Renal-hepatic-pancreatic dysplasia 2

Preferred Label : Renal-hepatic-pancreatic dysplasia 2;

Symbol : RHPD2;

CISMeF acronym : RHPD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the never in mitosis gene A-related kinase 8 gene (NEK8, 609799.0002);

Prefixed ID : #615415;

Details

Origin ID

615415;

UMLS CUI

C3809434;

DO Cross reference
- renal-hepatic-pancreatic dysplasia [DO Concept]
Genes related to phenotype
- Nima-related kinase 8 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Asplenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Congenital onset [HPO term]
- Cystic renal dysplasia [HPO term]
- Enlarged kidney [HPO term]
- Femoral bowing [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Oligohydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pulmonic stenosis [HPO term]
- Situs inversus totalis [HPO term]
- Stillbirth [HPO term]
- Talipes equinovarus [HPO term]
- Truncus arteriosus [HPO term]
ORDO concept(s)
- Renal-hepatic-pancreatic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients