Skip to main content

← All communities

Conditions

Starting with C

Private, moderated rooms - one per condition - with verified information and people who get it.

C1 Inhibitor DeficiencyA complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAn amyotrophic lateral sclerosis that is caused by mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.CADASILA leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.Caffey DiseaseA bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and Calcaneonavicular CoalitionA synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.CalcinosisA calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.Calcium Oxalate NephrolithiasisA nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that is caused by compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.Calvarial Doughnut Lesions with Bone FragilityAn osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.Campomelic DysplasiaAn osteochondrodysplasia that is caused by heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremitie Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeA syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial Camptodactyly-Tall Stature-Scoliosis-Hearing Loss SyndromeA syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that is caused by partial loss of function in the FGFR3 gene on chromosome 4p16.CampylobacteriosisA primary bacterial infectious disease that causes infection in intestine, is caused by Campylobacter jejuni, which is transmitted by ingestion of contaminated food or water or transmitted by contact with infected people Camurati-Engelmann DiseaseAn osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones.Camurati-Engelmann Disease 1An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that is caused by domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 1 Camurati-Engelmann Disease 2An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that is caused by heterozygous mutation in the TGFB2 gene on chromosome 1q41.Canavan DiseaseA rare genetic disorder affecting the brain's white matter.Candidal ParonychiaA candidiasis that causes fungal infection of the outer-most layer in nail, is caused by Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail CandidiasisA fungal infection caused by yeast.Cannabis AbuseA substance abuse that involves the recurring use of cannabis despite negative consequences.Cannabis DependenceA drug dependence that involves the continued use of cannabis despite problems related to use of the substance.Capgras SyndromeA delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor.CapillariasisA parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species.Capillary DiseaseA vascular disease that is in the capillaries.Capillary HemangiomaA hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells.Capillary Leak SyndromeA capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.Caplan'S SyndromeA pneumoconiosis that causes humans that also have rheumatoid arthritis.Carbamazepine AllergyA drug allergy that triggered by carbamazepine.Carbamoyl Phosphate Synthetase I Deficiency DiseaseA urea cycle disorder that involves accumulation of ammonia in the blood.Carbapenem AllergyA drug allergy that triggered by carbapenems.Carbohydrate Metabolic DisorderAn inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.Carboxypeptidase N DeficiencyA plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that is caused by homo Carcinoid TumorA slow-growing neuroendocrine tumor.CarcinomaA cell type cancer that is caused by abnormally proliferating cells arises from epithelial cells.CarcinosarcomaA mixed cell type cancer that is caused by carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.Cardia CancerA cancer in the gastric cardia.Cardiac ArrestA congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.Cardiac SarcoidosisA sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops from a type IV hypersensitivity react Cardiac TamponadeA pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch.Cardiac TuberculosisA tuberculosis located in the heart.Cardiofaciocutaneous SyndromeA RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and sk Cardiofaciocutaneous Syndrome 1A cardiofaciocutaneous syndrome that is caused by heterozygous mutation in the BRAF gene on chromosome 7q34.Cardiofaciocutaneous Syndrome 2A cardiofaciocutaneous syndrome that is caused by heterozygous mutation in the KRAS gene on chromosome 12p12.1.Cardiofaciocutaneous Syndrome 3A cardiofaciocutaneous syndrome that is caused by heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31.Cardiofaciocutaneous Syndrome 4A cardiofaciocutaneous syndrome that is caused by heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.CardiomyopathyA disease of the heart muscle that makes it harder to pump blood. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cardiovascular CancerAn organ system cancer that in the heart and blood vessels.Cardiovascular-Kidney-Metabolic SyndromeA syndrome characterized by multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors as Cardiovascular Organ Benign NeoplasmAn organ system benign neoplasm disease in the blood, heart, blood vessels or the lymphatic system.Cardiovascular SyphilisA tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arterie Carey-Fineman-Ziter SyndromeA syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed Carey-Fineman-Ziter Syndrome 1A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cl Carey-Fineman-Ziter Syndrome 2A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that is caused byhomozygous mutation in MY Carney ComplexA syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.Carney-Stratakis SyndromeA syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.Carnitine-Acylcarnitine Translocase DeficiencyA lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic acidur Carnitine Palmitoyltransferase I DeficiencyA lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and Carnitine Palmitoyltransferase II DeficiencyA lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.Caroli DiseaseA bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.Caroli SyndromeA syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.CarotenemiaAn acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood.Carotid Artery DiseaseNarrowing of the carotid arteries supplying the brain.Carotid Body CancerA vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery.Carp AllergyA fish allergy triggered by Cyprinus carpio.Carpal Tunnel SyndromePressure on a nerve in the wrist causes numbness and pain. Tracking your symptoms and connecting with others who understand can help you manage day to day.Carpal Tunnel Syndrome 1A carpal tunnel syndrome that is caused by heterozygous mutation in the TTR gene on chromosome 18q12.1.Carpal Tunnel Syndrome 2A carpal tunnel syndrome that is caused by heterozygous mutation in the COMP gene on chromosome 19p13.11.Carpenter SyndromeAn acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.Carpenter Syndrome 1A Carpenter syndrome that is caused by homozygous mutation in the RAB23 gene on chromosome 6p11.Carpenter Syndrome 2A Carpenter syndrome characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia,Carrion'S DiseaseA bartonellosis that causes infection in endothelial cells or in red blood cells, is caused by Bartonella bacilliformis, which is transmitted by sandflies of genus Lutzomyia. The infection has acute and chronic phases. T Cartilage CancerA connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.Cartilage DiseaseA connective tissue disease that is in cartilage.Cartilage-Hair HypoplasiaAn ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that is caused by homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3.Carvajal SyndromeA Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that is caused by homozygous mutation in the desmoplakin gene on chromosome 6p24.Carvone Allergic Contact DermatitisAn allergic contact dermatitis that triggered by (-)-carvone.CASGID SyndromeA syndrome characterized by an elevated glutamate to glutamine ratio and impaired intellectual development with the variable features of infantile cataract, skin abnormalities, seizures, and progressive spastic quadriple Castleman DiseaseA lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically.Castration-Resistant Prostate CarcinomaA prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.CataractClouding of the eye's lens that blurs vision.Cataract 10 Multiple TypesA cataract that is caused by heterozygous mutation in the CRYBA1 gene on chromosome 17q11.Cataract 11 Multiple TypesA cataract that is caused by heterozygous mutation in the PITX3 gene on chromosome 10q24.Cataract 12 Multiple TypesA cataract that is caused by heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.Cataract 13 with Adult I PhenotypeA cataract that is caused by homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.Cataract 14 Multiple TypesA cataract that is caused by heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.Cataract 15 Multiple TypesA cataract that is caused by heterozygous mutation in the MIP gene on chromosome 12q13.Cataract 16 Multiple TypesA cataract that is caused by heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.Cataract 17 Multiple TypesA cataract that is caused by heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.Cataract 18A cataract that is caused by homozygous mutation in the FYCO1 gene on chromosome 3p21.3.Cataract 19 Multiple TypesA cataract that is caused by homozygous mutation in the LIM2 gene on chromosome 19q13.Cataract 1 Multiple TypesA cataract that is caused by heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.Cataract 20 Multiple TypesA cataract that is caused by heterozygous mutation in the CRYGS gene on chromosome 3q27.Cataract 21 Multiple TypesA cataract that is caused by heterozygous mutation in the MAF gene on chromosome 16q23.Cataract 22 Multiple TypesA cataract that is caused by heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.Cataract 23A cataract that is caused by heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12.Cataract 24A cataract that is caused by variation in the region 17p13.Cataract 25A cataract that is caused by variation in the region 15q21-q22.Cataract 26 Multiple TypesA cataract that is caused by variation in the region 9q13-q22.Cataract 27A cataract that is caused by mutation in the region 2p12.Cataract 28A cataract that is caused by variation in the region 6p12-q12.Cataract 29A cataract that is caused by variation in the region 2pter-p24.Cataract 2 Multiple TypesA cataract that is caused by heterozygous mutation in the CRYGC gene on chromosome 2q33.Cataract 30A cataract that is caused by heterozygous mutation in the VIM gene on chromosome 10p13.Cataract 31 Multiple TypesA cataract that is caused by heterozygous mutation in the CHMP4B gene on chromosome 20q11.Cataract 32 Multiple TypesA cataract that is caused by mutation in the region 14q22-q23.Cataract 33A cataract that is caused by homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.Cataract 34 Multiple TypesA cataract that is caused by variation in the region 1p34.3-p32.2.Cataract 35A cataract that is caused by variation in the region 19q13.Cataract 36A cataract that is caused by homozygous mutation in the TDRD7 gene on chromosome 9q22.33.Cataract 37A cataract that is caused by variation in the region 12q24.2-q24.3.Cataract 38A cataract that is caused by homozygous mutation in the AGK gene on chromosome 7q34.Cataract 39 Multiple TypesA cataract that is caused by heterozygous mutation in the CRYGB gene on chromosome 2q34.Cataract 3 Multiple TypesA cataract that is caused by heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.Cataract 40A cataract that is caused by mutation in the NHS gene on chromosome Xp22.Cataract 41A cataract that is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16.Cataract 42A cataract that is caused by heterozygous mutation in the CRYBA2 gene on chromosome 2q35.Cataract 43A cataract that is caused by heterozygous mutation in the UNC45B gene on chromosome 17q12.Cataract 44A cataract that is caused by homozygous mutation in the LSS gene on chromosome 21q22.Cataract 45A cataract that is caused by homozygous mutation in the SIPA1L3 gene on chromosome 19q13.Cataract 46 Juvenile-OnsetA cataract that is caused by homozygous mutation in the LEMD2 gene on chromosome 6p21.Cataract 47A cataract that is caused by heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea.Cataract 48A cataract that is caused by homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.Cataract 4 Multiple TypesA cataract that is caused by heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.Cataract 5 Multiple TypesA cataract that is caused by heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.Cataract 6 Multiple TypesA cataract that is caused by heterozygous mutation in the EPHA2 gene on chromosome 1p36.Cataract 7A cataract that is caused by variation in the region 17q24.Cataract 8 Multiple TypesA cataract that is caused by variation in the region 1pter-p36.13.Cataract 9 Multiple TypesA cataract that is caused by autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22.Cataract, Alopecia, Oral Mucosal Disorder, and Psoriasis-Like SyndromeA syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extrem CataractsClouding of the eye's lens that blurs vision. Tracking your symptoms and connecting with others who understand can help you manage day to day.Catecholaminergic Polymorphic Ventricular TachycardiaA rare inherited arrhythmia triggered by stress.Catel Manzke SyndromeA bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted be Cat-Scratch DiseaseA bartonellosis that causes infection in lymph node, is caused by Bartonella henselae or is caused by Bartonella clarridgeiae, which are transmitted by scratch or bite of a kitten, or transmitted by contact of animal's s Cauda Equina Neuroendocrine TumorA cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.Cauda Equina SyndromeA peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.Caudal Regression SyndromeA physical disorder that is characterized by impairment of the development of the lower half of the body.Cavernous MalformationA cluster of abnormal blood vessels in the brain.Cayman Type Cerebellar AtaxiaAn autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic g CD3delta DeficiencyA severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.CD3epsilon DeficiencyA severe combined immunodeficiency that is caused by autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect CD3gamma DeficiencyA severe combined immunodeficiency that is caused by autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in t CD3zeta DeficiencyA severe combined immunodeficiency that affects the development and function of T cells.CD40 Ligand DeficiencyA combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on a CD45 DeficiencyA severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the C. difficile InfectionA bacterial infection of the colon often after antibiotic use.Cecal Benign NeoplasmAn intestinal benign neoplasm that is in the cecum.Cecal DiseaseAn intestinal disease in the cecum.Cecum AdenocarcinomaA cecum carcinoma that arises from epithelial cells of glandular origin.Cecum AdenomaA cecal benign neoplasm that is caused by epithelial tissue with glandular origin.Cecum CancerA large intestine cancer that is in the cecum.Cecum CarcinomaA cecum cancer that is caused by abnormally proliferating cells arises from epithelial cells.CEDNIK SyndromeA syndrome that is caused by homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, fa Cefaclor AllergyA cephalosporin allergy that triggered by cefaclor.Cefixime AllergyA cephalosporin allergy that triggered by cefixime.Cefotaxime AllergyA cephalosporin allergy that triggered by cefotaxime.Cefotiam AllergyA cephalosporin allergy that triggered by cefotiam.Ceftazidime AllergyA cephalosporin allergy that triggered by ceftazidime.Ceftriaxone AllergyA cephalosporin allergy that triggered by ceftriaxone.Cefuroxime AllergyA cephalosporin allergy that triggered by cefuroxime.Celery AllergyA vegetable allergy triggered by celery (Apium graveolens).Celiac DiseaseAn immune reaction to gluten that damages the small intestine. