Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Severe congenital neutropenia autosomal recessive 3 ? 
 What are the signs and symptoms of Severe congenital neutropenia autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal recessive 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Seizures 5% Autosomal recessive inheritance - Infantile onset - Leukemia - Myelodysplasia - Neutropenia - Recurrent bacterial infections - 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) ADCY5-related dyskinesia ? 
 ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5-related dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.
What are the symptoms of ADCY5-related dyskinesia ? 
 What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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) Congestive heart failure 5% Dilated cardiomyopathy 5% Hyperreflexia 5% Motor delay 5% Muscular hypotonia of the trunk 5% Resting tremor 5% Anxiety - Autosomal dominant inheritance - Chorea - Dysarthria - Dyskinesia - Dystonia - Facial myokymia - Juvenile onset - Limb hypertonia - 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) Michelin tire baby syndrome ? 
 Michelin tire baby syndrome (MTBS) is a rare skin condition that consists of many, symmetrical skin folds found on the arms and legs of an affected individual at birth (congenital).  The skin folds do not cause any problems or impairments and usually disappear naturally as the child grows.  MTBS may be associated with other signs, such as unusual facial features or delays in development; these other features are different for each affected individual.  The exact cause of MTBS is unknown.  It has been suggested that MTBS might have a genetic cause, because there are reports of multiple affected members of the same family.
What are the symptoms of Michelin tire baby syndrome ? 
 What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - 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) 21-hydroxylase deficiency ? 
 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.
What causes 21-hydroxylase deficiency ? 
 What causes salt-wasting, simple virilizing, and nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia? Salt-wasting, simple virilizing, and late-onset 21-hydroxylase deficiency are all caused by mutations in the human 21-hydroxylase gene (CYP21A2).
Is 21-hydroxylase deficiency inherited ? 
 How is 21-hydroxylase-deficient congenital adrenal hyperplasia passed through families? 21-hydroxylase-deficient congenital adrenal hyperplasia has an autosomal recessive pattern of inheritance. In autosomal recessive conditions, both parents carry one copy of a mutated gene for the disorder. They have a 25 percent chance with each pregnancy of having a child affected by the disorder. The chance with each pregnancy of having an unaffected child who is a carrier of the disorder is 50 percent, and the chance that a child will not have the disorder and will not be a carrier is 25 percent. See the illustration below.
How to diagnose 21-hydroxylase deficiency ? 
 Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of laboratories offering CYP21A2 testing.
What are the treatments for 21-hydroxylase deficiency ? 
 What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia. In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities. Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency.
What are the symptoms of Familial hypocalciuric hypercalcemia type 3 ? 
 What are the signs and symptoms of Familial hypocalciuric hypercalcemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypocalciuric hypercalcemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nephrolithiasis 5% Peptic ulcer 5% Chondrocalcinosis - Hypercalcemia - Hypermagnesemia - Hypocalciuria - Multiple lipomas - Pancreatitis - Parathormone-independent increased renal tubular calcium reabsorption - Primary hyperparathyroidism - 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 X-linked thrombocytopenia ? 
 What are the signs and symptoms of X-linked thrombocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked thrombocytopenia. 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 musculature - Bruising susceptibility - Congenital thrombocytopenia - Decreased mean platelet volume - Eczema - Epistaxis - Increased IgA level - Increased IgE level - Intermittent thrombocytopenia - Joint hemorrhage - Petechiae - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Pendred syndrome ? 
 Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.
What are the symptoms of Pendred syndrome ? 
 What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - 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.
Is Pendred syndrome inherited ? 
 How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited from each parent; the parents are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition. Pendred syndrome can be caused either by having mutations in both copies of the SLC26A4 gene (more commonly), or by having one mutation in the SLC26A4 gene and one mutation in another gene.
What are the symptoms of Quebec platelet disorder ? 
 What are the signs and symptoms of Quebec platelet disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Quebec platelet disorder. 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 - Bruising susceptibility - Epistaxis - Impaired epinephrine-induced platelet aggregation - Joint hemorrhage - Menorrhagia - Thrombocytopenia - 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) Methylmalonic acidemia with homocystinuria, type cblC ? 
 Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.
What is (are) Craniopharyngioma ? 
 A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Craniopharyngiomas are thought to arise from remnants of the craniopharyngeal duct and/or Rathke cleft or from metaplasia (abnormal transformation of cells) of squamous epithelial cell remnants of the stomadeum.[orphanet] Craniopharyngioma is treated with surgery alone or by surgery followed by radiation.
What are the symptoms of Craniopharyngioma ? 
 What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. Damage to the pituitary gland causes hormone imbalances that can lead to excessive thirst and urination (diabetes insipidus) and stunted growth. When the optic nerve is damaged by the tumor, vision problems develop. These defects are often permanent, and may be worse after surgery to remove the tumor. Most patients have at least some visual defects and evidence of decreased hormone production at the time of diagnosis.
What causes Craniopharyngioma ? 
 What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours).
What are the treatments for Craniopharyngioma ? 
 How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumor has a classic appearance on CT scan, then even a biopsy may not be necessary, if treatment with radiation alone is planned. This tumor is best treated at a center with experience managing craniopharyngiomas.
What are the symptoms of Rhizomelic syndrome ? 
 What are the signs and symptoms of Rhizomelic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic 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 form of the vertebral bodies 90% Abnormal hair quantity 90% Abnormality of epiphysis morphology 90% Abnormality of the elbow 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the knees 90% Abnormality of the pulmonary artery 90% Abnormality of the tongue 90% Acne 90% Brachydactyly syndrome 90% Cognitive impairment 90% Depressed nasal bridge 90% Limb undergrowth 90% Limitation of joint mobility 90% Microcephaly 90% Preaxial hand polydactyly 90% Short distal phalanx of finger 90% Short neck 90% Short stature 90% Triphalangeal thumb 90% Cleft palate 50% Kyphosis 50% Autosomal recessive inheritance - Bifid distal phalanx of the thumb - Complete duplication of thumb phalanx - Hip dislocation - Pulmonic stenosis - Rhizomelia - Wide anterior fontanel - 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.