falan42/medcuad_data huggingface dataset:
Topic: Summitt syndrome
Question: What are the symptoms of Summitt syndrome ?
Answer: What are the signs and symptoms of Summitt syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Summitt 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) Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Epicanthus 90% Finger syndactyly 90% Genu valgum 90% Hypertelorism 90% Macrocephaly 90% Narrow face 90% Obesity 90% Plagiocephaly 90% Prominent metopic ridge 90% Tall stature 90% Abnormality of the metacarpal bones 50% Depressed nasal ridge 50% Strabismus 50% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Hypoplasia of penis 7.5% Low-set, posteriorly rotated ears 7.5% Autosomal recessive inheritance - Oxycephaly - Syndactyly - 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: Fucosidosis type 1
Question: What are the symptoms of Fucosidosis type 1 ?
Answer: What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis 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) Coarse facial features 90% Cognitive impairment 90% Frontal bossing 90% Hearing impairment 90% Hepatomegaly 90% Hyperhidrosis 90% Hyperkeratosis 90% Hypothyroidism 90% Kyphosis 90% Lipoatrophy 90% Mucopolysacchariduria 90% Skeletal dysplasia 90% Abnormality of the gallbladder 50% Hemiplegia/hemiparesis 50% Hypertonia 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Seizures 50% Skeletal muscle atrophy 50% Splenomegaly 50% Abnormal pyramidal signs 7.5% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Acrocyanosis 7.5% Cardiomegaly 7.5% Abnormality of the abdominal wall - Absent/hypoplastic coccyx - Absent/hypoplastic paranasal sinuses - Angiokeratoma - Anhidrosis - Anterior beaking of lumbar vertebrae - Anterior beaking of thoracic vertebrae - Autosomal recessive inheritance - Barrel-shaped chest - Cerebral atrophy - Cervical platyspondyly - Coxa valga - Dry skin - Dysostosis multiplex - Elevated sweat chloride - Flexion contracture - Hernia - Hypertelorism - Intellectual disability - Lumbar hyperlordosis - Macroglossia - Oligosacchariduria - Polyneuropathy - Prominent forehead - Scoliosis - Shield chest - Short stature - Spastic tetraplegia - Thick eyebrow - Thick lower lip vermilion - Tortuosity of conjunctival vessels - Vacuolated lymphocytes - Wide nose - 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: Richieri Costa Da Silva syndrome
Question: What are the symptoms of Richieri Costa Da Silva syndrome ?
Answer: What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva 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) Absent tibia - Autosomal 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.
(Source: GARD)
Topic: Nonbullous congenital ichthyosiform erythroderma
Question: What is (are) Nonbullous congenital ichthyosiform erythroderma ?
Answer: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.
(Source: GARD)
Topic: Nonbullous congenital ichthyosiform erythroderma
Question: What are the symptoms of Nonbullous congenital ichthyosiform erythroderma ?
Answer: What are the signs and symptoms of Nonbullous congenital ichthyosiform erythroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nonbullous congenital ichthyosiform erythroderma. 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) Hypohidrosis 90% Ectropion 5% Short finger 5% Short toe 5% Small nail 5% Thin nail 5% Abnormality of the hair - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Congenital nonbullous ichthyosiform erythroderma - External genital hypoplasia - Growth delay - Intellectual disability - Palmoplantar keratoderma - Paralysis - 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: Nonbullous congenital ichthyosiform erythroderma
Question: What are the treatments for Nonbullous congenital ichthyosiform erythroderma ?
Answer: How might nonbullous congenital ichthyosiform erythroderma be treated? There is currently no cure for nonbullous congenital ichthyosiform erythroderma (NBCIE). Treatment generally focuses on managing the specific signs and symptoms each individual has. For newborns, the most important goals are to provide a moist environment in an isolette, and to prevent and treat infections. Petrolatum-based creams and ointments are typically used to keep the skin soft and hydrated. As children age, keratolytic agents (agents that help the skin loosen and shed) such as alpha-hydroxy acid or urea preparations can be used to promote the peeling and thinning of the outer layer of the skin. For individuals with severe skin involvement, oral retinoid therapy may be recommended. However, because this is known to cause abnormalities in a developing fetus, it should be used with caution in women of child-bearing age. In general, any agents that irritate the skin should be avoided. Ectropion (turning out of the eyelid) can cause dryness of the cornea (especially at night), so artificial tears or prescription ointments may be used to keep the cornea moist. ClinicalTrials.gov provides access to information on clinical studies (including therapies) for different types of ichthyosis. To view a list of the studies currently listed, click here.
(Source: GARD)
Topic: Fanconi Bickel syndrome
Question: What is (are) Fanconi Bickel syndrome ?
