| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000027 | Azoospermia | |
Show
|
| HP:0000798 | Oligospermia | |
Show
|
| HP:0000819 | Diabetes mellitus | |
Show
|
| HP:0000837 | Elevated gonadotropins | |
Show
|
| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001648 | Cor pulmonale | |
Show
|
| HP:0001738 | Exocrine pancreatic insufficiency | |
Show
|
| HP:0001944 | Dehydration | |
Show
|
| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002035 | Rectal prolapse | |
Show
|
| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
Show
|
| HP:0002110 | Bronchiectasis | |
Show
|
| HP:0002150 | Hypercalciuria | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002206 | Pulmonary fibrosis | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002613 | Biliary cirrhosis | |
Show
|
| HP:0002721 | Immunodeficiency | |
Show
|
| HP:0003251 | Male infertility | |
Show
|
| HP:0004313 | Reduced immunoglobulin levels | |
Show
|
| HP:0004401 | Meconium ileus | |
Show
|
| HP:0005213 | Pancreatic calcification | |
Show
|
| HP:0006528 | Chronic lung disease | |
Show
|
| HP:0006532 | Pneumonia, recurrent episodes | |
Show
|
| HP:0006538 | Bronchopulmonary infection | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] |
Show
|
| HP:0011961 | Non-obstructive azoospermia | "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] |
Show
|
| HP:0011962 | Obstructive azoospermia | "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] |
Show
|
| HP:0012210 | Abnormal renal morphology | "Any structural anomaly of the `kidney` (FMA:7203)." [HPO:probinson] |
Show
|
| HP:0012236 | Elevated sweat chloride | "An increased concentration of chloride in the sweat." [HPO:probinson] |
Show
|
| HP:0012379 | Abnormal enzyme/coenzyme activity | "An altered ability of any enzyme or their cofactors to act as catalysts." [HPO:probinson, MP:0005584] |
Show
|
| HP:0012873 | Absent vas deferens | "Aplasia (congenital absence) of the vas deferens." [HPO:probinson] |
Show
|
| HP:0030247 | Splanchnic vein thrombosis | "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] |
Show
|
| HP:0100027 | Recurrent pancreatitis | "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson] |
Show
|
