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<span>Genetic Conditions: D</span>
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<h1>Genetic Conditions: D</h1>
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<p>Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.</p>
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<span class='blue-label'>Other genetic conditions A-Z</span>
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<ul class="alpha-links">
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<li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition/" data-alpha="A">A</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li>
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<li><span class="active">D</span></li>
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<li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
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||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
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||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
|
||
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<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
|
||
|
||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
|
||
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||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
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||
|
||
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||
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||
<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
|
||
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<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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</section>
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<section>
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||
|
||
<ul class="withident breaklist">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
|
||
|
||
<li>D-glycerate dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
|
||
|
||
|
||
<li>DA1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li>
|
||
|
||
|
||
<li>DA2A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome/">Freeman-Sheldon syndrome</a></li>
|
||
|
||
|
||
<li>DA2B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome/">Sheldon-Hall syndrome</a></li>
|
||
|
||
|
||
<li>DA9, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
|
||
|
||
|
||
<li>Dacryosialoadenopathia atrophicans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sjogren-syndrome/">Sjögren syndrome</a></li>
|
||
|
||
|
||
<li>DACS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>DADA2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li>
|
||
|
||
|
||
<li>Dandy-Walker complex, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li>Dandy-Walker cyst, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li>Dandy-Walker deformity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
<li>Dandy-Walker syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/danon-disease/">Danon disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/darier-disease/">Darier disease</a></li>
|
||
|
||
<li>Darier's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/darier-disease/">Darier disease</a></li>
|
||
|
||
|
||
<li>Darier-Ferrand tumor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/">Dermatofibrosarcoma protuberans</a></li>
|
||
|
||
|
||
<li>Darier-Hoffmann tumor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/">Dermatofibrosarcoma protuberans</a></li>
|
||
|
||
|
||
<li>Darier-White disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/darier-disease/">Darier disease</a></li>
|
||
|
||
|
||
<li>Dark dot disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dowling-degos-disease/">Dowling-Degos disease</a></li>
|
||
|
||
|
||
<li>DAT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer's disease</a></li>
|
||
|
||
|
||
<li>Davidson disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/">Microvillus inclusion disease</a></li>
|
||
|
||
|
||
<li>DBA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>DBH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/">Dopamine beta-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>DBMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/">Duchenne and Becker muscular dystrophy</a></li>
|
||
|
||
|
||
<li>DBP deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
|
||
|
||
|
||
<li>DBS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/">Donnai-Barrow syndrome</a></li>
|
||
|
||
|
||
<li>DBS/FOAR syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/">Donnai-Barrow syndrome</a></li>
|
||
|
||
|
||
<li>DC syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia/">Subcortical band heterotopia</a></li>
|
||
|
||
|
||
<li>DCD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia/">Terminal osseous dysplasia</a></li>
|
||
|
||
|
||
<li>DCMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/">Dilated cardiomyopathy with ataxia syndrome</a></li>
|
||
|
||
|
||
<li>DCMA syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/">Dilated cardiomyopathy with ataxia syndrome</a></li>
|
||
|
||
|
||
<li>DCO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis/">Léri-Weill dyschondrosteosis</a></li>
|
||
|
||
|
||
<li>DCS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
|
||
<li>DDC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/">Aromatic l-amino acid decarboxylase deficiency</a></li>
|
||
|
||
|
||
<li>DDD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dowling-degos-disease/">Dowling-Degos disease</a></li>
|
||
|
||
|
||
<li>DDD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
|
||
<li>DDD/MPGNII, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
|
||
<li>DDPAC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/frontotemporal-dementia-with-parkinsonism-17/">Frontotemporal dementia with parkinsonism-17</a></li>
|
||
|
||
|
||
<li>DDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/denys-drash-syndrome/">Denys-Drash syndrome</a></li>
|
||
|
||
|
||
<li>DDU, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vibratory-urticaria/">Vibratory urticaria</a></li>
|
||
|
||
|
||
<li>De la Chapelle dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li>
|
||
|
||
|
||
<li>De Lange syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/">Cornelia de Lange syndrome</a></li>
|
||
|
||
|
||
