{'id': 'HP_0001062', 'url': 'http://purl.obolibrary.org/obo/HP_0001062', 'lbl': 'Atypical nevus', 'desc': 'label: Atypical nevus\ndefinition : A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.\nsynonyms :Atypical mole; Dysplastic Nevus\n'}


{'id': 'HP_0001063', 'url': 'http://purl.obolibrary.org/obo/HP_0001063', 'lbl': 'Acrocyanosis', 'desc': 'label: Acrocyanosis\ndefinition : Bluish discoloration of the skin of the hands or feet.\nsynonyms :Persistent blue color of hands or feet; Persistent blue colour of hands or feet\n'}


{'id': 'HP_0001065', 'url': 'http://purl.obolibrary.org/obo/HP_0001065', 'lbl': 'Striae distensae', 'desc': 'label: Striae distensae\ndefinition : 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.\nsynonyms :Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae\n'}


{'id': 'HP_0001067', 'url': 'http://purl.obolibrary.org/obo/HP_0001067', 'lbl': 'Neurofibroma', 'desc': 'label: Neurofibroma\ndefinition : A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.\nsynonyms :Neurofibromata; Neurofibromatosis; multiple neurofibromas\n'}


{'id': 'HP_0001069', 'url': 'http://purl.obolibrary.org/obo/HP_0001069', 'lbl': 'Episodic hyperhidrosis', 'desc': 'label: Episodic hyperhidrosis\ndefinition : Intermittent episodes of abnormally increased perspiration.\nsynonyms :Hyperhidrosis, episodic; Sporadic excessive sweating\n'}


{'id': 'HP_0001070', 'url': 'http://purl.obolibrary.org/obo/HP_0001070', 'lbl': 'Mottled pigmentation', 'desc': 'label: Mottled pigmentation\ndefinition : Patchy and irregular skin pigmentation.\nsynonyms :Mottled skin coloring; Mottled skin colouring; Stippled pigmentation\n'}


{'id': 'HP_0001071', 'url': 'http://purl.obolibrary.org/obo/HP_0001071', 'lbl': 'Angiokeratoma corporis diffusum', 'desc': 'label: Angiokeratoma corporis diffusum\ndefinition : Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.\nsynonyms :Fabry syndrome\n'}


{'id': 'HP_0001072', 'url': 'http://purl.obolibrary.org/obo/HP_0001072', 'lbl': 'Thickened skin', 'desc': 'label: Thickened skin\ndefinition : Laminar thickening of skin.\nsynonyms :Pachydermia; Thick skin; Thickened skin; Diffusely thickened skin\n'}


{'id': 'HP_0001073', 'url': 'http://purl.obolibrary.org/obo/HP_0001073', 'lbl': 'Cigarette-paper scars', 'desc': 'label: Cigarette-paper scars\ndefinition : Thin (atrophic) and wide scars.\nsynonyms :Cigarette paper scarring; Cigarette-paper scars\n'}


{'id': 'HP_0001074', 'url': 'http://purl.obolibrary.org/obo/HP_0001074', 'lbl': 'Atypical nevi in non-sun exposed areas', 'desc': 'label: Atypical nevi in non-sun exposed areas\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001075', 'url': 'http://purl.obolibrary.org/obo/HP_0001075', 'lbl': 'Atrophic scars', 'desc': 'label: Atrophic scars\ndefinition : Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.\nsynonyms :Sunken or indented skin due to damage; Thin, atrophic scars\n'}


{'id': 'HP_0001076', 'url': 'http://purl.obolibrary.org/obo/HP_0001076', 'lbl': 'Glabellar hemangioma', 'desc': 'label: Glabellar hemangioma\ndefinition : \nsynonyms :Glabellar capillary hemangioma\n'}


{'id': 'HP_0001080', 'url': 'http://purl.obolibrary.org/obo/HP_0001080', 'lbl': 'Biliary tract abnormality', 'desc': 'label: Biliary tract abnormality\ndefinition : An abnormality of the biliary tree.\nsynonyms :Biliary tract disease\n'}


{'id': 'HP_0001081', 'url': 'http://purl.obolibrary.org/obo/HP_0001081', 'lbl': 'Cholelithiasis', 'desc': 'label: Cholelithiasis\ndefinition : Hard, pebble-like deposits that form within the gallbladder.\nsynonyms :Gallstones\n'}


{'id': 'HP_0001082', 'url': 'http://purl.obolibrary.org/obo/HP_0001082', 'lbl': 'Cholecystitis', 'desc': 'label: Cholecystitis\ndefinition : The presence of inflammatory changes in the gallbladder.\nsynonyms :Gallbladder inflammation\n'}


{'id': 'HP_0001083', 'url': 'http://purl.obolibrary.org/obo/HP_0001083', 'lbl': 'Ectopia lentis', 'desc': 'label: Ectopia lentis\ndefinition : Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.\nsynonyms :Abnormality of lens position; Lens dislocation\n'}


{'id': 'HP_0001084', 'url': 'http://purl.obolibrary.org/obo/HP_0001084', 'lbl': 'Corneal arcus', 'desc': 'label: Corneal arcus\ndefinition : A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.\nsynonyms :Anterior embryotoxon; Arcus lipoidis; Arcus senilis; Corneal annulus; Gerontoxon; Arcus juvenilis\n'}


{'id': 'HP_0001085', 'url': 'http://purl.obolibrary.org/obo/HP_0001085', 'lbl': 'Papilledema', 'desc': 'label: Papilledema\ndefinition : Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.\nsynonyms :Papillitis\n'}


{'id': 'HP_0001087', 'url': 'http://purl.obolibrary.org/obo/HP_0001087', 'lbl': 'Developmental glaucoma', 'desc': "label: Developmental glaucoma\ndefinition : Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.\nsynonyms :Childhood glaucoma; Infantile glaucoma; Paediatric glaucoma; Pediatric glaucoma\n"}


{'id': 'HP_0001088', 'url': 'http://purl.obolibrary.org/obo/HP_0001088', 'lbl': 'Brushfield spots', 'desc': 'label: Brushfield spots\ndefinition : The presence of whitish spots in a ring-like arrangement at the periphery of the iris.\nsynonyms :Iris brushfield spots; Speckled iris\n'}


{'id': 'HP_0001089', 'url': 'http://purl.obolibrary.org/obo/HP_0001089', 'lbl': 'Iris atrophy', 'desc': 'label: Iris atrophy\ndefinition : Loss of iris tissue (atrophy)\nsynonyms :Iris degeneration\n'}


{'id': 'HP_0001090', 'url': 'http://purl.obolibrary.org/obo/HP_0001090', 'lbl': 'Abnormally large globe', 'desc': 'label: Abnormally large globe\ndefinition : Diffusely large eye (with megalocornea) without glaucoma.\nsynonyms :Increased size of eyes; Large eyes; Megalophthalmos; Increased size of palpebral fissures; Large eyeballs; Large of palpebral fissures\n'}


{'id': 'HP_0001092', 'url': 'http://purl.obolibrary.org/obo/HP_0001092', 'lbl': 'Absent lacrimal punctum', 'desc': 'label: Absent lacrimal punctum\ndefinition : No identifiable superior and/or inferior lacrimal punctum.\nsynonyms :Absent lacrimal gland puncta; Absent lacrimal openings; Absent lacrimal puncta; Aplasia of lacrimal puncta; Lacrimal puncta aplasia; Lacrimal punctum, absence; Agenesis of the lacrimal punctum\n'}


{'id': 'HP_0001093', 'url': 'http://purl.obolibrary.org/obo/HP_0001093', 'lbl': 'Optic nerve dysplasia', 'desc': 'label: Optic nerve dysplasia\ndefinition : The presence of developmental dysplasia of the optic nerve.\nsynonyms :\n'}


{'id': 'HP_0001094', 'url': 'http://purl.obolibrary.org/obo/HP_0001094', 'lbl': 'Iridocyclitis', 'desc': 'label: Iridocyclitis\ndefinition : A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.\nsynonyms :\n'}


{'id': 'HP_0001095', 'url': 'http://purl.obolibrary.org/obo/HP_0001095', 'lbl': 'Hypertensive retinopathy', 'desc': 'label: Hypertensive retinopathy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001096', 'url': 'http://purl.obolibrary.org/obo/HP_0001096', 'lbl': 'Keratoconjunctivitis', 'desc': 'label: Keratoconjunctivitis\ndefinition : Inflammation of the cornea and conjunctiva.\nsynonyms :\n'}


{'id': 'HP_0001097', 'url': 'http://purl.obolibrary.org/obo/HP_0001097', 'lbl': 'Keratoconjunctivitis sicca', 'desc': 'label: Keratoconjunctivitis sicca\ndefinition : Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.\nsynonyms :Dry eyes; Keratitis sicca; Xerophthalmia; Dry eye syndrome\n'}


{'id': 'HP_0001098', 'url': 'http://purl.obolibrary.org/obo/HP_0001098', 'lbl': 'Abnormal fundus morphology', 'desc': 'label: Abnormal fundus morphology\ndefinition : Any structural abnormality of the fundus of the eye.\nsynonyms :Abnormality of the fundus\n'}


{'id': 'HP_0001099', 'url': 'http://purl.obolibrary.org/obo/HP_0001099', 'lbl': 'Fundus atrophy', 'desc': 'label: Fundus atrophy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001100', 'url': 'http://purl.obolibrary.org/obo/HP_0001100', 'lbl': 'Heterochromia iridis', 'desc': 'label: Heterochromia iridis\ndefinition : Heterochromia iridis is a difference in the color of the iris in the two eyes.\nsynonyms :Different colored eyes; Different coloured eyes; Heterochromia irides\n'}


{'id': 'HP_0001101', 'url': 'http://purl.obolibrary.org/obo/HP_0001101', 'lbl': 'Iritis', 'desc': 'label: Iritis\ndefinition : Inflammation of the iris.\nsynonyms :Inflammation of iris\n'}


{'id': 'HP_0001102', 'url': 'http://purl.obolibrary.org/obo/HP_0001102', 'lbl': 'Angioid streaks of the fundus', 'desc': "label: Angioid streaks of the fundus\ndefinition : Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.\nsynonyms :Angioid streaks; Angioid streaks of the retina; Angioid streaks, retina; Knapp streaks; Laquer cracks of the retina\n"}


{'id': 'HP_0001103', 'url': 'http://purl.obolibrary.org/obo/HP_0001103', 'lbl': 'Abnormal macular morphology', 'desc': 'label: Abnormal macular morphology\ndefinition : A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.\nsynonyms :Abnormality of the macula; Macula abnormality; Macular abnormality\n'}


