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HaemonchiasisA trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thor Haemophilus MeningitisA bacterial meningitis that is caused by Haemophilus influenzae infection.Hailey-Hailey DiseaseA pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and is caused by mutations in the ATP2C1 gene that result in loss o Hair DiseaseAn integumentary system disease that is in hair.Hairy Cell LeukemiaA chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope.Hajdu-Cheney SyndromeA bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that is caused by heterozygous mutation in the NOTCH2 gene on chromosome 1p12.Hallermann-Streiff SyndromeA syndrome that affects growth, cranial development, hair growth and dental development.Hallucinogen AbuseA substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.Hallucinogen DependenceA drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance.Halperin-Birk SyndromeA syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that is caused by homozygous m HamartomaA benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.Hamartoma SyndromeA syndrome characterized by the presence of multiple benign growths called hamartomas and an increased risk of cancer.Hand, Foot and Mouth DiseaseA viral infectious disease that causes infection in skin, is caused by Enterovirus A (Enterovirus alphacoxsackie), which are transmitted by contaminated fomites, and transmitted by contact with nose and throat secretions Hand-Foot-Genital SyndromeA syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that is caused by heterozygous m Hantavirus Hemorrhagic Fever with Renal SyndromeA viral infectious disease that is a hemorrhagic fever, located in kidney, is caused by Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carrie Hantavirus Pulmonary SyndromeA viral infectious disease that results in infection located in lung, is caused by Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), is caused by Orthohantavirus nigrorivense, transmitted by co Harel-Tora Neurodevelopmental SyndromeAn autosomal dominant intellectual developmental disorder characterized by global developmental delay, hypotonia, delayed walking, variably impaired intellectual development with speech delay, and dysmorphic facial featu Harel-Yoon SyndromeA syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that is caused by heterozygous mutation in the ATAD3A gene on chr Hartnup DiseaseAn amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular Hashimoto's DiseaseThe immune system attacks the thyroid, often causing hypothyroidism. Tracking your symptoms and connecting with others who understand can help you manage day to day.Hashimoto's ThyroiditisAn autoimmune condition that attacks the thyroid gland.Haverhill FeverA primary bacterial infectious disease that causes infection, is caused by Streptobacillus moniliformis, which is transmitted by contact with urine or secretions from the mouth, eye, or nose of an infected animal or tran HawkinsinuriaAn amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawk Head and Neck CancerCancers of the mouth, throat, and neck.Head and Neck CarcinomaA head and neck cancer that is caused by epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.Head and Neck Squamous Cell CarcinomaA head and neck carcinoma that is caused by squamous cells that line the moist, mucosal surfaces inside the head and neck.Hearing LossReduced ability to hear sounds. Tracking your symptoms and connecting with others who understand can help you manage day to day.Heart CancerA cardiovascular cancer in the heart.Heart & CardiovascularHeart disease, cardiac rehab, and recovery support Heart Conduction DiseaseA cardiovascular system disease that involves the heart's electrical conduction system.Heart DiseaseA cardiovascular system disease that involves the heart.Heart FailureHeart failure means your heart can't pump blood as well as it should. Tracking your symptoms and connecting with others who understand can help you manage day to day.Heart Malignant HemangiopericytomaA heart sarcoma that is a soft tissue sarcoma located in the heart.Heart SarcomaA sarcoma and malignant neoplasm of heart that is in the heart.Heart Valve DiseaseDamage or disease affecting one or more heart valves.Heavy Chain DiseaseA hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.Heel SpurAn exostosis that causes an abnormal growth in calcaneus.Heimler Syndrome 1A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and is caused by homozygous Heimler Syndrome 2A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and is caused by compound he Heinz Body AnemiaA congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that is caused by heterozygous mutation in the HBA1,HELIX SyndromeA syndrome characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia that is caused by homozygous mutation in the CLDN10 gene on chromosome 13q32.HELLP SyndromeA severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.Helsmoortel-Van Der Aa SyndromeAn autosomal dominant intellectual developmental disorder that is caused by an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.HemangiomaA cardiovascular organ benign neoplasm that is caused by endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.HemangiopericytomaA hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.Hematologic CancerAn organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.Hematopoietic System DiseaseA disease of anatomical entity that is caused by hematopoietic cells.HemidystoniaA multifocal dystonia that involves the arm and leg on the same side of the body.HemiplegiaA central nervous system disease that is characterized by the complete paralysis of half of the body.HemochromatosisThe body absorbs too much iron. Tracking your symptoms and connecting with others who understand can help you manage day to day.Hemochromatosis Type 1A hemochromatosis that is caused by homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.Hemochromatosis Type 2A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosi Hemochromatosis Type 2AA hemochromatosis type 2 that is caused by homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.Hemochromatosis Type 2BA hemochromatosis type 2 that is caused by homozygous mutation in the HAMP gene on chromosome 19q13.Hemochromatosis Type 3A hemochromatosis that is caused by homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.Hemochromatosis Type 4A hemochromatosis that is caused by heterozygous mutation in the SLC40A1 gene on chromosome 2q32.Hemochromatosis Type 5A hemochromatosis that is caused by heterozygous mutation in the FTH1 gene on chromosome 11q12.Hemoglobin H DiseaseAn alpha thalassemia that is caused by contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the oth HemoglobinopathiesInherited disorders affecting hemoglobin structure or production.Hemolytic AnemiaRed blood cells are destroyed faster than they're made.Hemolytic Disease of the FetusA microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blo Hemolytic-Uremic SyndromeA kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.HemometraA uterine disease that is characterized by the presence of blood in the uterine cavity.HemopericardiumA pericardial effusion that results from blood in the pericardial sac.Hemophagocytic LymphohistiocytosisA rare, life-threatening immune overactivation.Hemophilia BA hemophilia that is caused by Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.Hemophilia CommunityFor people living with Hemophilia A and B, their families, and caregivers.HemopneumothoraxA pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity.Hemorrhagic CystitisA cystitis that is characterized by dysuria, hematuria and hemorrhage in the lower urinary tract.Hemorrhagic StrokeA stroke that is characterized by sudden bleeding in the brain.HemorrhoidA pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum.HemorrhoidsSwollen veins in the rectum or anus. Tracking your symptoms and connecting with others who understand can help you manage day to day.HemosiderosisAn iron metabolism disease that is caused by an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.Hengel-Maroofian-Schols SyndromeA syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features is caused by homozyg Hennekam SyndromeA lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with He Heparin Cofactor II DeficiencyA thrombophilia characterized by increased risk of thromboembolism that is caused by heterozygous mutation in the HCF2 gene on chromosome 22q11.21.Hepatic EncephalopathyA brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.Hepatic FibrosisA liver disease that is characterized by an excessive accumulation of extracellular matrix proteins that results in the development of scar tissue due to chronic inflammation or damage.Hepatic TuberculosisA gastrointestinal tuberculosis that involves infection in liver, which results in the formation of tuberculous granulomas. The infection causes fever, causes anorexia, causes weight loss, causes abdominal pain and cause Hepatic Venoocclusive Disease with ImmunodeficiencyA syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that is caused by HepatitisA liver disease that is characterized as an inflammation of the liver.Hepatitis AA viral liver infection spread through contaminated food or water.Hepatitis BA viral infection that affects the liver. Tracking your symptoms and connecting with others who understand can help you manage day to day.Hepatitis CA viral infection of the liver that is now curable with treatment. Tracking your symptoms and connecting with others who understand can help you manage day to day.Hepatitis DA viral hepatitis that causes inflammation in liver, is caused by Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who a Hepatitis EA viral hepatitis that causes inflammation in liver, is caused by Hepatitis E virus (Paslahepevirus balayani), which is transmitted by ingestion of contaminated food. The infection causes fever, causes fatigue, causes lo Hepatobiliary Benign NeoplasmA gastrointestinal system benign neoplasm in the hepatobiliary system.Hepatobiliary DiseaseA gastrointestinal system disease that is in the liver and/or biliary tract.Hepatobiliary System CancerA gastrointestinal system cancer that is in the hepatobiliary system.Hepatocellular AdenomaA liver benign neoplasm that is in liver cells and that is composed of epithelial tissue in which tumor cells form glands or glandlike structures.Hepatocellular CarcinomaA liver carcinoma that is caused by undifferentiated hepatocytes and in the liver.Hepatoid AdenocarcinomaAn adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver.Hepatoid Pattern Ovarian Yolk Sac TumorAn ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile.Hepatorenal SyndromeAn acute kidney failure that is characterized by severe renal vasoconstriction.Hepatosplenic T-Cell LymphomaA mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cel HER2-Low Breast CancerA breast cancer characterized by low levels of HER2 (EBBR2) protein.HER2 Negative Breast CancerA breast cancer that is characterized by the absence of HER2 (EBBR2) protein.HER2 Positive Breast CancerA breast cancer that is characterized by excess HER2 (EBBR2) protein.HER2-Ultralow Breast CancerA breast cancer characterized by very low, but detectable, levels of HER2 (EBBR2) protein.Hereditary Alpha Tryptasemia SyndromeA syndrome that is characterized by high blood tryptase levels and that is caused by inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the Hereditary AngioedemaA genetic condition causing swelling attacks.Hereditary Angioedema Type IA hereditrary angioedema that is caused by heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q.Hereditary Angioedema Type IIIA hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that is caused by heterozygous mutation in the ge Hereditary Arterial and Articular Multiple Calcification SyndromeA syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that is caused by homozygous or compound heterozygous mutation in the NT5E gene on chr Hereditary AtaxiaA neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.Hereditary Breast Ovarian Cancer SyndromeA syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.Hereditary Combined Deficiency of Vitamin K-Dependent Clotting FactorsA blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S result Hereditary Congenital Ptosis 1A hereditary congenital ptosis that is caused by autosomal dominant inheritance.Hereditary Congenital Ptosis 2A hereditary congenital ptosis that is caused by linkage to the X chromosome.Hereditary Desmoid DiseaseA syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that is caused by in some cases by extreme 3' mutation in APC on 5q22.2.Hereditary Diffuse Gastric CancerA diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 g Hereditary ElliptocytosisA hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.Hereditary Fallopian Tube CarcinomaA fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.Hereditary Folate MalabsorptionA vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infecti Hereditary Fructose Intolerance SyndromeA carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that is caused by homozygous or compound het Hereditary Hemorrhagic TelangiectasiaA vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.Hereditary Hypophosphatemic Rickets with HypercalciuriaA rickets that is caused by increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiog Hereditary LymphedemaA lymphedema commonly in legs, caused by congenital abnormalities in the lymphatic system.Hereditary Lymphedema IA hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood.Hereditary Lymphedema IAA hereditary lymphedema characterized by autosomal dominant inheritance that is caused by mutation in the FLT4 gene on chromosome 5q35.Hereditary Lymphedema IBA hereditary lymphedema characterized by autosomal dominant inheritance that is caused by the chromosomal region 6q16.2-q22.1.Hereditary Lymphedema ICA hereditary lymphedema characterized by autosomal dominant inheritance that is caused by mutation in the GJC2 gene on chromosome 1q42.Hereditary Lymphedema IDA hereditary lymphedema characterized by autosomal dominant inheritance that is caused by mutation in the VEGFC gene on chromosome 4q34.Hereditary Lymphedema IIA hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance.Hereditary Mixed Polyposis SyndromeAn intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.Hereditary Mixed Polyposis Syndrome 1A hereditary mixed polyposis syndrome that is caused by heterozygous duplication of a region on chromosome 15q15.3-q22.1.Hereditary Mixed Polyposis Syndrome 2A hereditary mixed polyposis syndrome that is caused by heterozygous mutation in the BMPR1A gene on chromosome 10q23.2.Hereditary Multiple ExostosesAn exostosis that is caused by a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.Hereditary Neuropathy with Liability to Pressure PalsiesA neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that is cau Hereditary NeutrophiliaA leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that is caused by heterozygous mutation in the colony s Hereditary Nonpolyposis Colorectal Cancer Type 2A Lynch syndrome that is caused by heterozygous mutation in the MLH1 gene on chromosome 3p22.2.Hereditary Nonpolyposis Colorectal Cancer Type 4A Lynch syndrome that is caused by heterozygous mutation in the PMS2 gene on chromosome 7p22.Hereditary Nonpolyposis Colorectal Cancer Type 5A Lynch syndrome that is caused by heterozygous mutation in the MSH6 gene on chromosome 2p16.Hereditary Nonpolyposis Colorectal Cancer Type 6A Lynch syndrome that is caused by heterozygous mutation in the TGFBR2 gene on chromosome 3p22.Hereditary Nonpolyposis Colorectal Cancer Type 7A Lynch syndrome that is caused by mutation in the MLH3 gene on chromosome 14q24.3.Hereditary Nonpolyposis Colorectal Cancer Type 8A Lynch syndrome that is caused by heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of Hereditary Ovarian CarcinomaAn ovary epithelial cancer that has developed in relatives of patients that have a history of ovarian carcinoma.Hereditary Papulotranslucent AcrokeratodermaA keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.Hereditary PyropoikilocytosisA hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that is caused by mutation in the alpha-spectrin or the beta-spectrin gene.Hereditary