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cell Type Benign NeoplasmA benign neoplasm that is classified by the type of cell or tissue from which it is derived.Cell Type CancerA cancer that is classified by the type of cell from which it is derived.Cellular LeiomyomaA leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures.Cellular Myxoid LiposarcomaA liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.Cellular SchwannomaA neurilemmoma with a predominantly cellular growth but no Verocay bodies.CellulitisA bacterial infection of the deeper skin layers.Cenani-Lenz Syndactyly SyndromeA dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that is caused by homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11 Central Breast PapillomaA breast duct papilloma that is in a major duct.Central Conducting Lymphatic AnomalyA lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that is caused by hetero Central Corneal UlcerA corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms.Central Diabetes InsipidusA diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis.Central Nervous System AngiosarcomaA central nervous system sarcoma that is in the inner lining of blood vessels.Central Nervous System Benign NeoplasmA nervous system benign neoplasm that is characterized by lack of malignancy.Central Nervous System CancerA nervous system cancer that is in the central nervous system.Central Nervous System DiseaseA nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system.Central Nervous System Embryonal TumorA central nervous system cancer of children and young adults that develops from neural crest cells in cerebrum, is caused by abnormally proliferating cells arises from neuroectoderm.Central Nervous System Germ Cell TumorA central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain a Central Nervous System Hematologic CancerA hematologic cancer and central nervous system neoplasm that is in the central nervous system.Central Nervous System Immature TeratomaA malignant teratoma that is in the central nervous system.Central Nervous System LeiomyomaA central nervous system benign neoplasm that arises from smooth muscle cells.Central Nervous System LeiomyosarcomaA leiomyosarcoma that is in the central nervous system.Central Nervous System LeukemiaA leukemia in the central nervous system.Central Nervous System LipomaA central nervous system benign neoplasm that arises from fat cells.Central Nervous System LymphomaA hematologic cancer that is caused by lymphoma in central nervous system.Central Nervous System Mature TeratomaA mature teratoma that is in the central nervous system.Central Nervous System Melanocytic NeoplasmA central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, is caused by abnormally proliferating cells arises from neural crest cells.Central Nervous System Mesenchymal Non-Meningothelial TumorA central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, is caused by abnormally proliferating cells arises from mesoderm.Central Nervous System NeuroblastomaA central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the ce Central Nervous System Origin VertigoA brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, causes dizziness, causes nausea, causes vomiting Central Nervous System SarcomaA central nervous system cancer develops from transformed cells of mesenchymal origin in brain and spine, is caused by abnormally proliferating cells arises from mesoderm.Central Nervous System TeratomaA teratoma that is in the central nervous system.Central Nervous System TuberculosisAn extrapulmonary tuberculosis that results in formation of tuberculomas in brain or in spinal cord.Central Nervous System Tumor with BCOR Internal Tandem DuplicationA central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in e Central Nervous System VasculitisA vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.Central Pontine MyelinolysisA demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and causes acute paralysis, causes dysphagia, and causes dysarthria.Central Precocious PubertyAn endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys Central Precocious Puberty 1A central precocious puberty that is caused by heterozygous mutation in the KISS1R gene on chromosome 19p13.Central Precocious Puberty 2A central precocious puberty that is caused by heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2.Central PterygiumA progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and causes fleshy bumps on the surface of the eye, foreign body Central Retinal Artery OcclusionA retinal artery occlusion characterized by blockage of blood flow through the central retinal artery.Central Sleep ApneaA sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.Centronuclear MyopathyA congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.Centronuclear Myopathy 1An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that is caused by heterozygous mutation in DNM2 on 19 Centronuclear Myopathy 2An autosomal recessive centronuclear myopathy that is caused by homozygous or compound heterozygous mutation in BIN1 on 2q14.3.Centronuclear Myopathy 4An autosomal dominant centronuclear myopathy that is caused by heterozygous mutation in CCDC78 on 16p13.3.Centronuclear Myopathy 5An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that is caused by homozygous or compound heterozygous mutation in SPEG on 2q35.Centronuclear Myopathy 6 with Fiber-Type DisproportionAn autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that is caused by homozygous or compound heterozygous mutation in th Centronuclear Myopathy X-LinkedA centronuclear myopathy that is caused by X-linked inheritance of mutations in MTM1 on Xq28.Cepacia SyndromeAn opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that is caused by Burkholderia cepacia complex, which is transmitted by contact tr Cephalosporin AllergyA drug allergy that triggered by cephalosporin.Cercarial DermatitisA schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has s Cerebellar AtaxiaA hereditary ataxia that is characterized by ataxia originating in the cerebellum.Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium SyndromeA syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeA syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that is caused by homozygous or compou Cerebellar Ataxia Type 41An autosomal dominant cerebellar ataxia that is caused by heterozygous mutation in the TRPC3 gene on chromosome 4q27.Cerebellar Ataxia Type 42An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that is caused by heterozygous mutation Cerebellar Ataxia Type 43An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that is caused by heterozyg Cerebellar Ataxia Type 47An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that is cau Cerebellar Ataxia Type 48An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that is caused by heterozygous mutation in the STUB1 gene on chromosome 16p13.3.Cerebellar Ataxia Type 9An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI.Cerebellar Atrophy, Developmental Delay, and SeizuresAn autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy, seizures, and severe developmental delay, including the inability to walk and speech limited to a few words only, that is ca Cerebellar Atrophy, Visual Impairment, and Psychomotor RetardationA syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that is caused by homozygous mutation in the EMC1 gene on chromosome 1p36.Cerebellar Atrophy with Seizures and Variable Developmental DelayAn autosomal recessive intellectual developmental disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging, seizures, and variable developmental delay that is caused b Cerebellar DiseaseA brain disease that is characterized by damage to brain substance in cerebellum; causes ataxia, causes dysarthria, and causes cerebellar cognitive affective syndrome.Cerebellar Hyplasia/Atrophy, Epilepsy, and Global Developmental DelayA syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced langu Cerebellar HypoplasiaA cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.Cerebellar LiponeurocytomaA cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation.Cerebellar MedulloblastomaA cerebellum cancer that begins in the lower part of the brain on the floor of the skull.Cerebellofaciodental SyndromeA syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that is caused by homozygous or compound heterozygous mutation in the B Cerebellopontine Angle TumorA brain stem cancer that is characterized by neoplasms in the fossa in cerebellopontine angle.Cerebral Amyloid AngiopathyAn amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progre Cerebral AngiomaA brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, is caused by abnormally proliferating cells, arises from endothelial cells in and about the vascula Cerebral Artery OcclusionA cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.Cerebral AtherosclerosisAn atherosclerosis of the cerebral vasculature.Cerebral Cavernous MalformationA cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.Cerebral Cavernous Malformation 1A cerebral cavernous malformation that is caused by heterozygous mutation in the KRIT1 gene on chromosome 7q21.Cerebral Cavernous Malformation 2A cerebral cavernous malformation that is caused by mutation in the CCM2 gene on chromosome 7p13.Cerebral Cavernous Malformation 3A cerebral cavernous malformation that is caused by mutation in the PDCD10 gene on chromosome 3q26.1.Cerebral Creatine Deficiency SyndromeAn amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, is caused by mutation in the creatine transporter gene on chromosome Xq28.Cerebral Creatine Deficiency Syndrome 1A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, is caused by mutation in the SLC6A8 gene on chromosome Xq28.Cerebral DegenerationA brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue.Cerebral Folate Receptor Alpha DeficiencyA vitamin metabolic disorder that is caused by mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is in the brain and is characterized by progressive movement disturbance, psychom Cerebral InfarctionA cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.Cerebral LymphomaA cerebrum cancer that affects the lymph cells and arises from the brain.Cerebral MalariaA malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.Cerebral NeuroblastomaA brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that is caused by abnormally proliferating cells and arises from precursor cells called blast cells.Cerebral PalsyA group of disorders affecting movement and coordination from early life. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cerebral Ventricle CancerA cerebrum cancer that is in the cerebral ventricles.CerebritisA brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition.Cerebrocostomandibular SyndromeA syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that is caused by heterozygous mutation in SNRPB on 20p13.Cerebrooculofacioskeletal SyndromeA Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.Cerebrooculofacioskeletal Syndrome 1A cerebrooculofacioskeletal syndrome that is caused by homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11.Cerebrooculofacioskeletal Syndrome 2A cerebrooculofacioskeletal syndrome that is caused by compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13.Cerebrooculofacioskeletal Syndrome 3A cerebrooculofacioskeletal syndrome that is caused by homozygous mutation in the ERCC5 gene on chromosome 13q33.Cerebrooculofacioskeletal Syndrome 4A cerebrooculofacioskeletal syndrome that is caused by homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.Cerebrotendinous XanthomatosisA xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that is caused by homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-Cerebrovascular Benign NeoplasmA cardiovascular organ benign neoplasm that is in the cerebrovascular system.Cerebrovascular DiseaseAn vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.Cerebrum CancerA supratentorial cancer that is in the cerebrum.Cervical AdenocarcinomaA cervix carcinoma that arises from epithelial cells of glandular origin.Cervical AdenofibromaA cervical benign neoplasm that is is caused by glandular and fibrous tissues, with a relatively large proportion of glands.Cervical Adenoid Basal CarcinomaA cervix carcinoma that is caused by epithelium and is characterized by the presence of small, well differentiated, rounded nests of basaloid cells.Cervical Adenoid Cystic CarcinomaA cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. C Cervical Adenoma MalignumA cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma.Cervical AdenomyomaA cervical benign neoplasm that is caused by gland and muscle components.Cervical AdenosarcomaA cervical carcinosarcoma that is in the cervix.Cervical Adenosquamous CarcinomaA cervical carcinoma that arises from squamous cells and gland-like cells.Cervical Alveolar Soft Part SarcomaAn alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is in the cervix.Cervical Atypical Polypoid AdenomyomaA cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma.Cervical Basaloid Squamous Cell CarcinomaA cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm.Cervical Benign NeoplasmA female reproductive organ benign neoplasm that is in the cervix.Cervical CancerCancer of the cervix. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cervical CarcinosarcomaA cervical cancer that is caused by carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.Cervical Clear Cell AdenocarcinomaA cervical adenocarcinoma that arises from epithelial cells which have clear cytoplasm.Cervical DystoniaA focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily t Cervical Endometrial Stromal SarcomaA cervix endometrical stromal tumor that is caused by abnormally proliferating cells arises from embryonic mesoderm.Cervical Endometrioid AdenocarcinomaA cervical adenocarcinoma that arises from endometrial epithelial cells of glandular origin.Cervical IncompetenceA cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.Cervical Keratinizing Squamous Cell CarcinomaA cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.Cervical Large Cell Neuroendocrine CarcinomaA cervix carcinoma that is caused by neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and Cervical Lymphoepithelioma-Like CarcinomaA cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei Cervical Mucinous AdenocarcinomaA cervical adenocarcinoma that arises from mucin producing epithelial cells.Cervical Mullerian PapillomaA cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasi Cervical NeuroblastomaAn extracranial neuroblastoma that is caused by immature nerve cells.Cervical Non-Keratinizing Squamous Cell CarcinomaA cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present.Cervical PolypA cervix disease characterized by a benign polyp on the surface of the cervical canal.Cervical Serous AdenocarcinomaA cervical adenocarcinoma that arises from epithelial cells originating in glandular tissue forming serous lesions.Cervical SpondylosisAge-related wear and tear of the neck spine.Cervical Squamous Cell CarcinomaA cervix carcinoma that is caused by squamous cells of the cervix.Cervical Verrucous CarcinomaA cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that Cervical Wilms' TumorA cervical carcinosarcoma is in the cervix with morphological features resembling Wilms tumor of the kidney.CervicitisA cervix disease that is characterized by inflammation of the cervix.Cervix CarcinomaA cervical cancer that is in the cervix uteri or in the cervical area and that is caused by abnormally proliferating cells arises from epithelial cells.Cervix DiseaseAn uterine disease that is in the cervix.Cervix Endometrial Stromal TumorA cervical cancer that arises from the fibrous connective tissue of the endometrium.Cervix EndometriosisA cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.Cervix ErosionA cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix.Cervix MelanomaA cervical cancer that is caused by abnormally proliferating cells arises from melanocytes.Cervix Squamous PapillomaA cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium.Cervix Uteri Carcinoma in SituAn uterus carcinoma in situ that is in the uterine cervix.Chagas DiseaseA trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the su Chanarin-Dorfman SyndromeA lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.ChancroidA primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, is caused by Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful Chandler SyndromeA corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from Chapare Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Chapare virus (Mammarenavirus chapareense). The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting,Charcot-Marie-Tooth DiseaseA group of inherited disorders affecting peripheral nerves.Charcot-Marie-Tooth Disease Axonal Type 2CA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the TRPV4 gene on chromosome 12q24.Charcot-Marie-Tooth Disease Axonal Type 2CCA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the NEFH gene on chromosome 22q12.Charcot-Marie-Tooth Disease Axonal Type 2FA Charcot-Marie-Tooth disease type 2 that is caused by mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).Charcot-Marie-Tooth Disease Axonal Type 2HA Charcot-Marie-Tooth disease type 2 that is caused by variation in the region 8q13-q23.Charcot-Marie-Tooth Disease Axonal Type 2JJA Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that is caused by heterozygous mut Charcot-Marie-Tooth Disease Axonal Type 2KA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.Charcot-Marie-Tooth Disease Axonal Type 2LA Charcot-Marie-Tooth disease type 2 that is caused by mutation in the HSPB8 gene.Charcot-Marie-Tooth Disease Axonal Type 2NA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the AARS gene on chromosome 16q21.Charcot-Marie-Tooth Disease Axonal Type 2OA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.Charcot-Marie-Tooth Disease Axonal Type 2PA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.Charcot-Marie-Tooth Disease Axonal Type 2QA Charcot-Marie-Tooth disease type 2 that is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.Charcot-Marie-Tooth Disease Axonal Type 2SA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.Charcot-Marie-Tooth Disease Axonal Type 2TA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.Charcot-Marie-Tooth Disease Axonal Type 2UA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the MARS gene on chromosome 12q13.Charcot-Marie-Tooth Disease Axonal Type 2VA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the NAGLU gene on chromosome 17q21.Charcot-Marie-Tooth Disease, Axonal Type 2WA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the HARS gene on chromosome 5q31.Charcot-Marie-Tooth Disease Axonal Type 2XA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21.Charcot-Marie-Tooth Disease Axonal Type 2ZA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the MORC2 gene on chromosome 22q12.Charcot-Marie-Tooth Disease Dominant Intermediate aA Charcot-Marie-Tooth disease intermediate type that is caused by variation in the region 10q24.1-q25.1.Charcot-Marie-Tooth Disease Intermediate TypeA Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s.Charcot-Marie-Tooth Disease Recessive Intermediate aA Charcot-Marie-Tooth disease intermediate type that is caused by homozygous mutation in the GDAP1 gene on chromosome 8q21.Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons.Charcot-Marie-Tooth Disease Type 1AA Charcot-Marie-Tooth disease type 1 that is caused by duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).Charcot-Marie-Tooth Disease Type 1BA Charcot-Marie-Tooth disease type 1 that is caused by heterozygous mutation in the gene encoding myelin protein zero (MPZ).Charcot-Marie-Tooth Disease Type 1CA Charcot-Marie-Tooth disease type 1 that is caused by heterozygous mutation in the LITAF gene on chromosome 16p13.Charcot-Marie-Tooth Disease Type 1DA Charcot-Marie-Tooth disease type 1 that is caused by mutation in the early growth response gene-2 (EGR2).Charcot-Marie-Tooth Disease Type 1EA Charcot-Marie-Tooth disease type 1 that is caused by autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).Charcot-Marie-Tooth Disease Type 1FA Charcot-Marie-Tooth disease type 1 that is caused by mutation in the NEFL gene.Charcot-Marie-Tooth Disease Type 1GA Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that is caused by heterozygous mutation in the PMP2 gene on chromosome 8q21.13.Charcot-Marie-Tooth Disease Type 2A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.Charcot-Marie-Tooth Disease Type 2A1A Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the KIF1B gene on chromosome 1p36.Charcot-Marie-Tooth Disease Type 2A2AA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the MFN2 gene on chromosome 1p36.22.Charcot-Marie-Tooth Disease Type 2A2BA Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that is caused by homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.Charcot-Marie-Tooth Disease Type 2BA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the RAB7 gene on chromosome 3q21.Charcot-Marie-Tooth Disease Type 2B1A Charcot-Marie-Tooth disease type 2 that is caused by homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.Charcot-Marie-Tooth Disease Type 2B2A Charcot-Marie-Tooth disease type 2 that is caused by homozygous mutation in the MED25 gene.Charcot-Marie-Tooth Disease Type 2DA Charcot-Marie-Tooth disease type 2 that is caused by mutation in the GARS1 gene.Charcot-Marie-Tooth Disease Type 2DDA Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that is caused by heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.Charcot-Marie-Tooth Disease Type 2EA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.Charcot-Marie-Tooth Disease Type 2EEA Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that is caused by homozygous or compound he Charcot-Marie-Tooth Disease Type 2IA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.Charcot-Marie-Tooth Disease Type 2JA Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and is caused by heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.Charcot-Marie-Tooth Disease Type 2KKA Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that is caused by homo Charcot-Marie-Tooth Disease Type 2RA Charcot-Marie-Tooth disease type 2 that is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.Charcot-Marie-Tooth Disease Type 2YA Charcot-Marie-Tooth disease type 2 that is caused by heterozygous mutation in the VCP gene on chromosome 9p13.Charcot-Marie-Tooth Disease Type 3A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.Charcot-Marie-Tooth Disease Type 4A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that is caused by autosomal recessive inheritance.Charcot-Marie-Tooth Disease Type 4AA Charcot-Marie-Tooth disease type 4 that is caused by mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.Charcot-Marie-Tooth Disease Type 4B1A Charcot-Marie-Tooth disease type 4 that is caused by mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).Charcot-Marie-Tooth Disease Type 4B2A Charcot-Marie-Tooth disease type 4 that is caused by mutation in the SBF2 gene.Charcot-Marie-Tooth Disease Type 4B3A Charcot-Marie-Tooth disease type 4 that is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.Charcot-Marie-Tooth Disease Type 4CA Charcot-Marie-Tooth disease type 4 that is caused by homozygous or compound heterozygous mutation in the SH3TC2 gene.Charcot-Marie-Tooth Disease Type 4DA Charcot-Marie-Tooth disease type 4 that is caused by homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.Charcot-Marie-Tooth Disease Type 4FA Charcot-Marie-Tooth disease type 4 that is caused by homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13.Charcot-Marie-Tooth Disease Type 4GA Charcot-Marie-Tooth disease type 4 that is caused by homozygous mutation in the HK1 gene on chromosome 10q22.Charcot-Marie-Tooth Disease Type 4HA Charcot-Marie-Tooth disease type 4 that is caused by mutations in the gene encoding frabin (FGD4).Charcot-Marie-Tooth Disease Type 4JA Charcot-Marie-Tooth disease type 4 that is caused by compound heterozygous mutations in the FIG4 gene on chromosome 6q21.Charcot-Marie-Tooth Disease Type 4KA Charcot-Marie-Tooth disease type 4 that is caused by homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.Charcot-Marie-Tooth Disease Type 5A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.Charcot-Marie-Tooth Disease Type 6A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity.Charcot-Marie-Tooth Disease Type 7A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa.Charcot-Marie-Tooth Disease Type XA Charcot-Marie-Tooth disease that is caused by X-linked inheritance of a point mutation in the connexin-32 gene.Charcot-Marie-Tooth Disease X-Linked Dominant 1A Charcot-Marie-Tooth disease X-linked that is caused by hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.Charcot-Marie-Tooth Disease X-Linked Dominant 6A Charcot-Marie-Tooth disease X-linked that is caused by mutation in the PDK3 gene on chromosome Xp22.Charcot-Marie-Tooth Disease X-Linked Recessive 2A Charcot-Marie-Tooth disease X-linked that is caused by variation in the region Xp22.2.Charcot-Marie-Tooth Disease X-Linked Recessive 3A Charcot-Marie-Tooth disease X-linked that is caused by variation in the region Xq26.Charcot-Marie-Tooth Disease X-Linked Recessive 4A Charcot-Marie-Tooth disease X-linked that is caused by mutation in the AIFM1 gene on chromosome Xq26.Charcot-Marie-Tooth Disease X-Linked Recessive 5A Charcot-Marie-Tooth disease X-linked that is caused by loss-of-function mutation in the PRPS1 gene on chromosome Xq22.CHARGE SyndromeA syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.Charlevoix-Saguenay Spastic AtaxiaAn autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, is caused by homozygous or compound heterozygous mutation in the gene e Char SyndromeA patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.Chediak-Higashi SyndromeA syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that is caused by homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene CheilitisA lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.Chemical ColitisA colitis caused by introduction of various chemicals.Cherry AllergyA fruit allergy triggered by Prunus avium plant fruit food product.CherubismA bone resorption disease characterized by replacement of bone in the jaws with fibrous tissue leading to facial swelling.Cherubism 1A cherubism that is caused by heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.Cherubism 2A cherubism that is caused by homozygous mutation in the OGFRL1 gene on chromosome 6q13.Chest Wall Bone CancerA bone cancer and malignant neoplasm of chest wall that is in the chest wall.Chest Wall LipomaA thoracic benign neoplasm that arises from fat cells and is in the chest wall.Chest Wall LymphomaA thoracic cancer that is in the chest wall.Chest Wall ParachordomaA parachordoma arising from the chest wall.Chiari MalformationBrain tissue extends into the spinal canal.Chiasmal SyndromeAn optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve.Chicken Egg AllergyAn egg allergy triggered by Gallus gallus eggs.ChickenpoxA highly contagious viral infection with an itchy, blistering rash.ChikungunyaA mosquito-borne virus causing fever and severe joint pain.Chilblain LupusA cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, is caused by autosomal dominant inheritance of mutation in the TREX1 gene Childhood Absence EpilepsyA childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.Childhood Acute Lymphocytic LeukemiaAn acute lymphocytic leukemia occurring during childhood.Childhood Acute Megakaryoblastic LeukemiaAn acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.Childhood Acute Myeloid LeukemiaA childhood acute myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.Childhood AngiosarcomaAn angiosarcoma that affects children.Childhood B-Cell Acute Lymphoblastic LeukemiaA childhood acute lymphoblastic leukemia that is caused by B-cells.Childhood Botryoid RhabdomyosarcomaA botryoid rhabdomyosarcoma that presents in childhood.Childhood Brain GerminomaA brain germinoma that is characterized by tumor of the germ cell in childhood that is caused by abnormally proliferating cells arises from germ cells, in pineal area and in suprasellar area.Childhood Brain MeningiomaA brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, is caused by abnormally proliferating cells arises from meningeal cells of e Childhood Brain Stem NeoplasmA brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, is caused by abnormally proliferating cells.Childhood Central Nervous System Embryonal TumorA central nervous system embryonal tumor that occurs in childhood.Childhood Central Nervous System Mixed Germ Cell TumorA central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth is caused by abnormally proliferating cells arises Childhood Choriocarcinoma of the OvaryA choriocarcinoma of the ovary that is present during childhood.Childhood Choriocarcinoma of the TestisA choriocarcinoma of the testis that is present during childhood.Childhood CNS ChoriocarcinomaA choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/ -HCG, is caused by abnormally proliferating cells, arises from germ cells.Childhood CNS Embryonal Cell CarcinomaA central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth is caused by abnormally proliferating cells arises from germ cel Childhood Disintegrative DiseaseA pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had pre Childhood Electroclinical SyndromeAn electroclinical syndrome with onset in childhood between one and 12 years of age.Childhood Embryonal Testis CarcinomaAn embryonal testis carcinoma that occurs in children.Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-AlteredAn embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.Childhood Endodermal Sinus TumorAn endodermal sinus tumor that occurs in children.Childhood Extraocular RetinoblastomaAn extraocular retinoblastoma that effects children.Childhood Extraosseous OsteosarcomaAn extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood.Childhood Germ Cell Brain TumorA central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth is caused by abnormally proliferating cells arises from Childhood Germ Cell CancerA germ cell cancer that presents in childhood.Childhood Hepatocellular CarcinomaA hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma.Childhood HypophosphatasiaA hypophosphatasia that is caused by an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.Childhood Immature Teratoma of OvaryAn immature teratoma of overy that presents in childhood.Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-AlteredA childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.Childhood Infratentorial NeoplasmA brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, is caused by abnormally proliferating cells.Childhood Intraocular RetinoblastomaAn intraocular retinoblastoma that effects children.Childhood LeukemiaA leukemia that occurs in children.Childhood Low-Grade GliomaA low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.Childhood Mature Teratoma of the OvaryA mature teratoma of the ovary that presents in childhood.Childhood Multilocular Cystic Kidney NeoplasmA kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.Childhood-Onset AsthmaA chronic asthma that is characterized by first presentation in early childhood.Childhood-Onset Dystonia with Optic Atrophy and Basal Ganglia AbnormalitiesA dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that is caused by homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Opti Childhood-Onset Neurodegeneration with Brain AtrophyA neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and pr Childhood Ovarian DysgerminomaA childhood ovarian germ cell tumor that arises from cells that give rise to egg cells.Childhood Ovarian Embryonal CarcinomaAn ovarian embryonal carcinoma that occurs in childhood.Childhood Ovarian Endodermal Sinus TumorAn ovarian endodermal sinus tumor that presents in childhood.Childhood Ovarian Germ Cell TumorAn ovarian germ cell cancer that presents in childhood.Childhood Pilocytic AstrocytomaA pilocytic astrocytoma that occurs during childhood.Childhood Renal Cell Carcinoma with MiT TranslocationsA renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.Childhood Round Cell Sarcoma with EWSR1-Non-ETS FusionA round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.Childhood Sarcoma with BCOR Genetic AlterationsA sarcoma with BCOR genetic alterations that occurs during childhood.Childhood Spinal Muscular AtrophyA spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that is caused by variation in the SMN gene.Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19MC-AlteredA childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.Childhood T-Cell Acute Lymphoblastic LeukemiaA childhood acute lymphoblastic leukemia that is caused by T-cells.Childhood Teratoma of the OvaryAn ovarian germ cell teratoma that presents in childhood.Childhood Vagina Botryoid RhabdomyosarcomaA vagina botryoid rhabdomyosarcoma that presents in childhood.CHILD SyndromeA syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that is caused by heterozygous mutation in the NSDHL gene on chromosome Xq28.CHIME SyndromeA syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that is caused by homozygous or compound heterozygous mutation in the PIGL g ChlamydiaA common bacterial sexually transmitted infection.Chlamydia PneumoniaA bacterial pneumonia is caused by Chlamydia pneumoniae.Chloramine T Respiratory AllergyA respiratory allergy that triggered by chloramine T.Chlorhexidine AllergyA drug allergy that triggered by chlorhexidine.CholangiocarcinomaA bile duct adenocarcinoma that is caused by bile duct epithelial cells.CholangitisA bile duct disease that is an inflammation of the bile duct.CholecystitisA cholangitis that is characterized by an inflammation that is located in the gallbladder.Choledochal CystA bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts.CholedocholithiasisA common bile duct disease characterized by the presence of at least one gallstone in the common bile duct.CholeraA bacterial infection causing severe watery diarrhea.CholestasisA bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.CholesteatomaAn abnormal skin growth in the middle ear.Cholesteatoma of External EarA cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery.Cholesterol EmbolismA vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream.Cholesterol Ester Storage DiseaseA lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.Cholesterol-Ester Transfer Protein DeficiencyA lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.Choline Deficiency DiseaseA nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly is caused by inadequate intake and exacerbated by a genetic predisp Cholinergic UrticariaA physical urticaria induced by sweating.ChondroblastomaA connective tissue benign neoplasm that arises from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints.ChondrocalcinosisAn arthritis that is caused by the accumulation of salt crystals in joint.Chondrodysplasia Blomstrand TypeAn osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, is caused by autosomal recessive inheritance of mutation in the PTH1R gene.Chondrodysplasia-Pseudohermaphroditism SyndromeA syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.Chondrodysplasia PunctataA syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.Chondrodysplasia with Joint Dislocations GPAPP TypeAn osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, su Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and MicrophthalmiaA syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose Chondroid ChordomaA chordoma that histologically arises from chordoma, arises from chondroma, and arises from chondrosarcoma.Chondroid LipomaA lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women.ChondromaA cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern.ChondromalaciaA cartilage disease that is characterized by softening and breakdown of cartilage inside a joint.Chondromalacia PatellaeA chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when t ChondrosarcomaA bone sarcoma that is caused by cells derived from transformed cells that produce cartilage.Chordoid GliomaA high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.Chordoid MeningiomaA meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma.ChordomaA notochordal cancer that arises from cellular remnants of the notochord.ChoreaInvoluntary, irregular movements.ChoreaacanthocytosisA neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and is caused by homozygous or compound heterozygous mutation in the VPS13 Choreatic DiseaseA movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.ChorioamnionitisA placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.ChoriocarcinomaA placenta cancer that is caused by trophoblastic cells.Choriocarcinoma of OvaryA malignant ovarian germ cell neoplasm that is caused by trophoblastic cells.Choriocarcinoma of the TestisA choriocarcinoma that is in the testis.Choroid DiseaseAn uveal disease that is in the choroid.Choroid Plexus CancerA cerebral ventricle cancer that is in the plexus in the ventricles of the brain.Choroid Plexus CarcinomaA choroid plexus cancer that is caused by epithelial cells of the choroid plexus.Choroid Spindle Cell MelanomaA malignant choroid melanoma that is in the choroid.Christianson SyndromeA syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-ons Chromium Allergic Contact DermatitisAn allergic contact dermatitis that triggered by chromium atom.ChromoblastomycosisA subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta Chromophobe Renal Cell CarcinomaA renal cell carcinoma that is caused by chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells.Chromosomal Deletion SyndromeA chromosomal disease that is caused by partial deletion of chromosomes.Chromosomal DiseaseA genetic disease that is caused by extra, missing, or re-arranged chromosomes.Chromosomal Duplication SyndromeA chromosomal disease that is caused by extra copies of a chromosomal region.Chromosome 10q23 Deletion SyndromeA chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, is caused by recurrent deletions of chromosome 10q22.3-q23.2.Chromosome 11 Partial Duplication SyndromeA chromosomal duplication syndrome that is caused by one or more extra copies of a region of chromosome 11.Chromosome 13q14 Deletion SyndromeA chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, is caused by deletion of the long arm of chromosome 1 Chromosome 14q11-Q22 Deletion SyndromeA chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, is caused by isolated cases of partial deletion of the long arm of chromosome 14.Chromosome 15q11.2 Deletion SyndromeA chromosomal deletion syndrome that is characterized by intellectual disability, dysmorphic facies, psychiatric illness and autism spectrum disorder, is caused by autosomal dominant inheritance of partial deletion of th Chromosome 15q13.3 Microdeletion SyndromeA chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, is caused by autosomal dominant inheritance of partial deletion of the long arm Chromosome 15q24 Deletion SyndromeA chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, is caused by autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion Chromosome 15q25 Deletion SyndromeA chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, is caused by partial deletion of the long arm of chromosome 15.Chromosome 15q26-Qter Deletion SyndromeA chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia,Chromosome 16p11.2 Deletion Syndrome, 220-KbA chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that is caused by a partial deletion of the short arm of chromosome 16, specific Chromosome 16p11.2 Deletion Syndrome, 593-KbA chromosomal deletion syndrome characterized by language delay and mild intellectual disability that is caused by partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).Chromosome 16p11.2 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.Chromosome 16p12.1 Deletion SyndromeA chromosomal deletion syndrome that is caused by a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and con Chromosome 16p12.2-P11.2 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cogn Chromosome 16p13.3 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 16p13.3 region.Chromosome 16q22 Deletion SyndromeA chromosomal deletion syndrome that is caused by an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features,Chromosome 17p13.1 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long m Chromosome 17p13.3 Duplication SyndromeA chromosomal duplication syndrome that is caused by the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.Chromosome 17q11.2 Deletion SyndromeA chromosomal deletion syndrome that is caused by a contiguous gene deletion on 17q11.2 that includes the NF1 gene.Chromosome 17q12 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (par Chromosome 17q12 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 17q12 region.Chromosome 17q21.31 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 17q21.31 region.Chromosome 17q23.1-Q23.2 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.Chromosome 18p Deletion SyndromeA chromosomal deletion syndrome that is caused by partial or complete deletion of the short arm of chromosome 18.Chromosome 18q Deletion SyndromeA chromosomal deletion syndrome that is caused by a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.Chromosome 19p13.13 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.Chromosome 19q13.11 Deletion SyndromeA chromosomal deletion syndrome that is caused by a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disabil Chromosome 1p36.33 Duplication SyndromeA chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that is caused by heterozygous duplication within the ATAD3 gene cluster, includin Chromosome 1p36 Deletion SyndromeA chromosomal deletion syndrome that is caused by by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia,Chromosome 1q21.1 Deletion SyndromeA chromosomal deletion syndrome that is caused by a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnorma Chromosome 1q21.1 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 1q21.1 region.Chromosome 1q41-Q42 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 1q41-q42 region.Chromosome 22q11.2 Deletion Syndrome, DistalA chromosomal deletion syndrome that is caused by deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.Chromosome 22q11.2 Microduplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 22q11.2 region.Chromosome 22q13 Duplication SyndromeA chromosomal duplication syndrome that is caused by heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene.Chromosome 2p12-P11.2 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 2p12-p11.2 region.Chromosome 2p16.1-P15 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic fe Chromosome 2q31.1 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 2q31.1 region.Chromosome 2q31.2 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 2q31.2 region.Chromosome 2q37 Deletion SyndromeA chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral ab Chromosome 3q13.31 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and ab Chromosome 3q29 Microdeletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 3q29 region.Chromosome 3q29 Microduplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 3q29 region.Chromosome 4q21 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 4q21 region.Chromosome 5p13 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome 5p13 region.Chromosome 5q12 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 5q12 region.Chromosome 5q Deletion SyndromeA chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that is caused by somatic deletion of 1 allele of the RPS14, MIR145,Chromosome 6pter-P24 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 6pter-p24 region.Chromosome 6q11-Q14 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, a Chromosome 6q24-Q25 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 6q24-q25 region.Chromosome 8q21.11 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.Chromosome 9p Deletion SyndromeA chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism,Chromosome Xp11.22 Duplication SyndromeA non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that is caused by duplication of a small region within chromosome Xp11.22 involving both the Chromosome Xp11.23-P11.22 Duplication SyndromeA chromosomal duplication syndrome that is caused by duplication of the chromosome Xp11.23-p11.22 region.Chromosome Xp21 Deletion SyndromeA chromosomal deletion syndrome that is caused by deletion of the chromosome Xp21 region.Chronic AsthmaAn asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.Chronic Atrial and Intestinal DysrhythmiaA syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It is caused by the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus Chronic Atticoantral DiseaseA chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is Chronic CervicitisA cervicitis that is present for weeks or more.Chronic Closed-Angle GlaucomaA primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropr Chronic Eosinophilic LeukemiaA chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.Chronic Eosinophilic PneumoniaAn eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of t Chronic EthmoiditisA ethmoid sinusitis which lasts for 12 weeks or more.Chronic Eustachian SalpingitisA otosalpingitis which is persistent and long-lasting.Chronic Fatigue / MEExtreme fatigue that rest doesn't fix. Tracking your symptoms and connecting with others who understand can help you manage day to day.Chronic Fatigue SyndromeExtreme, persistent fatigue that doesn't improve with rest.Chronic Frontal SinusitisA frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage.Chronic Fungal Otitis ExternaA otomycosis which is persistent and long-lasting or recurrent.Chronic Gonococcal SalpingitisA chronic salpingitis that is caused by gonorrhea.Chronic Gonorrhea of CervixA chronic cervicitis that is caused by gonorrhea.Chronic Granulomatous DiseaseAn immune disorder affecting white blood cells.Chronic HivesRecurring itchy welts on the skin. Tracking your symptoms and connecting with others who understand can help you manage day to day.Chronic Inducible UrticariaA chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours.Chronic Inflammation of Lacrimal PassageA lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and causes pain, increased or decreased tearing, and swelling between the eye and nose.Chronic Inflammatory Demyelinating PolyradiculoneuropathyAn autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects Chronic Interstitial CystitisA chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and causes pain, causes pressure, causes discomfort, causes dysuria, and/or ca Chronic Kidney DiseaseKidney health tracking, lab results, and dialysis/transplant support Chronic LaryngitisA laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease.Chronic LeukemiaA leukemia that develops slowly.Chronic Lymphocytic LeukemiaA type of leukemia affecting lymphocytes.Chronic Lymphocytic Leukemia/Small Lymphocytic LymphomaA chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.Chronic Maxillary SinusitisA maxillary sinusitis which lasts for 12 weeks or more.Chronic Mucocutaneous CandidiasisA candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections in skin, in mucous membrane, or in nail due to T-cell defects, has-agent Candida spec Chronic Myelogenous Leukemia, BCR-ABL1 PositiveA chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene.Chronic Myeloid LeukemiaA type of leukemia that affects myeloid cells.Chronic Myelomonocytic LeukemiaA chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.Chronic Neutrophilic LeukemiaA chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene.Chronic NK-Cell LymphocytosisA hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and causes fever, arthralgia, apthous ulcers, vasculitic sk Chronic Obstructive Pulmonary DiseaseLong-term lung damage that makes it hard to breathe.Chronic PainPain that lasts for months and affects daily life. Tracking your symptoms and connecting with others who understand can help you manage day to day.Chronic PancreatitisLong-term inflammation of the pancreas. Tracking your symptoms and connecting with others who understand can help you manage day to day.Chronic Perichondritis of PinnaA perichondritis of auricle which is persistent and long-lasting.Chronic Progressive External OphthalmoplegiaA mitochondrial myopathy characterized by weakness of extraocular muscles, usually evident from bilateral ptosis and/or ophthalmoplegia, that is caused by mitochondrial DNA deletions.Chronic Purulent Otitis MediaA suppurative otitis media which is persistent and long-lasting.Chronic Recurrent Multifocal OsteomyelitisAn osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.Chronic RhinitisA rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are cha Chronic SinusitisLong-lasting inflammation of the sinuses. Tracking your symptoms and connecting with others who understand can help you manage day to day.Chronic Sphenoidal SinusitisA sphenoid sinusitis which lasts for 12 weeks or more.Chronic Spontaneous UrticariaA chronic urticaria that is characterized by urticaria independent of any exogenous stimulus.Chronic Subinvolution of UterusA uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy.Chronic Tic DisorderA tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.Chronic Traumatic EncephalopathyA tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast Chronic Tubotympanic Suppurative Otitis MediaA suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-puru Chronic UrticariaAn urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week.Chronic Venous InsufficiencyA venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins.Churg-Strauss SyndromeA vasculitits that is systemic vasculitis realized as blood vessel inflammation and causes asthma along with hay fever, rash and gastrointestinal bleeding.Chylomicron Retention DiseaseA lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inh Cicatricial PemphigoidA pemphigoid that is characterized by skin lesions and scaring and in mucous membranes and in skin.CIC-Rearranged SarcomaAn EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation Ciliary Body DiseaseAn iris disease that is in the ciliary body.Ciliary Body Spindle Cell MelanomaA ciliary body cancer that is in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles.CiliopathyA syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.CINCA SyndromeAn autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that is caused by heterozygous mutation in the NLRP3 gene on Circadian Rhythm DisordersDisruptions to the body's internal clock.CirrhosisSevere scarring of the liver from long-term damage.CitrullinemiaAn inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.CK SyndromeA lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial Clark-Baraitser SyndromeAn autosomal dominant intellectual developmental disorder that is caused by heterozygous mutation in the TRIP12 gene on chromosome 2q36.Classic CitrullinemiaA citrullinemia that is caused by homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.Classic Dopamine Transporter Deficiency SyndromeA dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that is caused by homozygous or compound Classic GalactosemiaA galactosemia that is caused by homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.Clear Cell AdenocarcinomaAn adenocarcinoma that arises from epithelial cells which have clear cytoplasm.Clear Cell AdenofibromaAn adenofibroma that is characterized by the presence of cells with clear cytoplasm.Clear Cell AdenomaAn adenoma that is composed of cells with a clear cytoplasm in ovary.Clear Cell CystadenofibromaA cystadenofibroma that is characterized by the presence of cells with clear cytoplasm.Clear Cell Renal Cell CarcinomaA renal cell carcinoma that is caused by cells that appear very pale or clear when examined under microscope.Clear Cell SarcomaA sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply Cleft LipAn orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.Cleft Lip and PalateA birth defect where the lip or palate doesn't form completely.Cleft Lip-Palate-Ectodermal Dysplasia SyndromeA syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that is caused by homozygous mutation in the NECTIN1 gene Cleft PalateAn orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.Cleft Palate, Cardiac Defects, and Intellectual DisabilityA syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that is caused by heterozygous mutation in the MEIS2 gene on chromosome Cleft Palate-Lateral Synechia SyndromeA physical disorder that is characterized by fusion of maxilla and mandible.Cleft Soft PalateA cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate.Cleidocranial DysplasiaAn osteochondrodysplasia that is caused by mutations in the RUNX2 gene which causes undeveloped or absent in clavicle along with delayed closing of fontanels in the in skull.Clitoris CancerA vulva cancer that is in the clitoris.Clivus Chondroid ChordomaA chondroid chordoma and chordoma of the clivus that is in the clivus.Clivus ChordomaA chordoma of skull base that is located in the clivus.Cloacal ExstrophyA bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel.ClonorchiasisA parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-stand Clostridium Difficile ColitisA colitis characterized by an overgrowth of Clostridium difficile bacteria.Clouston SyndromeAn ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that is caused by heterozygous mutation in the GJB6 gene, which encodes co CLOVES SyndromeA syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that is caused by somatic mosaicism for postzygotic activating mutati ClubfootA birth defect where the foot is twisted inward.Cluster HeadacheExtremely painful headaches that occur in clusters over weeks.CNS Neuroblastoma with FOXR2 ActivationA central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.COACH SyndromeA syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that is caused by homozygous or compound heterozygous mutation in Coarctation of the AortaA congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to sign Cobalt Allergic AsthmaAn allergic asthma that triggered by cobalt atom.Cobalt Allergic Contact DermatitisAn allergic contact dermatitis that triggered by cobalt atom.Cocaine AbuseA substance abuse that involves the recurring use of cocaine despite negative consequences.Cocaine DependenceA drug dependence that is a psychological dependency on the regular use of cocaine.CoccidioidomycosisA primary systemic mycosis that causes systemic fungal infection, is caused by Coccidioides immitis, transmitted by airborne spores and causes conjunctivitis, causes arthritis, causes chest pain and causes the formation CoccidiosisA parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.Cockayne SyndromeA syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.Cockayne Syndrome aA Cockayne syndrome that is caused by homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11.Cockayne Syndrome BA Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increa CODAS SyndromeA syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that is caused by homozygous or compound