{"id":"http://purl.bioontology.org/ontology/MESH/D018902","synonym":["Chondrodysplasia Punctatas, Rhizomelic","Chondrodysplasia Punctata, Rhizomelic Form","Punctata, Rhizomelic Chondrodysplasia","Rhizomelic Chondrodysplasia Punctata","Rhizomelic Chondrodysplasia Punctatas","Punctatas, Rhizomelic Chondrodysplasia"],"notation":"D018902","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0282529"],"prefLabel":"Chondrodysplasia Punctata, Rhizomelic","definition":["An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)"],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D018901","http://purl.bioontology.org/ontology/MESH/D002806"],"parents":[{"id":"http://purl.bioontology.org/ontology/MESH/D018901","synonym":["Acidemia, Hyperpipecolic","Adrenoleukodystrophy, Autosomal Neonatal Form","Dysfunctions, Multiple Peroxisomal","Peroxisomal Dysfunction, Single","Neonatal Adrenoleukodystrophy","Peroxisomal Disorder","Single Peroxisomal Dysfunction","Multiple Peroxisomal Dysfunctions","Peroxisomal Dysfunctions, General","Peroxisomal Dysfunctions, Single","Hyperpipecolatemia","Peroxisomal Dysfunctions, Multiple","Dysfunction, General Peroxisomal","Adrenoleukodystrophies, Neonatal","Peroxisomal Dysfunction, Multiple","Dysfunctions, General Peroxisomal","Neonatal Adrenoleukodystrophies","Adrenoleukodystrophy, Neonatal","Peroxisomal Dysfunction, General","Acidemias, Hyperpipecolic","Multiple Peroxisomal Dysfunction","Hyperpipecolic Acidemia","Dysfunctions, Single Peroxisomal","General Peroxisomal Dysfunction","Dysfunction, Single Peroxisomal","Hyperpipecolic Acidemias","General Peroxisomal Dysfunctions","Dysfunction, Multiple Peroxisomal","Adrenoleukodystrophy, Autosomal, Neonatal Form","Single Peroxisomal Dysfunctions"],"notation":"D018901","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0282526","C0751710","C0751708","C0282528","C0282525","C0751709"],"prefLabel":"Peroxisomal Disorders","definition":["A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D008661"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D018901","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018901","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}},{"id":"http://purl.bioontology.org/ontology/MESH/D002806","synonym":["Conradi Hünermann Syndrome","Chondrodysplasia Punctata 2, X Linked Dominant","Conradi-Hunermann Syndrome","Hunermann-Conradi Syndrome","Hunermann Conradi Syndrome","X Linked Dominant Chondrodysplasia Punctata","Conradi-Hünermann-Happle Syndromes","Chondrodysplasia Punctata 2, X-Linked Dominant","Conradi-Hünermann Syndrome","Dysplasia Epiphysialis Punctata","X-Linked Dominant Chondrodysplasia Punctata","Epiphyses, Stippled","X-Linked Chondrodysplasia Punctata 2","Chondrodysplasia Punctata 2, X-Linked","Chondrodysplasia Punctata 2, X Linked","Conradi Hunermann Happle Syndrome","Stippled Epiphyses","Conradi-Hunermann-Happle Syndrome","Chondrodystrophia Calcificans Congenita","Happle Syndrome","Conradi-Hünermann-Happle Syndrome","Conradi Hunermann Syndrome","Conradi-Hunermann-Happle Syndromes","Conradi Hünermann Happle Syndrome","Conradi-Hünermann Syndromes","X Linked Chondrodysplasia Punctata 2"],"notation":"D002806","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0282102","C0008445"],"prefLabel":"Chondrodysplasia Punctata","definition":["A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D010009"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D002806","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD002806","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}],"label":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["Chondrodysplasia Punctatas, Rhizomelic","Chondrodysplasia Punctata, Rhizomelic Form","Punctata, Rhizomelic Chondrodysplasia","Rhizomelic Chondrodysplasia