Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Scalp ear nipple syndrome ? 
 What are the signs and symptoms of Scalp ear nipple syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp ear nipple 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 hair quantity 90% Abnormality of the antihelix 90% Abnormality of the antitragus 90% Abnormality of the tragus 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the nipples 90% Abnormality of the fingernails 50% Cataract 50% Delayed eruption of teeth 50% Hypertension 50% Recurrent urinary tract infections 50% Telecanthus 50% Type I diabetes mellitus 50% Abnormality of the kidney 7.5% Abnormality of the ureter 7.5% Cleft eyelid 7.5% Hypohidrosis 7.5% Anteverted nares 5% Blepharophimosis 5% Congenital cataract 5% Epicanthus 5% Hypotelorism 5% Iris coloboma 5% Mandibular prognathia 5% Pyelonephritis 5% Renal agenesis 5% Renal hypoplasia 5% Renal insufficiency 5% Short columella 5% Sparse hair 5% 2-3 toe syndactyly - 3-4 finger cutaneous syndactyly - Abnormality of the endocrine system - Abnormality of the thorax - Agenesis of permanent teeth - Autosomal dominant inheritance - Breast aplasia - Cupped ear - Depressed nasal bridge - Low-set ears - Microtia - Nail dysplasia - Palpebral edema - Protruding ear - Small earlobe - Underdeveloped antitragus - Underdeveloped tragus - 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 Bardet-Biedl syndrome 2 ? 
 What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 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) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 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 - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - 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.
What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ? 
 What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. 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) Agenesis of corpus callosum - Ambiguous genitalia, male - Arnold-Chiari type I malformation - Autosomal recessive inheritance - Blepharophimosis - Camptodactyly - Cleft palate - Craniosynostosis - Cryptorchidism - Decreased palmar creases - Dolichocephaly - Epicanthus - Feeding difficulties in infancy - Glabellar hemangioma - Hand clenching - Hydronephrosis - Hypertelorism - Hypertonia - Hypoplasia of midface - Hypoplastic philtrum - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Intestinal malrotation - Joint contracture of the hand - Long philtrum - Low-set ears - Malar flattening - Micropenis - Microtia - Multiple joint contractures - Multiple small bowel atresias - Narrow chest - Omphalocele - Pectus carinatum - Pectus excavatum - Ptosis - Sensorineural hearing impairment - Short columella - Short nose - Slender finger - Smooth philtrum - Stenosis of the external auditory canal - Strabismus - Supernumerary nipple - Thin vermilion border - Trigonocephaly - Turricephaly - Umbilical hernia - Upslanted palpebral fissure - Ventricular septal defect - Vesicoureteral reflux - Wide intermamillary distance - 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 dominant intermediate Charcot-Marie-Tooth disease type F ? 
 What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. 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 - Axonal regeneration - Distal sensory impairment - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - 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 Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ? 
 What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. 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 renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of 17-alpha-hydroxylase deficiency ? 
 What are the signs and symptoms of 17-alpha-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-alpha-hydroxylase 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) Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Gynecomastia - Hypertension - Hypokalemic alkalosis - Male pseudohermaphroditism - Primary amenorrhea - 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) Growth hormone deficiency ? 
 Growth hormone deficiency is characterized by abnormally short height due to lack (or shortage) of growth hormone. It can be congenital (present at birth) or acquired. Most of the time, no single clear cause can be identified. Most cases are identified in children. Although it is uncommon, growth hormone deficiency may also be diagnosed in adults. Too little growth hormone can cause short stature in children, and changes in muscle mass, cholesterol levels, and bone strength in adults. In adolescents, puberty may be delayed or absent. Treatment involves growth hormone injections.
What are the symptoms of Spastic paraplegia 17 ? 
 What are the signs and symptoms of Spastic paraplegia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 17. 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 - Babinski sign - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hyperreflexia - Impaired vibration sensation in the lower limbs - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Slow progression - Spastic gait - Spastic paraplegia - Thenar muscle atrophy - Thenar muscle weakness - 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) Blue cone monochromatism ? 
 Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decreases with age, no obvious retinal abnormalities, and poor or no color discrimination.
What are the symptoms of Blue cone monochromatism ? 
 What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Pontocerebellar hypoplasia type 3 ? 
 What are the signs and symptoms of Pontocerebellar hypoplasia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia 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) Autosomal recessive inheritance - Brachycephaly - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Decreased body weight - Depressed nasal bridge - Downturned corners of mouth - Full cheeks - Hearing impairment - High palate - Hyperreflexia - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Long palpebral fissure - Long philtrum - Low-set ears - Macrotia - Muscular hypotonia of the trunk - Neonatal hypotonia - Optic atrophy - Poor head control - Progressive - Progressive microcephaly - Proptosis - Seizures - Short stature - Spasticity - 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 Hyperlipidemia type 3 ? 
 What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia 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) Abnormal glucose tolerance - Angina pectoris - Hypercholesterolemia - Hypertriglyceridemia - Obesity - Peripheral arterial disease - Xanthomatosis - 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 Long QT syndrome 3 ? 
 What are the signs and symptoms of Long QT syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 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) Autosomal dominant inheritance - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - 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) X-linked dominant scapuloperoneal myopathy ? 
 X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.