{'id': 'HP_0001104', 'url': 'http://purl.obolibrary.org/obo/HP_0001104', 'lbl': 'Macular hypoplasia', 'desc': 'label: Macular hypoplasia\ndefinition : Underdevelopment of the macula lutea.\nsynonyms :\n'}


{'id': 'HP_0001105', 'url': 'http://purl.obolibrary.org/obo/HP_0001105', 'lbl': 'Retinal atrophy', 'desc': 'label: Retinal atrophy\ndefinition : Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.\nsynonyms :\n'}


{'id': 'HP_0001106', 'url': 'http://purl.obolibrary.org/obo/HP_0001106', 'lbl': 'Periorbital hyperpigmentation', 'desc': 'label: Periorbital hyperpigmentation\ndefinition : Increased pigmentation of the skin in the region surrounding the orbit of the eye.\nsynonyms :Dark circles around the eyes; Dark circles under the eyes; Darkening around the eyes; Idiopathic cutaneous hyperchromia at the orbital region; Infraorbital pigmentation; Periorbital melanosis; Pigmentation around the eyes\n'}


{'id': 'HP_0001107', 'url': 'http://purl.obolibrary.org/obo/HP_0001107', 'lbl': 'Ocular albinism', 'desc': 'label: Ocular albinism\ndefinition : An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.\nsynonyms :Absent pigmentation in the eye; Albinism, Ocular\n'}


{'id': 'HP_0001112', 'url': 'http://purl.obolibrary.org/obo/HP_0001112', 'lbl': 'Leber optic atrophy', 'desc': 'label: Leber optic atrophy\ndefinition : Degeneration of retinal ganglion cells and their axons.\nsynonyms :Leber optic atrophy features; Leber optic degeneration\n'}


{'id': 'HP_0001113', 'url': 'http://purl.obolibrary.org/obo/HP_0001113', 'lbl': 'obsolete Early cataracts', 'desc': 'label: obsolete Early cataracts\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001114', 'url': 'http://purl.obolibrary.org/obo/HP_0001114', 'lbl': 'Xanthelasma', 'desc': 'label: Xanthelasma\ndefinition : The presence of xanthomata in the skin of the eyelid.\nsynonyms :Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma palpebrarum; Xanthoma; Xanthelasma of eyelid; Xanthelasma of periocular region; Xanthoma of eyelid; Xanthoma of periocular region\n'}


{'id': 'HP_0001115', 'url': 'http://purl.obolibrary.org/obo/HP_0001115', 'lbl': 'Posterior polar cataract', 'desc': 'label: Posterior polar cataract\ndefinition : A polar cataract that affects the posterior pole of the lens.\nsynonyms :Polar cataract, posterior\n'}


{'id': 'HP_0001116', 'url': 'http://purl.obolibrary.org/obo/HP_0001116', 'lbl': 'Macular coloboma', 'desc': 'label: Macular coloboma\ndefinition : A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.\nsynonyms :Coloboma of the macula\n'}


{'id': 'HP_0001117', 'url': 'http://purl.obolibrary.org/obo/HP_0001117', 'lbl': 'Sudden loss of visual acuity', 'desc': 'label: Sudden loss of visual acuity\ndefinition : Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.\nsynonyms :Sudden decrease in vision; Sudden central visual loss\n'}


{'id': 'HP_0001118', 'url': 'http://purl.obolibrary.org/obo/HP_0001118', 'lbl': 'Juvenile cataract', 'desc': 'label: Juvenile cataract\ndefinition : A type of cataract that is not apparent at birth but that arises in childhood or adolescence.\nsynonyms :\n'}


{'id': 'HP_0001119', 'url': 'http://purl.obolibrary.org/obo/HP_0001119', 'lbl': 'Keratoglobus', 'desc': 'label: Keratoglobus\ndefinition : Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.\nsynonyms :\n'}


{'id': 'HP_0001120', 'url': 'http://purl.obolibrary.org/obo/HP_0001120', 'lbl': 'Abnormality of corneal size', 'desc': 'label: Abnormality of corneal size\ndefinition : Any abnormality of the size or morphology of the cornea.\nsynonyms :\n'}


{'id': 'HP_0001122', 'url': 'http://purl.obolibrary.org/obo/HP_0001122', 'lbl': 'obsolete Aplasia/Hypoplasia of the choroid', 'desc': 'label: obsolete Aplasia/Hypoplasia of the choroid\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001123', 'url': 'http://purl.obolibrary.org/obo/HP_0001123', 'lbl': 'Visual field defect', 'desc': 'label: Visual field defect\ndefinition : \nsynonyms :Partial loss of field of vision; Visual field defects\n'}


{'id': 'HP_0001125', 'url': 'http://purl.obolibrary.org/obo/HP_0001125', 'lbl': 'Transient unilateral blurring of vision', 'desc': 'label: Transient unilateral blurring of vision\ndefinition : Transient blurring of vision associated with the aura phase of migraine.\nsynonyms :Hemianoptic blurring of vision; Transient unilateral blurred vision; Hemianopic blurring\n'}


{'id': 'HP_0001126', 'url': 'http://purl.obolibrary.org/obo/HP_0001126', 'lbl': 'Cryptophthalmos', 'desc': 'label: Cryptophthalmos\ndefinition : Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.\nsynonyms :\n'}


{'id': 'HP_0001128', 'url': 'http://purl.obolibrary.org/obo/HP_0001128', 'lbl': 'Trichiasis', 'desc': 'label: Trichiasis\ndefinition : Inversion and rubbing of the eyelashes against the globe of the eye.\nsynonyms :Ingrown eyelashes; Introversion of eyelashes; Trichiasis of eyelid eyelashes\n'}


{'id': 'HP_0001129', 'url': 'http://purl.obolibrary.org/obo/HP_0001129', 'lbl': 'Large central visual field defect', 'desc': 'label: Large central visual field defect\ndefinition : \nsynonyms :Large central loss of field of vision\n'}


{'id': 'HP_0001131', 'url': 'http://purl.obolibrary.org/obo/HP_0001131', 'lbl': 'Corneal dystrophy', 'desc': 'label: Corneal dystrophy\ndefinition : The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.\nsynonyms :\n'}


{'id': 'HP_0001132', 'url': 'http://purl.obolibrary.org/obo/HP_0001132', 'lbl': 'Lens subluxation', 'desc': 'label: Lens subluxation\ndefinition : Partial dislocation of the lens of the eye.\nsynonyms :Partially dislocated lens\n'}


{'id': 'HP_0001133', 'url': 'http://purl.obolibrary.org/obo/HP_0001133', 'lbl': 'Constriction of peripheral visual field', 'desc': 'label: Constriction of peripheral visual field\ndefinition : An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.\nsynonyms :Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction\n'}


{'id': 'HP_0001134', 'url': 'http://purl.obolibrary.org/obo/HP_0001134', 'lbl': 'Anterior polar cataract', 'desc': 'label: Anterior polar cataract\ndefinition : A polar cataract that affects the anterior pole of the lens.\nsynonyms :Polar cataract, anterior\n'}


{'id': 'HP_0001135', 'url': 'http://purl.obolibrary.org/obo/HP_0001135', 'lbl': 'Chorioretinal dystrophy', 'desc': 'label: Chorioretinal dystrophy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001136', 'url': 'http://purl.obolibrary.org/obo/HP_0001136', 'lbl': 'Retinal arteriolar tortuosity', 'desc': 'label: Retinal arteriolar tortuosity\ndefinition : The presence of an increased number of twists and turns of the retinal arterioles.\nsynonyms :Tortuous retinal arterioles\n'}


{'id': 'HP_0001137', 'url': 'http://purl.obolibrary.org/obo/HP_0001137', 'lbl': 'Alternating esotropia', 'desc': 'label: Alternating esotropia\ndefinition : Esotropia in which either eye may be used for fixation.\nsynonyms :Alternating cross eyes\n'}


{'id': 'HP_0001138', 'url': 'http://purl.obolibrary.org/obo/HP_0001138', 'lbl': 'Optic neuropathy', 'desc': 'label: Optic neuropathy\ndefinition : \nsynonyms :Damaged optic nerve\n'}


{'id': 'HP_0001139', 'url': 'http://purl.obolibrary.org/obo/HP_0001139', 'lbl': 'Choroideremia', 'desc': 'label: Choroideremia\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001140', 'url': 'http://purl.obolibrary.org/obo/HP_0001140', 'lbl': 'Limbal dermoid', 'desc': 'label: Limbal dermoid\ndefinition : A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).\nsynonyms :Benign eye tumor; Benign eye tumour; Epibulbar dermoid; Epibulbar dermoids\n'}


{'id': 'HP_0001141', 'url': 'http://purl.obolibrary.org/obo/HP_0001141', 'lbl': 'Severely reduced visual acuity', 'desc': 'label: Severely reduced visual acuity\ndefinition : Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).\nsynonyms :Marked vision impairment; Severe reduction in visual acuity; Severe vision loss; Severe visual impairment; Severe visual loss; Severely impaired vision\n'}


{'id': 'HP_0001142', 'url': 'http://purl.obolibrary.org/obo/HP_0001142', 'lbl': 'Lenticonus', 'desc': 'label: Lenticonus\ndefinition : A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.\nsynonyms :\n'}


{'id': 'HP_0001144', 'url': 'http://purl.obolibrary.org/obo/HP_0001144', 'lbl': 'Orbital cyst', 'desc': 'label: Orbital cyst\ndefinition : Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).\nsynonyms :Cyst of eye socket; Orbital cysts\n'}


{'id': 'HP_0001145', 'url': 'http://purl.obolibrary.org/obo/HP_0001145', 'lbl': 'obsolete Chorioretinopathy', 'desc': 'label: obsolete Chorioretinopathy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001146', 'url': 'http://purl.obolibrary.org/obo/HP_0001146', 'lbl': 'obsolete Pigmentary retinal degeneration', 'desc': 'label: obsolete Pigmentary retinal degeneration\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001147', 'url': 'http://purl.obolibrary.org/obo/HP_0001147', 'lbl': 'Retinal exudate', 'desc': 'label: Retinal exudate\ndefinition : Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.\nsynonyms :Retinal exudates\n'}


{'id': 'HP_0001149', 'url': 'http://purl.obolibrary.org/obo/HP_0001149', 'lbl': 'Lattice corneal dystrophy', 'desc': "label: Lattice corneal dystrophy\ndefinition : The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.\nsynonyms :Biber haab dimmer dystrophy\n"}


{'id': 'HP_0001150', 'url': 'http://purl.obolibrary.org/obo/HP_0001150', 'lbl': 'obsolete Choroidal sclerosis', 'desc': 'label: obsolete Choroidal sclerosis\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001151', 'url': 'http://purl.obolibrary.org/obo/HP_0001151', 'lbl': 'Impaired horizontal smooth pursuit', 'desc': 'label: Impaired horizontal smooth pursuit\ndefinition : An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.\nsynonyms :Abnormal horizontal ocular pursuit; Impaired horizontal visual pursuit\n'}


