umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Acrorenal mandibular syndrome ?

Answer: What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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 fibula 90% Abnormality of the tibia 90% Aplasia/Hypoplasia of the radius 90% Renal hypoplasia/aplasia 90% Split foot 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the palate 50% Abnormality of the ribs 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the lungs 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Oligohydramnios 50% Pectus carinatum 50% Short neck 50% Abnormal form of the vertebral bodies 7.5% Abnormal lung lobation 7.5% Aplasia/Hypoplasia of the tongue 7.5% Congenital diaphragmatic hernia 7.5% Finger syndactyly 7.5% Kyphosis 7.5% Narrow face 7.5% Oral cleft 7.5% Scoliosis 7.5% Short philtrum 7.5% Sprengel anomaly 7.5% Tracheoesophageal fistula 7.5% Abnormal sacral segmentation - Abnormality of the cardiovascular system - Abnormality of the ureter - Absent nipple - Autosomal recessive inheritance - Bicornuate uterus - Butterfly vertebrae - Dolichocephaly - Elbow flexion contracture - Epicanthus - Foot polydactyly - Hand polydactyly - Hemivertebrae - High palate - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic scapulae - Kyphoscoliosis - Low-set ears - Missing ribs - Narrow chest - Narrow palate - Polycystic kidney dysplasia - Posteriorly rotated ears - Pulmonary hypoplasia - Renal agenesis - Rudimentary fibula - Rudimentary to absent tibiae - Thin ribs - Toe syndactyly - Uterus didelphys - 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.
Question: What are the symptoms of Septo-optic dysplasia ?

Answer: What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic dysplasia. 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) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - 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.
Question: What are the symptoms of Joubert syndrome with oculorenal anomalies ?

Answer: What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nephropathy 90% Chorioretinal coloboma 50% Iris coloboma 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow forehead 50% Nystagmus 50% Ptosis 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Prominent nasal bridge 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Agenesis of cerebellar vermis - Aplasia/Hypoplasia of the cerebellar vermis - Ataxia - Autosomal recessive inheritance - Blindness - Brainstem dysplasia - Dilated fourth ventricle - Dyspnea - Hepatic fibrosis - Hepatic steatosis - Hepatomegaly - Heterotopia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Molar tooth sign on MRI - Nephronophthisis - Occipital meningocele - Polycystic kidney dysplasia - Postaxial foot polydactyly - Postaxial hand polydactyly - Renal corticomedullary cysts - Retinal dystrophy - Stage 5 chronic kidney disease - Tachypnea - Tubular atrophy - Tubulointerstitial fibrosis - Undetectable electroretinogram - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Miller-Dieker syndrome ?

Answer: What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker 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) Intellectual disability 100% Motor delay 100% Anteverted nares 90% Cerebral cortical atrophy 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Posteriorly rotated ears 90% Seizures 90% Short nose 90% Abnormality of the cardiovascular system 50% Polyhydramnios 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Clinodactyly of the 5th finger 7.5% Incoordination 7.5% Nephropathy 7.5% Omphalocele 7.5% Sacral dimple 7.5% Lissencephaly 27/27 Short nose 26/26 Thick upper lip vermilion 25/25 Wide nasal bridge 24/25 Cavum septum pellucidum 17/22 Hypoplasia of the corpus callosum 17/23 Sacral dimple 14/19 Microcephaly 17/25 Deep palmar crease 14/21 Midline brain calcifications 13/24 Low-set ears 14/27 Clinodactyly of the 5th finger 10/24 Epicanthus 8/22 Intrauterine growth retardation 8/22 Polyhydramnios 6/20 Abnormality of cardiovascular system morphology 6/27 Joint contracture of the hand 6/27 Single transverse palmar crease 5/24 Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Camptodactyly - Cataract - Cleft palate - Contiguous gene syndrome - Cryptorchidism - Decreased fetal movement - Delayed eruption of teeth - Duodenal atresia - Failure to thrive - Heterotopia - Infantile muscular hypotonia - Infantile spasms - Inguinal hernia - Pachygyria - Pelvic kidney - Polydactyly - Progressive spastic paraplegia - Recurrent aspiration pneumonia - Upslanted palpebral fissure - 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.
Question: What are the symptoms of Menkes disease ?

