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Oblique Facial Clefting 1An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lObsessive-Compulsive DisorderUnwanted thoughts and repetitive behaviors.Obsessive-Compulsive Personality DisorderA personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency.Obstructive HydrocephalusA hydrocephalus characterized by cerebrospinal fluid obstruction in the ventricular system.Obstructive JaundiceA cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.Obstructive Lung DiseaseA lung disease that is characterized by narrowing of pulmonary airways.Obstructive NephropathyA kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.Obstructive Sleep ApneaA sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousOccipital Horn SyndromeA metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that is cauOccult Macular DystrophyA macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings.Occupational AsthmaAn environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.Occupational Lung DiseaseLung damage caused by workplace dust, fumes, or chemicals.OCDUnwanted thoughts and repetitive behaviors that are hard to control. Tracking your symptoms and connecting with others who understand can help you manage day to day.OchronosisA connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions.Ocular Albinism 1An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and is caused by mutation in the GPR143 genOcular Albinism with Sensorineural DeafnessAn ocular albinism that is characterized by deafness and vestibular dysfunction and is caused by digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene oOcular CancerA sensory system cancer in the eye that is characterized by uncontrolled cellular proliferation in the eye.Ocular HypertensionHigher-than-normal eye pressure without optic nerve damage.Ocular MelanomaA rare cancer of the eye's pigment cells.Ocular Motor Apraxia, Cogan TypeAn eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements.Ocular TuberculosisA tuberculosis that is in some eye, is caused by Mycobacterium tuberculosis, and causes inflamed eyes.Oculoauricular SyndromeA syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particulOculocerebrorenal SyndromeA syndrome that is caused by mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia producOculocutaneous AlbinismA syndrome characterized by abnormal pigmentation of the skin, hair and eyes.Oculocutaneous Albinism Type IAAn oculocutaneous albinism that is caused by an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.Oculocutaneous Albinism Type IBAn oculocutaneous albinism that is caused by an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.Oculocutaneous Albinism Type IIAn oculocutaneous albinism that is caused by an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.Oculocutaneous Albinism Type IIIAn oculocutaneous albinism that is caused by an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.Oculocutaneous Albinism Type IVAn oculocutaneous albinism that is caused by an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.Oculocutaneous Albinism Type VAn oculocutaneous albinism that is caused by an autosomal recessive mutation of the OCA5 gene on chromosome 4q24.Oculocutaneous Albinism Type VIAn oculocutaneous albinism that is caused by an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1.Oculocutaneous Albinism Type VIIAn oculocutaneous albinism that is caused by an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.Oculodentodigital DysplasiaA syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.Oculoectodermal SyndromeAn ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that is caused by somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.Oculoglandular TularemiaA tularemia that causes inflammation of eye and swelling of lymph glands in front of the ear.Oculogyric CrisisA focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.Oculopharyngodistal MyopathyA myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well asOculopharyngodistal Myopathy 1An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia aOculopharyngodistal Myopathy 2An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that is caused by heterozygous trinuOculopharyngodistal Myopathy 3An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that is caused by heterOculopharyngodistal Myopathy 4An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that is caused by heterozygous trinucleotide repeatOesophagostomiasisA parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-rightOgden SyndromeA syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and is caused by X-linked recessive or X-linked dominant mutation in the NAA10 gOguchi Disease-1A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of alOguchi Disease-2A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of alOhdo SyndromeA syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.Ohdo Syndrome, SBBYS VariantA Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that