| 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:0000078 | Abnormality of the genital tract | |
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| HP:0000083 | Renal failure | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000153 | Abnormality of the mouth | "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] |
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| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000365 | Hearing loss | |
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| HP:0000366 | Abnormality of the nose | |
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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:0000408 | Hearing loss, sensorineural, progressive | |
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| HP:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000538 | Pseudopapilledema | |
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| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| HP:0000618 | Blindness | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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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:0000979 | Purpura | |
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| HP:0000988 | Skin rash | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001025 | Urticaria | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001249 | Mental retardation | |
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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:0001287 | Meningitis | |
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| HP:0001369 | Arthritis | |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001476 | Delayed closure of the anterior fontanelle | "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001622 | Premature birth | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001872 | Abnormality of thrombocytes | |
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| HP:0001874 | Abnormality of neutrophil | |
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| HP:0001903 | Anemia | |
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| HP:0001917 | Renal amyloidosis | |
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| HP:0001944 | Dehydration | |
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| HP:0001945 | Fever | |
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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:0001959 | Polydipsia | |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002076 | Migraine | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [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:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002633 | Vasculitis | |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002829 | Arthralgia | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0003565 | Elevated erythrocyte sedimentation rate | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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| HP:0004299 | Hernia of the abdominal wall | |
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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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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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:0011107 | Recurrent aphthous stomatitis | "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson] |
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| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [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:0012534 | Dysesthesia | "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100534 | Episcleritis | |
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| HP:0100654 | Retrobulbar optic neuritis | "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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