Sensory and Autonomic NeuropathyA neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that is caused by an inherited mutation. Loss of pain and temp Hereditary Sensory and Autonomic Neuropathy Type 1A hereditary sensory and autonomic neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.Hereditary Sensory and Autonomic Neuropathy Type 2A hereditary sensory and autonomic neuropathy characterized by progressive, primarily distal reduced sensation to pain, temperature, and touch with congenital to juvenile onset, autosomal recessive inheritance, and varia Hereditary Sensory and Autonomic Neuropathy Type 5A hereditary sensory and autonomic neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that is caused by homozygous mutation in the NGF g Hereditary Sensory and Autonomic Neuropathy Type 6A hereditary sensory and autonomic neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that is caused by homozygous or compo Hereditary Sensory and Autonomic Neuropathy Type 7A hereditary sensory and autonomic neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that is caused by heterozygous mutatio Hereditary Sensory and Autonomic Neuropathy Type 8A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that is caused by homozygous mutation in the PRDM12 gene on chromosome 9q34.Hereditary Sensory and Autonomic Neuropathy Type 9A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that is caused Hereditary Sensory Neuropathy Type 1DA hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporefl Hereditary Sensory Neuropathy Type 1EA hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that is caused by heterozygous mutation i Hereditary Sensory Neuropathy Type 1FA hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment that appears during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, whic Hereditary Sensory Neuropathy Type 2CA hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that is caused by homozygous or compound heterozygous mutation in the KIF1A gene on Hereditary Spastic ParaplegiaA group of inherited disorders causing leg weakness.Hereditary Spastic Paraplegia 10A hereditary spastic paraplegia that is caused by mutation in the KIF5A gene on chromosome 12q13.Hereditary Spastic Paraplegia 11A hereditary spastic paraplegia that is caused by mutation in the SPG11 gene on chromosome 15q21.Hereditary Spastic Paraplegia 12A hereditary spastic paraplegia that is caused by mutation in the RTN2 gene on chromosome 19q13.Hereditary Spastic Paraplegia 13A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and is caused by mutation in the HSPD1 gene on chromosome 2q33.Hereditary Spastic Paraplegia 14A hereditary spastic paraplegia that is caused by variation in the chromosome region 3q27-q28.Hereditary Spastic Paraplegia 15A hereditary spastic paraplegia that is caused by mutation in the ZFYVE26 gene on chromosome 14q24.1.Hereditary Spastic Paraplegia 16A hereditary spastic paraplegia that is caused by variation in the chromosome region Xq11.2.Hereditary Spastic Paraplegia 17A hereditary spastic paraplegia that is caused by mutation in the BSCL2 gene on chromosome 11q12.Hereditary Spastic Paraplegia 18A hereditary spastic paraplegia that is caused by mutation in the ERLIN2 gene on chromosome 8p11.Hereditary Spastic Paraplegia 18AA hereditary spastic paraplegia 18 that is caused by heterozygous mutation in the ERLIN2 gene on chromosome 8p11.Hereditary Spastic Paraplegia 18BA hereditary spastic paraplegia 18 that is caused by homozygous mutation in the ERLIN2 gene on chromosome 8p11.Hereditary Spastic Paraplegia 19A hereditary spastic paraplegia that is caused by variation in the chromosome region 9q.Hereditary Spastic Paraplegia 2A hereditary spastic paraplegia that is caused by mutation in the PLP1 gene on chromosome Xq22.2.Hereditary Spastic Paraplegia 23A hereditary spastic paraplegia that is caused by variation in the chromosome region 1q24-q32.Hereditary Spastic Paraplegia 24A hereditary spastic paraplegia that is caused by variation in the chromosome region 13q14.Hereditary Spastic Paraplegia 25A hereditary spastic paraplegia that is caused by variation in the chromosome region 6q23-q24.1.Hereditary Spastic Paraplegia 26A hereditary spastic paraplegia that is caused by mutation in the B4GALNT1 gene on chromosome 12q13.Hereditary Spastic Paraplegia 27A hereditary spastic paraplegia that is caused by variation in the chromosome region 10q22.1-q24.1.Hereditary Spastic Paraplegia 28A hereditary spastic paraplegia that is caused by mutation in the DDHD1 gene on chromosome 14q22.Hereditary Spastic Paraplegia 29A hereditary spastic paraplegia that is caused by variation in the chromosome region 1p31.1-p21.1.Hereditary Spastic Paraplegia 30A hereditary spastic paraplegia that is caused by mutation in the KIF1A gene on chromosome 2q37.Hereditary Spastic Paraplegia 30AA hereditary spastic paraplegia 30 that is caused by heterozygous mutation in the KIF1A gene on chromosome 2q37.Hereditary Spastic Paraplegia 30BA hereditary spastic paraplegia 30 that is caused by homozygous mutation in the KIF1A gene on chromosome 2q37.Hereditary Spastic Paraplegia 31A hereditary spastic paraplegia that is caused by mutation in the REEP1 gene on chromosome 2p11.Hereditary Spastic Paraplegia 32A hereditary spastic paraplegia that is caused by variation in the chromosome region 14q12-q21.Hereditary Spastic Paraplegia 33A hereditary spastic paraplegia that is caused by mutation in the ZFYVE27 gene on chromosome 10q24.Hereditary Spastic Paraplegia 34A hereditary spastic paraplegia that is caused by variation in the chromosome region Xq24-q25.Hereditary Spastic Paraplegia 35A hereditary spastic paraplegia that is caused by mutation in the FA2H gene on chromosome 16q23.1.Hereditary Spastic Paraplegia 36A hereditary spastic paraplegia that is caused by variation in the chromosome region 12q23-q24.Hereditary Spastic Paraplegia 37A hereditary spastic paraplegia that is caused by variation in the chromosome region 8p21.1-q13.3.Hereditary Spastic Paraplegia 38A hereditary spastic paraplegia that is caused by variation in the chromosome region 4p16-p15.Hereditary Spastic Paraplegia 39A hereditary spastic paraplegia that is caused by mutation in the PNPLA6 gene on chromosome 19p13.Hereditary Spastic Paraplegia 3AA hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and is caused by mutation in the ATL1 gene on chromosome 14q22.Hereditary Spastic Paraplegia 4A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and is caused by mutation in the SPAST gene on chromosome 2p22.Hereditary Spastic Paraplegia 41A hereditary spastic paraplegia that is caused by variation in the chromosome region 11p14.1-p11.2.Hereditary Spastic Paraplegia 42A hereditary spastic paraplegia that is caused by mutation in the SLC33A1 gene on chromosome 3q25.31.Hereditary Spastic Paraplegia 43A hereditary spastic paraplegia that is caused by mutation in the C19ORF12 gene on chromosome 19q12.Hereditary Spastic Paraplegia 44A hereditary spastic paraplegia that is caused by mutation in the GJC2 gene on chromosome 1q42.Hereditary Spastic Paraplegia 45A hereditary spastic paraplegia that is caused by mutation in the NT5C2 gene on chromosome 10q24.Hereditary Spastic Paraplegia 46A hereditary spastic paraplegia that is caused by mutation in the GBA2 gene on chromosome 9p.Hereditary Spastic Paraplegia 47A hereditary spastic paraplegia that is caused by mutation in the AP4B1 gene on chromosome 1p13.Hereditary Spastic Paraplegia 48A hereditary spastic paraplegia that is caused by mutation in the AP5Z1 gene on chromosome 7p22.1.Hereditary Spastic Paraplegia 50A hereditary spastic paraplegia that is caused by mutation in the AP4M1 gene on chromosome 7q22.1.Hereditary Spastic Paraplegia 51A hereditary spastic paraplegia that is caused by mutation in the AP4E1 gene on chromosome 15q21.Hereditary Spastic Paraplegia 52A hereditary spastic paraplegia that is caused by mutation in the AP4S1 gene on chromosome 14q12.Hereditary Spastic Paraplegia 53A hereditary spastic paraplegia that is caused by mutation in the VPS37A gene on chromosome 8p22.Hereditary Spastic Paraplegia 54A hereditary spastic paraplegia that is caused by mutation in the DDHD2 gene on chromosome 