Druvith/transformed_medDataset huggingface dataset:
What is (are) Chromosome 6q deletion ? 
 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Pituitary hormone deficiency, combined 2 ? 
 What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 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) Adrenal insufficiency - Autosomal recessive inheritance - Hypoglycemic seizures - Hypogonadism - Hypothyroidism - Neonatal hypoglycemia - Panhypopituitarism - Prolactin deficiency - 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.
What are the symptoms of Teebi Kaurah syndrome ? 
 What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah 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) Anonychia 90% Aplastic/hypoplastic toenail 90% Microcephaly 50% Single transverse palmar crease 50% Carious teeth 7.5% Clinodactyly of the 5th finger 7.5% Sloping forehead 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.
What are the symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations ? 
 What are the signs and symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia with multiple dislocations. 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 bone mineral density 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Abnormality of the wrist 90% Depressed nasal bridge 90% Kyphosis 90% Malar flattening 90% Micromelia 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the fingernails 50% Abnormality of the larynx 50% Abnormality of the sacrum 50% Anteverted nares 50% Cognitive impairment 50% Enlarged thorax 50% Frontal bossing 50% Genu valgum 50% Macrocephaly 50% Osteoarthritis 50% Patellar aplasia 50% Short nose 50% Tracheomalacia 50% Genu varum 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Pes planus 7.5% Short neck 7.5% Autosomal dominant inheritance - Broad distal phalanx of finger - Carpal bone hypoplasia - Caudal interpedicular narrowing - Congenital hip dislocation - Delayed phalangeal epiphyseal ossification - Dislocated radial head - Flared metaphysis - Flat capital femoral epiphysis - Hypoplasia of midface - Hypoplasia of the capital femoral epiphysis - Irregular epiphyses - Irregular vertebral endplates - Joint laxity - Large joint dislocations - Long distal phalanx of finger - Long proximal phalanx of finger - Metaphyseal irregularity - Narrow femoral neck - Posterior scalloping of vertebral bodies - Slender distal phalanx of finger - Slender proximal phalanx of finger - Small epiphyses - Soft skin - Spinal dysraphism - Spondyloepimetaphyseal dysplasia - Streaky metaphyseal sclerosis - 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.
What are the symptoms of Bangstad syndrome ? 
 What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad 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 parathyroid gland 90% Abnormality of the teeth 90% Abnormality of the testis 90% Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Deviation of finger 90% EEG abnormality 90% Hypercortisolism 90% Hyperinsulinemia 90% Hypothyroidism 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Polycystic ovaries 90% Seizures 90% Short stature 90% Sloping forehead 90% Type I diabetes mellitus 90% Autosomal recessive inheritance - Brain very small - Cerebral hypoplasia - Goiter - Insulin-resistant diabetes mellitus - Intellectual disability - Large eyes - Narrow face - Pancytopenia - Primary gonadal insufficiency - Progressive cerebellar ataxia - Retrognathia - Severe short stature - Small for gestational age - 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.
What is (are) Autoimmune polyglandular syndrome type 1 ? 
 Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion.
What are the symptoms of Autoimmune polyglandular syndrome type 1 ? 
 What are the signs and symptoms of Autoimmune polyglandular syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune polyglandular syndrome type 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) Abnormality of calcium-phosphate metabolism 90% Abnormality of the cerebral vasculature 90% Abnormality of the fingernails 90% Autoimmunity 90% Hypercortisolism 90% Hypoparathyroidism 90% Opacification of the corneal stroma 90% Photophobia 90% Primary adrenal insufficiency 90% Visual impairment 90% Cataract 50% Abnormal hair quantity 7.5% Cerebral calcification 7.5% Hypopigmented skin patches 7.5% Alopecia - Anemia - Asplenia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cholelithiasis - Chronic active hepatitis - Chronic atrophic gastritis - Chronic mucocutaneous candidiasis - Diarrhea - Female hypogonadism - Hypoplasia of dental enamel - Juvenile onset - Keratoconjunctivitis - Malabsorption - Type I diabetes mellitus - Vitiligo - 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.
What are the symptoms of Bile acid synthesis defect, congenital, 4 ? 
 What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. 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 coagulation cascade - Autosomal recessive inheritance - Elevated hepatic transaminases - Failure to thrive - Fat malabsorption - Giant cell hepatitis - Hepatic failure - Hepatomegaly - Hyperbilirubinemia - Intrahepatic cholestasis - Neonatal onset - Prolonged neonatal jaundice - 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.
What is (are) Familial prostate cancer ? 
 Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.
What are the symptoms of Familial prostate cancer ? 
 What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. 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 - Neoplasm - Prostate cancer - 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.
What are the symptoms of Glomerulopathy with fibronectin deposits 1 ? 
 What are the signs and symptoms of Glomerulopathy with fibronectin deposits 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - 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.
What is (are) Absence of Tibia ? 
 Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).
What are the symptoms of Absence of Tibia ? 
 What are the signs and symptoms of Absence of Tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Absence of Tibia. 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) Absent tibia - Autosomal 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.
What are the symptoms of Deafness, epiphyseal dysplasia, short stature ? 
 What are the signs and symptoms of Deafness, epiphyseal dysplasia, short stature? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, epiphyseal dysplasia, short stature. 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) Hearing impairment 90% Short stature 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Hyperlordosis 50% Lacrimation abnormality 50% Myopia 50% Pointed chin 50% Short neck 50% Short thorax 50% Triangular face 50% Umbilical hernia 50% Brachydactyly syndrome 7.5% Frontal bossing 7.5% Neurological speech impairment 7.5% Retinal detachment 7.5% Abnormality of femoral epiphysis - Autosomal recessive inheritance - Growth delay - Inguinal hernia - Intellectual disability, moderate - Lacrimal duct stenosis - Sensorineural hearing impairment - 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.
What are the symptoms of Autosomal recessive spastic ataxia 4 ? 
 What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. 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) Emotional lability 5% Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dysarthria - Hyporeflexia - Nystagmus - Optic atrophy - Slow progression - Spastic ataxia - Spastic paraparesis - 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.
What is (are) Noonan syndrome 1 ? 
 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.