Input: What causes Erythropoietic protoporphyria ?

Output: What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. </s>


Input: Is Erythropoietic protoporphyria inherited ?

Output: How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% (1 in 4) chance to be unaffected and not be a carrier </s>


Input: What is (are) Fine-Lubinsky syndrome ?

Output: Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner. </s>


Input: What are the symptoms of Fine-Lubinsky syndrome ?

Output: What are the signs and symptoms of Fine-Lubinsky syndrome? The signs and symptoms known to occur in people with Fine-Lubinsky syndrome (FLS) are based on reports of the few people who have been diagnosed and described in the medical literature. Numerous features have been reported and many of them vary among affected people. The key signs for diagnosis may include: non-synostotic brachycephaly or plagiocephaly (a deformity of the skull that is not due to bone fusion) structural brain anomalies abnormal electroencephalogram (EEG) intellectual disability deafness ocular (eye) abnormalities (cataracts or glaucoma) distinctive facial features (including a high/wide forehead; shallow eye orbits; a flat/round face; low-set, posteriorly-rotated ears; and an abnormally small mouth) body asymmetry, which may be present at birth (congenital) The Human Phenotype Ontology provides the following list of signs and symptoms for Fine-Lubinsky 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Camptodactyly of finger 90% Cognitive impairment 90% Malar flattening 90% Muscular hypotonia 90% Plagiocephaly 90% Rocker bottom foot 90% Scoliosis 90% Sensorineural hearing impairment 90% Short stature 90% Tapered finger 90% Abnormality of the fingernails 50% Aplasia/Hypoplasia of the corpus callosum 50% Asymmetry of the thorax 50% Atresia of the external auditory canal 50% Brachydactyly syndrome 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Depressed nasal bridge 50% Facial asymmetry 50% Glaucoma 50% High forehead 50% Hypertelorism 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Pectus excavatum 50% Seizures 50% Short nose 50% Short toe 50% Thin vermilion border 50% Ventriculomegaly 50% Finger syndactyly 7.5% Visual impairment 7.5% Hypoplasia of the corpus callosum 5% Long eyelashes 5% Megalocornea 5% Microtia 5% Shawl scrotum 5% Absent axillary hair - Brachycephaly - Breast hypoplasia - Camptodactyly - Cerebral atrophy - Flat face - Growth delay - Hearing impairment - Intellectual disability - Low-set ears - Pectus excavatum of inferior sternum - Posteriorly rotated ears - Scrotal hypoplasia - Shallow orbits - Sporadic - Superior pectus carinatum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Fine-Lubinsky syndrome ?

Output: What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out. </s>


Input: Is Fine-Lubinsky syndrome inherited ?

Output: How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS. </s>


Input: How to diagnose Fine-Lubinsky syndrome ?

Output: How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry. </s>


Input: What are the symptoms of Keratosis palmoplantaris striata 1 ?

Output: What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Macrocephaly mesodermal hamartoma spectrum ?

Output: What are the signs and symptoms of Macrocephaly mesodermal hamartoma spectrum? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly mesodermal hamartoma spectrum. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Arteriovenous malformation 90% Asymmetry of the thorax 90% Decreased body weight 90% Irregular hyperpigmentation 90% Kyphosis 90% Lower limb asymmetry 90% Lymphangioma 90% Macrodactyly of finger 90% Melanocytic nevus 90% Multiple lipomas 90% Scoliosis 90% Skeletal dysplasia 90% Skeletal muscle atrophy 90% Tall stature 90% Bronchogenic cyst 50% Cafe-au-lait spot 50% Dolichocephaly 50% Finger syndactyly 50% Hyperkeratosis 50% Hypertelorism 50% Lymphedema 50% Macrocephaly 50% Pulmonary embolism 50% Visceral angiomatosis 50% Abnormality of dental enamel 7.5% Abnormality of immune system physiology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the hip bone 7.5% Abnormality of the nail 7.5% Abnormality of the neck 7.5% Abnormality of the wrist 7.5% Anteverted nares 7.5% Arterial thrombosis 7.5% Atresia of the external auditory canal 7.5% Buphthalmos 7.5% Carious teeth 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conjunctival hamartoma 7.5% Craniosynostosis 7.5% Depressed nasal bridge 7.5% Exostoses 7.5% Generalized hyperpigmentation 7.5% Hallux valgus 7.5% Heterochromia iridis 7.5% Hypertrichosis 7.5% Limitation of joint mobility 7.5% Long face 7.5% Long penis 7.5% Low-set, posteriorly rotated ears 7.5% Macroorchidism 7.5% Meningioma 7.5% Myopathy 7.5% Myopia 7.5% Neoplasm of the lung 7.5% Neoplasm of the thymus 7.5% Ovarian neoplasm 7.5% Polycystic ovaries 7.5% Proptosis 7.5% Ptosis 7.5% Reduced number of teeth 7.5% Renal cyst 7.5% Retinal detachment 7.5% Retinal hamartoma 7.5% Seizures 7.5% Sirenomelia 7.5% Splenomegaly 7.5% Strabismus 7.5% Sudden cardiac death 7.5% Talipes 7.5% Testicular neoplasm 7.5% Thymus hyperplasia 7.5% Calvarial hyperostosis - Deep venous thrombosis - Depigmentation/hyperpigmentation of skin - Epibulbar dermoid - Facial hyperostosis - Hemangioma - Hemihypertrophy - Hypertrophy of skin of soles - Intellectual disability, moderate - Kyphoscoliosis - Lipoma - Mandibular hyperostosis - Nevus - Open mouth - Spinal canal stenosis - Spinal cord compression - Sporadic - Thin bony cortex - Venous malformation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Hypoaldosteronism ?

