fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Dihydropyrimidinase deficiency ?
What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase 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) Abnormal pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - 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. + GARD + Dihydropyrimidinase deficiency
What are the symptoms of Radio-ulnar synostosis type 1 ?
What are the signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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. + GARD + Radio-ulnar synostosis type 1
What is (are) Hemifacial microsomia ?
Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person. + GARD + Hemifacial microsomia
What causes Hemifacial microsomia ?
What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia. + GARD + Hemifacial microsomia
Is Hemifacial microsomia inherited ?
Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In a very small number of cases, hemifacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a 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. The gene or genes involved in hemifacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved. + GARD + Hemifacial microsomia
What are the treatments for Hemifacial microsomia ?
How might hemifacial microsomia be treated? Treatment of hemifacial microsomia varies depending on the features present and the severity in each affected person. Various types of surgeries may be needed in many cases. Some children need breathing support or a tracheostomy soon after birth if the jaw is severely affected. However in most cases, airway problems can be managed without surgery. Those with a jaw deformity and/or clefts may have feeding problems and may need supplemental feedings through a nasogastric tube to support growth and weight gain. Babies born with cleft lip or palate can have surgical repairs done during the first year. Cleft lip repair is typically performed when the child is 3-6 months old, while cleft palate surgery is generally performed when the child is about a year old. A lateral facial cleft, one of the most severe abnormalities associated with the condition, also requires reconstruction in stages. If eye closure is incomplete due to eyelid abnormalities or facial paralysis is present, a child may need eye protection or surgery. Surgery may also be used for eyelid differences to reposition the lower lids and corners of the eyes. Some children with abnormally shaped or missing ears may choose to have a series of reconstructive surgeries to make the ear appear more normal. Children with skin, cheek and other soft tissue deficiencies may need augmentation procedures such as fat grafting or tissue transfer. Severe bone abnormalities may require surgery as well. Because multiple body systems may be involved in hemifacial microsomia, affected people should continually be monitored for complications. + GARD + Hemifacial microsomia
What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ?
What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. 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) Anterior rib cupping - Brachydactyly syndrome - Broad foot - Broad nasal tip - Broad palm - Coarse facial features - Cone-shaped capital femoral epiphysis - Coxa vara - Delayed CNS myelination - Delayed skeletal maturation - Depressed nasal bridge - Flared iliac wings - Flexion contracture - High palate - Hypertelorism - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Intellectual disability, progressive - Low anterior hairline - Low-set ears - Malar flattening - Metaphyseal cupping of metacarpals - Metaphyseal widening - Optic disc pallor - Peg-like central prominence of distal tibial metaphyses - Platyspondyly - Prominent sternum - Seizures - Short femoral neck - Short finger - Short neck - Short stature - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thick eyebrow - Thin ribs - Thoracic kyphosis - Widened subarachnoid space - Wormian bones - 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. + GARD + Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
What are the symptoms of Nystagmus, congenital motor, autosomal recessive ?
What are the signs and symptoms of Nystagmus, congenital motor, autosomal recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus, congenital motor, autosomal recessive. 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 nystagmus - 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. + GARD + Nystagmus, congenital motor, autosomal recessive
What is (are) N-acetylglutamate synthetase deficiency ?
N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion. + GARD + N-acetylglutamate synthetase deficiency
What are the symptoms of N-acetylglutamate synthetase deficiency ?
What are the signs and symptoms of N-acetylglutamate synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for N-acetylglutamate synthetase 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) Aggressive behavior - Autosomal recessive inheritance - Cognitive impairment - Coma - Confusion - Failure to thrive - Hyperammonemia - Lethargy - Respiratory distress - Seizures - 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. + GARD + N-acetylglutamate synthetase deficiency
What are the symptoms of Hemifacial hyperplasia strabismus ?
What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. 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) Facial asymmetry 90% Cleft palate 50% Dental malocclusion 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Visual impairment 50% Amblyopia - Autosomal dominant inheritance - Hemifacial hypertrophy - Submucous cleft hard palate - 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. + GARD + Hemifacial hyperplasia strabismus
What are the symptoms of Hypochromic microcytic anemia with iron overload ?
What are the signs and symptoms of Hypochromic microcytic anemia with iron overload? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochromic microcytic anemia with iron overload. 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 metabolism/homeostasis - Abnormality of the liver - Anemia - 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. + GARD + Hypochromic microcytic anemia with iron overload
What is (are) Cockayne syndrome type III ?
Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. + GARD + Cockayne syndrome type III
What are the symptoms of Cockayne syndrome type III ?
What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - 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. + GARD + Cockayne syndrome type III
What is (are) Nail-patella syndrome ?
Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person. + GARD + Nail-patella syndrome