| 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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000388 | Otitis media | |
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| HP:0000524 | Conjunctival telangiectasia | "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators] |
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| HP:0000712 | Emotional lability | |
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| HP:0000958 | Dry skin | |
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| 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] |
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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:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001369 | Arthritis | |
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| HP:0001824 | Weight loss | |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0001999 | Facial dysmorphism | |
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| HP:0002014 | Diarrhea | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002312 | Clumsiness | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002720 | Decreased IgA | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002850 | Decreased IgM | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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| 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] |
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| HP:0004429 | Recurrent viral infections | |
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| HP:0006254 | Elevated alpha-fetoprotein | "An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalaocele." [HPO:curators] |
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| HP:0006530 | Interstitial pulmonary disease | |
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| HP:0006532 | Pneumonia, recurrent episodes | |
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| HP:0007057 | Poor hand-eye coordination | |
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| HP:0007108 | Demyelinating peripheral neuropathy | |
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| HP:0008940 | Generalized lymphadenopathy | |
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| HP:0010677 | Enuresis nocturna | "`Enuresis` (HP:0000805) occuring during sleeping hours." [HPO:sdoelken] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0010997 | Chromosomal breakage induced by ionizing radiation | "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [HPO:sdoelken, pmid:16814619] |
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| HP:0011108 | Recurrent sinusitis | "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0011133 | Increased sensitivity to ionizing radiation | "An abnormally increased sensitivity to the effects of ionizing radiation." [HPO:probinson] |
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| HP:0011342 | Mild global developmental delay | "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0012387 | Bronchitis | "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [HPO:probinson] |
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| HP:0012768 | Neonatal asphyxia | "Respiratory failure in the newborn." [HPO:probinson] |
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| HP:0030746 | Intraventricular hemorrhage | "Bleeding into the ventricles of the brain." [UToronto:chum] |
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| HP:0040189 | Scaling skin | "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." [] |
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