Phenotypes associated with the disease renal-hepatic-pancreatic dysplasia 2 (OMIM:615415):
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: IEA. (OMIM:615415)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 3/4. (PMID:26862157;PMID:23418306)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: IEA. (OMIM:615415)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:615415)
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: PCS. Frequency: 2/3. (PMID:23418306)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 3/3. (PMID:26862157;PMID:23418306)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/3. (PMID:23418306)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 1/3. (PMID:23418306)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/3. (PMID:23418306)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: PCS. Frequency: 1/3. (PMID:23418306)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. (OMIM:615415)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:615415)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 1/1. (PMID:26862157)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: IEA. (OMIM:615415)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 3/3. (PMID:23418306)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 1/3. (PMID:23418306)
- Cystic renal dysplasia (HP:0000800). Evidence: PCS. Frequency: 3/4. (PMID:26862157;PMID:23418306)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: PCS. Frequency: 2/2. (PMID:26862157;PMID:23418306)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:23418306)
- Malformation of the hepatic ductal plate (HP:0006563). Evidence: PCS. Frequency: 2/2. (PMID:23418306)
- Hepatic cysts (HP:0001407). Evidence: PCS. Frequency: 2/3. (PMID:23418306)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: IEA. (OMIM:615415)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 2/3. (PMID:23418306)