Phenotypes associated with the disease thymic-renal-anal-lung dysplasia (OMIM:274265):
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:274265)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: IEA. (OMIM:274265)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:274265)
- Ureteral agenesis (HP:0012300): Failure of the ureter to undergo development. Evidence: TAS. (OMIM:274265)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:274265)
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: IEA. (OMIM:274265)
- Ureteral dysgenesis (HP:0008631): A developmental anomaly of the ureter. Evidence: TAS. (OMIM:274265)
- 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: IEA. (OMIM:274265)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:274265)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. (OMIM:274265)