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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 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
OMIM
ClinVar
CTD
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 16096
    syndrome 6993
      CHILD syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          skin disease 2751
            keratosis 185
              ichthyosis 113
                autosomal recessive congenital ichthyosis 29
                  CHILD syndrome 1
paths to the root

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