<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012084"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
     xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
     xmlns:skos="http://www.w3.org/2004/02/skos/core#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ns4="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#clingen"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://identifiers.org/hgnc/2719 -->

    <Class rdf:about="http://identifiers.org/hgnc/2719">
        <rdfs:label>DDC</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012084 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012084">
        <rdfs:label>aromatic L-amino acid decarboxylase deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017759"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/2719"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9097</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/aromatic_l_amino_acid_decarboxylase_deficiency</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>NANDO:1200988</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000770</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:270.8</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>Aadc deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD10CM:E70.81</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:237922009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537437</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1291564</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>aromatic amino acid decarboxylase deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:608643</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:2010</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>aromatic L-amino acid decarboxylase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:35708</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>DDC deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C142085</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200596</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Dopa decarboxylase deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:220945</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0012084</oboInOwl:id>
        <oboInOwl:hasExactSynonym>AADC deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0090123</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1134258245</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>aromatic L-amino-acid decarboxylase deficiency</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1134258245"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/220945"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537437"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/237922009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1291564"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/E70.81"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0090123"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C142085"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_35708"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/608643"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0012084"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017759 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017759">
        <rdfs:label>disorder of catecholamine synthesis</rdfs:label>
    </Class>
</rdf:RDF>



<!-- Generated by the OWL API (version 3.2.4.1806) http://owlapi.sourceforge.net -->