{'id': 'HP_0001152', 'url': 'http://purl.obolibrary.org/obo/HP_0001152', 'lbl': 'Saccadic smooth pursuit', 'desc': 'label: Saccadic smooth pursuit\ndefinition : An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.\nsynonyms :Saccadic pursuit movements; Saccadic slow pursuit\n'}


{'id': 'HP_0001153', 'url': 'http://purl.obolibrary.org/obo/HP_0001153', 'lbl': 'Septate vagina', 'desc': 'label: Septate vagina\ndefinition : The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.\nsynonyms :Double vagina\n'}


{'id': 'HP_0001155', 'url': 'http://purl.obolibrary.org/obo/HP_0001155', 'lbl': 'Abnormality of the hand', 'desc': 'label: Abnormality of the hand\ndefinition : An abnormality affecting one or both hands.\nsynonyms :Abnormal hands; Abnormality of the hand; Hand anomalies; Hand deformities\n'}


{'id': 'HP_0001156', 'url': 'http://purl.obolibrary.org/obo/HP_0001156', 'lbl': 'Brachydactyly', 'desc': 'label: Brachydactyly\ndefinition : Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.\nsynonyms :Brachydactyly syndrome; Short fingers or toes\n'}


{'id': 'HP_0001159', 'url': 'http://purl.obolibrary.org/obo/HP_0001159', 'lbl': 'Syndactyly', 'desc': 'label: Syndactyly\ndefinition : Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".\nsynonyms :Webbed fingers or toes\n'}


{'id': 'HP_0001161', 'url': 'http://purl.obolibrary.org/obo/HP_0001161', 'lbl': 'Hand polydactyly', 'desc': 'label: Hand polydactyly\ndefinition : A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.\nsynonyms :Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger\n'}


{'id': 'HP_0001162', 'url': 'http://purl.obolibrary.org/obo/HP_0001162', 'lbl': 'Postaxial hand polydactyly', 'desc': 'label: Postaxial hand polydactyly\ndefinition : Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).\nsynonyms :Extra little finger; Extra pinkie finger; Extra pinky finger; Polydactyly affecting the 5th finger; Postaxial polydactyly of fingers; Postaxial polydactyly of hand; Postaxial polydactyly of hands\n'}


{'id': 'HP_0001163', 'url': 'http://purl.obolibrary.org/obo/HP_0001163', 'lbl': 'Abnormality of the metacarpal bones', 'desc': 'label: Abnormality of the metacarpal bones\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001166', 'url': 'http://purl.obolibrary.org/obo/HP_0001166', 'lbl': 'Arachnodactyly', 'desc': 'label: Arachnodactyly\ndefinition : Abnormally long and slender fingers ("spider fingers").\nsynonyms :Long slender fingers; Long, slender fingers; Spider fingers\n'}


{'id': 'HP_0001167', 'url': 'http://purl.obolibrary.org/obo/HP_0001167', 'lbl': 'Abnormal finger morphology', 'desc': 'label: Abnormal finger morphology\ndefinition : An anomaly of a finger.\nsynonyms :Abnormalities of the fingers; Abnormality of finger\n'}


{'id': 'HP_0001169', 'url': 'http://purl.obolibrary.org/obo/HP_0001169', 'lbl': 'Broad palm', 'desc': 'label: Broad palm\ndefinition : For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.\nsynonyms :Broad hand; Broad hands; Broad palm; Wide palm\n'}


{'id': 'HP_0001171', 'url': 'http://purl.obolibrary.org/obo/HP_0001171', 'lbl': 'Split hand', 'desc': 'label: Split hand\ndefinition : A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.\nsynonyms :Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand\n'}


{'id': 'HP_0001172', 'url': 'http://purl.obolibrary.org/obo/HP_0001172', 'lbl': 'Abnormal thumb morphology', 'desc': 'label: Abnormal thumb morphology\ndefinition : An abnormal structure of the first digit of the hand.\nsynonyms :Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity\n'}


{'id': 'HP_0001176', 'url': 'http://purl.obolibrary.org/obo/HP_0001176', 'lbl': 'Large hands', 'desc': 'label: Large hands\ndefinition : \nsynonyms :Disproportionately large hands; Large hands; large hand\n'}


{'id': 'HP_0001177', 'url': 'http://purl.obolibrary.org/obo/HP_0001177', 'lbl': 'Preaxial hand polydactyly', 'desc': 'label: Preaxial hand polydactyly\ndefinition : Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.\nsynonyms :Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly\n'}


{'id': 'HP_0001178', 'url': 'http://purl.obolibrary.org/obo/HP_0001178', 'lbl': 'Ulnar claw', 'desc': 'label: Ulnar claw\ndefinition : An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.\nsynonyms :\n'}


{'id': 'HP_0001180', 'url': 'http://purl.obolibrary.org/obo/HP_0001180', 'lbl': 'Hand oligodactyly', 'desc': 'label: Hand oligodactyly\ndefinition : A developmental defect resulting in the presence of fewer than the normal number of fingers.\nsynonyms :Hand has less than 5 fingers\n'}


{'id': 'HP_0001181', 'url': 'http://purl.obolibrary.org/obo/HP_0001181', 'lbl': 'Adducted thumb', 'desc': 'label: Adducted thumb\ndefinition : In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.\nsynonyms :Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern\n'}


{'id': 'HP_0001182', 'url': 'http://purl.obolibrary.org/obo/HP_0001182', 'lbl': 'Tapered finger', 'desc': 'label: Tapered finger\ndefinition : The gradual reduction in girth of the finger from proximal to distal.\nsynonyms :Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers; Tapered fingers\n'}


{'id': 'HP_0001187', 'url': 'http://purl.obolibrary.org/obo/HP_0001187', 'lbl': 'Hyperextensibility of the finger joints', 'desc': 'label: Hyperextensibility of the finger joints\ndefinition : The ability of the finger joints to move beyond their normal range of motion.\nsynonyms :Finger joint hyperextensibility; Hyperextensible digits; Hyperextensible finger; Hyperextensible fingers\n'}


{'id': 'HP_0001188', 'url': 'http://purl.obolibrary.org/obo/HP_0001188', 'lbl': 'Hand clenching', 'desc': 'label: Hand clenching\ndefinition : An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.\nsynonyms :Clenched hand; Clenched hands; Hand clenching\n'}


{'id': 'HP_0001191', 'url': 'http://purl.obolibrary.org/obo/HP_0001191', 'lbl': 'Abnormal carpal morphology', 'desc': 'label: Abnormal carpal morphology\ndefinition : An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).\nsynonyms :Abnormal wrist bones; Abnormal carpal bones; Abnormality of the carpal bones; Anomalous carpal bones; Carpal bone anomalies\n'}


{'id': 'HP_0001193', 'url': 'http://purl.obolibrary.org/obo/HP_0001193', 'lbl': 'Ulnar deviation of the hand or of fingers of the hand', 'desc': 'label: Ulnar deviation of the hand or of fingers of the hand\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001194', 'url': 'http://purl.obolibrary.org/obo/HP_0001194', 'lbl': 'Abnormalities of placenta or umbilical cord', 'desc': 'label: Abnormalities of placenta or umbilical cord\ndefinition : An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).\nsynonyms :Abnormalities of placenta or umbilical cord\n'}


{'id': 'HP_0001195', 'url': 'http://purl.obolibrary.org/obo/HP_0001195', 'lbl': 'Single umbilical artery', 'desc': 'label: Single umbilical artery\ndefinition : Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.\nsynonyms :2 vessel cord; 2 vessel umbilical cord; Only one artery in umbilical cord instead of two; Two vessel cord; Two vessel umbilical cord; Two-vessel cord\n'}


{'id': 'HP_0001196', 'url': 'http://purl.obolibrary.org/obo/HP_0001196', 'lbl': 'Short umbilical cord', 'desc': 'label: Short umbilical cord\ndefinition : Decreased length of the umbilical cord.\nsynonyms :Short umbilical cord\n'}


{'id': 'HP_0001197', 'url': 'http://purl.obolibrary.org/obo/HP_0001197', 'lbl': 'Abnormality of prenatal development or birth', 'desc': 'label: Abnormality of prenatal development or birth\ndefinition : An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.\nsynonyms :Abnormality of prenatal development or birth\n'}


{'id': 'HP_0001199', 'url': 'http://purl.obolibrary.org/obo/HP_0001199', 'lbl': 'Triphalangeal thumb', 'desc': 'label: Triphalangeal thumb\ndefinition : A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.\nsynonyms :Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb\n'}


{'id': 'HP_0001204', 'url': 'http://purl.obolibrary.org/obo/HP_0001204', 'lbl': 'Distal symphalangism of hands', 'desc': 'label: Distal symphalangism of hands\ndefinition : The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.\nsynonyms :Fused outermost bones of hand; Symphalangism affecting the distal phalanges of the hand; Synostosis of distal phalanges; Terminal symphalangism\n'}


{'id': 'HP_0001211', 'url': 'http://purl.obolibrary.org/obo/HP_0001211', 'lbl': 'Abnormal fingertip morphology', 'desc': 'label: Abnormal fingertip morphology\ndefinition : An abnormal structure of the tip (end) of a finger.\nsynonyms :Abnormality of the fingertips\n'}


{'id': 'HP_0001212', 'url': 'http://purl.obolibrary.org/obo/HP_0001212', 'lbl': 'Prominent fingertip pads', 'desc': 'label: Prominent fingertip pads\ndefinition : A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.\nsynonyms :Persistence of fingerpads; Persistent fetal fingertip pads; Persistent foetal fingertip pads; Prominent finger pads; Prominent fingertip pads\n'}


{'id': 'HP_0001215', 'url': 'http://purl.obolibrary.org/obo/HP_0001215', 'lbl': 'Camptodactyly of 2nd-5th fingers', 'desc': 'label: Camptodactyly of 2nd-5th fingers\ndefinition : The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.\nsynonyms :\n'}


{'id': 'HP_0001216', 'url': 'http://purl.obolibrary.org/obo/HP_0001216', 'lbl': 'Delayed ossification of carpal bones', 'desc': 'label: Delayed ossification of carpal bones\ndefinition : Ossification of carpal bones occurs later than age-adjusted norms.\nsynonyms :Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones; Delayed maturation of wrist bone\n'}


{'id': 'HP_0001217', 'url': 'http://purl.obolibrary.org/obo/HP_0001217', 'lbl': 'Clubbing', 'desc': 'label: Clubbing\ndefinition : Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.\nsynonyms :Clubbing of fingers and toes; Digital clubbing\n'}


