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A53 Diffuse Large B-Cell LymphomaA diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.Aagenaes SyndromeA syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with f Aarskog SyndromeA syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature.Abacavir AllergyA drug allergy that triggered by abacavir.ABCD SyndromeA syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and is caused by a mutation in the endothelin B receptor gene (EDNRB).Abdominal Aortic AneurysmA bulge in the main artery of the abdomen that can rupture without warning.Abdominal Obesity-Metabolic SyndromeA syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.Abdominal Obesity-Metabolic Syndrome 1An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and Abdominal Obesity-Metabolic Syndrome 3An abdominal obesity-metabolic syndrome that is caused by heterozygous mutation in the DYRK1B gene on chromosome 19q13.Abdominal Obesity-Metabolic Syndrome 4An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that is caused by heterozygous mutation in the CELA2A gene on chromosome 1p36.Abdominal TuberculosisAn extrapulmonary tuberculosis that is in gastrointestinal tract, in peritoneum, in omentum, in mesentery, in liver, in spleen or in pancreas.Abducens Nerve PalsyA cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve.AbetalipoproteinemiaA hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, is caused by an autosomal recessive disorder of lipid metabolism that is caused by mutation Ablepharon Macrostomia SyndromeA syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmenta Abruzzo-Erickson SyndromeA syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that is caused by hemizygous mutation in the TBX22 gene on chromosome Xq21.1.Absence EpilepsyA type of epilepsy with brief staring spells.Absolute GlaucomaA glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance.Acalculous CholecystitisA cholecystitis characterized by the absence of gallstones.AcanthocephaliasisA parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection causes abdominal pain, causes distension Acantholytic Variant Squamous Cell Breast CarcinomaA breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance.Acanthosis NigricansA pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.AcatalasiaA peroxisomal disease characterized by loss of catalase activity in erythrocytes that is caused by homozygous mutation in the CAT gene on chromosome 11p13.Accessory Nerve DiseaseA glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).AceruloplasminemiaAn iron metabolism disease that is caused by a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.AchalasiaAn esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.Achalasia Microcephaly SyndromeA syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory i Achard SyndromeA syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.AcheiropodyAn osteochondrodysplasia characterized by a lack of formation of the distal extremities is caused by mutation in the LMBR1 gene.AchondrogenesisAn osteochondrodysplasia that is caused by deficient endochondral ossification which causes dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in uter Achondrogenesis Type IAAn achondrogenesis that causes abnormal ossification of the in vertebral column or in spine.Achondrogenesis Type IBAn achondrogenesis that is caused by mutation in the SLC26A2 gene which causes umbilical or inguinal hernia and a prominent rounded abdomen.Achondrogenesis Type IIAn achondrogenesis that is caused by mutations in the COL2A1 gene which causes underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the in vertebral column or in pelvis.AchondroplasiaA genetic condition causing dwarfism.AchromatopsiaA color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels is caused by autosomal recessive inherita Achromatopsia 2An achromatopsia that is caused by homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.Achromatopsia 3An achromatopsia that is caused by homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2.Achromatopsia 4An achromatopsia that is caused by homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.Achromatopsia 6A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that is caused by mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiester Achromatopsia 7An achromatopsia that is caused by homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.Acid Anhydride Respiratory AllergyA respiratory allergy that triggered by acid anhydride.Acid RefluxStomach acid flows back into the esophagus, causing heartburn.Acinar Cell CarcinomaA carcinoma that is caused by abnormally proliferating cells, arises from spindle cells and/or arises from giant cells.Acinetobacter Infectious DiseaseAn opportunistic bacterial infectious disease that is caused by Acinetobacter.Acinic Cell Breast CarcinomaA breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation.AcneBreakouts and inflammation of the skin's oil glands. Tracking your symptoms and connecting with others who understand can help you manage day to day.Acquired AngioedemaAn angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.Acquired Generalized LipodystrophyA complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth.Acquired Immunodeficiency SyndromeA Human immunodeficiency virus infectious disease that causes reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulner Acquired LaryngomalaciaA laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.Acquired Metabolic DiseaseA disease of metabolism that is caused by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary defic Acquired Night BlindnessA nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and is caused by lack of vitamin A such that rhodopsin, a light sensitive retinal Acquired Von Willebrand SyndromeA blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops Acral Lentiginous MelanomaA skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hand Acrocallosal SyndromeA syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.Acrocapitofemoral DysplasiaAn osteochondrodysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails and that is caused by Acrocardiofacial SyndromeA syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit.AcrocephalosyndactyliaA synostosis that causes craniosynostosis and syndactyly.AcrodermatitisA dermatitis that selectively affects the hands and feet.Acrodermatitis Chronica AtrophicansAn acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis.Acrodermatitis EnteropathicaA metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and is caused by mutation in the SLC39A4 gene that encodes a zinc uptake protein and AcrodysostosisA dysostosis that causes shortening of interphalangeal joints in hand or in foot along with mental deficiency.Acrofacial DysostosisA hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, is caused by mutation to the SF3B4 gene.Acrofacial Dysostosis, Catania TypeAn acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias.Acrofacial Dysostosis Cincinnati TypeAn acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is th Acrofacial Dysostosis, Patagonia TypeAn acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and is caused by X-linked dominant inheritance.Acrofacial Dysostosis Rodriguez TypeAn acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and is caused by autosomal recessive inheritance.Acrofrontofacionasal DysostosisA dysostosis that is characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.Acrofrontofacionasal Dysostosis 1An acrofrontofacionasal dysostosis that is characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and a Acrofrontofacionasal Dysostosis 2An acrofrontofacionasal dysostosis with genitourinary anomalies.Acrofrontofacionasal Dysostosis 3An acrofrontofacionasal dysostosis that is characterized by multiple congenital anomalies and severely impaired psychomotor development and that is caused by mutation in the NBAS gene on chromosome 2p24.Acrokeratosis VerruciformisA keratosis that is caused by mutations in the ATP2A2 gene.AcromegalyToo much growth hormone causes bones and tissues to enlarge. Tracking your symptoms and connecting with others who understand can help you manage day to day.Acromelic Frontonasal DysostosisA dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformat Acromesomelic DysplasiaAn osteochondrodysplasia that is characterized by mesomelia and acromelia, which causes short limb dwarfism.Acromesomelic Dysplasia 3An acromesomelic dysplasia that is characterized by short stature and shortened limbs with severe distal limb anomalies with rudimentary fingers and toes and that is caused by homozygous mutation in the BMPR1B gene on ch Acromesomelic Dysplasia 4An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that is caused by homozygous mutation in the PRKG2 gene on chromosome 4q21.Acromesomelic Dysplasia, Grebe TypeAn acromesomelic dysplasia that is caused by homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11.Acromesomelic Dysplasia, Hunter-Thompson TypeAn acromesomelic dysplasia that is caused by mutation in AMDH gene which causes normal axial skeleton but fused bones in the in hand or in foot.Acromesomelic Dysplasia, Maroteaux TypeAn acromesomelic dysplasia that is caused by homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13.Acromicric DysplasiaAn osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed Acrorenal SyndromeA syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely p ACTH-Independent Macronodular Adrenal HyperplasiaA primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol.ACTH-Independent Macronodular Adrenal Hyperplasia 1An ACTH-independent macronodular adrenal hyperplasia that is caused by somatic mutation in the GNAS gene on chromosome 20q13.32.ACTH-Secreting Pituitary AdenomaA functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome.Actinic KeratosisRough, scaly patches from sun damage that can become cancerous.ActinobacillosisA commensal bacterial infectious disease that causes infection, is caused by Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic r ActinomycosisA commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may d Acute Allergic Mucoid Otitis MediaA blue drum syndrome caused by an allergen.Acute Allergic Sanguinous Otitis MediaA acute sanguinous otitis media caused by an allergen.Acute Allergic Serous Otitis MediaA acute serous otitis media caused by an allergen.Acute AsthmaAn asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.Acute Basophilic LeukemiaAn acute myeloid leukemia that is characterized by primary differentiation to basophils.Acute Biphenotypic LeukemiaAn acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurren Acute Calcific PeriarthritisA periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.Acute CanaliculitisAn acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, causes epiphora, causes conjunctivitis, causes eyelid mattering and causes purulent discharge.Acute CervicitisA cervicitis that is characterized by onset within the past 1 - 3 days.Acute Chest SyndromeA lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen te Acute Closed-Angle GlaucomaA primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elev Acute Contagious ConjunctivitisA bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and is caused by Hemophilius Aegypticus.Acute CystitisA cystitis characterized by a sudden onset or severe symptoms.Acute DiarrheaA diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths Acute Disseminated EncephalomyelitisAn encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infectio Acute EndometritisAn endometritis that is characterized by onset within the past 1 - 3 days.Acute Erythroid LeukemiaAn acute myeloid leukemia that is characterized by a predominant immature erythroid population.Acute EthmoiditisA ethmoid sinusitis which lasts for less than 4 weeks.Acute Eustachian SalpingitisA otosalpingitis with a sudden onset and a short course.Acute Flaccid MyelitisA myelitis that is characterized by acute onset of flaccid weakness of one or more limbs.Acute Frontal SinusitisA frontal sinusitis which lasts for less than 4 weeks.Acute Gonococcal CervicitisAn acute cervicitis that is caused by gonorrhea.Acute Gonococcal CystitisAn acute cystitis that is caused by gonorrhea.Acute Gonococcal EndometritisAn acute endometritis that is caused by gonorrhea.Acute Hemorrhagic ConjunctivitisA viral infectious disease that results in inflammation located in conjunctiva, is caused by Human coxsackievirus A24 (Enterovirus coxsackiepol) or is caused by Human enterovirus 70 (Enterovirus deconjuncti), which are t Acute Hemorrhagic LeukoencephalitisA very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.Acute Hemorrhagic PancreatitisAn acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.Acute Hydrops KeratoconusA keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane.Acute Infection of PinnaAn otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic in Acute Interstitial PneumoniaA idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly wit Acute Kidney InjurySudden loss of kidney function.Acute Kidney Tubular NecrosisAn acute kidney failure that is characterized by necrosis of epithelial tubule cells.Acute LaryngitisA laryngitis which lasts less than a few days.Acute LaryngopharyngitisAn upper respiratory tract disease which involves inflammation of both larynx and pharynx.Acute LeukemiaA lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produce Acute Lymphoblastic LeukemiaA fast-growing leukemia of lymphocytes.Acute Maxillary SinusitisA maxillary sinusitis which lasts for less than 4 weeks.Acute Megakaryocytic LeukemiaAn acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.Acute Monocytic LeukemiaA monocytic leukemia where the majority of monocytic cells are promonocytes.Acute Myeloid LeukemiaA fast-growing leukemia of myeloid cells.Acute Myeloid Leukemia with BCR-ABL1An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.Acute Myeloid Leukemia with Biallelic Mutation of CEBPAAn acute myeloid leukemia with double mutations of the CEBPA gene.Acute Myeloid Leukemia with CBFA2T3-GLIS2 FusionAn acute myeloid leukemia associated with CBFA2T3-GLIS2 chimeric oncogene.Acute Myeloid Leukemia with FUS-ERG FusionAn acute myeloid leukemia associated with FUS-ERG gene fusion.Acute Myeloid Leukemia with Inv(16)(p13.1q22) or T(16;16)(p13.1;q22)An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression Acute Myeloid Leukemia with Inv(3) (q21.3;q26.2) or T(3;3) (q21.3;q26.2)An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression.Acute Myeloid Leukemia with KAT6A-CREBBP FusionAn acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.Acute Myeloid Leukemia with MaturationAn acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage.Acute Myeloid Leukemia with Minimal DifferentiationAn acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry.Acute Myeloid Leukemia with MLL RearrangementAn acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene.Acute Myeloid Leukemia with MNX1-ETV6 FusionAn acute myeloid leukemia associated with MXN1-ETV6 gene fusion.Acute Myeloid Leukemia with Mutated CEBPAAn acute myeloid leukemia with non-germline mutations of the CEBPA gene.Acute Myeloid Leukemia with Mutated NPM1An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features.Acute Myeloid Leukemia with Mutated RUNX1An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities.Acute Myeloid Leukemia with Myelodysplasia-Related ChangesAn acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogen Acute Myeloid Leukemia with NPM1-MLF1 FusionAn acute myeloid leukemia associated with NPM1-MLF1 gene fusion.Acute Myeloid Leukemia Without MaturationAn acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage.Acute Myeloid Leukemia with T(1;22)(p13;q13)An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein.Acute Myeloid Leukemia with T(6;9) (p23;q34.1)An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia.Acute Myeloid Leukemia with T(8;21); (q22; Q22.1)An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often c Acute Myelomonocytic LeukemiaAn acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors.Acute Necrotizing PancreatitisAn acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.Acute PancreatitisA pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.Acute Perichondritis of PinnaA perichondritis of auricle with a sudden onset and a short course.Acute PorphyriaA porphyria that causes abdominal pain, causes neuropathy, causes autonomic instability and causes psychosis.Acute Promyelocytic LeukemiaAn acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.Acute Promyelocytic Leukemia with PML-RARAAn acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate.Acute Sanguinous Otitis MediaA acute transudative otitis media which involves bloody effusion.Acute Serous Otitis MediaA acute transudative otitis media with thin, watery and sterile effusion.Acute Sphenoidal SinusitisA sphenoid sinusitis which lasts for less than 4 weeks.Acute Stress DisorderAn anxiety disorder that causes flashbacks, causes bad dreams, causes frightening thoughts, causes avoidance or causes hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or Acute Transudative Otitis MediaA non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course.AdamantinomaA bone cancer that is in almost exclusively in the long bones.Adams-Oliver SyndromeA syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.Adams-Oliver Syndrome 3An Adams-Oliver syndrome that