Cystinosis

    flowchart
    AA["Associated Authors (0)"]
    C[Cystinosis]
    BC["Broader Concepts (1)"]
    NC["Narrower Concepts (0)"]
    C== skos:broader ==>BC
    NC== skos:broader ==>C
    AA== dcterms:relation ==>C
    click BC "#broader-concepts"
    click NC "#narrower-concepts"
    click AA "#associated-authors"

    NI["add incoming edge"]
    NO["add outgoing edge"]
    NI-- ? -->C
    C-- ? -->NO
    click NI "#add-incoming-edge"
    click NO "#add-outgoing-edge"
    style NI stroke-width:2px,stroke-dasharray: 5 5
    style NO stroke-width:2px,stroke-dasharray: 5 5
Graph neighborhood for 'Cystinosis'. Click aggregate nodes to navigate.
Wikidata
https://www.wikidata.org/wiki/Q1149042
OpenAlex ID
https://openalex.org/C2778518273 (API record)
OpenAlex Description
A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and has material basis in mutations in the CTNS gene, located on chromosome 17.
OpenAlex Level [?]
5

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