<li>De Morsier syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/septo-optic-dysplasia/">Septo-optic dysplasia</a></li>
|
||
|
||
|
||
<li>De Toni-Caffey disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caffey-disease/">Caffey disease</a></li>
|
||
|
||
|
||
<li>De Vivo disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome/">GLUT1 deficiency syndrome</a></li>
|
||
|
||
|
||
<li>Deafness and myopia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/">Deafness and myopia syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/">Deafness and myopia syndrome</a></li>
|
||
|
||
<li>Deafness and pili torti, Bjornstad type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bjornstad-syndrome/">Björnstad syndrome</a></li>
|
||
|
||
|
||
<li>Deafness due to old age, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li>
|
||
|
||
|
||
<li>Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-dystonia-optic-neuronopathy-syndrome/">Deafness-dystonia-optic neuronopathy syndrome</a></li>
|
||
|
||
|
||
<li>Deafness with goiter, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pendred-syndrome/">Pendred syndrome</a></li>
|
||
|
||
|
||
<li>Deafness with LAMM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia/">Congenital deafness with labyrinthine aplasia, microtia, and microdontia</a></li>
|
||
|
||
|
||
<li>Deafness, cochlear, plus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/">Deafness and myopia syndrome</a></li>
|
||
|
||
|
||
<li>Deafness, congenital, and functional heart disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li>
|
||
|
||
|
||
<li>Deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li>Deafness-dystonia-optic atrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-dystonia-optic-neuronopathy-syndrome/">Deafness-dystonia-optic neuronopathy syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/deafness-dystonia-optic-neuronopathy-syndrome/">Deafness-dystonia-optic neuronopathy syndrome</a></li>
|
||
|
||
<li>Deafness-imperforate anus-hypoplastic thumbs syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/townes-brocks-syndrome/">Townes-Brocks Syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome/">Deafness-infertility syndrome</a></li>
|
||
|
||
<li>Deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li>Deafness-onychoosteodystrophy-intellectual disability syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li>Deafness-retinitis pigmentosa syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/usher-syndrome/">Usher syndrome</a></li>
|
||
|
||
|
||
<li>DEB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa/">Dystrophic epidermolysis bullosa</a></li>
|
||
|
||
|
||
<li>Debrancher deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/">Glycogen storage disease type III</a></li>
|
||
|
||
|
||
<li>Decorin-associated congenital stromal corneal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>DEE/EE-SWAS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
|
||
|
||
|
||
<li>DEE4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy/">STXBP1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Deep fibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/desmoid-tumor/">Desmoid tumor</a></li>
|
||
|
||
|
||
<li>Defect of enterocyte intrinsic factor receptor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome/">Imerslund-Gräsbeck syndrome</a></li>
|
||
|
||
|
||
<li>Defective color vision, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/color-vision-deficiency/">Color vision deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency mutase phosphoglycerate, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency/">Phosphoglycerate mutase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of 3-hydroxyacyl-CoA dehydrogenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency/">3-hydroxyacyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of 3beta-hydroxysterol delta24-reductase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/desmosterolosis/">Desmosterolosis</a></li>
|
||
|
||
|
||
<li>Deficiency of acyl-CoA dehydrogenase family member 9, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acad9-deficiency/">ACAD9 deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of ADA2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of alkaline phosphatase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypophosphatasia/">Hypophosphatasia</a></li>
|
||
|
||
|
||
<li>Deficiency of alpha-glucosidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
|
||
|
||
|
||
<li>Deficiency of alpha-mannosidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li>
|
||
|
||
|
||
<li>Deficiency of beta-ureidopropionase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency/">Beta-ureidopropionase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of butyryl-CoA dehydrogenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/short-chain-acyl-coa-dehydrogenase-deficiency/">Short-chain acyl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of butyrylcholine esterase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/">Pseudocholinesterase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of cathepsin A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/galactosialidosis/">Galactosialidosis</a></li>
|
||
|
||
|
||
<li>Deficiency of cytochrome-b5 reductase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
|
||
|
||
|
||
<li>Deficiency of factor XIII, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-xiii-deficiency/">Factor XIII deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of ferroxidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aceruloplasminemia/">Aceruloplasminemia</a></li>
|
||
|
||
|
||
<li>Deficiency of glucose-6-phosphate dehydrogenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glucose-6-phosphate-dehydrogenase-deficiency/">Glucose-6-phosphate dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of glutathione synthase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of glutathione synthetase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of glycoprotein complex IIb-IIIa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia/">Glanzmann thrombasthenia</a></li>
|
||
|
||
|
||
<li>Deficiency of guanidinoacetate methyltransferase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency/">Guanidinoacetate methyltransferase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of guanine phosphoribosyltransferase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