heterozygous mutation in LONP1 on 19p13.3.CoenurosisA parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules,Coenzyme Q10 Deficiency DiseaseA mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.Coffin-Lowry SyndromeA syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and is caused by mutati Coffin-Siris SyndromeAn autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails Coffin-Siris Syndrome 1A Coffin-Siris syndrome that is caused by an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.Coffin-Siris Syndrome 10A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that is caused by heterozygo Coffin-Siris Syndrome 11A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that is caused by heterozygous m Coffin-Siris Syndrome 12A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that is caused Coffin-Siris Syndrome 2A Coffin-Siris syndrome that is caused by an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11.Coffin-Siris Syndrome 3A Coffin-Siris syndrome that is caused by an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.Coffin-Siris Syndrome 4A Coffin-Siris syndrome that is caused by an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.Coffin-Siris Syndrome 5A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that is caused by heterozygo Coffin-Siris Syndrome 6A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that is caused by heterozygous mutation i Coffin-Siris Syndrome 7A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic Coffin-Siris Syndrome 8A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dy Coffin-Siris Syndrome 9An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that is caused by an autosomal dominant Cogan-Reese SyndromeAn eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized by glaucoma.Cogan SyndromeAn eye disease characterized by nonsyphilitic interstitial keratitis in cornea, causes fever, causes fatigue.Cognitive DisorderA disease of mental health that affects cognitive functions including memory processing, perception and problem solving.Cohen SyndromeA syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that is caused by homozygous or compound Cold-Induced Sweating SyndromeA syndrome that is characterized by profuse sweating induced by cold ambient temperature.Cold-Induced Sweating Syndrome 1A cold-induced sweating syndrome that is caused by homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired suckin Cold-Induced Sweating Syndrome 2A cold-induced sweating syndrome that is caused by compound heterozygous mutation in the CLCF1 gene on chromosome 11q13.Cold-Induced Sweating Syndrome 3A cold-induced sweating syndrome that is caused by homozygous mutation in the KLHL7 gene on chromosome 7p15.Cold SoresBlisters around the lips caused by the herpes simplex virus.Cole-Carpenter SyndromeAn osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.ColitisAn inflammatory bowel disease that involves inflammation in colon.Collagen DiseaseA connective tissue disease that characterized by connective tissue disease that is caused by inheritable defects in collagen.Collagenous ColitisA colitis characterized by a distinctive thickening of the subepithelial collagen table.Collecting Duct CarcinomaA renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material.ColobomaAn eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.Colon AdenocarcinomaA colon carcinoma that arises from epithelial cells of glandular origin.Colon AdenomaA colonic benign neoplasm that is caused by epithelial tissue with glandular origin.Colon CancerA colorectal cancer that is in the colon.Colon CarcinomaA colon cancer that is caused by abnormally proliferating cells arises from epithelial cells.Colon Carcinoma in SituAn intestine carcinoma in situ that is in the colon.Colonic Benign NeoplasmAn intestinal benign neoplasm that is in the colon.Colonic DiseaseA intestinal disease located in the colon.Colon Kaposi SarcomaA sarcoma of colon that is in the colon.Colon LeiomyosarcomaA leiomyosarcoma and sarcoma of colon that is in the colon.Colon SarcomaA colon cancer that arises from transformed cells of mesenchymal origin and is in the colon.Colon Squamous Cell CarcinomaA squamous cell carcinoma that is in the colon.Colorado Tick FeverA viral infectious disease that causes infection, is caused by Colorado tick fever virus (Coltivirus dermacentoris), which is transmitted by rocky mountain wood tick, Dermacentor andersoni. The infection causes fever for Color AgnosiaAn agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.Color BlindnessDifficulty distinguishing certain colors.Colorectal AdenocarcinomaA colorectal carcinoma that arises from epithelial cells of glandular origin.Colorectal AdenomaAn intestinal benign neoplasm that is caused by epithelial tissue of glandular origin and is in colon and in rectum.Colorectal CancerCancer of the colon or rectum. Tracking your symptoms and connecting with others who understand can help you manage day to day.Colorectal CarcinomaA colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa.Columnar Cell Papillary Thyroid CarcinomaA papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells.Combat DisorderAn acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress.Combined Cellular and Humoral Immune Defects with GranulomasA combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that is caused by homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosom Combined D-2- and L-2-Hydroxyglutaric AciduriaA 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that is caused b Combined Deficiency of Vitamin K-Dependent Clotting Factors 1A hereditary combined deficiency of vitamin K-dependent clotting factors that is caused by homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.Combined ImmunodeficiencyA primary immunodeficiency disease that involves multiple components of the immune system.Combined Immunodeficiency and Megaloblastic Anemia with or Without HyperhomocysteinemiaA vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing Combined Malonic and Methylmalonic AcidemiaAn organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults Combined or Isolated Pituitary Growth Hormone Deficiency 7A combined pituitary hormone deficiency that is caused by compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.Combined or Isolated Pituitary Hormone Deficiency 1A combined pituitary hormone deficiency that is caused by homozygous, compound heterozygous, or heterozygous mutation in the POU1F1 gene on chromosome 3p11.Combined Oxidative Phosphorylation DeficiencyA mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.Combined Oxidative Phosphorylation Deficiency 1A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.Combined Oxidative Phosphorylation Deficiency 10A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that is caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13.Combined Oxidative Phosphorylation Deficiency 11A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that is caused by homozygo Combined Oxidative Phosphorylation Deficiency 12A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that is caused by homozygous or compound heterozygous mutation Combined Oxidative Phosphorylation Deficiency 13A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that is caused by homozygous or compound heterozygous mutation in the PNPT1 gene Combined Oxidative Phosphorylation Deficiency 14A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that is caused by homozygous or compound heterozygous mutation in th Combined Oxidative Phosphorylation Deficiency 15A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.Combined Oxidative Phosphorylation Deficiency 16A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.Combined Oxidative Phosphorylation Deficiency 17A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that is caused by homozygous or compound heterozygous mutation in the ELAC2 gene on Combined Oxidative Phosphorylation Deficiency 18A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that is caused by homozygous or compound heterozygous muta Combined Oxidative Phosphorylation Deficiency 19A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1.Combined Oxidative Phosphorylation Deficiency 2A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.Combined Oxidative Phosphorylation Deficiency 20A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33.Combined Oxidative Phosphorylation Deficiency 21A combined oxidative phosphorylation deficiency characterized either by onset within the first months of life of severe hypotonia, failure to thrive, epilepsy, and early death or by onset after 6 months of life with a mi Combined Oxidative Phosphorylation Deficiency 22A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.Combined Oxidative Phosphorylation Deficiency 23A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that is caused by Combined Oxidative Phosphorylation Deficiency 24A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that is caused by homozygous or compound heterozygous mutation i Combined Oxidative Phosphorylation Deficiency 25A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.Combined Oxidative Phosphorylation Deficiency 26A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.Combined Oxidative Phosphorylation Deficiency 27A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34.Combined Oxidative Phosphorylation Deficiency 28A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.Combined Oxidative Phosphorylation Deficiency 29A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.Combined Oxidative Phosphorylation Deficiency 3A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.Combined Oxidative Phosphorylation Deficiency 30A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.Combined Oxidative Phosphorylation Deficiency 31A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that is caused by homozygous or compound heterozygous mutation in the MIP Combined Oxidative Phosphorylation Deficiency 32A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that is caused by homozygous or compound heterozygous mutation in the MRPS Combined Oxidative Phosphorylation Deficiency 33A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.Combined Oxidative Phosphorylation Deficiency 34A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that is caused by homozygous or compound heterozygo Combined Oxidative Phosphorylation Deficiency 35A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that is caused by homozygous or compound heterozygous mutat Combined Oxidative Phosphorylation Deficiency 36A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3.Combined Oxidative Phosphorylation Deficiency 37A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that is caused by homozygous or compound heterozygous mutation in MICOS13 on chromos Combined Oxidative Phosphorylation Deficiency 38A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.Combined Oxidative Phosphorylation Deficiency 39A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.Combined Oxidative Phosphorylation Deficiency 4A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.Combined Oxidative Phosphorylation Deficiency 40A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.Combined Oxidative Phosphorylation Deficiency 41A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.Combined Oxidative Phosphorylation Deficiency 42A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31.Combined Oxidative Phosphorylation Deficiency 43A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.Combined Oxidative Phosphorylation Deficiency 44A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.Combined Oxidative Phosphorylation Deficiency 45A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.Combined Oxidative Phosphorylation Deficiency 46A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.Combined Oxidative Phosphorylation Deficiency 47A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.Combined Oxidative Phosphorylation Deficiency 48A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.Combined Oxidative Phosphorylation Deficiency 49A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.Combined Oxidative Phosphorylation Deficiency 5A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that is caused by homozygous or compound heterozygous mutation in the MRPS22 gene on chromo Combined Oxidative Phosphorylation Deficiency 50A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.Combined Oxidative Phosphorylation Deficiency 51A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.Combined Oxidative Phosphorylation Deficiency 52A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that is caused by homozygous mu Combined Oxidative Phosphorylation Deficiency 53A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that is caused by homozygous mutation in th Combined Oxidative Phosphorylation Deficiency 54A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.Combined Oxidative Phosphorylation Deficiency 55A combined oxidative phosphorylation deficiency that is caused by homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.Combined Oxidative Phosphorylation Deficiency 56A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that is caused by compound heterozygous mutation in the TAMM41 gene on chromosome 3 Combined Oxidative Phosphorylation Deficiency 57A combined oxidative phosphorylation deficiency that is caused by compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.Combined Oxidative Phosphorylation Deficiency 6A combined oxidative phosphorylation deficiency that is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.Combined Oxidative Phosphorylation Deficiency 7A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.Combined Oxidative Phosphorylation Deficiency 8A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that is caused by homozygous or compound hetero Combined Oxidative Phosphorylation Deficiency 9A combined oxidative phosphorylation deficiency that is caused by homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.Combined Pituitary Hormone DeficiencyA hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone.Combined Pituitary Hormone Deficiency 2A combined pituitary hormone deficiency that is caused by homozygous or compound heterozygous mutation in the PROP1 gene on chromosome 5q35.Combined Pituitary Hormone Deficiency 3A combined pituitary hormone deficiency that is caused by homozygous mutation in the LHX3 gene on chromosome 9q34.Combined Pituitary Hormone Deficiency 4A combined pituitary hormone deficiency that is caused by heterozygous mutation in the LHX4 gene on chromosome 1q25.Combined Pituitary Hormone Deficiency 6A combined pituitary hormone deficiency that is caused by heterozygous mutation in the OTX2 gene on chromosome 14q21.Combined Saposin DeficiencyA sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that is caused by homozygous or compound heterozygous mut Combined T Cell and B Cell ImmunodeficiencyA primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.Comedo CarcinomaA ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells.Commensal Bacterial Infectious DiseaseA bacterial infectious disease that causes infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are Common Bile Duct DiseaseA bile duct disease that is in the common bile duct.Common ColdA mild viral infection of the nose and throat.Common Variable ImmunodeficiencyAn immune disorder causing low antibody levels.Common Variable Immunodeficiency 1A common variable immunodeficiency that is caused by homozygous mutation in the ICOS gene on chromosome 2q33.Common Variable Immunodeficiency 10A common variable immunodeficiency that is caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24.Common Variable Immunodeficiency 11A common variable immunodeficiency that is caused by homozygous mutation in the IL21 gene on chromosome 4q27.Common Variable Immunodeficiency 12A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that is caused by heterozygous mutation in the NFKB1 gene on chromosome 4q24.Common Variable Immunodeficiency 13A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that is c Common Variable Immunodeficiency 14A common variable immunodeficiency that is caused by heterozygous mutation in the IRF2BP2 gene on chromosome 1q42.Common Variable Immunodeficiency 2A common variable immunodeficiency that is caused by heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome Common Variable Immunodeficiency 3A common variable immunodeficiency that is caused by homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2.Common Variable Immunodeficiency 4A common variable immunodeficiency that is caused by homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13.Common Variable Immunodeficiency 5A common variable immunodeficiency that is caused by homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.Common Variable Immunodeficiency 6A common variable immunodeficiency that is caused by homozygous mutation in the CD81 gene on chromosome 11p.Common Variable Immunodeficiency 7A common variable immunodeficiency that is caused by compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32.Common Variable Immunodeficiency 8A common variable immunodeficiency that is caused by homozygous mutation in the LRBA gene on chromosome 4q31.Common WartA viral infectious disease that causes infection in skin, is caused by human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow any Communicating HydrocephalusA hydrocephalus characterized by cerebrospinal fluid flow without obstruction in the ventricular system.Communication DisorderA specific developmental disorder that involves specific developmental disorders of speech and language.Compartment SyndromePressure buildup in a muscle that blocks blood flow.Compensatory EmphysemaA pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung.Complement Component 2 DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, is caused by autosomal recessive inheritance of mutation in the C2 gene.Complement