Statements in which the resource exists as a subject.
PredicateObject
rdf:type
calbc:hasCorrelation
skos:exactMatch
skos:definition
MSH: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.,NCI: A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.,JABL: A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures. The fontanelles may remain open until adulthood, but the sutures often close with interposition of wormian bones. Bosses of the frontal, parietal, and occipital regions
skos:inScheme
skos:narrower
skos-xl:prefLabel
skos-xl:altLabel
umls-label:A0039854, umls-label:A0039855, umls-label:A0039856, umls-label:A0039857, umls-label:A0052082, umls-label:A0052085, umls-label:A0052154, umls-label:A0052167, umls-label:A1183784, umls-label:A11935678, umls-label:A11949999, umls-label:A11978639, umls-label:A11993174, umls-label:A16754895, umls-label:A16757160, umls-label:A1703221, umls-label:A1703382, umls-label:A1703383, umls-label:A1703384, umls-label:A1703385, umls-label:A1703386, umls-label:A1703387, umls-label:A1703388, umls-label:A1703483, umls-label:A1703786, umls-label:A1703796, umls-label:A1703801, umls-label:A1703834, umls-label:A1703838, umls-label:A1704341, umls-label:A1704342, umls-label:A17946069, umls-label:A17946070, umls-label:A17970071, umls-label:A17994130, umls-label:A18609252, umls-label:A18609253, umls-label:A18609254, umls-label:A18646412, umls-label:A19578561, umls-label:A19580671, umls-label:A19582829, umls-label:A19582830, umls-label:A19584859, umls-label:A19584860, umls-label:A19584861, umls-label:A19591234, umls-label:A19593369, umls-label:A19593370, umls-label:A20015097, umls-label:A20015098, umls-label:A20018379, umls-label:A8352293
umls:relation
http://linkedlifedata.com/resource/umls/relation/R28416458, http://linkedlifedata.com/resource/umls/relation/R28490308, http://linkedlifedata.com/resource/umls/relation/R28490309, http://linkedlifedata.com/resource/umls/relation/R01046666, http://linkedlifedata.com/resource/umls/relation/R28490310, http://linkedlifedata.com/resource/umls/relation/R28490311, http://linkedlifedata.com/resource/umls/relation/R28490312, http://linkedlifedata.com/resource/umls/relation/R120241735, http://linkedlifedata.com/resource/umls/relation/R120241736, http://linkedlifedata.com/resource/umls/relation/R120241737, http://linkedlifedata.com/resource/umls/relation/R120241738, http://linkedlifedata.com/resource/umls/relation/R120241741, http://linkedlifedata.com/resource/umls/relation/R120241742, http://linkedlifedata.com/resource/umls/relation/R120241743, http://linkedlifedata.com/resource/umls/relation/R120241744, http://linkedlifedata.com/resource/umls/relation/R120241745, http://linkedlifedata.com/resource/umls/relation/R120241755, http://linkedlifedata.com/resource/umls/relation/R120241746, http://linkedlifedata.com/resource/umls/relation/R120241747, http://linkedlifedata.com/resource/umls/relation/R120241748, http://linkedlifedata.com/resource/umls/relation/R120241749, http://linkedlifedata.com/resource/umls/relation/R120241751, http://linkedlifedata.com/resource/umls/relation/R120241752, http://linkedlifedata.com/resource/umls/relation/R120241753, http://linkedlifedata.com/resource/umls/relation/R120241754, http://linkedlifedata.com/resource/umls/relation/R120241758, http://linkedlifedata.com/resource/umls/relation/R120241759, http://linkedlifedata.com/resource/umls/relation/R120241761, http://linkedlifedata.com/resource/umls/relation/R120241762, http://linkedlifedata.com/resource/umls/relation/R120241763, http://linkedlifedata.com/resource/umls/relation/R120241764, http://linkedlifedata.com/resource/umls/relation/R120241765, http://linkedlifedata.com/resource/umls/relation/R120241766, http://linkedlifedata.com/resource/umls/relation/R120241767, http://linkedlifedata.com/resource/umls/relation/R120241768
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