| Db | Link | Name | Definition | Comment | Is a |
|---|---|---|---|---|---|
| HPO | HP:0001639 | Hypertrophic cardiomyopathy | "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." [PMID:17916581] | — | HP:0001638 |
| HPO | HP:0000238 | Hydrocephalus | "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] | Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. | HP:0002118, HP:0002921 |
| HPO | HP:0000324 | Facial asymmetry | "An abnormal difference between the left and right sides of the face." [HPO:probinson] | — | HP:0001999 |
| HPO | HP:0001882 | Leukopenia | "An abnormal decreased number of leukocytes in the blood." [HPO:probinson] | — | HP:0011893 |
| HPO | HP:0001643 | Patent ductus arteriosus | "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, PMID:20421261] | — | HP:0011603 |
| HPO | HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] | — | HP:0004378 |
| OMIM | OMIM:613951 | FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP | — | — | — |
| OMIM | OMIM:189960 | TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA | — | — | — |