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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
 broad_synonym: NSDHL-RELATED CONDITION
 primary_id: MESH:C562515
 alt_id: MIM:308050;   OMIA:002117
 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 3-beta-hydroxysteroid dehydrogenase NSDHL ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Child syndrome | ClinVar Annotator: match by term: NSDHL-related condition 		OMIM
CTD
ClinVar		 PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 More... NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      CHILD syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              keratosis 190
                ichthyosis 95
                  autosomal recessive congenital ichthyosis 54
                    CHILD syndrome 1
paths to the root