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What are the symptoms of Weyers ulnar ray/oligodactyly syndrome ? | What are the signs and symptoms of Weyers ulnar ray/oligodactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers ulnar ray/oligodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Weyers ulnar ray/oligodactyly syndrome |
What are the symptoms of Thalamic degeneration symmetrical infantile ? | What are the signs and symptoms of Thalamic degeneration symmetrical infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration symmetrical infantile. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Thalamic degeneration symmetrical infantile |
What is (are) L1 syndrome ? | L1 syndrome is a mild to severe congenital disorder with hydrocephalus of varying degrees of severity, intellectual disability, spasticity of the legs, and adducted thumbs. It includes several conditions, some more severe than others: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) - the most sev... | L1 syndrome |
What are the symptoms of L1 syndrome ? | What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 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 look up... | L1 syndrome |
What is (are) Multiple system atrophy ? | Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women pr... | Multiple system atrophy |
What are the symptoms of Multiple system atrophy ? | What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. 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... | Multiple system atrophy |
What are the symptoms of Paroxysmal cold hemoglobinuria ? | What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. 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... | Paroxysmal cold hemoglobinuria |
What is (are) Dent disease 1 ? | Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcino... | Dent disease 1 |
What are the symptoms of Dent disease 1 ? | What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 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 l... | Dent disease 1 |
What is (are) Palmoplantar keratoderma ? | Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. PPK can either be inherited o... | Palmoplantar keratoderma |
What are the treatments for Palmoplantar keratoderma ? | How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. T... | Palmoplantar keratoderma |
What is (are) CDKL5-related disorder ? | A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often ... | CDKL5-related disorder |
What is (are) Perniosis ? | Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occu... | Perniosis |
What is (are) Dicarboxylic aminoaciduria ? | Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion. | Dicarboxylic aminoaciduria |
What are the symptoms of Dicarboxylic aminoaciduria ? | What are the signs and symptoms of Dicarboxylic aminoaciduria? There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases. Others that have been diagnosed had virtually no signs o... | Dicarboxylic aminoaciduria |
What is (are) Lemierre syndrome ? | Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease. The bacterial infection begins in the oropharynx then spreads through the lymphatic ves... | Lemierre syndrome |
What are the symptoms of Lemierre syndrome ? | What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the in... | Lemierre syndrome |
What causes Lemierre syndrome ? | What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes. | Lemierre syndrome |
How to diagnose Lemierre syndrome ? | How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis. | Lemierre syndrome |
What are the treatments for Lemierre syndrome ? | How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of ... | Lemierre syndrome |
What is (are) Pityriasis lichenoides ? | Pityriasis lichenoides is a skin disorder of unknown cause. There are two types of pityriasis lichenoides; a more severe form with a sudden onset that tends to be short-lived (acute) which is usually found in children, known as pityriasis lichenoides et varioliformis acuta and a more mild but long-lasting (chronic) fo... | Pityriasis lichenoides |
What are the treatments for Pityriasis lichenoides ? | What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, ta... | Pityriasis lichenoides |
What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ? | What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. If the information is available, the table bel... | Mental retardation, macrocephaly, short stature and craniofacial dysmorphism |
What is (are) Androgen insensitivity syndrome ? | Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h... | Androgen insensitivity syndrome |
What are the symptoms of Androgen insensitivity syndrome ? | What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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 M... | Androgen insensitivity syndrome |
What is (are) Ascher Syndrome ? | Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inhe... | Ascher Syndrome |
What are the symptoms of Ascher Syndrome ? | What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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... | Ascher Syndrome |
What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ? | What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. If the information is available, the table below includes how often the symptom is seen in people with t... | Ulnar hypoplasia lobster claw deformity of feet |
What is (are) Kernicterus ? | Kernicterus is a rare condition that affects the brain. It refers to a form of brain damage that occurs when neonatal jaundice goes untreated for too long. The severity of the condition and the associated signs and symptoms vary significantly from person to person. People living with kernicterus may experience athetoid... | Kernicterus |
What are the symptoms of Kernicterus ? | What are the signs and symptoms of Kernicterus? The Human Phenotype Ontology provides the following list of signs and symptoms for Kernicterus. 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... | Kernicterus |
What are the symptoms of Neonatal adrenoleukodystrophy ? | What are the signs and symptoms of Neonatal adrenoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal adrenoleukodystrophy. 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... | Neonatal adrenoleukodystrophy |
What is (are) Periventricular heterotopia ? | Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is gener... | Periventricular heterotopia |
What are the symptoms of Periventricular heterotopia ? | What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, ... | Periventricular heterotopia |
How to diagnose Periventricular heterotopia ? | What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823] Imaging exams of the brain to establish the diagnosis Evaluation by a neurologist Evaluation by a doctor specialized in epilepsy if seizures are present Psychiatric ... | Periventricular heterotopia |
What are the treatments for Periventricular heterotopia ? | How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effe... | Periventricular heterotopia |
What are the symptoms of Epidermolysis bullosa simplex, localized ? | What are the signs and symptoms of Epidermolysis bullosa simplex, localized? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, localized. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Epidermolysis bullosa simplex, localized |
What are the symptoms of Verloes Bourguignon syndrome ? | What are the signs and symptoms of Verloes Bourguignon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloes Bourguignon 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... | Verloes Bourguignon syndrome |
What are the symptoms of Synovial chondromatosis, familial with dwarfism ? | What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. If the information is available, the table below includes how often the symptom is seen in people with t... | Synovial chondromatosis, familial with dwarfism |
What is (are) Gordon syndrome ? | Gordon Syndrome is a rare, inherited type of distal arthrogryposis typically characterized by a combination of camptodactyly (a permanent fixation of several fingers in a flexed position), clubfoot (abnormal bending inward of the foot), and less frequently, cleft palate. Intelligence is usually normal. In some cases, a... | Gordon syndrome |
What are the symptoms of Gordon syndrome ? | What are the signs and symptoms of Gordon syndrome? Gordon syndrome belongs to a group of conditions known as the distal arthrogryposes, which are characterized by stiffness and impaired mobility of certain joints of the lower arms and legs including the wrists, elbows, knees and/or ankles. The range and severity of fe... | Gordon syndrome |
Is Gordon syndrome inherited ? | How is Gordon syndrome inherited? While some reports suggest Gordon syndrome may be inherited in an X-linked dominant manner, most agree that it is inherited in an autosomal dominant manner with reduced expressivity and incomplete penetrance in females. In autosomal dominant inheritance, having only one mutated copy of... | Gordon syndrome |
What are the symptoms of Torsion dystonia with onset in infancy ? | What are the signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Torsion dystonia with onset in infancy |
What are the symptoms of Methylmalonic acidemia with homocystinuria ? | What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Methylmalonic acidemia with homocystinuria |
What is (are) Patulous Eustachian Tube ? | Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasio... | Patulous Eustachian Tube |
What are the treatments for Patulous Eustachian Tube ? | How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They ... | Patulous Eustachian Tube |
What are the symptoms of Bardet-Biedl syndrome 12 ? | What are the signs and symptoms of Bardet-Biedl syndrome 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 12. 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... | Bardet-Biedl syndrome 12 |
What is (are) Type 1 plasminogen deficiency ? | Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered ... | Type 1 plasminogen deficiency |
What are the symptoms of Type 1 plasminogen deficiency ? | What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most c... | Type 1 plasminogen deficiency |
What causes Type 1 plasminogen deficiency ? | What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site. | Type 1 plasminogen deficiency |
Is Type 1 plasminogen deficiency inherited ? | Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms. | Type 1 plasminogen deficiency |
What are the treatments for Type 1 plasminogen deficiency ? | How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. R... | Type 1 plasminogen deficiency |
What are the symptoms of Lipodystrophy, familial partial, type 2 ? | What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | Lipodystrophy, familial partial, type 2 |
What is (are) D-2-alpha hydroxyglutaric aciduria ? | D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such ... | D-2-alpha hydroxyglutaric aciduria |
What are the symptoms of D-2-alpha hydroxyglutaric aciduria ? | What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | D-2-alpha hydroxyglutaric aciduria |
What are the symptoms of Brugada syndrome 4 ? | What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. 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 Diction... | Brugada syndrome 4 |
What is (are) VACTERL association ? | VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart... | VACTERL association |
What are the symptoms of VACTERL association ? | What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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 Dicti... | VACTERL association |
What causes VACTERL association ? | Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 ge... | VACTERL association |
How to diagnose VACTERL association ? | Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testin... | VACTERL association |
What is (are) Chiari malformation ? | Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospina... | Chiari malformation |
What are the symptoms of Chiari malformation ? | What are the signs and symptoms of Chiari malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation. 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 Dicti... | Chiari malformation |
What are the symptoms of Charcot-Marie-Tooth disease type 2B1 ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B1? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Charcot-Marie-Tooth disease type 2B1 |
What is (are) Alagille syndrome ? | Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton. Symptoms, including jaundice, pale, loose stools, an... | Alagille syndrome |
What are the symptoms of Alagille syndrome ? | What are the signs and symptoms of Alagille syndrome? Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms ... | Alagille syndrome |
What are the symptoms of Purpura simplex ? | What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. 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... | Purpura simplex |
What are the symptoms of Kuster Majewski Hammerstein syndrome ? | What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Kuster Majewski Hammerstein syndrome |