8p11.Hereditary Spastic Paraplegia 55A hereditary spastic paraplegia that is caused by mutation in the C12ORF65 gene on chromosome 12q24.Hereditary Spastic Paraplegia 56A hereditary spastic paraplegia that is caused by mutation in the CYP2U1 gene on chromosome 4q25.Hereditary Spastic Paraplegia 57A hereditary spastic paraplegia that is caused by mutation in the TFG gene on chromosome 3q12.Hereditary Spastic Paraplegia 5AA hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and is caused by mutation in the CYP7B1 gene on chromosome 8q12.Hereditary Spastic Paraplegia 6A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and is caused by mutation in the NIPA1 gene on chromosome 15q11.2.Hereditary Spastic Paraplegia 61A hereditary spastic paraplegia that is caused by mutation in the ARL6IP1 gene on chromosome 16p12.Hereditary Spastic Paraplegia 62A hereditary spastic paraplegia that is caused by mutation in the ERLIN1 gene on chromosome 10q24.Hereditary Spastic Paraplegia 63A hereditary spastic paraplegia that is caused by mutation in the AMPD2 gene on chromosome 1p13.Hereditary Spastic Paraplegia 64A hereditary spastic paraplegia that is caused by mutation in the ENTPD1 gene on chromosome 10q24.Hereditary Spastic Paraplegia 7A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and is caused by mutation in the SPG7 gene on chromosome 16q24.Hereditary Spastic Paraplegia 70A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that is caused by compound heterozygous mutation in the MARS1 gene on chromoso Hereditary Spastic Paraplegia 72AA hereditary spastic paraplegia that is caused by a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.Hereditary Spastic Paraplegia 72BA hereditary spastic paraplegia that is caused by compound heterozygous mutation in the REEP2 gene on chromosome 5q31.Hereditary Spastic Paraplegia 73A hereditary spastic paraplegia that is caused by mutation in the CPT1C gene on chromosome 19q13.Hereditary Spastic Paraplegia 74A hereditary spastic paraplegia that is caused by mutation in the IBA57 gene on chromosome 1q42.Hereditary Spastic Paraplegia 75A hereditary spastic paraplegia that is caused by mutation in the MAG gene on chromosome 19q13.Hereditary Spastic Paraplegia 76A hereditary spastic paraplegia that is caused by mutation in the CAPN1 gene on chromosome 11q13.Hereditary Spastic Paraplegia 77A hereditary spastic paraplegia that is caused by mutation in the FARS2 gene on chromosome 6p25.Hereditary Spastic Paraplegia 78A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13.Hereditary Spastic Paraplegia 79AA hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that is caused by heterozygous mutation in the UCHL1 gene on chromosome 4p13.Hereditary Spastic Paraplegia 79BA hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p Hereditary Spastic Paraplegia 8A hereditary spastic paraplegia that is caused by mutation in the KIAA0196 gene on chromosome 8q24.Hereditary Spastic Paraplegia 80A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that is caused by heterozygous mutation in the UBAP1 gene on chromosome 9p13.3.Hereditary Spastic Paraplegia 81A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that is caused by homozygous or compound heterozygous mutation in the Hereditary Spastic Paraplegia 82A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that is caused by homozygous or c Hereditary Spastic Paraplegia 83A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that is caused by homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.Hereditary Spastic Paraplegia 84A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that is caused by homozygous or compo Hereditary Spastic Paraplegia 85A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that is caused by homozygous or compound heterozygous mutatio Hereditary Spastic Paraplegia 86A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that is cause Hereditary Spastic Paraplegia 87A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that is caused by homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3.Hereditary Spastic Paraplegia 88A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that is caused by heterozygous mutation in the KPNA3 gene on chro Hereditary Spastic Paraplegia 89A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that is caused by homozygous mutation in the AMFR gene on chromosome 16q13.Hereditary Spastic Paraplegia 90AA hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that is caused by heterozygous mutation in the SPTSSA gene on chromosome 14q13.1.Hereditary Spastic Paraplegia 90BA hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that is caused by homozygous mutation in the SPTSSA gene on chromosome 14q13.1.Hereditary Spastic Paraplegia 91A hereditary spastic paraplegia that is caused by heterozygous mutation in the SPTAN1 gene on chromosome 9q34.Hereditary Spastic Paraplegia 92A hereditary spastic paraplegia that is caused by homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23.Hereditary Spastic Paraplegia 93A hereditary spastic paraplegia that is caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13.Hereditary Spastic Paraplegia 9AA hereditary spastic paraplegia that is caused by autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.Hereditary Spastic Paraplegia 9BA hereditary spastic paraplegia that is caused by autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.Hereditary SpherocytosisA congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.Hereditary Spherocytosis Type 1A hereditary spherocytosis that is caused by an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.Hereditary Spherocytosis Type 2A hereditary spherocytosis that is caused by an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.Hereditary Spherocytosis Type 3A hereditary spherocytosis that is caused by an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.Hereditary Spherocytosis Type 4A hereditary spherocytosis that is caused by an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.Hereditary Spherocytosis Type 5A hereditary spherocytosis that is caused by a mutation of the EPB42 gene on chromosome 15q15.2.Hereditary Systemic Amyloidosis 1An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organ Hereditary Systemic Amyloidosis 2An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is in the visceral organs, primarily the kidneys.Hereditary Wilms' TumorA nephroblastoma that causes either bilateral disease or a family history of Wilms' tumour.Hermansky-Pudlak SyndromeA syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.Hermansky-Pudlak Syndrome 1A Hermansky-Pudlak syndrome that is caused by homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.Hermansky-Pudlak Syndrome 10A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that is Hermansky-Pudlak Syndrome 11A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that is caused by homozygous mutation in the BLOC1S5 gene on chromosome 6p24.Hermansky-Pudlak Syndrome 2A Hermansky-Pudlak syndrome that is caused by homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.Hermansky-Pudlak Syndrome 3A Hermasky-Pudlak syndrome that is caused by homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.Hermansky-Pudlak Syndrome 4A Hermansky-Pudlak syndrome that is caused by homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.Hermansky-Pudlak Syndrome 5A Hermansky-Pudlak syndrome that is caused by homozygous mutation in the HPS5 gene on chromosome 11p14.Hermansky-Pudlak Syndrome 6A Hermansky-Pudlak syndrome that is caused by homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.Hermansky-Pudlak Syndrome 7A Hermansky-Pudlak syndrome that is caused by homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.Hermansky-Pudlak Syndrome 8A Hermansky-Pudlak syndrome that is caused by homozygous mutation in the BLOC1S3 gene on chromosome 19q13.Hermansky-Pudlak Syndrome 9A Hermansky-Pudlak syndrome that is caused by homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.Hernia of Ovary and Fallopian TubeA female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall.Herniated DiscA spinal disc bulges or ruptures, pressing on nerves.Heroin DependenceAn opiate dependence that involves the continued use of heroin despite problems