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What are the symptoms of Oculodentoosseous dysplasia recessive ? | What are the signs and symptoms of Oculodentoosseous dysplasia recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculodentoosseous dysplasia recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Oculodentoosseous dysplasia recessive |
What are the symptoms of Potato nose ? | What are the signs and symptoms of Potato nose? The Human Phenotype Ontology provides the following list of signs and symptoms for Potato nose. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... | Potato nose |
What are the symptoms of Mental retardation Smith Fineman Myers type ? | What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Mental retardation Smith Fineman Myers type |
What is (are) Birt-Hogg-Dube syndrome ? | Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occ... | Birt-Hogg-Dube syndrome |
What are the symptoms of Birt-Hogg-Dube syndrome ? | What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Birt-Hogg-Dube syndrome |
What are the treatments for Birt-Hogg-Dube syndrome ? | How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended man... | Birt-Hogg-Dube syndrome |
What is (are) Blue rubber bleb nevus syndrome ? | Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even thoug... | Blue rubber bleb nevus syndrome |
What are the symptoms of Blue rubber bleb nevus syndrome ? | What are the signs and symptoms of Blue rubber bleb nevus syndrome? Symptoms and severity of blue rubber bleb nevus syndrome varies greatly from person to person. In general, blue rubber bleb nevus syndrome is characterized by skin spots (nevi) that may be few to hundreds in number. Size tends varies from millimeters ... | Blue rubber bleb nevus syndrome |
What causes Blue rubber bleb nevus syndrome ? | What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known. | Blue rubber bleb nevus syndrome |
What are the treatments for Blue rubber bleb nevus syndrome ? | How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the ... | Blue rubber bleb nevus syndrome |
What are the symptoms of Histidinemia ? | What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | Histidinemia |
What is (are) Klumpke paralysis ? | Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an inj... | Klumpke paralysis |
What are the treatments for Klumpke paralysis ? | How might Klumpke paralysis be treated? The affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery. Most infants recover from neuro... | Klumpke paralysis |
What is (are) Optic atrophy 1 ? | Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include diff... | Optic atrophy 1 |
What are the symptoms of Optic atrophy 1 ? | What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... | Optic atrophy 1 |
What is (are) MYH-associated polyposis ? | MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is... | MYH-associated polyposis |
What are the symptoms of MYH-associated polyposis ? | What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | MYH-associated polyposis |
What causes MYH-associated polyposis ? | What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrow... | MYH-associated polyposis |
What are the symptoms of Crome syndrome ? | What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | Crome syndrome |
What are the symptoms of Auriculo-condylar syndrome ? | What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Auriculo-condylar syndrome |
What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ? | What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. If the information is ... | Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch |
What is (are) Warm antibody hemolytic anemia ? | Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatig... | Warm antibody hemolytic anemia |
What are the symptoms of Warm antibody hemolytic anemia ? | What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Warm antibody hemolytic anemia |
What are the symptoms of Snowflake vitreoretinal degeneration ? | What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Snowflake vitreoretinal degeneration |
What are the symptoms of Hypomagnesemia 6 ? | What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | Hypomagnesemia 6 |
What is (are) Scleroderma ? | Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types als... | Scleroderma |
What are the symptoms of Scleroderma ? | What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... | Scleroderma |
What are the treatments for Scleroderma ? | How might scleroderma be treated? Currently, there is not a cure for scleroderma, however treatments are available to relieve symptoms and limit damage. Treatment will vary depending on your symptoms. | Scleroderma |
What are the symptoms of Spastic paraplegia facial cutaneous lesions ? | What are the signs and symptoms of Spastic paraplegia facial cutaneous lesions? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia facial cutaneous lesions. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Spastic paraplegia facial cutaneous lesions |
What are the symptoms of Ellis Yale Winter syndrome ? | What are the signs and symptoms of Ellis Yale Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis Yale Winter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Ellis Yale Winter syndrome |
What is (are) CHILD syndrome ? | CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The developme... | CHILD syndrome |
What are the symptoms of CHILD syndrome ? | What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | CHILD syndrome |
What is (are) Amniotic band syndrome ? | Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputati... | Amniotic band syndrome |
What are the symptoms of Amniotic band syndrome ? | What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and r... | Amniotic band syndrome |
