| 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:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
Show
|
| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
Show
|
| HP:0000403 | Recurrent otitis media | |
Show
|
| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
Show
|
| HP:0002159 | Heparan sulfate excretion in urine | |
Show
|
| HP:0003170 | Abnormality of the acetabulum | "An abnormality of the acetabulum, which together with the head of the femur forms the hip joint." [HPO:curators] |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0012069 | Keratan sulfate excretion in urine | "An `increased concentration` (PATO:0001162) of `keratan sulfate` (CHEBI:60924) in the `urine` (FMA:12274)." [HPO:probinson] |
Show
|
