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

Answer: What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow 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) Low-molecular-weight proteinuria 100% Non-acidotic proximal tubulopathy 100% Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the corpus callosum 90% Broad nasal tip 90% Cognitive impairment 90% Depressed nasal bridge 90% High anterior hairline 90% Hypertelorism 90% Infra-orbital crease 90% Low-set, posteriorly rotated ears 90% Myopia 90% Proptosis 90% Proteinuria 90% Sensorineural hearing impairment 90% Short nose 90% Low-set ears 75% Broad forehead 50% Congenital diaphragmatic hernia 50% Diaphragmatic eventration 50% Macrocephaly 50% Omphalocele 50% Retinal detachment 50% Umbilical hernia 50% Visual impairment 50% Progressive visual loss 33% Retinal dystrophy 33% Abnormality of female internal genitalia 7.5% Chorioretinal coloboma 7.5% Hypoplasia of the iris 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Seizures 7.5% Ventricular septal defect 7.5% Bicornuate uterus 5% Cataract 1% Aplasia/Hypoplasia of the corpus callosum 11/11 Hypertelorism 12/12 Sensorineural hearing impairment 5/5 Severe Myopia 5/5 Short nose 9/11 Wide anterior fontanel 9/12 Congenital diaphragmatic hernia 9/13 Posteriorly rotated ears 7/11 Iris coloboma 3/6 Omphalocele 6/12 Intestinal malrotation 3/13 Autosomal recessive inheritance - Hypoplasia of midface - Malar flattening - Partial agenesis of the corpus callosum - 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 Maturity-onset diabetes of the young, type 5 ?

Answer: What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. 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) Multicystic kidney dysplasia 90% Nephropathy 90% Diabetes mellitus 50% Biliary tract abnormality 33% Elevated hepatic transaminases 33% Elevated serum creatinine 33% Glucose intolerance 33% Glycosuria 33% Gout 33% Proteinuria 33% Stage 5 chronic kidney disease 33% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of male internal genitalia 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Arthritis 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hepatic steatosis 7.5% Hyperuricemia 7.5% Hypothyroidism 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Exocrine pancreatic insufficiency 6/7 Pancreatic hypoplasia 5/6 Renal cyst 19/23 Maturity-onset diabetes of the young 10/13 Abnormality of alkaline phosphatase activity 4/7 Multiple glomerular cysts 4/23 Bicornuate uterus 1/23 Hypoplasia of the uterus 1/23 Renal hypoplasia 1/23 Unilateral renal agenesis 1/23 Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased numbers of nephrons - Epididymal cyst - Hypospadias - Nephrolithiasis - Onset - Phenotypic variability - Ureteropelvic junction obstruction - 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 Juberg Marsidi syndrome ?

Answer: What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi 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 palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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 Anophthalmos with limb anomalies ?

Answer: What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb 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) Abnormality of the eyebrow 90% Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia affecting the eye 90% Blepharophimosis 90% Finger syndactyly 90% Frontal bossing 90% Sandal gap 90% Synostosis of carpal bones 90% Toe syndactyly 90% Abnormal form of the vertebral bodies 50% Abnormality of bone mineral density 50% Abnormality of the fibula 50% Abnormality of the thumb 50% Abnormality of the tibia 50% Cleft upper lip 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hand polydactyly 50% Optic atrophy 50% Single transverse palmar crease 50% Split hand 50% Tarsal synostosis 50% Abnormal localization of kidney 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Malar flattening 7.5% Postaxial foot polydactyly 7.5% Talipes 7.5% Venous insufficiency 7.5% Abnormality of the cardiovascular system - Abnormality of the hair - Anophthalmia - Autosomal recessive inheritance - Camptodactyly of 2nd-5th fingers - Deep philtrum - Depressed nasal bridge - Fibular hypoplasia - Flared nostrils - Fused fourth and fifth metacarpals - High palate - Hip dislocation - Intellectual disability - Low-set ears - Microphthalmia - Oligodactyly (feet) - Oligodactyly (hands) - Postaxial hand polydactyly - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Retrognathia - Short nose - Short palpebral fissure - Talipes equinovarus - Tibial bowing - 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 Trichorhinophalangeal syndrome type 1 ?

Answer: What are the signs and symptoms of Trichorhinophalangeal syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal 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) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormally low-pitched voice - Accelerated bone age after puberty - Arthralgia - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Carious teeth - Chin with horizontal crease - Concave nail - Cone-shaped epiphyses of the middle phalanges of the hand - Cone-shaped epiphyses of the proximal phalanges of the hand - Coxa magna - Deep philtrum - Delayed eruption of teeth - Delayed skeletal maturation - Dental malocclusion - Fine hair - Flat capital femoral epiphysis - Infantile muscular hypotonia - Ivory epiphyses of the distal phalanges of the hand - Leukonychia - Microdontia - Narrow palate - Osteoarthritis - Osteopenia - Pear-shaped nose - Pes planus - Protruding ear - Recurrent respiratory infections - Scapular winging - Short metacarpal - Short metatarsal - Slow-growing hair - Sparse hair - Sparse lateral eyebrow - Swelling of proximal interphalangeal joints - Thin nail - 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 Geleophysic dwarfism ?

