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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:Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
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Accession:DOID:9006328 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. EDSSPD2 is caused by compound heterozygous or homozygous mutation in the B3GALT6 gene on chromosome 1p36. (OMIM)
Synonyms:exact_synonym: Ehlers-Danlos Syndrome, Progeroid Type, 2;   SCD-EDS;   SCDEDS
 alt_id: DOID:9002616;   OMIM:612350;   RDO:9000910
 replaced_by: DOID:0080739
For additional species annotation, visit the Alliance of Genome Resources.


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