fenil210/Med-Lamma huggingface dataset:
What is (are) Split hand/foot malformation X-linked ?
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 X-linked
What are the symptoms of Split hand/foot malformation X-linked ?
What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. 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) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - 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 X-linked
What is (are) Potassium aggravated myotonia ?
Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement.  The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia.  Potassium aggravated myotonia is different from other types of myotonia because symptoms get worse when an affected individual eats food that is rich in potassium.  Symptoms usually develop during childhood and vary, ranging from infrequent mild episodes to long periods of severe disease.  Potassium aggravated myotonia is an inherited condition that is caused by changes (mutations) in the SCN4A gene.  Treatment begins with avoiding foods that contain large amounts of potassium; other treatments may include physical therapy (stretching or massages to help relax muscles) or certain medications (such as mexiletine, carbamazapine, or acetazolamide). + GARD + Potassium aggravated myotonia
What are the symptoms of Potassium aggravated myotonia ?
What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. 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) EMG abnormality 90% Flexion contracture 90% Hypertonia 90% Myalgia 90% Myotonia 90% Chest pain 50% Feeding difficulties in infancy 50% Gait disturbance 50% Abnormality of the nose 7.5% Abnormality of the voice 7.5% Asthma 7.5% Cognitive impairment 7.5% Elevated serum creatine phosphokinase 7.5% Epicanthus 7.5% Hyperkalemia 7.5% Hyperlordosis 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Long philtrum 7.5% Muscle weakness 7.5% Muscular edema 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Short neck 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Apneic episodes in infancy - Autosomal dominant inheritance - Muscle stiffness - Stridor - 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 + Potassium aggravated myotonia
What are the symptoms of Papillon Lefevre syndrome ?
What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre 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 fingernails 90% Gingivitis 90% Palmoplantar keratoderma 90% Periodontitis 90% Premature loss of primary teeth 90% Pustule 90% Reduced number of teeth 90% Cerebral calcification 50% Recurrent respiratory infections 50% Skin ulcer 50% Arachnodactyly 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Liver abscess 7.5% Melanoma 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Atrophy of alveolar ridges - Autosomal recessive inheritance - Choroid plexus calcification - Palmoplantar hyperkeratosis - Premature loss of teeth - Severe periodontitis - 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 + Papillon Lefevre syndrome
What are the symptoms of Aplasia cutis congenita of limbs recessive ?
What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly 7.5% Skin ulcer 7.5% Toe syndactyly 7.5% Aplasia cutis congenita - Autosomal recessive inheritance - Congenital absence of skin of limbs - 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 + Aplasia cutis congenita of limbs recessive
What are the symptoms of Giant platelet syndrome ?
What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet 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) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - 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 + Giant platelet syndrome
What is (are) Multiple pterygium syndrome lethal type ?
Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.  Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. + GARD + Multiple pterygium syndrome lethal type
What are the symptoms of Multiple pterygium syndrome lethal type ?
What are the signs and symptoms of Multiple pterygium syndrome lethal type? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium syndrome lethal 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) Abnormality of the nose 90% Amniotic constriction ring 90% Camptodactyly of finger 90% Cystic hygroma 90% Epicanthus 90% Hydrops fetalis 90% Intrauterine growth retardation 90% Limitation of joint mobility 90% Polyhydramnios 90% Popliteal pterygium 90% Upslanted palpebral fissure 90% Webbed neck 90% Aplasia/Hypoplasia of the lungs 50% Cleft palate 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Short thorax 50% Abnormal dermatoglyphics 7.5% Abnormality of the upper urinary tract 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Intestinal malrotation 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Skeletal muscle atrophy 7.5% Synostosis of joints 7.5% Abnormal cervical curvature - Abnormal facial shape - Akinesia - Amyoplasia - Autosomal recessive inheritance - Depressed nasal ridge - Edema - Fetal akinesia sequence - Flexion contracture - Hypoplastic heart - Increased susceptibility to fractures - Joint dislocation - Low-set ears - Multiple pterygia - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - 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 + Multiple pterygium syndrome lethal type
What is (are) Glass-Chapman-Hockley syndrome ?
The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly). The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. + GARD + Glass-Chapman-Hockley syndrome
What are the symptoms of Glass-Chapman-Hockley syndrome ?
What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing together or fusing of the coronal suture. The coronal suture is found between the parts of the skull called the frontal bone and the two parietal bones. Forehead tends to be recessed and flattened.  Eye socket is elevated and tilted with protruding eyes.  Nose slants to one side.  Very small fingers (brachydactyl). The Human Phenotype Ontology provides the following list of signs and symptoms for Glass-Chapman-Hockley 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 distal phalanx of finger 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Craniosynostosis 90% Frontal bossing 90% Malar flattening 90% Tapered finger 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 + Glass-Chapman-Hockley syndrome
Is Glass-Chapman-Hockley syndrome inherited ?
How is Glass-Chapman-Hockley syndrome inherited? Based on the only family that has been reported in the medical literature, to date, the syndrome is believed to be inherited in an autosomal dominant manner. + GARD + Glass-Chapman-Hockley syndrome
What are the treatments for Glass-Chapman-Hockley syndrome ?
How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months of age. If other sutures, other than the coronal suture, are involved, other surgeries may be performed. + GARD + Glass-Chapman-Hockley syndrome
What are the symptoms of Limb deficiencies distal with micrognathia ?
What are the signs and symptoms of Limb deficiencies distal with micrognathia? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb deficiencies distal with micrognathia. 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% Split foot 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 ulna 7.5% Aplasia/Hypoplasia of the tongue 7.5% Cleft palate 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% Abnormality of the pinna - Autosomal dominant inheritance - Autosomal recessive inheritance - Camptodactyly - High palate - Intellectual disability - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Split hand - 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 + Limb deficiencies distal with micrognathia
What is (are) Pallister-Killian mosaic syndrome ?
Pallister-Killian mosaic syndrome is a disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of the Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. + GARD + Pallister-Killian mosaic syndrome
What is (are) COACH syndrome ?
COACH syndrome is a condition that mainly affects the brain and liver.  Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia).  Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).  This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene.  COACH syndrome is considered a rare form of another condition, Joubert syndrome. + GARD + COACH syndrome