What causes Amniotic band syndrome ? | What causes amniotic bands? Amniotic bands are caused by damage to a part of the placenta called the amnion. Damage to the amnion may produce fiber-like bands that can trap parts of the developing baby. | Amniotic band syndrome |
How to diagnose Amniotic band syndrome ? | How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more... | Amniotic band syndrome |
What are the treatments for Amniotic band syndrome ? | How might amniotic band syndrome be treated? Mild cases may not require treatment, however all bands need monitoring as growth occurs to watch for progressive constriction and swelling. Other constrictions may require surgical management; surgical options will vary depending on the abnormality. People with amniotic ban... | Amniotic band syndrome |
What is (are) Sudden infant death syndrome ? | Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of dea... | Sudden infant death syndrome |
What are the symptoms of Sudden infant death syndrome ? | What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Sudden infant death syndrome |
What is (are) Klebsiella infection ? | Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. However, people who are hosp... | Klebsiella infection |
What are the symptoms of Klebsiella infection ? | What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in s... | Klebsiella infection |
What causes Klebsiella infection ? | What causes Klebsiella infections? Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria. These bacteria are usually found in human intestines where they do not cause infections. To get a Klebsiella infection, a person must be exposed t... | Klebsiella infection |
How to diagnose Klebsiella infection ? | How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebs... | Klebsiella infection |
What are the treatments for Klebsiella infection ? | How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibi... | Klebsiella infection |
What are the symptoms of Glaucoma 3 primary infantile B ? | What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Glaucoma 3 primary infantile B |
What are the symptoms of Ulna and fibula, hypoplasia of ? | What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Ulna and fibula, hypoplasia of |
What is (are) Leri Weill dyschondrosteosis ? | Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress du... | Leri Weill dyschondrosteosis |
What are the symptoms of Leri Weill dyschondrosteosis ? | What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Leri Weill dyschondrosteosis |
What are the symptoms of Dextrocardia with unusual facies and microphthalmia ? | What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. If the information is available, the table below includes how often the symptom is seen in peopl... | Dextrocardia with unusual facies and microphthalmia |
What is (are) 3-Hydroxyisobutyric aciduria ? | 3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of ... | 3-Hydroxyisobutyric aciduria |
What are the symptoms of 3-Hydroxyisobutyric aciduria ? | What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly)... | 3-Hydroxyisobutyric aciduria |
What causes 3-Hydroxyisobutyric aciduria ? | What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, whic... | 3-Hydroxyisobutyric aciduria |
Is 3-Hydroxyisobutyric aciduria inherited ? | Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents ... | 3-Hydroxyisobutyric aciduria |
What are the treatments for 3-Hydroxyisobutyric aciduria ? | How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees o... | 3-Hydroxyisobutyric aciduria |
What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ? | What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condit... | X-linked hypohidrotic ectodermal dysplasia |
What is (are) Glutaric acidemia type III ? | Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal ra... | Glutaric acidemia type III |
What are the symptoms of Glutaric acidemia type III ? | What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Glutaric acidemia type III |
What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ? | What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. If the information is available, the table below includes how often the symptom is seen in peo... | Keratosis follicularis dwarfism and cerebral atrophy |
What is (are) Bell's palsy ? | Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, d... | Bell's palsy |
What are the symptoms of Bell's palsy ? | What are the symptoms of Bell's palsy? | Bell's palsy |
What causes Bell's palsy ? | What causes Bell's palsy? | Bell's palsy |
What are the treatments for Bell's palsy ? | How might Bell's palsy be treated? | Bell's palsy |
What is (are) Factor V Leiden thrombophilia ? | Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury. People can inherit one or ... | Factor V Leiden thrombophilia |
What are the symptoms of Factor V Leiden thrombophilia ? | What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot. Alth... | Factor V Leiden thrombophilia |
What causes Factor V Leiden thrombophilia ? | What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a ... | Factor V Leiden thrombophilia |
Is Factor V Leiden thrombophilia inherited ? | How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation fro... | Factor V Leiden thrombophilia |
How to diagnose Factor V Leiden thrombophilia ? | How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes th... | Factor V Leiden thrombophilia |
What are the treatments for Factor V Leiden thrombophilia ? | How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants. Anticoagulants such as heparin an... | Factor V Leiden thrombophilia |
What is (are) Mucopolysaccharidosis type I ? | Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzy... | Mucopolysaccharidosis type I |
