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<span>Genetic Conditions</span>
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<h1>Genetic Conditions</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">
<li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li>
<li><span class="active">A</span></li>
<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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<section>
<ul class="withident breaklist">
<li>A-alphalipoprotein neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li>
<li>A-T, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li>
<li>AA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li>
<li>AAA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>AAA syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>AADC 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>AADCD, <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>Aarskog syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li>
<li>AAS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/">Aarskog-Scott syndrome</a></li>
<li>AASA dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li>Aase syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
<li>Aase-Smith syndrome II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
<li>AAT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li>
<li>AATD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li>
<li>ABAT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency/">GABA-transaminase deficiency</a></li>
<li>ABCB11-related intrahepatic cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/">Benign recurrent intrahepatic cholestasis</a></li>
<li>ABCB11-related intrahepatic cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li>
<li>ABCB4-related intrahepatic cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li>
<li>Abdominal hernia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abdominal-wall-defect/">Abdominal wall defect</a></li>
<li>Abdominal migraine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/abdominal-wall-defect/">Abdominal wall defect</a></li>
<li>Abetalipoproteinaemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li>Abetalipoproteinemia neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li>ABL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li>Absence defect of limbs, scalp, and skull, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li>
<li>Absence epilepsy, childhood, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li>
<li>Absence of fingerprints, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li>
<li>Absence of vas deferens, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/">Congenital bilateral absence of the vas deferens</a></li>
<li>Absent corpus callosum cataract immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vici-syndrome/">Vici syndrome</a></li>
<li>Absent iris, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aniridia/">Aniridia</a></li>
<li>Absent nails, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li>
<li>Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/genitopatellar-syndrome/">Genitopatellar syndrome</a></li>
<li>Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rapadilino-syndrome/">RAPADILINO syndrome</a></li>
<li>Absent vasa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/">Congenital bilateral absence of the vas deferens</a></li>
<li>AC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acad9-deficiency/">ACAD9 deficiency</a></li>
<li>ACADM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/">Medium-chain acyl-CoA dehydrogenase deficiency</a></li>
<li>ACADS deficiency, <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>ACADVL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/">Very long-chain acyl-CoA dehydrogenase deficiency</a></li>
<li>Acanthocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acatalasemia/">Acatalasemia</a></li>
<li>Acatalasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acatalasemia/">Acatalasemia</a></li>
<li>ACC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita/">Nonsyndromic aplasia cutis congenita</a></li>
<li>ACCPN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
<li>ACD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li>
<li>ACD/MPV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li>
<li>ACDMPV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aceruloplasminemia/">Aceruloplasminemia</a></li>
<li>ACH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li>
<li>Achalasia-addisonian syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>Achalasia-addisonianism-alacrima syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>Achalasia-alacrima syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li>
<li>achondrogenesis type IA (Houston-Harris type), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li>
<li>achondrogenesis type IB (Fraccaro type), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li>
<li>achondrogenesis type II (Langer-Saldino type), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondrogenesis/">Achondrogenesis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li>
<li>Achondroplasia, severe, with developmental delay and acanthosis nigricans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saddan/">SADDAN</a></li>
<li>Achondroplastic dwarfism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achondroplasia/">Achondroplasia</a></li>
<li>Achromatism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/achromatopsia/">Achromatopsia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/achromatopsia/">Achromatopsia</a></li>
<li>Acid ceramidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li>
<li>Acid esterase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li>
<li>Acid lipase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li>
<li>Acid maltase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>Acid maltase deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>ACLS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acrocallosal-syndrome/">Acrocallosal syndrome</a></li>
<li>ACMICD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia/">Acromicric dysplasia</a></li>
<li>Acne inversa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa/">Hidradenitis suppurativa</a></li>
<li>ACPS II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li>
<li>Acquired aphasia with epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
<li>Acral dysostosis with facial and genital abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/robinow-syndrome/">Robinow syndrome</a></li>
<li>Acral peeling skin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acrocallosal-syndrome/">Acrocallosal syndrome</a></li>
<li>Acrocephalopolysyndactyly 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li>
<li>Acrocephalopolysyndactyly type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li>
<li>Acrocephalosyndactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li>
<li>Acrocephalosyndactyly III, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
<li>Acrocephalosyndactyly type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li>
<li>Acrocephalosyndactyly, type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li>
<li>Acrocephalosyndactyly, type III, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
<li>Acrocephalosyndactyly, type V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li>
<li>Acrocephaly, skull asymmetry, and mild syndactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
<li>Acrodental dysostosis of Weyers, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis/">Weyers acrofacial dysostosis</a></li>
<li>Acroerythrokeratoderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mal-de-meleda/">Mal de Meleda</a></li>
<li>Acrofacial dysostosis 1, Nager type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acromicric-dysplasia/">Acromicric dysplasia</a></li>
<li>Acroosteolysis dominant type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
<li>Acroosteolysis with osteoporosis and changes in skull and mandible, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
<li>Acrosome malformation of spermatozoa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/globozoospermia/">Globozoospermia</a></li>