|
||
|
||
|
||
<li>Deficiency of hydroxymethylglutaryl-CoA lyase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency/">3-hydroxy-3-methylglutaryl-CoA lyase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of hypoxanthine phosphoribosyltransferase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
|
||
|
||
|
||
<li>Deficiency of isobutyryl-CoA dehydrogenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isobutyryl-coa-dehydrogenase-deficiency/">Isobutyryl-CoA dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of lactate dehydrogenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lactate-dehydrogenase-deficiency/">Lactate dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of luteinizing hormone-releasing hormone with ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome/">Gordon Holmes syndrome</a></li>
|
||
|
||
|
||
<li>Deficiency of malonyl-CoA decarboxylase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/malonyl-coa-decarboxylase-deficiency/">Malonyl-CoA decarboxylase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of methionine adenosyltransferase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypermethioninemia/">Hypermethioninemia</a></li>
|
||
|
||
|
||
<li>Deficiency of methylcrotonoyl-CoA carboxylase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency/">3-methylcrotonyl-CoA carboxylase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of molybdenum cofactor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency/">Molybdenum cofactor deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of monoamine oxidase A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/monoamine-oxidase-a-deficiency/">Monoamine oxidase A deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of N-acetylglucosamine-phosphate mutase 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Deficiency of N-glycanase 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation/">NGLY1-congenital disorder of deglycosylation</a></li>
|
||
|
||
|
||
<li>Deficiency of phosphoglucomutase 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Deficiency of phosphotriose isomerase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triosephosphate-isomerase-deficiency/">Triosephosphate isomerase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of platelet fibrinogen receptor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia/">Glanzmann thrombasthenia</a></li>
|
||
|
||
|
||
<li>Deficiency of platelet glycoprotein 1b, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome/">Bernard-Soulier syndrome</a></li>
|
||
|
||
|
||
<li>Deficiency of steroid 11-beta-monooxygenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of steroid 17-alpha-monooxygenase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-alpha-hydroxylase-17-20-lyase-deficiency/">17 alpha-hydroxylase/17,20-lyase deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of the aminoacylase-1 enzyme, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/">Aminoacylase 1 deficiency</a></li>
|
||
|
||
|
||
<li>Deficiency of the interleukin-36 receptor antagonist, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/">Generalized pustular psoriasis</a></li>
|
||
|
||
|
||
<li>Deficiency, Laki-Lorand factor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-xiii-deficiency/">Factor XIII deficiency</a></li>
|
||
|
||
|
||
<li>Deficient alpha granule syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gray-platelet-syndrome/">Gray platelet syndrome</a></li>
|
||
|
||
|
||
<li>Degenerative joint disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li>
|
||
|
||
|
||
<li>Degenerative polyarthritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li>
|
||
|
||
|
||
<li>Degenerative retinoschisis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis/">X-linked juvenile retinoschisis</a></li>
|
||
|
||
|
||
<li>Del(18q) syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Del(18q) syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Del(3p) syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>Del(4p) syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 17p syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/">Smith-Magenis syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 17q12, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome/">17q12 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 22q11.2 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 22q13 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/">22q13.3 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 22q13.3 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/">22q13.3 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 2q37, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Deletion 3p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>Dementia of the Lewy body type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies/">Dementia with Lewy bodies</a></li>
|
||
|
||
|
||
<li>Dementia praecox, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schizophrenia/">Schizophrenia</a></li>
|
||
|
||
|
||
<li>Dementia with amyotrophic lateral sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies/">Dementia with Lewy bodies</a></li>
|
||
|
||
<li>Dementia, Lewy body, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies/">Dementia with Lewy bodies</a></li>
|
||
|
||
|
||
<li>Demyelinogenic leukodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
|
||
|
||
|
||
<li>Dense deposit disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dent-disease/">Dent disease</a></li>
|
||
|
||
<li>Dent's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dent-disease/">Dent disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/">Dentatorubral-pallidoluysian atrophy</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/">Dentinogenesis imperfecta</a></li>
|
||
|
||
<li>Dento-osseous dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/">Cleidocranial dysplasia</a></li>
|
||
|
||
|
||
<li>Dentoleukoencephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
|
||
|
||
|
||
<li>Dents disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dent-disease/">Dent disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/denys-drash-syndrome/">Denys-Drash syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency/">Deoxyguanosine kinase deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/depression/">Depression</a></li>
|
||
|
||