related to use of the substance.HerpanginaA viral infectious disease that results in infection located in mouth, is caused by Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food conta Herpes SimplexA viral infection causing cold sores or genital sores.Herpes Simplex Virus KeratitisA keratitis that is caused by herpes simplex type infection.Herpes ZosterA viral infectious disease that causes infection in nerve fiber, is caused by Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted by di Herpetic GastritisA viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus (Simplexvirus humanalpha1 or Simplexvirus humanalpha2).Herpetic WhitlowA herpes simplex that causes infection in skin of the finger, toe, or thumb, is caused by Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2) and causes lesions, causes fever, and causes swolle HeterophyiasisA parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results Hexahydrophthalic Anhydride Allergic AsthmaAn allergic asthma that triggered by hexahydrophthalic anhydride.Hexamethylene Diisocyanate Allergic AsthmaAn isocyanates allergic asthma that triggered by hexamethylene diisocyanate.HidradenitisA sweat gland disease that is characterized by inflammation of the apocrine sweat glands and causes erythema, edema, papules, plaques, pruritis, and pain.Hidradenitis SuppurativaPainful lumps under the skin, often where skin rubs. Tracking your symptoms and connecting with others who understand can help you manage day to day.HidradenomaA sweat gland benign neoplasm that is in an apical sweat gland.High CholesterolToo much cholesterol in the blood can build up in arteries over time. Tracking your symptoms and connecting with others who understand can help you manage day to day.High-Grade Astrocytoma with Piloid FeaturesAn anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.High-Grade B-Cell Lymphoma Double-Hit/Triple-HitA large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes.High Grade EpendymomaA high grade glioma that is derived from ependymal cells, a type of glial cell, in ventricle lining within the central part of the brain.High Grade GliomaA cell type cancer that is caused by glial cells and is located in brain or located in spine.High Molecular Weight Kininogen DeficiencyA blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that is caused by hom High Myopia-Sensorineural Deafness SyndromeA syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31 Hip DysplasiaA birth defect where the hip joint is unstable.Hirata DiseaseAn autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.Hirschsprung'S DiseaseA megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.Histidine Metabolism DiseaseAn amino acid metabolic disorder that involves deficiency in histidine.HistidinemiaA histidine metabolism disease characterized by a deficiency of the enzyme histidase.Histiocytic and Dendritic Cell CancerA sarcoma and hematologic cancer that arises from follicular lymphoma.Histiocytic SarcomaA histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.HistiocytosisA lymphatic system disease that is characterized by an excessive number of histiocytes.Histiocytosis-Lymphadenopathy Plus SyndromeA syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that is caused by homozygous or compound heterozygous muta Histone Mutated TumorA high grade glioma that is caused by mutations in the genes encoding histones.HistoplasmosisA fungal infection from inhaling spores from soil.Histrionic Personality DisorderA personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adult HIVA virus that attacks the immune system; treatment enables a long, healthy life. Tracking your symptoms and connecting with others who understand can help you manage day to day.HIV/AIDSA virus that weakens the immune system.HivesRaised, itchy welts that appear suddenly.HMG-CoA Synthase 2 DeficiencyAn amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglyce Hodgkin LymphomaA type of lymphoma with characteristic Reed-Sternberg cells.Hodgkin'S LymphomaA lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.Holocarboxylase Synthetase DeficiencyA multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase.HoloprosencephalyA congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.Holoprosencephaly 1A holoprosencephaly that is caused by variation in the chromosome region 21q22.3.Holoprosencephaly 11A holoprosencephaly that is caused by heterozygous mutation in the CDON gene on chromosome 11q24.Holoprosencephaly 12A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that is caused by heteroz Holoprosencephaly 13, X-LinkedA holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that is caused by heterozygous mutation in the STAG2 gene on chromosome Xq25.Holoprosencephaly 2A holoprosencephaly that is caused by mutation in the homeobox-containing SIX3 gene on chromosome 2p21.Holoprosencephaly 3A holoprosencephaly that is caused by heterozygous mutation in the SHH gene on chromosome 7q36.Holoprosencephaly 4A holoprosencephaly that is caused by heterozygous mutation in the TGIF gene on chromosome 18p11.Holoprosencephaly 5A holoprosencephaly that is caused by heterozygous mutation in the ZIC2 gene on chromosome 13q32.Holoprosencephaly 6A holoprosencephaly that is caused by variation in the chromosome region 2q37.1-q37.3.Holoprosencephaly 7A holoprosencephaly that is caused by heterozygous mutation in the PTCH1 gene on chromosome 9q22.Holoprosencephaly 8A holoprosencephaly that is caused by variation in the chromosome region 14q13.Holoprosencephaly 9A holoprosencephaly that is caused by heterozygous mutation in the GLI2 gene on chromosome 2q14.Holt-Oram SyndromeA syndrome characterized by congenital anomalies in heart and in upper limb.Holzgreve-Wagner-Rehder SyndromeA syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.HomocarnosinosisA gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and is caused by a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.HomocystinuriaA metabolic disorder affecting amino acid processing.Homocystinuria-Megaloblastic Anemia CblE TypeAn amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblast Homocystinuria-Megaloblastic Anemia CblG TypeAn amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable f HookwormA parasitic worm infection from contaminated soil.HordeolumAn eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection.Hordeolum ExternumA blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll.Hormone Receptor-Negative Breast CancerA breast cancer characterized by the absence of hormone receptors.Hormone Receptor-Negative/HER2-Positive Breast CancerA HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and the absence of both the estrogen and progesterone receptors.Hormone Receptor-Positive Breast CancerA breast cancer characterized by the presence of at least one of the estrogen or progesterone receptors.Hormone Receptor-Positive/HER2-Negative Breast CancerA HER2 negative breast cancer characterized by at least one of the estrogen or progesterone receptors and the absence of HER2 (EBBR2) protein.Hormone Receptor-Positive/HER2-Positive Breast CancerA HER2 positive breast cancer characterized by excess HER2 (ERBB2) protein and at least one of the estrogen or progesterone receptors.Horned Turban Snail AllergyA snail allergy triggered by the horned turban snail.Horner'S SyndromeAn autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathet Hot Water EpilepsyA reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head.Hot Water Epilepsy 1A hot water epilepsy that is caused by a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3.Hot Water Epilepsy 2A hot water epilepsy that is caused by linkage to chromosome 4q24-q28.HRPT-Related HyperuricemiaA hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that is caused by hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.HTLV-1-Associated Myelopathy/Tropical Spastic ParaparesisA viral infectious disease that results in inflammation located in spinal cord, is caused by human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breas Human Cytomegalovirus InfectionA viral infectious disease that is caused by Human betaherpesvirus 5 (Cytomegalovirus humanbeta5).Human Granulocytic AnaplasmosisAn