fenil210/Med-Lamma huggingface dataset:
What are the symptoms of COACH syndrome ?
What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH 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 cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - 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. + GARD + COACH syndrome
How to diagnose COACH syndrome ?
How is COACH syndrome diagnosed? While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis). + GARD + COACH syndrome
What is (are) Hypotrichosis simplex ?
Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition. + GARD + Hypotrichosis simplex
What are the symptoms of Hypotrichosis simplex ?
What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. 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) Hypotrichosis 100% Abnormality of the eyelashes 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Congenital, generalized hypertrichosis 50% Woolly hair 50% Hyperkeratosis 7.5% Pruritus 7.5% Autosomal dominant inheritance - Autosomal 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. + GARD + Hypotrichosis simplex
What are the treatments for Hypotrichosis simplex ?
Is there treatment for hypotrichosis simplex? Is there hope for hair growth in the future? Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals. There is currently no treatment for hypotrichosis simplex. + GARD + Hypotrichosis simplex
What are the symptoms of Loose anagen hair syndrome ?
What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair 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 hair whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse hair - 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. + GARD + Loose anagen hair syndrome
What are the symptoms of Cleft hand absent tibia ?
What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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) Split hand 90% Abnormality of the tibia 50% Limitation of joint mobility 50% Abnormality of the femur 7.5% Abnormality of the fibula 7.5% Abnormality of the ulna 7.5% Brachydactyly syndrome 7.5% Finger syndactyly 7.5% Omphalocele 7.5% Overfolded helix 7.5% Patellar aplasia 7.5% Popliteal pterygium 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Absent forearm - Absent tibia - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cupped ear - Monodactyly (hands) - Short hallux - Split foot - 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. + GARD + Cleft hand absent tibia
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. + GARD + Chronic hiccups
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. + GARD + Chronic hiccups
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. + GARD + Chronic hiccups
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. + GARD + Chronic hiccups
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. + GARD + Chronic hiccups
What are the treatments for Chronic hiccups ?
How might chronic hiccups be treated? Treatment for chronic hiccups often varies based on the underlying cause. In many cases, medications can be prescribed to treat chronic hiccups. These may include: Tranquilizers such as chlorpromazine and haloperidol  Muscle relaxants Anticonvulsant agents including phenytoin, valproic acid, and carbamazepine Sedatives Pain medications Stimulants Rarely, medications may not be effective in the treatment of chronic hiccups. In these cases, surgery to temporarily or permanently block the phrenic nerve may be performed. The phrenic nerve controls the diaphragm. + GARD + Chronic hiccups
What is (are) Joubert syndrome ?
Joubert syndrome is disorder of abnormal brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). This gives a characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include weak muscle tone (hypotonia); abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. Joubert syndrome may be caused by mutations in any of many genes and is predominantly inherited in an autosomal recessive manner. Rarely it may be inherited in an X-linked recessive manner. Treatment is supportive and depends on the symptoms in each person. + GARD + Joubert syndrome
What are the symptoms of Joubert syndrome ?
What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert 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 cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - 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. + GARD + Joubert syndrome
What causes Joubert syndrome ?
What causes Joubert syndrome? Joubert syndrome and related disorders may be caused by changes (mutations) in any of many genes (some of which are unknown). The proteins made from these genes are either known, or thought, to affect cell structures called cilia. Cilia are projections on the cell surface that play a role in signaling. They are important for many cell types, including neurons, liver cells and kidney cells. Cilia also play a role in the senses such as sight, hearing, and smell. Mutations in the genes responsible for Joubert syndrome and related disorders cause problems with the structure and function of cilia, likely disrupting important signaling pathways during development. However, it is still unclear how specific developmental abnormalities result from these problems. + GARD + Joubert syndrome
Is Joubert syndrome inherited ?
How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers. + GARD + Joubert syndrome
What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?
Blepharophimosis, ptosis and epicanthus inversus syndrome type 1 (BPES I) is a condition, present at birth, that mainly effects the development of the eyelids.  People with this condition have narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), an upward fold of the skin of the lower eyelid near the inner corner of the eye (epicanthus inversus), and an increased distance between the inner corners of the eyes (telecanthus).  Because of these eyelid malformations, the eyelids cannot open fully, and vision may be limited.  Blepharophimosis syndrome type 1 also causes premature ovarian failure (POF).  This condition is caused by mutations in the FOXL2 gene and is inherited in an autosomal dominant pattern. + GARD + Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
What are the symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?
What are the signs and symptoms of Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Blepharophimosis 90% Depressed nasal bridge 90% Epicanthus 90% Ptosis 90% Decreased fertility 50% Lacrimation abnormality 50% Myopia 50% Nystagmus 7.5% Strabismus 7.5% Synophrys 7.5% Abnormality of the breast - Abnormality of the hair - Amenorrhea - Autosomal dominant inheritance - Cupped ear - Epicanthus inversus - Female infertility - High palate - Hypermetropia - Increased circulating gonadotropin level - Microcornea - Microphthalmia - Premature ovarian failure - Telecanthus - 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. + GARD + Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1