is caused by heterozygous mutation in the KAT6B gene on chromosome 10q22.Ohtahara SyndromeA rare, severe epilepsy syndrome in newborns.Olecranon BursitisA bursitis that is characterized by an inflammation of the bursa, located at the tip of the elbow (olecranon process).Olfactory Nerve DiseaseA brain disease that is characterized by nerve injury in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and causes impaired sense of smell, causes anosmia or loss of smell.OligoasthenoteratozoospermiaA form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of maOligodendroglioma, IDH-Mutant and 1p/19q-Codeleted Grade 2An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).OligohydramniosA placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion.OligomeganephroniaA renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons.OligospermiaA male fertility issue defined as a low sperm concentration in the ejaculate.Oliver-McFarlane SyndromeA syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that is caused by homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.Olivopontocerebellar AtrophyA neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or wOllier DiseaseA syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage ofOmenn SyndromeA severe combined immunodeficiency that is caused by the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failurOmodysplasiaAn osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.Omodysplasia 1An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that is caused by homozygous or compound heterozygousOmodysplasia 2An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that is caused by heterozygous mutationOmphaloceleA physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.Omsk Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Omsk hemorrhagic fever virus (Orthoflavivirus omskense), which is transmitted by Dermacentor and transmitted by Ixodes species of ticks. The infectionOnchocerciasisA filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, whOncocytic Carcinoma of the ThyroidA thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli.O'Nyong-Nyong FeverA viral infectious disease that causes infection in joint, is caused by Onyong-nyong virus (Alphavirus onyong), which is transmitted by Anopheles gambiae, and transmitted by Anopheles funestus mosquitoes. The infection cOophoritisAn ovarian disease that is characterized by inflammation of the ovary.Open-Angle GlaucomaA glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.Ophthalmia NeonatorumA bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge.OphthalmomyiasisA myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain.Opiate DependenceA drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.Opioid AbuseA substance abuse that involves the recurring use of opioid drugs despite negative consequences.Opioid Use DisorderDependence on opioid drugs.OpisthorchiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, dOpitz GBBB SyndromeA syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardOpportunistic Bacterial Infectious DiseaseA bacterial infectious disease that causes infection by bacteria in individuals whose host defense mechanisms have been compromised.Opportunistic MycosisA systemic mycosis that causes fungal infection in human body of immunocompromised individuals, is caused by Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices.Oppositional Defiant DisorderA pattern of angry, defiant behavior in children.Opsoclonus-Myoclonus SyndromeA rare neurological disorder with rapid eye movements.Optic AtrophyAn optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.Optic Atrophy 1An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that is caused by heterozygous mutation in theOptic Atrophy 10An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that is caused by homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.Optic Atrophy 11An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that is caused by homozygous or compounOptic Atrophy 12An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that is caused by heterozygous mutation in the AFG3L2 gene on chromosome 18p11.Optic Atrophy 2An optic atrophy that is caused by variation in a region on chromosome Xp11.4-p11.21.Optic Atrophy 3An optic atrophy characterized by optic atrophy and cataract that is caused by heterozygous mutation in the OPA3 gene on chromosome 19q13.32.Optic Atrophy 4An optic atrophy that is caused by heterozygous mutation in a region on chromosome 18q12.2-q12.3.Optic Atrophy 5An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that is caused by heterozygous of mutation in DNM1LOptic Atrophy 6An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that is caused by homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.Optic Atrophy 7An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that is caused by homozygous or compound heterozygous mutation in the TMEM126A gene oOptic Atrophy 8An optic atrophy characterized by progressive visual