fenil210/Med-Lamma huggingface dataset:
What are the symptoms of ITCH E3 ubiquitin ligase deficiency ?
What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. 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) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - 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. + GARD + ITCH E3 ubiquitin ligase deficiency
What is (are) Denys-Drash syndrome ?
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. + GARD + Denys-Drash syndrome
What are the symptoms of Denys-Drash syndrome ?
What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash 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) Male pseudohermaphroditism 90% Nephroblastoma (Wilms tumor) 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Hypertension 50% Gonadal dysgenesis 7.5% Ambiguous genitalia, female - Ambiguous genitalia, male - Autosomal dominant inheritance - Congenital diaphragmatic hernia - Diffuse mesangial sclerosis - Focal segmental glomerulosclerosis - Gonadal tissue inappropriate for external genitalia or chromosomal sex - Ovarian gonadoblastoma - Somatic mutation - Stage 5 chronic kidney disease - True hermaphroditism - 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 + Denys-Drash syndrome
What causes Denys-Drash syndrome ?
What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals. + GARD + Denys-Drash syndrome
Is Denys-Drash syndrome inherited ?
Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. + GARD + Denys-Drash syndrome
What are the symptoms of Total Hypotrichosis, Mari type ?
What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. 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) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse 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. + GARD + Total Hypotrichosis, Mari type
What are the symptoms of Ulna hypoplasia with mental retardation ?
What are the signs and symptoms of Ulna hypoplasia with mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna hypoplasia with mental retardation. 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 fontanelles or cranial sutures 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Cognitive impairment 90% Elbow dislocation 90% Limitation of joint mobility 90% Micromelia 90% Muscular hypotonia 90% Short stature 90% Talipes 90% Ulnar deviation of finger 90% Abnormality of thumb phalanx 50% Preaxial foot polydactyly 50% Absent fingernail - Absent toenail - Autosomal recessive inheritance - Bilateral ulnar hypoplasia - Intellectual disability, profound - Limitation of knee mobility - Limited elbow movement - Talipes equinovarus - 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 + Ulna hypoplasia with mental retardation
What are the symptoms of Dermoids of cornea ?
What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. 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) Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of the pupil 50% Abnormality of the eye - X-linked 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 + Dermoids of cornea
What is (are) Early-onset, autosomal dominant Alzheimer disease ?
Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by changes (mutations) one of three different genes: APP, PSEN1, and PSEN2. The condition is inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person. + GARD + Early-onset, autosomal dominant Alzheimer disease
Is Early-onset, autosomal dominant Alzheimer disease inherited ?
How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Early-onset, autosomal dominant Alzheimer disease
What are the symptoms of Pachygyria, frontotemporal ?
What are the signs and symptoms of Pachygyria, frontotemporal? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria, frontotemporal. 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 - Esotropia - Hypertelorism - Intellectual disability, moderate - Pachygyria - Seizures - Telecanthus - 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 + Pachygyria, frontotemporal
What is (are) Muscle eye brain disease ?
Muscle eye brain disease is a rare form of congenital muscular dystrophy. Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability. People with muscle eye brain disease frequently have additional eye abnormalities, hydrocephalus, and distinctive facial features. This condition is caused by mutations in gene a called POMGNT1, and it is inherited in an autosomal recessive pattern. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. + GARD + Muscle eye brain disease
What are the symptoms of Muscle eye brain disease ?
What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. 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% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - 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 + Muscle eye brain disease
What causes Muscle eye brain disease ?
What causes muscle eye brain disease? Muscle eye brain disease is caused by mutations in the POMGNT1 gene. This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan. Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation. This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body. All of the reported mutations in the POMGNT1 gene result in a complete loss of function of the POMGNT1 protein. The lack of functional POMGNT1 protein disrupts production of alpha dystroglycan. + GARD + Muscle eye brain disease
What is (are) Uncombable hair syndrome ?
Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood. + GARD + Uncombable hair syndrome
What are the symptoms of Uncombable hair syndrome ?
What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat.  In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable 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) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7.5% Autosomal dominant inheritance - Pili canaliculi - Uncombable 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 + Uncombable hair syndrome
What causes Uncombable hair syndrome ?
What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified. + GARD + Uncombable hair syndrome
Is Uncombable hair syndrome inherited ?
Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope. + GARD + Uncombable hair syndrome
How to diagnose Uncombable hair syndrome ?
How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition. + GARD + Uncombable hair syndrome