Phenotypes associated with the disease Hirschsprung disease-nail hypoplasia-dysmorphism syndrome (OMIM:235760, an entry in Online Mendelian Inheritance in Man):
- Small nail (HP:0001792, a Human Phenotype Ontology term): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:235760)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:235760)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:235760)
- Aganglionic megacolon (HP:0002251, a Human Phenotype Ontology term): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:235760)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:235760)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:235760)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:235760)