ehrlichiosis that results in infection located in granular leukocyte, is caused by Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symp Human Immunodeficiency Virus Infectious DiseaseA viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, is caused by Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immun Human Monocytic EhrlichiosisAn ehrlichiosis that results in infection located in monocyte or located in macrophage, is caused by Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legg Human PapillomavirusA common virus that can cause warts and some cancers.Human Papillomavirus Infectious DiseaseA viral infectious disease that is caused by human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors Humeroradial SynostosisA synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, i Hunter SyndromeA rare metabolic disorder affecting many organs.Huntington's DiseaseAn inherited condition that affects movement, thinking, and mood. Tracking your symptoms and connecting with others who understand can help you manage day to day.Huntington'S Disease-Like 1A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that is caused by autosomal dominant inheritance of 8 extra Huntington'S Disease-Like 2A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after Hurler SyndromeA rare metabolic disorder from enzyme deficiency.Hyaline Body MyopathyA congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that is caused by mutation Hyaline Fibromatosis SyndromeA connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractur HydrocephalusFluid buildup in the brain that increases pressure.Hydrolethalus SyndromeA syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a cent Hydrolethalus Syndrome 1A hydrolethalus syndrome that is caused by homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2.Hydrolethalus Syndrome 2A hydrolethalus syndrome that is caused by homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1.HydronephrosisSwelling of a kidney from urine backup.HydrophthalmosA primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and causes early vision loss, increased corneal diameter, and incr HydroxykynureninuriaAn amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that is caused by homozygous or compound hetero HydroxyprolinemiaAn amino acid metabolic disorder that is characterized by elevated hydroxyproline levels, caused by a deficiency of the hydroxyproline oxidase enzyme resulting in deficient degradation of hydroxyproline, and that is caus HymenolepiasisA parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and wea Hyperalphalipoproteinemia 1A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that is caused by heterozygous mutation in the CETP gene on chromosome 16q13.HyperargininemiaAn urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.HyperekplexiaA nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.Hyperekplexia 1A hyperekplexia that is caused by heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.Hyperekplexia 2A hyperekplexia that is caused by compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.Hyperekplexia 3A hyperekplexia that is caused by homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.Hyperekplexia 4A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that is caused by homozygous mutation in the ATAD1 gene on chromosome 10q23.Hypereosinophilic SyndromeA leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.Hyperferritinemia-Cataract SyndromeA syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that is caused by heterozygous mutation in the iron responsive element in the 5-prime noncoding region o HyperhidrosisExcessive sweating beyond what's needed to cool the body.HyperhomocysteinemiaAn amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.Hyper IGE Recurrent Infection Syndrome 2A hyper IgE syndrome that is caused by homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24.Hyper IGE Recurrent Infection Syndrome 4A hyper IgE syndrome that is caused by homozygous mutation in the IL6ST gene on chromosome 5q11.Hyper IGE SyndromeA hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.Hyper IGM SyndromeA hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.Hyperimmunoglobulinemia D Periodic Fever SyndromeA hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that is caused by homozygous or compound heterozygous mutation in the gene en Hyperimmunoglobulin SyndromeA B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others.Hyperinsulinemic HypoglycemiaA carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.Hyperlipoproteinemia Type IIIA familial hyperlipidemia that is caused by by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.Hyperlucent LungA lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT.HyperlysinemiaAn amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.Hypermanganesemia with DystoniaA metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese.Hypermanganesemia with Dystonia 1A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and is caused by homozygous mutation in th Hypermanganesemia with Dystonia 2A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and is caused by homozygous mutation in the SLC39A14 gene on chromosome 8p21.HypermethioninemiaAn amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.Hypermethioninemia Due to Adenosine Kinase DeficiencyA hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethionine Hypermethioninemia with Deficiency of S-Adenosylhomocysteine HydrolaseA hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that is caused by compound heterozygous mutation HyperopiaFarsightedness - distant objects are clear, close ones are blurry.HyperostosisA bone remodeling disease that results in an abnormal growth of located in bone.HyperparathyroidismOveractive parathyroid glands raise blood calcium.Hyperphosphatasia with Impaired Intellectual Development SyndromeAn autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad HyperphosphatemiaA phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and is caused by mutations in the Hyperphosphatemic Familial Tumoral CalcinosisA calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that is caused by mutation in the GALNT3 gene, the FGF23 Hyperpigmentation of EyelidAn eyelid disease that is characterized by dark eyelids.HyperprolactinemiaAn acquired metabolic disease that is caused by the presence of abnormally-high levels of prolactin in the blood.HyperprolinemiaAn amno acid metabolic disorder that is characterized by the excess of proline in the blood.Hyperprolinemia Type 1A hyperprolinemia that is caused by homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.Hyperprolinemia Type 2A hyperprolinemia that is caused by homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.Hypersecretion GlaucomaA glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss.Hypersensitivity Reaction DiseaseAn immune system disease that is caused by abnormal immune responses.Hypersensitivity Reaction Type III DiseaseA hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.Hypersensitivity Reaction Type IV DiseaseA hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.Hypersensitivity VasculitisA hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and causes purpura, telangiectasia, blistering, urticaria, and ulcers.HypersomniaExcessive daytime sleepiness despite adequate sleep.Hypertelorism, Microtia, Facial Clefting SyndromeA syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.HypertensionBlood pressure tracking, medication support, and heart-health community Hypertension and Brachydactyly SyndromeA syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered barorefle Hypertensive Heart DiseaseA heart disease that is caused by high blood pressure.HyperthyroidismAn overactive thyroid that speeds up the body's metabolism. Tracking your symptoms and connecting with others who understand can help you manage day to day.HyperthyroxinemiaA thyroid gland disease that is characterized by elevated thyroxine levels in the blood.HypertrichosisA hair disease characterized by hair growth that is abnormal in quantity or location.Hypertrichotic Osteochondrodysplasia Cantu TypeAn osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly.Hypertrophic