<li>Depression in a seasonal pattern, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/seasonal-affective-disorder/">Seasonal affective disorder</a></li>
|
||
|
||
|
||
<li>Depression, bipolar, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bipolar-disorder/">Bipolar disorder</a></li>
|
||
|
||
|
||
<li>Depression; seasonal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/seasonal-affective-disorder/">Seasonal affective disorder</a></li>
|
||
|
||
|
||
<li>Depressive disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/depression/">Depression</a></li>
|
||
|
||
|
||
<li>Der(22) syndrome due to 3:1 meiotic disjunction events, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/emanuel-syndrome/">Emanuel syndrome</a></li>
|
||
|
||
|
||
<li>Dercum disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
|
||
|
||
|
||
<li>Dercum's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
|
||
|
||
|
||
<li>Dercum-Vitaut syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
|
||
|
||
|
||
<li>Dermatofibrosarcoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/">Dermatofibrosarcoma protuberans</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/">Dermatofibrosarcoma protuberans</a></li>
|
||
|
||
<li>Dermatofibrosis disseminata lenticularis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome/">Buschke-Ollendorff syndrome</a></li>
|
||
|
||
|
||
<li>Dermatofibrosis lenticularis disseminata, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome/">Buschke-Ollendorff syndrome</a></li>
|
||
|
||
|
||
<li>Dermatofibrosis lenticularis disseminata with osteopoikilosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome/">Buschke-Ollendorff syndrome</a></li>
|
||
|
||
|
||
<li>Dermatofibrosis, disseminated, with osteopoikilosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome/">Buschke-Ollendorff syndrome</a></li>
|
||
|
||
|
||
<li>Dermatolysis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cutis-laxa/">Cutis laxa</a></li>
|
||
|
||
|
||
<li>Dermatomegaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cutis-laxa/">Cutis laxa</a></li>
|
||
|
||
|
||
<li>Dermatoosteopoikilosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/buschke-ollendorff-syndrome/">Buschke-Ollendorff syndrome</a></li>
|
||
|
||
|
||
<li>Dermodistortive urticaria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vibratory-urticaria/">Vibratory urticaria</a></li>
|
||
|
||
|
||
<li>DES-VLDLR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>DeSanctis-Cacchione syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/xeroderma-pigmentosum/">Xeroderma pigmentosum</a></li>
|
||
|
||
|
||
<li>Desmoid fibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/desmoid-tumor/">Desmoid tumor</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/desmoid-tumor/">Desmoid tumor</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/desmosterolosis/">Desmosterolosis</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1/">Developmental and epileptic encephalopathy 1</a></li>
|
||
|
||
<li>Developmental and epileptic encephalopathy 4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy/">STXBP1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Developmental and epileptic encephalopathy, type 4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy/">STXBP1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Developmental and/or epileptic encephalopathy with spike-wave activation in Sleep, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
|
||
|
||
|
||
<li>Developmental delay-facial dysmorphism syndrome due to MED13L deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li>
|
||
|
||
|
||
<li>Devic disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neuromyelitis-optica/">Neuromyelitis optica</a></li>
|
||
|
||
|
||
<li>Devic neuromyelitis optica, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neuromyelitis-optica/">Neuromyelitis optica</a></li>
|
||
|
||
|
||
<li>Devic syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neuromyelitis-optica/">Neuromyelitis optica</a></li>
|
||
|
||
|
||
<li>Devic's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neuromyelitis-optica/">Neuromyelitis optica</a></li>
|
||
|
||
|
||
<li>DFNMYP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome/">Deafness and myopia syndrome</a></li>
|
||
|
||
|
||
<li>DFSP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/">Dermatofibrosarcoma protuberans</a></li>
|
||
|
||
|
||
<li>DGI, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dentinogenesis-imperfecta/">Dentinogenesis imperfecta</a></li>
|
||
|
||
|
||
<li>DGSX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/simpson-golabi-behmel-syndrome/">Simpson-Golabi-Behmel syndrome</a></li>
|
||
|
||
|
||
<li>DGUOK deficiency , <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency/">Deoxyguanosine kinase deficiency</a></li>
|
||
|
||
|
||
<li>DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency/">Deoxyguanosine kinase deficiency</a></li>
|
||
|
||
|
||
<li>DHA crystalline nephropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li>
|
||
|
||
|
||
<li>DHMN-V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
|
||
<li>DHMN6, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li>
|
||
|
||
|
||
<li>DHTR deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus and mellitus with optic atrophy and deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolfram-syndrome/">Wolfram syndrome</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus renalis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus secondary to vasopressin deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, central, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolfram-syndrome/">Wolfram syndrome</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, nephrogenic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, neurogenic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, neurohypophyseal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Diabetes insipidus, pituitary, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus arising in pregnancy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gestational-diabetes/">Gestational diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">Type 1 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, adult-onset, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, gestational, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gestational-diabetes/">Gestational diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, insulin-dependent, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">Type 1 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, insulin-resistant, with acanthosis nigricans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-a-insulin-resistance-syndrome/">Type A insulin resistance syndrome</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, non-insulin-dependent, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, pregnancy related, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gestational-diabetes/">Gestational diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">Type 1 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, type 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes mellitus, type II, with deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/maternally-inherited-diabetes-and-deafness/">Maternally inherited diabetes and deafness</a></li>