<li>ACS III, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
<li>ACS V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li>
<li>ACS3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
<li>ACS5, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li>
<li>ACTH resistance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency/">Familial glucocorticoid deficiency</a></li>
<li>ACTH-independent macronodular adrenal hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>ACTH-independent macronodular adrenocortical hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>Actin filament aggregate myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li>
<li>Actin myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li>
<li>Action myoclonus-renal failure syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonusrenal failure syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonusrenal failure syndrome</a></li>
<li>Action myoclonusrenal failure syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonusrenal failure syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li>
<li>Acute febrile mucocutaneous lymph node syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kawasaki-disease/">Kawasaki disease</a></li>
<li>Acute generalised pustular psoriasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/">Generalized pustular psoriasis</a></li>
<li>Acute infectious polyneuritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/guillain-barre-syndrome/">Guillain-Barré syndrome</a></li>
<li>Acute inflammatory polyneuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/guillain-barre-syndrome/">Guillain-Barré syndrome</a></li>
<li>Acute myelogenous leukemia with normal karyotype, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia/">Cytogenetically normal acute myeloid leukemia</a></li>
<li>Acute necrotizing encephalitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li>
<li>ACY1D, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/">Aminoacylase 1 deficiency</a></li>
<li>ACY2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
<li>Acyl-CoA dehydrogenase 9 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acad9-deficiency/">ACAD9 deficiency</a></li>
<li>Acyl-CoA dehydrogenase very long chain deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency/">Very long-chain acyl-CoA dehydrogenase deficiency</a></li>
<li>Acyl-coenzyme A oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li>
<li>Acylsphingosine deacylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li>
<li>AD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>AD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anauxetic-dysplasia/">Anauxetic dysplasia</a></li>
<li>AD-HIES, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li>ADA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li>ADA-Related Immune Deficiency, Adenosine Deaminase 1 Deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li>ADA-SCID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li>ADA1 Deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li>ADA2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li>
<li>Adamantiades-Behcet disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/behcet-disease/">Behçet disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li>
<li>ADANE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li>ADCA-DN syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li>
<li>ADCADN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li>
<li>AdCSNB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness/">Autosomal dominant congenital stationary night blindness</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adcy5-related-dyskinesia/">ADCY5-related dyskinesia</a></li>
<li>ADD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>ADDH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>ADDH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
<li>Adducted thumbs-mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/l1-syndrome/">L1 syndrome</a></li>
<li>ADEAF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li>
<li>Adenomatosis, familial endocrine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/">Multiple endocrine neoplasia</a></li>
<li>Adenomatous familial polyposis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li>
<li>Adenomatous familial polyposis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li>
<li>Adenomatous polyposis coli, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis/">Familial adenomatous polyposis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li>Adenosine deaminase deficient severe combined immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-deficiency/">Adenosine deaminase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/">Adenosine monophosphate deaminase deficiency</a></li>
<li>Adenylosuccinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li>
<li>ADERM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li>
<li>ADG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adermatoglyphia/">Adermatoglyphia</a></li>
<li>ADH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li>
<li>ADH-resistant diabetes insipidus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li>
<li>ADHD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Adiposalgia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
<li>Adipose tissue rheumatism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
<li>ADLD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li>
<li>ADLTE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li>ADMCKD2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li>ADNFLE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/">Autosomal dominant nocturnal frontal lobe epilepsy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li>
<li>ADNP-related intellectual disability and autism spectrum disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li>
<li>ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adnp-syndrome/">ADNP syndrome</a></li>
<li>ADOA, <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/adolescent-idiopathic-scoliosis/">Adolescent idiopathic scoliosis</a></li>
<li>Adolescent myoclonic epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy/">Juvenile myoclonic epilepsy</a></li>
<li>ADPEAF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li>Adrenal Cushing syndrome due to AIMAH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>Adrenal hyperplasia V, <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>Adrenal hyperplasia, hypertensive form, <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>Adrenal hypoplasia congenita, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita/">X-linked adrenal hypoplasia congenita</a></li>
<li>Adrenal unresponsiveness to ACTH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-glucocorticoid-deficiency/">Familial glucocorticoid deficiency</a></li>
<li>Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>ADSL deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency/">Adenylosuccinate lyase deficiency</a></li>
<li>ADTKD-UMOD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li>ADTKD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li>Adult neuronal ceroid lipofuscinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li>
<li>Adult onset ataxia with oculomotor apraxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/">Adult polyglucosan body disease</a></li>
<li>Adult premature aging syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/werner-syndrome/">Werner syndrome</a></li>
<li>Adult progeria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/werner-syndrome/">Werner syndrome</a></li>
<li>Adult Refsum disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li>
<li>Adult-onset autosomal dominant leukodystrophy with autonomic symptoms, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li>
<li>Adult-onset diabetes, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
<li>Adult-onset diabetes mellitus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia</a></li>
<li>ADVIRC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/">Autosomal dominant vitreoretinochoroidopathy</a></li>
<li>Adynamia episodica hereditaria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis/">Hyperkalemic periodic paralysis</a></li>