loss during the first or second decade of life that is caused by heterozygous mutation in a region on chromosome 16q21-q22.Optic Atrophy 9An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophyOptic Disc Anomalies with Retinal and/or Macular DystrophyA microphthalmia that is caused by homozygous mutation in the SIX6 gene on chromosome 14q23.Optic Nerve DiseaseA cranial nerve disease that is in the optic nerve.Optic NeuritisInflammation of the optic nerve causing vision loss.Optic PapillitisAn optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.Oral CancerCancer of the mouth.Oral CandidiasisA candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.Oral Cavity CancerA gastrointestinal system cancer that is in the oral cavity.Oral Cavity Carcinoma in SituAn in situ carcinoma of the oral cavity that is in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma.Oral Hairy LeukoplakiaA mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus.Oral LeukoedemaA mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edemOral Mucosa LeukoplakiaA mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.Oral RhabdomyosarcomaA rhabdomyosarcoma located in the oral cavity.Oral Squamous Cell CarcinomaAn oral cavity cancer that is caused by squamous cells.Oral Submucous FibrosisA mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.Oral TuberculosisA gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible.Orange AllergyA fruit allergy triggered by Citrus sinensis plant fruit food product.Orbital CancerA bone cancer that is in the area behind the eye and arises from the orbit or secondarily arises from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It causes the eye pushing forward causing aOrbital CellulitisAn acute orbital inflammation that is characterized by painful orbital mass and causes eyelid edema, causes erythema, causes chemiosis, causes proptosis, causes blurred vision, causes headache, causes fever and causes doOrbital DiseaseAn adnexa disease that is in the eye socket.Orbital OsteomyelitisAn acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum.Orbital PeriostitisAn acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit.Orbital TenonitisAn acute orbital inflammation that is characterized by inflammation of the capsule of Tenon.Orbit Alveolar RhabdomyosarcomaAn orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alvOrbit Embryonal RhabdomyosarcomaAn orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.Orbit LymphomaAn orbital cancer that is caused by some lymphocyte.Orbit RhabdomyosarcomaAn orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children.Orbit SarcomaAn orbital cancer that is caused by abnormally proliferating cells derived from embryonic mesoderm.Organic AcidemiaAn amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.Organophosphate-Induced Delayed PolyneuropathyAn inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appearOrgan System Benign NeoplasmA benign neoplasm that is classified by the organ system from which it is arising from.Organ System CancerA cancer that is classified based on the organ it starts in.Ornithine Carbamoyltransferase DeficiencyAn urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.Ornithine Translocase DeficiencyAn amino acid metabolic disorder that is caused by deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood.OrnithosisA primary bacterial infectious disease that causes systemic infection, is caused by Chlamydia psittaci, which is transmitted by inhaling aerosolized dried droppings or transmitted by contact with infected birds. The infeOrofacial CleftA physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.Orofacial Cleft 1An orofacial cleft characterized by autosomal dominant inheritance that is caused by variation in chromosome region 6p24.3.Orofacial Cleft 10An orofacial cleft that is caused by mutation in the SUMO1 gene on chromosome 2q33.Orofacial Cleft 11An orofacial cleft that is caused by heterozygous mutation in the BMP4 gene on chromosome 14q22.Orofacial Cleft 12An orofacial cleft that is caused by variation in the chromosome region 8q24.3.Orofacial Cleft 13An orofacial cleft characterized by autosomal dominant inheritance that is caused by variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.Orofacial Cleft 14An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignmOrofacial Cleft 15An orofacial cleft that is caused by mutation in the DLX4 gene on chromosome 17q21.Orofacial Cleft 2An orofacial cleft that is caused by variation in the chromosome region 2p13.Orofacial Cleft 3An orofacial cleft that is caused by variation in the chromosomal region 19q13.Orofacial Cleft 4An orofacial cleft that is caused by variation in the 4q21-q31 chromosomal region.Orofacial Cleft 5An orofacial cleft that is caused by mutation in the MSX1 gene on chromosome 4p16.Orofacial Cleft 6An orofacial cleft that is caused by variation in an enhancer of the IRF6 gene on chromosome 1q32.Orofacial Cleft 7An orofacial cleft that is caused by by homozygous mutation