fenil210/Med-Lamma huggingface dataset:
What is (are) Pseudopseudohypoparathyroidism ?
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP. + GARD + Pseudopseudohypoparathyroidism
What are the symptoms of Pseudopseudohypoparathyroidism ?
What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. 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) Intellectual disability 5% Autosomal dominant inheritance - Brachydactyly syndrome - Cataract - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Full cheeks - Hypoplasia of dental enamel - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Short metacarpal - Short metatarsal - Short neck - Short stature - 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 + Pseudopseudohypoparathyroidism
What is (are) Hardikar syndrome ?
Hardikar syndrome is a very rare multiple congenital malformation syndrome characterized by obstructive liver and kidney disease, intestinal malrotation, genitourinary abnormalities, cleft lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. Only four cases have been reported in the medical literature. The cause of this condition remains unknown, although an overlap with Kabuki syndrome and Alagille syndrome have been debated. + GARD + Hardikar syndrome
What are the symptoms of Hardikar syndrome ?
What are the signs and symptoms of Hardikar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hardikar 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 retinal pigmentation 90% Abnormality of the cardiovascular system 90% Abnormality of the ureter 90% Cleft palate 90% Extrahepatic biliary duct atresia 90% Non-midline cleft lip 90% Chorioretinal degeneration 5% Blepharophimosis - Cholangitis - Cleft upper lip - Coarctation of aorta - Congenital onset - Elevated hepatic transaminases - Failure to thrive - Growth delay - Hepatomegaly - Hydronephrosis - Hydroureter - Hyperbilirubinemia - Intestinal malrotation - Jaundice - Patent ductus arteriosus - Patent foramen ovale - Pigmentary retinopathy - Portal hypertension - Pruritus - Pulmonary artery stenosis - Recurrent urinary tract infections - Splenomegaly - Sporadic - Ureteral stenosis - Vaginal atresia - Ventricular septal defect - Vesicoureteral reflux - 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 + Hardikar syndrome
What are the symptoms of Graham Boyle Troxell syndrome ?
What are the signs and symptoms of Graham Boyle Troxell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Graham Boyle Troxell 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) Hypertension 90% Multicystic kidney dysplasia 90% Pulmonary fibrosis 90% Recurrent respiratory infections 50% 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 + Graham Boyle Troxell syndrome
What is (are) Alzheimer disease ?
Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page. + GARD + Alzheimer disease
What is (are) X-linked visceral heterotaxy 1 ?
X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. + GARD + X-linked visceral heterotaxy 1
What are the symptoms of X-linked visceral heterotaxy 1 ?
What are the signs and symptoms of X-linked visceral heterotaxy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked visceral heterotaxy 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) Abdominal situs inversus - Asplenia - Dextrocardia - Patent ductus arteriosus - Polysplenia - Pulmonic stenosis - Ventricular septal defect - X-linked 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 + X-linked visceral heterotaxy 1
What is (are) Split hand foot malformation ?
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. + GARD + Split hand foot malformation
What are the symptoms of Split hand foot malformation ?
What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. 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 chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the pinna 35% Hearing impairment 35% Cleft palate 33% Intellectual disability 33% Oligodactyly (feet) 33% Oligodactyly (hands) 33% Syndactyly 33% Abnormality of cardiovascular system morphology 13% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the tongue 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the phalanges of the hand - Aplasia/Hypoplasia of the phalanges of the toes - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad hallux - Camptodactyly - Clinodactyly - Ectrodactyly - Finger syndactyly - High palate - Incomplete penetrance - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Short metacarpal - Short phalanx of finger - Split foot - Split hand - Toe syndactyly - Triphalangeal thumb - X-linked 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 + Split hand foot malformation
What causes Split hand foot malformation ?
What causes split hand foot malformation? Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance. In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring. In conditions with reduced penetrance a person who inherits the underlying genetic defect, may never develop the condition. More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications). + GARD + Split hand foot malformation
What is (are) AL amyloidosis ?
AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed. + GARD + AL amyloidosis
What is (are) GRACILE syndrome ?
GRACILE syndrome is an inherited metabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). They will also have problems with the flow of bile from the liver (cholestasis) and too much iron in their blood. Affected individuals arent typically born with unique physical features. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy. + GARD + GRACILE syndrome
What are the symptoms of GRACILE syndrome ?
What are the signs and symptoms of GRACILE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GRACILE 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 iron homeostasis 90% Abnormality of the renal tubule 90% Aminoaciduria 90% Cirrhosis 90% Hearing impairment 90% Hepatic steatosis 90% Abnormality of hair texture 50% Aminoaciduria 20/20 Cholestasis 19/20 Neonatal hypotonia 3/20 Chronic lactic acidosis - Increased serum ferritin - Increased serum iron - Increased serum pyruvate - Intrauterine growth retardation - 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 + GRACILE syndrome
What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ?
What are the signs and symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. 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 retinal pigmentation 90% Incoordination 90% Myopathy 90% Type II diabetes mellitus 90% Ataxia - Autosomal dominant inheritance - Diabetes mellitus - Rod-cone dystrophy - Skeletal muscle atrophy - 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 atrophy ataxia retinitis pigmentosa and diabetes mellitus
What is (are) Mucolipidosis type 4 ?
Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Mucolipidosis type 4