<li>AEC syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li>
<li>AEG syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome/">SOX2 anophthalmia syndrome</a></li>
<li>AEXS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/">Aromatase excess syndrome</a></li>
<li>AFD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li>
<li>Affective disorder, seasonal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/seasonal-affective-disorder/">Seasonal affective disorder</a></li>
<li>Afibrinogenemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia/">Congenital afibrinogenemia</a></li>
<li>African hemochromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li>
<li>African nutritional hemochromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li>
<li>African siderosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/african-iron-overload/">African iron overload</a></li>
<li>AGA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li>
<li>Agammaglobulinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia/">X-linked agammaglobulinemia</a></li>
<li>Aganglionic megacolon, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hirschsprung-disease/">Hirschsprung disease</a></li>
<li>AGAT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li>
<li>Age-related hearing impairment, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li>
<li>Age-related maculopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li>
<li>Agenesis of cerebellar vermis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">Joubert syndrome</a></li>
<li>Agenesis of corpus callosum with chorioretinal abnormality, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
<li>Agenesis of corpus callosum with infantile spasms and ocular abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
<li>Agenesis of corpus callosum with neuronopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
<li>Agenesis of corpus callosum with peripheral neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
<li>Agenesis of corpus callosum with polyneuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
<li>Aggressive fibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/desmoid-tumor/">Desmoid tumor</a></li>
<li>AGL deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/">Glycogen storage disease type III</a></li>
<li>AGM1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li>Agnogenic myeloid metaplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-myelofibrosis/">Primary myelofibrosis</a></li>
<li>AGS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
<li>AH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li>
<li>AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome/">Xia-Gibbs syndrome</a></li>
<li>AHUS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome/">Atypical hemolytic-uremic syndrome</a></li>
<li>AI, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/">Amelogenesis imperfecta</a></li>
<li>Aicardi Goutieres syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
<li>Aicardi&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
<li>AIMAH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>AIPDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/otulipenia/">Otulipenia</a></li>
<li>AIRE deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Airsickness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/motion-sickness/">Motion sickness</a></li>
<li>AIS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
<li>AIS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adolescent-idiopathic-scoliosis/">Adolescent idiopathic scoliosis</a></li>
<li>AKU, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li>
<li>Al-Aqeel Sewairi syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multicentric-osteolysis-nodulosis-and-arthropathy/">Multicentric osteolysis, nodulosis, and arthropathy</a></li>
<li>Alacrima-achalasia-adrenal insufficiency neurologic disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>Alactasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lactose-intolerance/">Lactose intolerance</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
<li>Alagille&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
<li>Alagille-Watson syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
<li>Albinism and complete nerve deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tietz-syndrome/">Tietz syndrome</a></li>
<li>Albinism, ocular, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ocular-albinism/">Ocular albinism</a></li>
<li>Albinism, oculocutaneous, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/oculocutaneous-albinism/">Oculocutaneous albinism</a></li>
<li>Albinism-deafness of Tietz, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tietz-syndrome/">Tietz syndrome</a></li>
<li>Albipunctate retinal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fundus-albipunctatus/">Fundus albipunctatus</a></li>
<li>Albright hereditary osteodystrophy-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li>
<li>Albright syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright&#x27;s disease of bone, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright&#x27;s syndrome with precocious puberty, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright-McCune-Sternberg syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Albright-Sternberg syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Alcaptonuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li>
<li>Alcohol addiction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li>
<li>Alcohol dependence, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li>
<li>Alcoholism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alcohol-use-disorder/">Alcohol use disorder</a></li>
<li>ALDD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome/">Nakajo-Nishimura syndrome</a></li>
<li>ALDOB deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance/">Hereditary fructose intolerance</a></li>
<li>Aldolase B deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-fructose-intolerance/">Hereditary fructose intolerance</a></li>
<li>Aldosterone deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
<li>Aldosterone deficiency due to deficiency of steroid 18-hydroxylase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
<li>Aldosterone deficiency due to deficiency of steroid 18-oxidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
<li>Aldosterone synthase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li>
<li>Aldosterone-secreting adenoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li>
<li>Aldosteronism with hyperplasia of the adrenal cortex, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bartter-syndrome/">Bartter syndrome</a></li>
<li>Aldosteronoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
<li>Alexander&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
<li>ALG1-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
<li>ALG12-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
<li>ALG6-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
<li>Alibert-Bazin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mycosis-fungoides/">Mycosis fungoides</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alkaptonuria/">Alkaptonuria</a></li>
<li>Allan-Herndon syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome/">Allan-Herndon-Dudley syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/allan-herndon-dudley-syndrome/">Allan-Herndon-Dudley syndrome</a></li>
<li>Allanson Pantzar McLeod syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis/">Renal tubular dysgenesis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/allergic-asthma/">Allergic asthma</a></li>
<li>Allgrove syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/triple-a-syndrome/">Triple A syndrome</a></li>
<li>ALMS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alström syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li>
<li>Alopecia circumscripta, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alopecia-areata/">Alopecia areata</a></li>
