| 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:0000124 | Renal tubular dysfunction | |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001941 | Acidosis | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
Show
|
| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
Show
|
| HP:0002900 | Hypokalemia | |
Show
|
| HP:0002909 | Generalized aminoaciduria | |
Show
|
| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
Show
|
| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
Show
|
| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
Show
|
| HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
Show
|
| HP:0003537 | Hypouricemia | "An abnormally low level of uric acid in the blood." [HPO:curators] |
Show
|
| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
Show
|
| HP:0004396 | Poor appetite | |
Show
|
| HP:0004915 | impaired galactose metabolism | |
Show
|
| HP:0012468 | Chronic acidosis | "Longstanding abnormal acid accumulation or depletion of base." [ORCID:0000-0001-5208-3432] |
Show
|
