ONTOLOGY REPORT - ANNOTATIONS


Term:CHILD Syndrome
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Accession:DOID:9001267 term browser browse the term
Synonyms:exact_synonym: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects;   unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs
 primary_id: MESH:C562515
 alt_id: OMIA:002117;   OMIM:308050;   RDO:0012204
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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 14823
    sensory system disease 4244
      skin disease 2253
        ichthyosis 54
          autosomal recessive congenital ichthyosis 27
            CHILD Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                autosomal recessive congenital ichthyosis 27
                  CHILD Syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.