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<span>Genetic Conditions: C</span>
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<h1>Genetic Conditions: C</h1>
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<p>Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.</p>
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<span class='blue-label'>Other genetic conditions A-Z</span>
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<ul class="alpha-links">
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<li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition/" data-alpha="A">A</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
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<li><span class="active">C</span></li>
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<li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
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||
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<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
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||
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<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
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||
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<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
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||
|
||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
|
||
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||
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<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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</section>
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<section>
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<ul class="withident breaklist">
|
||
|
||
<li>C-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome/">Bohring-Opitz syndrome</a></li>
|
||
|
||
|
||
<li>C1 esterase inhibitor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-angioedema/">Hereditary angioedema</a></li>
|
||
|
||
|
||
<li>C1 inhibitor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-angioedema/">Hereditary angioedema</a></li>
|
||
|
||
|
||
<li>C2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/">Complement component 2 deficiency</a></li>
|
||
|
||
|
||
<li>C2D, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/">Complement component 2 deficiency</a></li>
|
||
|
||
|
||
<li>C3 glomerulonephritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
<li>C3 inactivator deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/">Complement factor I deficiency</a></li>
|
||
|
||
|
||
<li>C3G, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/c3-glomerulopathy/">C3 glomerulopathy</a></li>
|
||
|
||
|
||
<li>C8 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-component-8-deficiency/">Complement component 8 deficiency</a></li>
|
||
|
||
|
||
<li>CA-VA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency/">Carbonic anhydrase VA deficiency</a></li>
|
||
|
||
|
||
<li>CA5AD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carbonic-anhydrase-va-deficiency/">Carbonic anhydrase VA deficiency</a></li>
|
||
|
||
|
||
<li>CAA, familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/">Hereditary cerebral amyloid angiopathy</a></li>
|
||
|
||
|
||
<li>CACH syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/">Leukoencephalopathy with vanishing white matter</a></li>
|
||
|
||
|
||
<li>CACT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/">Carnitine-acylcarnitine translocase deficiency</a></li>
|
||
|
||
|
||
<li>CADASIL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/caffey-disease/">Caffey disease</a></li>
|
||
|
||
<li>Caffey-Silverman syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caffey-disease/">Caffey disease</a></li>
|
||
|
||
|
||
<li>CAH1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/">21-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>CAHTP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome/">Brain-lung-thyroid syndrome</a></li>
|
||
|
||
|
||
<li>CAID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia/">Chronic atrial and intestinal dysrhythmia</a></li>
|
||
|
||
|
||
<li>CAKUT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract/">Congenital anomalies of kidney and urinary tract</a></li>
|
||
|
||
|
||
<li>Calcifying epithelioma of Malherbe, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pilomatricoma/">Pilomatricoma</a></li>
|
||
|
||
|
||
<li>Calculus of kidney, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kidney-stones/">Kidney stones</a></li>
|
||
|
||
|
||
<li>Calculus, kidney, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kidney-stones/">Kidney stones</a></li>
|
||
|
||
|
||
<li>Calculus, renal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kidney-stones/">Kidney stones</a></li>
|
||
|
||
|
||
<li>Callosal agenesis and ocular abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
|
||
|
||
|
||
<li>Campomelic dwarfism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/campomelic-dysplasia/">Campomelic dysplasia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/campomelic-dysplasia/">Campomelic dysplasia</a></li>
|
||
|
||
<li>Campomelic syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/campomelic-dysplasia/">Campomelic dysplasia</a></li>
|
||
|
||
|
||
<li>Camptodactyly-overgrowth-unusual facies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/weaver-syndrome/">Weaver syndrome</a></li>
|
||
|
||
|
||
<li>Camptomelic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/campomelic-dysplasia/">Campomelic dysplasia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
<li>Camurati-Engelmann syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li>CAN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome-with-acanthosis-nigricans/">Crouzon syndrome with acanthosis nigricans</a></li>
|
||
|
||
|