<li>Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li>Alpers disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li>Alpers progressive infantile poliodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li>Alpers syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li>Alpha high density lipoprotein deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia/">Alpha thalassemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li>Alpha thalassemia X-linked mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li>Alpha thalassemia/mental retardation, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li>
<li>Alpha-1 protease inhibitor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li>
<li>Alpha-1 related emphysema, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/">Alpha-1 antitrypsin deficiency</a></li>
<li>Alpha-1,4-glucosidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>Alpha-aminoadipic semialdehyde deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperlysinemia/">Hyperlysinemia</a></li>
<li>Alpha-D-mannosidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li>
<li>Alpha-galactosidase A deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li>
<li>Alpha-galactosidase B deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li>
<li>Alpha-galNAc deficiency, Schindler type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li>
<li>Alpha-L-fucosidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fucosidosis/">Fucosidosis</a></li>
<li>Alpha-LCAT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li>
<li>Alpha-lecithin:cholesterol acyltransferase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li>
<li>Alpha-mannosidase B deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li>
<li>Alpha-mannosidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpha-mannosidosis/">Alpha-mannosidosis</a></li>
<li>Alpha-methylacetoacetic aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-ketothiolase-deficiency/">Beta-ketothiolase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/">Alpha-methylacyl-CoA racemase deficiency</a></li>
<li>Alpha-N-acetylgalactosaminidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li>
<li>Alpha-NAGA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li>
<li>Alpha-thalassemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia/">Alpha thalassemia</a></li>
<li>Alpha-thalassemia X-linked mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li>Alpha-thalassemia/mental retardation syndrome, nondeletion type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alport-syndrome/">Alport syndrome</a></li>
<li>ALPS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/">Autoimmune lymphoproliferative syndrome</a></li>
<li>ALS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li>
<li>ALSP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/">Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia</a></li>
<li>Alstrom syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alström syndrome</a></li>
<li>Alstrom-Hallgren syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alström syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alstrom-syndrome/">Alström syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood/">Alternating hemiplegia of childhood</a></li>
<li>Alternating hemiplegia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alternating-hemiplegia-of-childhood/">Alternating hemiplegia of childhood</a></li>
<li>Alveolar capillary dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/">Alveolar capillary dysplasia with misalignment of pulmonary veins</a></li>
<li>ALX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
<li>Alymphoid cystic thymic dysgenesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy/">T-cell immunodeficiency, congenital alopecia, and nail dystrophy</a></li>
<li>Alzheimer dementia (AD), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>Alzheimer disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>Alzheimer sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>Alzheimer syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>Alzheimer-type dementia (ATD), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>AMACR deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-methylacyl-coa-racemase-deficiency/">Alpha-methylacyl-CoA racemase deficiency</a></li>
<li>Amaurosis, Leber congenital, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li>
<li>AMCD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li>
<li>AMCX1, <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>AMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>AMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/">Amelogenesis imperfecta</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency/">Aminoacylase 1 deficiency</a></li>
<li>Aminoacylase 2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
<li>Amish brittle hair syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichothiodystrophy/">Trichothiodystrophy</a></li>
<li>Amish infantile epilepsy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency/">GM3 synthase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/">Amish lethal microcephaly</a></li>
<li>Amish microcephaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/">Amish lethal microcephaly</a></li>
<li>AML M3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li>
<li>AMP deaminase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/">Adenosine monophosphate deaminase deficiency</a></li>
<li>AMRF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonusrenal failure syndrome</a></li>
<li>Amyloid cranial neuropathy with lattice corneal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li>
<li>Amyloidosis due to mutant gelsolin, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li>
<li>Amyloidosis IX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis/">Primary localized cutaneous amyloidosis</a></li>
<li>Amyloidosis V, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li>
<li>Amyloidosis, Finnish type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li>
<li>Amyloidosis, Meretoja type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lattice-corneal-dystrophy-type-ii/">Lattice corneal dystrophy type II</a></li>
<li>Amylopectinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li>
<li>Amyotrophic lateral sclerosis with dementia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li>
<li>Amyotrophic neuralgia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/">Hereditary neuralgic amyotrophy</a></li>
<li>Amyotrophy, thenar, of carpal origin, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
<li>Anal-ear-renal-radial malformation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/townes-brocks-syndrome/">Townes-Brocks Syndrome</a></li>
<li>Analphalipoproteinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li>
<li>Anancastic neurosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/obsessive-compulsive-disorder/">Obsessive-compulsive disorder</a></li>
<li>Anankastic neurosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/obsessive-compulsive-disorder/">Obsessive-compulsive disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/anauxetic-dysplasia/">Anauxetic dysplasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
<li>Anders syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adiposis-dolorosa/">Adiposis dolorosa</a></li>
<li>Andersen disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li>
<li>Andersen glycogenosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li>
<li>Andersen syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li>
<li>Andersen&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iv/">Glycogen storage disease type IV</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li>
<li>Anderson disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li>
<li>Anderson syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li>
<li>Anderson-Fabry disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li>
<li>Anderson-Warburg syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
<li>Androgen receptor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
<li>Androgen resistance syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/androgenetic-alopecia/">Androgenetic alopecia</a></li>
<li>Androgenic alopecia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgenetic-alopecia/">Androgenetic alopecia</a></li>
