Cerebral amyloid angiopathy, itm2b-related, 1

Preferred Label : Cerebral amyloid angiopathy, itm2b-related, 1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, familial british; Cerebral amyloid angiopathy, british type; Presenile dementia with spastic ataxia; FBD;

Inheritance : Autosomal dominant;

Prefixed ID : #176500;

Details

Origin ID

176500;

UMLS CUI

C5190835;

Automatic exact mappings (from CISMeF team)
- amyloid neuropathies, familial [MeSH Descriptor]
Currated CISMeF NLP mapping
- ABri amyloidosis [ICD-11 More detail]
- ABri amyloidosis [ORDO Disease]
- Familial dementia British type (disorder) [SNOMED CT concept]
- Familial dementia, British type [ICD-11 More detail]
- ITM2B-related cerebral amyloid angiopathy 1 [DO Concept]
- familial british dementia [Disease (Nov.)]
DO Cross reference
- ITM2B-related cerebral amyloid angiopathy 1 [DO Concept]
Genes related to phenotype
- Integral membrane protein 2b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral amyloid angiopathy [HPO term]
- Dementia [HPO term]
- Hypertonia [HPO term]
- Progressive neurologic deterioration [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- ABri amyloidosis [ORDO Disease]
- ITM2B amyloidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ABri amyloidosis [ORDO Disease]
- ABri amyloidosis [ICD-11 More detail]
- Familial dementia British type (disorder) [SNOMED CT concept]
- ITM2B-related cerebral amyloid angiopathy 1 [DO Concept]
- familial british dementia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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