CardiomyopathyThickened heart muscle that can obstruct blood flow.Hypertrophic Cardiomyopathy 1A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the MYH7 gene on chromosome 14q12.Hypertrophic Cardiomyopathy 10A familial hypertrophic cardiomyopathy that is caused by mutation in the MYL2 gene.Hypertrophic Cardiomyopathy 11A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the ACTC1 gene on chromosome 15q14.Hypertrophic Cardiomyopathy 12A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the CSRP3 gene on chromosome 11p15.Hypertrophic Cardiomyopathy 13A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the TNNC1 gene on chromosome 3p21.Hypertrophic Cardiomyopathy 14A familial hypertrophic cardiomyopathy that is caused by mutation in the MYH6 gene.Hypertrophic Cardiomyopathy 15A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.Hypertrophic Cardiomyopathy 16A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the MYOZ2 gene on chromosome 4q26.Hypertrophic Cardiomyopathy 17A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.Hypertrophic Cardiomyopathy 18A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.Hypertrophic Cardiomyopathy 2A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the cardiac troponin-T2 gene (TNNT2).Hypertrophic Cardiomyopathy 20A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the NEXN gene on chromosome 1p31.1.Hypertrophic Cardiomyopathy 21A familial hypertrophic cardiomyopathy associated that is caused by region 7p12.1-q21 variation.Hypertrophic Cardiomyopathy 25A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the TCAP gene on chromosome 17q12.Hypertrophic Cardiomyopathy 26A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the FLNC gene on chromosome 7q32.Hypertrophic Cardiomyopathy 27A familial hypertrophic cardiomyopathy characterized by biventricular involvement and atypical distribution of hypertrophy that is caused by homozygous or compound heterozygous mutation in the ALPK3 gene on chromosome 15 Hypertrophic Cardiomyopathy 3A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.Hypertrophic Cardiomyopathy 4A familial hypertrophic cardiomyopathy that is caused by heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.Hypertrophic Cardiomyopathy 6A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2).Hypertrophic Cardiomyopathy 7A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the TNNI3 gene on chromosome 19q13.4.Hypertrophic Cardiomyopathy 8A familial hypertrophic cardiomyopathy that is caused by homozygous or heterozygous mutation in the MYL3 gene.Hypertrophic Cardiomyopathy 9A familial hypertrophic cardiomyopathy that is caused by heterozygous mutation in the TTN gene on chromosome 2q31.Hypertrophic Pyloric StenosisA pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.Hypertrophy of BreastA breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.HyperuricemiaAn acquired metabolic disease that is caused by an abnormally high level of uric acid in the blood.Hypervalinemia and Hyperleucine-IsoleucinemiaAn amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that is caused by compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.Hypervitaminosis aAn overnutrition that is characterized by excess vitamin A, causes hepatomegaly, anorexia, fever, alopecia, and arthralgia, and is caused by excessive intake of vitaimin A, and/or derangement of vitamin A metabolism.Hypervitaminosis DAn overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, causes myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly HypobetalipoproteinemiaA hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.HypocholesteremiaA disease of metabolism characterized by resence of abnormally low (hypo-) levels of cholesterol in the blood (-emia).HypochondriasisA somatoform disorder that involves an excessive preoccupation or worry about having a serious illness.HypochondrogenesisAn osteochondrodysplasia that is caused by a mutation in the COL2A1 gene which affects bone growth and causes a small body, hydrops fetalis, and abnormal ossification in vertebral column or in pelvis. The disease causes HypochondroplasiaAn osteochondrodysplasia that is caused by mutation in the FGFR3 gene which affects ossification of cartilage and causes short limb dwarfism.Hypochromic AnemiaAn anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading c Hypochromic Microcytic AnemiaA microcytic anemia characterized by paler than normal blood cells.HypodermyiasisA myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causin Hypoglossal Nerve DiseaseA glossopharyngeal nerve disease that is in the hypoglossal nerve (twelfth cranial nerve).HypoglycemiaA glucose metabolism disease that is characterized by abnormally low levels of blood glucose.Hypoglycemic ComaA brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, causes decreased cognition, causes seizure, and causes coma.HypogonadismA gonadal disease that is characterized by diminished functional activity of the gonads.Hypogonadotropic HypogonadismA hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone.Hypogonadotropic Hypogonadism 10 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous mutation in the TAC3 gene on chromosome 12q13.Hypogonadotropic Hypogonadism 11 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous mutation in the TACR3 gene on chromosome 4q24.Hypogonadotropic Hypogonadism 12 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous mutation in the GNRH1 gene on chromosome 8p21.Hypogonadotropic Hypogonadism 13 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous mutation in the KISS1 gene on chromosome 1q32.Hypogonadotropic Hypogonadism 14 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the WDR11 gene on chromosome 10q26.Hypogonadotropic Hypogonadism 15 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 16 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 17 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 18 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes.Hypogonadotropic Hypogonadism 19 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 1 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.Hypogonadotropic Hypogonadism 20 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 21 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.Hypogonadotropic Hypogonadism 22 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous mutation in the FEZF1 gene on chromosome 7q31.Hypogonadotropic Hypogonadism 23 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.Hypogonadotropic Hypogonadism 24 Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.Hypogonadotropic Hypogonadism 2 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes.Hypogonadotropic Hypogonadism 3 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene.Hypogonadotropic Hypogonadism 4 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene.Hypogonadotropic Hypogonadism 5 with or Without AnosmiaA hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and is caused by heterozygous mutation in the CHD7 gene on chromosome 8q12.Hypogonadotropic Hypogonadism 6 with or Without AnosmiaA hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and is caused by heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.Hypogonadotropic Hypogonadism 7 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have b Hypogonadotropic Hypogonadism 8 with or Without AnosmiaA hypogonadotropic hypogonadism that is caused by homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.Hypogonadotropic Hypogonadism 9 with or Without AnosmiaA hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and is caused by heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.HypohidrosisA sweat gland disease that is characterized by reduced ability to sweat, causes hyperthermia and dry skin of affected areas, and is caused by trauma to the sweat glands.Hypohidrotic Ectodermal DysplasiaAn ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sw Hypoinsulinemic Hypoglycemia with HemihypertrophyAn inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that is caused by heterozygous activating mutation in the AKT2 HypolipoproteinemiaA lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.Hypomelanosis of ItoA skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation).Hypomyelinating LeukodystrophyA leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging.Hypomyelinating Leukodystrophy 10A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that is caused by homozygous mutation Hypomyelinating Leukodystrophy 11A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that is caused by homozygous or compound Hypomyelinating Leukodystrophy 12A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and d Hypomyelinating Leukodystrophy 13A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventric Hypomyelinating Leukodystrophy 14A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that is caused by homozygous mutation in the UFM1 gene on chromo Hypomyelinating Leukodystrophy 15A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that is caused by homozygous or compound heterozygous mutation in the E Hypomyelinating Leukodystrophy 16A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that is caused by heterozygous mutation in the TMEM106B gene on chromosome 7p21.Hypomyelinating Leukodystrophy 17A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that is caused by homozygous mutation in the AIMP2 gene on chromosome 7p22.Hypomyelinating Leukodystrophy 18A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that is caused by homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42.Hypomyelinating Leukodystrophy 19A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that is caused by heterozygous mutation in the TMEM63A gen Hypomyelinating Leukodystrophy 2A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that is caused by homo Hypomyelinating Leukodystrophy 20A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that is caused by homozygous or compound heterozygous Hypomyelinating Leukodystrophy 21A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that is caused by homozygous mutation i Hypomyelinating Leukodystrophy 22A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that is caused by heterozygo Hypomyelinating Leukodystrophy 23A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that is caused by homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death Hypomyelinating Leukodystrophy 24A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that is caused by heterozygous mutation in the ATP11A gene on chromosome 13q34.Hypomyelinating Leukodystrophy 25A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that is caused by heterozygous mutation in the TMEM163 gene on ch Hypomyelinating Leukodystrophy 26A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that is cause Hypomyelinating Leukodystrophy 3A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associa Hypomyelinating Leukodystrophy 4A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that is caused by homozygous muta Hypomyelinating Leukodystrophy 5A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that is caused by homozygous mutation in the FAM1 Hypomyelinating Leukodystrophy 6A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia,Hypomyelinating Leukodystrophy 7A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive reg Hypomyelinating Leukodystrophy 8A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable develop Hypomyelinating Leukodystrophy 9A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that is caused by compound heterozygous mutation in the RARS gene on chromos Hypomyelinating LeukoencephalopathyAn autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.HypoparathyroidismUnderactive parathyroid glands lower blood calcium.Hypoparathyroidism-Deafness-Renal Disease SyndromeA chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that is caused by chromosome deletion that results i Hypoparathyroidism-Retardation-Dysmorphism SyndromeA syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that is caused by homozygous or compound heterozygous mutation in Hypopharynx CancerA pharynx cancer that is in the hypopharynx.HypophosphatasiaA syndrome characterized by disruption of mineralization of bones and teeth that is caused by mutation in the ALPL gene on chromosome 1p36.12.HypophosphatemiaA phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis.Hypophosphatemic Nephrolithiasis/OsteoporosisA kidney disease that is characterized by formation of renal calcium stones or bone demineralization.Hypophosphatemic Nephrolithiasis/Osteoporosis 1A hypophosphatemic nephrolithiasis/osteoporosis that is caused by heterozygous mutation in the SLC34A1 gene on chromosome 5q35.Hypophosphatemic Nephrolithiasis/Osteoporosis 2A hypophosphatemic nephrolithiasis/osteoporosis that is caused by heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1.Hypopigmentation of EyelidA pigmentation disease that is characterized by loss of pigmentation of the eyelid and causes white or light macules or patches on the eyelid, and is caused by autoimmune conditions like vitiligo, chronic inflammation, m HypopituitarismA pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.Hypoplastic Left Heart SyndromeA congenital heart disease characterized by abnormal development of the left-sided structures of the heart.Hypoplastic or Aplastic Tibia with PolydactylyA syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that is caused by heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 ge Hypoplastic Right Heart SyndromeA congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.HypospadiasA birth defect where the urethra opens on the underside of the penis.Hyposulfatemia with Skeletal DysplasiaAn inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal Hypothalamic DiseaseA brain disease in the hypothalamus.HypothyroidismAn underactive thyroid that slows the body's metabolism. Tracking your symptoms and connecting with others who understand can help you manage day to day.Hypotonia, Ataxia, and Delayed Development SyndromeA syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebe Hypotonia-Cystinuria SyndromeA syndrome that is caused by homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized by neonatal and infantile hypotonia and f HypotrichosisA hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and is caused by mutations in proteins involved in hair growth, division or proliferation of cells within Hypotrichosis 1A hypotrichosis that is caused by a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22.Hypotrichosis 10A hypotrichosis that is caused by an autosomal recessive mutation on chromosome 7p22.3-p21.3.Hypotrichosis 11A hypotrichosis that is caused by a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1.Hypotrichosis 12A hypotrichosis that is caused by a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2.Hypotrichosis 13A hypotrichosis that is caused by a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13.Hypotrichosis 14A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that is caused by homozygous or compound heterozygous mutation in the Hypotrichosis 15A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that is caused by homozygous mutation in the C3ORF52 gene on chromosome Hypotrichosis 2A hypotrichosis that is caused by a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33.Hypotrichosis 3A hypotrichosis that is caused by a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13.Hypotrichosis 4A hypotrichosis that is caused by a autosomal dominant mutation of HR on chromosome 8p21.3.Hypotrichosis 5A hypotrichosis that is caused by a mutation on chromosome 1p21.1-q21.3.Hypotrichosis 6A hypotrichosis that is caused by a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.Hypotrichosis 7A hypotrichosis that is caused by a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2.Hypotrichosis 8A hypotrichosis is caused by a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2.Hypotrichosis 9A hypotrichosis that is caused by an autosomal recessive mutation on chromosome 10q11.23-q22.3.Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect SyndromeA syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.33.Hypotrichosis-Lymphedema-Telangiectasia SyndromeA syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that is caused by homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20

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