Cirrhosis, familial

Preferred Label : Cirrhosis, familial;

CISMeF acronym : ETIC; ICC; ICT;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cirrhosis, familial, with pulmonary hypertension; Indian childhood cirrhosis; Sen syndrome; Copper-overload cirrhosis; Endemic tyrolean infantile cirrhosis; Copper toxicosis, idiopathic; Cirrhosis, cryptogenic; Cirrhosis, noncryptogenic, susceptibility to; ICC; ETIC; ICT;

Inheritance : Autosomal recessive cases, probably heterogeneous;

Prefixed ID : #215600;

Details

Origin ID

215600;

UMLS CUI

C1861556;

Automatic exact mappings (from CISMeF team)
- Cardiothoracic ratio [MedDRA Preferred Term]
- Case Comprehensive Cancer Center [NCIt concept]
- Chlorpropamide-Alcohol flushing [MeSH Supplementary Concept]
- Copper-Overload cirrhosis [MeSH concept]
- Copper-Overload cirrhosis [MeSH Supplementary Concept]
- Cryptogenic Cirrhosis [NCIt concept]
- Cryptogenic cirrhosis [PASCAL descriptor]
- Cryptogenic cirrhosis [MedDRA Preferred Term]
- Cryptogenic cirrhosis (disorder) [SNOMED CT concept]
- ICT [HPMULTI term]
- ICT [IUPAC Term]
- Idiopathic copper-associated cirrhosis [ORDO Disease]
- Immunocytochemistry [NCIt concept]
- Indian childhood cirrhosis (disorder) [SNOMED CT concept]
- Inecalcitol [NCIt concept]
- Inferential Current Treatment [NCIt concept]
- Inflammatory Collateral Cyst [NCIt concept]
- Insertion of pleural tube drain (procedure) [SNOMED CT concept]
- Intrahepatic Cholangiocarcinoma [NCIt concept]
- Unspecified jaundice [ICD-11 Subcategory]
- Whole-Body irradiation [MeSH Descriptor]
- calcium channel blockers [MeSH Descriptor]
- cirrhosis, cryptogenic [MeSH concept]
- cirrhosis, cryptogenic [MeSH Supplementary Concept]
- cirrhosis, familial [MeSH concept]
- cirrhosis, familial [MeSH Supplementary Concept]
- cirrhosis, familial, with pulmonary hypertension [MeSH concept]
- cirrhosis, familial, with pulmonary hypertension [MeSH Supplementary Concept]
- congestive heart failure [MeSH concept]
- copper toxicosis, idiopathic [MeSH concept]
- copper toxicosis, idiopathic [MeSH Supplementary Concept]
- cryptogenic cirrhosis [SNOMED Notion]
- endemic tyrolean infantile cirrhosis [MeSH concept]
- heart failure [MeSH Descriptor]
- indian childhood cirrhosis [SNOMED Notion]
- ischemic attack, transient [MeSH Descriptor]
- jaundice, nos [SNOMED Notion]
Genes related to phenotype
- Keratin 18, type I [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Esophageal varix [HPO term]
- Fever [HPO term]
- Hypertension [HPO term]
- Increased level of L-fucose in urine [HPO term]
- Increased level of propylene glycol in blood [HPO term]
- Jaundice [HPO term]
- Lethargy [HPO term]
- Micronodular cirrhosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
ORDO concept(s)
- Idiopathic copper-associated cirrhosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cirrhosis, familial [MeSH Supplementary Concept]
- cirrhosis, familial [MeSH concept]

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