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spastic paraplegia-precocious puberty syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008443

Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. [ Orphanet:2826 ]

Term info

database cross reference
  • MESH:C536874 (Orphanet:2826/e)
  • OMIM:182820 (Orphanet:2826/e)
  • UMLS:C1866850 (Orphanet:2826/e)
  • Orphanet:2826 (OMIM:182820)
  • GARD:0004918 (MONDO:equivalentTo)
Subsets

ordo_disease

A synonym that is historic and discouraged
familial spastic paraplegia, mental retardation, and precocious puberty [ GARD:0004918 ]

definition

Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.

exactMatch

https://omim.org/entry/182820, http://purl.obolibrary.org/obo/Orphanet_2826, http://identifiers.org/mesh/C536874, http://linkedlifedata.com/resource/umls/id/C1866850

has related synonym

spastic paraplegia with precocious puberty, familial spastic paraplegia, mental retardation, and precocious puberty, familial spastic paraplegia, intellectual disability, and precocious puberty, precocious puberty with spastic paraplegia

id

MONDO:0008443