{'id': 'HP_0001218', 'url': 'http://purl.obolibrary.org/obo/HP_0001218', 'lbl': 'Autoamputation', 'desc': 'label: Autoamputation\ndefinition : Spontaneous detachment (amputation) of an appendage from the body.\nsynonyms :\n'}


{'id': 'HP_0001220', 'url': 'http://purl.obolibrary.org/obo/HP_0001220', 'lbl': 'Interphalangeal joint contracture of finger', 'desc': 'label: Interphalangeal joint contracture of finger\ndefinition : Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.\nsynonyms :Interphalangeal joint flexion contractures\n'}


{'id': 'HP_0001222', 'url': 'http://purl.obolibrary.org/obo/HP_0001222', 'lbl': 'Spatulate thumbs', 'desc': 'label: Spatulate thumbs\ndefinition : Spoon-shaped, broad thumbs.\nsynonyms :Spoon shaped thumbs\n'}


{'id': 'HP_0001223', 'url': 'http://purl.obolibrary.org/obo/HP_0001223', 'lbl': 'Pointed proximal second through fifth metacarpals', 'desc': 'label: Pointed proximal second through fifth metacarpals\ndefinition : All of the metacarpal bones of the hand have a pointed proximal appearance.\nsynonyms :\n'}


{'id': 'HP_0001225', 'url': 'http://purl.obolibrary.org/obo/HP_0001225', 'lbl': 'Wrist swelling', 'desc': 'label: Wrist swelling\ndefinition : \nsynonyms :Wrist swelling\n'}


{'id': 'HP_0001226', 'url': 'http://purl.obolibrary.org/obo/HP_0001226', 'lbl': 'obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits', 'desc': 'label: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001227', 'url': 'http://purl.obolibrary.org/obo/HP_0001227', 'lbl': 'Abnormality of the thenar eminence', 'desc': 'label: Abnormality of the thenar eminence\ndefinition : An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.\nsynonyms :Thenar abnormality\n'}


{'id': 'HP_0001230', 'url': 'http://purl.obolibrary.org/obo/HP_0001230', 'lbl': 'Broad metacarpals', 'desc': 'label: Broad metacarpals\ndefinition : Abnormally broad metacarpal bones.\nsynonyms :Wide long bones of hand; Wide metacarpals\n'}


{'id': 'HP_0001231', 'url': 'http://purl.obolibrary.org/obo/HP_0001231', 'lbl': 'Abnormal fingernail morphology', 'desc': 'label: Abnormal fingernail morphology\ndefinition : An abnormality of the fingernails.\nsynonyms :Abnormal fingernails; Abnormality of the fingernails\n'}


{'id': 'HP_0001232', 'url': 'http://purl.obolibrary.org/obo/HP_0001232', 'lbl': 'Nail bed telangiectasia', 'desc': 'label: Nail bed telangiectasia\ndefinition : Telangiectases in the area of the nails.\nsynonyms :Nail bed telangiectases\n'}


{'id': 'HP_0001233', 'url': 'http://purl.obolibrary.org/obo/HP_0001233', 'lbl': '2-3 finger syndactyly', 'desc': 'label: 2-3 finger syndactyly\ndefinition : Syndactyly with fusion of fingers two and three.\nsynonyms :Syndactyly 2nd-3rd fingers; Syndactyly, 2-3 finger; Webbed 2nd-3rd fingers\n'}


{'id': 'HP_0001234', 'url': 'http://purl.obolibrary.org/obo/HP_0001234', 'lbl': 'Hitchhiker thumb', 'desc': 'label: Hitchhiker thumb\ndefinition : With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.\nsynonyms :Abducted thumb; Hitchhiker thumb\n'}


{'id': 'HP_0001238', 'url': 'http://purl.obolibrary.org/obo/HP_0001238', 'lbl': 'Slender finger', 'desc': 'label: Slender finger\ndefinition : Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.\nsynonyms :Narrow fingers; Slender finger; Slender fingers; thin fingers\n'}


{'id': 'HP_0001239', 'url': 'http://purl.obolibrary.org/obo/HP_0001239', 'lbl': 'Wrist flexion contracture', 'desc': 'label: Wrist flexion contracture\ndefinition : A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.\nsynonyms :Wrist contracture; Wrist flexion deformity\n'}


{'id': 'HP_0001241', 'url': 'http://purl.obolibrary.org/obo/HP_0001241', 'lbl': 'Capitate-hamate fusion', 'desc': 'label: Capitate-hamate fusion\ndefinition : \nsynonyms :Capitate-hamate fusions; Fused capitate and hamate; Fusion of capitate and hamate; Fusion of hamate and capitate\n'}


{'id': 'HP_0001245', 'url': 'http://purl.obolibrary.org/obo/HP_0001245', 'lbl': 'Small thenar eminence', 'desc': 'label: Small thenar eminence\ndefinition : Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.\nsynonyms :Decreased thenar eminence; Hypoplastic thenar eminences; Thenar hypoplasia; Thenar muscle hypoplasia\n'}


{'id': 'HP_0001248', 'url': 'http://purl.obolibrary.org/obo/HP_0001248', 'lbl': 'Short tubular bones of the hand', 'desc': 'label: Short tubular bones of the hand\ndefinition : Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.\nsynonyms :Shortened short tubular bones of the hand\n'}


{'id': 'HP_0001249', 'url': 'http://purl.obolibrary.org/obo/HP_0001249', 'lbl': 'Intellectual disability', 'desc': 'label: Intellectual disability\ndefinition : Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.\nsynonyms :Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; Dull intelligence; Low intelligence; Poor school performance\n'}


{'id': 'HP_0001250', 'url': 'http://purl.obolibrary.org/obo/HP_0001250', 'lbl': 'Seizure', 'desc': 'label: Seizure\ndefinition : A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.\nsynonyms :Epileptic seizure; Seizures; Epilepsy\n'}


{'id': 'HP_0001251', 'url': 'http://purl.obolibrary.org/obo/HP_0001251', 'lbl': 'Ataxia', 'desc': 'label: Ataxia\ndefinition : Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).\nsynonyms :Cerebellar ataxia\n'}


{'id': 'HP_0001252', 'url': 'http://purl.obolibrary.org/obo/HP_0001252', 'lbl': 'Hypotonia', 'desc': 'label: Hypotonia\ndefinition : Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.\nsynonyms :Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia; Central hypotonia; Peripheral hypotonia\n'}


{'id': 'HP_0001254', 'url': 'http://purl.obolibrary.org/obo/HP_0001254', 'lbl': 'Lethargy', 'desc': 'label: Lethargy\ndefinition : A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.\nsynonyms :Lethargy\n'}


{'id': 'HP_0001256', 'url': 'http://purl.obolibrary.org/obo/HP_0001256', 'lbl': 'Intellectual disability, mild', 'desc': 'label: Intellectual disability, mild\ndefinition : Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.\nsynonyms :Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation; Mental retardation, mild\n'}


{'id': 'HP_0001257', 'url': 'http://purl.obolibrary.org/obo/HP_0001257', 'lbl': 'Spasticity', 'desc': 'label: Spasticity\ndefinition : A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.\nsynonyms :Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity\n'}


{'id': 'HP_0001258', 'url': 'http://purl.obolibrary.org/obo/HP_0001258', 'lbl': 'Spastic paraplegia', 'desc': 'label: Spastic paraplegia\ndefinition : Spasticity and weakness of the leg and hip muscles.\nsynonyms :Spastic paraplegia, lower limb\n'}


{'id': 'HP_0001259', 'url': 'http://purl.obolibrary.org/obo/HP_0001259', 'lbl': 'Coma', 'desc': 'label: Coma\ndefinition : Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.\nsynonyms :Coma\n'}


{'id': 'HP_0001260', 'url': 'http://purl.obolibrary.org/obo/HP_0001260', 'lbl': 'Dysarthria', 'desc': 'label: Dysarthria\ndefinition : Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.\nsynonyms :Difficulty articulating speech; Dysarthric speech\n'}


{'id': 'HP_0001262', 'url': 'http://purl.obolibrary.org/obo/HP_0001262', 'lbl': 'Excessive daytime somnolence', 'desc': 'label: Excessive daytime somnolence\ndefinition : A state of abnormally strong desire for sleep during the daytime.\nsynonyms :Excessive daytime sleepiness; More than typical sleepiness during day\n'}


{'id': 'HP_0001263', 'url': 'http://purl.obolibrary.org/obo/HP_0001263', 'lbl': 'Global developmental delay', 'desc': 'label: Global developmental delay\ndefinition : A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.\nsynonyms :Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development; Cognitive delay; Mental and motor retardation\n'}


{'id': 'HP_0001264', 'url': 'http://purl.obolibrary.org/obo/HP_0001264', 'lbl': 'Spastic diplegia', 'desc': 'label: Spastic diplegia\ndefinition : Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.\nsynonyms :Spastic diparesis; Spastic diplegic\n'}


{'id': 'HP_0001265', 'url': 'http://purl.obolibrary.org/obo/HP_0001265', 'lbl': 'Hyporeflexia', 'desc': 'label: Hyporeflexia\ndefinition : Reduction of neurologic reflexes such as the knee-jerk reaction.\nsynonyms :Decreased reflex response; Decreased reflexes\n'}


{'id': 'HP_0001266', 'url': 'http://purl.obolibrary.org/obo/HP_0001266', 'lbl': 'Choreoathetosis', 'desc': 'label: Choreoathetosis\ndefinition : Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).\nsynonyms :Choreoathetoid movements\n'}


{'id': 'HP_0001268', 'url': 'http://purl.obolibrary.org/obo/HP_0001268', 'lbl': 'Mental deterioration', 'desc': 'label: Mental deterioration\ndefinition : Loss of previously present mental abilities, generally in adults.\nsynonyms :Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline\n'}


{'id': 'HP_0001269', 'url': 'http://purl.obolibrary.org/obo/HP_0001269', 'lbl': 'Hemiparesis', 'desc': 'label: Hemiparesis\ndefinition : Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.\nsynonyms :Weakness of one side of body\n'}


{'id': 'HP_0001270', 'url': 'http://purl.obolibrary.org/obo/HP_0001270', 'lbl': 'Motor delay', 'desc': 'label: Motor delay\ndefinition : A type of Developmental delay characterized by a delay in acquiring motor skills.\nsynonyms :Delay in motor development; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; No development of motor milestones\n'}


{'id': 'HP_0001271', 'url': 'http://purl.obolibrary.org/obo/HP_0001271', 'lbl': 'Polyneuropathy', 'desc': 'label: Polyneuropathy\ndefinition : A generalized disorder of peripheral nerves.\nsynonyms :Peripheral nerve disease\n'}


