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ichthyosis-oral and digital anomalies syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ichthyosis-oral and digital anomalies syndrome
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Accession:EFO:MONDO:0009792 term browser browse the term
Definition:Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
Synonyms:exact_synonym: Clayton Smith-Donnai syndrome;   Orphanet:2272;   http://identifiers.org/medgen/342457;   http://identifiers.org/mesh/C536272;   http://linkedlifedata.com/resource/umls/id/C1850268;   https://omim.org/entry/258840
 related_synonym: ichthyosis tapered fingers midline groove up;   oral and digital anomalies with ichthyosis;   unusual facies, digital abnormalities, and ichthyosis
 alt_id: MONDO:0009792
 xref: GARD:2960;   MEDGEN:342457;   MESH:C536272;   MIM:258840;   ORDO:2272;   UMLS:C1850268

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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            ichthyosis-oral and digital anomalies syndrome 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              epidermal disease 0
                ichthyosis 0
                  inherited ichthyosis 0
                    ichthyosis-oral and digital anomalies syndrome 0
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