Answer: What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes disease. 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 palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - 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.
Question: What are the symptoms of Frontometaphyseal dysplasia ?

Answer: What are the signs and symptoms of Frontometaphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontometaphyseal dysplasia. 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 dental morphology 90% Abnormality of frontal sinus 90% Abnormality of the metaphyses 90% Bowing of the long bones 90% Camptodactyly of finger 90% Craniofacial hyperostosis 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Abnormal form of the vertebral bodies 50% Abnormality of the palate 50% Accelerated skeletal maturation 50% Aplasia/Hypoplasia of the thumb 50% Arachnodactyly 50% Conductive hearing impairment 50% Elbow dislocation 50% Scoliosis 50% Sensorineural hearing impairment 50% Skeletal muscle atrophy 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the larynx 7.5% Abnormality of the urethra 7.5% Complete atrioventricular canal defect 7.5% Craniosynostosis 7.5% Tracheal stenosis 7.5% Ureteral stenosis 7.5% Ankle contracture - Antegonial notching of mandible - Anteriorly placed odontoid process - Broad phalanges of the hand - Coarse facial features - Coat hanger sign of ribs - Cor pulmonale - Coxa valga - Delayed eruption of teeth - Dental malocclusion - Elbow flexion contracture - Fused cervical vertebrae - Genu valgum - High palate - Hirsutism - Hydronephrosis - Hydroureter - Increased density of long bone diaphyses - Intellectual disability - Knee flexion contracture - Large foramen magnum - Long foot - Long phalanx of finger - Mitral valve prolapse - Partial fusion of carpals - Partial fusion of tarsals - Persistence of primary teeth - Pointed chin - Scapular winging - Selective tooth agenesis - Short chin - Stridor - Wide nasal bridge - Wrist flexion contracture - 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.
Question: What are the symptoms of 19p13.12 microdeletion syndrome ?

Answer: What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion 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) Cognitive impairment 90% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 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.
Question: What are the symptoms of Ulnar-mammary syndrome ?

Answer: What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary 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 fingernails 90% Hypohidrosis 90% Split hand 90% Abnormality of female internal genitalia 50% Abnormality of the wrist 50% Aplasia/Hypoplasia of the nipples 50% Cryptorchidism 50% Decreased fertility 50% Hypoplasia of penis 50% Obesity 50% Short stature 50% Abnormality of the humerus 7.5% Abnormality of the metacarpal bones 7.5% Absent hand 7.5% Aplasia of the pectoralis major muscle 7.5% Arrhythmia 7.5% Breast aplasia 7.5% Camptodactyly of finger 7.5% Ectopic anus 7.5% Hernia of the abdominal wall 7.5% Hypoplastic toenails 7.5% Laryngomalacia 7.5% Pectus carinatum 7.5% Postaxial hand polydactyly 7.5% Pyloric stenosis 7.5% Reduced number of teeth 7.5% Renal hypoplasia/aplasia 7.5% Short distal phalanx of finger 7.5% Sprengel anomaly 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Absent radius - Absent ulna - Anal atresia - Anal stenosis - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Axillary apocrine gland hypoplasia - Breast hypoplasia - Deformed radius - Delayed puberty - Ectopic posterior pituitary - Hypodontia - Hypoplasia of the radius - Hypoplasia of the ulna - Hypoplastic nipples - Hypoplastic scapulae - Imperforate hymen - Inguinal hernia - Inverted nipples - Micropenis - Shawl scrotum - Short 4th toe - Short 5th toe - Short clavicles - Short humerus - Sparse axillary hair - Sparse lateral eyebrow - Subglottic stenosis - 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.