Druvith/medqa huggingface dataset:
What is (are) Chondrodysplasia punctata 2 X-linked dominant ? 

X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition  is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.
What are the symptoms of Chondrodysplasia punctata 2 X-linked dominant ? 

What are the signs and symptoms of Chondrodysplasia punctata 2 X-linked dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 2 X-linked dominant. 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 joint morphology 90% Abnormality of the fingernails 90% Asymmetric growth 90% Epicanthus 90% Ichthyosis 90% Kyphosis 90% Ptosis 90% Short stature 90% Optic atrophy 50% Abnormal form of the vertebral bodies 7.5% Abnormality of hair texture 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the skin 7.5% Cataract 7.5% Clinodactyly of the 5th finger 7.5% Foot polydactyly 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Limb undergrowth 7.5% Malar flattening 7.5% Microcornea 7.5% Sensorineural hearing impairment 7.5% Talipes 7.5% Postaxial polydactyly 5% Abnormality of pelvic girdle bone morphology - Abnormality of the pinna - Abnormality of the thorax - Alopecia - Bilateral talipes equinovarus - Concave nasal ridge - Congenital ichthyosiform erythroderma - Congenital onset - Dandy-Walker malformation - Edema - Elevated 8(9)-cholestenol - Elevated 8-dehydrocholesterol - Epiphyseal stippling - Erythroderma - Failure to thrive - Flat face - Glaucoma - Hearing impairment - Hemiatrophy - Hemivertebrae - Hydronephrosis - Intellectual disability, moderate - Microphthalmia - Nystagmus - Patellar dislocation - Polyhydramnios - Postnatal growth retardation - Punctate vertebral calcifications - Scoliosis - Short neck - Sparse eyebrow - Sparse eyelashes - Stippled calcification in carpal bones - Tarsal stippling - Tracheal calcification - Tracheal stenosis - Variable expressivity - X-linked dominant 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 Chromosome 6q25 microdeletion syndrome ? 

What are the signs and symptoms of Chromosome 6q25 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 6q25 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% Microcephaly 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the corpus callosum 50% Epicanthus 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Plagiocephaly 50% Short stature 50% Wide nasal bridge 50% Abnormality of the genital system 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Hypertonia 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Rocker bottom foot 7.5% Seizures 7.5% Upslanted palpebral fissure 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Oculocutaneous albinism type 2 ? 

Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.
What are the symptoms of Oculocutaneous albinism type 2 ? 

What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 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) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - 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 Ceroid lipofuscinosis neuronal 1 ? 

What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - 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) Meesmann corneal dystrophy ? 

Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane.  Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.
What are the symptoms of Meesmann corneal dystrophy ? 

What are the signs and symptoms of Meesmann corneal dystrophy? Patients are usually asymptomatic until adulthood when rupture of the tiny cysts on the cornea cause recurrent erosions. Symptoms may include light sensitivity, contact lens intolerance, redness, pain, and occasionally blurred vision (i.e., irregular corneal astigmatism). Some people with Meesman corneal dystrophy experience no symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Meesmann corneal dystrophy. 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 - Corneal dystrophy - Nonprogressive - Punctate opacification of the cornea - 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 Meesmann corneal dystrophy ? 

What causes Meesmann corneal dystrophy? Meesmann corneal dystrophy is a genetic disease. It can be caused by mutations in either the KRT12 or KRT3 gene. These genes are thought to play an important role in maintaining normal corneal epithelial function. Meesmann corneal dystrophy is passed through families in an autosomal dominant fashion.
What are the treatments for Meesmann corneal dystrophy ? 

How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy.
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A ? 

What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type A. 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) Areflexia - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal sensory impairment - Foot dorsiflexor weakness - Hyporeflexia - Muscle cramps - Onion bulb formation - Onset - Pes cavus - Segmental peripheral demyelination - Segmental peripheral demyelination/remyelination - 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 is (are) Complex regional pain syndrome ? 

Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time and often spreads throughout the entire affected area. Other symptoms may include color and temperature changes of the skin over the affected area; skin sensitivity; sweating; and swelling. The underlying cause of CRPS is often not known. Two classifications of CRPS have been recognized based on causalgia. Type I (also known as reflex sympathetic dystrophy), in which there is no evidence of peripheral nerve injury and Type II, in which peripheral nerve injury is present. Treatment aims to relieve pain and often includes different interventions such as topical or oral medications; physical therapy; and/or a sympathetic nerve block.
What are the symptoms of Complex regional pain syndrome ? 

What are the signs and symptoms of complex regional pain syndrome? Complex regional pain syndrome (CRPS) usually develops after an injury, surgery, stroke or heart attack. The key symptom of CRPS is continuous, intense pain that is out of proportion to the severity of the injury. The pain gets worse over time. CRPS most often affects one of the arms, legs, hands, or feet, and the pain often spreads throughout the entire affected arm or leg. Other signs and symptoms may include: sensitivity to touch or cold swelling of the painful area changes in skin temperature, color, and/or texture joint stiffness and swelling muscle weakness and/or muscle spasms Symptoms may change over time and vary from person to person. In some people, signs and symptoms of go away on their own. In others, symptoms can persist for months to years.
What causes Complex regional pain syndrome ? 

What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). The exact trigger of CRPS after an injury is not known, but it may be due to abnormal interactions between the central and peripheral nervous systems, and/or inappropriate inflammatory responses.
What are the treatments for Complex regional pain syndrome ? 

How might complex regional pain syndrome be treated? There is no known cure for complex regional pain syndrome (CRPS). Treatment includes a multidisciplinary approach with the aim of controlling pain symptoms. It has been suggested that when treatment is started within a few months of when symptoms begin, improvement or remission may be possible. A combination of therapies is usually necessary including medications, physical and occupational therapy, interventional procedures, and psychosocial/behavioral management. Medications used to treat CRPS may include:oral and topical pain relievers; antidepressants or anticonvulsants (which are sometimes used to treat pain); corticosteroids; bone-loss medications; sympathetic nerve-blocking medications; intravenous anesthetics (Ketamine), and/or intravenous immunoglobulin (IVIG). Other therapies used may include applying heat or cold; electrical nerve stimulation; and biofeedback. Interventional procedures may include: trigger/tender point injections; regional sympathetic nerve block; spinal cord stimulation; epiduralclonidine; and chemical or mechanical sympathectomy. Unfortunately, published research studies validating the efficacy of these treatment options are limited and no single drug or therapy (or combination) has shown consistent, long-lasting improvement among affected people. For more information on treatment options for CRPS, click on the following link from the Reflex Sympathetic Dystrophy Association of America (RSDSA) http://rsds.org/treatment or the following link on chronic pain through the National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/chronic_pain/detail_chronic_pain.htm
What are the symptoms of Kapur Toriello syndrome ? 

What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 nasal morphology 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - 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) Gaucher disease ? 

Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.