{"definition":"A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.","identifier":"0110974","name":"brachydactyly type A1B","prefix":"doid","providers":{"biolookup":"http://biolookup.io/doid:0110974","bioportal":"https://bioportal.bioontology.org/ontologies/DOID/?p=classes&conceptid=http://purl.obolibrary.org/obo/DOID_0110974","bioregistry":"https://bioregistry.io/doid:0110974","default":"https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:0110974","hdo":"http://disease-ontology.org/term/DOID:0110974","miriam":"https://identifiers.org/DOID:0110974","n2t":"https://n2t.net/doid:0110974","obofoundry":"http://purl.obolibrary.org/obo/DOID_0110974","ols":"https://www.ebi.ac.uk/ols/ontologies/doid/terms?iri=http://purl.obolibrary.org/obo/DOID_0110974"},"query":"doid:0110974","relations":[{"relation_identifier":"subClassOf","relation_prefix":"rdfs","target_identifier":"0110964","target_prefix":"doid"}],"success":true,"synonyms":["BDA1B"],"xrefs":[{"provenance":"doid","xref_identifier":"607004","xref_prefix":"omim"}]}