<li>ANE1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li>Anemia, dyserythropoietic, congenital, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/">Congenital dyserythropoietic anemia</a></li>
<li>Anemia, hereditary sideroblastic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li>
<li>Anemia, hypochromic microcytic, with defect in iron metabolism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia/">Iron-refractory iron deficiency anemia</a></li>
<li>Anemia, sex-linked hypochromic sideroblastic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li>
<li>Anencephalia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li>
<li>Anencephalus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li>
<li>Anesthesia related hyperthermia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia/">Malignant hyperthermia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/angelman-syndrome/">Angelman syndrome</a></li>
<li>Angelman-like syndrome, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/christianson-syndrome/">Christianson syndrome</a></li>
<li>Angio-osteohypertrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/">Klippel-Trenaunay syndrome</a></li>
<li>Angiohemophilia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/von-willebrand-disease/">Von Willebrand disease</a></li>
<li>Angiokeratoma corporis diffusum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li>
<li>Angiokeratoma corporis diffusum-glycopeptiduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schindler-disease/">Schindler disease</a></li>
<li>Angiokeratoma diffuse, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li>
<li>Angiomatosis aculoorbital-thalamic syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/">Sturge-Weber syndrome</a></li>
<li>Angiomatosis retinae, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome/">Von Hippel-Lindau syndrome</a></li>
<li>ANH1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li>
<li>Anhidrotic ectodermal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypohidrotic-ectodermal-dysplasia/">Hypohidrotic ectodermal dysplasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/">Anhidrotic ectodermal dysplasia with immune deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aniridia/">Aniridia</a></li>
<li>Aniridia, cerebellar ataxia, and mental retardation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li>
<li>Aniridia-cerebellar ataxia-intellectual disability, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li>
<li>Aniridia-cerebellar ataxia-mental deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li>
<li>Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome/">Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ankylosing-spondylitis/">Ankylosing spondylitis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/">Ankyrin-B syndrome</a></li>
<li>Annuloaortic ectasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection/">Familial thoracic aortic aneurysm and dissection</a></li>
<li>Anonychia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li>
<li>Anophthalmia-esophageal-genital syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sox2-anophthalmia-syndrome/">SOX2 anophthalmia syndrome</a></li>
<li>Anophthalmia-syndactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li>
<li>Anophthalmia-Waardenburg syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li>
<li>Anophthalmos with limb anomalies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li>
<li>Anophthalmos-limb anomalies syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ophthalmo-acromelic-syndrome/">Ophthalmo-acromelic syndrome</a></li>
<li>Anosmic hypogonadism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kallmann-syndrome/">Kallmann syndrome</a></li>
<li>Anosmic idiopathic hypogonadotropic hypogonadism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kallmann-syndrome/">Kallmann syndrome</a></li>
<li>ANS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum/">Ataxia neuropathy spectrum</a></li>
<li>Anti-phospholipid syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li>
<li>Antibody deficiency and immune dysregulation, PLCG2-associated, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/">PLCG2-associated antibody deficiency and immune dysregulation</a></li>
<li>Antiphospholipid antibody syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/">Antiphospholipid syndrome</a></li>
<li>Antithrombin III deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/">Hereditary antithrombin deficiency</a></li>
<li>Antley-Bixler syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
<li>Antley-Bixler syndrome with disordered steroidogenesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
<li>Antley-Bixler syndrome-like phenotype with disordered steroidogenesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
<li>AO2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li>
<li>AODM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-2-diabetes/">Type 2 diabetes</a></li>
<li>AOI, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li>
<li>AOIII, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li>
<li>Aortic stenosis, supravalvular, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/">Supravalvular aortic stenosis</a></li>
<li>AOS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li>
<li>APBD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/">Adult polyglucosan body disease</a></li>
<li>APC resistance, Leiden type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-v-leiden-thrombophilia/">Factor V Leiden thrombophilia</a></li>
<li>APDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li>
<li>APECED, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li>
<li>Apert&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/apert-syndrome/">Apert syndrome</a></li>
<li>APL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia/">Acute promyelocytic leukemia</a></li>
<li>Aplasia cutis congenita with terminal transverse limb defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li>
<li>Aplastic nails, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li>
<li>Apnea, obstructive, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/obstructive-sleep-apnea/">Obstructive sleep apnea</a></li>
<li>Apocrinitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa/">Hidradenitis suppurativa</a></li>
<li>Apolipoprotein B deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
<li>Appelt-Gerken-Lenz syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/roberts-syndrome/">Roberts syndrome</a></li>
<li>Aprosencephaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li>
<li>APRT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenine-phosphoribosyltransferase-deficiency/">Adenine phosphoribosyltransferase deficiency</a></li>
<li>APS type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>APS1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>APSS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li>
<li>AR deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/">Androgen insensitivity syndrome</a></li>
<li>AR dRTA with deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li>
<li>AR dRTA with hearing loss, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li>
<li>AR-HIES, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
<li>Arakawa syndrome 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency/">Glutamate formiminotransferase deficiency</a></li>
<li>ARAN-NM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li>
<li>ARCA1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li>
<li>ARD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li>
<li>ARG1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li>
<li>Arginase deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li>
<li>Argininemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginase-deficiency/">Arginase deficiency</a></li>
<li>Argininosuccinate lyase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Argininosuccinic acidemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Argininosuccinicaciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Argininosuccinyl-CoA lyase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Arginosuccinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Arhinia choanal atresia microphthalmia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li>