|
||
|
||
|
||
<li>Diabetes, pregnancy-induced, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gestational-diabetes/">Gestational diabetes</a></li>
|
||
|
||
|
||
<li>Diabetes-hypogonadism-deafness-intellectual disability syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/">Woodhouse-Sakati syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
<li>Diaphorase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
|
||
|
||
|
||
<li>Diaphragmatic hernia, abnormal face, and distal limb anomalies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fryns-syndrome/">Fryns syndrome</a></li>
|
||
|
||
|
||
<li>Diaphragmatic hernia-exomphalos-corpus callosum agenesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/">Donnai-Barrow syndrome</a></li>
|
||
|
||
|
||
<li>Diaphragmatic hernia-exomphalos-hypertelorism syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/">Donnai-Barrow syndrome</a></li>
|
||
|
||
|
||
<li>Diaphragmatic spinal muscular atrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li>
|
||
|
||
|
||
<li>Diaphyseal aclasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas/">Hereditary multiple osteochondromas</a></li>
|
||
|
||
|
||
<li>Diaphyseal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li>Diaphyseal dysplasia associated with anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/">Ghosal hematodiaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Diaphyseal hyperostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li>Diaphyseal osteosclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li>Diarrhea, fatal infantile, with trichorrhexis nodosa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome/">Trichohepatoenteric syndrome</a></li>
|
||
|
||
|
||
<li>Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome</a></li>
|
||
|
||
|
||
<li>Diarrhea, syndromic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome/">Trichohepatoenteric syndrome</a></li>
|
||
|
||
|
||
<li>Diastrophic dwarfism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diastrophic-dysplasia/">Diastrophic dysplasia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/diastrophic-dysplasia/">Diastrophic dysplasia</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dicer1-syndrome/">DICER1 syndrome</a></li>
|
||
|
||
<li>DICER1-related pleuropulmonary blastoma cancer predisposition syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dicer1-syndrome/">DICER1 syndrome</a></li>
|
||
|
||
|
||
<li>DIDMOAD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolfram-syndrome/">Wolfram syndrome</a></li>
|
||
|
||
|
||
<li>DIDMOAD syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolfram-syndrome/">Wolfram syndrome</a></li>
|
||
|
||
|
||
<li>DIDMOADUD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolfram-syndrome/">Wolfram syndrome</a></li>
|
||
|
||
|
||
<li>Diffuse arterial calcifying elastopathy of infancy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy/">Generalized arterial calcification of infancy</a></li>
|
||
|
||
|
||
<li>Diffuse cerebral sclerosis of Schilder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
|
||
|
||
|
||
<li>Diffuse globoid body sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/krabbe-disease/">Krabbe disease</a></li>
|
||
|
||
|
||
<li>Diffuse lentiginosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines/">Noonan syndrome with multiple lentigines</a></li>
|
||
|
||
|
||
<li>Diffuse Lewy body disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies/">Dementia with Lewy bodies</a></li>
|
||
|
||
|
||
<li>Diffuse myofascial pain syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fibromyalgia/">Fibromyalgia</a></li>
|
||
|
||
|
||
<li>DiGeorge syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Digitocutaneous dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia/">Terminal osseous dysplasia</a></li>
|
||
|
||
|
||
<li>Digitorenocerebral syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dihydrolipoamide-dehydrogenase-deficiency/">Dihydrolipoamide dehydrogenase deficiency</a></li>
|
||
|
||
<li>Dihydrolipoyl dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydrolipoamide-dehydrogenase-deficiency/">Dihydrolipoamide dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency/">Dihydropyrimidinase deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency/">Dihydropyrimidine dehydrogenase deficiency</a></li>
|
||
|
||
<li>Dihydropyrimidinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency/">Dihydropyrimidine dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>Dihydropyrimidinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency/">Dihydropyrimidinase deficiency</a></li>
|
||
|
||
|
||
<li>Dihydrotestosterone receptor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
|
||
|
||
|
||
<li>Dihydrouracil amidohydrolase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency/">Dihydropyrimidinase deficiency</a></li>
|
||
|
||
|
||
<li>Dilated cardiomyopathy 3B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/">X-linked dilated cardiomyopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/">Dilated cardiomyopathy with ataxia syndrome</a></li>
|
||
|
||
<li>Dionisi Vici Sabetta Gambarara syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vici-syndrome/">Vici syndrome</a></li>
|
||
|
||
|
||
<li>Dionisi-Vici-Sabetta-Gambarara syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vici-syndrome/">Vici syndrome</a></li>
|
||
|
||
|
||
<li>DIS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome/">Deafness-infertility syndrome</a></li>
|
||
|
||
