fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Tyrosinemia type 3 ?
What are the signs and symptoms of Tyrosinemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia 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) 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Abnormality of the liver - Autosomal recessive inheritance - Hypertyrosinemia - Intellectual disability, mild - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Tyrosinemia type 3
What are the symptoms of Maturity-onset diabetes of the young, type 5 ?
What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. 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) Multicystic kidney dysplasia 90% Nephropathy 90% Diabetes mellitus 50% Biliary tract abnormality 33% Elevated hepatic transaminases 33% Elevated serum creatinine 33% Glucose intolerance 33% Glycosuria 33% Gout 33% Proteinuria 33% Stage 5 chronic kidney disease 33% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of male internal genitalia 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Arthritis 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hepatic steatosis 7.5% Hyperuricemia 7.5% Hypothyroidism 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Exocrine pancreatic insufficiency 6/7 Pancreatic hypoplasia 5/6 Renal cyst 19/23 Maturity-onset diabetes of the young 10/13 Abnormality of alkaline phosphatase activity 4/7 Multiple glomerular cysts 4/23 Bicornuate uterus 1/23 Hypoplasia of the uterus 1/23 Renal hypoplasia 1/23 Unilateral renal agenesis 1/23 Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased numbers of nephrons - Epididymal cyst - Hypospadias - Nephrolithiasis - Onset - Phenotypic variability - Ureteropelvic junction obstruction - 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 + Maturity-onset diabetes of the young, type 5
What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ?
What are the signs and symptoms of Alpha-ketoglutarate dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase 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) Cognitive impairment 90% Hypertonia 90% Incoordination 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of movement 50% Abnormality of the salivary glands 50% Hydrocephalus 50% Autosomal recessive inheritance - Congenital lactic acidosis - Death in childhood - Increased serum lactate - Metabolic acidosis - Muscular hypotonia - 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 + Alpha-ketoglutarate dehydrogenase deficiency
What are the symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ?
What are the signs and symptoms of Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features. 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 pinna - Aggressive behavior - Arnold-Chiari type I malformation - Blepharophimosis - Broad alveolar ridges - Broad foot - Broad nasal tip - Gingival overgrowth - Highly arched eyebrow - Hyperkeratosis - Hypertrichosis - Intellectual disability - Low anterior hairline - Low posterior hairline - Low-set ears - Posteriorly rotated ears - Prominent fingertip pads - Short chin - Short palpebral fissure - Short philtrum - Sporadic - Thick corpus callosum - Thick eyebrow - Upslanted palpebral fissure - Wide mouth - 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 + Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
What are the symptoms of Meckel syndrome type 3 ?
What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel 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) Cleft palate 5% Dandy-Walker malformation 5% Hydrocephalus 5% Autosomal recessive inheritance - Bile duct proliferation - Encephalocele - Hepatic fibrosis - Multicystic kidney dysplasia - Polydactyly - Postaxial hand polydactyly - 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 + Meckel syndrome type 3
What are the symptoms of Bardet-Biedl syndrome 6 ?
What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - 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 + Bardet-Biedl syndrome 6
What is (are) Split hand split foot nystagmus ?
Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good. + GARD + Split hand split foot nystagmus
What are the symptoms of Split hand split foot nystagmus ?
What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - 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 + Split hand split foot nystagmus
Is Split hand split foot nystagmus inherited ?
How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism. + GARD + Split hand split foot nystagmus
What are the symptoms of Apparent mineralocorticoid excess ?
What are the signs and symptoms of Apparent mineralocorticoid excess? The Human Phenotype Ontology provides the following list of signs and symptoms for Apparent mineralocorticoid excess. 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 circulating aldosterone level - Decreased circulating renin level - Failure to thrive - Hypertension - Hypertensive retinopathy - Hypokalemia - Metabolic alkalosis - Short stature - Small for gestational age - 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 + Apparent mineralocorticoid excess
What are the symptoms of Kosztolanyi syndrome ?
What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% 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 + Kosztolanyi syndrome
What is (are) Epithelial basement membrane corneal dystrophy ?
Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's basement membrane develops abnormally, causing the epithelial cells to not properly adhere to it. This leads to recurrent epithelial erosions, which can cause blurred vision and severe pain. This condition is usually not inherited. However, families with autosomal dominant inheritance and mutations in the TGFBI gene have been identified. + GARD + Epithelial basement membrane corneal dystrophy
What are the symptoms of Epithelial basement membrane corneal dystrophy ?
What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moderate to severe pain lasting as long as several days. Generally, the pain will be worse upon awakening in the morning. Other symptoms include sensitivity to light, excessive tearing, and foreign body sensation in the eye. This condition usually affects adults between the ages of 40 and 70, although it can develop earlier in life. It gets its name from the unusual appearance of the cornea during an eye exam. Most often, the affected epithelium will have a map-like appearance, i.e., large, slightly gray outlines that look like a continent on a map. There may also be clusters of opaque dots close to the map-like patches. Less frequently, the irregular basement membrane will form concentric lines in the central cornea that resemble small fingerprints. Epithelial basement membrane corneal dystrophy is not a progressive condition. Typically, it will flare up occasionally for a few years and then go away on its own, with no lasting loss of vision. Most people never know that they have this condition, since they do not have any pain or vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Epithelial basement membrane corneal dystrophy. 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 - Corneal dystrophy - Map-dot-fingerprint corneal dystrophy - Recurrent corneal erosions - 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 + Epithelial basement membrane corneal dystrophy