in the PVRL1 gene on chromosome 11q23.Orofacial Cleft 8An orofacial cleft that is caused by heterozygous mutation in the TP63 gene on chromosome 3q28.Orofacial Cleft 9An orofacial cleft that is caused by variation in the chromosome region 13q33.1-q34.Orofaciodigital SyndromeA syndrome that is characterized by malformations of the face, oral cavity, and digits.Orofaciodigital Syndrome IAn orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, is caused by X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystOrofaciodigital Syndrome IIAn orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydOrofaciodigital Syndrome IIIAn orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and is caused by autosomal recessive inheritance.Orofaciodigital Syndrome IVAn orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, is caused by autosomal recessive inheritance of mutations in the TCTN3Orofaciodigital Syndrome IXAn orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsaOrofaciodigital Syndrome VAn orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and is caused by homozygous mutation in the DDX59 gene on chromosome 1q32.Orofaciodigital Syndrome VIIAn orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and is caused by autosomal dominant inheritance.Orofaciodigital Syndrome VIIIAn orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and is caused by X-linked recessive inheritance.Orofaciodigital Syndrome XAn orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.Orofaciodigital Syndrome XIAn orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and conOrofaciodigital Syndrome XIVAn orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hOrofaciodigital Syndrome XIXAn orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies tOrofaciodigital Syndrome XVIAn orofaciodigital syndrome that is caused by homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.Orofaciodigital Syndrome XVIIAn orofaciodigital syndrome that is caused by homozygous mutation in the INTU gene on chromosome 4q28.Orofaciodigital Syndrome XVIIIAn orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that is causedOrofaciodigital Syndrome XXAn orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that is caused by homozOromandibular DystoniaA focal dystonia that is characterized by distortions of the mouth and tongue.Oropharyngeal AnthraxA gastrointestinal anthrax that results in infection located in mucosa of oropharynx, is caused by Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has syOropharyngeal Squamous Cell CarcinomaAn oropharynx cancer that arises from squamous epithelial cells.Oropharynx CancerA pharynx cancer that is in the oropharynx.Oropouche FeverA viral infectious disease that results in infection, is caused by Oropouche virus (Orthobunyavirus oropoucheense), which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptomOrotic AciduriaA pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.Osgood-Schlatter'S DiseaseA bone inflammation disease that involves rupture of the growth plate in children in tibia.Osmotic DiarrheaA dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. OsmOssification of the Posterior Longitudinal Ligament of SpineA connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia.Ossifying FibromaA bone benign neoplasm that is in the mouth and causes an overgrowth of gingival tissue due to irritation or trauma.Osteitis FibrosaA bone resorption disease that is caused by hyperparathyroidism which causes hyperactivity in osteoclasts, deformity, and loss of mass in bone.OsteoarthritisJoint pain, mobility, and arthritis self-management communityOsteoarthritis of the HipCartilage loss in the hip joint.Osteoarthritis of the KneeCartilage loss in the knee joint.OsteoblastomaA bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas.Osteochondritis DissecansAn ischemic bone disease that causes necrosis in epiphysis.OsteochondrodysplasiaA bone development disease that causes defective development of cartilage or bone.OsteochondrosisAn ischemic bone disease that causes necrosis followed by regrowth in children and teens in bone.Osteogenesis ImperfectaA genetic condition causing fragile bones.Osteogenesis Imperfecta Type 1An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and is caused by dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.Osteogenesis Imperfecta Type 10An osteogenesis imperfecta that is caused by mutation in the SERPINH gene on chromosome 11q13.Osteogenesis Imperfecta Type 11An osteogenesis imperfecta that is caused by mutation in the FKBP10 gene on chromosome 17q21.Osteogenesis Imperfecta Type 12An osteogenesis imperfecta that is caused by mutation in the SP7 gene on chromosome 12q13.Osteogenesis Imperfecta Type 13An osteogenesis imperfecta that is caused by mutation in the BMP1 gene on chromosome 8p21.Osteogenesis Imperfecta Type 14An osteogenesis imperfecta that is caused by mutation in the TMEM38B gene on chromosome 9q31.Osteogenesis Imperfecta Type 15An osteogenesis imperfecta that is caused by