is caused by heterozygous mutation in the RBPJ gene on chromosome 4p15.Addison's DiseaseThe adrenal glands don't make enough of certain hormones. Tracking your symptoms and connecting with others who understand can help you manage day to day.Adenine Phosphoribosyltransferase DeficiencyA purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and is caused by homozygous or compound heterozygou AdenocarcinomaA carcinoma that is caused by abnormally proliferating cells, arises from epithelial cells, which originate in glandular tissue.Adenocarcinoma in SituAn in situ carcinoma that arises from epithelial cells of glandular origin.AdenofibromaA cell type benign neoplasm that is composed of glandular and fibrous tissues, with a relatively large proportion of glands.Adenoid Basal Cell CarcinomaA basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.Adenoid Cystic CarcinomaAn adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells.Adenoid HypertrophyAn upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.AdenoiditisAn upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, i Adenoid Squamous Cell CarcinomaA squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis.AdenomaA cell type benign neoplasm that is composed of epithelial tissue in which tumor cells form glands or glandlike structures.AdenomyomaA cell type benign neoplasm that is caused by gland and muscle components.Adenomyoma of Uterine CorpusA uterine benign neoplasm that is caused by gland and muscle components.AdenomyosisUterine lining grows into the uterine muscle, causing pain. Tracking your symptoms and connecting with others who understand can help you manage day to day.AdenosarcomaA carcinosarcoma that arises from simultaneously or consecutively in mesodermal tissue and glandular epithelium.Adenosine Deaminase DeficiencyA severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.Adenosquamous Bile Duct CarcinomaA bile duct carcinoma that arises from squamous cells and gland-like cells.Adenosquamous Breast CarcinomaA breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma.Adenosquamous CarcinomaA squamous cell carcinoma that contains squamous cells and gland-like cells.Adenosquamous Colon CarcinomaA colon carcinoma that arises from squamous cells and gland-like cells.Adenosquamous Gallbladder CarcinomaA gallbladder carcinoma that arises from squamous cells and gland-like cells.Adenosquamous Lung CarcinomaAn adenosquamous carcinoma in lung that arises from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells.Adenosquamous Prostate CarcinomaA prostate carcinoma that arises from squamous cells and gland-like cells.Adenylosuccinase Lyase DeficiencyAn amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, is caused by autosomal recessive inheritance of mutation in the ADSL gene resulting in aden AdermatoglyphiaA skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3.ADHDPersistent trouble with attention, hyperactivity, or impulsivity. Tracking your symptoms and connecting with others who understand can help you manage day to day.Adhesions of UterusA uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure.Adhesive Otitis MediaAn auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear.AdiaspiromycosisA primary systemic mycosis that is a fungal infection in lungs, or in skin, which causes disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, is caused by Chryso Adie SyndromeA syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (to Adiposis DolorosaA lipomatosis characterized by characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas.Adjustment DisorderEmotional distress in response to a stressful event.Adolescence-Adult Electroclinical SyndromeAn electroclinical syndrome with onset in adolescence and adulthood.Adrenal AdenomaAn endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland.Adrenal CancerA rare cancer of the adrenal glands.Adrenal CarcinomaAn adrenal cancer that is in the cortex (steroid hormone-producing tissue) of the adrenal gland and that is caused by abnormally proliferating cells arises from epithelial cells.Adrenal Cortex DiseaseAn adrenal gland disease that is in the adrenal cortex.Adrenal Cortical AdenocarcinomaAn adrenocortical carcinoma that originates in the cortex of the adrenal gland and arises from epithelial cells of glandular origin.Adrenal Cortical AdenomaAn adrenal adenoma that is a benign tumor of the adrenal cortex.Adrenal Gland CancerAn endocrine gland cancer in the adrenal glands which are located above the kidneys.Adrenal Gland DiseaseAn endocrine system disease that is in the adrenal gland.Adrenal Gland PheochromocytomaA malignant pheochromocytoma that is characterized by overproduction of adrenaline.Adrenal Medulla CancerAn adrenal gland cancer that is in the adrenal medulla.Adrenal Medulla CarcinomaAn adrenal medulla cancer that is caused by abnormally proliferating cells arises from epithelial cells.Adrenal NeuroblastomaAn adrenal gland cancer that arises from immature neuroblastic cells.Adrenocortical CarcinomaAn adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that is caused by abnormally proliferating cells arises from epithelial cells.Adrenocorticotropic Hormone DeficiencyA hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.AdrenoleukodystrophyA genetic disorder affecting the nervous system and adrenal glands.Adult Acute Lymphocytic LeukemiaAn acute lymphocytic leukemia occurring during adulthood.Adult Acute Monocytic LeukemiaAn acute monocytic leukemia occurring in adults.Adult Astrocytic TumorA malignant astrocytoma that occurs during adulthood.Adult Botryoid RhabdomyosarcomaA botryoid rhabdomyosarcoma that is present in an adult.Adult Brain EpendymomaA brain ependymoma that is characterized by tumor in the ependyma of adults in spine, in intracranial (4th ventricle) and is caused by abnormally proliferating cells arises from ependymal cells.Adult Brain Stem GliomaA brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, is caused by abnormally proliferating cells and arises from glial cells.Adult Central Nervous System ChoriocarcinomaA choriocarcinoma that is located in the central nervous system of an adult.Adult Central Nervous System Embryonal CarcinomaA central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, is caused by abnormally proliferating cells arises from germ cells.Adult Central Nervous System Embryonal TumorA central nervous system embryonal tumor that occurs in adults.Adult Central Nervous System Mixed Germ Cell TumorA central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, is caus Adult Cystic NephromaA nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium.Adult Cystic TeratomaA cystic teratoma that is present in an adult.Adult Embryonal Tumor with Multilayered Rosettes, C19MC-AlteredAn embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.Adult Endodermal Sinus TumorAn endodermal sinus tumor that occurs in adults.Adult Extraosseous OsteosarcomaAn extraosseous osteosarcoma that is in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material.Adult Extraskeletal Myxoid ChondrosarcomaAn extraskeletal myxoid chondrosarcoma occurring in adults.Adult Hepatocellular CarcinomaA hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation.Adult HypophosphatasiaA hypophosphatasia that is caused by a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.Adult Mesenchymal ChondrosarcomaAn adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is in the cartilage.Adult-Onset Ataxia and PolyneuropathyA mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that is caused by heteroplasmic mutation in the mitochondrial gene MTATP6.Adult Onset Demyelinating LeukodystrophyA leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment.Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented GliaA leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and is caused by heterozygous mutation in the CSF1R gene on chromosome 5q32.Adult-Onset Leukoencephalopathy Without LacunaeA leukodystrophy characterized by a diffuse vascular leukoencephalopathy without lacunar infarct and a hippocampal type of memory defect with onset in the sixth to seventh decade that is caused by heterozygous mutation i Adult-Onset Myofibrillar Myopathy 2AA myofibrillar myopathy that is caused by heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.Adult-Onset Severe AsthmaA chronic asthma that is characterized by first presentation in adulthood.Adult-Onset Still'S DiseaseA rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain.Adult-Onset Type II CitrullinemiaA citrullinemia characterized by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia that is caused by homozygous or compound heter Adult Respiratory Distress SyndromeA respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulm Adult Spinal Muscular AtrophyA spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and is caused by mutations in the SMN1 or SMN2 genes that are requ ADULT SyndromeA syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth Adult T-Cell Leukemia/LymphomaA T-cell acute leukemia that causes abnormal increase of lymphocytes, arises from T-cells, is caused by human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, transmitted b Adult TeratomaA benign teratoma that is present in an adult.Adult Vagina Botryoid RhabdomyosarcomaA vagina botryoid rhabdomyosarcoma that presents in adulthood.Advanced Sleep Phase SyndromeA sleep disorder where sleep comes too early.Advanced Sleep Phase Syndrome 1An advanced sleep phase syndrome that is caused by heterozygous mutation in the PER2 gene on chromosome 2q37.Advanced Sleep Phase Syndrome 2An advanced sleep phase syndrome that is caused by heterozygous mutation in the CSNK1D gene on chromosome 17q25.Advanced Sleep Phase Syndrome 3An advanced sleep phase syndrome that is caused by heterozygous mutation in the PER3 gene on chromosome 1p36.23.Advanced Sleep Phase Syndrome 4An advanced sleep phase syndrome that is caused by heterozygous mutation in the TIMELESS gene on chromosome 12q13.Afferent Loop SyndromeA postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction.African HistoplasmosisA histoplasmosis that results in systemic fungal infection, is caused by Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results African Iron OverloadA hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.African Tick-Bite FeverA spotted fever that is caused by Rickettsia africae, which is transmitted by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection causes fever, causes eschar and causes maculopapular rash.AgammaglobulinemiaA B cell deficiency that is caused by a reduction in all types of gamma globulins.Agammaglobulinemia 1An agammaglobulinemia that is caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.Agammaglobulinemia 10An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that is caused by heterozygous Agammaglobulinemia 2An agammaglobulinemia that is caused by homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11.Agammaglobulinemia 3An agammaglobulinemia that is caused by homozygous mutation in the CD79A gene on chromosome 19q13.2.Agammaglobulinemia 4An agammaglobulinemia that is caused by a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.Agammaglobulinemia 5An agammaglobulinemia that is caused by heterozygous mutation in the LRRC8A gene on chromosome 9q34.Agammaglobulinemia 6An agammaglobulinemia that is caused by homozygous mutation in the CD79B gene on chromosome 17q23.Agammaglobulinemia 7An agammaglobulinemia that is caused by homozygous mutation in the PIK3R1 gene on chromosome 5q13.Agammaglobulinemia 8AAn agammaglobulinemia that is caused by heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13.Agammaglobulinemia 8BAn agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that is caused by homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13.Agammaglobulinemia 9An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that is caused by homozygous or compound heterozygous mutation in th AGAT DeficiencyAn amino acid metabolic disorder that is caused by a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital SyndromeA syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that is cau Agenesis of the Corpus Callosum with Peripheral NeuropathyA neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cogniti Age-Related Macular DegenerationMacular degeneration that occurs with aging.Age Related Macular Degeneration 1An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.Age Related Macular Degeneration 10An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene.Age Related Macular Degeneration 11An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11.Age Related Macular Degeneration 12An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22.Age Related Macular Degeneration 13An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.Age Related Macular Degeneration 14An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.Age Related Macular Degeneration 15An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.Age Related Macular Degeneration 2An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.Age Related Macular Degeneration 4An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.Age Related Macular Degeneration 5An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11.Age Related Macular Degeneration 6An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.Age Related Macular Degeneration 7An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.Age Related Macular Degeneration 8An age related macular degeneration that is caused by mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26.Age Related Macular Degeneration 9An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.Aggressive Digital Papillary AdenocarcinomaA sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential.Aggressive NK-Cell LeukemiaA leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is in the peripheral blood, bone marrow, liver, and spleen.Aggressive PeriodontitisA periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.Aggressive Periodontitis 1A periodontitis that is caused by homozygous mutation in the CTSC gene on chromosome 11q14.Aggressive Periodontitis 2An aggressive periodontitis that is caused by a locus is situated between D1S196 and D1S533 on chromosome 1q25.Agnathia-Otocephaly ComplexA physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosence AgnosiaDifficulty recognizing objects or people.AgoraphobiaFear of places or situations where escape might be hard.AgranulocytosisA leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood.AgraphiaAn acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.Aicardi-Goutieres SyndromeA syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased C Aicardi SyndromeA syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the b AinhumA connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequen AkathisiaAn inner restlessness and urge to move.Akinetic MutismA brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.AkinetopsiaAn agnosia that is a loss of motion perception.Alacrima, Achalasia, and Impaired Intellectual Development SyndromeA congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that is caused by homozygous or compound heterozygous m Alagille SyndromeA liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.Aland Island Eye DiseaseAn eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and is caused by mutation in the CACNA1F gene.AlbinismA genetic condition with little or no skin, hair, and eye pigment.Alcohol-Associated Liver DiseaseA liver disease resulting from excessive alcohol intake.Alcohol DependenceA substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psycholo Alcoholic KetoacidosisA metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy.Alcoholic PsychosisAn alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.Alcohol-Related Birth DefectsA fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.Alcohol-Related Neurodevelopmental DisorderA fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure.Alcohol Use DisorderProblematic alcohol use that impairs daily life.Alcuronium Bromide AllergyA drug allergy that triggered by alcuronium bromide.Aleukemic LeukemiaA leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood.Aleukemic Leukemia CutisAn aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood.Aleukemic Monocytic Leukemia CutisAn aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes.Aleutian Mink DiseaseA viral infectious disease that causes inflammatory destruction in blood vessels of minks and rarely in humans, which is caused by Aleutian mink disease parvovirus (Amdoparvovirus carnivoran1, Amdoparvovirus carnivoran9,Alexander DiseaseA rare disorder affecting the brain's white matter.AlexiaAn agnosia that is a loss of the ability to recognize text.AlexithymiaAn agnosia that is a deficiency in understanding, processing, or describing emotions.Al Kaissi SyndromeAn autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with AlkaptonuriaAn amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct.Alkhumra Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Alkhurma hemorrhagic fever virus (Orthoflavivirus kyasanurense), which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of u Alkuraya-Kucinskas SyndromeA syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that is caused by homozygous or compound heterozy Allan-Herndon-Dudley SyndromeA syndrome that is caused by mutation in the MCT8 gene on chromosome Xq13.Allergic AsthmaAn extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease causes coughing, causes wh Allergic Bronchopulmonary AspergillosisAn aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezi Allergic ConjunctivitisA chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.Allergic Contact DermatitisA contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as fo Allergic Contact Dermatitis of EyelidA noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and is caused by a type IV hypersenstivity reaction to an allergen or irritant.Allergic Cutaneous VasculitisA hypersensitivity vasculitis that causes inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.Allergic RhinitisAllergies that cause sneezing, a runny nose, and itchy eyes. Tracking your symptoms and connecting with others who understand can help you manage day to day.Allergic UrticariaAn urticaria that is characterized by erythematous papules and plaques, causes pruritis, and is caused by allergic reaction.AllescheriosisA primary systemic mycosis that causes systemic fungal infection, is caused by Pseudallescheria boydii, which causes the formation of abscesses.AlopeciaA hypotrichosis that is characterized by a loss of hair from the head or body.Alopecia AreataThe immune system attacks hair follicles, causing hair loss. Tracking your symptoms and connecting with others who understand can help you manage day to day.Alopecia-Mental Retardation SyndromeA syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability.Alopecia-Mental Retardation Syndrome 1An alopecia-mental retardation syndrome that is caused by homozygous mutation in the AHSG gene on chromosome 3q27.Alopecia-Mental Retardation Syndrome 2An alopecia-mental retardation syndrome that is caused by variation in chromosome 3q26.2-q26.31.Alopecia-Mental Retardation Syndrome 3An alopecia-mental retardation syndrome that is caused by variation in chromosome 18q11.2–q12.2.Alopecia-Mental Retardation Syndrome 4An alopecia-mental retardation syndrome that is caused by homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.Alopecia, Neurologic Defects, and Endocrinopathy SyndromeA syndrome characterized by alopecia, neurologic defects, and endocrinopathy that is caused by homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1.Alopecia UniversalisAn alopecia characterized by the complete loss of hair on the scalp and body.Alpers-Huttenlocher SyndromeA mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and is caused by autosomal recessive inh Alpha-1 Antitrypsin DeficiencyA genetic condition that can damage the lungs and liver.Alpha-2-Plasmin Inhibitor DeficiencyA hemorrhagic disease that is caused by mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous blee Alpha Chain DiseaseA heavy chain disease that results from an overproduction of alpha antibodies (IgA).Alpha-Gal SyndromeAn allergic disease that is triggered by galactose-alpha-1,3-galactose (alpha-gal). Sensitization usually results from a tick bite. Symptoms most often appear 2-6 hours after eating mammalian meat but may also be trigger Alpha-MannosidosisA lysosomal storage disease that is caused by deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.Alpha-Methylacyl-CoA Racemase DeficiencyA peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that is caused by homozygous mutation in t Alpha ThalassemiaA thalassemia involving the genes HBA1and HBA2 hemoglobin genes.Alpha Thalassemia-Intellectual Disability Syndrome Type 1A syndrome characterized by a variable phenotype including alpha thalassemia, intellectual disability, developmental abnormalities and/or speech delay, and facial dysmorphism that is caused by a deletion in chromosome 16 Alpha-Thalassemia Myelodysplasia SyndromeA syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that is caused by somatic mutation in the ATRX gene on chromosome Xq21.1.Alpha Thalassemia-X-Linked Intellectual Disability SyndromeA syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that Alport SyndromeA genetic condition affecting the kidneys, ears, and eyes.Alport Syndrome 2An Alport syndrome that is caused by homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.Alport Syndrome 3AAn Alport syndrome that is caused by heterozygous mutation in the COL4A3 gene.Alport Syndrome 3BAn Alport syndrome that is characterized by glomerular basement membrane abnormalities and that is caused by homozygous or compound heterozygous mutation in the COL4A3 gene on chromosome 2q36. Sensorineural hearing loss ALSA progressive disease that affects nerve cells controlling muscles. Tracking your symptoms and connecting with others who understand can help you manage day to day.Alsahan-Harris SyndromeA ciliopathy characterized by severe brain defects, including holoprosencephaly and anencephaly, ocular defects including microphthalmia/anophthalmia and cyclopia that is caused by homozygous or compound heterozygous mut Alstrom SyndromeA syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and i Alternating Hemiplegia of ChildhoodA hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.Alveolar EchinococcosisAn echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into t Alveolar Soft Part SarcomaA soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.Alzheimer's DiseaseA progressive brain disorder that causes memory loss and cognitive decline.Alzheimer'S Disease 1An Alzheimer's disease that is caused by mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.Alzheimer'S Disease 10An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.Alzheimer'S Disease 11An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.Alzheimer'S Disease 12An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.Alzheimer'S Disease 13An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.Alzheimer'S Disease 14An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.Alzheimer'S Disease 15An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.Alzheimer'S Disease 16An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.Alzheimer'S Disease 17An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.Alzheimer'S Disease 18An Alzheimer's disease that is caused by a mutation in the ADAM10 gene on chromosome 15q21.Alzheimer'S Disease 2An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.Alzheimer'S Disease 3An Alzheimer's disease that is caused by mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.Alzheimer'S Disease 4An Alzheimer's disease that is caused by a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.Alzheimer'S Disease 5An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12.Alzheimer'S Disease 6An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.Alzheimer'S Disease 7An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.Alzheimer'S Disease 8An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.Alzheimer'S Disease 9An Alzheimer's disease that is caused by heterozygous mutation in the ABCA7 gene on chromosome 19p13.3.AmblyopiaReduced vision in one eye, also called lazy eye.Ambras Type Hypertrichosis Universalis CongenitaA hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membrane AmebiasisA parasitic infection of the intestines.AMED SyndromeA syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature an AmeloblastomaA cell type benign neoplasm that is caused by odontogenic epithelium.Amelogenesis ImperfectaA dental enamel hypoplasia characterized by abnormal enamel formation.Amelogenesis Imperfecta Hypomaturation Type 2A2An amelogenesis imperfecta that is caused by homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).Amelogenesis Imperfecta Hypomaturation Type 2A3An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene.Amelogenesis Imperfecta Hypomaturation Type 2A4An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.Amelogenesis Imperfecta Hypomaturation Type 2A5An amelogenesis imperfecta that is caused by homozygous mutation in the SLC24A4 gene on chromosome 14q32.Amelogenesis Imperfecta Type 1AAn amelogenesis imperfecta that is caused by heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.Amelogenesis Imperfecta Type 1BAn amelogenesis imperfecta that is caused by heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.Amelogenesis Imperfecta Type 1CAn amelogenesis imperfecta that is caused by homozygous mutation in the enamelin gene (ENAM).Amelogenesis Imperfecta Type 1EAn amelogenesis imperfecta that is caused by X-linked dominant mutation in the gene encoding amelogenin (AMELX).Amelogenesis Imperfecta Type 1FAn amelogenesis imperfecta that is caused by homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.Amelogenesis Imperfecta Type 1GAn amelogenesis imperfecta that is caused by homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24.Amelogenesis Imperfecta Type 1HAn amelogenesis imperfecta that is caused by homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.Amelogenesis Imperfecta Type 1JAn amelogenesis imperfecta that is caused by homozygous mutation in the ACPT on chromosome 19q13.Amelogenesis Imperfecta Type 1KAn amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that is caused by heterozygous mutation in the SP6 gene on chromosome 17q21.Amelogenesis Imperfecta Type 2A1An amelogenesis imperfecta that is caused by homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.Amelogenesis Imperfecta Type 2A6An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that is caused by homozygous mutation in the G protein-coupled receptor-68 (GPR68) o Amelogenesis Imperfecta Type 3An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption.Amelogenesis Imperfecta Type 3AAn amelogenesis imperfecta type 3 that is caused by heterozygous mutation in the FAM83H gene on chromosome 8q24.Amelogenesis Imperfecta Type 3BAn amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that is caused by heterozygous mutation in the amelotin gene.Amelogenesis Imperfecta Type 3CAn amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that is caused by homozygous mutation in the RELT gene on chromosome 11q13.Amelogenesis Imperfecta Type 4An amelogenesis imperfecta which can is caused by mutation in the DLX3 gene.AmenorrheaA female reproductive system disease that is characterized by the absence of menstruation.American HistoplasmosisA histoplasmosis that results in systemic fungal infection, is caused by Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss o Amino Acid Metabolic DisorderAn inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.Aminoglycoside-Induced DeafnessA drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that is caused by mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mu AMME ComplexA syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that is caused by hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.AmnesiaMemory loss that can be sudden or progressive.Amnestic DisorderA cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.Amodiaquine AllergyA drug allergy that triggered by amodiaquine.Amoxicillin AllergyA beta-lactam allergy that triggered by amoxicillin.Amphetamine AbuseA substance abuse that involves the recurring use of amphetamines despite negative consequences.Ampulla of Vater AdenocarcinomaAn ampulla of Vater carcinoma that arises from epithelial cells of glandular origin.Ampulla of Vater Adenosquamous CarcinomaAn ampulla of Vater carcinoma that arises from squamous cells and gland-like cells.Ampulla of Vater Benign NeoplasmA duodenal benign neoplasm that is in the ampulla of Vater.Ampulla of Vater CancerA duodenum cancer that is in the ampulla of Vater.Ampulla of Vater CarcinomaAn ampulla of Vater cancer that is caused by abnormally proliferating cells arises from epithelial cells.Ampulla of Vater Squamous Cell CarcinomaAn ampulla of Vater carcinoma that arises from epithelial squamous cells.AmusiaAn agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.AmyloidosisA disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disrup Amyotrophic Lateral SclerosisA progressive disease that affects nerve cells controlling muscles.Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2.Amyotrophic Lateral Sclerosis Type 1An amyotrophic lateral sclerosis that is caused by mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.Amyotrophic Lateral Sclerosis Type 10An amyotrophic lateral sclerosis that is caused by mutation in the TARDBP gene on chromosome 1.Amyotrophic Lateral Sclerosis Type 11An amyotrophic lateral sclerosis that is caused by mutation in the FIG4 gene on chromosome 6.Amyotrophic Lateral Sclerosis Type 12An amyotrophic lateral sclerosis that is caused by mutation in the OPTN gene on chromosome 10.Amyotrophic Lateral Sclerosis Type 13An amyotrophic lateral sclerosis where a mutation that is caused by the ATXN2 gene on chromosome 12 contributes to suscepitbility.Amyotrophic Lateral Sclerosis Type 15An amyotrophic lateral sclerosis that is caused by mutation in the UBQLN2 gene on chromosome X.Amyotrophic Lateral Sclerosis Type 16An amyotrophic lateral sclerosis that is caused by mutation in the SIGMAR1 gene (SETX) on chromosome 9.Amyotrophic Lateral Sclerosis Type 18An amyotrophic lateral sclerosis that is caused by mutation in the PFN1 gene on chromosome 17.Amyotrophic Lateral Sclerosis Type 19An amyotrophic lateral sclerosis that is caused by mutation in the ERBB4 gene on chromosome 2.Amyotrophic Lateral Sclerosis Type 2An amyotrophic lateral sclerosis that is caused by mutation in the alsin gene on chromosome 2.Amyotrophic Lateral Sclerosis Type 20An amyotrophic lateral sclerosis with juvenile onset that is caused by mutation in the HNRNPA1 gene on chromosome 12.Amyotrophic Lateral Sclerosis Type 21An amyotrophic lateral sclerosis that is caused by mutation in the MATR3 gene on chromosome 5.Amyotrophic Lateral Sclerosis Type 22An amyotrophic lateral sclerosis that is caused by mutation in the TUBA4A gene on chromosome 2q35.Amyotrophic Lateral Sclerosis Type 23An amyotrophic lateral sclerosis that is caused by heterozygous mutation in the ANXA11 gene on chromosome 10q22.Amyotrophic Lateral Sclerosis Type 24An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that is caused by heterozygous mutation in the NEK1 gene on chromosome 4q33.Amyotrophic Lateral Sclerosis Type 25An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that is caused by heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 Amyotrophic Lateral Sclerosis Type 26An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that is caused by heterozygous mutation in the TIA1 gene on chr Amyotrophic Lateral Sclerosis Type 28An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that is Amyotrophic Lateral Sclerosis Type 3An amyotrophic lateral sclerosis that is caused by mutation in loci on chromosome 18.Amyotrophic Lateral Sclerosis Type 4An amyotrophic lateral sclerosis with juvenile onset that is caused by mutation in the SETX gene on chromosome 9.Amyotrophic Lateral Sclerosis Type 5An amyotrophic lateral sclerosis that is caused by mutation in the SPG11 gene on chromosome 15q21.Amyotrophic Lateral Sclerosis Type 6An amyotrophic lateral sclerosis that is caused by mutation in the FUS gene on chromosome 16.Amyotrophic Lateral Sclerosis Type 7An amyotrophic lateral sclerosis that is caused by mutation in SOD1 gene on chromosome 20.Amyotrophic Lateral Sclerosis Type 8An amyotrophic lateral sclerosis that is caused by mutation in the VAPB gene on chromosome 20.Amyotrophic Lateral Sclerosis Type 9An amyotrophic lateral sclerosis that is caused by mutation in the ANG gene on chromosome 14.Amyotrophic NeuralgiaA brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that is caused by heterozygo Anaerobic PneumoniaAn aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and Anal Canal AdenocarcinomaAn anal canal cancer that arises from epithelial cells of glandular origin.Anal Canal CancerA large intestine cancer that is in the terminal part of the large intestine.Anal Canal CarcinomaAn anal canal cancer that arises from epithelial cells.Anal Canal Squamous Cell CarcinomaAn anal canal cancer that arises from epithelial squamous cells.Anal CancerCancer of the anus.Anal CarcinomaA anus cancer that is caused by abnormally proliferating cells arises from epithelial cells and is in the anus.Anal Carcinoma in SituAn in situ carcinoma that is in the anus.Anal Colloid AdenocarcinomaAn anus carcinoma that arises from epithelial cells of glandular origin in the anal colloid.Anal FissureA small tear in the lining of the anus.Anal FistulaAn anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.Anal Gland AdenocarcinomaAn anus carcinoma that arises from epithelial cells of glandular origin in the anal gland.Anal Margin Basal Cell CarcinomaA basal cell carcinoma that is in the anal margin.Anal Margin CarcinomaAn anal carcinoma that is caused by abnormally proliferating cells arises from epithelial cells and is in the anal margin (where the canal meets the outside skin at the anus).Anal Squamous Cell CarcinomaAn anal carcinoma that arises near the squamocolumnar junction.Anaplastic AstrocytomaA malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.Anaplastic Large Cell LymphomaA non-Hodgkin lymphoma involving aberrant T-cells.Anaplastic OligodendrogliomaAn oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).Anaplastic Pleomorphic XanthoastrocytomaA malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.Anaplastic Sarcoma of the KidneyA kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.Anaplastic Thyroid CarcinomaA thyroid gland carcinoma that is composed of undifferentiated cells.Anatomical Narrow Angle Borderline GlaucomaA borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy Anauxetic DysplasiaA spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.Anauxetic Dysplasia 1An anauxetic dysplasia that is caused by homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.Anauxetic Dysplasia 2A spondyloepimetaphyseal dysplasia that is is caused by homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.Anauxetic Dysplasia 3A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that is caused by homozygous mutation in the NEPRO gene on chr AncylostomiasisA parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma c Andersen-Tawil SyndromeA long QT syndrome that is caused by autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and causes an unusually small lower jaw Androgenetic AlopeciaPattern hair loss affecting men and women.Androgenic AlopeciaAn alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.Androgen Insensitivity SyndromeA disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.AnemiaNot enough healthy red blood cells to carry oxygen. Tracking your symptoms and connecting with others who understand can help you manage day to day.Anemia of PrematurityA neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks.AnencephalyA congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the Aneruptive FeverA spotted fever that is caused by Rickettsia helvetica, which is transmitted by ticks (Ixodes sp). The infection causes fever, causes headache, causes myalgia.Angelman SyndromeA genetic disorder affecting the nervous system.AnginaChest pain caused by reduced blood flow to the heart muscle.Angiocentric GliomaA low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.AngiodysplasiaA vascular disease that is characterized as a small vascular malformation of the gut.AngioedemaA skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues.Angioimmunoblastic T-Cell LymphomaA peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis.AngiolipomaA lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.Angioma SerpiginosumA skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern in the blood vessels of the skin.AngiomyolipomaA cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.AngiomyomaA leiomyoma that is in the blood vessels.AngiosarcomaA vascular cancer that arises from the cells that line the walls of blood vessels or lymphatic vessels.AngiostrongyliasisA parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis.Angle-Closure GlaucomaA glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. An Angular BlepharoconjunctivitisA blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.Angular CheilitisA cheilitis characterized by inflammation of one or both of the corners of the mouth.AnhidrosisA hypohidrosis that is characterized by the inability to sweat and causes hyperthermia and dry skin.Animal PhobiaA specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all.AniridiaAn iris disease that is characterized by a complete or partial absence of the colored part of the eye.Aniridia 1An aniridia that is caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.AnisakiasisA parasitic helminthiasis infectious disease that causes infection in intestinal mucosa with larvae of the nematodes transmitted by ingestion of raw or poorly cooked saltwater fish, is caused by Anisakis simplex or is ca AniseikoniaA refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes.AnismusA focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation.Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate SyndromeAn ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that is caused by heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.AnkyloglossiaA tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth.Ankylosing SpondylitisInflammatory arthritis that mainly affects the spine. Tracking your symptoms and connecting with others who understand can help you manage day to day.Ankylosing Spondylitis 1A ankylosing spondylitis that is caused by variation in the HLA-B27 allele on chromosome 6p21.3.Ankylosing Spondylitis 2A ankylosing spondylitis that is caused by variation in the HLA-B27 allele on chromosome 9q31-q34.Ankylosing Spondylitis 3A ankylosing spondylitis that is caused by variation in the HLA-B allele on chromosome 2q36.1-q36.3.AnkylosisAn arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or o Ankyrin-B-Related Cardiac ArrhythmiaA heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorph Annular PancreasA pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis.AnodontiaA tooth disease that is characterized by complete absence of permanent teeth.Anogenital Venereal WartA viral infectious disease that causes infection in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, is caused by human papillomaviruses (types 6 and 11), which are transmitted by direct contact wi Anomalous Left Coronary Artery from the Pulmonary ArteryA coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus.Anorexia NervosaExtreme food restriction and fear of weight gain.AnosognosiaAn agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.AnovulationAn ovarian disease that is characterized by the absence of ovulation.Anterior Horn Cell DiseaseA motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible Anterior Segment DysgenesisAn eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia Anterior Segment Dysgenesis 1An anterior segment dysgenesis that is caused by heterozygous mutation in the PITX3 gene on chromosome 10q24.Anterior Segment Dysgenesis 2An anterior segment dysgenesis that is caused by homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33.Anterior Segment Dysgenesis 3An anterior segment dysgenesis that is caused by heterozygous mutation in the FOXC1 gene on chromosome 6p25.Anterior Segment Dysgenesis 4An anterior segment dysgenesis that is caused by heterozygous mutation in the PITX2 gene on chromosome 4q25.Anterior Segment Dysgenesis 5An anterior segment dysgenesis that is caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.Anterior Segment Dysgenesis 6An anterior segment dysgenesis that is caused by compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22.Anterior Segment Dysgenesis 7An anterior segment dysgenesis that is caused by homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25.Anterior Segment Dysgenesis 8An anterior segment dysgenesis that is caused by homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13.Anterior Spinal Artery SyndromeA syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery.Anterior Urethra CancerA female urethral cancer in the anterior urethra.Anterograde AmnesiaAn amnestic disorder that involves the impaired or lost ability to memorize new things.AnthracosilicosisA pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung.AnthracosisA pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema.Anthrax DiseaseA primary bacterial infectious disease that causes infection in skin, in lung lymph nodes or in gastrointestinal tract, is caused by Bacillus anthracis, transmitted by contact with infected animals or animal products, tr Anti-Basement Membrane GlomerulonephritisA Goodpasture syndrome that is characterized by damage to only kidney capillaries.Antidepressant Type AbuseA substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.Antiphospholipid SyndromeAn autoimmune disorder that increases clot risk.Antisocial Personality DisorderA personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.Antisynthetase SyndromeAn autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases.Antithrombin III DeficiencyA thrombophilia that is characterized by the tendency to form clots in the veins.Antley-Bixler SyndromeA craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.Antley-Bixler Syndrome with Disordered SteroidogenesisAn Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 Antley-Bixler Syndrome Without Disordered SteroidogenesisAn Antley-Bixler syndrome that is caused by heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.Anus AdenocarcinomaAn anal carcinoma that originating in the cortex of the adrenal gland and arises from epithelial cells of glandular origin.Anus CancerA large intestine cancer that is in the anus.Anus DiseaseA rectal disease in the anus.Anus LeiomyomaA gastrointestinal system benign neoplasm that arises from smooth muscle cells and that is in the anus.Anus LeiomyosarcomaA leiomyosarcoma and sarcoma of the anus that is in the anus.Anus RhabdomyosarcomaA rhabdomyosarcoma and sarcoma of the anus that is in the anus.Anus SarcomaA sarcoma and malignant neoplasm of anus that is in the anus.AnxietyAnxiety, panic, and coping-skills community with moderated crisis support Anxiety DisorderA cognitive disorder that involves an excessive, irrational dread of everyday situations.Aorta AngiosarcomaAn angiosarcoma that is in the aorta.Aorta AtresiaAn aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.Aortic AneurysmAn aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.Aortic AtherosclerosisAn atherosclerosis of the aorta.Aortic DiseaseAn artery disease that is characterized by degeneration of the cells composing the aortic wall.Aortic DissectionAn aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall.Aortic Malignant TumorA vascular cancer that is in the aorta.Aortic StenosisNarrowing of the heart's aortic valve that makes it harder to pump blood.Aortic Valve DiseaseA heart valve disease that is in the aortic valve.Aortic Valve Disease 1A bicuspid aortic valve disease that is caused by heterozygous mutation in the NOTCH1 gene on chromosome 9q34.Aortic Valve Disease 2A bicuspid aortic valve disease that is caused by heterozygous mutation in the SMAD6 gene on chromosome 15q22.Aortic Valve Disease 3A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that is caused by heterozygou Aortic Valve InsufficiencyAn aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.Aortic Valve StenosisAn aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.Apert SyndromeA genetic condition causing skull and limb abnormalities.AphasiaDifficulty with language after brain damage.Aphthous StomatitisA stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.Aplasia of Lacrimal and Salivary GlandsA syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that is caused by hetero Aplastic AnemiaThe bone marrow doesn't make enough blood cells. Tracking your symptoms and connecting with others who understand can help you manage day to day.Apocrine Adenosis of BreastA non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change.Apocrine CarcinomaAn apocrine sweat gland cancer that arises from epithelial cells of glandular origin.Apolipoprotein a-IV Associated AmyloidosisAn amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease.Apolipoprotein C-III DeficiencyA cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that is caused by heterozygous mutation in the APOC3 gene on chromosome 11q23.3.Apparent Mineralocorticoid Excess SyndromeA steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and AppendicitisAn appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causin Appendix AdenocarcinomaAn appendix carcinoma that arises from epithelial cells of glandular origin.Appendix CancerA intestinal cancer that is in the appendix.Appendix Carcinoid TumorAn appendix cancer that is caused by neurodendocrine cells.Appendix CarcinomaAn appendix cancer that is caused by abnormally proliferating cells arises from epithelial cells.Appendix DiseaseA gastrointestinal system disease that is in the appendix.Appendix LeiomyomaA gastrointestinal system benign neoplasm that arises from smooth muscle cells and that is in the appendix.Apperceptive AgnosiaAn agnosia that is a loss of the ability to distinguish visual shapes.Apple AllergyA fruit allergy triggered by Malus domestica plant fruit food product.APP-Related Cerebral Amyloid AngiopathyA cerebral amyloid angiopathy that is caused by an autosomal dominant mutation of APP on chromosome 21q21.3.ApraxiaDifficulty performing learned movements.Apricot AllergyA fruit allergy triggered by Prunus armeniaca plant fruit food product.Aqueous MisdirectionA glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual f Arboleda-Tham SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21.ARC SyndromeA syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that is caused by homo Arenaviridae Infectious DiseaseA viral infectious disease that causes infection in rodents and humans, is caused by Arenaviridae viruses.Argentine Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Junin virus (Mammarenavirus juninense), which is transmitted by rodent, Calomys musculinus. The infection causes fever, causes fatigue, causes malaise,Argininosuccinic AciduriaAn amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.Argyll Robertson PupilAn abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response.Armfield SyndromeA syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that is caused by variation in Aromatase Excess SyndromeA reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and is caused by autosomal dominant inher Aromatic L-Amino Acid Decarboxylase DeficiencyAn inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and is caused by au ArrhythmiaAn irregular heartbeat that can feel like fluttering or skipped beats.Arrhythmogenic Biventricular CardiomyopathyAn intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch Arrhythmogenic Left Ventricular CardiomyopathyAn intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involveme Arrhythmogenic Right Ventricular CardiomyopathyAn inherited heart muscle disease.Arrhythmogenic Right Ventricular Dysplasia 1An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the TGFB3 gene on chromosome 14q24.Arrhythmogenic Right Ventricular Dysplasia 10An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12.Arrhythmogenic Right Ventricular Dysplasia 11An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q.Arrhythmogenic Right Ventricular Dysplasia 12An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21.Arrhythmogenic Right Ventricular Dysplasia 13An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the CTNNA3 gene on chromosome 10q21.Arrhythmogenic Right Ventricular Dysplasia 14An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that is caused by heterozygous mutation in the CDH2 gene on chromosome 18q12.Arrhythmogenic Right Ventricular Dysplasia 3An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.Arrhythmogenic Right Ventricular Dysplasia 4An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.Arrhythmogenic Right Ventricular Dysplasia 5An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the TMEM43 gene on chromosome 3p25.Arrhythmogenic Right Ventricular Dysplasia 6An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.Arrhythmogenic Right Ventricular Dysplasia 8An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24.Arrhythmogenic Right Ventricular Dysplasia 9An arrhythmogenic right ventricular dysplasia that is caused by heterozygous mutations in the PKP2 gene on chromosome 12p11.Arterial Calcification of InfancyA vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elast Arterial Tortuosity SyndromeA connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.ArteriolosclerosisAn arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in ArterionephrosclerosisA chronic kidney disease that is characterized by arteriosclerosis, global glomerulosclerosis, and cortical fibrosis with tubular atrophy and loss.ArteriosclerosisAn artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.Arteriosclerotic Cardiovascular DiseaseAn arteriosclerosis that results in cardiovascular disease.Arteriovenous MalformationAn abnormal tangle of blood vessels.Arteriovenous Malformations of the BrainA central nervous system benign neoplasm that arises from endothelial cells and that is in the brain.Arteritic Anterior Ischemic Optic NeuropathyAn anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis.Artery DiseaseA vascular disease that is in an artery.ArthritisA bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness in joint.Arthrogryposis Multiplex CongenitaA nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.Arthrogryposis Multiplex Congenita-1An arthrogryposis multiplex congenita that is caused by homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13.Arthrogryposis Multiplex Congenita-3An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and t Arthrogryposis Multiplex Congenita-4An arthrogryposis multiplex congenita that is caused by homozygous mutation in the SCYL2 gene on chromosome 12q23.Arthrogryposis Multiplex Congenita-5An arthrogryposis multiplex congenita that is caused by homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.Arthrogryposis Multiplex Congenita-6An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that is cause Arthrogryposis, Renal Dysfunction, and Cholestasis 1An arthrogryposis, renal dysfunction, and cholestasis that is caused by homozygous or compound heterozygous mutation in VPS33B on 15q26.1.Arthrogryposis, Renal Dysfunction, and Cholestasis 2An arthrogryposis, renal dysfunction, and cholestasis that is caused by homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3.ArthropathyA bone disease that is in the joint.Arthus ReactionA hypersensitivity reaction type III disease that is characterized by local vasculitis, causes pain, edema, hemorrhage, or necrosis, and is caused by deposition of antigen-antibody immune complexes in vascular or serosal Articular Cartilage DiseaseA cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones.Articulation DisorderA speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand.Arts SyndromeAn X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of AsbestosisA pneumoconiosis caused by inhalation and retention of asbestos fibers.AscariasisA parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obst AscaridiasisA parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia.Aseptic MeningitisA meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses.Askin'S TumorAn Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated.AspartylglucosaminuriaA lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, is caused by mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, p Asperger SyndromeAn autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorder AspergillosisA fungal infection that usually affects the lungs.Asphyxia NeonatorumA respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.Asphyxiating Thoracic DystrophyA bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.Asphyxiating Thoracic Dystrophy 1An asphyxiating thoracic dystrophy associated with variation in the region 15q13.Asphyxiating Thoracic Dystrophy 2An asphyxiating thoracic dystrophy that is caused by homozygous mutation in the IFT80 gene on chromosome 3q25.Asphyxiating Thoracic Dystrophy 3An asphyxiating thoracic dystrophy that is caused by homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.Asphyxiating Thoracic Dystrophy 4An asphyxiating thoracic dystrophy is caused by compound heterozygous mutation in the TTC21B gene on chromosome 2q24.Asphyxiating Thoracic Dystrophy 5An asphyxiating thoracic dystrophy that is caused by homozygous mutation in the WDR19 gene on chromosome 4p14.Aspiration PneumoniaA bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dys Aspiration PneumonitisA pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a Aspirin AllergyA drug allergy that triggered by acetylsalicylic acid.Aspirin-Induced Respiratory DiseaseAn intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.Associative AgnosiaAn agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them.AstereognosiaAn agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.AsthmaAsthma action plans, triggers, inhaler technique, and breathing support Asthma, Nasal Polyps, and Aspirin IntoleranceA respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.AstigmatismBlurred vision from an irregularly shaped cornea.Astrakhan Spotted FeverA spotted fever that is caused by Rickettsia conorii subsp caspia, which is transmitted by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection causes fever, causes eschar (usually single), causes re AstroblastomaA malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.Astroblastoma, MN1-AlteredAn astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.Astrocytoma, IDH-Mutant, Grade 2An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.Astrocytoma, IDH-Mutant, Grade 3An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.Astrocytoma, IDH-Mutant, Grade 4An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to c Asymptomatic DengueA dengue disease that causes infection, is caused by Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has no manifestations of symptoms.Asymptomatic NeurosyphilisA tertiary neurosyphilis that causes mild meningitis.AtaxiaPoor coordination and balance from nervous system problems.Ataxia-Oculomotor Apraxia 3An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that is caused by homozygous mutation in the PIK3R5 gene on chromosome 17p13.Ataxia-Oculomotor Apraxia 4An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that is caused by homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.Ataxia-TelangiectasiaA rare disorder affecting the nervous and immune systems.Ataxia-Telangiectasia-Like Disorder 1An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that is caused by homozygous or compound heterozygous mutati Ataxia-Telangiectasia-Like Disorder 2An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that is caused by homozygous mutation in the PCNA gene on chromosome 20p12.Ataxic Cerebral PalsyA cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing AtelosteogenesisAn osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.Athabaskan Brainstem Dysgenesis SyndromeA brain disease that is characterized by brainstem dysgenesis, is caused by homozygous mutations in the HOXA1 gene.AtherosclerosisPlaque buildup inside the arteries that narrows blood flow.Athlete's FootA fungal infection of the feet.Atlantic Cod AllergyA fish allergy triggered by Gadus morhua.Atlantic Salmon AllergyA fish allergy triggered by Salmo salar.Atopic DermatitisAn allergic contact dermatitis that is a chronically relapsing inflammatory allergic response in the skin that causes itching and flaking.Atopic Dermatitis 2An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21.Atopic Dermatitis 3An atopic dermatitis associated with variation in the region 20p.Atopic Dermatitis 4An atopic dermatitis associated with variation in the region 17q25.3.Atopic Dermatitis 5An atopic dermatitis associated with variation in the region 13q12-q14.Atopic Dermatitis 6An atopic dermatitis associated with variation in the region 5q31-q33.Atopic Dermatitis 7An atopic dermatitis associated with variation in the region 11q13.5.Atopic Dermatitis 8An atopic dermatitis associated with variation in the region 4q22.1.Atopic Dermatitis 9An atopic dermatitis associated with variation in the region 3p24.AtransferrinemiaA metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the st Atrial FibrillationAn irregular, often fast heartbeat that can raise stroke risk. Tracking your symptoms and connecting with others who understand can help you manage day to day.Atrial FlutterA fast but organized heart rhythm in the upper chambers.Atrial Heart Septal DefectA heart septal defect in in the septum that separates the two atria of the heart.Atrial Heart Septal Defect 1An atrial heart septal defect type 1 associated with variation in the region 5p.Atrial Heart Septal Defect 2An atrial heart septal defect type 2 that is caused by heterozygous mutation in the GATA4 gene on chromosome 8p23.Atrial Heart Septal Defect 3An atrial heart septal defect type 3 that is caused by heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.Atrial Heart Septal Defect 4An atrial heart septal defect type 4 that is caused by mutation in the TBX20 gene.Atrial Heart Septal Defect 5An atrial heart septal defect type 5 that is caused by heterozygous mutation in the ACTC1 gene on chromosome 15q14.Atrial Heart Septal Defect 6An atrial heart septal defect type 6 that is caused by heterozygous mutation in the TLL1 gene on chromosome 4q32.Atrial Heart Septal Defect 7An atrial heart septal defect that is caused by heterozygous mutation in the NKX2-5 gene on chromosome 5q35.Atrial Heart Septal Defect 8An atrial heart septal defect that is caused by heterozygous mutation in the CITED2 gene on chromosome 6q23.3.Atrial Heart Septal Defect 9An atrial heart septal defect that is caused by heterozygous mutation in the GATA6 gene on chromosome 18q11.Atrial Standstill 1A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that is caused by coinheritance of a variant in the SCN5A gene in combination with a r Atrial Standstill 2A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and is caused by homozygous mutation in the NPPA gene on chromosome 1p36.Atrichia with Papular LesionsAn alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that is caused by mutations in the HR gene Atrioventricular BlockA heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.Atrioventricular Septal DefectA congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular s Atrophic Muscular DiseaseA neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.Atrophic RhinitisA rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine i Atrophic VulvaA vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization.Atrophoderma VermiculataA keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or ho Attention-Deficit/Hyperactivity DisorderInattention, hyperactivity, and impulsivity.Atypical AutismAn autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism.Atypical Autosomal Dominant Adult-Onset Demyelinating LeukodystrophyAn adult onset demyelinating leukodystrophy that is characterized by pyramidal signs with weakness and spasticity, dysarthria, dysautonomia, and white matter alterations affecting the cerebrum and corticospinal tracts wh Atypical Breast PapillomaA breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant.Atypical Chronic Myeloid Leukemia, BCR-ABL1 NegativeA myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome o Atypical Depressive DisorderA mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and sign Atypical Dopamine Transporter Deficiency SyndromeA dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia.Atypical Gaucher'S Disease Due to Saposin C DeficiencyA Gaucher's disease that is caused by compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.Atypical Hemolytic-Uremic SyndromeA complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.Atypical Hereditary Sensory NeuropathyA hereditary sensory and autonomic neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.Atypical Polypoid AdenomyomaAn adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm.Atypical Teratoid Rhabdoid TumorA brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.Auditory AgnosiaAn agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.Auditory Neuropathy and Optic AtrophyA multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that is caused by homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.Auditory System Benign NeoplasmA sensory system benign neoplasm that is located in the auditory system.Auditory System CancerAn organ system cancer in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.Auditory System DiseaseA sensory system disease that is characterized by auditory dysfunction in the auditory system.Autism Spectrum DisorderDifferences in social interaction and repetitive behaviors.Autistic DisorderAn autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior Auto-Brewery SyndromeAn acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and Autoimmune AtherosclerosisAn autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries.Autoimmune CardiomyopathyAn autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle.Autoimmune CholangitisAn autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera.Autoimmune Disease of BloodAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.Autoimmune Disease of Cardiovascular SystemAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system.Autoimmune Disease of Central Nervous SystemAn autoimmune hypersensitivity disease in the central nervous system.Autoimmune Disease of Endocrine SystemAn autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system.Autoimmune Disease of Exocrine SystemAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system.Autoimmune Disease of Eyes, Ear, Nose and ThroatAn autoimmune disease in eyes, in ears, in nose and in throat.Autoimmune Disease of Gastrointestinal TractAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.Autoimmune Disease of Musculoskeletal SystemAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.Autoimmune Disease of Peripheral Nervous SystemAn autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous sys Autoimmune Disease of Skin and Connective TissueAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue.Autoimmune Disease of the Nervous SystemAn autoimmune disease affecting the nervous system.Autoimmune Disease of Urogenital TractAn autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract.Autoimmune EpilepsyAn epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.Autoimmune GastritisAn autoimmune disease of gastrointestinal tract that is in the stomach.Autoimmune GlomerulonephritisAn autoimmune disease of urogenital tract that is in the renal glomerulus.Autoimmune Hemolytic AnemiaThe immune system destroys red blood cells.Autoimmune HepatitisThe immune system attacks the liver.Autoimmune Lymphoproliferative SyndromeA hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally Autoimmune Lymphoproliferative Syndrome Type 2AAn autoimmune lymphoproliferative syndrome that is caused by mutation in the CASP10 gene.Autoimmune Lymphoproliferative Syndrome Type 2BAn autoimmune lymphoproliferative syndrome that is caused by homozygous mutation in the CASP8 gene on chromosome 2q33.Autoimmune Lymphoproliferative Syndrome Type 3An autoimmune lymphoproliferative syndrome that is caused by homozygous mutation in the PRKCD gene on chromosome 3p21.Autoimmune Lymphoproliferative Syndrome Type 4An autoimmune lymphoproliferative syndrome that is caused by somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.Autoimmune MyocarditisAn autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle.Autoimmune NeuropathyAn autoimmune disease of central nervous system caused by an autoimmune response.Autoimmune Optic NeuritisAn autoimmune disease of peripheral nervous system that is in the neuron projection bundle connecting eye with brain.Autoimmune PancreatitisAn autoimmune disease of endocrine system that is in the pancreas.Autoimmune Peripheral NeuropathyAn autoimmune disease of peripheral nervous system that results in peripheral neuropathy.Autoimmune Polyendocrine SyndromeAn autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.Autoimmune Polyendocrine Syndrome Type 1An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.Autoimmune Polyendocrine Syndrome Type 2An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.Autoimmune Thrombocytopenic PurpuraA primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.Autoimmune ThyroiditisAn autoimmune disease of endocrine system that involves inflammation in thyroid gland caused by the immune system reacting against its own tissues.Autoimmune UveitisAn autoimmune disease of eyes, ear, nose and throat that is in the uvea.Autoimmune VasculitisAn autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels.Autoinflammation, Antibody Deficiency, and Immune Dysregulation SyndromeAn autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that invo Autoinflammation, Panniculitis, and Dermatosis SyndromeAn autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-rea Autoinflammatory DiseaseA primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causi Autoinflammatory Syndrome with Cytopenia, Hyperzincemia, and HypercalprotectinemiaA vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zin Autonomic Nervous System Benign NeoplasmA peripheral nervous system benign neoplasm that is in the autonomic nervous system.Autonomic Nervous System DiseaseA peripheral nervous system disease that is in the autonomic nervous system.Autonomic Nervous System NeoplasmA peripheral nervous system neoplasm that is in the autonomic nervous system.Autonomic NeuropathyNerve damage affecting automatic body functions like heart rate and digestion.Autonomic Peripheral NeuropathyA neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence.Autosomal Dominant Aarskog SyndromeAn Aarskog syndrome characterized by autosomal dominant inheritance.Autosomal Dominant Adult-Onset Leukodystrophy Without Amyloid AngiopathyA leukodystrophy characterized by adult onset of variable neurologic symptoms, including recurrent hemiplegic migraine associated with transient focal deficits, progressive motor abnormalities, and cognitive decline; bra Autosomal Dominant Adult-Onset Proximal Spinal Muscular AtrophyA spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that is cau Autosomal Dominant Auditory Neuropathy 1An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that is caused by heterozygous mutation in the DIAPH3 gene on chro Autosomal Dominant Auditory Neuropathy 3An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or abs Autosomal Dominant Autoinflammation, Panniculitis, and Dermatosis SyndromeAn autoinflammation, panniculitis, and dermatosis syndrome characterized by the onset of autoinflammatory features in infancy, including fever, aseptic skin lesions, panniculitis, and poor wound healing that is caused by Autosomal Dominant Beta ThalassemiaA beta thalassemia that is caused by one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.Autosomal Dominant Brain Small Vessel Disease 2AA brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration that is caused by heterozygous mutation in COL4A2 on chromosome 13 Autosomal Dominant Centronuclear MyopathyA centronuclear myopathy that is caused by autosomal dominant inheritance.Autosomal Dominant Cerebellar AtaxiaA cerebellar ataxia that is caused by autosomal dominant inheritance.Autosomal Dominant Cerebellar Ataxia, Deafness and NarcolepsyAn autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, is caused by mutation in the DNMT1 gene.Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1A CADASIL characterized by migraine, strokes, and white matter lesions that is caused by heterozygous mutation in the NOTCH3 gene on chromosome 19p13.Autosomal Dominant Chondrodysplasia PunctataA chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, is caused by autosomal dominant inheritance.Autosomal Dominant Congenital Deafness with OnychodystrophyA syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that is caused by heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.Autosomal Dominant Craniodiaphyseal DysplasiaA craniodiaphyseal dysplasia that is caused by heterozygous mutation in the SOST gene on chromosome 17q21.Autosomal Dominant Craniometaphyseal DysplasiaA craniometaphyseal dysplasia that is caused by heterozygous mutation in the ANKH gene on chromosome 5p15.Autosomal Dominant Cutis LaxaA cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity.Autosomal Dominant Cutis Laxa 1An autosomal dominant cutis laxa that is caused by heterozygous mutations in the ELN gene on chromosome 7q11.Autosomal Dominant Cutis Laxa 2An autosomal dominant cutis laxa that is caused by heterozygous mutation in the FBLN5 gene on chromosome 14q32.Autosomal Dominant Cutis Laxa 3An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a Autosomal Dominant DiseaseAn autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.Autosomal Dominant Distal Hereditary Motor NeuronopathyA spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, an Autosomal Dominant Dyskeratosis Congenita 1A dyskeratosis congenita that is caused by an autosomal dominant mutation of the TERC gene on chromosome 3q26.2.Autosomal Dominant Dyskeratosis Congenita 2A dyskeratosis congenita that is caused by an autosomal dominant mutation of the TERT gene on chromosome 5p15.33.Autosomal Dominant Dyskeratosis Congenita 3A dyskeratosis congenita that is caused by an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.Autosomal Dominant Dyskeratosis Congenita 4A dyskeratosis congenita that is caused by an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33.Autosomal Dominant Dyskeratosis Congenita 6A dyskeratosis congenita that is caused by an autosomal dominant mutation of ACD on chromosome 16q22.1.Autosomal Dominant Dystrophic Epidermolysis BullosaAn epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and is caused by autoso Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2An Emery-Dreifuss muscular dystrophy that is caused by an autosomal dominant mutation of the LMNA gene on chromosome 1q22.Autosomal Dominant Familial Visceral NeuropathyAn intestinal pseudo-obstruction that is inherited as an autosomal dominant trait.Autosomal Dominant Hyaline Body MyopathyA hyaline body myopathy that is caused by heterozygous mutation in MYH7 on 14q11.2.Autosomal Dominant Hyper-IGE Syndrome 1 with Recurrent InfectionsA hyper IgE syndrome that is caused by heterozygous mutation in the STAT3 gene on chromosome 17q21.Autosomal Dominant HypocalcemiaA metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.Autosomal Dominant Hypocalcemia 1An autosomal dominant hypocalcemia disease that is caused by heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.Autosomal Dominant Hypocalcemia 2An autosomal dominant hypocalcemia that is caused by heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13.Autosomal Dominant Hypophosphatemic RicketsA rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that is caused by autosomal dominant inheritance.Autosomal Dominant Intellectual Developmental DisorderA intellectual disability characterized by an autosomal dominant inheritance pattern.Autosomal Dominant Isolated Ectopia Lentis 1An isolated ectopia lentis that is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.Autosomal Dominant Isolated Macrothrombocytopenia 1A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and is caused by autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.Autosomal Dominant KeratitisA keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that is caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.Autosomal Dominant Keratitis-Ichthyosis-Deafness SyndromeA syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that is caused by heterozygous mutation in the GJB2 gene on chromosome 13q.Autosomal Dominant Keratosis Follicularis Spinulosa DecalvansA keratosis follicularis spinulosa decalvans that is caused by autosomal dominant inheritance.Autosomal Dominant Limb-Girdle Muscular DystrophyA limb-girdle muscular dystrophy that is caused by autosomal dominant inheritance.Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1An autosomal dominant limb-girdle muscular dystrophy that is caused by heterozygous mutation in the DNAJB6 gene on chromosome 7q36.Autosomal Dominant MicrocephalyA microcephaly that is caused by heterozygous mutation in an autosomal gene.Autosomal Dominant Mutilating Palmoplantar Keratoderma with Periorificial Keratotic PlaquesA mutilating palmoplantar keratoderma with periorificial keratotic plaques that is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13.2.Autosomal Dominant Neurodevelopmental Disorder with or Without Hyperkinetic Movements and SeizuresAn autosomal dominant intellectual developmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder that is Autosomal Dominant Nocturnal Frontal Lobe EpilepsyA frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.Autosomal Dominant Nonsyndromic DeafnessA nonsyndromic deafness characterized by an autosomal dominant inheritance mode.Autosomal Dominant Nonsyndromic Deafness 1An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and is caused by mutation in the DIAPH1 gene on chromosome 5q31.Autosomal Dominant Nonsyndromic Deafness 10An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and is caused by mutation in the EYA4 gene on ch Autosomal Dominant Nonsyndromic Deafness 11An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and is caused by mutation in the MYO7A gene on chromosome Autosomal Dominant Nonsyndromic Deafness 12An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and is caused by mutation in the TECTA gene on chromosome 11q23.Autosomal Dominant Nonsyndromic Deafness 13An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and is caused by mutation in the COL11A2 gene on chromosome 6p21.Autosomal Dominant Nonsyndromic Deafness 15An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and is caused by mutation in the POU4F3 gene on chromosome 5q32.Autosomal Dominant Nonsyndromic Deafness 16An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 2q23-q24.3.Autosomal Dominant Nonsyndromic Deafness 17An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and is caused by mutation in the MYH9 gene on chromosome 22q12.Autosomal Dominant Nonsyndromic Deafness 18An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 3q22.Autosomal Dominant Nonsyndromic Deafness 20An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and is caused by mutation in the ACTG1 gene on chromosome 17q25.Autosomal Dominant Nonsyndromic Deafness 21An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 6p24.1-p22.3.Autosomal Dominant Nonsyndromic Deafness 22An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and is caused by mutation in the MYO6 gene on chromosome 6q14.Autosomal Dominant Nonsyndromic Deafness 23An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and is caused by mutation in the SIX1 gene on chromosome 14q23.Autosomal Dominant Nonsyndromic Deafness 24An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 4q35-qter.Autosomal Dominant Nonsyndromic Deafness 25An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and is caused by mutation in the SLC17A8 gene on chro Autosomal Dominant Nonsyndromic Deafness 27An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 4q12-q13.1.Autosomal Dominant Nonsyndromic Deafness 28An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and is caused by mutation in the GRHL2 gene on chromosome 8q22.Autosomal Dominant Nonsyndromic Deafness 2AAn autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and is caused by mutation in the KCNQ4 gene on chromosome 1p34.2.Autosomal Dominant Nonsyndromic Deafness 2BAn autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and is caused by mutation in the GJB3 gene on chromosome 1p Autosomal Dominant Nonsyndromic Deafness 30An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 15q25-q26.Autosomal Dominant Nonsyndromic Deafness 31An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 6p21.3.Autosomal Dominant Nonsyndromic Deafness 33An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 13q34.Autosomal Dominant Nonsyndromic Deafness 34An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the NLRP3 gene on chromosome 1q44.Autosomal Dominant Nonsyndromic Deafness 36An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and is caused by mutation in the TMC1 gene on chromosome 9q21.Autosomal Dominant Nonsyndromic Deafness 37An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the COL11A1 gene on chromosome 1p21.1.Autosomal Dominant Nonsyndromic Deafness 3AAn autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and is caused by mutation in the GJB2 gene on chromosome 13q12.Autosomal Dominant Nonsyndromic Deafness 3BAn autosomal dominant nonsyndromic deafness that is caused by mutation in the GJB6 gene on chromosome 13q12.Autosomal Dominant Nonsyndromic Deafness 40An autosomal dominant nonsyndromic deafness that is caused by mutation in the CRYM gene on chromosome 16p12.Autosomal Dominant Nonsyndromic Deafness 41An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and is caused by autosomal dominant inheritance of heterozygous mutation in the purinergic recepto Autosomal Dominant Nonsyndromic Deafness 43An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 2p12.Autosomal Dominant Nonsyndromic Deafness 44An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and is caused by mutation in the CCDC50 gene on chromosome 3q28.Autosomal Dominant Nonsyndromic Deafness 47An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 9p22-p21.Autosomal Dominant Nonsyndromic Deafness 48An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and is caused by variation in the chromosome region 12q13-q14.Autosomal Dominant Nonsyndromic Deafness 49An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and is caused by variation in the chromosome region 1q21-q23.Autosomal Dominant Nonsyndromic Deafness 4AAn autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and is caused by mutation in the MYH14 gene on chromosome 19q13.33.Autosomal Dominant Nonsyndromic Deafness 4BAn autosomal dominant nonsyndromic deafness that is caused by mutation in the CEACAM16 gene on chromosome 19q13.Autosomal Dominant Nonsyndromic Deafness 5An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and is caused by heterozygous mutation in the gasdermin E (G Autosomal Dominant Nonsyndromic Deafness 50An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and is caused by mutation in the MIRN96 gene on chromosome 7q32.Autosomal Dominant Nonsyndromic Deafness 51An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and is caused by a 269-kb duplication of chromosome 9q21.11 Autosomal Dominant Nonsyndromic Deafness 53An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 14q11.2-q12.Autosomal Dominant Nonsyndromic Deafness 54An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 5q31.Autosomal Dominant Nonsyndromic Deafness 56An autosomal dominant nonsyndromic deafness that is caused by mutation in the TNC gene on chromosome 9q33.Autosomal Dominant Nonsyndromic Deafness 58An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 2p21-p12.Autosomal Dominant Nonsyndromic Deafness 59An autosomal dominant nonsyndromic deafness that is caused by variation in the chromosome region 11p14.2-q12.3.Autosomal Dominant Nonsyndromic Deafness 6An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and is caused by mutation in the WFS1 gene on chromosome 4p16.Autosomal Dominant Nonsyndromic Deafness 64An autosomal dominant nonsyndromic deafness that is caused by mutation in the DIABLO gene on chromosome 12q24.Autosomal Dominant Nonsyndromic Deafness 65An autosomal dominant nonsyndromic deafness that is caused by mutation in the TBC1D24 gene on chromosome 16p13.Autosomal Dominant Nonsyndromic Deafness 66An autosomal dominant nonsyndromic deafness that is caused by mutation in the CD164 gene on chromosome 6q21.Autosomal Dominant Nonsyndromic Deafness 67An autosomal dominant nonsyndromic deafness that is caused by mutation in the OSBPL2 gene on chromosome 20q13.Autosomal Dominant Nonsyndromic Deafness 68An autosomal dominant nonsyndromic deafness that is caused by mutation in the HOMER2 gene on chromosome 15q25.Autosomal Dominant Nonsyndromic Deafness 69An autosomal dominant nonsyndromic deafness that is caused by mutation in the KITLG gene on chromosome 12q21.Autosomal Dominant Nonsyndromic Deafness 7An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and is caused by variation in the chromosome region 1q21-q23.Autosomal Dominant Nonsyndromic Deafness 70An autosomal dominant nonsyndromic deafness that is caused by mutation in the MCM2 gene on chromosome 3q21.Autosomal Dominant Nonsyndromic Deafness 71An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the DMXL2 gene on chromosome 15q21.Autosomal Dominant Nonsyndromic Deafness 72An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the SLC44A4 gene on chromosome 6p21.Autosomal Dominant Nonsyndromic Deafness 73An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the PTPRQ gene on chromosome 12q21.Autosomal Dominant Nonsyndromic Deafness 74An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the PDE1C gene on chromosome 7p14.3.Autosomal Dominant Nonsyndromic Deafness 75An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the TRRAP gene on chromosome 7q22.1.Autosomal Dominant Nonsyndromic Deafness 76An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that is caused by heterozygous mutatio Autosomal Dominant Nonsyndromic Deafness 77An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.Autosomal Dominant Nonsyndromic Deafness 78An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that is caused by heterozygous mutation in the carboxy-terminal dom Autosomal Dominant Nonsyndromic Deafness 79An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the SCD5 gene on chromosome 4q21.22.Autosomal Dominant Nonsyndromic Deafness 80An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that is caused by heterozygous mutation in the GREB1L gene on chromo Autosomal Dominant Nonsyndromic Deafness 81An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the ELMOD3 gene on chromosome 2p11.Autosomal Dominant Nonsyndromic Deafness 82An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that is caused by heterozygous mutation in the ATP2B2 gene Autosomal Dominant Nonsyndromic Deafness 83An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the MAP1B gene on chromosome 5q13.Autosomal Dominant Nonsyndromic Deafness 84An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that is caused by heterozygous mutation in the ATP11A gene on chromos Autosomal Dominant Nonsyndromic Deafness 85An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the USP48 gene on chromosome 1p36.Autosomal Dominant Nonsyndromic Deafness 86An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that is caused by heterozygous mutation in the THOC1 gene on chromosome 18p11.Autosomal Dominant Nonsyndromic Deafness 87An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enl Autosomal Dominant Nonsyndromic Deafness 88An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that is caused by heterozygous mutation in the EPHA10 gene on chromosome 1p34.Autosomal Dominant Nonsyndromic Deafness 89An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the ATOH1 gene on chromosome 4q22.Autosomal Dominant Nonsyndromic Deafness 9An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and is caused by mutation in the COCH gene on chromosome 14q12.Autosomal Dominant Nonsyndromic Deafness 90An autosomal dominant nonsyndromic deafness that is caused by heterozygous mutation in the MYO3A gene on chromosome 10p12.Autosomal Dominant Osteopetrosis 1An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and is caused by heterozygous mutation in the LR Autosomal Dominant Osteopetrosis 2An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that is caused by mutation in the CLCN7 Autosomal Dominant Polycystic Kidney DiseaseA polycystic kidney disease characterized by the presence of multiple cysts in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.Autosomal Dominant Primary MicrocephalyA primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that is caused by an autosomal dominant mutation.Autosomal Dominant Primary Microcephaly 26A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that is caused by heterozygou Autosomal Dominant Primary Microcephaly 27A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual de Autosomal Dominant Progressive External Ophthalmoplegia 1A chronic progressive external ophthalmoplegia that is caused by heterozygous mutation in the POLG gene on chromosome 15q26.1.Autosomal Dominant Pseudohypoaldosteronism Type 1A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that is caused by heterozygous mutation in the NR3C2 gene on chromosome 4q31.Autosomal Dominant Robinow Syndrome 1A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies tha Autosomal Dominant Robinow Syndrome 2A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that is caused by heterozygous mutation in the DVL1 gene on chromosome Autosomal Dominant Robinow Syndrome 3A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that is caused Autosomal Dominant Sensory Ataxia 1A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that is caused by heterozygous mutation Autosomal Dominant Severe Congenital NeutropeniaA severe congenital neutropenia that is caused by heterozygous mutation of an autosomal gene.Autosomal Dominant Sideroblastic Anemia 4A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.Autosomal Dominant Spondyloepiphyseal Dysplasia TardaA spondyloepiphyseal dysplasia tarda that is caused by heterozygous mutation in a region of chromosome 12q13.Autosomal Dominant Thrombophilia Due to Protein C DeficiencyA thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that is caused by heterozygous mutation in the PROC gene on chromosome 2q14.3.Autosomal Dominant Thrombophilia Due to Protein S DeficiencyA protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that is caused by heterozygous mutation in the PROS1 gene on chromosome 3q11.1.Autosomal Dominant Tubulointerstitial Kidney DiseaseA kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh de Autosomal Dominant VitreoretinochoroidopathyA hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental an Autosomal Dominant Wolfram SyndromeA Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that is caused by autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene Autosomal Dominant Woolly HairA familial woolly hair syndrome that is caused by heterozygous mutation in the KRT74 gene on chromosome 12q13.13.Autosomal Genetic DiseaseA monogenic disease that is caused by a mutation on one of the non-sex chromosomes.Autosomal Hemophilia aA hemophilia characterized by autosomal inheritance of a Factor VIII deficiency.Autosomal-Mitochondrial Sensorineural DeafnessA sensorineural hearing loss characterized by progressive, severe to profound deafness that is caused by digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene.Autosomal Recessive Autoinflammation, Panniculitis, and Dermatosis SyndromeAn autoinflammation, panniculitis, and dermatosis syndrome characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and is caused by homozygous or comp Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord ParesisA Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that is caused by heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (H Autosomal Recessive Brain Small Vessel Disease 2BA brain small vessel disease characterized by the onset of neurologic abnormalities in infancy or the first years of life, including global developmental delay, impaired intellectual development with poor or absent speec Autosomal Recessive Centronuclear MyopathyA centronuclear myopathy that is caused by autosomal recessive inheritance.Autosomal Recessive Cerebellar AtaxiaA cerebellar ataxia that is caused by autosomal recessive inheritance.Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that is caused by homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13.Autosomal Recessive Chronic Granulomatous Disease 1A chronic granulomatous disease characterized by autosomal recessive inheritance that is caused by mutation in the NCF1 gene on chromosome 7q11.23.Autosomal Recessive Congenital Bilateral Absence of Vas DeferensA congenital bilateral absence of vas deferens that is caused by homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.Autosomal Recessive Congenital IchthyosisAn ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.Autosomal Recessive Congenital Ichthyosis 1An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that is caused by homozygous or compound heterozygous mutation in the TGM1 gene on chromos Autosomal Recessive Congenital Ichthyosis 10An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that is caused by homozygous mutation in the PNPLA1 gene on chromo Autosomal Recessive Congenital Ichthyosis 11An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that is caused by Autosomal Recessive Congenital Ichthyosis 13An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that is caused by homozygous mutation in the SDR9C7 gene on chromosome 12q13.Autosomal Recessive Congenital Ichthyosis 14An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that is caused by homozygous or compound heterozygous mutation in the SULT2B1 gene on chro Autosomal Recessive Congenital Ichthyosis 2An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum co Autosomal Recessive Congenital Ichthyosis 3An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that is caused by Autosomal Recessive Congenital Ichthyosis 4AAn autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that is caused by homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.Autosomal Recessive Congenital Ichthyosis 4BAn autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequ Autosomal Recessive Congenital Ichthyosis 5An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that is caused by homozygous mutation in the CYP4F22 gene Autosomal Recessive Congenital Ichthyosis 6An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that is caused by homozygous or compound heterozygous mutation in the NIPAL4 gen Autosomal Recessive Congenital Ichthyosis 7An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that is caused by variation in t Autosomal Recessive Congenital Ichthyosis 8An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that is caused by homozygous mutation in Autosomal Recessive Congenital Ichthyosis 9An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that is caused by ho Autosomal Recessive Congenital Indifference to PainA neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that is caused by homozygous or compound heterozygous loss-of-function mutation in the Autosomal Recessive Congenital NystagmusA congenital nystagmus characterized by autosomal recessive inheritance.Autosomal Recessive Congenital Nystagmus 8A congenital nystagmus that is caused by mutation in the FRMD7 gene on chromosome Xq26.2.Autosomal Recessive Craniometaphyseal DysplasiaA craniometaphyseal dysplasia that is caused by homozygous mutation in the GJA1 gene on chromosome 6q22.Autosomal Recessive Cutis Laxa Type IA cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.Autosomal Recessive Cutis Laxa Type IAAn autosomal recessive cutis laxa type I that is caused by homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.Autosomal Recessive Cutis Laxa Type IBAn autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that is caused by homozygous or compound heterozygous mutation in t Autosomal Recessive Cutis Laxa Type ICA autosomal recessive cutis laxa type I that is caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.Autosomal Recessive Cutis Laxa Type IIAAn autosomal recessive cutis laxa type II classic type that is caused by homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.Autosomal Recessive Cutis Laxa Type IIBA cutis laxa characterized by progeroid features that is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.Autosomal Recessive Cutis Laxa Type IICAn autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that is caused by homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.Autosomal Recessive Cutis Laxa Type II Classic TypeA cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.Autosomal Recessive Cutis Laxa Type IIDAn autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that is caused by homozygous mutation i Autosomal Recessive Cutis Laxa Type IIIA cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, dev Autosomal Recessive Cutis Laxa Type IIIAA autosomal recessive cutis laxa type III that is caused by homozygous mutation in the ALDH18A1 gene on chromosome 10q24.Autosomal Recessive Cutis Laxa Type IIIBAn autosomal recessive cutis laxa type III that is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.Autosomal Recessive DiseaseAn autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.Autosomal Recessive Distal Hereditary Motor NeuronopathyA spinal muscular atrophy that is caused by autosomal recessive inheritance.Autosomal Recessive Distal Renal Tubular Acidosis 3 with or Without Sensorineural Hearing LossA renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion sec Autosomal Recessive Dyskeratosis Congenita 1A dyskeratosis congenita that is caused by an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.Autosomal Recessive Dyskeratosis Congenita 2A dyskeratosis congenita that is caused by an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.Autosomal Recessive Dyskeratosis Congenita 3A dyskeratosis congenita that is caused by an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.Autosomal Recessive Dyskeratosis Congenita 4A dyskeratosis congenita that is caused by an autosomal recessive mutation of the TERT gene on chromosome 5p15.33.Autosomal Recessive Dyskeratosis Congenita 5A dyskeratosis congenita that is caused by an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.Autosomal Recessive Dyskeratosis Congenita 6A dyskeratosis congenita that is caused by an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3An Emery-Dreifuss muscular dystrophy that is caused by an autosomal recessive mutation of the LMNA gene on chromosome 1q22.Autosomal Recessive Hyaline Body MyopathyA hyaline body myopathy that is caused by compound heterozygous or homozygous mutation in MYH7 on 14q11.2.Autosomal Recessive HypercholesterolemiaA familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and Autosomal Recessive Hyper-IGE Syndrome 3 with Recurrent InfectionsA hyper IgE syndrome that is caused by homozygous mutation in the ZNF341 gene on chromosome 20q11.Autosomal Recessive Hypophosphatemic RicketsA rickets that is caused by autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.Autosomal Recessive Intellectual Developmental DisorderA intellectual disability characterized by an autosomal recessive inheritance pattern.Autosomal Recessive Isolated Ectopia Lentis 2An isolated ectopia lentis that is caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.Autosomal Recessive Limb-Girdle Muscular DystrophyA limb-girdle muscular dystrophy is caused by autosomal recessive inheritance.Autosomal Recessive Neurodevelopmental Disorder with or Without Hyperkinetic Movements and SeizuresAn autosomal recessive intellectual developmental disorder characterized by severely delayed psychomotor development, severely impaired intellectual development, and involuntary movements, including stereotypic movements Autosomal Recessive Nonsyndromic DeafnessA nonsyndromic deafness characterized by an autosomal recessive inheritance mode.Autosomal Recessive Nonsyndromic Deafness 100An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that is caused by homozygous or compound heterozygous mutation in the PPIP5 Autosomal Recessive Nonsyndromic Deafness 101An autosomal recessive nonsyndromic deafness that is caused by mutation in the GRXCR2 gene on chromosome 5q32.Autosomal Recessive Nonsyndromic Deafness 102An autosomal recessive nonsyndromic deafness that is caused by mutation in the EPS8 gene on chromosome 12p12.Autosomal Recessive Nonsyndromic Deafness 103An autosomal recessive nonsyndromic deafness that is caused by mutation in the CLIC5 gene on chromosome 6p21.Autosomal Recessive Nonsyndromic Deafness 104An autosomal recessive nonsyndromic deafness that is caused by mutation in the FAM65B gene on chromosome 6p22.Autosomal Recessive Nonsyndromic Deafness 106An autosomal recessive nonsyndromic deafness that is caused by homozygous mutation in the EPS8L2 gene on chromosome 11p15.Autosomal Recessive Nonsyndromic Deafness 107An autosomal recessive nonsyndromic deafness that is caused by compound heterozygous mutation in the WBP2 gene on chromosome 17q25.Autosomal Recessive Nonsyndromic Deafness 108An autosomal recessive nonsyndromic deafness that is caused by homozygous mutation in the ROR1 gene on chromosome 1p31.Autosomal Recessive Nonsyndromic Deafness 109An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that is caused by homozygous or Autosomal Recessive Nonsyndromic Deafness 110An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that is caused by homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12.Autosomal Recessive Nonsyndromic Deafness 111An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that is caused by homozygous or compound heterozygous mutation in th Autosomal Recessive Nonsyndromic Deafness 112An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that is caused by homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2.Autosomal Recessive Nonsyndromic Deafness 113An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that is caused by homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13.Autosomal Recessive Nonsyndromic Deafness 114An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2.Autosomal Recessive Nonsyndromic Deafness 115An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that is caused by homozygous or compound heterozygous mutation in the SPNS2 gene on chromo Autosomal Recessive Nonsyndromic Deafness 116An autosomal recessive nonsyndromic deafness that is caused by homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.Autosomal Recessive Nonsyndromic Deafness 117An autosomal recessive nonsyndromic deafness characterized by bilateral moderate-to-profound sensorineural deafness with onset in early childhood that is caused by homozygous mutation in the CLRN2 gene on chromosome 4p15 Autosomal Recessive Nonsyndromic Deafness 118An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that is caused by homozygous 200-kb deletion of a region downstream of the GDF6 gene on ch Autosomal Recessive Nonsyndromic Deafness 119An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that is caused by compound heterozygous mutation in the AFG2B gene on chromosome 15q21.Autosomal Recessive Nonsyndromic Deafness 12An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the CDH23 gene on chromosome 10q22.Autosomal Recessive Nonsyndromic Deafness 120An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss that is caused by homozygous mutation in the MINAR2 gene on chromosome 5q23.Autosomal Recessive Nonsyndromic Deafness 121An autosomal recessive nonsyndromic deafness characterized by congenital or prelingual moderate sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3 Autosomal Recessive Nonsyndromic Deafness 122An autosomal recessive nonsyndromic deafness characterized by postnatal onset of sensorineural hearing loss, affecting high frequencies first and progressing to deficits in all frequencies, that results in deafness by th Autosomal Recessive Nonsyndromic Deafness 123An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that is caused by homozygous mutation in the STX4 gene on chro Autosomal Recessive Nonsyndromic Deafness 124An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.Autosomal Recessive Nonsyndromic Deafness 125An autosomal recessive nonsyndromic deafness characterized by congenital nonsyndromic sensorineural hearing loss hat is caused by homozygous mutation in the GAS2 gene on chromosome 11p14.Autosomal Recessive Nonsyndromic Deafness 13An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 7q34-q36.Autosomal Recessive Nonsyndromic Deafness 14An autosomal recessive nonsyndromic deafness that is caused by variation between D7S554 and D7S2459 in the chromosome region 7q31.Autosomal Recessive Nonsyndromic Deafness 15An autosomal recessive nonsyndromic deafness that is caused by mutation in the GIPC3 gene on chromosome 19p13.Autosomal Recessive Nonsyndromic Deafness 16An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the STRC gene on chromosome 15q15.Autosomal Recessive Nonsyndromic Deafness 17An autosomal recessive nonsyndromic deafness that is caused by variation between D7S2453 and D7S525 in the chromosome region 7q31.Autosomal Recessive Nonsyndromic Deafness 18AAn autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the USH1C gene on chromosome 11p15.Autosomal Recessive Nonsyndromic Deafness 18BAn autosomal recessive nonsyndromic deafness that is caused by mutation in the OTOG gene on chromosome 11p15.Autosomal Recessive Nonsyndromic Deafness 1AAn autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and is caused by mutation in the GJB2 gene on chromosome 13q12.Autosomal Recessive Nonsyndromic Deafness 1BAn autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and is caused by mutation in the GJB6 gene on chromosome 13q12.Autosomal Recessive Nonsyndromic Deafness 2An autosomal recessive nonsyndromic deafness that is caused by mutation in the MYO7A gene on chromosome 11q13.Autosomal Recessive Nonsyndromic Deafness 20An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 11q25-qter.Autosomal Recessive Nonsyndromic Deafness 21An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the TECTA gene on chromosome 11q23.3.Autosomal Recessive Nonsyndromic Deafness 22An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the OTOA gene on chromosome 16p12.Autosomal Recessive Nonsyndromic Deafness 23An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the PCDH15 gene on chromosome 10q21.Autosomal Recessive Nonsyndromic Deafness 24An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the RDX gene on chromosome 11q22.Autosomal Recessive Nonsyndromic Deafness 25An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and is caused by mutation in the GRXCR1 gene on chromosome 4p13.Autosomal Recessive Nonsyndromic Deafness 26An autosomal recessive nonsyndromic deafness that is caused by homozygous mutation in the GAB1 gene on chromosome 4q31.Autosomal Recessive Nonsyndromic Deafness 27An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 2q23-q31.Autosomal Recessive Nonsyndromic Deafness 28An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the TRIOBP gene on chromosome 22q13.Autosomal Recessive Nonsyndromic Deafness 29An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the CLDN14 gene on chromosome 21q22.Autosomal Recessive Nonsyndromic Deafness 3An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the MYO15A gene on chromosome 17p11.Autosomal Recessive Nonsyndromic Deafness 