| 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:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
Show
|
| HP:0000206 | Glossitis | "Inflammation of the tongue." [HPO:sdoelken] |
Show
|
| HP:0000221 | Furrowed tongue | "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] |
Show
|
| HP:0000224 | Decreased taste sensation | |
Show
|
| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
Show
|
| HP:0000534 | Abnormality of the eyebrow | "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] |
Show
|
| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
Show
|
| HP:0000712 | Emotional lability | |
Show
|
| HP:0000737 | Irritability | |
Show
|
| HP:0000958 | Dry skin | |
Show
|
| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001254 | Lethargy | |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001807 | Nail ridging | |
Show
|
| HP:0001818 | Paronychia | "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:curators] |
Show
|
| HP:0001824 | Weight loss | |
Show
|
| HP:0002014 | Diarrhea | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002028 | Chronic diarrhea | |
Show
|
| HP:0002039 | Anorexia | |
Show
|
| HP:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002293 | Alopecia of scalp | |
Show
|
| HP:0003282 | Low alkaline phosphatase | "Abnormally reduced serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
Show
|
| HP:0003593 | Early onset | |
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:0004396 | Poor appetite | |
Show
|
| HP:0005401 | Frequent candida infections | |
Show
|
| HP:0005435 | Impaired T cell function | |
Show
|
| HP:0008066 | Abnormal blistering of the skin | |
Show
|
| HP:0008230 | Decreased testosterone in males | |
Show
|
| HP:0008402 | Longitudinally grooved fingernails | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
Show
|
| HP:0100825 | Cheilitis | "Inflammation of the lip." [HPO:sdoelken] |
Show
|
| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
Show
|
| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
Show
|
| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
Show
|