Output: Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects. </s>


Input: What are the treatments for Hypoaldosteronism ?

Output: How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals with hypoaldosteronism and a deficiency of adrenal glucocorticoid hormones are usually given fludrocortisone. People with hyporeninemic hypoaldosteronism are frequently given furosemide to correct hyperkalemia. </s>


Input: What is (are) LCHAD deficiency ?

Output: 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 difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM] </s>


Input: What are the symptoms of LCHAD deficiency ?

Output: 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 to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cardiomyopathy - Hepatomegaly - Hypoglycemia - Long chain 3 hydroxyacyl coA dehydrogenase deficiency - Muscular hypotonia - Pigmentary retinopathy - Sudden death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Acromesomelic dysplasia Hunter Thompson type ?

Output: What are the signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson type. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ankles 90% Brachydactyly syndrome 90% Elbow dislocation 90% Micromelia 90% Neurological speech impairment 90% Short stature 90% Single transverse palmar crease 90% Tarsal synostosis 90% Abnormality of the hip bone 50% Abnormality of the wrist 50% Cognitive impairment 50% Limitation of joint mobility 50% Patellar dislocation 50% Scoliosis 50% Abnormally shaped carpal bones - Acromesomelia - Autosomal recessive inheritance - Cuboidal metacarpal - Distal femoral bowing - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Radial bowing - Severe short-limb dwarfism - Short foot - Short thumb - Short tibia - Shortening of all middle phalanges of the fingers - Shortening of all proximal phalanges of the fingers - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Phosphoglycerate kinase deficiency ?

Output: What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase 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 to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7.5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Myelofibrosis ?

Output: Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery. </s>


Input: What are the symptoms of Myelofibrosis ?

Output: What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Myelofibrosis - Myeloproliferative disorder - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) 22q13.3 deletion syndrome ?

Output: 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a chromosome abnormality caused by the loss (deletion) of a small piece of chromosome 22. The deletion occurs near the end of the long arm (or q arm) at a location designated as q13.3. The signs and symptoms of this condition vary widely from person to person. Common symptoms include low muscle tone (hypotonia), intellectual disability, delayed or absent speech, abnormal growth, tendency to overheat, large hands, and abnormal toenails. Affected individuals may have characteristic behaviors, such as mouthing or chewing on non-food items, decreased perception of pain, and autistic-like behaviors. The loss of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the signs and symptoms of 22q13.3 deletion syndrome. Additional genes within the deleted region probably contribute to the variable features of the syndrome. </s>


Input: What are the symptoms of 22q13.3 deletion syndrome ?

Output: What are the signs and symptoms of 22q13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 22q13.3 deletion 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Accelerated skeletal maturation 90% Delayed speech and language development 90% Hypoplastic toenails 90% Impaired pain sensation 90% Large hands 90% Muscular hypotonia 90% Neonatal hypotonia 90% Neurological speech impairment 90% Tall stature 90% Autism 75% Bruxism 75% Hyperorality 75% Long eyelashes 75% Poor eye contact 75% Abnormal nasal morphology 50% Abnormality of immune system physiology 50% Behavioral abnormality 50% Broad-based gait 50% Bulbous nose 50% Deeply set eye 50% Dolichocephaly 50% Full cheeks 50% Heat intolerance 50% Hypohidrosis 50% Macrotia 50% Malar flattening 50% Palpebral edema 50% Pointed chin 50% Ptosis 50% Sacral dimple 50% Thick eyebrow 50% Unsteady gait 50% Wide nasal bridge 50% 2-3 toe syndactyly 33% Clinodactyly of the 5th finger 33% Dental malocclusion 33% Epicanthus 33% Episodic vomiting 33% Gastroesophageal reflux 33% High palate 33% Long philtrum 33% Lymphedema 33% Seizures 33% Strabismus 33% Aggressive behavior 25% Hearing impairment 20% Arachnoid cyst 15% Tongue thrusting 15% Cellulitis 10% Abnormality of the periventricular white matter 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Delayed CNS myelination 7.5% Macrocephaly 7.5% Obesity 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Cortical visual impairment 6% Microcephaly 1% Concave nasal ridge - Feeding difficulties - Generalized hypotonia - Hyporeflexia - Intellectual disability, moderate - Motor delay - Prominent supraorbital ridges - Protruding ear - Short chin - Sporadic - Toenail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Cluttering ?

