| 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: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] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000750 | Impaired language development | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0001047 | Atopic dermatitis | |
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| HP:0001249 | Mental retardation | |
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| 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] |
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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:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0002090 | Pneumonia | |
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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:0002138 | Subarachnoid hemorrhage | |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002841 | Fungal infections, recurrent | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0003212 | Increased IgE level | "An abnormally increased level of immunoglobulin E in blood." [HPO:probinson] |
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| HP:0003593 | Early onset | |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0005318 | Cerebral vasculitis | |
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| HP:0005364 | Severe viral infections, | |
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| HP:0005401 | Frequent candida infections | |
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| HP:0005403 | Reduced number of T cells | |
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| HP:0005406 | Recurrent bacterial skin infections | |
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| HP:0005425 | Recurrent sinopulmonary infections | |
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| HP:0006763 | Anal canal squamous carcinoma | |
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| HP:0010976 | Reduction in B cell number | "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] |
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| HP:0011108 | Recurrent sinusitis | "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0012203 | Onychomycosis | "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson] |
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| HP:0030417 | Squamous cell carcinoma of the vulva | "A cancer that originates in the sqamous cells that line the surface of the vulva." [HPO:probinson, pmid:25848321] |
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| 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] |
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| HP:0200043 | verrucae | "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER] |
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