{'id': 'HP_0001272', 'url': 'http://purl.obolibrary.org/obo/HP_0001272', 'lbl': 'Cerebellar atrophy', 'desc': 'label: Cerebellar atrophy\ndefinition : Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.\nsynonyms :Atrophic cerebellum; Degeneration of cerebellum; Infratentorial atrophy\n'}


{'id': 'HP_0001273', 'url': 'http://purl.obolibrary.org/obo/HP_0001273', 'lbl': 'Abnormal corpus callosum morphology', 'desc': 'label: Abnormal corpus callosum morphology\ndefinition : Abnormality of the corpus callosum.\nsynonyms :Abnormal corpus callosum; Abnormality of the corpus callosum; Corpus callosum abnormality\n'}


{'id': 'HP_0001274', 'url': 'http://purl.obolibrary.org/obo/HP_0001274', 'lbl': 'Agenesis of corpus callosum', 'desc': 'label: Agenesis of corpus callosum\ndefinition : Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.\nsynonyms :Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum\n'}


{'id': 'HP_0001276', 'url': 'http://purl.obolibrary.org/obo/HP_0001276', 'lbl': 'Hypertonia', 'desc': 'label: Hypertonia\ndefinition : A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.\nsynonyms :Hypertonicity; Increased muscle tone; Spasticity and rigidity of muscles; Muscle hypertonia\n'}


{'id': 'HP_0001278', 'url': 'http://purl.obolibrary.org/obo/HP_0001278', 'lbl': 'Orthostatic hypotension', 'desc': 'label: Orthostatic hypotension\ndefinition : A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.\nsynonyms :Decrease in blood pressure upon standing up; Postural hypotension\n'}


{'id': 'HP_0001279', 'url': 'http://purl.obolibrary.org/obo/HP_0001279', 'lbl': 'Syncope', 'desc': 'label: Syncope\ndefinition : Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.\nsynonyms :Fainting spell\n'}


{'id': 'HP_0001281', 'url': 'http://purl.obolibrary.org/obo/HP_0001281', 'lbl': 'Tetany', 'desc': 'label: Tetany\ndefinition : A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.\nsynonyms :Intermittent involuntary muscle spasm\n'}


{'id': 'HP_0001283', 'url': 'http://purl.obolibrary.org/obo/HP_0001283', 'lbl': 'Bulbar palsy', 'desc': 'label: Bulbar palsy\ndefinition : Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.\nsynonyms :Bulbar muscle weakness; Bulbar palsies; Bulbar weakness\n'}


{'id': 'HP_0001284', 'url': 'http://purl.obolibrary.org/obo/HP_0001284', 'lbl': 'Areflexia', 'desc': 'label: Areflexia\ndefinition : Absence of neurologic reflexes such as the knee-jerk reaction.\nsynonyms :Absent reflexes; Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes\n'}


{'id': 'HP_0001285', 'url': 'http://purl.obolibrary.org/obo/HP_0001285', 'lbl': 'Spastic tetraparesis', 'desc': 'label: Spastic tetraparesis\ndefinition : Spastic weakness affecting all four limbs.\nsynonyms :Spastic quadriparesis\n'}


{'id': 'HP_0001287', 'url': 'http://purl.obolibrary.org/obo/HP_0001287', 'lbl': 'Meningitis', 'desc': 'label: Meningitis\ndefinition : Inflammation of the meninges.\nsynonyms :\n'}


{'id': 'HP_0001288', 'url': 'http://purl.obolibrary.org/obo/HP_0001288', 'lbl': 'Gait disturbance', 'desc': 'label: Gait disturbance\ndefinition : 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.\nsynonyms :Abnormal gait; Abnormal walk; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait\n'}


{'id': 'HP_0001289', 'url': 'http://purl.obolibrary.org/obo/HP_0001289', 'lbl': 'Confusion', 'desc': 'label: Confusion\ndefinition : Lack of clarity and coherence of thought, perception, understanding, or action.\nsynonyms :Confusion; Disorientation; Easily confused; Mental disorientation\n'}


{'id': 'HP_0001290', 'url': 'http://purl.obolibrary.org/obo/HP_0001290', 'lbl': 'Generalized hypotonia', 'desc': 'label: Generalized hypotonia\ndefinition : Generalized muscular hypotonia (abnormally low muscle tone).\nsynonyms :Generalised decreased muscle tone; Generalised hypotonia; Generalised muscular hypotonia; Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalised; Hypotonia, generalized\n'}


{'id': 'HP_0001291', 'url': 'http://purl.obolibrary.org/obo/HP_0001291', 'lbl': 'Abnormal cranial nerve morphology', 'desc': 'label: Abnormal cranial nerve morphology\ndefinition : Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.\nsynonyms :Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement; Cranial nerve abnormality\n'}


{'id': 'HP_0001293', 'url': 'http://purl.obolibrary.org/obo/HP_0001293', 'lbl': 'Cranial nerve compression', 'desc': 'label: Cranial nerve compression\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001297', 'url': 'http://purl.obolibrary.org/obo/HP_0001297', 'lbl': 'Stroke', 'desc': 'label: Stroke\ndefinition : Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.\nsynonyms :Cerebral vascular events; Cerebrovascular accident; Stroke; Cerebrovascular accidents\n'}


{'id': 'HP_0001298', 'url': 'http://purl.obolibrary.org/obo/HP_0001298', 'lbl': 'Encephalopathy', 'desc': 'label: Encephalopathy\ndefinition : Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.\nsynonyms :\n'}


{'id': 'HP_0001300', 'url': 'http://purl.obolibrary.org/obo/HP_0001300', 'lbl': 'Parkinsonism', 'desc': 'label: Parkinsonism\ndefinition : Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.\nsynonyms :Parkinsonian disease\n'}


{'id': 'HP_0001301', 'url': 'http://purl.obolibrary.org/obo/HP_0001301', 'lbl': 'Chronic sensorineural polyneuropathy', 'desc': 'label: Chronic sensorineural polyneuropathy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001302', 'url': 'http://purl.obolibrary.org/obo/HP_0001302', 'lbl': 'Pachygyria', 'desc': 'label: Pachygyria\ndefinition : Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.\nsynonyms :Cerebral pachygyria; Fewer and broader ridges in brain\n'}


{'id': 'HP_0001304', 'url': 'http://purl.obolibrary.org/obo/HP_0001304', 'lbl': 'Torsion dystonia', 'desc': 'label: Torsion dystonia\ndefinition : Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.\nsynonyms :Dystonia musculorum deformans\n'}


{'id': 'HP_0001305', 'url': 'http://purl.obolibrary.org/obo/HP_0001305', 'lbl': 'Dandy-Walker malformation', 'desc': "label: Dandy-Walker malformation\ndefinition : A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.\nsynonyms :Dandy-Walker cyst; Dandy-walker anomaly\n"}


{'id': 'HP_0001308', 'url': 'http://purl.obolibrary.org/obo/HP_0001308', 'lbl': 'Tongue fasciculations', 'desc': 'label: Tongue fasciculations\ndefinition : Fasciculations or fibrillation affecting the tongue muscle.\nsynonyms :Lingual fasciculations; Lingual fibrillations; Lingual twitching; Tongue fasciculation; Tongue fasciculations/fibrillations; Tongue twitching; Twitching of the tongue\n'}


{'id': 'HP_0001310', 'url': 'http://purl.obolibrary.org/obo/HP_0001310', 'lbl': 'Dysmetria', 'desc': 'label: Dysmetria\ndefinition : A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.\nsynonyms :Lack of coordination of movement; Abnormal finger chase test; Abnormal finger-nose-finger test\n'}


{'id': 'HP_0001311', 'url': 'http://purl.obolibrary.org/obo/HP_0001311', 'lbl': 'Abnormal nervous system electrophysiology', 'desc': 'label: Abnormal nervous system electrophysiology\ndefinition : An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.\nsynonyms :Neurophysiologic abnormalities; Neurophysiologic abnormality\n'}


{'id': 'HP_0001312', 'url': 'http://purl.obolibrary.org/obo/HP_0001312', 'lbl': 'Giant somatosensory evoked potentials', 'desc': 'label: Giant somatosensory evoked potentials\ndefinition : An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.\nsynonyms :Giant SEPS\n'}


{'id': 'HP_0001315', 'url': 'http://purl.obolibrary.org/obo/HP_0001315', 'lbl': 'Reduced tendon reflexes', 'desc': 'label: Reduced tendon reflexes\ndefinition : Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.\nsynonyms :Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes\n'}


{'id': 'HP_0001317', 'url': 'http://purl.obolibrary.org/obo/HP_0001317', 'lbl': 'Abnormal cerebellum morphology', 'desc': 'label: Abnormal cerebellum morphology\ndefinition : Any structural abnormality of the cerebellum.\nsynonyms :Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs\n'}


{'id': 'HP_0001319', 'url': 'http://purl.obolibrary.org/obo/HP_0001319', 'lbl': 'Neonatal hypotonia', 'desc': 'label: Neonatal hypotonia\ndefinition : Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.\nsynonyms :Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset; Congenital hypotonia\n'}


{'id': 'HP_0001320', 'url': 'http://purl.obolibrary.org/obo/HP_0001320', 'lbl': 'Cerebellar vermis hypoplasia', 'desc': 'label: Cerebellar vermis hypoplasia\ndefinition : Underdevelopment of the vermis of cerebellum.\nsynonyms :Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis\n'}


{'id': 'HP_0001321', 'url': 'http://purl.obolibrary.org/obo/HP_0001321', 'lbl': 'Cerebellar hypoplasia', 'desc': 'label: Cerebellar hypoplasia\ndefinition : Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.\nsynonyms :Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum\n'}


{'id': 'HP_0001322', 'url': 'http://purl.obolibrary.org/obo/HP_0001322', 'lbl': 'obsolete Brain very small', 'desc': 'label: obsolete Brain very small\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001324', 'url': 'http://purl.obolibrary.org/obo/HP_0001324', 'lbl': 'Muscle weakness', 'desc': 'label: Muscle weakness\ndefinition : Reduced strength of muscles.\nsynonyms :Muscle weakness; Muscular weakness\n'}


{'id': 'HP_0001325', 'url': 'http://purl.obolibrary.org/obo/HP_0001325', 'lbl': 'Hypoglycemic coma', 'desc': 'label: Hypoglycemic coma\ndefinition : \nsynonyms :Coma caused by low blood sugar; Coma, hypoglycemic; Hypoglycaemic coma; Loss of consciousness due to hypoglycemia\n'}


