| 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:0000083 | Renal failure | |
Show
|
| HP:0000103 | Polyuria | |
Show
|
| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
Show
|
| HP:0000121 | Nephrocalcinosis | |
Show
|
| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
Show
|
| HP:0000212 | Gingival hyperplasia | |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
Show
|
| HP:0000696 | Delayed eruption of secondary teeth | |
Show
|
| HP:0000705 | Amelogenesis imperfecta | |
Show
|
| HP:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001482 | Subcutaneous nodules | |
Show
|
| HP:0001548 | Overgrowth | |
Show
|
| HP:0003771 | Pulp stones | |
Show
|
| HP:0004727 | impaired renal concentrating ability | |
Show
|
| HP:0006286 | Yellow-brown discoloration of the teeth | |
Show
|
| HP:0006302 | Dagger-shaped pulp calcifications | |
Show
|
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
Show
|