<li>Arhinia, choanal atresia, and microphthalmia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li>
<li>Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/">Bosma arhinia microphthalmia syndrome</a></li>
<li>ARMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-macular-degeneration/">Age-related macular degeneration</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aromatase-deficiency/">Aromatase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aromatase-excess-syndrome/">Aromatase excess syndrome</a></li>
<li><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/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>Arrhythmogenic right ventricular cardiomyopathy-dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>Arrhythmogenic right ventricular dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>Arrhythmogenic right ventricular dysplasia/cardiomyopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>ARS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>ARSA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li>
<li>ARSACS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/">Autosomal recessive spastic ataxia of Charlevoix-Saguenay</a></li>
<li>Arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/grange-syndrome/">Grange syndrome</a></li>
<li>Arterial tortuosity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li>
<li>Arteriohepatic dysplasia (AHD), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
<li>Arteriopathia calcificans infantum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy/">Generalized arterial calcification of infancy</a></li>
<li>Arthritis, degenerative, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li>
<li>Arthritis, gouty, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gout/">Gout</a></li>
<li>Arthritis, juvenile rheumatoid, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-idiopathic-arthritis/">Juvenile idiopathic arthritis</a></li>
<li>Arthritis, rheumatoid, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rheumatoid-arthritis/">Rheumatoid arthritis</a></li>
<li>Arthro-dento-osteo dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
<li>Arthrocutaneouveal granulomatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blau-syndrome/">Blau syndrome</a></li>
<li>Arthrodentoosteodysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
<li>Arthrogryposis multiplex congenita, distal, type 2B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome/">Sheldon-Hall syndrome</a></li>
<li>Arthrogryposis multiplex congenita, distal, X-linked, <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>Arthrogryposis, distal, type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-arthrogryposis-type-1/">Distal arthrogryposis type 1</a></li>
<li>Arthrogryposis, X-lined, type I, <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>Arthrogryposis-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kuskokwim-syndrome/">Kuskokwim syndrome</a></li>
<li>Arthrogyroposis, distal, type 9, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
<li>Arthroophthalmopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stickler-syndrome/">Stickler syndrome</a></li>
<li>Arthropathic psoriasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/psoriatic-arthritis/">Psoriatic arthritis</a></li>
<li>Arthropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/osteoarthritis/">Osteoarthritis</a></li>
<li>Articular gout, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gout/">Gout</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li>
<li>ARVC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>ARVD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>ARVD/C, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy/">Arrhythmogenic right ventricular cardiomyopathy</a></li>
<li>Arylsulfatase A deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li>
<li>Arylsulfatase B deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/">Mucopolysaccharidosis type VI</a></li>
<li>Arylsulfatase E deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/">X-linked chondrodysplasia punctata 1</a></li>
<li>AS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/angelman-syndrome/">Angelman syndrome</a></li>
<li>ASA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>Asadollahi-Rauch syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li>
<li>ASAuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>ASD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li>
<li>Aseptic necrosis of the capital femoral epiphysis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease/">Legg-Calvé-Perthes disease</a></li>
<li>Asidan ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-36/">Spinocerebellar ataxia type 36</a></li>
<li>ASL deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/argininosuccinic-aciduria/">Argininosuccinic aciduria</a></li>
<li>ASNS deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li>
<li>ASNSD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li>
<li>Aspa deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li>
<li>Aspartoacylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
<li>Aspartyl-tRNA synthetase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypomyelination-with-brainstem-and-spinal-cord-involvement-and-leg-spasticity/">Hypomyelination with brainstem and spinal cord involvement and leg spasticity</a></li>
<li>Aspartylglucosamidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li>
<li>Aspartylglucosaminidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li>
<li>Aspartylglycosaminuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/">Aspartylglucosaminuria</a></li>
<li>Asphyxiating thoracic chondrodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li>
<li>Asphyxiating thoracic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li>
<li>Asplenia, familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia/">Isolated congenital asplenia</a></li>
<li>Asplenia, isolated congenital, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia/">Isolated congenital asplenia</a></li>
<li>ASRAS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li>
<li>Asymbolia for pain, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/channelopathy-associated-congenital-insensitivity-to-pain/">Channelopathy-associated congenital insensitivity to pain</a></li>
<li>Asymmetric hypoplasia of facial structures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ataxia-neuropathy-spectrum/">Ataxia neuropathy spectrum</a></li>
<li>Ataxia telangiectasia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li>
<li>Ataxia with isolated vitamin E deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li>
<li>Ataxia with lactic acidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li>
<li>Ataxia with lactic acidosis, type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/">Pyruvate carboxylase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li>
<li>Ataxia, delayed dentition, and hypomyelination, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
<li>Ataxia, fatal X-linked, with deafness and loss of vision, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li>
<li>Ataxia-deafness-optic atrophy, lethal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arts-syndrome/">Arts syndrome</a></li>
<li>Ataxia-hypogonadism-choroidal dystrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/">Boucher-Neuhäuser syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome/">Ataxia-pancytopenia syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li>
<li>Ataxia-telangiectasia variant 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome/">Nijmegen breakage syndrome</a></li>
<li>ATD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li>
<li>Atelosteogenesis de la Chapelle type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li>
<li>Atelosteogenesis type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1/">Atelosteogenesis type 1</a></li>
<li>Atelosteogenesis type III, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3/">Atelosteogenesis type 3</a></li>
<li>Atelosteogenesis, type 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2/">Atelosteogenesis type 2</a></li>
