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ONTOLOGY REPORT - ANNOTATIONS


Term:CHILD syndrome
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Accession:DOID:0111822 term browser browse the term
Definition:A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28. (DO)
Synonyms:exact_synonym: CHILD nevus;   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects;   congenital hemidysplasia with ichthyosiform nevus and limbs defects;   unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs
 primary_id: MESH:C562515
 alt_id: DOID:9001267;   OMIA:002117;   OMIM:308050
 xref: GARD:6039;   ORDO:139
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CHILD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      CHILD syndrome 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          skin disease 2651
            keratosis 133
              ichthyosis 58
                autosomal recessive congenital ichthyosis 29
                  CHILD syndrome 1
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