Output: Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech. </s>


Input: What is (are) Combined malonic and methylmalonic aciduria ?

Output: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic Alzheimer's disease and multiple sclerosis. Recently, researchers have found that mutations in the ACSF3 gene cause CMAMMA. </s>


Input: What are the symptoms of Combined malonic and methylmalonic aciduria ?

Output: What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Generalized clonic seizures - Ketoacidosis - Methylmalonic aciduria - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Pontocerebellar hypoplasia type 5 ?

Output: What are the signs and symptoms of Pontocerebellar hypoplasia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 5. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Microcephaly - Olivopontocerebellar hypoplasia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Retinal cone dystrophy 4 ?

Output: What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Pyomyositis ?

Output: Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the bacterium, Staphylococcus aureus. Risk factors for the condition include strenuous activity, muscle trauma, skin infections, infected insect bites, illicit drug injections, connective tissue disorders, and diabetes. Treatment generally includes surgical drainage of the abscess and antibiotics. </s>


Input: What are the symptoms of Pyomyositis ?

Output: What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of temperature regulation 90% Myalgia 90% Myositis 90% Recurrent cutaneous abscess formation 90% Leukocytosis 50% Weight loss 50% Renal insufficiency 7.5% Sepsis 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Lattice corneal dystrophy type 1 ?

Output: Lattice corneal dystrophy is a type of stromal dystrophy. It is characterized by the build up of protein fibers (i.e., amyloid) in the stroma.  Symptoms may include corneal erosions, decreased vision, photosensitivity, and eye pain. Most cases of lattice dystrophy are caused by mutations in the TGFBI gene. </s>


Input: What are the symptoms of Lattice corneal dystrophy type 1 ?

Output: What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy 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 Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Mowat-Wilson syndrome ?

Output: Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person. </s>


Input: What are the symptoms of Mowat-Wilson syndrome ?

Output: What are the signs and symptoms of Mowat-Wilson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mowat-Wilson 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 100% Abnormality of the eyebrow 90% Cognitive impairment 90% Deeply set eye 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Large earlobe 90% Microcephaly 90% Seizures 90% Aganglionic megacolon 62% Aplasia/Hypoplasia of the corpus callosum 50% Broad columella 50% Constipation 50% Cryptorchidism 50% Cupped ear 50% Displacement of the external urethral meatus 50% Epicanthus 50% Esotropia 50% Fine hair 50% Hypertelorism 50% Iris coloboma 50% Low hanging columella 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Open mouth 50% Pointed chin 50% Prominent nasal tip 50% Ptosis 50% Short stature 50% Tapered finger 50% Uplifted earlobe 50% Wide nasal bridge 50% Agenesis of corpus callosum 42% Bifid scrotum 33% Generalized muscle hypertrophy 33% Hypospadias 33% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Camptodactyly of finger 7.5% Cerebral cortical atrophy 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Deep plantar creases 7.5% Finger syndactyly 7.5% Hallux valgus 7.5% Nystagmus 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Strabismus 7.5% Submucous cleft hard palate 7.5% Supernumerary nipple 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Abdominal distention - Abnormality of metabolism/homeostasis - Abnormality of the abdominal wall - Abnormality of the rib cage - Absent speech - Atria septal defect - Autosomal dominant inheritance - Broad eyebrow - Delayed eruption of teeth - Drooling - Happy demeanor - Hypoplasia of the corpus callosum - Intellectual disability, moderate - Motor delay - Pectus carinatum - Pectus excavatum - Pulmonary artery sling - Pulmonary artery stenosis - Pulmonic stenosis - Vomiting - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Mowat-Wilson syndrome ?

Output: What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome. </s>


Input: Is Mowat-Wilson syndrome inherited ?

Output: How is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. </s>


Input: What is (are) Neuroblastoma ?