|
||
<li>Disaccharide intolerance I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/">Congenital sucrase-isomaltase deficiency</a></li>
|
||
|
||
|
||
<li>Discogenic disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intervertebral-disc-disease/">Intervertebral disc disease</a></li>
|
||
|
||
|
||
<li>Discogenic disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intervertebral-disc-disease/">Intervertebral disc disease</a></li>
|
||
|
||
|
||
<li>Disinhibition-dementia-parkinsonism-amytrophy complex, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/frontotemporal-dementia-with-parkinsonism-17/">Frontotemporal dementia with parkinsonism-17</a></li>
|
||
|
||
|
||
<li>Disorder of asparagine metabolism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Disorder of intervertebral disc, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intervertebral-disc-disease/">Intervertebral disc disease</a></li>
|
||
|
||
|
||
<li>Disorder, migraine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/migraine/">Migraine</a></li>
|
||
|
||
|
||
<li>Disseminated lupus erythematosus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/systemic-lupus-erythematosus/">Systemic lupus erythematosus</a></li>
|
||
|
||
|
||
<li>Disseminated sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-sclerosis/">Multiple sclerosis</a></li>
|
||
|
||
|
||
<li>Distal 10q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li>
|
||
|
||
<li>Distal arthrogryposis type 2B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome/">Sheldon-Hall syndrome</a></li>
|
||
|
||
|
||
<li>Distal arthrogryposis, type 2A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome/">Freeman-Sheldon syndrome</a></li>
|
||
|
||
|
||
<li>Distal arthrogyropsis type 9, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
|
||
|
||
|
||
<li>Distal cholangiocarcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
|
||
<li>Distal deletion 10q, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Distal hereditary motor neuronopathy type 5, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
|
||
<li>Distal hereditary motor neuronopathy type VI, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li>
|
||
|
||
|
||
<li>Distal hereditary motor neuronopathy, type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii/">Distal hereditary motor neuropathy, type II</a></li>
|
||
|
||
|
||
<li>Distal hereditary motor neuronopathy, type V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-ii/">Distal hereditary motor neuropathy, type II</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
<li>Distal median nerve compression, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>Distal median nerve entrapment, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>Distal monosomy 10q, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Distal monosomy 1p36, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome/">1p36 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Distal muscular dystrophy, Miyoshi type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/miyoshi-myopathy/">Miyoshi myopathy</a></li>
|
||
|
||
|
||
<li>Distal myopathy 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/laing-distal-myopathy/">Laing distal myopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/distal-myopathy-2/">Distal myopathy 2</a></li>
|
||
|
||
<li>Distal myopathy with or without rimmed vacuoles, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gne-myopathy/">GNE myopathy</a></li>
|
||
|
||
|
||
<li>Distal myopathy with rimmed vacuoles, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gne-myopathy/">GNE myopathy</a></li>
|
||
|
||
|
||
<li>Distal myopathy with vocal cord and pharyngeal signs, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-myopathy-2/">Distal myopathy 2</a></li>
|
||
|
||
|
||
<li>Distal myopathy with vocal cord weakness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-myopathy-2/">Distal myopathy 2</a></li>
|
||
|
||
|
||
<li>Distal myopathy, Nonaka type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gne-myopathy/">GNE myopathy</a></li>
|
||
|
||
|
||
<li>Distal myopathy, Tateyama type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/">CAV3-related distal myopathy</a></li>
|
||
|
||
|
||
<li>Distal spinal muscular atrophy type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li>
|
||
|
||
|
||
<li>Distal spinal muscular atrophy, type V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
|
||
<li>Distal X-linked AMC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-infantile-spinal-muscular-atrophy/">X-linked infantile spinal muscular atrophy</a></li>
|
||
|
||
|
||
<li>Distichiasis-lymphedema syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lymphedema-distichiasis-syndrome/">Lymphedema-distichiasis syndrome</a></li>
|
||
|
||
|
||
<li>DITRA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/">Generalized pustular psoriasis</a></li>
|
||
|
||
|
||
<li>DJS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome/">Dubin-Johnson syndrome</a></li>
|
||
|
||
|
||
<li>DK1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>DLB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dementia-with-lewy-bodies/">Dementia with Lewy bodies</a></li>
|
||
|
||
|
||
<li>DLD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydrolipoamide-dehydrogenase-deficiency/">Dihydrolipoamide dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy/">DLG4-related synaptopathy</a></li>
|
||
|
||
<li>DMD-associated dilated cardiomyopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/">X-linked dilated cardiomyopathy</a></li>
|
||
|
||
|
||
<li>DMD-related dilated cardiomyopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/">X-linked dilated cardiomyopathy</a></li>
|
||
|
||
|
||
<li>DMRV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gne-myopathy/">GNE myopathy</a></li>
|
||
|
||
|
||
<li>DNAJC19 defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/barth-syndrome/">Barth syndrome</a></li>
|
||
|
||
|
||
<li>DNAJC19 defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dilated-cardiomyopathy-with-ataxia-syndrome/">Dilated cardiomyopathy with ataxia syndrome</a></li>
|
||
|
||
|
||
<li>DNMT1-complex disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie/">Hereditary sensory and autonomic neuropathy type IE</a></li>
|
||
|
||
|
||
