Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Mucopolysaccharidosis type IIIC ? 
 What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. 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) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - Variable expressivity - 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 Merlob Grunebaum Reisner syndrome ? 
 What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner 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) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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 Severe achondroplasia with developmental delay and acanthosis nigricans ? 
 What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. 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 sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - 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) Hypomyelination with atrophy of basal ganglia and cerebellum ? 
 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain.  Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.  These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better.  Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum.  H-ABC is is caused by a mutation in the TUBB4A gene.
What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ? 
 What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual 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 causes Hypomyelination with atrophy of basal ganglia and cerebellum ? 
 What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.
How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ? 
 How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain.  When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain.  Myelin usually forms a protective covering around brain cells.  In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.
What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ? 
 How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.  Another patient showed improvement in movement symptoms after taking folinic acid supplements.
What are the symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome ? 
 What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation 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) Generalized osteoporosis - Hypopigmentation of the skin - Ocular albinism - 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) Vein of Galen aneurysm ? 
 Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development.
What are the symptoms of Vein of Galen aneurysm ? 
 What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. 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 cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% 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) Potocki-Shaffer syndrome ? 
 Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended.
What are the symptoms of Potocki-Shaffer syndrome ? 
 What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present:  Enlarged parietal foramina  Multiple exostoses  Intellectual disability  Developmental delay  Failure to thrive  Autism  Behavioral problems  Deafness  Myopia (nearsightedness)  Nystagmus  Cataract  Strabismus  Aniridia  Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)  Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn.  The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - 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 treatments for Potocki-Shaffer syndrome ? 
 How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;  Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.  Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant.
What are the symptoms of Monomelic amyotrophy ? 
 What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb 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.