{'id': 'HP_0001326', 'url': 'http://purl.obolibrary.org/obo/HP_0001326', 'lbl': 'EEG with irregular generalized spike and wave complexes', 'desc': 'label: EEG with irregular generalized spike and wave complexes\ndefinition : EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.\nsynonyms :EEG with irregular generalised spike and wave complexes\n'}


{'id': 'HP_0001327', 'url': 'http://purl.obolibrary.org/obo/HP_0001327', 'lbl': 'Photosensitive myoclonic seizure', 'desc': 'label: Photosensitive myoclonic seizure\ndefinition : Generalised myoclonic seizure provoked by flashing or flickering light.\nsynonyms :Photically induced myoclonic seizure; Photomyoclonic seizure; Photomyoclonic seizures\n'}


{'id': 'HP_0001328', 'url': 'http://purl.obolibrary.org/obo/HP_0001328', 'lbl': 'Specific learning disability', 'desc': 'label: Specific learning disability\ndefinition : Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.\nsynonyms :\n'}


{'id': 'HP_0001331', 'url': 'http://purl.obolibrary.org/obo/HP_0001331', 'lbl': 'Absent septum pellucidum', 'desc': 'label: Absent septum pellucidum\ndefinition : Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.\nsynonyms :Absence of septum pellucidum; Absence of the septum pellucidum; Agenesis of the septum pellucidum; Missing septum pellucidum\n'}


{'id': 'HP_0001332', 'url': 'http://purl.obolibrary.org/obo/HP_0001332', 'lbl': 'Dystonia', 'desc': 'label: Dystonia\ndefinition : An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.\nsynonyms :Dystonic movements; Dystonic disease\n'}


{'id': 'HP_0001334', 'url': 'http://purl.obolibrary.org/obo/HP_0001334', 'lbl': 'Communicating hydrocephalus', 'desc': 'label: Communicating hydrocephalus\ndefinition : A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.\nsynonyms :\n'}


{'id': 'HP_0001335', 'url': 'http://purl.obolibrary.org/obo/HP_0001335', 'lbl': 'Bimanual synkinesia', 'desc': 'label: Bimanual synkinesia\ndefinition : Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.\nsynonyms :Hand mirror movements; Mirror hand movements; Mirror movements\n'}


{'id': 'HP_0001336', 'url': 'http://purl.obolibrary.org/obo/HP_0001336', 'lbl': 'Myoclonus', 'desc': 'label: Myoclonus\ndefinition : Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.\nsynonyms :Jerking; Myoclonic jerks; Involuntary jerking movements\n'}


{'id': 'HP_0001337', 'url': 'http://purl.obolibrary.org/obo/HP_0001337', 'lbl': 'Tremor', 'desc': 'label: Tremor\ndefinition : An unintentional, oscillating to-and-fro muscle movement about a joint axis.\nsynonyms :Tremor; Tremors\n'}


{'id': 'HP_0001338', 'url': 'http://purl.obolibrary.org/obo/HP_0001338', 'lbl': 'Partial agenesis of the corpus callosum', 'desc': 'label: Partial agenesis of the corpus callosum\ndefinition : A partial failure of the development of the corpus callosum.\nsynonyms :Corpus callosum agenesis, partial; Partial agenesis of corpus callosum; Partial corpus callosum agenesis; Partial or complete agenesis of corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum; Partial or complete agenesis of the corpus callosum\n'}


{'id': 'HP_0001339', 'url': 'http://purl.obolibrary.org/obo/HP_0001339', 'lbl': 'Lissencephaly', 'desc': 'label: Lissencephaly\ndefinition : A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.\nsynonyms :Fewer or absent grooves in brain\n'}


{'id': 'HP_0001340', 'url': 'http://purl.obolibrary.org/obo/HP_0001340', 'lbl': 'Enhancement of the C-reflex', 'desc': 'label: Enhancement of the C-reflex\ndefinition : Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.\nsynonyms :\n'}


{'id': 'HP_0001341', 'url': 'http://purl.obolibrary.org/obo/HP_0001341', 'lbl': 'Olfactory lobe agenesis', 'desc': 'label: Olfactory lobe agenesis\ndefinition : \nsynonyms :Olfactory lobe absence\n'}


{'id': 'HP_0001342', 'url': 'http://purl.obolibrary.org/obo/HP_0001342', 'lbl': 'Cerebral hemorrhage', 'desc': 'label: Cerebral hemorrhage\ndefinition : Hemorrhage into the parenchyma of the brain.\nsynonyms :Bleeding in brain; Cerebral haemorrhage; Intracerebral haemorrhage; Intracerebral hemorrhage; Hemorrhagic stroke\n'}


{'id': 'HP_0001343', 'url': 'http://purl.obolibrary.org/obo/HP_0001343', 'lbl': 'Kernicterus', 'desc': 'label: Kernicterus\ndefinition : Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.\nsynonyms :\n'}


{'id': 'HP_0001344', 'url': 'http://purl.obolibrary.org/obo/HP_0001344', 'lbl': 'Absent speech', 'desc': 'label: Absent speech\ndefinition : Complete lack of development of speech and language abilities.\nsynonyms :Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal\n'}


{'id': 'HP_0001345', 'url': 'http://purl.obolibrary.org/obo/HP_0001345', 'lbl': 'Psychotic mentation', 'desc': 'label: Psychotic mentation\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001347', 'url': 'http://purl.obolibrary.org/obo/HP_0001347', 'lbl': 'Hyperreflexia', 'desc': 'label: Hyperreflexia\ndefinition : Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.\nsynonyms :Increased deep tendon reflexes; Increased reflexes\n'}


{'id': 'HP_0001348', 'url': 'http://purl.obolibrary.org/obo/HP_0001348', 'lbl': 'Brisk reflexes', 'desc': 'label: Brisk reflexes\ndefinition : Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.\nsynonyms :Brisk deep tendon reflexes\n'}


{'id': 'HP_0001349', 'url': 'http://purl.obolibrary.org/obo/HP_0001349', 'lbl': 'Facial diplegia', 'desc': 'label: Facial diplegia\ndefinition : Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).\nsynonyms :Bilateral facial weakness; Facial paresis, bilateral\n'}


{'id': 'HP_0001350', 'url': 'http://purl.obolibrary.org/obo/HP_0001350', 'lbl': 'Slurred speech', 'desc': 'label: Slurred speech\ndefinition : Abnormal coordination of muscles involved in speech.\nsynonyms :Slurred speech\n'}


{'id': 'HP_0001351', 'url': 'http://purl.obolibrary.org/obo/HP_0001351', 'lbl': 'Jerk-locked premyoclonus spikes', 'desc': 'label: Jerk-locked premyoclonus spikes\ndefinition : Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.\nsynonyms :\n'}


{'id': 'HP_0001355', 'url': 'http://purl.obolibrary.org/obo/HP_0001355', 'lbl': 'Megalencephaly', 'desc': 'label: Megalencephaly\ndefinition : Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).\nsynonyms :Enlarged brain; Macrencephaly\n'}


{'id': 'HP_0001357', 'url': 'http://purl.obolibrary.org/obo/HP_0001357', 'lbl': 'Plagiocephaly', 'desc': 'label: Plagiocephaly\ndefinition : Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.\nsynonyms :Asymmetry of the posterior cranium; Asymmetry of the posterior head; Asymmetry of the posterior skull; Flat head; Rhomboid shaped head; Flat head syndrome; Flattening of cranial vault; Flattening of cranium; Flattening of skull; Rhomboid shaped cranium; Rhomboid shaped skull; Deformational plagiocephaly; Flattening of head; Positional plagiocephaly\n'}


{'id': 'HP_0001360', 'url': 'http://purl.obolibrary.org/obo/HP_0001360', 'lbl': 'Holoprosencephaly', 'desc': 'label: Holoprosencephaly\ndefinition : Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.\nsynonyms :Single brain ventricle\n'}


{'id': 'HP_0001361', 'url': 'http://purl.obolibrary.org/obo/HP_0001361', 'lbl': 'Nystagmus-induced head nodding', 'desc': 'label: Nystagmus-induced head nodding\ndefinition : Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.\nsynonyms :\n'}


{'id': 'HP_0001362', 'url': 'http://purl.obolibrary.org/obo/HP_0001362', 'lbl': 'Calvarial skull defect', 'desc': 'label: Calvarial skull defect\ndefinition : A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.\nsynonyms :Cranial defect; Skull defect; Calvarial defect\n'}


{'id': 'HP_0001363', 'url': 'http://purl.obolibrary.org/obo/HP_0001363', 'lbl': 'Craniosynostosis', 'desc': 'label: Craniosynostosis\ndefinition : Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.\nsynonyms :Deformity of the skull; Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature fontanel closure; Premature suture closure; Craniostenosis\n'}


{'id': 'HP_0001367', 'url': 'http://purl.obolibrary.org/obo/HP_0001367', 'lbl': 'Abnormal joint morphology', 'desc': 'label: Abnormal joint morphology\ndefinition : An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.\nsynonyms :Abnormal shape of joints; Abnormality of the joints; Anomaly of the joints; Joint disease\n'}


{'id': 'HP_0001369', 'url': 'http://purl.obolibrary.org/obo/HP_0001369', 'lbl': 'Arthritis', 'desc': 'label: Arthritis\ndefinition : Inflammation of a joint.\nsynonyms :Arthritis; Joint inflammation\n'}


{'id': 'HP_0001370', 'url': 'http://purl.obolibrary.org/obo/HP_0001370', 'lbl': 'Rheumatoid arthritis', 'desc': 'label: Rheumatoid arthritis\ndefinition : Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.\nsynonyms :RA; Rheumatoid arthritis\n'}


{'id': 'HP_0001371', 'url': 'http://purl.obolibrary.org/obo/HP_0001371', 'lbl': 'Flexion contracture', 'desc': 'label: Flexion contracture\ndefinition : A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.\nsynonyms :Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints\n'}


{'id': 'HP_0001373', 'url': 'http://purl.obolibrary.org/obo/HP_0001373', 'lbl': 'Joint dislocation', 'desc': 'label: Joint dislocation\ndefinition : Displacement or malalignment of joints.\nsynonyms :Joint dislocation; Joint dislocations\n'}


{'id': 'HP_0001374', 'url': 'http://purl.obolibrary.org/obo/HP_0001374', 'lbl': 'Congenital hip dislocation', 'desc': 'label: Congenital hip dislocation\ndefinition : \nsynonyms :Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth\n'}


{'id': 'HP_0001376', 'url': 'http://purl.obolibrary.org/obo/HP_0001376', 'lbl': 'Limitation of joint mobility', 'desc': 'label: Limitation of joint mobility\ndefinition : A reduction in the freedom of movement of one or more joints.\nsynonyms :Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion\n'}