||
<li>Canale-Smith syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferative-syndrome/">Autoimmune lymphoproliferative syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
|
||
|
||
<li>Canavan's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/canavan-disease/">Canavan disease</a></li>
|
||
|
||
|
||
<li>Cancer family syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lynch-syndrome/">Lynch syndrome</a></li>
|
||
|
||
|
||
<li>Cancer of breast, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/breast-cancer/">Breast cancer</a></li>
|
||
|
||
|
||
<li>Cancer of bronchus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lung-cancer/">Lung cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the lung, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lung-cancer/">Lung cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the ovary, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ovarian-cancer/">Ovarian cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the parathyroid, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the parathyroid gland, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the prostate, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
|
||
|
||
|
||
<li>Cancer of the urinary bladder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bladder-cancer/">Bladder cancer</a></li>
|
||
|
||
|
||
<li>Cancer, bladder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bladder-cancer/">Bladder cancer</a></li>
|
||
|
||
|
||
<li>Cancer, urinary bladder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bladder-cancer/">Bladder cancer</a></li>
|
||
|
||
|
||
<li>Candle wax disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/melorheostosis/">Melorheostosis</a></li>
|
||
|
||
|
||
<li>Cannon's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/white-sponge-nevus/">White sponge nevus</a></li>
|
||
|
||
|
||
<li>Cantu syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cantu-syndrome/">Cantú syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cantu-syndrome/">Cantú syndrome</a></li>
|
||
|
||
<li>Cap disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cap-myopathy/">Cap myopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cap-myopathy/">Cap myopathy</a></li>
|
||
|
||
<li>Capillary malformation-arteriovenous malformation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/">Capillary malformation-arteriovenous malformation syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/">Capillary malformation-arteriovenous malformation syndrome</a></li>
|
||
|
||
<li>CAPS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cryopyrin-associated-periodic-syndromes/">Cryopyrin-associated periodic syndromes </a></li>
|
||
|
||
|
||
<li>CARASIL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/">Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/">Carbamoyl phosphate synthetase I deficiency</a></li>
|
||
|
||
<li>Carbamoyl-phosphate synthase I deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/">Carbamoyl phosphate synthetase I deficiency</a></li>
|
||
|
||
|
||
<li>Carbamyl-phosphate synthetase I deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/">Carbamoyl phosphate synthetase I deficiency</a></li>
|
||
|
||
|
||
<li>Carbohydrate deficient glycoprotein syndrome type IIi, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Carbohydrate deficient glycoprotein syndrome type Ik, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Carbohydrate intolerance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption/">Glucose-galactose malabsorption</a></li>
|
||
|
||
|
||
<li>Carbohydrate-deficient glycoprotein syndrome type Ia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Carbohydrate-deficient glycoprotein syndrome type Ic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Carbohydrate-deficient glycoprotein syndrome type V, <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/carbonic-anhydrase-va-deficiency/">Carbonic anhydrase VA deficiency</a></li>
|
||
|
||
<li>Carbonic anhydrase XII deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-hyperchlorhidrosis/">Isolated hyperchlorhidrosis</a></li>
|
||
|
||
|
||
<li>Carboxylase deficiency, multiple, late-onset, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/biotinidase-deficiency/">Biotinidase deficiency</a></li>
|
||
|
||
|
||
<li>Carcinoma of parathyroid gland, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
|
||
|
||
|
||
<li>Cardiac anomalies-developmental delay-facial dysmorphism syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/med13l-syndrome/">MED13L syndrome</a></li>
|
||
|
||
|
||
<li>Cardiac arrhythmia, ankyrin-B-related, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ankyrin-b-syndrome/">Ankyrin-B syndrome</a></li>
|
||
|
||
|
||
<li>Cardiac-limb syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/holt-oram-syndrome/">Holt-Oram syndrome</a></li>
|
||
|
||
|
||
<li>Cardio-auditory-syncope syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li>
|
||
|
||
|
||
<li>Cardio-cutaneous syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines/">Noonan syndrome with multiple lentigines</a></li>
|
||
|
||
|
||
<li>Cardio-facio-cutaneous syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cardiofaciocutaneous-syndrome/">Cardiofaciocutaneous syndrome</a></li>
|
||
|
||
|
||
<li>Cardioauditory syndrome of Jervell and Lange-Nielsen, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cardiofaciocutaneous-syndrome/">Cardiofaciocutaneous syndrome</a></li>
|
||
|
||
<li>Cardiomyopathic lentiginosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/noonan-syndrome-with-multiple-lentigines/">Noonan syndrome with multiple lentigines</a></li>
|
||
|
||
|
||
<li>Cardiomyopathy, restrictive, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy/">Familial restrictive cardiomyopathy</a></li>
|
||
|
||
|
||
<li>Cardioskeletal myopathy with neutropenia and abnormal mitochondria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/barth-syndrome/">Barth syndrome</a></li>
