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RGD uses the Human Disease Ontology (DO, 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 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:308050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Child syndrome
PMID:10710235, PMID:11907515, PMID:12966526, PMID:18414213, PMID:25526675, PMID:28492532 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      CHILD syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            keratosis 187
              ichthyosis 114
                autosomal recessive congenital ichthyosis 29
                  CHILD syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.