{'id': 'HP_0001377', 'url': 'http://purl.obolibrary.org/obo/HP_0001377', 'lbl': 'Limited elbow extension', 'desc': 'label: Limited elbow extension\ndefinition : Limited ability to straighten the arm at the elbow joint.\nsynonyms :Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Restricted elbow extension\n'}


{'id': 'HP_0001379', 'url': 'http://purl.obolibrary.org/obo/HP_0001379', 'lbl': 'obsolete Degenerative joint disease', 'desc': 'label: obsolete Degenerative joint disease\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001380', 'url': 'http://purl.obolibrary.org/obo/HP_0001380', 'lbl': 'obsolete Ligamentous laxity', 'desc': 'label: obsolete Ligamentous laxity\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001382', 'url': 'http://purl.obolibrary.org/obo/HP_0001382', 'lbl': 'Joint hypermobility', 'desc': 'label: Joint hypermobility\ndefinition : The ability of a joint to move beyond its normal range of motion.\nsynonyms :Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility\n'}


{'id': 'HP_0001384', 'url': 'http://purl.obolibrary.org/obo/HP_0001384', 'lbl': 'Abnormal hip joint morphology', 'desc': 'label: Abnormal hip joint morphology\ndefinition : An abnormality of the hip joint.\nsynonyms :Abnormality of the hip joint; Abnormality of the hip joints\n'}


{'id': 'HP_0001385', 'url': 'http://purl.obolibrary.org/obo/HP_0001385', 'lbl': 'Hip dysplasia', 'desc': 'label: Hip dysplasia\ndefinition : The presence of developmental dysplasia of the hip.\nsynonyms :Abnormal formation of the hip; Congenital hip dysplasia\n'}


{'id': 'HP_0001386', 'url': 'http://purl.obolibrary.org/obo/HP_0001386', 'lbl': 'Joint swelling', 'desc': 'label: Joint swelling\ndefinition : \nsynonyms :Joint swelling\n'}


{'id': 'HP_0001387', 'url': 'http://purl.obolibrary.org/obo/HP_0001387', 'lbl': 'Joint stiffness', 'desc': 'label: Joint stiffness\ndefinition : Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.\nsynonyms :Joint stiffness; Stiff joint; Stiff joints\n'}


{'id': 'HP_0001388', 'url': 'http://purl.obolibrary.org/obo/HP_0001388', 'lbl': 'Joint laxity', 'desc': 'label: Joint laxity\ndefinition : Lack of stability of a joint.\nsynonyms :Hyperlaxity; Joint instability; Joint ligamentous laxity; Lax joints; Ligamentous laxity; Loose-jointedness; Loosejointedness\n'}


{'id': 'HP_0001392', 'url': 'http://purl.obolibrary.org/obo/HP_0001392', 'lbl': 'Abnormality of the liver', 'desc': 'label: Abnormality of the liver\ndefinition : An abnormality of the liver.\nsynonyms :Abnormal liver; Abnormality of the liver; Liver abnormality; Liver disease\n'}


{'id': 'HP_0001394', 'url': 'http://purl.obolibrary.org/obo/HP_0001394', 'lbl': 'Cirrhosis', 'desc': 'label: Cirrhosis\ndefinition : A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.\nsynonyms :Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver; Liver cirrhosis\n'}


{'id': 'HP_0001395', 'url': 'http://purl.obolibrary.org/obo/HP_0001395', 'lbl': 'Hepatic fibrosis', 'desc': 'label: Hepatic fibrosis\ndefinition : The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.\nsynonyms :Liver fibrosis\n'}


{'id': 'HP_0001396', 'url': 'http://purl.obolibrary.org/obo/HP_0001396', 'lbl': 'Cholestasis', 'desc': 'label: Cholestasis\ndefinition : Impairment of bile flow due to obstruction in bile ducts.\nsynonyms :Slowed or blocked flow of bile from liver\n'}


{'id': 'HP_0001397', 'url': 'http://purl.obolibrary.org/obo/HP_0001397', 'lbl': 'Hepatic steatosis', 'desc': 'label: Hepatic steatosis\ndefinition : Steatosis is a term used to denote lipid accumulation within hepatocytes.\nsynonyms :Fatty infiltration of liver; Fatty liver; Liver steatosis; Steatosis\n'}


{'id': 'HP_0001399', 'url': 'http://purl.obolibrary.org/obo/HP_0001399', 'lbl': 'Hepatic failure', 'desc': 'label: Hepatic failure\ndefinition : \nsynonyms :Liver failure\n'}


{'id': 'HP_0001400', 'url': 'http://purl.obolibrary.org/obo/HP_0001400', 'lbl': 'obsolete Hepatic abscesses due to immunodeficiency', 'desc': 'label: obsolete Hepatic abscesses due to immunodeficiency\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001401', 'url': 'http://purl.obolibrary.org/obo/HP_0001401', 'lbl': 'Intrahepatic biliary dysgenesis', 'desc': 'label: Intrahepatic biliary dysgenesis\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001402', 'url': 'http://purl.obolibrary.org/obo/HP_0001402', 'lbl': 'Hepatocellular carcinoma', 'desc': 'label: Hepatocellular carcinoma\ndefinition : A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.\nsynonyms :Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma\n'}


{'id': 'HP_0001403', 'url': 'http://purl.obolibrary.org/obo/HP_0001403', 'lbl': 'Macrovesicular hepatic steatosis', 'desc': 'label: Macrovesicular hepatic steatosis\ndefinition : A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.\nsynonyms :Macrovesicular steatosis\n'}


{'id': 'HP_0001404', 'url': 'http://purl.obolibrary.org/obo/HP_0001404', 'lbl': 'Hepatocellular necrosis', 'desc': 'label: Hepatocellular necrosis\ndefinition : \nsynonyms :Death of liver cells; Hepatocellular loss\n'}


{'id': 'HP_0001405', 'url': 'http://purl.obolibrary.org/obo/HP_0001405', 'lbl': 'Periportal fibrosis', 'desc': 'label: Periportal fibrosis\ndefinition : The presence of fibrosis affecting the interlobular stroma of liver.\nsynonyms :\n'}


{'id': 'HP_0001406', 'url': 'http://purl.obolibrary.org/obo/HP_0001406', 'lbl': 'Intrahepatic cholestasis', 'desc': 'label: Intrahepatic cholestasis\ndefinition : Impairment of bile flow due to obstruction in the small bile ducts within the liver.\nsynonyms :Impaired release of bile from liver\n'}


{'id': 'HP_0001407', 'url': 'http://purl.obolibrary.org/obo/HP_0001407', 'lbl': 'Hepatic cysts', 'desc': 'label: Hepatic cysts\ndefinition : \nsynonyms :Liver cysts\n'}


{'id': 'HP_0001408', 'url': 'http://purl.obolibrary.org/obo/HP_0001408', 'lbl': 'Bile duct proliferation', 'desc': 'label: Bile duct proliferation\ndefinition : Proliferative changes of the bile ducts.\nsynonyms :Proliferation of bile canaliculi\n'}


{'id': 'HP_0001409', 'url': 'http://purl.obolibrary.org/obo/HP_0001409', 'lbl': 'Portal hypertension', 'desc': 'label: Portal hypertension\ndefinition : Increased pressure in the portal vein.\nsynonyms :\n'}


{'id': 'HP_0001410', 'url': 'http://purl.obolibrary.org/obo/HP_0001410', 'lbl': 'Decreased liver function', 'desc': 'label: Decreased liver function\ndefinition : Reduced ability of the liver to perform its functions.\nsynonyms :Decreased liver function; Liver dysfunction; Hepatopathy; Liver dysfunction, mild\n'}


{'id': 'HP_0001412', 'url': 'http://purl.obolibrary.org/obo/HP_0001412', 'lbl': 'Enteroviral hepatitis', 'desc': 'label: Enteroviral hepatitis\ndefinition : Inflammation of the liver due to infection with enterovirus.\nsynonyms :\n'}


{'id': 'HP_0001413', 'url': 'http://purl.obolibrary.org/obo/HP_0001413', 'lbl': 'Micronodular cirrhosis', 'desc': 'label: Micronodular cirrhosis\ndefinition : A type of cirrhosis characterized by the presence of small regenerative nodules.\nsynonyms :\n'}


{'id': 'HP_0001414', 'url': 'http://purl.obolibrary.org/obo/HP_0001414', 'lbl': 'Microvesicular hepatic steatosis', 'desc': 'label: Microvesicular hepatic steatosis\ndefinition : A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.\nsynonyms :Microvesicular steatosis\n'}


{'id': 'HP_0001417', 'url': 'http://purl.obolibrary.org/obo/HP_0001417', 'lbl': 'X-linked inheritance', 'desc': 'label: X-linked inheritance\ndefinition : A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.\nsynonyms :X-linked; monoallelic_X_hemizygous; X-linked form\n'}


{'id': 'HP_0001419', 'url': 'http://purl.obolibrary.org/obo/HP_0001419', 'lbl': 'X-linked recessive inheritance', 'desc': 'label: X-linked recessive inheritance\ndefinition : A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.\nsynonyms :X-linked recessive\n'}


{'id': 'HP_0001421', 'url': 'http://purl.obolibrary.org/obo/HP_0001421', 'lbl': 'Abnormality of the musculature of the hand', 'desc': 'label: Abnormality of the musculature of the hand\ndefinition : \nsynonyms :Abnormal hand muscles\n'}


{'id': 'HP_0001423', 'url': 'http://purl.obolibrary.org/obo/HP_0001423', 'lbl': 'X-linked dominant inheritance', 'desc': 'label: X-linked dominant inheritance\ndefinition : A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.\nsynonyms :X-linked dominant\n'}


{'id': 'HP_0001425', 'url': 'http://purl.obolibrary.org/obo/HP_0001425', 'lbl': 'obsolete Heterogeneous', 'desc': 'label: obsolete Heterogeneous\ndefinition : \nsynonyms :Genetic heterogeneity\n'}


{'id': 'HP_0001426', 'url': 'http://purl.obolibrary.org/obo/HP_0001426', 'lbl': 'Multifactorial inheritance', 'desc': 'label: Multifactorial inheritance\ndefinition : A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.\nsynonyms :Familial predisposition\n'}


{'id': 'HP_0001427', 'url': 'http://purl.obolibrary.org/obo/HP_0001427', 'lbl': 'Mitochondrial inheritance', 'desc': 'label: Mitochondrial inheritance\ndefinition : A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).\nsynonyms :Mitochondrial; mitochondrial\n'}


{'id': 'HP_0001428', 'url': 'http://purl.obolibrary.org/obo/HP_0001428', 'lbl': 'Somatic mutation', 'desc': 'label: Somatic mutation\ndefinition : A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.\nsynonyms :\n'}