<li>DNMT1-related dementia, deafness, and sensory neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ie/">Hereditary sensory and autonomic neuropathy type IE</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dnmt3a-overgrowth-syndrome/">DNMT3A overgrowth syndrome</a></li>
|
||
|
||
<li>DOA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li>
|
||
|
||
|
||
<li>DOCK8 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
|
||
|
||
<li>Dolichol kinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Dolichospondylic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-m-syndrome/">3-M syndrome</a></li>
|
||
|
||
|
||
<li>DOLK-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
<li>Dominant optic atrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/donnai-barrow-syndrome/">Donnai-Barrow syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/donohue-syndrome/">Donohue syndrome</a></li>
|
||
|
||
<li>Donohue's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/donohue-syndrome/">Donohue syndrome</a></li>
|
||
|
||
|
||
<li>DOOR syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
<li>Dopa decarboxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/">Aromatic l-amino acid decarboxylase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/">Dopa-responsive dystonia</a></li>
|
||
|
||
<li>Dopa-responsive dystonia due to sepiapterin reductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sepiapterin-reductase-deficiency/">Sepiapterin reductase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/">Dopamine beta-hydroxylase deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome/">Dopamine transporter deficiency syndrome</a></li>
|
||
|
||
<li>Dopamine β-hydroxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/">Dopamine beta-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>Dorfman-Chanarin disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
|
||
<li>Dorfman-Chanarin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
|
||
<li>Double cortex syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia/">Subcortical band heterotopia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dowling-degos-disease/">Dowling-Degos disease</a></li>
|
||
|
||
<li>Dowling-Degos-Kitamura disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dowling-degos-disease/">Dowling-Degos disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/down-syndrome/">Down syndrome</a></li>
|
||
|
||
<li>Down's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/down-syndrome/">Down syndrome</a></li>
|
||
|
||
|
||
<li>DPD deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidine-dehydrogenase-deficiency/">Dihydropyrimidine dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>DPH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency/">Dihydropyrimidinase deficiency</a></li>
|
||
|
||
|
||
<li>DPR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis/">Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis</a></li>
|
||
|
||
|
||
<li>DPYS deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydropyrimidinase-deficiency/">Dihydropyrimidinase deficiency</a></li>
|
||
|
||
|
||
<li>Drash syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/denys-drash-syndrome/">Denys-Drash syndrome</a></li>
|
||
|
||
|
||
<li>DRC syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li>DRD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/">Dopa-responsive dystonia</a></li>
|
||
|
||
|
||
<li>DRPLA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dentatorubral-pallidoluysian-atrophy/">Dentatorubral-pallidoluysian atrophy</a></li>
|
||
|
||
|
||
<li>DRRS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome/">Duane-radial ray syndrome</a></li>
|
||
|
||
|
||
<li>Drug-induced Stevens Johnson syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis/">Stevens-Johnson syndrome/toxic epidermal necrolysis</a></li>
|
||
|
||
|
||
<li>DSMA1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-respiratory-distress-type-1/">Spinal muscular atrophy with respiratory distress type 1</a></li>
|
||
|
||
|
||
<li>DSMAV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-hereditary-motor-neuropathy-type-v/">Distal hereditary motor neuropathy, type V</a></li>
|
||
|
||
|
||
<li>DTD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diastrophic-dysplasia/">Diastrophic dysplasia</a></li>
|
||
|
||
|
||
<li>DTDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome/">Dopamine transporter deficiency syndrome</a></li>
|
||
|
||
|
||
<li>DTM1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/">CHMP2B-related frontotemporal dementia</a></li>
|
||
|
||
|
||
<li>Duane anomaly, isolated, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/">Isolated Duane retraction syndrome</a></li>
|
||
|
||
|
||
<li>Duane retraction syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/">Isolated Duane retraction syndrome</a></li>
|
||
|
||
|
||
<li>Duane syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/">Isolated Duane retraction syndrome</a></li>
|
||
|
||
|
||
<li>Duane's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/">Isolated Duane retraction syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome/">Duane-radial ray syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome/">Dubin-Johnson syndrome</a></li>
|
||
|
||
<li>Dubin-Sprinz syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome/">Dubin-Johnson syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/">Duchenne and Becker muscular dystrophy</a></li>
|
||
|
||
<li>Duchenne/Becker muscular dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy/">Duchenne and Becker muscular dystrophy</a></li>
|
||
|
||
|
||
<li>Duncan disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease/">X-linked lymphoproliferative disease</a></li>
|
||
|
||
|
||
<li>Dunnigan-Kobberling syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-partial-lipodystrophy/">Familial partial lipodystrophy</a></li>
|
||
|
||
|
||
<li>Dup(17)(p11.2p11.2), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
|
||
|
||
|
||
<li>Dup(7)(q11.23), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/">7q11.23 duplication syndrome</a></li>
|
||
|
||
|
||
<li>Dup15q syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome/">15q11-q13 duplication syndrome</a></li>
|
||
|
||
|
||
<li>Duplication 17p11.2 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
|
||
|
||
|
||
<li>Duplication/inversion 15q11, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q11-q13-duplication-syndrome/">15q11-q13 duplication syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
