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Ontology Browser

Term:
Ehlers-Danlos Syndrome, Progeroid Type, 2 (DOID:9002616)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Ehlers-Danlos Syndrome, Progeroid Type, 1 
Ehlers-Danlos Syndrome, Progeroid Type, 2  
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 Synonyms: EDSP2 ;   EDSSPD2 ;   EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
Primary IDs: OMIM:615349
Alternate IDs: RDO:9000910

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