{'id': 'HP_0001430', 'url': 'http://purl.obolibrary.org/obo/HP_0001430', 'lbl': 'Abnormality of the calf musculature', 'desc': 'label: Abnormality of the calf musculature\ndefinition : \nsynonyms :Abnormal calf muscles; Abnormality of calf musculature\n'}


{'id': 'HP_0001433', 'url': 'http://purl.obolibrary.org/obo/HP_0001433', 'lbl': 'Hepatosplenomegaly', 'desc': 'label: Hepatosplenomegaly\ndefinition : Simultaneous enlargement of the liver and spleen.\nsynonyms :Enlarged liver and spleen\n'}


{'id': 'HP_0001435', 'url': 'http://purl.obolibrary.org/obo/HP_0001435', 'lbl': 'Abnormality of the shoulder girdle musculature', 'desc': 'label: Abnormality of the shoulder girdle musculature\ndefinition : \nsynonyms :Abnormality of shoulder musculature\n'}


{'id': 'HP_0001436', 'url': 'http://purl.obolibrary.org/obo/HP_0001436', 'lbl': 'Abnormality of the foot musculature', 'desc': 'label: Abnormality of the foot musculature\ndefinition : An anomaly of the musculature of foot.\nsynonyms :Abnormal foot muscles\n'}


{'id': 'HP_0001437', 'url': 'http://purl.obolibrary.org/obo/HP_0001437', 'lbl': 'Abnormality of the musculature of the lower limbs', 'desc': 'label: Abnormality of the musculature of the lower limbs\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001438', 'url': 'http://purl.obolibrary.org/obo/HP_0001438', 'lbl': 'Abnormal abdomen morphology', 'desc': "label: Abnormal abdomen morphology\ndefinition : A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.\nsynonyms :Abnormality of abdomen morphology; Abnormality of abdomen structure; Abnormality of the abdomen; Abdomen abnormality\n"}


{'id': 'HP_0001440', 'url': 'http://purl.obolibrary.org/obo/HP_0001440', 'lbl': 'Metatarsal synostosis', 'desc': 'label: Metatarsal synostosis\ndefinition : \nsynonyms :Fusion of metatarsals; Fusion of the long bones of the feet; Synostosis involving metatarsal bones\n'}


{'id': 'HP_0001441', 'url': 'http://purl.obolibrary.org/obo/HP_0001441', 'lbl': 'Abnormality of the musculature of the thigh', 'desc': 'label: Abnormality of the musculature of the thigh\ndefinition : \nsynonyms :Abnormal thigh muscles\n'}


{'id': 'HP_0001442', 'url': 'http://purl.obolibrary.org/obo/HP_0001442', 'lbl': 'Somatic mosaicism', 'desc': 'label: Somatic mosaicism\ndefinition : The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.\nsynonyms :\n'}


{'id': 'HP_0001443', 'url': 'http://purl.obolibrary.org/obo/HP_0001443', 'lbl': 'Abnormality of the gluteal musculature', 'desc': 'label: Abnormality of the gluteal musculature\ndefinition : \nsynonyms :Abnormality of glutes\n'}


{'id': 'HP_0001444', 'url': 'http://purl.obolibrary.org/obo/HP_0001444', 'lbl': 'Autosomal dominant somatic cell mutation', 'desc': 'label: Autosomal dominant somatic cell mutation\ndefinition : Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.\nsynonyms :\n'}


{'id': 'HP_0001445', 'url': 'http://purl.obolibrary.org/obo/HP_0001445', 'lbl': 'Abnormality of the hip-girdle musculature', 'desc': 'label: Abnormality of the hip-girdle musculature\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001446', 'url': 'http://purl.obolibrary.org/obo/HP_0001446', 'lbl': 'Abnormality of the musculature of the upper limbs', 'desc': 'label: Abnormality of the musculature of the upper limbs\ndefinition : \nsynonyms :Abnormal upper limb muscles\n'}


{'id': 'HP_0001449', 'url': 'http://purl.obolibrary.org/obo/HP_0001449', 'lbl': 'Duplication of metatarsal bones', 'desc': 'label: Duplication of metatarsal bones\ndefinition : \nsynonyms :Duplication of long bones of foot\n'}


{'id': 'HP_0001450', 'url': 'http://purl.obolibrary.org/obo/HP_0001450', 'lbl': 'Y-linked inheritance', 'desc': 'label: Y-linked inheritance\ndefinition : A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.\nsynonyms :Y-linked; monoallelic_Y_hemizygous\n'}


{'id': 'HP_0001452', 'url': 'http://purl.obolibrary.org/obo/HP_0001452', 'lbl': 'obsolete Autosomal dominant contiguous gene syndrome', 'desc': 'label: obsolete Autosomal dominant contiguous gene syndrome\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001454', 'url': 'http://purl.obolibrary.org/obo/HP_0001454', 'lbl': 'Abnormality of the upper arm', 'desc': 'label: Abnormality of the upper arm\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001457', 'url': 'http://purl.obolibrary.org/obo/HP_0001457', 'lbl': 'Abnormality of the musculature of the upper arm', 'desc': 'label: Abnormality of the musculature of the upper arm\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001459', 'url': 'http://purl.obolibrary.org/obo/HP_0001459', 'lbl': '1-3 toe syndactyly', 'desc': 'label: 1-3 toe syndactyly\ndefinition : Syndactyly with fusion of toes one to three.\nsynonyms :Webbed 1st-3rd toes\n'}


{'id': 'HP_0001460', 'url': 'http://purl.obolibrary.org/obo/HP_0001460', 'lbl': 'Aplasia/Hypoplasia involving the skeletal musculature', 'desc': 'label: Aplasia/Hypoplasia involving the skeletal musculature\ndefinition : Absence or underdevelopment of the musculature.\nsynonyms :Absent/small skeletal muscles; Absent/underdeveloped skeletal muscles\n'}


{'id': 'HP_0001464', 'url': 'http://purl.obolibrary.org/obo/HP_0001464', 'lbl': 'Aplasia/Hypoplasia involving the shoulder musculature', 'desc': 'label: Aplasia/Hypoplasia involving the shoulder musculature\ndefinition : Absence or underdevelopment of the muscles of the shoulder.\nsynonyms :Absent/small shoulder muscles; Absent/underdeveloped shoulder muscles\n'}


{'id': 'HP_0001465', 'url': 'http://purl.obolibrary.org/obo/HP_0001465', 'lbl': 'Amyotrophy involving the shoulder musculature', 'desc': 'label: Amyotrophy involving the shoulder musculature\ndefinition : \nsynonyms :Shoulder muscle degeneration; Wasting of shoulder muscles\n'}


{'id': 'HP_0001466', 'url': 'http://purl.obolibrary.org/obo/HP_0001466', 'lbl': 'Contiguous gene syndrome', 'desc': 'label: Contiguous gene syndrome\ndefinition : A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes\nsynonyms :\n'}


{'id': 'HP_0001467', 'url': 'http://purl.obolibrary.org/obo/HP_0001467', 'lbl': 'Aplasia/Hypoplasia involving the musculature of the upper limbs', 'desc': 'label: Aplasia/Hypoplasia involving the musculature of the upper limbs\ndefinition : Absence or underdevelopment of the musculature of the upper limbs.\nsynonyms :Absent/small upper limb muscles; Absent/underdeveloped upper limb muscles\n'}


{'id': 'HP_0001468', 'url': 'http://purl.obolibrary.org/obo/HP_0001468', 'lbl': 'Aplasia/Hypoplasia involving the musculature of the upper arm', 'desc': 'label: Aplasia/Hypoplasia involving the musculature of the upper arm\ndefinition : Absence or underdevelopment of the muscles of the upper arm.\nsynonyms :Absent/small upper arm muscles; Absent/underdeveloped upper arm muscles\n'}


{'id': 'HP_0001469', 'url': 'http://purl.obolibrary.org/obo/HP_0001469', 'lbl': 'Abnormal morphology of the pelvis musculature', 'desc': 'label: Abnormal morphology of the pelvis musculature\ndefinition : \nsynonyms :Abnormality of the musculature of the pelvis\n'}


{'id': 'HP_0001470', 'url': 'http://purl.obolibrary.org/obo/HP_0001470', 'lbl': 'Sex-limited expression', 'desc': 'label: Sex-limited expression\ndefinition : Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.\nsynonyms :\n'}


{'id': 'HP_0001471', 'url': 'http://purl.obolibrary.org/obo/HP_0001471', 'lbl': 'Aplasia/Hypoplasia of the musculature of the pelvis', 'desc': 'label: Aplasia/Hypoplasia of the musculature of the pelvis\ndefinition : \nsynonyms :Absent/small pelvis muscles; Absent/underdeveloped pelvis muscles\n'}


{'id': 'HP_0001472', 'url': 'http://purl.obolibrary.org/obo/HP_0001472', 'lbl': 'obsolete Familial predisposition', 'desc': 'label: obsolete Familial predisposition\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0001473', 'url': 'http://purl.obolibrary.org/obo/HP_0001473', 'lbl': 'Metatarsal osteolysis', 'desc': 'label: Metatarsal osteolysis\ndefinition : Osteolysis involving metatarsal bones.\nsynonyms :Osteolysis involving metatarsal bones\n'}


{'id': 'HP_0001474', 'url': 'http://purl.obolibrary.org/obo/HP_0001474', 'lbl': 'Sclerotic scapulae', 'desc': 'label: Sclerotic scapulae\ndefinition : Increased density of the bony tissue of the scapula.\nsynonyms :\n'}


{'id': 'HP_0001475', 'url': 'http://purl.obolibrary.org/obo/HP_0001475', 'lbl': 'Male-limited expression', 'desc': 'label: Male-limited expression\ndefinition : Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex.\nsynonyms :\n'}


{'id': 'HP_0001476', 'url': 'http://purl.obolibrary.org/obo/HP_0001476', 'lbl': 'Delayed closure of the anterior fontanelle', 'desc': 'label: Delayed closure of the anterior fontanelle\ndefinition : A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.\nsynonyms :Delayed closure of the soft spot on the skull; Late closure of soft spot on the skull; Delayed closure anterior fontanel; Delayed closure of anterior fontanelle; Delayed closure of the bregma sutures; Late closure of anterior fontanelle; Late closure of large anterior fontanel; Late closure of the bregma sutures; Later than typical closing of soft spot of skull; Persistent anterior fontanelle\n'}


{'id': 'HP_0001477', 'url': 'http://purl.obolibrary.org/obo/HP_0001477', 'lbl': 'Compensatory chin elevation', 'desc': 'label: Compensatory chin elevation\ndefinition : A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.\nsynonyms :Compensatory head tilt/chin elevation\n'}