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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50945369

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owl:Axiom

wdrs:describedby

n6:doid.owl

dc:type

n4:ECO_0007645

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n4:IAO_0000115

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n4:DOID_0111732

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A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/6734674