Spastic paraplegia 9b, autosomal recessive

Preferred Label : Spastic paraplegia 9b, autosomal recessive;

Symbol : SPG9B;

CISMeF acronym : SPG9B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0010);

Prefixed ID : #616586;

Details

Origin ID

616586;

UMLS CUI

C5568980;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 9B [ORDO Disease]
- Autosomal recessive spastic paraplegia type 9B (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 9B [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 9B [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 18 family, member a1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cataract [HPO term]
- Dysarthria [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Progressive [HPO term]
- Pseudobulbar paralysis [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- Tetraplegia [HPO term]
- Tremor [HPO term]
- Urinary retention [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 9B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 9B [ORDO Disease]
- Autosomal recessive spastic paraplegia type 9B (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 9B [DO Concept]

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