|
||
|
||
<li>Dupuytren disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
|
||
|
||
|
||
<li>Dupuytren's contracture, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
|
||
|
||
|
||
<li>Dwarf, achondroplastic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li>
|
||
|
||
|
||
<li>Dwarf, thanatophoric, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia/">Thanatophoric dysplasia</a></li>
|
||
|
||
|
||
<li>Dwarfism, growth hormone deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency/">Isolated growth hormone deficiency</a></li>
|
||
|
||
|
||
<li>Dwarfism, pituitary, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-growth-hormone-deficiency/">Isolated growth hormone deficiency</a></li>
|
||
|
||
|
||
<li>Dwarfism-onychodysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/">Coffin-Siris syndrome</a></li>
|
||
|
||
|
||
<li>Dwarfism-retinal atrophy-deafness syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cockayne-syndrome/">Cockayne syndrome</a></li>
|
||
|
||
|
||
<li>DWM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li>DWS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dandy-walker-malformation/">Dandy-Walker malformation</a></li>
|
||
|
||
|
||
<li>Dyschondroplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ollier-disease/">Ollier disease</a></li>
|
||
|
||
|
||
<li>Dyschondroplasia and cavernous hemangioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/maffucci-syndrome/">Maffucci syndrome</a></li>
|
||
|
||
|
||
<li>Dyschondrosteosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leri-weill-dyschondrosteosis/">Léri-Weill dyschondrosteosis</a></li>
|
||
|
||
|
||
<li>Dyschondrosteosis homozygous, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/langer-mesomelic-dysplasia/">Langer mesomelic dysplasia</a></li>
|
||
|
||
|
||
<li>Dysencephalia splanchnocystica, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meckel-syndrome/">Meckel syndrome</a></li>
|
||
|
||
|
||
<li>Dysequilibrium syndrome-VLDLR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia/">Dyserythropoietic anemia and thrombocytopenia</a></li>
|
||
|
||
<li>Dyserythropoietic anemia with thrombocytopenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dyserythropoietic-anemia-and-thrombocytopenia/">Dyserythropoietic anemia and thrombocytopenia</a></li>
|
||
|
||
|
||
<li>Dysgenesis neuroepithelialis retinae, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li>
|
||
|
||
|
||
<li>Dysgnathia complex, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome/">Auriculo-condylar syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dyskeratosis-congenita/">Dyskeratosis congenita</a></li>
|
||
|
||
<li>Dyslipoproteinemic corneal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li>
|
||
|
||
|
||
<li>Dysmyelinating leukodystrophy and spastic paraparesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fatty-acid-hydroxylase-associated-neurodegeneration/">Fatty acid hydroxylase-associated neurodegeneration</a></li>
|
||
|
||
|
||
<li>Dysmyelinogenic leukodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
|
||
|
||
|
||
<li>Dysostosis craniofacialis with hypertelorism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
|
||
|
||
|
||
<li>Dysplasia linguofacialis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/oral-facial-digital-syndrome/">Oral-facial-digital syndrome</a></li>
|
||
|
||
|
||
<li>Dysprothrombinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prothrombin-deficiency/">Prothrombin deficiency</a></li>
|
||
|
||
|
||
<li>Dystonia 10, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia/">Familial paroxysmal kinesigenic dyskinesia</a></li>
|
||
|
||
|
||
<li>Dystonia 11, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myoclonus-dystonia/">Myoclonus-dystonia</a></li>
|
||
|
||
|
||
<li>Dystonia 12, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/">Rapid-onset dystonia parkinsonism</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dystonia-16/">Dystonia 16</a></li>
|
||
|
||
<li>Dystonia 3, torsion, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism/">X-linked dystonia-parkinsonism</a></li>
|
||
|
||
|
||
<li>Dystonia 5, dopa-responsive type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/">Dopa-responsive dystonia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dystonia-6/">Dystonia 6</a></li>
|
||
|
||
<li>Dystonia musculorum deformans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism/">X-linked dystonia-parkinsonism</a></li>
|
||
|
||
|
||
<li>Dystonia musculorum deformans 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
|
||
|
||
|
||
<li>Dystonia-parkinsonism, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism/">X-linked dystonia-parkinsonism</a></li>
|
||
|
||
|
||
<li>Dystrophia brevicollis congenita, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/">Klippel-Feil syndrome</a></li>
|
||
|
||
|
||
<li>Dystrophia corneae parenchymatosa congenita, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>Dystrophia myotonica, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myotonic-dystrophy/">Myotonic dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa/">Dystrophic epidermolysis bullosa</a></li>
|
||
|
||
<li>Dystrophy, oculopharyngeal muscular, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy/">Oculopharyngeal muscular dystrophy</a></li>
|
||
|
||
|
||
<li>DYT-PRKRA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystonia-16/">Dystonia 16</a></li>
|
||
|
||
|
||
<li>DYT1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
|
||
|
||
|
||
<li>DYT11, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myoclonus-dystonia/">Myoclonus-dystonia</a></li>
|
||
|
||
|
||
<li>DYT12, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/">Rapid-onset dystonia parkinsonism</a></li>
|
||
|
||
|
||
<li>DYT16, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystonia-16/">Dystonia 16</a></li>
|
||
|
||
|
||
<li>DYT3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dystonia-parkinsonism/">X-linked dystonia-parkinsonism</a></li>
|
||
|
||
|
||
<li>DYT5b, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>DYT6, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystonia-6/">Dystonia 6</a></li>
|
||
|
||
|
||
<li>DYT6 dystonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystonia-6/">Dystonia 6</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</section>
|
||
|
||
<section>
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