What are the symptoms of Mucopolysaccharidosis type I ? | What are the signs and symptoms of Mucopolysaccharidosis type I? The signs and symptoms of MPS I are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. The following list includes the most common sign... | Mucopolysaccharidosis type I |
What causes Mucopolysaccharidosis type I ? | What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA... | Mucopolysaccharidosis type I |
Is Mucopolysaccharidosis type I inherited ? | How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern. | Mucopolysaccharidosis type I |
What are the treatments for Mucopolysaccharidosis type I ? | What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Trea... | Mucopolysaccharidosis type I |
What is (are) Nablus mask-like facial syndrome ? | Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pa... | Nablus mask-like facial syndrome |
What are the symptoms of Nablus mask-like facial syndrome ? | What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Nablus mask-like facial syndrome |
What is (are) Syndactyly type 3 ? | Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the... | Syndactyly type 3 |
What are the symptoms of Syndactyly type 3 ? | What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Syndactyly type 3 |
Is Syndactyly type 3 inherited ? | How is syndactyly type 3 inherited? Syndactyly type 3 has been shown to be inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene is sufficient to cause the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in ... | Syndactyly type 3 |
What are the symptoms of Frontofacionasal dysplasia ? | What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Frontofacionasal dysplasia |
What are the symptoms of Glutamine deficiency, congenital ? | What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Glutamine deficiency, congenital |
What are the symptoms of Paris-Trousseau thrombocytopenia ? | What are the signs and symptoms of Paris-Trousseau thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Paris-Trousseau thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Paris-Trousseau thrombocytopenia |
What is (are) Asthma ? | Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by... | Asthma |
What are the symptoms of Asthma ? | What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the defin... | Asthma |
What is (are) Wolman disease ? | Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmen... | Wolman disease |
What are the symptoms of Wolman disease ? | What are the signs and symptoms of Wolman disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Wolman disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | Wolman disease |
What are the treatments for Wolman disease ? | How can I find additional comprehensive information on the treatment of Wolman disease? You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing detai... | Wolman disease |
What are the symptoms of Infantile spasms broad thumbs ? | What are the signs and symptoms of Infantile spasms broad thumbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile spasms broad thumbs. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Infantile spasms broad thumbs |
What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ? | What are the signs and symptoms of Cholestasis, progressive familial intrahepatic 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. If the information is available, the table below includes how often the symptom is seen in people with... | Cholestasis, progressive familial intrahepatic 4 |
What is (are) Eisenmenger syndrome ? | Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blo... | Eisenmenger syndrome |
What are the symptoms of Eisenmenger syndrome ? | What are the signs and symptoms of Eisenmenger syndrome? Symptoms of Eisenmenger include shortness of breath, chest pain, feeling tired or dizzy, fainting, abnormal heart rhythm (arrhythmia), stroke, coughing up blood, swelling of joints from excess uric acid (gout) and, bluish lips, fingers, toes, and skin (cyanosis).... | Eisenmenger syndrome |
What causes Eisenmenger syndrome ? | What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atria... | Eisenmenger syndrome |
What are the treatments for Eisenmenger syndrome ? | How might Eisenmenger syndrome be treated? Older children with symptoms of Eisenmenger syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement). Children may receive oxygen, although it is unclear whether i... | Eisenmenger syndrome |
What is (are) Pseudohypoparathyroidism type 1A ? | Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parat... | Pseudohypoparathyroidism type 1A |
What are the symptoms of Pseudohypoparathyroidism type 1A ? | What are the signs and symptoms of Pseudohypoparathyroidism type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Pseudohypoparathyroidism type 1A |
What is (are) Muscular dystrophy ? | Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the ... | Muscular dystrophy |
What are the symptoms of Bixler Christian Gorlin syndrome ? | What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Bixler Christian Gorlin syndrome |
What is (are) Collagenous colitis ? | Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may ... | Collagenous colitis |
What are the symptoms of Collagenous colitis ? | What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be... | Collagenous colitis |
What are the treatments for Collagenous colitis ? | How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usu... | Collagenous colitis |
What are the symptoms of Spinocerebellar ataxia 40 ? | What are the signs and symptoms of Spinocerebellar ataxia 40? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 40. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | Spinocerebellar ataxia 40 |
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