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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the NSDHL gene 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: OMIA:002117;   OMIM:308050
 xref: GARD:6039;   ORDO:139


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CHILD syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Child syndrome		 OMIM
CTD
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      CHILD syndrome 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              keratosis 184
                ichthyosis 90
                  autosomal recessive congenital ichthyosis 51
                    CHILD syndrome 1
paths to the root