|
||
|
||
|
||
<li>Cardiovertebral syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
|
||
|
||
|
||
<li>Carmi syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/">Epidermolysis bullosa with pyloric atresia</a></li>
|
||
|
||
|
||
<li>Carnevale syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
|
||
|
||
|
||
<li>Carnevale-Krajewska-Fischetto syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carney-complex/">Carney complex</a></li>
|
||
|
||
<li>Carney Syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carney-complex/">Carney complex</a></li>
|
||
|
||
|
||
<li>Carnitine acylcarnitine translocase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/">Carnitine-acylcarnitine translocase deficiency</a></li>
|
||
|
||
|
||
<li>Carnitine palmitoyltransferase 2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/">Carnitine palmitoyltransferase II deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/">Carnitine palmitoyltransferase I deficiency</a></li>
|
||
|
||
<li>Carnitine palmitoyltransferase IA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/">Carnitine palmitoyltransferase I deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/">Carnitine palmitoyltransferase II deficiency</a></li>
|
||
|
||
<li>Carnitine transporter deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/">Primary carnitine deficiency</a></li>
|
||
|
||
|
||
<li>Carnitine uptake defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/">Primary carnitine deficiency</a></li>
|
||
|
||
|
||
<li>Carnitine uptake deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/">Primary carnitine deficiency</a></li>
|
||
|
||
|
||
<li>Carnitine-acylcarnitine carrier deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/">Carnitine-acylcarnitine translocase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carnitine-acylcarnitine-translocase-deficiency/">Carnitine-acylcarnitine translocase deficiency</a></li>
|
||
|
||
<li>Carpal canal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>Carpal synostosis with dysplastic elbow joints and brachydactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/liebenberg-syndrome/">Liebenberg syndrome</a></li>
|
||
|
||
|
||
<li>Carpal tunnel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/carpenter-syndrome/">Carpenter syndrome</a></li>
|
||
|
||
<li>Carsickness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/motion-sickness/">Motion sickness</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia/">Cartilage-hair hypoplasia</a></li>
|
||
|
||
<li>Cartilage-hair syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia/">Cartilage-hair hypoplasia</a></li>
|
||
|
||
|
||
<li>CASK-related disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cask-related-intellectual-disability/">CASK-related intellectual disability</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cask-related-intellectual-disability/">CASK-related intellectual disability</a></li>
|
||
|
||
<li>Cat cry syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/">Cri-du-chat syndrome</a></li>
|
||
|
||
|
||
<li>Catalase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acatalasemia/">Acatalasemia</a></li>
|
||
|
||
|
||
<li>CATCH22, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Catecholamine-induced polymorphic ventricular tachycardia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia/">Catecholaminergic polymorphic ventricular tachycardia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia/">Catecholaminergic polymorphic ventricular tachycardia</a></li>
|
||
|
||
<li>Cathepsin D deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln10-disease/">CLN10 disease</a></li>
|
||
|
||
|
||
<li>Cathepsin D deficient neuronal ceroid lipofuscinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln10-disease/">CLN10 disease</a></li>
|
||
|
||
|
||
<li>Catlin marks, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
|
||
|
||
|
||
<li>CATSPER-related nonsyndromic male infertility, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/">CATSPER1-related nonsyndromic male infertility</a></li>
|
||
|
||
|
||
<li>CATSPER1-related male infertility, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/">CATSPER1-related nonsyndromic male infertility</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/catsper1-related-nonsyndromic-male-infertility/">CATSPER1-related nonsyndromic male infertility</a></li>
|
||
|
||
<li>Caudal dysgenesis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/">Caudal regression syndrome</a></li>
|
||
|
||
|
||
<li>Caudal dysplasia sequence, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/">Caudal regression syndrome</a></li>
|
||
|
||
|
||
<li>Caudal regression sequence, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/">Caudal regression syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/">Caudal regression syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cav3-related-distal-myopathy/">CAV3-related distal myopathy</a></li>
|
||
|
||
<li>CAVD, <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>Cavernoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
|
||
<li>Cavernous angioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
|
||
<li>Cayler cardiofacial syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>CBAS1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/">Congenital bile acid synthesis defect type 1</a></li>
|
||
|
||
|
||
<li>CBAS2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-2/">Congenital bile acid synthesis defect type 2</a></li>
|
||
|
||
|
||
<li>CBAVD, <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>CBF acute myeloid leukemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia/">Core binding factor acute myeloid leukemia</a></li>
|
||
|
||
|
||
<li>CBF-AML, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia/">Core binding factor acute myeloid leukemia</a></li>
|
||
|
||
|
||