mutation in the WNT1 gene on chromosome 12q13.Osteogenesis Imperfecta Type 16An osteogenesis imperfecta that is caused by contiguous gene deletion on chromosome 11p11.Osteogenesis Imperfecta Type 17An osteogenesis imperfecta that is caused by mutation in the SPARC gene on chromosome 5q33.Osteogenesis Imperfecta Type 18An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that is caused by homozygous or compoundOsteogenesis Imperfecta Type 19An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia thatOsteogenesis Imperfecta Type 2An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and is caused by dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3Osteogenesis Imperfecta Type 20An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that is caused by homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.Osteogenesis Imperfecta Type 21An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that is caused by homozygous or compound heterozygous mutation in KDELR2 oOsteogenesis Imperfecta Type 3An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and is caused by mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.Osteogenesis Imperfecta Type 4An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and is caused by dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.Osteogenesis Imperfecta Type 5An osteogenesis imperfecta that is caused by mutation in the IFITM5 gene on chromosome 11p15.Osteogenesis Imperfecta Type 6An osteogenesis imperfecta that is caused by mutation in the SERPINF1 gene on chromosome 17p13.3.Osteogenesis Imperfecta Type 7An osteogenesis imperfecta that is caused by mutation in the CRTAP gene on chromosome 3p22.Osteogenesis Imperfecta Type 8An osteogenesis imperfecta that is caused by mutation in the P3H1 gene on chromosome 1p34.2.Osteogenesis Imperfecta Type 9An osteogenesis imperfecta that is caused by mutation in the PPIB gene on chromosome 15q22.Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones But Without FracturesAn osteogenesis imperfecta found in a single South African family.Osteoglophonic DysplasiaAn osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that is caused by heterozygouOsteomalaciaA bone remodeling disease that is caused by a vitamin D deficiency which causes softening in bone.OsteomyelitisA bone infection.OsteonecrosisAn ischemic bone disease that causes necrosis in bone.Osteopathia Striata with Cranial SclerosisAn osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethalityOsteopeniaBone density is lower than normal but not yet osteoporosis.OsteopetrosisAn osteosclerosis that is caused by lack of bone resorption which causes abnormally hard and brittle bones.OsteopoikilosisAn osteosclerosis that causes numerous bone islands in skeleton.OsteoporosisBones become weak and more likely to break. Tracking your symptoms and connecting with others who understand can help you manage day to day.Osteoporosis-Pseudoglioma SyndromeA syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that isOsteosarcomaA bone cancer that often affects teens.OsteosclerosisA bone remodeling disease that causes abnormal elevated bone density or mass.Osteosclerotic Metaphyseal DysplasiaA metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that is caused by homozygous mutation in the LRROstertagiasisA trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia.Otitis ExternaInflammation of the outer ear canal, also called swimmer's ear.Otitis InternaAn inner ear disease which involves inflammation of the inner ear.Otitis MediaMiddle ear infection, common in children.OtomycosisAn otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are AspeOtopalatodigital Syndrome Spectrum DisorderA bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulationOtopalatodigital Syndrome Type 1An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that is caused by heterozygous or hOtopalatodigital Syndrome Type 2An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males anOtorrheaAn auditory system disease that is characterized by the discharge or drainage of fluid from the ear.OtosalpingitisA eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of theOtosclerosisAn otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.Otosclerosis 1An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that is caused by the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1.Otosclerosis 10An otosclerosis that is caused by the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44.Otosclerosis 11An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that is caused by the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24.Otosclerosis 2An otosclerosis that is caused by the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q.Otosclerosis 3An otosclerosis that is caused by the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p.Otosclerosis 4An otosclerosis that is caused by the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q.Otosclerosis 5An otosclerosis that is characterized by conductive hearing impairment and that