Cerebral amyloid angiopathy, itm2b-related, 2

Preferred Label : Cerebral amyloid angiopathy, itm2b-related, 2;

CISMeF acronym : FDD; HOOE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Heredopathia ophthalmootoencephalica; HOOE; Dementia, familial danish; FDD; Familial danish dementia; Cerebellar ataxia, cataract, deafness, and dementia or psychosis;

Inheritance : Autosomal dominant;

Prefixed ID : #117300;

Détails

Origin ID

117300;

UMLS CUI

C1861735;

Currated CISMeF NLP mapping
- ADan amyloidosis [ICD-11 More detail]
- ADan amyloidosis [ORDO Disease]
- Dementia, familial Danish [MeSH concept]
- Familial dementia Danish type (disorder) [SNOMED CT concept]
- Familial dementia, Danish type [ICD-11 More detail]
- ITM2B-related cerebral amyloid angiopathy 2 [DO Concept]
- dementia, familial danish [MeSH Supplementary Concept]
DO Cross reference
- ITM2B-related cerebral amyloid angiopathy 2 [DO Concept]
Genes related to phenotype
- Integral membrane protein 2b [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral amyloid angiopathy [HPO term]
- Dementia [HPO term]
- Hearing impairment [HPO term]
- Intention tremor [HPO term]
- Neurofibrillary tangles [HPO term]
- Posterior polar cataract [HPO term]
- Psychosis [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- ADan amyloidosis [ORDO Disease]
- ITM2B amyloidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADan amyloidosis [ORDO Disease]
- ADan amyloidosis [ICD-11 More detail]
- Dementia, familial Danish [MeSH concept]
- Familial dementia Danish type (disorder) [SNOMED CT concept]
- ITM2B-related cerebral amyloid angiopathy 2 [DO Concept]
- dementia, familial danish [MeSH Supplementary Concept]

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