<li>ATM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-telangiectasia/">Ataxia-telangiectasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/atopic-dermatitis/">Atopic dermatitis</a></li>
<li>Atopic eczema, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/atopic-dermatitis/">Atopic dermatitis</a></li>
<li>ATP synthase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mitochondrial-complex-v-deficiency/">Mitochondrial complex V deficiency</a></li>
<li>ATP8B1-related intrahepatic cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/">Benign recurrent intrahepatic cholestasis</a></li>
<li>ATP8B1-related intrahepatic cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li>
<li>ATR-X syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li>Atrial fibrillation, familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation/">Familial atrial fibrillation</a></li>
<li>Atrio-digital syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/holt-oram-syndrome/">Holt-Oram syndrome</a></li>
<li>Atriodigital dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/holt-oram-syndrome/">Holt-Oram syndrome</a></li>
<li>Atrophia bulborum hereditaria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li>
<li>ATRX syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome/">Alpha thalassemia X-linked intellectual disability syndrome</a></li>
<li>ATS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome/">Andersen-Tawil syndrome</a></li>
<li>ATS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arterial-tortuosity-syndrome/">Arterial tortuosity syndrome</a></li>
<li>Attention deficit, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Attention deficit disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Attention deficit disorder of childhood with hyperactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Attention deficit disorder with hyperactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Attention deficit disorder with hyperactivity syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>Attention deficit hyperactivity disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/attention-deficit-hyperactivity-disorder/">Attention-deficit/hyperactivity disorder</a></li>
<li>ATTR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/">Transthyretin amyloidosis</a></li>
<li>ATXPC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-pancytopenia-syndrome/">Ataxia-pancytopenia syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/atypical-hemolytic-uremic-syndrome/">Atypical hemolytic-uremic syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/au-kline-syndrome/">Au-Kline syndrome</a></li>
<li>Auditory vertigo, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meniere-disease/">Ménière disease</a></li>
<li>AUH defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li>
<li>Aural vertigo, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meniere-disease/">Ménière disease</a></li>
<li>Auricular fibrillation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation/">Familial atrial fibrillation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome/">Auriculo-condylar syndrome</a></li>
<li>Auriculobranchiogenic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li>
<li>Auriculocondylar syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/auriculo-condylar-syndrome/">Auriculo-condylar syndrome</a></li>
<li>Austin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-sulfatase-deficiency/">Multiple sulfatase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li>
<li>Autism, susceptibility to, 14A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/">16p11.2 deletion syndrome</a></li>
<li>Autism, susceptibility to, 14B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li>
<li>Autism-dementia-ataxia-loss of purposeful hand use syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rett-syndrome/">Rett syndrome</a></li>
<li>Autistic continuum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li>
<li>Autoimmune Addison&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li>
<li>Autoimmune adrenalitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li>
<li>Autoimmune chronic lymphocytic thyroiditis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto&#x27;s disease</a></li>
<li>Autoimmune diabetes, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-1-diabetes/">Type 1 diabetes</a></li>
<li>Autoimmune hyperthyroidism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/graves-disease/">Graves&#x27; disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/">Autoimmune lymphoproliferative syndrome</a></li>
<li>Autoimmune polyendocrinopathy syndrome type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Autoimmune polyglandular syndrome, type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Autoimmune thrombocytopenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/">Immune thrombocytopenia</a></li>
<li>Autoimmune thrombocytopenic purpura, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/">Immune thrombocytopenia</a></li>
<li>Autoimmune thyroiditis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto&#x27;s disease</a></li>
<li>Autoimmunity-immunodeficiency 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>Autoinflammation, lipodystrophy, and dermatosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome/">Nakajo-Nishimura syndrome</a></li>
<li>Autoinflammation, panniculitis, and dermatosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/otulipenia/">Otulipenia</a></li>
<li>Autosomal dominant acute necrotizing encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li>Autosomal dominant adult-onset demyelinating leukodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li>
<li>Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy/">Autosomal dominant cerebellar ataxia, deafness, and narcolepsy</a></li>
<li>Autosomal dominant cerebrovascular amyloidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/">Hereditary cerebral amyloid angiopathy</a></li>
<li>Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy-with-lower-extremity-predominance/">Spinal muscular atrophy with lower extremity predominance</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-congenital-stationary-night-blindness/">Autosomal dominant congenital stationary night blindness</a></li>
<li>Autosomal dominant craniometaphyseal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li>Autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome/">Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome</a></li>
<li>Autosomal dominant familial periodic fever, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome/">Tumor necrosis factor receptor-associated periodic syndrome</a></li>
<li>Autosomal dominant hereditary pancreatitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-pancreatitis/">Hereditary pancreatitis</a></li>
<li>Autosomal dominant hereditary sensory radicular neuropathy, type 1A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia/">Hereditary sensory neuropathy type IA</a></li>
<li>Autosomal dominant HIES, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li>Autosomal dominant hyaline body myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myosin-storage-myopathy/">Myosin storage myopathy</a></li>
<li>Autosomal dominant hyper-IgE recurrent infection syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li>Autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li>
<li>Autosomal dominant hypoparathyroidism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia/">Autosomal dominant hypocalcemia</a></li>
<li>Autosomal dominant intellectual disability 25, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome/">Xia-Gibbs syndrome</a></li>
<li>Autosomal dominant intellectual disability-17, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pacs1-syndrome/">PACS1 syndrome</a></li>
<li>Autosomal dominant interstitial kidney disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1/">Medullary cystic kidney disease type 1</a></li>
<li>Autosomal dominant Job syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-hyper-ige-syndrome/">Autosomal dominant hyper-IgE syndrome</a></li>
<li>Autosomal dominant lateral temporal lobe epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease/">Autosomal dominant leukodystrophy with autonomic disease</a></li>
