Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories. Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment. There are two main types of clinical studies: Clinical studies are medical research involving people as participants. Observational studies involve recording changes over time among a specific group of people in their natural settings.Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.Ĭlinical studies are medical research involving people as participants. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. Mutation is an older term that is still sometimes used to mean pathogenic variant. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs.
CHARGE SYNDROME LIFE SPAN SKIN
Abnormal cranial nerve morphology Abnormality of the inner ear Anosmia Aplasia/Hypoplasia of the earlobes Cryptorchidism Delayed puberty External ear malformation Feeding difficulties in infancy Global developmental delay Hearing impairment Hypogonadotropic hypogonadism Hypoplasia of the semicircular canal Iris coloboma Micropenis Overfolded helix Abnormal aortic valve morphology Abnormal cardiac septum morphology Abnormal morphology of female internal genitalia Abnormal soft palate morphology Abnormality of cardiovascular system morphology Anophthalmia Anterior hypopituitarism Aortic arch aneurysm Attention deficit hyperactivity disorder Autism Bifid scrotum Choanal atresia Chorioretinal coloboma Cleft palate Cleft upper lip Delayed eruption of teeth Depressed nasal bridge Dimple chin Facial asymmetry Facial palsy Gastroesophageal reflux Hypotonia Intellectual disability Interrupted aortic arch Labial hypoplasia Low-set, posteriorly rotated ears Microphthalmia Narrow face Narrow mouth Nystagmus Obsessive-compulsive behavior Optic atrophy Patent ductus arteriosus Polyhydramnios Postnatal growth retardation Ptosis Short stature Strabismus Tetralogy of Fallot Abnormal rib morphology Abnormality of bone mineral density Abnormality of immune system physiology Abnormality of the adrenal glands Abnormality of the eye Abnormality of tibia morphology Abnormality of vision Aplasia/Hypoplasia of the cerebellum Aqueductal stenosis Bifid femur Brachydactyly Clinodactyly of the 5th finger Cranial nerve paralysis Dandy-Walker malformation Epicanthus Eyelid coloboma Hemivertebrae Highly arched eyebrow Holoprosencephaly Horseshoe kidney Hydronephrosis Hypertelorism Hypoplasia of the zygomatic bone Intrauterine growth retardation Lacrimation abnormality Laryngomalacia Microcephaly Microtia Preauricular skin tag Respiratory insufficiency Scoliosis Talipes Tracheoesophageal fistula Vesicoureteral refluxĪutosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes).
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