30An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutations in the MYO3A gene on chromosome 10p12.1.Autosomal Recessive Nonsyndromic Deafness 31An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and is caused by mutation in the WHRN gene on chromosome 9q32.Autosomal Recessive Nonsyndromic Deafness 32An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that is caused by mutation in the CDC14A gene Autosomal Recessive Nonsyndromic Deafness 33An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 10p11.23-q21.1.Autosomal Recessive Nonsyndromic Deafness 35An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and is caused by mutation in the ESRRB gene on chromosome 14q24.Autosomal Recessive Nonsyndromic Deafness 36An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and is caused by mutation in the ESPN gene on chromosome 1p36.Autosomal Recessive Nonsyndromic Deafness 37An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and is caused by mutation in the MYO6 gene on chromosome 6q14.Autosomal Recessive Nonsyndromic Deafness 38An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 6q26-q27.Autosomal Recessive Nonsyndromic Deafness 39An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and is caused by mutation in the HGF gene on chromosome 7q21.Autosomal Recessive Nonsyndromic Deafness 4An autosomal recessive nonsyndromic deafness that is caused by mutation in the SLC26A4 gene on chromosome 7q22.Autosomal Recessive Nonsyndromic Deafness 40An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 22q11.21-q12.1.Autosomal Recessive Nonsyndromic Deafness 42An autosomal recessive nonsyndromic deafness that is caused by mutation in the ILDR1 gene on chromosome 3q13.Autosomal Recessive Nonsyndromic Deafness 44An autosomal recessive nonsyndromic deafness that is caused by mutation in the ADCY1 gene on chromosome 7p12.Autosomal Recessive Nonsyndromic Deafness 45An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 1q43-q44.Autosomal Recessive Nonsyndromic Deafness 46An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 18p11.32-p11.31.Autosomal Recessive Nonsyndromic Deafness 47An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 2p25.1-p24.3.Autosomal Recessive Nonsyndromic Deafness 48An autosomal recessive nonsyndromic deafness that is caused by mutation in the CIB2 gene on chromosome 15q25.Autosomal Recessive Nonsyndromic Deafness 49An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and is caused by mutation in the MARVELD2 gene on chromosome 5q13.Autosomal Recessive Nonsyndromic Deafness 5An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 14q12.Autosomal Recessive Nonsyndromic Deafness 51An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 11p13-p12.Autosomal Recessive Nonsyndromic Deafness 53An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the COL11A2 gene on chromosome 6p21.Autosomal Recessive Nonsyndromic Deafness 55An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 4q12-q13.2.Autosomal Recessive Nonsyndromic Deafness 57An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that is caused by homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31.Autosomal Recessive Nonsyndromic Deafness 59An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the DFNB59 gene on chromosome 2q31.Autosomal Recessive Nonsyndromic Deafness 6An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the TMIE gene on chromosome 3p21.Autosomal Recessive Nonsyndromic Deafness 61An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and is caused by mutation in the SLC26A5 gene on chromosome 7q22.Autosomal Recessive Nonsyndromic Deafness 62An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 12p13.2-p11.23.Autosomal Recessive Nonsyndromic Deafness 63An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the LRTOMT gene on chromosome 11q13.Autosomal Recessive Nonsyndromic Deafness 65An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 20q13.2-q13.3.Autosomal Recessive Nonsyndromic Deafness 66An autosomal recessive nonsyndromic deafness that is caused by mutation in the DCDC2 gene on chromosome 6p22.Autosomal Recessive Nonsyndromic Deafness 67An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the LHFPL5 gene on chromosome 6p21.Autosomal Recessive Nonsyndromic Deafness 68An autosomal recessive nonsyndromic deafness that is caused by mutation in the S1PR2 gene on chromosome 19p13.Autosomal Recessive Nonsyndromic Deafness 7An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the TMC1 gene on chromosome 9q21.Autosomal Recessive Nonsyndromic Deafness 70An autosomal recessive nonsyndromic deafness that is caused by mutation in the PNPT1 gene on chromosome 2p16.Autosomal Recessive Nonsyndromic Deafness 71An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 8p22-p21.3.Autosomal Recessive Nonsyndromic Deafness 74An autosomal recessive nonsyndromic deafness that is caused by mutation in the MSRB3 gene on chromosome 12q14.Autosomal Recessive Nonsyndromic Deafness 76An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and is caused by mutation in the SYNE4 gene on chromosome 19q13.Autosomal Recessive Nonsyndromic Deafness 77An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and is caused by mutation in the LOXHD1 gene on chromosome 18q21.Autosomal Recessive Nonsyndromic Deafness 79An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and is caused by mutation in the TPRN gene on chromosome 9q34.Autosomal Recessive Nonsyndromic Deafness 8An autosomal recessive nonsyndromic deafness that is caused by mutation in the TMPRSS3 gene on chromosome 21q22.Autosomal Recessive Nonsyndromic Deafness 83An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 9p23-p21.2.Autosomal Recessive Nonsyndromic Deafness 84AAn autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and is caused by mutation in the PTPRQ gene on chromosome 12q21.Autosomal Recessive Nonsyndromic Deafness 84BAn autosomal recessive nonsyndromic deafness that is caused by mutation in the OTOGL gene on chromosome 12q21.Autosomal Recessive Nonsyndromic Deafness 85An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 17p12-q11.2.Autosomal Recessive Nonsyndromic Deafness 86An autosomal recessive nonsyndromic deafness that is caused by mutation in the TBC1D24 gene on chromosome 16p13.Autosomal Recessive Nonsyndromic Deafness 88An autosomal recessive nonsyndromic deafness that is caused by mutation in the ELMOD3 gene on chromosome 2p11.Autosomal Recessive Nonsyndromic Deafness 89An autosomal recessive nonsyndromic deafness that is caused by mutation in the KARS gene on chromosome 16q23.Autosomal Recessive Nonsyndromic Deafness 9An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and is caused by mutation in the OTOF gene on chromosome 2p23.Autosomal Recessive Nonsyndromic Deafness 91An autosomal recessive nonsyndromic deafness that is caused by mutation in the SERPINB6 gene on chromosome 6p25.Autosomal Recessive Nonsyndromic Deafness 93An autosomal recessive nonsyndromic deafness that is caused by mutation in the CABP2 gene on chromosome 11q13.Autosomal Recessive Nonsyndromic Deafness 94An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.Autosomal Recessive Nonsyndromic Deafness 96An autosomal recessive nonsyndromic deafness that is caused by variation in the chromosome region 1p36.31-p36.13.Autosomal Recessive Nonsyndromic Deafness 97An autosomal recessive nonsyndromic deafness that is caused by mutation in the MET gene on chromosome 7q31.Autosomal Recessive Nonsyndromic Deafness 98An autosomal recessive nonsyndromic deafness that is caused by mutation in the TSPEAR gene on chromosome 21q22.Autosomal Recessive Nonsyndromic Deafness 99An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that is caused by homozygous or compound heterozygous mutation in the Autosomal Recessive Osteopetrosis 1An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.Autosomal Recessive Osteopetrosis 2An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous mutation in the TNFSF11 gene on chromosome 13q14.Autosomal Recessive Osteopetrosis 3An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.Autosomal Recessive Osteopetrosis 4An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13.Autosomal Recessive Osteopetrosis 5An osteopetrosis characterized by autosomal recessive inheritance that is caused by mutation in the OSTM1 gene on chromosome 6q21.Autosomal Recessive Osteopetrosis 6An osteopetrosis characterized by autosomal recessive inheritance of that is caused by mutation in the PLEKHM1 gene on chromosome 17q21.31.Autosomal Recessive Osteopetrosis 7An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.Autosomal Recessive Osteopetrosis 8An osteopetrosis characterized by autosomal recessive inheritance that is caused by homozygous mutation in the SNX10 gene on chromosome 7p15.Autosomal Recessive Pericentral Pigmentary RetinopathyA retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.Autosomal Recessive Polycystic Kidney DiseaseA polycystic kidney disease characterized by the presence of multiple cysts in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.Autosomal Recessive Primary MicrocephalyA primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that is caused by an autosomal recessive mutation.Autosomal Recessive Progressive External Ophthalmoplegia 1A chronic progressive external ophthalmoplegia that is caused by homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.Autosomal Recessive Proximal Renal Tubular AcidosisA renal tubular transport disease characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage.Autosomal Recessive Pseudohypoaldosteronism Type 1A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that is caused by homozygous or compound heterozygous mutation in any one of 3 genes encoding sub Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and is caused by autosomal recessive inheritance of mutation in the SLC25A38 gene.Autosomal Recessive Robinow SyndromeA Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfis Autosomal Recessive Robinow Syndrome 2A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with antever Autosomal Recessive Segawa SyndromeA dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that is caused by homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15.Autosomal Recessive Sensory Neuropathy with Spastic ParaplegiaA hereditary sensory and autonomic neuropathy that is caused by homozygous mutation in the CCT5 gene on chromosome 5p15.2.Autosomal Recessive Spinocerebellar Ataxia 10An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, is caused by mutation in the ANO10 gene.Autosomal Recessive Spinocerebellar Ataxia 11An autosomal recessive cerebellar ataxia that is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.Autosomal Recessive Spinocerebellar Ataxia 12An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that is caused by homozygous Autosomal Recessive Spinocerebellar Ataxia 13An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that is caused by homozygous mutation in the GRM1 gene on chromosome 6q24.Autosomal Recessive Spinocerebellar Ataxia 14An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disabil Autosomal Recessive Spinocerebellar Ataxia 15An autosomal recessive cerebellar ataxia that is caused by homozygous mutation in the RUBCN gene on chromosome 3q29.Autosomal Recessive Spinocerebellar Ataxia 16An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that is caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 1 Autosomal Recessive Spinocerebellar Ataxia 17An autosomal recessive cerebellar ataxia that is caused by homozygous mutation in the CWF19L1 gene on chromosome 10q24.Autosomal Recessive Spinocerebellar Ataxia 18An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that is c Autosomal Recessive Spinocerebellar Ataxia 19An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that is caused by homozygous mutation in the SLC9A1 Autosomal Recessive Spinocerebellar Ataxia 2An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and is caused by homozy Autosomal Recessive Spinocerebellar Ataxia 20An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that is caused b Autosomal Recessive Spinocerebellar Ataxia 21An autosomal recessive cerebellar ataxia that is caused by homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.Autosomal Recessive Spinocerebellar Ataxia 22An autosomal recessive cerebellar ataxia that is caused by homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2.Autosomal Recessive Spinocerebellar Ataxia 23An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that is caused by homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3.Autosomal Recessive Spinocerebellar Ataxia 24An autosomal recessive cerebellar ataxia that is caused by homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1.Autosomal Recessive Spinocerebellar Ataxia 25An autosomal recessive cerebellar ataxia that is caused by homozygous mutation in the ATG5 gene on chromosome 6q21.Autosomal Recessive Spinocerebellar Ataxia 26An autosomal recessive cerebellar ataxia that is caused by compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.Autosomal Recessive Spinocerebellar Ataxia 27An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that is caused by homozygous or compound heterozygous mutation in the GDAP2 gene on chromo Autosomal Recessive Spinocerebellar Ataxia 28An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that is caused by homozygous mut Autosomal Recessive Spinocerebellar Ataxia 29An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectua Autosomal Recessive Spinocerebellar Ataxia 30An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that is caused by homozygous Autosomal Recessive Spinocerebellar Ataxia 31An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that is caused by homozygous or compound heterozygous mutati Autosomal Recessive Spinocerebellar Ataxia 32An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that is caused by homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26.Autosomal Recessive Spinocerebellar Ataxia 33An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that is caused by homozygous mu Autosomal Recessive Spinocerebellar Ataxia 34An autosomal recessive cerebellar ataxia that is caused by homozygous mutation in the CA8 gene on chromosome 8q12.1.Autosomal Recessive Spinocerebellar Ataxia 4An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that is caused by homozygous or compound heterozygous mutation in the VPS Autosomal Recessive Spinocerebellar Ataxia 6An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that is caused by homozygous or compound heterozygous mutation in a region on Autosomal Recessive Spinocerebellar Ataxia 7An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that is caused by compound he Autosomal Recessive Spinocerebellar Ataxia 8An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment,Autosomal Recessive Spondyloepiphyseal Dysplasia TardaA spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease.Autosomal Recessive Thrombophilia Due to Protein C DeficiencyA protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that is caused by homozygous or compound heterozygous mutation in the PROC gene Autosomal Recessive Thrombophilia Due to Protein S DeficiencyA protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that is caused by homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1.Autosomal Recessive Type IV Ehlers-Danlos SyndromeAn Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acro Autosomal Recessive Whistling Face SyndromeA Freeman-Sheldon syndrome that has autosomal recessive inheritance.Autosomal Recessive Woolly Hair 3A familial woolly hair syndrome that is caused by homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2.AutotopagnosiaAn agnosia that is a loss of the ability to orient parts of the body.Avian InfluenzaAn influenza that results in infection located in respiratory tract of humans, domestic and wild birds, is caused by Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poult Avoidant Personality DisorderA personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction.Avoidant/Restrictive Food Intake DisorderAn eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss.Axenfeld-Rieger SyndromeAn eye disease characterized by anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and abdominal wall defects.Axenfeld-Rieger Syndrome Type 1An Axenfeld-Rieger syndrome characterized by abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals that is caused by heterozygous mut Axenfeld-Rieger Syndrome Type 2An Axenfeld-Rieger syndrome characterized by bnormal development of the anterior segment of the eye, which results in blindness from glaucoma in approximately 50% of affected individuals that is caused by deletions in th Axenfeld-Rieger Syndrome Type 3An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxi Axial OsteomalaciaAn osteosclerosis that causes coarsening in trabecular bone.Axial Spondylometaphyseal DysplasiaA spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that is caused by homozygous or compound heterozygous mutation in th Axillary LipomaAn thoracic benign neoplasm that is in the axilla, an area directly under the arm and shoulder joint composed of adipose tissue.Ayme-Gripp SyndromeA syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that is caused by heterozygous muta AzoospermiaA male infertility disease characterized by the absence of any measurable level of sperm in semen.Aztreonam AllergyA beta-lactam allergy that triggered by aztreonam.

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