Punctata","Rhizomelic Chondrodysplasia Punctatas","Punctatas, Rhizomelic Chondrodysplasia"],"http://purl.bioontology.org/ontology/MESH/PM":["1996"],"http://purl.bioontology.org/ontology/MESH/HN":["1996"],"http://purl.bioontology.org/ontology/MESH/mapped_from":["http://purl.bioontology.org/ontology/MESH/C537608","http://purl.bioontology.org/ontology/MESH/C537607","http://purl.bioontology.org/ontology/MESH/C531651"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/MESH/TERMUI":["T056336","T056337","T751461"],"http://purl.bioontology.org/ontology/MESH/TH":["NLM (1996)","OMIM (2013)","NLM (2010)","GHR (2014)","ORD (2010)"],"http://purl.bioontology.org/ontology/MESH/MMR":["20150608"],"http://www.w3.org/2004/02/skos/core#notation":["D018902"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/MESH/QB":["http://purl.bioontology.org/ontology/MESH/Q000097","http://purl.bioontology.org/ontology/MESH/Q000178","http://purl.bioontology.org/ontology/MESH/Q000175","http://purl.bioontology.org/ontology/MESH/Q000628","http://purl.bioontology.org/ontology/MESH/Q000276","http://purl.bioontology.org/ontology/MESH/Q000134","http://purl.bioontology.org/ontology/MESH/Q000139","http://purl.bioontology.org/ontology/MESH/Q000266","http://purl.bioontology.org/ontology/MESH/Q000378","http://purl.bioontology.org/ontology/MESH/Q000517","http://purl.bioontology.org/ontology/MESH/Q000662","http://purl.bioontology.org/ontology/MESH/Q000469","http://purl.bioontology.org/ontology/MESH/Q000150","http://purl.bioontology.org/ontology/MESH/Q000821","http://purl.bioontology.org/ontology/MESH/Q000191","http://purl.bioontology.org/ontology/MESH/Q000196","http://purl.bioontology.org/ontology/MESH/Q000473","http://purl.bioontology.org/ontology/MESH/Q000145","http://purl.bioontology.org/ontology/MESH/Q000382","http://purl.bioontology.org/ontology/MESH/Q000451","http://purl.bioontology.org/ontology/MESH/Q000453","http://purl.bioontology.org/ontology/MESH/Q000534","http://purl.bioontology.org/ontology/MESH/Q000532","http://purl.bioontology.org/ontology/MESH/Q000503","http://purl.bioontology.org/ontology/MESH/Q000188","http://purl.bioontology.org/ontology/MESH/Q000235","http://purl.bioontology.org/ontology/MESH/Q000201","http://purl.bioontology.org/ontology/MESH/Q000209","http://purl.bioontology.org/ontology/MESH/Q000208","http://purl.bioontology.org/ontology/MESH/Q000601","http://purl.bioontology.org/ontology/MESH/Q000000981","http://purl.bioontology.org/ontology/MESH/Q000652","http://purl.bioontology.org/ontology/MESH/Q000523","http://purl.bioontology.org/ontology/MESH/Q000401"],"http://purl.bioontology.org/ontology/MESH/DX":["19960101"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0282529"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Chondrodysplasia Punctata, Rhizomelic"],"http://purl.bioontology.org/ontology/MESH/DC":["1"],"http://www.w3.org/2004/02/skos/core#definition":["An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)"],"http://purl.bioontology.org/ontology/MESH/MN":["C05.116.099.708.195.200","C18.452.648.663.265","C16.320.565.663.265"],"http://purl.bioontology.org/ontology/MESH/AN":["a form of osteochondrodysplasia with stippled epiphyses; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES"],"http://purl.bioontology.org/ontology/MESH/AQL":["BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI"],"http://purl.bioontology.org/ontology/MESH/MDA":["19990101"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/MESH/D018901","http://purl.bioontology.org/ontology/MESH/D002806"]},"@id":"http://purl.bioontology.org/ontology/MESH/D018902","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD018902","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fbd5ffec6e8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}