<li>Autosomal dominant medullary cystic kidney disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1/">Medullary cystic kidney disease type 1</a></li>
<li>Autosomal dominant medullary cystic kidney disease 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li>Autosomal dominant mental retardation 35, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ppp2r5d-related-intellectual-disability/">PPP2R5D-related intellectual disability</a></li>
<li>Autosomal dominant MYH9 spectrum disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myh9-related-disorder/">MYH9-related disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/">Autosomal dominant nocturnal frontal lobe epilepsy</a></li>
<li>Autosomal dominant Opitz G/BBB syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
<li>Autosomal 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/autosomal-dominant-optic-atrophy-and-cataract/">Autosomal dominant optic atrophy and cataract</a></li>
<li>Autosomal dominant optic atrophy Kjer type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/optic-atrophy-type-1/">Optic atrophy type 1</a></li>
<li>Autosomal dominant optic atrophy type 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract/">Autosomal dominant optic atrophy and cataract</a></li>
<li>Autosomal dominant partial epilepsy with auditory features, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
<li>Autosomal dominant porencephaly type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-porencephaly/">Familial porencephaly</a></li>
<li>Autosomal dominant spastic paraplegia 31, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31/">Spastic paraplegia type 31</a></li>
<li>Autosomal dominant spastic paraplegia 8, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-8/">Spastic paraplegia type 8</a></li>
<li>Autosomal dominant tubulointerstitial kidney disease 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li>Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-tubulointerstitial-kidney-disease-umod/">Autosomal dominant tubulointerstitial kidney disease-UMOD</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy/">Autosomal dominant vitreoretinochoroidopathy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li>
<li>Autosomal recessive cerebellar ataxia with mental retardation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
<li>Autosomal recessive cerebellar hypoplasia with cerebral gyral simplification, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
<li>Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li>
<li>Autosomal recessive chronic granulomatous disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/">Chronic granulomatous disease</a></li>
<li>Autosomal recessive complete congenital stationary night blindness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li>
<li>Autosomal recessive congenital ichthyosis 4B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/">Harlequin ichthyosis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li>
<li>Autosomal recessive craniometaphyseal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
<li>Autosomal recessive deafness-onychodystrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
<li>Autosomal recessive distal renal tubular acidosis with deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-tubular-acidosis-with-deafness/">Renal tubular acidosis with deafness</a></li>
<li>Autosomal recessive distal spinal muscular atrophy 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>Autosomal recessive dopa-responsive dystonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li>
<li>Autosomal recessive HIES, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
<li>Autosomal recessive hyper-IgE syndrome, <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/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li>
<li>Autosomal recessive incomplete congenital stationary night blindness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-stationary-night-blindness/">Autosomal recessive congenital stationary night blindness</a></li>
<li>Autosomal recessive infantile hypercalcemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/idiopathic-infantile-hypercalcemia/">Idiopathic infantile hypercalcemia</a></li>
<li>Autosomal recessive infantile parkinsonism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li>
<li>Autosomal recessive Larsen syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia/">CHST3-related skeletal dysplasia</a></li>
<li>Autosomal recessive localized hypotrichosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li>
<li>Autosomal recessive long QT syndrome (LQTS), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li>
<li>Autosomal recessive neuromyotonia and axonal neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/">Autosomal recessive axonal neuropathy with neuromyotonia</a></li>
<li>Autosomal recessive OPA3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
<li>Autosomal recessive optic atrophy 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly/">Autosomal recessive primary microcephaly</a></li>
<li>Autosomal recessive Segawa syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tyrosine-hydroxylase-deficiency/">Tyrosine hydroxylase deficiency</a></li>
<li>Autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pendred-syndrome/">Pendred syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/">Autosomal recessive spastic ataxia of Charlevoix-Saguenay</a></li>
<li>Autosomal recessive spastic paraplegia 15, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15/">Spastic paraplegia type 15</a></li>
<li>Autosomal recessive spastic paraplegia 5A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a/">Spastic paraplegia type 5A</a></li>
<li>Autosomal recessive spastic paraplegia complicated with thin corpus callosum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11/">Spastic paraplegia type 11</a></li>
<li>Autosomal recessive spastic paraplegia type 20, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/troyer-syndrome/">Troyer syndrome</a></li>
<li>Autosomal recessive spastic paraplegia type 49, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-49/">Spastic paraplegia type 49</a></li>
<li>Autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-11/">Spastic paraplegia type 11</a></li>
<li>Autosomal recessive spinocerebellar ataxia 8, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/">Autosomal recessive cerebellar ataxia type 1</a></li>
<li>Autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/">JAK3-deficient severe combined immunodeficiency</a></li>
<li>Autosomal recessive T-B+NK- SCID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/">JAK3-deficient severe combined immunodeficiency</a></li>
<li>Autosomal recessive woolly hair with or without hypotrichosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis/">Autosomal recessive hypotrichosis</a></li>
<li>AUTS14A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-deletion-syndrome/">16p11.2 deletion syndrome</a></li>
<li>AUTS14B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p112-duplication/">16p11.2 duplication</a></li>
<li>AVED, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-with-vitamin-e-deficiency/">Ataxia with vitamin E deficiency</a></li>
<li>AxD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alexander-disease/">Alexander disease</a></li>
<li>Axenfeld and Rieger anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>Axenfeld anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>Axenfeld syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>axial spondylarthritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ankylosing-spondylitis/">Ankylosing spondylitis</a></li>
<li>AXRA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>AXRS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome/">Axenfeld-Rieger syndrome</a></li>
<li>Ayerza syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li>Azorean ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3/">Spinocerebellar ataxia type 3</a></li>
<li>Azorean disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-3/">Spinocerebellar ataxia type 3</a></li>
</ul>
</section>
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