Output: Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5.  It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body.  It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).  The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell.  It affects one out of 100,000 children.  The exact cause of this tumor is not yet known.  Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy.  Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases. </s>


Input: What are the symptoms of Neuroblastoma ?

Output: What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neoplasm of the nervous system 90% Abdominal pain - Abnormality of the thorax - Anemia - Ataxia - Autosomal dominant inheritance - Bone pain - Diarrhea - Elevated urinary dopamine - Elevated urinary homovanillic acid - Elevated urinary vanillylmandelic acid - Failure to thrive - Fever - Ganglioneuroblastoma - Ganglioneuroma - Heterogeneous - Horner syndrome - Hypertension - Incomplete penetrance - Myoclonus - Neuroblastoma - Opsoclonus - Skin nodule - Spinal cord compression - Sporadic - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of SeSAME syndrome ?

Output: What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Congenital disorders of glycosylation ?

Output: Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential. </s>


Input: What are the symptoms of Congenital disorders of glycosylation ?

Output: What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of coagulation 90% Abnormality of immune system physiology 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Aplasia/Hypoplasia of the nipples 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Elevated hepatic transaminases 90% Strabismus 90% Abnormality of the genital system 50% Abnormality of the pericardium 50% Broad forehead 50% Hypertrophic cardiomyopathy 50% Hypoglycemia 50% Seizures 50% Abnormality of the intestine 7.5% Ascites 7.5% Nephropathy 7.5% Peripheral neuropathy 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Usher syndrome, type 1E ?

Output: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. </s>


Input: What are the symptoms of Usher syndrome, type 1E ?

Output: What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular areflexia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: Is Usher syndrome, type 1E inherited ?

Output: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. </s>


Input: What is (are) Microcystic adnexal carcinoma ?

Output: Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well.  The average age of diagnosis is 56.  This tumor is often first noticed as a bump or yellowish spot in the skin.  Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery. </s>


Input: What are the symptoms of Microcystic adnexal carcinoma ?

Output: What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin.  It may be flesh-colored or yellowish, and it increases in size over time.  A microcystic adnexal carcinoma may grow into nerves nearby, which can cause discomfort, numbness, tingling (paresthesia), burning, or itching. </s>


Input: What are the treatments for Microcystic adnexal carcinoma ?

Output: Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease.  There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective.  Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done.  However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor. </s>


Input: What are the symptoms of Cataract congenital Volkmann type ?

Output: What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ?

Output: What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypertension 5% Aplasia/Hypoplasia involving the central nervous system - Ataxia - Autosomal recessive inheritance - Brain atrophy - Broad-based gait - Cutis marmorata - Dementia - Dysarthria - Emotional lability - Hemianopia - Migraine - Pseudobulbar signs - Seizures - Telangiectases producing 'marbled' skin - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ?

Output: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Genu valgum, st Helena familial ?

Output: What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Genu valgum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Sprengel deformity ?

Output: Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function. </s>


Input: What are the symptoms of Sprengel deformity ?

Output: What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it. Other features that have been found in association with Sprengel deformity include: scoliosis Klippel Feil syndrome limb length discrepancy an underdeveloped backbone (hemivertebrae) missing, fused, or extra ribs (cervical ribs) abnormalities of the collarbone abnormalities of the chest organs of the body displaced on the opposite side (ex: liver on the left and heart on the right) spina bifida occulta cleft palate The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Sprengel anomaly 90% Cleft palate 7.5% Autosomal dominant inheritance - Cervical segmentation defect - Hemivertebrae - Neck muscle hypoplasia - Rib segmentation abnormalities - Scoliosis - Shoulder muscle hypoplasia - Spina bifida occulta - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the treatments for Sprengel deformity ?

Output: How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered. </s>


Input: What are the symptoms of Congenital intrauterine infection-like syndrome ?

Output: What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Robinow Sorauf syndrome ?

Output: What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Olivopontocerebellar atrophy ?

Output: Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications. </s>


Input: Is Olivopontocerebellar atrophy inherited ?

Output: Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is inherited in an autosomal dominant manner. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance.   Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA). People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired. </s>


Input: How to diagnose Olivopontocerebellar atrophy ?

Output: How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset). Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out. </s>


Input: What are the symptoms of Hair defect with photosensitivity and mental retardation ?

Output: What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Coarse hair 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Fine hair 90% Pili torti 90% Abnormality of immune system physiology 50% Autosomal recessive inheritance - Brittle hair - Intellectual disability - Sparse eyebrow - Sparse eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Aceruloplasminemia ?

Output: Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion. </s>


Input: What are the symptoms of Aceruloplasminemia ?