<li>CBG deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosteroid-binding-globulin-deficiency/">Corticosteroid-binding globulin deficiency</a></li>
|
||
|
||
|
||
<li>CC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
|
||
<li>CC2L, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clcn2-related-leukoencephalopathy/">CLCN2-related leukoencephalopathy</a></li>
|
||
|
||
|
||
<li>CCA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
|
||
|
||
|
||
<li>CCD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/central-core-disease/">Central core disease</a></li>
|
||
|
||
|
||
<li>CCFDN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy/">Congenital cataracts, facial dysmorphism, and neuropathy</a></li>
|
||
|
||
|
||
<li>CCHD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease/">Critical congenital heart disease</a></li>
|
||
|
||
|
||
<li>CCHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome/">Congenital central hypoventilation syndrome</a></li>
|
||
|
||
|
||
<li>CCM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
|
||
<li>CCO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/central-core-disease/">Central core disease</a></li>
|
||
|
||
|
||
<li>CCS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome/">CYLD cutaneous syndrome</a></li>
|
||
|
||
|
||
<li>CD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
|
||
<li>CDA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/">Congenital dyserythropoietic anemia</a></li>
|
||
|
||
|
||
<li>CDC73-related disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperparathyroidism-jaw-tumor-syndrome/">Hyperparathyroidism-jaw tumor syndrome</a></li>
|
||
|
||
|
||
<li>CDG Ia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG Ig, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG IIi, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG IIm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG Iq, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/srd5a3-congenital-disorder-of-glycosylation/">SRD5A3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG syndrome type Ic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG syndrome type IIm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG-IIm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG-Iq, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/srd5a3-congenital-disorder-of-glycosylation/">SRD5A3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG1a, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG1C, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG1G, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG1K, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG1M, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG2I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDG2M, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDGIc, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDGIIi, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDGIIm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDGIk, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDGS1a, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CDHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome/">Craniofacial-deafness-hand syndrome</a></li>
|
||
|
||
|
||
<li>CDKL5 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
<li>CDKL5 disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li>CDKL5 encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li>CDKL5-related epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li>CDKL5-related epileptic encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li>CdLS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/">Cornelia de Lange syndrome</a></li>
|
||
|
||
|
||
<li>CDMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia/">CHST3-related skeletal dysplasia</a></li>
|
||
|
||
|
||
<li>CDPX1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/">X-linked chondrodysplasia punctata 1</a></li>
|
||
|
||
|
||
<li>CDPX2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2/">X-linked chondrodysplasia punctata 2</a></li>
|
||
|
||
|
||
<li>CDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
|
||
<li>CEBALID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mn1-c-terminal-truncation-syndrome/">MN1 C-terminal truncation syndrome</a></li>
|
||
|
||
|
||
<li>CEBPA-dependent familial acute myeloid leukemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/">Familial acute myeloid leukemia with mutated CEBPA</a></li>
|
||
|
||
|
||
<li>CED, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cranioectodermal-dysplasia/">Cranioectodermal dysplasia</a></li>
|
||
|
||
|
||
<li>CED, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/celiac-disease/">Celiac disease</a></li>
|
||
|
||
<li>Celiac sprue, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/celiac-disease/">Celiac disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/central-core-disease/">Central core disease</a></li>
|
||
|
||
<li>Central core myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/central-core-disease/">Central core disease</a></li>
|
||
|
||
|
||
<li>Central diabetes insipidus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
|
||
|
||
|
||
<li>Central nervous system cavernous hemangioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
|
||
<li>Central neurofibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/">Neurofibromatosis type 2</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/central-precocious-puberty/">Central precocious puberty</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/centronuclear-myopathy/">Centronuclear myopathy</a></li>
|
||
|
||
<li>Cephalopolysyndactyly syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/greig-cephalopolysyndactyly-syndrome/">Greig cephalopolysyndactyly syndrome</a></li>
|
||
|
||
|
||
<li>Ceramidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/">Farber lipogranulomatosis</a></li>
|
||
|
||
|
||
