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Ontology Browser

Geleophysic Dysplasia 2 (DOID:9005971)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Geleophysic Dysplasia 1  
Geleophysic Dysplasia 2  
GPHYSD2 is an autosomal dominant form of the disorder caused by heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (OMIM)
Geleophysic Dysplasia 3  

Exact Synonyms: GPHYSD2
Primary IDs: OMIM:614185
Alternate IDs: RDO:9000311

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