Renal-hepatic-pancreatic dysplasia 1

Preferred Label : Renal-hepatic-pancreatic dysplasia 1;

Symbol : RHPD1;

CISMeF acronym : RHPD; RHPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RHPD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nephrocystin 3 gene (NPHP3, 608002.0004);

Prefixed ID : #208540;

Details

Origin ID

208540;

UMLS CUI

C3715199;

Currated CISMeF NLP mapping
- Renal tubular acidosis - deafness [ICD-11 More detail]
- Renal tubular acidosis with progressive nerve deafness (disorder) [SNOMED CT concept]
- Renal-Hepatic-Pancreatic dysplasia [MeSH concept]
- Renal-Hepatic-Pancreatic dysplasia [MeSH Supplementary Concept]
- Renal-hepatic-pancreatic dysplasia [ORDO Disease]
DO Cross reference
- renal-hepatic-pancreatic dysplasia [DO Concept]
Genes related to phenotype
- Nephrocystin 3 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Asplenia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Biliary cirrhosis [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Dandy-Walker malformation [HPO term]
- Enlarged kidney [HPO term]
- Hepatic cysts [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Intestinal malrotation [HPO term]
- Oligohydramnios [HPO term]
- Pancreatic cysts [HPO term]
- Pancreatic fibrosis [HPO term]
- Patent ductus arteriosus [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polysplenia [HPO term]
- Potter facies [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal dysplasia [HPO term]
- Renal insufficiency [HPO term]
- Ureteral atresia [HPO term]
ORDO concept(s)
- Renal-hepatic-pancreatic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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