Druvith/medqa huggingface dataset:
What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? 

What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Edema of the lower limbs 90% Lymphangioma 90% Abnormality of the eye 50% Cutis marmorata 50% Periorbital edema 50% Vaginal hernia 50% Venous insufficiency 50% Abnormality of the peritoneum 7.5% Abnormality of the pleura 7.5% Hydrops fetalis 7.5% Abnormality of the nail - Abnormality of the teeth - Absent eyebrow - Absent eyelashes - Autosomal dominant inheritance - Autosomal recessive inheritance - Hydrocele testis - Hypotrichosis - Nonimmune hydrops fetalis - Palmar telangiectasia - Predominantly lower limb lymphedema - Thin skin - 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 Male pseudohermaphroditism due to defective LH molecule ? 

What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. 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 - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - 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 Microcephaly-albinism-digital anomalies syndrome ? 

What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies 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) Aplasia/Hypoplasia of the distal phalanges of the toes 90% Cognitive impairment 90% Generalized hypopigmentation 90% Microcephaly 90% Ocular albinism 90% Short distal phalanx of finger 90% 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) Waardenburg syndrome ? 

Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.
What are the symptoms of Waardenburg syndrome ? 

What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg 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 facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia of the colon 7.5% Cleft palate 7.5% Cleft upper lip 7.5% Intestinal obstruction 7.5% Meningocele 7.5% Myelomeningocele 7.5% Oral cleft 7.5% Ptosis 7.5% Scoliosis 7.5% Sprengel anomaly 7.5% Strabismus 7.5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - 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.
How to diagnose Waardenburg syndrome ? 

How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum  lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or "unibrow") or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).
What is (are) ADNP syndrome ? 

ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]
What are the symptoms of ADNP syndrome ? 

What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP 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 cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - 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 is (are) Marshall-Smith syndrome ? 

Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.
What is (are) Histiocytosis-lymphadenopathy plus syndrome ? 

Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or FSHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary, even within the same family. All of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune system cells called histiocytes. These cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. The spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. H syndrome is named for the collection of symptoms - all starting with the letter H - that are commonly present. These include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). In some cases, hyperglycemia/diabetes mellitus may also be present. PHID is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. Faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. Affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. Familial Rosai-Dorfman disease is characterized by lymphadenopathy, most often in the neck. Histiocytes can also accumulate in other parts of the body. Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene. The condition is inherited in an autosomal recessive pattern. Treatment is aimed at treating the symptoms present in each individual.
What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? 

What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus 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) Atria septal defect 5% Cardiomegaly 5% Mitral valve prolapse 5% Retroperitoneal fibrosis 5% Ventricular septal defect 5% Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Diabetes mellitus - Elbow flexion contracture - Episcleritis - Fever - Growth hormone deficiency - Hallux valgus - Hepatomegaly - Histiocytosis - Hypergonadotropic hypogonadism - Lymphadenopathy - Phenotypic variability - Proptosis - Sensorineural hearing impairment - Short stature - Splenomegaly - 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 Acatalasemia ? 

What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. 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 recessive inheritance - Oral ulcer - Reduced catalase activity - 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) Chronic hiccups ? 

Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare cases, may continue for over a month. Hiccups that recur over long periods of time are also considered "chronic." Depending on how long the hiccups last, affected people may become exhausted, dehydrated and/or lose weight due to interruptions in sleep and normal eating patterns. Other complications may include irregular heart beat and gastroesophageal reflux. The exact underlying cause is often unknown; some cases may be caused by surgery, certain medications and/or a variety of health problems such as central nervous system (brain and spinal cord) abnormalities, psychological problems, conditions that irritate the diaphragm, and metabolic diseases. Treatment of chronic hiccups varies but may include medications and/or surgery.
What are the symptoms of Chronic hiccups ? 

What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. 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 movement 90% Functional respiratory abnormality 90% Recurrent singultus 90% Abnormality of temperature regulation 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Dehydration 7.5% Diabetes insipidus 7.5% Neoplasm of the nervous system 7.5% Renal insufficiency 7.5% Sleep disturbance 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 causes Chronic hiccups ? 

What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also be associated with a variety of health problems including: Pneumonia, pleurisy and other conditions that irritate the diaphragm Brain abnormalities (i.e. strokes, tumors, injuries, infections) Metabolic disorders Gastrointestinal (esophagus, stomach, small/large intestines) diseases Psychological problems such as hysteria, shock, fear, and personality disorders Liver abnormalities Kidney disorders For a comprehensive listings of factors that can cause chronic hiccups, please click here.
Is Chronic hiccups inherited ? 

Are chronic hiccups inherited? Chronic hiccups are not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
How to diagnose Chronic hiccups ? 

How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For more information about the workup and diagnosis of chronic hiccups, please click here.