| 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:0000825 | Hyperinsulinemic hypoglycemia | |
Show
|
| HP:0001004 | Lymphedema | |
Show
|
| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001395 | Hepatic fibrosis | |
Show
|
| HP:0001399 | Hepatic failure | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
Show
|
| HP:0001929 | Factor XI deficiency | |
Show
|
| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
Show
|
| HP:0001976 | Antithrombin III deficiency | |
Show
|
| HP:0001977 | Thrombosis | |
Show
|
| HP:0002013 | Vomiting | |
Show
|
| HP:0002014 | Diarrhea | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002243 | Protein-losing enteropathy | |
Show
|
| HP:0002612 | Congenital hepatic fibrosis | |
Show
|
| HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
Show
|
| HP:0003642 | Abnormal isoelectric focusing of serum transferrin (type 1 pattern) | |
Show
|
| HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
Show
|
