fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency ?
What are the signs and symptoms of Medium-chain 3-ketoacyl-coa thiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain 3-ketoacyl-coa thiolase 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) Autosomal recessive inheritance - Decreased liver function - Dehydration - Metabolic acidosis - Myoglobinuria - Neonatal death - Rhabdomyolysis - 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 + Medium-chain 3-ketoacyl-coa thiolase deficiency
What are the symptoms of Nephrotic syndrome, idiopathic, steroid-resistant ?
What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. 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 - Edema - Focal segmental glomerulosclerosis - Hyperlipidemia - Hypoalbuminemia - Juvenile onset - Nephrotic syndrome - Proteinuria - Rapidly progressive - Stage 5 chronic kidney disease - 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. + GARD + Nephrotic syndrome, idiopathic, steroid-resistant
What are the symptoms of Tetramelic monodactyly ?
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. + GARD + Tetramelic monodactyly
What are the symptoms of Congenital rubella ?
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. + GARD + Congenital rubella
What is (are) Waardenburg syndrome type 2 ?
Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.  Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait. + GARD + Waardenburg syndrome type 2
What are the symptoms of Waardenburg syndrome type 2 ?
What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg 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) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - 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. + GARD + Waardenburg syndrome type 2
How to diagnose Waardenburg syndrome type 2 ?
How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family.  In some subtypes, the genetic cause is a known gene.  In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known.  There are five different subtypes:  Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3 Type 2B is associated with a locus on chromosome 1 Type 2C is associated with a locus on chromosome 8 Type 2D is caused by mutations is the SNAI2 gene on chromosome 8 Type 2E is caused by mutations in the SOX10 gene on chromosome 22 Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam.  Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2, but do not help identify a specific subtype. + GARD + Waardenburg syndrome type 2
What are the symptoms of Muscular dystrophy white matter spongiosis ?
What are the signs and symptoms of Muscular dystrophy white matter spongiosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. 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 palate 90% Cognitive impairment 90% EMG abnormality 90% Facial palsy 90% Macrocephaly 90% Muscular hypotonia 90% Myotonia 90% Narrow face 90% Seizures 90% Skeletal muscle atrophy 90% Respiratory insufficiency 50% 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 + Muscular dystrophy white matter spongiosis
What are the symptoms of Spondylometaphyseal dysplasia type A4 ?
What are the signs and symptoms of Spondylometaphyseal dysplasia type A4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia type A4. 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 hip bone 90% Micromelia 90% Platyspondyly 90% Short stature 90% Brachydactyly syndrome 50% Enlarged thorax 7.5% Limitation of joint mobility 7.5% Autosomal recessive inheritance - Broad ischia - Costochondral joint sclerosis - Coxa valga - Disproportionate short-limb short stature - Dolichocephaly - Enlargement of the costochondral junction - Flat acetabular roof - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Irregular patellae - Metaphyseal irregularity - Metaphyseal sclerosis - Metaphyseal widening - Narrow greater sacrosciatic notches - Osteoporotic metatarsal - Osteoporotic tarsals - Ovoid vertebral bodies - Pectus carinatum - Sclerotic humeral metaphysis - Severe short stature - Spondylometaphyseal 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. + GARD + Spondylometaphyseal dysplasia type A4
What is (are) Fetal cystic hygroma ?
Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis. + GARD + Fetal cystic hygroma
What are the symptoms of Fetal cystic hygroma ?
What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. 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 - Fetal cystic hygroma - Hydrops fetalis - Stillbirth - 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 + Fetal cystic hygroma
What is (are) Mitochondrial complex IV deficiency ?
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition present. Features in mildly affected individuals may include muscle weakness and hypotonia; in more severely affected individuals, brain dysfunction; heart problems; an enlarged liver; lactic acidosis; and/or a specific group of features known as Leigh syndrome may also be present. COX deficiency is caused by mutations in any of at least 14 genes; the inheritance pattern depends on the gene involved. The condition is frequently fatal in childhood, but mildly affected individuals may survive into adolescence or adulthood. + GARD + Mitochondrial complex IV deficiency
What are the treatments for Mitochondrial complex IV deficiency ?
How might cytochrome C oxidase deficiency be treated? There is currently no cure for cytochrome C oxidase (COX) deficiency. Management of all forms of COX deficiency generally focuses on the specific symptoms present in the affected individual and is largely supportive. The goals of treatment are to improve symptoms and slow progression of the disease; the effectiveness of treatment varies with each individual. Treatment generally does not reverse any damage that has already occurred. Prognosis varies depending on the form of COX deficiency present. Individuals with benign infantile mitochondrial myopathy may experience spontaneous recovery (although early diagnosis and intensive treatment is still needed until this point), while there may be rapid demise in individuals with Leigh syndrome. It is often recommended that individuals with mitochondrial disorders such as COX deficiency avoid fasting. Dehydration due to vomiting or illness may be treated with intravenous fluid if the individual is not able to take fluids orally. Seizures are typically controlled with anticonvulsants. Some affected individuals may benefit from physical, occupational, and speech therapies that are specifically tailored to their needs. Dietary supplements including certain vitamins and cofactors have shown varying degrees of benefit in individual cases. Individuals interested in specific management recommendations for themselves or relatives should speak with their healthcare providers. + GARD + Mitochondrial complex IV deficiency
What is (are) Geniospasm ?
Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families. + GARD + Geniospasm
What are the symptoms of Geniospasm ?
What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. 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 - Chin myoclonus - 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 + Geniospasm
Is Geniospasm inherited ?
How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected. + GARD + Geniospasm
How to diagnose Geniospasm ?
How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders. + GARD + Geniospasm