Answer: What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. 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 femur 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Delayed skeletal maturation 90% Full cheeks 90% Hypertelorism 90% Limitation of joint mobility 90% Long philtrum 90% Round face 90% Short nose 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the aortic valve 50% Abnormality of the tricuspid valve 50% Abnormality of the voice 50% Atria septal defect 50% Blepharophimosis 50% Hearing impairment 50% Hepatomegaly 50% Intrauterine growth retardation 50% Micromelia 50% Mitral stenosis 50% Otitis media 50% Platyspondyly 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Round ear 50% Thickened skin 50% Abnormality of the larynx 7.5% Apnea 7.5% Cognitive impairment 7.5% Pulmonary hypertension 7.5% Tracheal stenosis 7.5% Aortic valve stenosis - Autosomal recessive inheritance - Camptodactyly of finger - Congestive heart failure - Coxa valga - High pitched voice - Hypoplasia of the capital femoral epiphysis - Irregular capital femoral epiphysis - Joint stiffness - J-shaped sella turcica - Lack of skin elasticity - Osteopenia - Pectus excavatum - Seizures - Short foot - Short long bone - Short metacarpals with rounded proximal ends - Short palm - Small nail - Smooth philtrum - Thickened helices - Tricuspid stenosis - Upslanted palpebral fissure - Wide mouth - Wrist flexion contracture - 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 Femoral facial syndrome ?

Answer: What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial 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 femur 90% Cleft palate 90% Abnormality of the fibula 50% Abnormality of the hip bone 50% Abnormality of the sacrum 50% Abnormality of the tibia 50% Limb undergrowth 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Maternal diabetes 50% Preaxial foot polydactyly 50% Short nose 50% Short stature 50% Talipes 50% Thin vermilion border 50% Upslanted palpebral fissure 50% Vertebral segmentation defect 50% Abnormal localization of kidney 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Long penis 7.5% Radioulnar synostosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of the pinna - Abnormality of the renal collecting system - Absent vertebrae - Aplasia/hypoplasia of the femur - Dysplastic sacrum - Esotropia - Gastroesophageal reflux - Hemivertebrae - Humeroradial synostosis - Hypoplastic acetabulae - Hypoplastic labia majora - Inguinal hernia - Limited elbow movement - Limited shoulder movement - Low-set ears - Micropenis - Missing ribs - Polycystic kidney dysplasia - Preaxial hand polydactyly - Pulmonic stenosis - Renal agenesis - Rib fusion - Short fifth metatarsal - Short fourth metatarsal - Short humerus - Short third metatarsal - Smooth philtrum - Sporadic - Talipes equinovarus - Toe syndactyly - Truncus arteriosus - Underdeveloped nasal alae - Ventricular septal defect - 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 Fuhrmann syndrome ?

Answer: What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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% Adactyly 90% Aplasia/Hypoplasia of the fibula 90% Aplasia/Hypoplasia of the ulna 90% Femoral bowing 90% Hypoplasia of the radius 90% Radial bowing 90% Short stature 90% Talipes 90% Tarsal synostosis 90% Aplasia/Hypoplasia of the 5th finger 75% Aplasia/hypoplasia of the femur 75% Congenital hip dislocation 75% Hypoplastic iliac wing 75% Hypoplastic pelvis 75% Oligodactyly (feet) 75% Patellar aplasia 75% Abnormal finger flexion creases 50% Abnormality of the femur 50% Abnormality of the fingernails 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Anonychia 50% Bowing of the long bones 50% Clinodactyly of the 5th finger 50% Hypoplastic toenails 50% Postaxial hand polydactyly 50% Sacrococcygeal pilonidal abnormality 50% Single transverse palmar crease 50% Symphalangism affecting the phalanges of the hand 50% Ulnar deviation of finger 50% Aplasia/Hypoplasia involving the metacarpal bones 33% Aplasia/Hypoplasia of metatarsal bones 33% Oligodactyly (hands) 33% Talipes equinovarus 33% Toe syndactyly 33% Finger syndactyly 7.5% Low-set, posteriorly rotated ears 7.5% Macrotia 7.5% Short distal phalanx of finger 7.5% Split hand 7.5% Absent toenail - Amenorrhea - Aplasia/Hypoplasia of the phalanges of the hand - Autosomal recessive inheritance - Fibular aplasia - 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.