Component 3 DeficiencyA complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and is caused by autosomal recessive inheritance of mutation in the Complement Component 4a DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency.Complement Component 4b DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency.Complement Component 5 DeficiencyA complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and is caused by mutation in the complement component 5 (C5) gene on chro Complement Component 6 DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, is caused by mutation in the C6 gene.Complement Component 7 DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, is caused by mutation in the C7 gene.Complement Component 9 DeficiencyA complement deficiency that is characterized by recurrent bacterial infections, is caused by mutation in the C9 gene.Complement DeficiencyA primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce Complement Factor I DeficiencyA complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.Complete Androgen Insensitivity SyndromeAn androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus.Complete CryptophthalmiaAn isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestig Complete Generalized LipodystrophyA lipodystrophy that is characterized by complete loss of adipose tissue.Complex Cortical Dysplasia with Other Brain MalformationsA brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.Composite LymphomaA lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time.Compton-North Congenital MyopathyA congenital myopathy that is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, followi ConcussionA mild brain injury from a bump or blow to the head. Tracking your symptoms and connecting with others who understand can help you manage day to day.Conduct DisorderA pattern of behavior that violates others' rights.Cone DystrophyA retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.Cone Dystrophy with Supernormal Rod ResponsesA cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and Cone-Rod DystrophyA retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.Cone-Rod Dystrophy 1A cone-rod dystrophy that is caused by variation in the chromosome region 18q21.1-q21.3.Cone-Rod Dystrophy 10A cone-rod dystrophy that is caused by compound heterozygous mutation in the SEMA4A gene on chromosome 1q22.Cone-Rod Dystrophy 11A cone-rod dystrophy that is caused by heterozygous mutation in the RAX2 gene on chromosome 19p13.Cone-Rod Dystrophy 12A cone-rod dystrophy that is caused by homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.Cone-Rod Dystrophy 13A cone-rod dystrophy that is caused by mutation in the RPGRIP1 gene on chromosome 14q11.2.Cone-Rod Dystrophy 14A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that is caused by mutation in the GUCA1A Cone-Rod Dystrophy 15A cone-rod dystrophy that is caused by homozygous mutation in the CDHR1 gene on chromosome 10q23.Cone-Rod Dystrophy 16A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.Cone-Rod Dystrophy 17A cone-rod dystrophy that is caused by variation in the chromosome region 10q26.Cone-Rod Dystrophy 18A cone-rod dystrophy that is caused by homozygous mutation in the RAB28 gene on chromosome 4p15.Cone-Rod Dystrophy 19A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.Cone-Rod Dystrophy 2A cone-rod dystrophy that is caused by heterozygous mutation in the CRX gene on chromosome 19q13.Cone-Rod Dystrophy 20A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.Cone-Rod Dystrophy 21A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13.Cone-Rod Dystrophy 22A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that is caused by homozygous mutatio Cone-Rod Dystrophy 24A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that is caused by heterozygous mutation in the UNC119 gene on chromosome 17q11.Cone-Rod Dystrophy 3A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.Cone-Rod Dystrophy 5A cone-rod dystrophy that is caused by mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.Cone-Rod Dystrophy 6A cone-rod dystrophy that is caused by heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.Cone-Rod Dystrophy 7A cone-rod dystrophy that is caused by variation in the chromosome region 6q13.Cone-Rod Dystrophy 8A cone-rod dystrophy that is caused by variation in the chromosome region 1q12-q24.Cone-Rod Dystrophy 9A cone-rod dystrophy that is caused by homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11.Congenital Adrenal HyperplasiaA group of genetic disorders affecting the adrenal glands.Congenital Adrenal InsufficiencyAn adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, is caused by the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hyd Congenital AfibrinogenemiaA blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).Congenital Amegakaryocytic ThrombocytopeniaA thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.Congenital Amegakaryocytic Thrombocytopenia 1A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that is caused by autosomal homozygous or compound heterozygous mutati Congenital Amegakaryocytic Thrombocytopenia 2A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that is caused by homozygous mutation in the THPO gene on chromosome 3q27.Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal EarA syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that is caused by heterozygous mutati Congenital Anomalies of the Kidney and Urinary TractA urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.Congenital Bilateral Absence of Vas DeferensA male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.Congenital Bile Acid Synthesis DefectA steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.Congenital Bile Acid Synthesis Defect 1A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholester Congenital Bile Acid Synthesis Defect 2A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat an Congenital Bile Acid Synthesis Defect 3A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that is caused by homozygous mutation in the CYP7B1 gene on Congenital Bile Acid Synthesis Defect 4A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that is Congenital Bile Acid Synthesis Defect 5A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that is caused by homozygous mutation in the ABCD3 ge Congenital Bile Acid Synthesis Defect 6A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that is caused by homozygous mutation in the ACOX2 Congenital Central Hypoventilation SyndromeAn autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervou Congenital ChylothoraxA pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few wee Congenital Contractural ArachnodactylyA distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that is caused by heterozygous mutation in the FBN2 gene on chromosome 5q23.3.Congenital Diaphragmatic HerniaA diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart Congenital DiarrheaA diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.Congenital Diarrhea 5 with Tufting EnteropathyA congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jej Congenital Diarrhea 6A congenital diarrhea characterized by mild, early-onset chronic diarrhea that is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12.Congenital Diarrhea 7 with Exudative EnteropathyA congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that is caused by homozygous or compound heterozygous mutation in the DGAT1 gene on chr Congenital Disorder of DeglycosylationA carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins.Congenital Disorder of Deglycosylation 1A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that is caused by homozygous or compound heterozy Congenital Disorder of Deglycosylation 2A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypotha Congenital Disorder of GlycosylationA carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.Congenital Disorder of Glycosylation IaA congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and Congenital Disorder of Glycosylation IaaA congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and is caused by homozygous mutation in the NUS1 gene on chromoso Congenital Disorder of Glycosylation IbA congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, l Congenital Disorder of Glycosylation IcA congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and is caused by homozygous or comp Congenital Disorder of Glycosylation IccA congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent Congenital Disorder of Glycosylation IdA congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and is caused by homozygous or compound heterozygous mutation in the ALG3 Congenital Disorder of Glycosylation IeA congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and is caused by homozygous or compound heterozygous mutation in the DPM1 gene Congenital Disorder of Glycosylation IfA congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and is caused by homozygous or compound heterozygous mutation in the MP Congenital Disorder of Glycosylation IgA congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay,Congenital Disorder of Glycosylation IhA congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops Congenital Disorder of Glycosylation IiA congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and is caused by compound heterozygous mutation in the ALG Congenital Disorder of Glycosylation IjA congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and is caused by homozygous or compound heterozygous mutat Congenital Disorder of Glycosylation IkA congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and is caused by homozygous or compound Congenital Disorder of Glycosylation IlA congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and is caused by homozygous mutation in the Congenital Disorder of Glycosylation ImA congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and is caused by homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de Congenital Disorder of Glycosylation inA congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure Congenital Disorder of Glycosylation IpA congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental de Congenital Disorder of Glycosylation IqA congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris an Congenital Disorder of Glycosylation IrA congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and is caused by compound heterozygous mutation in the DDOST gene on Congenital Disorder of Glycosylation ItA congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, he Congenital Disorder of Glycosylation IuA congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofaci Congenital Disorder of Glycosylation IwA congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and is caused by homozygous mutation in the STT3A gene on chromoso Congenital Disorder of Glycosylation IxA congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy a Congenital Disorder of Glycosylation IyA congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia,Congenital Disorder of Glycosylation Type IA congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.Congenital Disorder of Glycosylation Type IIA congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.Congenital Disorder of Glycosylation Type IIaA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.Congenital Disorder of Glycosylation Type IIbA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.Congenital Disorder of Glycosylation Type IIbbA congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings Congenital Disorder of Glycosylation Type IIcA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.Congenital Disorder of Glycosylation Type IIdA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.Congenital Disorder of Glycosylation Type IIeA congenital disorder of glycosylation type II that is caused by a mutation of the COG7 gene on chromosome 16p12.2.Congenital Disorder of Glycosylation Type IIfA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.Congenital Disorder of Glycosylation Type IIgA congenital disorder of glycosylation type II that is caused by a mutation of the COG1 gene on chromosome 17q25.1.Congenital Disorder of Glycosylation Type IIhA congenital disorder of glycosylation type II that is caused by a mutation of the COG8 gene on chromosome 16q22.1.Congenital Disorder of Glycosylation Type IIiA congenital disorder of glycosylation type II that is caused by a mutation of the COG5 gene on chromosome 7q22.3.Congenital Disorder of Glycosylation Type IIjA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.Congenital Disorder of Glycosylation Type IIkA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.Congenital Disorder of Glycosylation Type IIlA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.Congenital Disorder of Glycosylation Type IImA congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that is caused by X-linked dominant Congenital Disorder of Glycosylation Type IInA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.Congenital Disorder of Glycosylation Type IIoA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.Congenital Disorder of Glycosylation Type IIpA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.Congenital Disorder of Glycosylation Type IIqA congenital disorder of glycosylation type II that is caused by an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.Congenital Disorder of Glycosylation Type IIrA congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that is caused by hemizygous mutation in the Congenital Disorder of Glycosylation Type IItA congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and t Congenital Disorder of Glycosylation Type IIvA congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that is caused by homozygous or compound heterozygous mutation in the EDEM3 gene on ch Congenital Disorder of Glycosylation Type IIwA congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that is caused by heterozy Congenital Disorder of Glycosylation Type IIyA congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that is caused by compound heterozygous mutations in t Congenital Disorder of Glycosylation Type IIzA congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that is c Congenital Dyserythropoietic AnemiaA congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.Congenital Dyserythropoietic Anemia Type IA congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis.Congenital Dyserythropoietic Anemia Type IaA congenital dyserythropoietic anemia type I that is caused by homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2.Congenital Dyserythropoietic Anemia Type IbA congenital dyserythropoietic anemia type I that is caused by homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.Congenital Dyserythropoietic Anemia Type IIA congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that is caus Congenital Dyserythropoietic Anemia Type IIIaA congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone m Congenital Dyserythropoietic Anemia Type IIIbA congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and t Congenital Dyserythropoietic Anemia Type IVaA congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that is caused by heterozygous mutation in the KLF1 gene on chromos Congenital Dyserythropoietic Anemia Type IVbA congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that is caused by homozygous or compound heterozygous mutati Congenital Facial Palsy with Ptosis and Velopharyngeal DysfunctionA syndrome characterized by variable congenital nonprogressive bilateral facial palsy, velopharyngeal dysfunction, and ptosis, without limitation of ocular abduction, limb abnormalities, or impaired cognition that is cau Congenital Fibrosis of the Extraocular MusclesAn ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.Congenital Fibrosis of the Extraocular Muscles 1A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline an Congenital Fibrosis of the Extraocular Muscles 2A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that is caused by homozygous mutation Congenital Fibrosis of the Extraocular Muscles 3AA congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharopt Congenital Fibrosis of the Extraocular Muscles 3CA congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that is caused by a reciprocal translocation t(2;13)(q37.3;q12.11).Congenital Fibrosis of the Extraocular Muscles 5A congenital fibrosis of the extraocular muscles that is caused by homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.Congenital Generalized LipodystrophyA lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.Congenital Generalized Lipodystrophy Type 1A congenital generalized lipodystrophy that is caused by an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.Congenital Generalized Lipodystrophy Type 2A congenital generalized lipodystrophy that is caused by an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.Congenital Generalized Lipodystrophy Type 3A congenital generalized lipodystrophy that is caused by an autosomal recessive mutation of CAV1 on chromosome 7q31.2.Congenital Generalized Lipodystrophy Type 4A congenital generalized lipodystrophy that is caused by an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.Congenital Glutamine DeficiencyAn amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that is caused by homozygous mutation i Congenital Heart BlockAn atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.Congenital Heart DefectsHeart abnormalities present at birth.Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental DisorderA syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that is caused by heterozygous mutation in the CDK13 gene on chromosome 7p14.1.Congenital Heart Defects, Hamartomas of Tongue, and PolysyndactylyA syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that is caused by homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.Congenital Heart DiseaseHeart defects present from birth that affect how the heart works.Congenital Hereditary Endothelial Dystrophy of CorneaA corneal endothelial dystrophy that is caused by homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and Congenital HydrocephalusA hydrocephalus characterized by fetal or congenital onset.Congenital Hydrocephalus 1A congenital hydrocephalus that is caused by homozygous mutation in the CCDC88C gene on chromosome 14q32.Congenital Hydrocephalus 2A congenital hydrocephalus that is caused by homozygous mutation in the MPDZ gene on chromosome 9p23.Congenital Hydrocephalus 3A congenital hydrocephalus that is caused by homozygous mutation in the WDR81 gene on chromosome 17p13.Congenital Hydrocephalus 4A congenital hydrocephalus that is caused by heterozygous mutation in the TRIM71 gene on chromosome 3p22.Congenital Hypomyelinating NeuropathyA neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin forma Congenital Hypomyelinating Neuropathy 1A congenital hypomyelinating neuropathy that is caused by homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21.Congenital Hypomyelinating Neuropathy 2A congenital hypomyelinating neuropathy that is caused by heterozygous mutation in the MPZ gene on chromosome 1q23.Congenital Hypomyelinating Neuropathy 3A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and ce Congenital Hypoplastic AnemiaAn aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life.Congenital HypothyroidismLow thyroid hormone present at birth.Congenital Hypotrichosis with Juvenile Macular DystrophyA hypotrichosis that is caused by a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.Congenital Insensitivity to Pain with AnhidrosisA hereditary sensory and autonomic neuropathy characterized by insensitivity to pain and anhidrosis that is caused by homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23.Congenital Intrinsic Factor DeficiencyA vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.Congenital KyphosisA kyphosis that causes abnormal formation in body of vertebra.Congenital Lactase DeficiencyA carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that is caused by homozygous or compound heterozygous mutation in LCT on chromosome Congenital Leptin DeficiencyA syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that is caused by homozygous or compound heterozygous mutation in LEP on ch Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay SyndromeA syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that is caused by heterozygous mu Congenital Malabsorptive Diarrhea 4A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that is caused by mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.Congenital MegabladderA bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that is caused by heterozygous mutation in the MYOCD gene on chromosome 17p12.Congenital Merosin-Deficient Muscular Dystrophy 1AA congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abno Congenital Mesoblastic NephromaA kidney cancer that is characterized by the presence of fibroblastic cells.Congenital Mirror Movement DisorderA movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs.Congenital Muscular DystrophyA muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones Congenital Muscular Dystrophy 1BA congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that is caused by variation in the chromosome region 1q42.Congenital Muscular Dystrophy Due to Integrin Alpha-7 DeficiencyA congenital muscular dystrophy characterized by autosomal recessive inheritance that is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.Congenital Muscular Dystrophy Due to LMNA MutationA congenital muscular dystrophy characterized by autosomal dominant inheritance that is caused by heterozygous mutation in the LMNA gene on chromosome 1q22.Congenital Muscular Dystrophy-Dystroglycanopathy Type aA congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that is caused by autosomal recessive inheritance a defect in alpha-dystroglycan Congenital Muscular Dystrophy with Cataracts and Intellectual DisabilityA congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the INPP5K g Congenital Muscular Dystrophy with Rapid ProgressionA congenital muscular dystrophy characterized by hypotonia and poor feeding apparent in infancy, delayed motor development with poor head control and inability to sit or walk, progressive weakness and lethargy, and respi Congenital Myasthenic SyndromeA neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may Congenital Myasthenic Syndrome 10A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life tha Congenital Myasthenic Syndrome 11A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplat Congenital Myasthenic Syndrome 12A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that is Congenital Myasthenic Syndrome 13A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholineste Congenital Myasthenic Syndrome 14A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that is caused by homozygous mutation in th Congenital Myasthenic Syndrome 15A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that is caused by compound heterozygous mutation in the ALG14 gene on chromosome 1p21.Congenital Myasthenic Syndrome 16A congenital myasthenic syndrome that is caused by heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23.Congenital Myasthenic Syndrome 17A congenital myasthenic syndrome that is caused by compound heterozygous mutation in the LRP4 gene on chromosome 11p11.Congenital Myasthenic Syndrome 19A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency tha Congenital Myasthenic Syndrome 1AA congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that is caused by mutation in Congenital Myasthenic Syndrome 1BA congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that is caused by mutation in the CHRNA1 gene on chromosome 2q.Congenital Myasthenic Syndrome 20A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that is caused by homozygous or compound heterozygous mutation in the SLC5A7 gene on ch Congenital Myasthenic Syndrome 21A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that is caused by homozygous or compound heterozygous mutation in the SLC18A3 gene on chrom Congenital Myasthenic Syndrome 22A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that is caused by homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p2 Congenital Myasthenic Syndrome 2AA congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylch Congenital Myasthenic Syndrome 2CA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and cur Congenital Myasthenic Syndrome 3AA congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that is Congenital Myasthenic Syndrome 3BA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depol Congenital Myasthenic Syndrome 3CA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weak Congenital Myasthenic Syndrome 4AA congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that is cau Congenital Myasthenic Syndrome 4BA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel tha Congenital Myasthenic Syndrome 4CA congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and cur Congenital Myasthenic Syndrome 5A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that is caused Congenital Myasthenic Syndrome 6A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes Congenital Myasthenic Syndrome 7A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that is caused by heterozygous mutation in the SYT2 gene on chromosome 1q3 Congenital Myasthenic Syndrome 8A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that is caused by homozygous or compound heterozygous m Congenital Myasthenic Syndrome 9A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic Congenital MyopathyA myopathy that is characterized by hypotonia and weakness, usually present from birth.Congenital Myopathy 10AA congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that is caused by homozygous or compound heterozygous mutation in MEGF10 on chr Congenital Myopathy 10BA congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that is caused by homozygous or compou Congenital Myopathy 13A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia Congenital Myopathy 14A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that is caused by homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have Congenital Myopathy 15A congenital myopathy that is characterized by symptom onset soon after birth and that is caused by heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory Congenital Myopathy 16A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that is caused by heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady g Congenital Myopathy 17A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that is caused by homozygous mutation in the MYOD1 gene Congenital Myopathy 18A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that is caused by compound heterozygous or heterozygous mutation in the CACNA Congenital Myopathy 19A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that is caused by homozyg Congenital Myopathy 1AA congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and t Congenital Myopathy 1BA congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that is cau Congenital Myopathy 20A congenital myopathy that is caused by homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal Congenital Myopathy 21A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that is caused by homozygous mutation in the DNAJB4 gene on chromosome 1p31.Congenital Myopathy 22AA congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that is caused by homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mut Congenital Myopathy 22BA congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that is caused by homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23.Congenital Myopathy 23A congenital myopathy that is caused by heterozygous mutation in the TPM2 gene on chromosome 9p13.Congenital Myopathy 25A congenital myopathy characterized by prominent facial, ocular, and bulbar features that is caused by homozygous mutation in the JPH1 gene on chromosome 8q21.Congenital Myopathy 26A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that is caused by heterozygous mutation in the TUBA4A gene on chromosome 2q35.Congenital Myopathy 27A congenital myopathy characterized by exercise intolerance and early fatigue that is caused by homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.Congenital Myopathy 28A congenital myopathy characterized by exercise intolerance and early fatigue that is caused by homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12.Congenital Myopathy 29A congenital myopathy characterized by hypotonia, distal joint contractures, and early respiratory and feeding difficulties that is caused by homozygous or compound heterozygous mutation in the dystonin gene on chromosom Congenital Myopathy 2BA congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that is caused by homozygous or Congenital Myopathy 2CA congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that is caused by heterozygous mutation in the ACTA1 gene Congenital Myopathy 4AA congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.Congenital Myopathy 4BA congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that is caused by homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chrom Congenital Myopathy 5A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that is caused by homozygous or compound Congenital Myopathy 6A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that is caused by heterozygous, compound heterozygous, or homoz Congenital Myopathy 8A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that is Congenital Myopathy 9AA congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that is caused by homozygous mutation in the FXR1 gene on chromosome 3q28.Congenital Myopathy 9BA congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that is caused by homozygous mutation in the FXR1 gene on chromosome 3q28. Bialleli Congenital Nongoitrous Hypothyroidism 1A congenital hypothyroidism that is caused by mutation in the TSHR gene on chromosome 14q31.Congenital Nongoitrous Hypothyroidism 2A congenital hypothyroidism that is caused by heterozygous mutation in the PAX8 gene on chromosome 2q13.Congenital Nongoitrous Hypothyroidism 3A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that is caused by heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR Congenital Nongoitrous Hypothyroidism 4A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that is caused by homozygous mutation in the TSHB gene on chromosome 1p13.Congenital Nongoitrous Hypothyroidism 5A congenital hypothyroidism that is caused by heterozygous mutation in the NKX2-5 gene on chromosome 5q35.Congenital Nongoitrous Hypothyroidism 6A congenital hypothyroidism that is caused by heterozygous mutation in the THRA gene on chromosome 17q21.1.Congenital Nongoitrous Hypothyroidism 7A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that is caused by homozygous or compou Congenital Nongoitrous Hypothyroidism 8A congenital hypothyroidism characterized by relatively mild central hypothyroidism that is caused by heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.Congenital Nongoitrous Hypothyroidism 9A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that is caused by hemizygous mutation in the IRS4 gene on chromo Congenital Nonprogressive Movement Disorder with Ataxia and Eye Movement AbnormalitiesA syndrome characterized by infantile hypotonia, delayed walking with an ataxic or unsteady gait, speech articulation difficulties, and ptosis, strabismus, or gaze palsies that is caused by heterozygous mutation in the E Congenital Nonspherocytic Hemolytic Anemia 1A congenital nonspherocytic hemolytic anemia that is caused by mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.Congenital Nonspherocytic Hemolytic Anemia 10A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.Congenital Nonspherocytic Hemolytic Anemia 2A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22.Congenital Nonspherocytic Hemolytic Anemia 3A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34.Congenital Nonspherocytic Hemolytic Anemia 4A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.Congenital Nonspherocytic Hemolytic Anemia 5A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.Congenital Nonspherocytic Hemolytic Anemia 6A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to m Congenital Nonspherocytic Hemolytic Anemia 7An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that is caused by homozy Congenital Nonspherocytic Hemolytic Anemia 8A congenital nonspherocytic hemolytic anemia that is caused by homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.Congenital Nonspherocytic Hemolytic Anemia 9A congenital nonspherocytic hemolytic anemia that is caused by hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.Congenital NystagmusA pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.Congenital Nystagmus 1A congenital nystagmus that is caused by mutation in the FRMD7 gene (FERM domain-containing-7) on chromosome Xq26.Congenital Nystagmus 2A congenital nystagmus that is caused by heterozygous mutation in a region of chromosome 6p12.Congenital Nystagmus 3A congenital nystagmus that is caused by heterozygous mutation in a region of chromosome 7p11.2.Congenital Nystagmus 5A congenital nystagmus that is caused by hemizygous or heterozygous mutation in a region of chromosome Xp11.4.Congenital Nystagmus 6A congenital nystagmus that is caused by hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2.Congenital Nystagmus 7A congenital nystagmus that is caused by heterozygous mutation in a region of chromosome 1q31.3-q32.1.Congenital PtosisA ptosis characterized by superior eyelid drop present at birth.Congenital Secretory Chloride Diarrhea 1A secretory diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis that is caused by homozygous mutation in Congenital Secretory Sodium Diarrhea 3A secretory diarrhea that is caused by homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.Congenital Secretory Sodium Diarrhea 8A secretory diarrhea that is caused by homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.Congenital Stationary Night BlindnessA hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-wave Congenital Stationary Night Blindness 1AA congenital stationary night blindness that is caused by mutation in the NYX gene on chromosome Xp11.4.Congenital Stationary Night Blindness 1BA congenital stationary night blindness characterized by autosomal recessive inheritance that is caused by mutation in the GRM6 gene on chromosome 5q35.Congenital Stationary Night Blindness 1CA congenital stationary night blindness characterized by autosomal recessive that is caused by homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.Congenital Stationary Night Blindness 1DA congenital stationary night blindness characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves) that is caused by homozygous or compound heterozygous mutation in the SLC24A1 gene on chr Congenital Stationary Night Blindness 1EA congenital stationary night blindness characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.Congenital Stationary Night Blindness 1FA congenital stationary night blindness characterized by autosomal recessive inheritance that is caused by compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.Congenital Stationary Night Blindness 1GA congenital stationary night blindness characterized by autosomal recessive inheritance that is caused by homozygous mutation in the GNAT1 gene on chromosome 3p21.Congenital Stationary Night Blindness 1HA congenital stationary night blindness characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.Congenital Stationary Night Blindness 2AA congenital stationary night blindness that is caused by mutation in the CACNA1F gene on chromosome Xp11.23.Congenital Stationary Night Blindness Autosomal Dominant 1A congenital stationary night blindness characterized by autosomal dominant inheritance that is caused by mutations in the RHO gene on chromosome 3q22.1.Congenital Stromal Corneal DystrophyA stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.Congenital Structural MyopathyA myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.Congenital Sucrase-Isomaltase DeficiencyA carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that is caused by homozygous or compound heterozygous mutation in SI on chromosome 3q26.1.Congenital SymblepharonAn isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia.Congenital Symmetric Circumferential Skin Creases 1A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that Congenital SyphilisA syphilis that causes a multisystem infection in the fetus via the placenta.Congenital ToxoplasmosisA toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.Congenital Variant of Rett SyndromeA pervasive developmental disorder characterized by microcephaly, developmental delay, severe cognitive disabilities, early-onset dyskinesia and hyperkinetic movements, stereotypies, epilepsy, and cerebral malformation t Congenital Vertical TalusA connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction defo Congestive Heart FailureThe heart can't pump blood as well as it should.ConidiobolomycosisAn subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcu Conjunctival DiseaseAn eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.Conjunctival FolliculosisAn acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae.Conjunctival Intraepithelial NeoplasmA pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium.Conjunctival NevusA sensory organ benign neoplasm that is located in the eye conjunctiva.Conjunctival PterygiumA pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and causes fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Co Conjunctival Squamous Cell CarcinomaA conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basemen ConjunctivitisInflammation of the eye's outer membrane, also called pink eye.Connective Tissue Benign NeoplasmA musculoskeletal system benign neoplasm that is in connective tissue.Connective Tissue CancerA musculoskeletal system cancer that is in connective tissue.Conn'S SyndromeAn adrenal adenoma characterized by the over production of aldosterone.ConstipationInfrequent or difficult bowel movements.Contact DermatitisA rash caused by touching an irritant or allergen.Contagious Pustular DermatitisA viral infectious disease that causes infection in skin, is caused by Orf virus (Parapoxvirus orf), which is transmitted by contact with infected or recently vaccinated animals, or transmitted by fomites carrying the vi Contractures, Pterygia, and Spondylocarpotarsal Fusion SyndromeA syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the n Conventional LeiomyosarcomaA leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.Conventional LipomaA lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones.Conventional OsteosarcomaA bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal ti Conversion DisorderA somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.COPDBreathlessness, flare-ups, inhalers, and pulmonary rehab support Copper Deficiency MyelopathyA nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, causes imbalance and jerking movements, and is caused by copper deficien Core Binding Factor Acute Myeloid LeukemiaAn acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a r Cork-Handlers' DiseaseAn extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia.Corneal DiseaseAn eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.Corneal Dystrophy-Perceptive Deafness SyndromeA syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosom Corneal Endothelial DystrophyA corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.Corneal UlcerAn open sore on the cornea.Cornea PlanaA corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D.Cornelia De Lange SyndromeA syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.Cornelia De Lange Syndrome 1A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in assoc Cornelia De Lange Syndrome 2A Cornelia de Lange syndrome that is caused by a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11.Cornelia De Lange Syndrome 3A Cornelia de Lange syndrome that is caused by heterozygous mutation in the SMC3 gene on chromosome 10q25.2.Cornelia De Lange Syndrome 4A Cornelia de Lange syndrome that is caused by heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24.Cornelia De Lange Syndrome 5A Cornelia de Lange syndrome that is caused by by mutation in the HDAC8 gene on chromosome Xq13.Cornelia De Lange Syndrome 6A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that is caused by heterozygous mutation in the BRD4 gene on chromosome 19p13.Coronary Artery DiseasePlaque narrows the arteries that supply the heart. Tracking your symptoms and connecting with others who understand can help you manage day to day.Coronary AtherosclerosisAn atherosclerosis of the coronary vasculature.Coronavirus Infectious DiseaseA viral infectious disease that is caused by Coronavirus.Coronin-1A DeficiencyA severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.Cor PulmonaleA congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in Corpus Callosum Agenesis-Abnormal Genitalia SyndromeA syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that is cau Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia SyndromeA syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature tha Corpus Callosum OligodendrogliomaA brain oligodendroglioma in the corpus callosum.Corpus Luteum CystAn ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release.Cortical DeafnessAn agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.Cortical Dysplasia-Focal Epilepsy SyndromeA brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that is caused by autosomal recessive inheritance of homozygous or compound heterozygous muta Cortical Senile CataractA senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging.Corticobasal Degeneration SyndromeA frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities.Corticosteroid AllergyA drug allergy that triggered by corticosteroid.Corticosteroid-Binding Globulin DeficiencyAn adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that is caused by heterozygous or homozygous m Corticosterone Methyloxidase Deficiency 1An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.Cortisone Reductase DeficiencyAn endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.Cortisone Reductase Deficiency 1A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resultin Cortisone Reductase Deficiency 2A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and is caused by autoso Costello SyndromeA RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.Co-Trimoxazole AllergyA drug allergy that triggered by co-trimoxazole.Cough Variant AsthmaA chronic asthma that is characterized by chronic nonproductive cough without shortness of breath.COVID-19A respiratory illness caused by the SARS-CoV-2 coronavirus.Cowden SyndromeA hamartoma syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.Cowden Syndrome 1A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and is caused by heterozygous germline mutation in the PTEN gene on chromosome 10q23.Cowden Syndrome 4A Cowden syndrome that is caused by heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23.Cowden Syndrome 5A Cowden syndrome that is caused by heterozygous mutation in the PIK3CA gene on chromosome 3q26.Cowden Syndrome 6A Cowden syndrome that is caused by heterozygous mutation in the AKT1 gene on chromosome 14q32.3.Cowden Syndrome 7A Cowden syndrome that is caused by heterozygous mutation in the SEC23B gene on chromosome 20p11.Cow Milk AllergyA milk allergy triggered by Bos taurus milk.Cowper Gland CarcinomaA male reproductive organ cancer that is caused by abnormally proliferating cells arises from epithelial cells and is in the Cowper's gland.CowpoxA viral infectious disease that causes infection in rodents, cows, and humans, in skin, is caused by Cowpox virus (Orthopoxvirus cowpox), which is transmitted by contact with an infected animal. The infection causes the COX Deficiency, Benign Infantile Mitochondrial MyopathyA cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.COX Deficiency, Infantile Mitochondrial MyopathyA cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.Crab AllergyA crustacean allergy triggered by Scylla paramamosain.Cranial Nerve DiseaseA neuropathy that is in one of the twelve cranial nerves.Cranial Nerve Malignant NeoplasmA central nervous system cancer that affects a cranial nerve, develops from schwann cells in cranial nerves, is caused by abnormally proliferating cells.Cranial Nerve PalsyA cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve.Craniodiaphyseal DysplasiaAn osteosclerosis that causes increased calcium concentration in skull which decreases the size of cranium foramina and cervical spinal canal.Cranioectodermal DysplasiaA syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.Cranioectodermal Dysplasia 1A cranioectodermal dysplasia that is caused by homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21.Cranioectodermal Dysplasia 2A cranioectodermal dysplasia that is caused by compound heterozygous mutation in the WDR35 gene on chromosome 2p24.Cranioectodermal Dysplasia 3A cranioectodermal dysplasia that is caused by homozygous mutation in the IFT43 gene on chromosome 14q24.Cranioectodermal Dysplasia 4A cranioectodermal dysplasia that is caused by compound heterozygous mutation in the WDR19 gene on chromosome 4p14.Craniofacial-Deafness-Hand SyndromeA syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that is caused by heterozygous mutation in the PAX3 gene on chromosome 2q36.1.Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypopl Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation SyndromeA syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speec Cranio-Facial DystoniaA focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.Craniofaciocardiohepatic SyndromeA syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that is caused by heterozygous mutation in t Craniofrontonasal SyndromeA syndrome that is caused by mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry,Craniolenticulosutural DysplasiaA syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It is caused by the mutation of the SEC23A gene on the 14th chromosome, with the underproduction Craniometaphyseal DysplasiaAn osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.CraniosynostosisA synostosis that causes premature fusion in skull.Craniosynostosis 1A craniosynostosis that is caused by heterozygous mutation in the TWIST1 gene on chromosome 7p21.Craniosynostosis 2A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35.Craniosynostosis 3A craniosynostosis that is caused by heterozygous mutation in the TCF12 gene on chromosome 15q21.Craniosynostosis 4A craniosynostosis that is caused by heterozygous mutation in the ERF gene on chromosome 19q13.Craniosynostosis 6A craniosynostosis that is caused by heterozygous mutation in the ZIC1 gene on chromosome 3q24.Craniosynostosis 7A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that is caused by a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome Craniosynostosis-Scoliosis SyndromeA vitamin metabolic disorder characterized by coronal craniosynostosis and thoracolumbar scoliosis, in association with facial dysmorphisms including midface hypoplasia and hypertelorism, and congenital heart disease, mo Craniotubular Dysplasia Ikegawa TypeA craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that is caused by homozygous or compound heterozygous mutation in the TM CREST SyndromeA syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.Cribriform CarcinomaA breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells.Cri-du-chat SyndromeA rare genetic disorder from a missing chromosome segment.Crigler-Najjar SyndromeA bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).Crimean-Congo Hemorrhagic FeverA viral infectious disease that is a hemorrhagic fever, is caused by Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted by Hyalomma ticks. The infection causes headache, causes h Critical COVID-19A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as me Crohn'S ColitisAn inflammatory bowel disease characterized by inflammation in colon only, causes diarrhea, causes rectal bleeding, causes skin lesions and causes formation of ulcers, fistulas and abscesses around the anus.Crohn's DiseaseInflammatory bowel disease that can affect any part of the gut. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cronkhite-Canada SyndromeA stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea.CroupA respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It i Crouzon SyndromeA genetic condition causing skull and facial abnormalities.Crouzon Syndrome-Acanthosis Nigricans SyndromeA syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that is caused by heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.Crustacean AllergyA shellfish allergy triggered by Crustacea.CryoglobulinemiaA hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.Cryopyrin-Associated Periodic SyndromesA group of rare autoinflammatory diseases.Cryptococcal MeningitisA fungal meningitis that is caused by Crypococcus fungal infection.CryptococcosisA fungal infection that can affect the lungs and brain.Cryptogenic Organizing PneumoniaAn idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (ma CryptophthalmiaA physical disorder characterized by ocular dysplasia with eyelid malformation.CryptosporidiosisA coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarr CSF1R-Related Brain Malformation and OsteopetrosisA neuroaxonal dystrophy that is caused by heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment a CST3-Related Cerebral Amyloid AngiopathyA cerebral amyloid angiopathy that is caused by an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.C SyndromeA syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that is caused by heterozygous mutation in the CD96 gene on chromos Cubital Tunnel SyndromeNerve compression at the elbow.Culler-Jones SyndromeA syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and is caused by autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline Currarino SyndromeA syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that is caused by heterozygous mutation in HLXB9 on chromosome 7q36.3.Cushing's SyndromeToo much cortisol in the body over a long period.Cushing SyndromeToo much cortisol in the body over a long time. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cutaneous AnthraxAn anthrax disease that causes infection in skin, is caused by Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection causes skin lesion that eventually forms an ulcer Cutaneous CandidiasisA candidiasis that is characterized by Candida infection in the skin.Cutaneous DiphtheriaA pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases th Cutaneous LeishmaniasisA leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.Cutaneous Lupus ErythematosusA lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.Cutaneous MycosisA fungal infectious disease that causes infection of the keratinized layers in skin, in hair or in nail, which extends deeper into the epidermis, is caused by Fungi and causes the formation of skin lesions.Cutaneous Paget'S DiseaseA skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.Cutis LaxaA skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.Cyclophosphamide AllergyA drug allergy that triggered by cyclophosphamide.CycloplegiaAn eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.CyclosporiasisA coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight los Cyclothymic DisorderA bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.Cylindrical Spirals MyopathyA congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions.CystadenocarcinomaAn adenocarcinoma that arises from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.CystadenofibromaAn ovarian benign neoplasm that is composed of epithelial ovarian tissue.CystadenomaAn adenoma that forms a cyst.CystathioninuriaAn amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that is caused by autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene enc Cystic Basal Cell CarcinomaA nodular basal cell carcinoma that is characterized by a homogenous blue/black area.Cystic EchinococcosisAn echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce che CysticercosisA taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, sub Cystic FibrosisA genetic condition that makes mucus thick and affects the lungs and digestion. Tracking your symptoms and connecting with others who understand can help you manage day to day.Cystic Kidney DiseaseA kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.Cystic Renal DysplasiaA cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that is caused by heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected p Cystic TeratomaA benign teratoma that is characterized by the presence of cysts or cystic spaces.CystinosisA rare metabolic disorder causing cystine buildup.CystinuriaAn amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.CystitisA bladder disease that is characterized by inflammation of the bladder.Cystitis CysticaA cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder.CystoisosporiasisA coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.Cytochrome-C Oxidase Deficiency DiseaseA mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related Cytochrome P450 Oxidoreductase DeficiencyA steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that is caused by homozygous or compound heterozygous mutations in th Cytomegalovirus RetinitisA retinitis that is caused by Cytomegalovirus.

Don't see your condition? Join the waitlist - new rooms open in waves.

Deeply HealthYour community, whatever the condition.

Browse all communities