Answer: Fanconi Bickel syndrome (FBS) is a rare glycogen storage disease characterized by glycogen accumulation in the liver and kidneys; severe renal tubular dysfunction; and impaired glucose and galactose metabolism. Signs and symptoms begin in the first few months of life and include failure to thrive, excessive urination (polyuria) and rickets, followed by short stature and hepatosplenomegaly in early childhood. Puberty is delayed. FBS is inherited in an autosomal recessive manner and is caused by mutations in the SLC2A2 gene. Treatment is generally symptomatic.
(Source: GARD)
Topic: Fanconi Bickel syndrome
Question: What are the symptoms of Fanconi Bickel syndrome ?
Answer: What are the signs and symptoms of Fanconi Bickel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi Bickel 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) Abdominal distention - Autosomal recessive inheritance - Chronic acidosis - Decreased subcutaneous fat - Elevated alkaline phosphatase - Failure to thrive - Generalized aminoaciduria - Glycosuria - Hyperphosphaturia - Hypokalemia - Hypophosphatemia - Hypouricemia - Impairment of galactose metabolism - Malabsorption - Osteomalacia - Poor appetite - Renal tubular dysfunction - 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: Fanconi Bickel syndrome
Question: What are the treatments for Fanconi Bickel syndrome ?
Answer: How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.
(Source: GARD)
Topic: Juvenile primary lateral sclerosis
Question: What is (are) Juvenile primary lateral sclerosis ?
Answer: Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.
(Source: GARD)
Topic: Juvenile primary lateral sclerosis
Question: What are the symptoms of Juvenile primary lateral sclerosis ?
Answer: What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 15 to 20 years. Early symptoms include clumsiness, muscle spasms, weakness and stiffness in the legs, and difficulty with balance. As symptoms progress, they include weakness and stiffness in the arms and hands, slurred speech, drooling, difficulty swallowing, and an inability to walk. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile primary lateral sclerosis. 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 pyramidal signs 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Muscle weakness 90% Pseudobulbar signs 90% Feeding difficulties in infancy 50% Neurological speech impairment 50% Abnormality of the urinary system 7.5% Skeletal muscle atrophy 7.5% Abnormal upper motor neuron morphology - Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Childhood onset - Difficulty in tongue movements - Dysphagia - Juvenile onset - Pseudobulbar behavioral symptoms - Saccadic smooth pursuit - Slow progression - Spastic dysarthria - Spastic gait - Spastic tetraparesis - Spasticity of facial muscles - Spasticity of pharyngeal muscles - 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: Juvenile primary lateral sclerosis
Question: What causes Juvenile primary lateral sclerosis ?
Answer: What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis.
(Source: GARD)
Topic: Juvenile primary lateral sclerosis
Question: Is Juvenile primary lateral sclerosis inherited ?
Answer: How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
(Source: GARD)
Topic: Trichorhinophalangeal syndrome type 3
Question: What is (are) Trichorhinophalangeal syndrome type 3 ?
Answer: Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). The range and severity of symptoms may vary from case to case. TRPS3 is caused by mutations in the TRPS1 gene which is localized to 8q24.12. TRPS3 is inherited in an autosomal dominant manner.
(Source: GARD)
Topic: Trichorhinophalangeal syndrome type 3
Question: What are the symptoms of Trichorhinophalangeal syndrome type 3 ?
Answer: What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormality of the nervous system - Accelerated bone age after puberty - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Cone-shaped epiphyses of the middle phalanges of the hand - Coxa magna - Delayed skeletal maturation - Dental crowding - Osteopenia - Pear-shaped nose - Protruding ear - Short finger - Short foot - Short metacarpal - Short metatarsal - Short palm - Short phalanx of finger - Smooth philtrum - Sparse hair - Sparse lateral eyebrow - Underdeveloped nasal alae - 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: Infantile myofibromatosis
Question: What are the symptoms of Infantile myofibromatosis ?
Answer: What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. 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 metaphyses 90% Abnormality of the musculature 90% Bone cyst 90% Neoplasm of the skeletal system 90% Sarcoma 90% Abnormality of the skull 50% Abnormality of the thorax 50% Chondrocalcinosis 50% Gingival overgrowth 50% Neoplasm of the lung 50% Abnormality of the eye 7.5% Abnormality of the kidney 7.5% Abnormality of the sacrum 7.5% Benign neoplasm of the central nervous system 7.5% Hemiplegia/hemiparesis 7.5% Hypercalcemia 7.5% Intestinal obstruction 7.5% Irregular hyperpigmentation 7.5% Limitation of joint mobility 7.5% Neoplasm of the pancreas 7.5% Osteolysis 7.5% Skin ulcer 7.5% Tracheoesophageal fistula 7.5% Abnormality of connective tissue - Autosomal dominant inheritance - Fibroma - 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)