Spondyloepiphyseal Dysplasia, Stanescu Type - Ontology Browser

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Term:

Spondyloepiphyseal Dysplasia, Stanescu Type (DOID:9004463)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)

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Spondyloepiphyseal Dysplasia, Stanescu Type

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes. Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. (OMIM)

Synonyms
Exact Synonyms:	SED, STANESCU TYPE ; SEDSTN ; Stanescu type of spondyloepiphyseal dysplasia
Alternate IDs:	RDO:9001575
Replaced By:	DOID:0112281

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