| 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:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000040 | Enlarged penis | |
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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:0000098 | Increased body height | |
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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:0000141 | Amenorrhea | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| HP:0000276 | Long face | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000293 | Full cheeks | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000445 | Broad nose | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000529 | Progressive visual loss | |
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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:0000664 | Synophrys | "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] |
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| HP:0000687 | Widely spaced teeth | |
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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:0000739 | Anxiety | |
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| HP:0000771 | Gynecomastia | |
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| HP:0000787 | Kidney stones | |
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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:0000830 | Hypopituitarism | "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators] |
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| HP:0000833 | Glucose intolerance | |
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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:0000858 | Menstrual irregularities | |
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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:0000876 | Oligomenorrhea | |
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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:0000956 | Acanthosis nigricans | |
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| HP:0000963 | Thin skin | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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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:0000979 | Purpura | |
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| HP:0000980 | Pallor | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001041 | Facial erythema | |
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| HP:0001058 | Poor wound healing | |
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| HP:0001061 | Acne | |
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| HP:0001065 | Striae distensae | "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] |
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| HP:0001117 | Sudden central visual loss | |
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| HP:0001176 | Large hands | |
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| HP:0001182 | Tapered fingers | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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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:0001345 | Psychotic mentation | |
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| HP:0001386 | Joint swelling | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001575 | Mood changes | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001712 | Left ventricular hypertrophy | |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001869 | Deep plantar creases | |
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| HP:0001948 | Alkalosis | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002013 | Vomiting | |
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| HP:0002076 | Migraine | |
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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:0002615 | Hypotension | |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002808 | Kyphosis | |
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| HP:0002829 | Arthralgia | |
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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:0002953 | Vertebral compression fractures | |
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| HP:0003154 | Elevated plasma ACTH | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003388 | Easy fatigability | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0003859 | Cortical diaphyseal thickening of the upper limbs | |
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| HP:0004099 | Macrodactyly | |
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| HP:0004586 | Biconcave vertebral bodies | |
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| HP:0006191 | Deep palmar creases | "An increased depth of the palmar creases." [HPO:curators] |
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| HP:0006767 | Prolactin-secreting pituitary adenoma | |
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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:0007440 | Generalized hyperpigmentation | |
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| HP:0007942 | Internal ophthalmoplegia | |
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| HP:0008240 | Secondary growth hormone deficiency | |
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| HP:0008245 | Tsh deficient hypothyroidism | |
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| HP:0008388 | Abnormality of the toenails | |
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| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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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:0011760 | Pituitary growth hormone cell adenoma | "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark] |
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| HP:0012041 | Decreased fertility in males | |
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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:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012743 | Abdominal obesity | "Excessive fat around the stomach and abdomen." [HPO:probinson] |
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| HP:0012802 | Broad jaw | "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] |
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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:0030269 | Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} | "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [pmid:18436706] |
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| HP:0030521 | Bitemporal hemianopia | |
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| HP:0040278 | Prolactinoma | "A benign tumor (adenoma) of the pituitary gland" [] |
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| HP:0100021 | Cerebral paralysis | "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] |
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| HP:0100518 | Dysuria | "Painful or difficult `urination` (GO:0060073)." [HPO:probinson] |
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| HP:0100540 | Palpebral edema | |
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| HP:0100607 | Dysmenorrhea | |
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| HP:0100786 | Hypersomnia | |
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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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| HP:0100852 | Abnormal fear/anxiety-related behavior | "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response." [HPO:sdoelken] |
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| HP:0200015 | Symmetric great toe depigmentation | |
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