Output: What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of iron homeostasis 90% Anemia 90% Chorea 90% Diabetes mellitus 90% Retinopathy 90% Tremor 90% Behavioral abnormality 50% Developmental regression 50% Hypertonia 50% Incoordination 50% Neurological speech impairment 50% Congestive heart failure 7.5% Hypothyroidism 7.5% Memory impairment 7.5% Abnormality of extrapyramidal motor function - Adult onset - Ataxia - Autosomal recessive inheritance - Blepharospasm - Cogwheel rigidity - Dementia - Dysarthria - Increased serum ferritin - Retinal degeneration - Scanning speech - Torticollis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: How to diagnose Aceruloplasminemia ?

Output: How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity. Genetic testing is available on a research basis. </s>


Input: What are the symptoms of Congenital rubella ?

Output: What are the signs and symptoms of Congenital rubella? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital rubella. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Intrauterine growth retardation 90% Neurological speech impairment 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the pulmonary artery 50% Anemia 50% Aplasia/Hypoplasia of the iris 50% Atria septal defect 50% Cognitive impairment 50% Glaucoma 50% Hepatomegaly 50% Hypertonia 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Patent ductus arteriosus 50% Short stature 50% Skin rash 50% Splenomegaly 50% Strabismus 50% Thrombocytopenia 50% Ventricular septal defect 50% Visual impairment 50% Abnormality of the metaphyses 7.5% Opacification of the corneal stroma 7.5% Seizures 7.5% Type I diabetes mellitus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Hypopituitarism ?

Output: Hypopituitarism occurs when the body has low levels of certain hormones made by the pituitary gland.  The pituitary gland normally makes several hormones (including growth hormone, thyroid stimulating hormone, adrenocorticotropic hormone, prolactin, follicle stimulating hormone and luteinizing hormone, vasopressin, and oxytocin).  These hormones are important for directing body growth and development, and for regulating blood pressure and metabolism.  Symptoms of this condition vary and depend on which hormones are affected.  Treatment depends on the cause of this condition; once the cause is corrected, medication (hormone replacement therapy) must be taken to provide the body with the normal amount of hormones. </s>


Input: What are the symptoms of Camptodactyly taurinuria ?

Output: What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Increased urinary taurine - Knee dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of 5q- syndrome ?

Output: What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of cells of the megakaryocyte lineage - Autosomal dominant contiguous gene syndrome - Erythroid hypoplasia - Myelodysplasia - Refractory macrocytic anemia - Somatic mutation - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Taurodontia absent teeth sparse hair ?

Output: What are the signs and symptoms of Taurodontia absent teeth sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Taurodontia absent teeth sparse hair. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Reduced number of teeth 90% Taurodontia 90% Abnormality of the fingernails 50% Broad alveolar ridges 50% Hypoplastic toenails 50% Autosomal recessive inheritance - Oligodontia - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Tetramelic monodactyly ?

Output: What are the signs and symptoms of Tetramelic monodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetramelic monodactyly. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Split hand 90% Autosomal dominant inheritance - Monodactyly (feet) - Monodactyly (hands) - Split foot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Aicardi-Goutieres syndrome type 2 ?

Output: Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. </s>


Input: What are the symptoms of Aicardi-Goutieres syndrome type 2 ?

Output: What are the signs and symptoms of Aicardi-Goutieres syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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 the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dystonia 5% Microcephaly 5% Spastic paraplegia 5% Autosomal recessive inheritance - Basal ganglia calcification - Cerebral atrophy - Chronic CSF lymphocytosis - Encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) CHOPS syndrome ?

Output: CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. </s>


Input: What are the symptoms of CHOPS syndrome ?

Output: What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS 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 the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Rheumatoid nodulosis ?

Output: What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Subcutaneous nodule - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Abetalipoproteinemia ?

Output: Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa. Most of the symptoms are due to defects in the absorption and transport of vitamin E. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death. </s>


Input: What are the symptoms of Abetalipoproteinemia ?

Output: What are the signs and symptoms of Abetalipoproteinemia? The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acanthocytosis) nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life The Human Phenotype Ontology provides the following list of signs and symptoms for Abetalipoproteinemia. 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 definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Malabsorption 90% Abnormality of movement 50% Abnormality of retinal pigmentation 50% Incoordination 50% Muscular hypotonia 50% Visual impairment 7.5% Abetalipoproteinemia - Acanthocytosis - Ataxia - Autosomal recessive inheritance - CNS demyelination - Fat malabsorption - Peripheral demyelination - Pigmentary retinal degeneration - Retinopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Abetalipoproteinemia ?

Output: What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people. </s>