| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000979 | Purpura | |
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| 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] |
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| HP:0001325 | Hypoglycemic coma | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001531 | Failure to thrive in infancy | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001888 | Lymphopenia | |
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| HP:0001973 | Immune thrombocytopenia | |
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| HP:0001988 | Recurrent hypoglycemic episodes | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002090 | Pneumonia | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002097 | Emphysema | |
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| HP:0002099 | Asthma | "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002121 | Absence seizures | "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002615 | Hypotension | |
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| HP:0002633 | Vasculitis | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002829 | Arthralgia | |
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| HP:0002837 | Bronchitis | |
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| HP:0002902 | Hyponatremia | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0002920 | Decreased serum ACTH | |
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| HP:0003765 | Psoriasis | |
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| HP:0003828 | Variable expressivity | |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0005364 | Severe viral infections, | |
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| HP:0005365 | Absent peripheral blood B cells | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0006783 | Posterior pharyngeal cleft | |
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| HP:0007418 | Alopecia totalis | |
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| HP:0008163 | Plasma cortisol low | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0011108 | Recurrent sinusitis | "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0011734 | Central adrenal insufficiency | "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] |
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| HP:0011735 | Adrenocorticotropin (ACTH) deficient adrenal insufficiency | "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012504 | Abnormal size of pituitary gland | "A deviation from the normal size of the `pituitary gland` (FMA:13889)." [HPO:probinson] |
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| HP:0030349 | Decreased circulating androgen level | "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] |
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| HP:0030353 | Decreased serum insulin-like growth factor 1 | "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] |
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| HP:0030804 | Trachyonychia | "Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix." [] {comment="HPO:probinson", comment="PMID:26273150"} |
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| HP:0100723 | Gastrointestinal stroma tumor | |
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| HP:0100776 | Recurrent pharyngitis | "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] |
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| HP:0100803 | Abnormality of the periungual region | "An abnormality of the region around the nails of the fingers or toes." [HPO:probinson] |
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| HP:0100806 | Sepsis | |
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