Hurler syndrome
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Hurler syndrome is an inherited disease that belongs to a group of diseases called mucopolysaccharidoses. Storage of abnormal quantities of this material (mucopolysaccharide) in different body tissues is responsible for the symptoms and appearance of the disease. 000, 1, 150, a, a group, abnormal, absence, activity, addition, adolescence, adulthood, affected, affects, age, also, alternating, amniocentesis, amniotic, amniotic fluid, an, and, appear, appearance, approximately, are, artery, as, associated, at, autosomal, autosomal recessive, autosomal recessive trait, available, be, begin, begins, benefits, birth, blood, body, bone, bone marrow, bone marrow transplant, bone marrow transplantation, bones, breath, but, by, call, called, can, care, causes, cells, characteristic, child, childhood, childhood early, children, claw, claw hand, cloudy, coarse, collection, complications, considering, consists, corneas, coronary, counseling, culture, cultured, damage, damages, dark, death, defect, deficiencies, deficiency, definition, depend, dermatan, dermatan sulfate, determined, develop, diagnosis, diarrhea, different, disease, diseases, early, effects, end, enzyme, enzyme replacement therapy, epicanthal, examined, excretion, expectations, eyebrows, facial, factors, family, family history, features, few, fibroblasts, first, fluid, for, form, from, function, genetic, group, groups, growth, hair, hand, have, having, health, heart, heart valve, heparan, heparan sulfate, hernia, hip, hirsutism, histologic, history, how, hurler, hurler syndrome, i, if, impending, important, improve, improved, in, inability, incidence, includes, including, increased, indicate, individuals, infants, inguinal, inherited, intravenous, is, joint, joints, large, large tongue, late, lips, low, lysosomal, make, many, marrow, material, may, me, medication, mental, mental retardation, metabolic, metachromasia, mobility, mps, mucopolysaccharide, mucopolysaccharidoses, mucopolysaccharidosis, nasal, national, needs, neurologic, newborn, normal, nostrils, now, obtained, obvious, occur, occurs, of, often, on, one, onset, or, org, organ, organ system, organs, other, packard, parents, patients, performed, physical, pigmentation, poor, poor prognosis, positive, possible, prenatal, present, prevent, prevention, probably, problems, prognosis, progressive, prominent, prospective, provider, quantities, recessive, replacement, replacement therapy, reported, responsible, retardation, retinal, risk, scheie, scheie syndrome, seen, short, shortness, side, significant, signs, slowly, some, spine, staining, stiffness, still, storage, study, sulfate, support, symptoms, syndrome, syndromes, system, teens, test, testing, tests, that, the, then, therapy, thick, thickening, this, tissues, to, tolerated, tongue, trait, transplant, transplantation, treatment, treatments, type, umbilical, unknown, urine, valve, valves, very, wedging, well, were, white, with, year, you, young, your |
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Apert syndrome
PR: 0
2nd, 3rd, 401, 4th, acrocephalosyndactyly, adjacent, affected, along, apert, apert syndrome, appearance, are, asymmetric, autosomal, autosomal dominant trait, baby, basis, bone, bony, care, cause, center, clinical, close, closure, complications, confirm, congenital, correct, craniofacial, craniofacial dysostosis, craniosynostosis, crouzon, crouzon disease, definition, deformity, determine, diagnosis, disease, dominant, dysostosis, ear, evaluation, exam, exist, expectations, extent, facial, factor, fibroblast, flexibility, foot, function, fusion, gene, genetic, genetic test, given, growth, hearing, history, incidence, individual, inherited, is, limb, means, medical, mutation, needs, noted, notice, occur, optimize, palate, parent, peaked, pen, premature, prenatal, prevention, prognosis, prospective, provider, receptor, retarded, risk, severe, shape, similar, soft, specialist, spontaneously, spot, surgery, suture, syndactyly, syndrome, test, trait, treatment, unusual, webbing |
Achondroplasia:Help and Information from the UK
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Help and Information about the condition called Achondroplasisa, with in-depth information, pictures of people with the condition and an open forum. achondroplasia, Achondroplasia uk, robpegs, emily styles, robert styles, dwarfism, disproportionate, proximal, fibroblast, rhizomelic, forehead, Eustachian, small people, small bones, achondroplasia uk, Random Dot |
Achondroplasia:Help and Information from the UK
PR: 0
Help and Information about the condition called Achondroplasisa, with in-depth information, pictures of people with the condition and an open forum. achondroplasia, Achondroplasia uk, robpegs, emily styles, robert styles, dwarfism, disproportionate, proximal, fibroblast, rhizomelic, forehead, Eustachian, small people, small bones, achondroplasia uk, Random Dot |