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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:CHILD syndrome
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Accession:EFO:MONDO:0010621 term browser browse the term
Definition:CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
Synonyms:exact_synonym: CHILD syndrome, X-linked dominant;   child nevus;   congenital hemidysplasia with ichthyosiform nevus and limbs defects
 related_synonym: congenital hemidysplasia with ichthyosiform erythroderma and limb defects;   congenital hemidysplasia with ichthyosiform nevus and limb defects;   ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs;   ichthyosis, child syndrome
 alt_id: MONDO:0010621
 xref: DOID:0111822;   GARD:6039;   ICD9:759.89;   MEDGEN:82697;   MESH:C562515;   MIM:308050;   NANDO:1200629;   NANDO:2200998;   NANDO:2201358;   NORD:1284;   ORDO:139;   SCTID:17608003;   UMLS:C0265267
 see_also: https://rarediseases.info.nih.gov/diseases/6039/child-syndrome" xsd:anyURI {source="GARD:0006039



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary skin disorder 0
              CHILD syndrome 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cancer or benign tumor 0
            neoplastic disease or syndrome 0
              neoplasm 0
                benign neoplasm 0
                  integumentary system benign neoplasm 0
                    benign neoplasm of skin 0
                      melanocytic nevus 0
                        CHILD syndrome 0
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