Spastic paraplegia 29, autosomal dominant

Preferred Label : Spastic paraplegia 29, autosomal dominant;

Symbol : SPG29;

CISMeF acronym : SPG29;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Hyperbilirubinemia, neonatal;

Prefixed ID : %609727;

Details

Origin ID

609727;

UMLS CUI

C1857855;

Automatic exact mappings (from CISMeF team)
- hereditary spastic paraplegia 29 [DO Concept]
- spastic paraplegia 29 (autosomal dominant) [HGNC gene]
- spastic paraplegia 29 (autosomal dominant) [ORDO Gene]
- spastic paraplegia 32 (autosomal recessive) [ORDO Gene]
- spastic paraplegia 32 (autosomal recessive) [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 29 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 29 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 29 (disorder) [SNOMED CT concept]
- Spastic paraplegia 29, autosomal dominant [MeSH concept]
- spastic paraplegia 29, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 29 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Clonus [HPO term]
- Genetic anticipation [HPO term]
- Hiatus hernia [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibratory sensation [HPO term]
- Lower limb spasticity [HPO term]
- Neonatal hyperbilirubinemia [HPO term]
- Nocturia [HPO term]
- Pes cavus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spastic paraplegia [HPO term]
- Upper limb spasticity [HPO term]
- Urinary hesitancy [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 29 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 29 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 29 (disorder) [SNOMED CT concept]
- Spastic paraplegia 29, autosomal dominant [MeSH concept]
- spastic paraplegia 29, autosomal dominant [MeSH Supplementary Concept]

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