","span":{"begin":401,"end":414},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000145"},{"id":"T80","span":{"begin":106,"end":119},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745"},{"id":"T81","span":{"begin":254,"end":267},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745"},{"id":"T82","span":{"begin":345,"end":358},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745"},{"id":"T83","span":{"begin":401,"end":414},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C55745"},{"id":"T90","span":{"begin":106,"end":119},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10040600"},{"id":"T91","span":{"begin":254,"end":267},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10040600"},{"id":"T92","span":{"begin":345,"end":358},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10040600"},{"id":"T93","span":{"begin":401,"end":414},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10040600"},{"id":"T100","span":{"begin":106,"end":111},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939"},{"id":"T101","span":{"begin":254,"end":259},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939"},{"id":"T102","span":{"begin":345,"end":350},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939"},{"id":"T103","span":{"begin":401,"end":406},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73939"},{"id":"T110","span":{"begin":106,"end":111},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249"},{"id":"T111","span":{"begin":254,"end":259},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249"},{"id":"T112","span":{"begin":345,"end":350},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249"},{"id":"T113","span":{"begin":401,"end":406},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25249"},{"id":"T120","span":{"begin":106,"end":111},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU003639"},{"id":"T121","span":{"begin":254,"end":259},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU003639"},{"id":"T122","span":{"begin":345,"end":350},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU003639"},{"id":"T123","span":{"begin":401,"end":406},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU003639"},{"id":"T130","span":{"begin":106,"end":111},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/367450005"},{"id":"T131","span":{"begin":254,"end":259},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/367450005"},{"id":"T132","span":{"begin":345,"end":350},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/367450005"},{"id":"T133","span":{"begin":401,"end":406},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/367450005"},{"id":"T140","span":{"begin":112,"end":119},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488"},{"id":"T141","span":{"begin":260,"end":267},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488"},{"id":"T142","span":{"begin":351,"end":358},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488"},{"id":"T143","span":{"begin":407,"end":414},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94488"},{"id":"T191","span":{"begin":187,"end":191},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634"},{"id":"T194","span":{"begin":187,"end":191},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954"},{"id":"T197","span":{"begin":187,"end":191},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/89292003"},{"id":"T214","span":{"begin":318,"end":323},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612"},{"id":"T216","span":{"begin":318,"end":323},"obj":"http://purl.bioontology.org/ontology/MESH/D005796"},{"id":"T219","span":{"begin":274,"end":279},"obj":"http://purl.obolibrary.org/obo/OBI_0000073"},{"id":"T222","span":{"begin":274,"end":279},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/224699009"},{"id":"T225","span":{"begin":274,"end":279},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45319"},{"id":"T228","span":{"begin":274,"end":279},"obj":"http://purl.obolibrary.org/obo/OBI_0000066"},{"id":"T231","span":{"begin":274,"end":279},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63537"},{"id":"T234","span":{"begin":274,"end":279},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15206"},{"id":"T237","span":{"begin":274,"end":279},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63536"},{"id":"T311","span":{"begin":143,"end":151},"obj":"http://purl.bioontology.org/ontology/MESH/D013577"},{"id":"T314","span":{"begin":143,"end":151},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193"},{"id":"T339","span":{"begin":130,"end":151},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/10007009"},{"id":"T341","span":{"begin":130,"end":151},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35321"},{"id":"T343","span":{"begin":130,"end":151},"obj":"http://purl.bioontology.org/ontology/MESH/C536436"},{"id":"T358","span":{"begin":120,"end":129},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/55919000"},{"id":"T359","span":{"begin":0,"end":10},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C54033"},{"id":"T360","span":{"begin":0,"end":10},"obj":"http://purl.obolibrary.org/obo/IAO_0000035"},{"id":"T361","span":{"begin":156,"end":179},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU035437"},{"id":"T362","span":{"begin":156,"end":179},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10067989"},{"id":"T363","span":{"begin":156,"end":179},"obj":"http://purl.bioontology.org/ontology/MESH/D008607"},{"id":"T364","span":{"begin":156,"end":179},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97250"},{"id":"T365","span":{"begin":169,"end":179},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10013050"},{"id":"T366","span":{"begin":169,"end":179},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21007"},{"id":"T367","span":{"begin":169,"end":179},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/21134002"},{"id":"T368","span":{"begin":387,"end":397},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61412"},{"id":"T369","span":{"begin":422,"end":440},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18241"},{"id":"T370","span":{"begin":422,"end":429},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C115727"},{"id":"T371","span":{"begin":422,"end":429},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63764"},{"id":"T372","span":{"begin":430,"end":440},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/385436007"},{"id":"T373","span":{"begin":430,"end":440},"obj":"http://purl.obolibrary.org/obo/OBI_0000181"},{"id":"T374","span":{"begin":430,"end":440},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17005"},{"id":"T375","span":{"begin":430,"end":440},"obj":"http://purl.bioontology.org/ontology/MESH/D011153"}],"namespaces":[{"prefix":"omim","uri":"http://purl.bioontology.org/ontology/OMIM/"},{"prefix":"pr","uri":"http://purl.obolibrary.org/obo/PR_"}],"text":"Conclusion\nThese results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population."}