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dermochondrocorneal dystrophy - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:dermochondrocorneal dystrophy
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Accession:EFO:MONDO:0009094 term browser browse the term
Definition:Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.
Synonyms:exact_synonym: FranC'ois syndrome;   François syndrome;   Orphanet:79149;   http://identifiers.org/medgen/98151;   http://identifiers.org/mesh/C535375;   http://identifiers.org/snomedct/254150007;   http://linkedlifedata.com/resource/umls/id/C0432288;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1305138145;   https://omim.org/entry/221800
 related_synonym: DCCD;   Dermochondrocorneal dystrophy of François;   Francois syndrome
 alt_id: MONDO:0009094
 xref: GARD:1815;   ICD9:379.99;   MEDGEN:98151;   MESH:C535375;   MIM:221800;   ORDO:79149;   SCTID:254150007;   UMLS:C0432288;   icd11.foundation:1305138145

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            dermochondrocorneal dystrophy 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              dermis disorder 0
                dermochondrocorneal dystrophy 0
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