What are the symptoms of Renal tubular acidosis, distal, type 3 ? | What are the signs and symptoms of Renal tubular acidosis, distal, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Renal tubular acidosis, distal, type 3 |
What are the symptoms of Bartter syndrome antenatal type 2 ? | What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Bartter syndrome antenatal type 2 |
What are the symptoms of Sonoda syndrome ? | What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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... | Sonoda syndrome |
What are the symptoms of Penoscrotal transposition ? | What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. 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... | Penoscrotal transposition |
What is (are) Kluver Bucy syndrome ? | Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, include a diminished ability to visually recognize objects, loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associa... | Kluver Bucy syndrome |
What is (are) Trichorhinophalangeal syndrome type 1 ? | Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condi... | Trichorhinophalangeal syndrome type 1 |
What are the symptoms of Trichorhinophalangeal syndrome type 1 ? | What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Trichorhinophalangeal syndrome type 1 |
What is (are) Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome is a genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for storage. Symptoms of Rabson-Mendenhall syndrome... | Rabson-Mendenhall syndrome |
What are the symptoms of Rabson-Mendenhall syndrome ? | What are the signs and symptoms of Rabson-Mendenhall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rabson-Mendenhall 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... | Rabson-Mendenhall syndrome |
What are the symptoms of Anal sphincter dysplasia ? | What are the signs and symptoms of Anal sphincter dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anal sphincter 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 Med... | Anal sphincter dysplasia |
What is (are) LCHAD deficiency ? | LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding diffic... | LCHAD deficiency |
What are the symptoms of LCHAD deficiency ? | What are the signs and symptoms of LCHAD deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for LCHAD deficiency. 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 ... | LCHAD deficiency |
What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ? | What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. If the information is available, the table below includes how often the symptom is seen in people wi... | Duodenal ulcer due to antral G-cell hyperfunction |
What is (are) Tyrosinemia type 1 ? | Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme... | Tyrosinemia type 1 |
What are the symptoms of Tyrosinemia type 1 ? | What are the signs and symptoms of Tyrosinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia type 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 Diction... | Tyrosinemia type 1 |
What are the treatments for Tyrosinemia type 1 ? | How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnos... | Tyrosinemia type 1 |
What is (are) Limb-girdle muscular dystrophy type 2A ? | Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused... | Limb-girdle muscular dystrophy type 2A |
What are the symptoms of Limb-girdle muscular dystrophy type 2A ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Limb-girdle muscular dystrophy type 2A |
What is (are) 46,XX testicular disorder of sex development ? | 46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small tes... | 46,XX testicular disorder of sex development |
What are the symptoms of 46,XX testicular disorder of sex development ? | What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. If the information is available, the table below includes how often the symptom is seen in people with this co... | 46,XX testicular disorder of sex development |
What is (are) Dystonia 8 ? | Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no k... | Dystonia 8 |
What are the symptoms of Dystonia 8 ? | What are the signs and symptoms of Dystonia 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 8. 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 t... | Dystonia 8 |
What causes Dystonia 8 ? | Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions out... | Dystonia 8 |
What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ? | What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. If the information is available, the table... | Mastocytosis cutaneous with short stature conductive hearing loss and microtia |
What is (are) Anophthalmia plus syndrome ? | Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may inc... | Anophthalmia plus syndrome |
What are the symptoms of Anophthalmia plus syndrome ? | What are the signs and symptoms of Anophthalmia plus syndrome? Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, ... | Anophthalmia plus syndrome |
How to diagnose Anophthalmia plus syndrome ? | How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with o... | Anophthalmia plus syndrome |
What are the symptoms of Cornea guttata with anterior polar cataract ? | What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Cornea guttata with anterior polar cataract |
What are the symptoms of Tremors, nystagmus and duodenal ulcers ? | What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Tremors, nystagmus and duodenal ulcers |
What are the symptoms of Coenzyme Q10 deficiency ? | What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. 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... | Coenzyme Q10 deficiency |
What is (are) Hemangioma thrombocytopenia syndrome ? | Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumo... | Hemangioma thrombocytopenia syndrome |
What are the symptoms of Hemangioma thrombocytopenia syndrome ? | What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Hemangioma thrombocytopenia syndrome |
What are the symptoms of Mitochondrial trifunctional protein deficiency ? | What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. If the information is available, the table below includes how often the symptom is seen in people with thi... | Mitochondrial trifunctional protein deficiency |
What is (are) 2,4-Dienoyl-CoA reductase deficiency ? | 2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. | 2,4-Dienoyl-CoA reductase deficiency |
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