fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Juberg Marsidi syndrome ?
What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi 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 palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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 + Juberg Marsidi syndrome
What is (are) Mevalonic aciduria ?
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive. The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS). + GARD + Mevalonic aciduria
What are the symptoms of Mevalonic aciduria ?
What are the signs and symptoms of Mevalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Mevalonic 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) Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Dolichocephaly 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Splenomegaly 90% Triangular face 90% Blue sclerae 50% Cataract 50% Incoordination 50% Low-set, posteriorly rotated ears 50% Kyphoscoliosis 5% Aciduria - Agenesis of cerebellar vermis - Arthralgia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Diarrhea - Edema - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Failure to thrive - Fluctuating hepatomegaly - Fluctuating splenomegaly - Large fontanelles - Leukocytosis - Low-set ears - Lymphadenopathy - Morbilliform rash - Normocytic hypoplastic anemia - Nystagmus - Posteriorly rotated ears - Progressive cerebellar ataxia - Skin rash - Thrombocytopenia - 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 + Mevalonic aciduria
What are the treatments for Mevalonic aciduria ?
How might mevalonic aciduria be treated? Treatment of mevalonic aciduria remains a challenge. There is no standard treatment that is effective in all patients, so it remains mainly supportive. Treatment with simvastatin (an inhibitor of hydroxymethylglutaryl coenzyme A reductase, the enzyme that catalyzes the formation of mevalonic acid), which has been used with guarded success in patients with HIDS, worsened the clinical status of two patients with mevalonic aciduria. Anakinra, another medication used with some degree of success in HIDS patients, induced partial remission in at least one patient with mevalonic aciduria, but not all patients respond to so favorably.  Reports of successful treatment of mevalonic aciduria through allogenic bone marrow transplantation have also surfaced. At this point, this therapy is investigational and potentially applicable to patients with mevalonic aciduria whose condition is resistant to therapy with anti-inflammatory drugs (e.g., inhibitors of TNF-alpha and interleukin-1 beta). The following articles provide additional details regarding treatment of mevalonic aciduria. Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A. Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics. 2007 Feb;119(2):e523-7. Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debr M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med. 2007 Jun 28;356(26):2700-3. Arkwright PD, Abinun M, Cant AJ. Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med. 2007 Sep 27;357(13):1350. + GARD + Mevalonic aciduria
What is (are) Marshall-Smith syndrome ?
Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition. + GARD + Marshall-Smith syndrome
What are the symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation ?
What are the signs and symptoms of Epidermolysis bullosa, late-onset localized junctional, with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, late-onset localized junctional, with 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) Abnormality of the teeth - Autosomal recessive inheritance - Cleft palate - Dystrophic toenail - Intellectual disability - Late onset - Lens subluxation - Mandibular prognathia - Short philtrum - Thick upper lip vermilion - 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 + Epidermolysis bullosa, late-onset localized junctional, with mental retardation
What are the symptoms of Anterior polar cataract 2 ?
What are the signs and symptoms of Anterior polar cataract 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 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) Anterior polar cataract - Autosomal dominant 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 + Anterior polar cataract 2
What are the symptoms of Brachydactyly Mononen type ?
What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen 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) Micromelia 90% Short distal phalanx of finger 90% Short hallux 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormal dermatoglyphics 50% Abnormality of epiphysis morphology 50% Abnormality of the fingernails 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Exostoses 50% Short stature 50% Symphalangism affecting the phalanges of the hand 50% Hernia of the abdominal wall 7.5% Absent distal phalanx of the 2nd toe - Aplasia of the distal phalanx of the 2nd finger - Mild short stature - Proximal fibular overgrowth - Short 1st metacarpal - Short first metatarsal - Synostosis of carpals/tarsals - X-linked dominant 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 + Brachydactyly Mononen type
What is (are) Hereditary sensory neuropathy type IE ?
Hereditary sensory neuropathy type IE (HSNIE) is a progressive disorder of the central and peripheral nervous systems. Symptoms typically begin by age 20 to 35 and include sensory impairment of the lower legs and feet; loss of sweating in the hands and feet; sensorineural hearing loss; and gradual decline of mental ability (dementia). The severity of symptoms and age of onset vary, even within the same family. HSNIE is caused by a mutation in the DNMT1 gene and is inherited in an autosomal dominant manner. There is no effective treatment, but management may include injury prevention, the use of hearing aids, and sedative or antipsychotic medications for symptoms of dementia. + GARD + Hereditary sensory neuropathy type IE
What are the symptoms of Hereditary sensory neuropathy type IE ?
What are the signs and symptoms of Hereditary sensory neuropathy type IE? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type IE. 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) Apathy - Autosomal dominant inheritance - Cerebral atrophy - Decreased number of peripheral myelinated nerve fibers - Dementia - Hyporeflexia - Impulsivity - Irritability - Memory impairment - Osteomyelitis - Progressive - Sensorineural hearing impairment - Sensory neuropathy - Somnolence - 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 + Hereditary sensory neuropathy type IE
Is Hereditary sensory neuropathy type IE inherited ?
How is hereditary sensory neuropathy type IE inherited? Hereditary sensory neuropathy type IE (HSNIE) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes HSNIE has children, each child has a 50% (1/2) chance to inherit the mutated gene. A person who does not inherit the mutation from an affected parent is not at risk to pass the condition on to his/her children. + GARD + Hereditary sensory neuropathy type IE
What are the treatments for Hereditary sensory neuropathy type IE ?
How might hereditary sensory neuropathy type IE be treated? There is currently no effective treatment for any type of hereditary sensory neuropathy. Management of symptoms may include: meticulous care of the distal limbs, which includes proper fit of shoes, prevention and treatment of callus formation, cleaning and protection of wounds, and avoidance of trauma to the hands and feet injury prevention when sensory impairment is significant the use of hearing aids and/or assistive communication methods as needed sedative or antipsychotic medications to help reduce the restlessness, roaming behavior, delusions, and hallucinations associated with dementia psychological support for caregivers + GARD + Hereditary sensory neuropathy type IE
What are the symptoms of Orofaciodigital syndrome 8 ?
What are the signs and symptoms of Orofaciodigital syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 8. 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 calvarial morphology 90% Abnormality of the eyelashes 90% Abnormality of the palate 90% Abnormality of the voice 90% Anteverted nares 90% Bifid tongue 90% Blepharophimosis 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Chorioretinal coloboma 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% EEG abnormality 90% Finger syndactyly 90% Hearing abnormality 90% Increased number of teeth 90% Lip pit 90% Microcephaly 90% Non-midline cleft lip 90% Nystagmus 90% Polyhydramnios 90% Postaxial hand polydactyly 90% Prominent nasal bridge 90% Short philtrum 90% Short stature 90% Synophrys 90% Tapered finger 90% Telecanthus 90% Upslanted palpebral fissure 90% Ventriculomegaly 90% Wide nasal bridge 90% Bifid nasal tip - Broad nasal tip - Cleft palate - High palate - Hypertelorism - Hypoplasia of the epiglottis - Median cleft lip - Milia - Polydactyly - Recurrent aspiration pneumonia - Short tibia - Strabismus - 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. + GARD + Orofaciodigital syndrome 8
What are the symptoms of Insulinoma ?
What are the signs and symptoms of Insulinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. 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) Insulinoma - Somatic mutation - 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 + Insulinoma
What is (are) Farber's disease ?
Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farber's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner. + GARD + Farber's disease