| 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:0000091 | Abnormality of the renal tubules | |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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| HP:0000211 | Trismus | "Limitation in the ability to open the mouth." [HPO:curators] |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000230 | Gingivitis | |
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| HP:0000262 | Turricephaly | "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000656 | Ectropion | "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] |
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| HP:0000670 | Carious teeth | |
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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:0000704 | Periodontal disease | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000795 | Abnormality of the urethra | "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:curators] |
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| HP:0000963 | Thin skin | |
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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:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0000987 | Scarring | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001025 | Urticaria | |
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| HP:0001029 | Poikiloderma | |
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| HP:0001030 | Fragile skin | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001056 | Milia | |
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| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001581 | Recurrent skin infections | "Infections of the skin that happen multiple times." [HPO:curators] |
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| HP:0001602 | Laryngeal stenosis | |
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| HP:0001741 | Phimosis | |
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| HP:0001807 | Nail ridging | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001903 | Anemia | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002043 | Esophageal stricture | |
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| HP:0002583 | Severe colitis | |
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| HP:0002745 | Oral leukoplakia | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004378 | Abnormality of the anus | "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0005585 | Spotty hyperpigmentation | |
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| HP:0005590 | Spotty hypopigmentation | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006740 | Transitional cell carcinoma of the bladder | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007488 | Diffuse skin atrophy | |
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| HP:0007561 | Telangiectases in sun-exposed and nonexposed skin | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0008065 | Aplasia/Hypoplasia of the skin | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008388 | Abnormality of the toenails | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0009775 | Amniotic bands | "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strangs." [HPO:curators] |
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| HP:0010044 | Hypoplastic/short 4th metacarpal | |
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| HP:0010047 | Hypoplastic/short 5th metacarpal | |
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| HP:0010296 | Ankyloglossia | "Short or anteriorly attached lingual frenulum associated with limited mobility of the tongue." [pmid:19125428] |
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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:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0011024 | Abnormality of the gastrointestinal tract | "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] |
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| HP:0012227 | Urethral stricture | "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100517 | Neoplasm of the urethra | "The presence of a `neoplasm` (MPATH:218) of the `urethra` (FMA:19667)." [HPO:probinson] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100587 | Abnormality of the preputium | |
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| HP:0100633 | Esophagitis | |
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| HP:0100669 | Abnormal pigmentation of oral cavity | |
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| HP:0100825 | Cheilitis | "Inflammation of the lip." [HPO:sdoelken] |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [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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| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
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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:0430007 | Symblepharon | "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball." [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon] |
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