| 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:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
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| HP:0000132 | Menorrhagia | |
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| HP:0000134 | Hypogonadism, female | "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] |
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| HP:0000140 | Menstrual abnormalities | |
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| HP:0000141 | Amenorrhea | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000375 | Abnormality of cochlea | "An abnormality of the cochlea, which is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain." [HPO:curators] |
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| HP:0000399 | Deafness, sensorineural, prelingual, profound | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000572 | Visual loss | |
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| HP:0000575 | Scotoma | "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] |
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| HP:0000618 | Blindness | |
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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:0000662 | Night blindness | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000787 | Kidney stones | |
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| HP:0000789 | Infertility | |
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| HP:0000802 | Impotence | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000823 | Delayed puberty | |
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| HP:0000837 | Elevated gonadotropins | |
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| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
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| HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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| HP:0000868 | Decreased fertility in females | |
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| HP:0000870 | Hyperprolactinemia | "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [HPO:curators] |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000978 | Ecchymoses | |
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| HP:0000980 | Pallor | |
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| HP:0001061 | Acne | |
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| HP:0001117 | Sudden central visual loss | |
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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: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:0001254 | Lethargy | |
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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:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001698 | Pericardial effusion | |
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| HP:0001751 | Vestibular dysfunction | |
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| HP:0001756 | Vestibular hypofunction | |
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| HP:0001824 | Weight loss | |
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| HP:0001956 | Truncal obesity | "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] |
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| HP:0001962 | Palpitations | |
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| HP:0002013 | Vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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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:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002615 | Hypotension | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002920 | Decreased serum ACTH | |
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| HP:0002925 | Increased serum thyroid-stimulating hormone (TSH) | |
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| HP:0003198 | Myopathy | |
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| HP:0003388 | Easy fatigability | |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0005115 | Supraventricular arrhythmia | |
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| HP:0006897 | Cranial nerve VI palsy | |
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| HP:0007011 | Fourth cranial nerve palsy | |
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| HP:0007302 | Bipolar affective disorder | |
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| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0007730 | Reduced iris pigmentation | |
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| HP:0007942 | Internal ophthalmoplegia | |
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| HP:0008153 | Periodic hypokalemic paresis | |
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| HP:0008209 | Premature ovarian failure | |
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| HP:0008221 | Enlarged adrenal glands | |
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| HP:0008240 | Secondary growth hormone deficiency | |
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| HP:0008245 | Tsh deficient hypothyroidism | |
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| HP:0008247 | Euthyroid hyperthyroxinemia | |
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| HP:0008499 | High-grade hypermetropia | |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
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| HP:0011357 | Abnormality of hair density | "An abnormality of the density of hair growth." [DDD:cmoss] |
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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:0011748 | Adrenocorticotropic hormone deficiency | "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] |
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| HP:0011782 | Thyroid crisis | |
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| HP:0012041 | Decreased fertility in males | |
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| HP:0012157 | Subcortical cerebral atrophy | "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] |
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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:0012246 | Oculomotor nerve palsy | "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] |
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| HP:0012377 | Hemianopsia | "Partial or complete loss of vision in one half of the visual field of one or both eyes." [HPO:probinson] |
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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:0012505 | Enlarged pituitary gland | "An abnormally increased size of the `pituitary gland` (FMA:13889)." [ORCID:0000-0001-5208-3432] |
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| HP:0030016 | Dyspareunia | "Recurrent or persistent genital pain associated with sexual intercourse." [] |
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| HP:0030018 | Decreased female libido | "Dminished sexual desire in female." [] |
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| HP:0030521 | Bitemporal hemianopia | |
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| HP:0030588 | Abnormal visual field test | |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100608 | Metrorrhagia | |
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| HP:0100753 | Schizophrenia | "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] |
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| HP:0100829 | Galactorrhoea | "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken] |
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