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53 relations: Activin and inhibin, ACVR1, Alkaline phosphatase, Anesthesia, Apoptosis, Arginine, Autosome, Biopsy, Bone morphogenetic protein, Bone morphogenetic protein 4, Cancer, Connective tissue disease, Corticosteroid, Dominance (genetics), Electrical conduction system of the heart, Endothelium, Etidronic acid, European Medicines Agency, Expressivity (genetics), Fibrosis, Fibrous dysplasia of bone, Food and Drug Administration, FOP Friends, Gamete, Genetic code, Harry Raymond Eastlack, Histidine, Incidence (epidemiology), International FOP Association, Intubation, Isotretinoin, Joint, Ligament, Mütter Museum, Medical genetics, Mesenchymal stem cell, Muscle, Mutation, Myositis, Ossification, Osteogenesis imperfecta, Palovarotene, Penetrance, Perhexiline, Philadelphia, Physician, Postzygotic mutation, Protein kinase inhibitor, Restrictive lung disease, Smooth muscle tissue, ..., Tendon, Toe, Victor A. McKusick. Expand index (3 more) »
Activin and inhibin
Activin and inhibin are two closely related protein complexes that have almost directly opposite biological effects.
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ACVR1
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2 (activin receptor-like kinase-2).
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Alkaline phosphatase
Alkaline phosphatase (ALP, ALKP, ALPase, Alk Phos) or basic phosphatase is a homodimeric protein enzyme of 86 kilodaltons.
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Anesthesia
In the practice of medicine (especially surgery and dentistry), anesthesia or anaesthesia (from Greek "without sensation") is a state of temporary induced loss of sensation or awareness.
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Apoptosis
Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.
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Arginine
Arginine (symbol Arg or R) is an α-amino acid that is used in the biosynthesis of proteins.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist involving extraction of sample cells or tissues for examination to determine the presence or extent of a disease.
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Bone morphogenetic protein
Bone morphogenetic proteins (BMPs) are a group of growth factors also known as cytokines and as metabologens.
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Bone morphogenetic protein 4
Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene.
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Cancer
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
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Connective tissue disease
A connective tissue disease is any disease that has the connective tissues of the body as a target of pathology.
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Corticosteroid
Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Electrical conduction system of the heart
The electrical conduction system of the heart transmits signals generated usually by the sinoatrial node to cause contraction of the heart muscle.
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Endothelium
Endothelium refers to cells that line the interior surface of blood vessels and lymphatic vessels, forming an interface between circulating blood or lymph in the lumen and the rest of the vessel wall.
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Etidronic acid
Etidronic acid (INN) or 1-hydroxyethylidene-1,1-diphosphonic acid (HEDP) is a bisphosphonate used in detergents, water treatment, cosmetics and pharmaceutical treatment.
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European Medicines Agency
The European Medicines Agency (EMA) is a European Union agency for the evaluation of medicinal products.
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Expressivity (genetics)
In genetics, expressivity quantifies variation in a non-binary phenotype across individuals carrying a particular genotype.
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Fibrosis
Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process.
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Fibrous dysplasia of bone
Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion.
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Food and Drug Administration
The Food and Drug Administration (FDA or USFDA) is a federal agency of the United States Department of Health and Human Services, one of the United States federal executive departments.
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FOP Friends
FOP Friends, formerly Friends of Oliver, is a registered charity in the United Kingdom established on 1 March 2012.
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Gamete
A gamete (from Ancient Greek γαμετή gamete from gamein "to marry") is a haploid cell that fuses with another haploid cell during fertilization (conception) in organisms that sexually reproduce.
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Genetic code
The genetic code is the set of rules used by living cells to translate information encoded within genetic material (DNA or mRNA sequences) into proteins.
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Harry Raymond Eastlack
Harry Raymond Eastlack, Jr. (1933–1973) suffered from fibrodysplasia ossificans progressiva (FOP), a rare and poorly understood disease in which the bone repair mechanism runs out of control, turning other tissue like muscles and tendons into bone.
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Histidine
Histidine (symbol His or H) is an α-amino acid that is used in the biosynthesis of proteins.
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Incidence (epidemiology)
Incidence in epidemiology is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time.
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International FOP Association
The International Fibrodysplasia Ossificans Progressiva Association (IFOPA) is a US-based 501(c)(3) non-profit organization supporting medical research, education and communication for those afflicted by the rare genetic condition Fibrodysplasia Ossificans Progressiva (FOP).
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Intubation
Intubation (sometimes entubation) is a medical procedure involving the insertion of a tube into the body.
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Isotretinoin
Isotretinoin, also known as 13-cis-retinoic acid (and colloquially referred to by its former brand name Accutane or Roaccutane), is a medication primarily used to treat severe acne.
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Joint
A joint or articulation (or articular surface) is the connection made between bones in the body which link the skeletal system into a functional whole.
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Ligament
A ligament is the fibrous connective tissue that connects bones to other bones.
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Mütter Museum
The Mütter Museum is a medical museum located in the Center City area of Philadelphia, Pennsylvania.
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Medical genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.
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Mesenchymal stem cell
Mesenchymal stem cells are multipotent stromal cells that can differentiate into a variety of cell types, including osteoblasts (bone cells), chondrocytes (cartilage cells), myocytes (muscle cells) and adipocytes (fat cells which give rise to marrow adipose tissue).
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Muscle
Muscle is a soft tissue found in most animals.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Myositis
Myositis is inflammation or swelling of the muscles.
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Ossification
Ossification (or osteogenesis) in bone remodeling is the process of laying down new bone material by cells called osteoblasts.
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Osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.
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Palovarotene
Palovarotene is a highly selective retinoic acid receptor gamma (RAR-γ) agonist that is under investigation as a potential treatment for fibrodysplasia ossificans progressiva (FOP), an ultra-rare and severely disabling genetic disease characterized by extra-skeletal bone formation (heterotopic ossification or HO) in muscle and soft tissues.
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype).
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Perhexiline
Perhexiline (Pexsig) is a prophylactic antianginal agent used primarily in Australia and New Zealand.
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Philadelphia
Philadelphia is the largest city in the U.S. state and Commonwealth of Pennsylvania, and the sixth-most populous U.S. city, with a 2017 census-estimated population of 1,580,863.
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Physician
A physician, medical practitioner, medical doctor, or simply doctor is a professional who practises medicine, which is concerned with promoting, maintaining, or restoring health through the study, diagnosis, and treatment of disease, injury, and other physical and mental impairments.
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Postzygotic mutation
A post- zygotic mutation is a change in an organism's genome that is acquired during its lifespan, instead of being inherited from its parent(s) through fusion of two haploid gametes.
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Protein kinase inhibitor
A protein kinase inhibitor is a type of enzyme inhibitor that blocks the action of one or more protein kinases.
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Restrictive lung disease
Restrictive lung diseases (or restrictive ventilatory defects) are a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation.
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Smooth muscle tissue
Smooth muscle is an involuntary non-striated muscle.
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Tendon
A tendon or sinew is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension.
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Toe
Toes are the digits of the foot of a tetrapod.
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Victor A. McKusick
Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore.
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Redirects here:
Fibrodysplasia Ossificans Progressiva, Fibrodysplasia ossificans progessiva FOP, Stone man syndrome, Stoneman disease, Stoneman's Disease.
References
[1] https://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
