falan42/medcuad_data huggingface dataset:
Topic: Microcephaly, corpus callosum dysgenesis and cleft lip-palate
Question: What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ?
Answer: What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. 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 - Cleft palate - Cleft upper lip - Hypoplasia of the corpus callosum - Microcephaly - Preaxial hand polydactyly - Proptosis - 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.
(Source: GARD)
Topic: Hypomyelination with atrophy of basal ganglia and cerebellum
Question: What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?
Answer: Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain.  Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.  These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better.  Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum.  H-ABC is is caused by a mutation in the TUBB4A gene.
(Source: GARD)
Topic: Hypomyelination with atrophy of basal ganglia and cerebellum
Question: What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?
Answer: What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - 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.
(Source: GARD)
Topic: Hypomyelination with atrophy of basal ganglia and cerebellum
Question: What causes Hypomyelination with atrophy of basal ganglia and cerebellum ?
Answer: What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.
(Source: GARD)
Topic: Hypomyelination with atrophy of basal ganglia and cerebellum
Question: How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?
Answer: How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain.  When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain.  Myelin usually forms a protective covering around brain cells.  In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.
(Source: GARD)
Topic: Hypomyelination with atrophy of basal ganglia and cerebellum
Question: What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ?
Answer: How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.  Another patient showed improvement in movement symptoms after taking folinic acid supplements.
(Source: GARD)
Topic: Anterior segment mesenchymal dysgenesis
Question: What are the symptoms of Anterior segment mesenchymal dysgenesis ?
Answer: What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. 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) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - 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.
(Source: GARD)
Topic: Chondrodysplasia with joint dislocations, GPAPP type
Question: What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ?
Answer: What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP 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) Autosomal recessive inheritance - Brachydactyly syndrome - Coronal craniosynostosis - Flat face - Genu valgum - Hearing impairment - High forehead - Narrow mouth - Patellar dislocation - Proptosis - Short foot - Short metacarpal - Short nose - Short stature - Short toe - Wide nasal bridge - 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.
(Source: GARD)
Topic: Bartter syndrome antenatal type 1
Question: What are the symptoms of Bartter syndrome antenatal type 1 ?
Answer: What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal 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 recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Hyposthenuria - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Low-to-normal blood pressure - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polyhydramnios - Polyuria - Premature birth - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - 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.
(Source: GARD)
Topic: Minicore myopathy with external ophthalmoplegia
Question: What are the symptoms of Minicore myopathy with external ophthalmoplegia ?
Answer: What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. 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) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - 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.
(Source: GARD)
Topic: Dystonia 5, Dopa-responsive type
Question: What are the symptoms of Dystonia 5, Dopa-responsive type ?
Answer: What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive 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) Autosomal recessive inheritance 5% Autosomal dominant inheritance - Babinski sign - Childhood onset - Gait ataxia - Hyperreflexia - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Postural tremor - Scoliosis - Talipes equinovarus - Torticollis - Transient hyperphenylalaninemia - Writer's cramp - 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.
(Source: GARD)
Topic: Urocanase deficiency
Question: What are the symptoms of Urocanase deficiency ?
Answer: What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase 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) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - 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.
(Source: GARD)
Topic: Single upper central incisor
Question: What are the symptoms of Single upper central incisor ?
Answer: What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - 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.
(Source: GARD)
Topic: Gaucher disease
Question: What is (are) Gaucher disease ?
Answer: Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.
(Source: GARD)