Amyloidosis, hereditary systemic 2

Preferred Label : Amyloidosis, hereditary systemic 2;

Symbol : AMYLD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyloidosis, familial renal; Amyloidosis VIII; Ostertag type amyloidosis; Amyloidosis, systemic nonneuropathic; German type amyloidosis; Amyloidosis, familial visceral;

Inheritance : Autosomal dominant;

Prefixed ID : #105200;

Details

Origin ID

105200;

UMLS CUI

C0268389;

Automatic exact mappings (from CISMeF team)
- AApoAI amyloidosis [ORDO Disease]
- AFib amyloidosis [ORDO Disease]
- ALys amyloidosis [ORDO Disease]
- Variant ABeta2M amyloidosis [ORDO Disease]
Currated CISMeF NLP mapping
- Amyloidosis, familial visceral [MeSH concept]
- Familial renal amyloidosis [ICD-11 More detail]
- Familial visceral amyloidosis, Ostertag type (disorder) [SNOMED CT concept]
- Hereditary amyloidosis with primary renal involvement [ORDO Disease]
- amyloidosis, familial visceral [MeSH Supplementary Concept]
- familial visceral amyloidosis [DO Concept]
- familial visceral amyloidosis, ostertag type [SNOMED Notion]
DO Cross reference
- familial visceral amyloidosis [DO Concept]
False automatic mappings
- Amyloidosis, familial visceral [MeSH concept]
- Hereditary amyloidosis with primary renal involvement [ORDO Disease]
Genes related to phenotype
- Fibrinogen, a alpha polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cholestasis [HPO term]
- Edema [HPO term]
- Generalized amyloid deposition [HPO term]
- Hematuria [HPO term]
- Hepatomegaly [HPO term]
- Hypertension [HPO term]
- Nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Skin rash [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Peripheral neuropathy [HPO term]
ORDO concept(s)
- Hereditary amyloidosis with primary renal involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyloidosis, familial visceral [MeSH concept]
- Familial renal amyloidosis [ICD-11 More detail]
- Familial visceral amyloidosis, Ostertag type (disorder) [SNOMED CT concept]
- Hereditary amyloidosis with primary renal involvement [ORDO Disease]
- amyloidosis, familial visceral [MeSH Supplementary Concept]
- familial visceral amyloidosis [DO Concept]
- familial visceral amyloidosis, ostertag type [SNOMED Notion]

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