is caused by the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24.Otosclerosis 7An otosclerosis that is caused by the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13.Otosclerosis 8An otosclerosis that is caused by the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11.Otospondylomegaepiphyseal Dysplasia, Autosomal DominantAn osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.Otospondylomegaepiphyseal Dysplasia, Autosomal RecessiveAn osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which causes enlargement of the in epiphysis in in hand and in foot, distinct facial features, platyspOvarian AngiosarcomaAn ovary sarcoma that is a malignant vascular tumor that arises from blood vessels.Ovarian Benign NeoplasmA female reproductive organ benign neoplasm that is in the ovary.Ovarian Biphasic or Triphasic TeratomaAn ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.Ovarian Brenner TumorAn ovarian benign neoplasm that is caused by the surface epithelium of the ovary.Ovarian CancerCancer that starts in the ovaries. Tracking your symptoms and connecting with others who understand can help you manage day to day.Ovarian CarcinomaAn ovarian cancer that is caused by epithelial tissue and is in the ovary.Ovarian CarcinosarcomaA malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that is caused by carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.Ovarian Clear Cell AdenocarcinomaA ovarian adenocarcinoma that arises from epithelial cells which have clear cytoplasm.Ovarian Clear Cell AdenofibromaAn ovarian benign neoplasm that is characterized by the presence of serous fluid and is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Ovarian Clear Cell CarcinomaAn ovarian carcinoma that is caused by cells with clear cytoplasm and glycogen secreting hob nail cells.Ovarian Clear Cell CystadenocarcinomaAn ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm.Ovarian Clear Cell CystadenofibromaAn ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces.Ovarian Clear Cell Malignant AdenofibromaAn ovarian cancer that is characterized by low beta-hCG levels and is is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Ovarian CystAn ovarian disease that is characterized by the presence of a fluid-filled sac and is in the ovary.Ovarian CystadenocarcinomaAn ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces.Ovarian CystadenomaAn ovarian benign neoplasm that is caused by glandular epithelial tissue in which cystic accumulations of retained secretions are formed.Ovarian Cystic TeratomaA cystic teratoma that is in the ovary.Ovarian DiseaseA female reproductive system disease that is in the ovary.Ovarian DysfunctionAn ovarian disease that is characterized by irregular or absent ovulation.Ovarian Dysgenesis 1A 46 XX gonadal dysgenesis that is caused by homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16.Ovarian Dysgenesis 10A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that is caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12.Ovarian Dysgenesis 2A 46 XX gonadal dysgenesis that is caused by mutation in the BMP15 gene on chromosome Xp11.Ovarian Dysgenesis 3A 46 XX gonadal dysgenesis that is caused by homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.Ovarian Dysgenesis 4A 46 XX gonadal dysgenesis that is caused by homozygous mutation in the MCM9 gene on chromosome 6q22.Ovarian Dysgenesis 5A 46 XX gonadal dysgenesis that is caused by homozygous mutation in the SOHLH1 gene on chromosome 9q34.Ovarian Dysgenesis 6A 46 XX gonadal dysgenesis that is caused by homozygous mutation in the NUP107 gene on chromosome 12q15.Ovarian Dysgenesis 7A 46 XX gonadal dysgenesis that is caused by homozygous mutation in the MRPS22 gene on chromosome 3q23.Ovarian Dysgenesis 8A 46 XX gonadal dysgenesis that is caused by heterozygous mutation in the ESR2 gene on chromosome 14q23.Ovarian Dysgenesis 9A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that is caused by homozygous mutation in the SPIDOvarian Embryonal CarcinomaAn embryonal carcinoma that is in the ovary.Ovarian Endodermal Sinus TumorAn ovarian primitive germ cell tumor that is caused by cells that line the yolk sac of the embryo.Ovarian Endometrial CancerAn ovary epithelial cancer that is caused by the endometrium and is in the ovary.Ovarian Endometrioid AdenofibromaAn ovarian benign neoplasm that is is caused by glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue.Ovarian Endometrioid CystadenofibromaAn ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces.Ovarian Endometrioid CystadenomaAn ovarian cystadenoma that is characterized by the presence of endometrial tissue.Ovarian Endometrioid Stromal SarcomaAn ovary sarcoma that arises from endometrial stromal tissue.Ovarian Fetiform TeratomaA mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed.Ovarian Germ Cell CancerAn ovarian cancer that originates in the germ (egg) cells of the ovary.Ovarian Germ Cell Monodermal and Highly Specialized TeratomaA monodermal teratoma that is caused by germ cells that are highly specialized and is in the ovary.Ovarian GonadoblastomaAn ovarian benign neoplasm that is is caused by a mixture of gonadal elements.Ovarian Hyperstimulation SyndromeAn ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and causes abdominal pain, causes nausea and causes vomiting. This disease is an iOvarian Large-Cell Neuroendocrine CarcinomaAn ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and is caused by neuroendocrine cells.Ovarian LymphomaAn ovarian cancer that arises from lymphocytes.Ovarian Malignant MesotheliomaAn ovarian cancer that arises from mesothelial tissue.Ovarian MelanomaAn ovarian cancer that is caused by melanoctyes.Ovarian Mesodermal AdenosarcomaAn ovarian carcinosarcoma that arises from simultaneously or consecutively in mesodermal tissue and glandular epithelium.Ovarian Mixed Germ Cell NeoplasmAn ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components.Ovarian Mucinous AdenocarcinomaAn ovary adenocarcinoma that is characterized by the presence of mucin.Ovarian Mucinous AdenofibromaAn ovarian benign neoplasm that is characterized by low beta-hCG levels and is is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Ovarian Mucinous CystadenocarcinomaAn ovarian cystadenocarcinoma that is characterized by the presence of mucin.Ovarian Mucinous CystadenofibromaAn ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces.Ovarian Mucinous Malignant AdenofibromaAn ovarian mucinous neoplasm that is cancerous and that is is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Ovarian Mucinous NeoplasmAn ovary epithelial cancer that is characterized by the presence of mucin.Ovarian Papillary CystadenomaAn ovarian cystadenoma that is characterized by the presence of finger-like projections.Ovarian Papillary NeoplasmAn ovary epithelial cancer that is characterized by the presence of finger-like projections on histology.Ovarian Primitive Germ Cell TumorA malignant ovarian germ cell neoplasm that is caused by primitive germ cells.Ovarian Seromucinous CarcinomaAn ovarian carcinoma that is biphasic and is caused by epithelial and mesenchymal elements.Ovarian Serous AdenofibromaAn ovarian benign neoplasm that is caused by glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.Ovarian Serous CarcinomaAn ovarian carcinoma that is caused by the lining of the ovary and produces a serum-like fluid.Ovarian Serous CystadenocarcinomaAn ovary serous adenocarcinoma that is caused by glandular epithelium, in which cystic accumulations of retained secretions are formed.Ovarian Serous CystadenofibromaAn ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces.Ovarian Sex Cord-Stromal Benign NeoplasmA sex cord-stromal benign neoplasm that arises from the ovary.Ovarian Sex-Cord Stromal TumorA sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.Ovarian Small Cell CarcinomaAn ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells.Ovarian Solid TeratomaA mature teratoma of the ovary that is predominantly solid with interspersed cysts.Ovarian Squamous Cell CarcinomaAn ovarian carcinoma that arises from squamous epithelial cells.Ovarian Stromal HyperthecosisAn ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowlOvarian Surface PapillomaAn ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary.Ovarian Wilms' CancerA malignant neoplasm of ovary and nephroblastoma that is in the ovaries.Ovary AdenocarcinomaAn ovarian carcinoma that arises from epithelial cells of glandular origin.Ovary Epithelial CancerAn ovarian cancer that is arises from ovarian surface epithelium.Ovary LeiomyosarcomaAn ovary sarcoma that arises from smooth muscle progenitors.Ovary Neuroendocrine NeoplasmAn ovarian cancer that is caused by nuroendocrine cells.Ovary Papillary CarcinomaAn ovarian carcinoma that is caused by abnormally proliferating cells and arises from epithelial cells.Ovary RhabdomyosarcomaAn ovary sarcoma that arises from skeletal muscle progenitors.Ovary SarcomaAn ovarian cancer that is caused by abnormally proliferating cells arises from embryonic mesoderm.Ovary Serous AdenocarcinomaAn ovary adenocarcinoma that arises from the lining of a cavity that produces a serum-like fluid (a serous cavity).Ovary Transitional Cell CarcinomaAn ovarian epithelial cancer that arises from epithelial transitional cells.Overactive BladderA sudden, frequent urge to urinate.Overactive Bladder SyndromeA bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.Overhydrated Hereditary StomatocytosisA macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that is caused by heterozygous mutation in the RHAG gene on chromosome 6p12.3.OvernutritionA nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content.Oxirane AllergyA drug allergy that triggered by oxirane.Oxoglutarate Dehydrogenase DeficiencyAn amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that is caused by homozygousOxyphilic Endometrial Endometrioid AdenocarcinomaAn endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells.
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