<li>Ceramide trihexosidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fabry-disease/">Fabry disease</a></li>
|
||
|
||
|
||
<li>Cerebellar ataxia and hypogonadotropic hypogonadism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome/">Gordon Holmes syndrome</a></li>
|
||
|
||
|
||
<li>Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/">Boucher-Neuhäuser syndrome</a></li>
|
||
|
||
|
||
<li>Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, <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>Cerebellar disorder, nonprogressive, with mental retardation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>Cerebellar hypoplasia, VLDLR-associated, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>Cerebello-oculo-renal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">Joubert syndrome</a></li>
|
||
|
||
|
||
<li>Cerebellooculorenal syndrome 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">Joubert syndrome</a></li>
|
||
|
||
|
||
<li>Cerebelloretinal angiomatosis, familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/von-hippel-lindau-syndrome/">Von Hippel-Lindau syndrome</a></li>
|
||
|
||
|
||
<li>Cerebral amyloid angiopathy, familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/">Hereditary cerebral amyloid angiopathy</a></li>
|
||
|
||
|
||
<li>Cerebral amyloid angiopathy, genetic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/">Hereditary cerebral amyloid angiopathy</a></li>
|
||
|
||
|
||
<li>Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy/">Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy</a></li>
|
||
|
||
<li>Cerebral cavernous hemangioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation/">Cerebral cavernous malformation</a></li>
|
||
|
||
<li>Cerebral cholesterinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
|
||
<li>Cerebral creatine deficiency syndrome 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li>
|
||
|
||
|
||
<li>Cerebral folate deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency/">Cerebral folate transport deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency/">Cerebral folate transport deficiency</a></li>
|
||
|
||
<li>Cerebral gigantism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sotos-syndrome/">Sotos syndrome</a></li>
|
||
|
||
|
||
<li>Cerebral sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tuberous-sclerosis-complex/">Tuberous sclerosis complex</a></li>
|
||
|
||
|
||
<li>Cerebral sclerosis, diffuse, metachromatic form, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
|
||
|
||
<li>Cerebro-frontofacial syndrome, type 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome/">Baraitser-Winter syndrome</a></li>
|
||
|
||
|
||
<li>Cerebrofaciothoracic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
|
||
|
||
|
||
<li>Cerebrohepatorenal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/">Zellweger spectrum disorder</a></li>
|
||
|
||
|
||
<li>Cerebroocular dysplasia-muscular dystrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/walker-warburg-syndrome/">Walker-Warburg syndrome</a></li>
|
||
|
||
|
||
<li>Cerebrooculorenal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lowe-syndrome/">Lowe syndrome</a></li>
|
||
|
||
|
||
<li>Cerebroretinal microangiopathy with calcifications and cysts, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coats-plus-syndrome/">Coats plus syndrome</a></li>
|
||
|
||
|
||
<li>Cerebroside lipidosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gaucher-disease/">Gaucher disease</a></li>
|
||
|
||
|
||
<li>Cerebroside sulphatase deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/metachromatic-leukodystrophy/">Metachromatic leukodystrophy</a></li>
|
||
|
||
|
||
<li>Cerebrotendinous cholesterinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
<li>Cerebrovascular ferrocalcinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification/">Primary familial brain calcification</a></li>
|
||
|
||
|
||
<li>Cerebrovascular moyamoya disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/moyamoya-disease/">Moyamoya disease</a></li>
|
||
|
||
|
||
<li>Ceroid lipofuscinosis neuronal 6, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln6-disease/">CLN6 disease</a></li>
|
||
|
||
|
||
<li>Ceroid lipofuscinosis, neuronal, 11, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln11-disease/">CLN11 disease</a></li>
|
||
|
||
|
||
<li>Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li>
|
||
|
||
|
||
<li>Cervical fusion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/">Klippel-Feil syndrome</a></li>
|
||
|
||
|
||
<li>Cervical vertebral fusion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/">Klippel-Feil syndrome</a></li>
|
||
|
||
|
||
<li>Cervical vertebral fusion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/">Klippel-Feil syndrome</a></li>
|
||
|
||
|
||
<li>CF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cystic-fibrosis/">Cystic fibrosis</a></li>
|
||
|
||
|
||
<li>CFC syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cardiofaciocutaneous-syndrome/">Cardiofaciocutaneous syndrome</a></li>
|
||
|
||
|
||
<li>CFD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>CFEOM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/">Congenital fibrosis of the extraocular muscles</a></li>
|
||
|
||
|
||
<li>CFM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li>
|
||
|
||
|
||
<li>CFND, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/">Craniofrontonasal syndrome</a></li>
|
||
|
||
|
||
<li>CFNS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/">Craniofrontonasal syndrome</a></li>
|
||
|
||
|
||
<li>CFSMR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
|
||
|
||
|
||
<li>CFTD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion/">Congenital fiber-type disproportion</a></li>
|
||
|
||
|
||
<li>CFTD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
|
||
|
||
|
||
<li>CFTDM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion/">Congenital fiber-type disproportion</a></li>
|
||
|
||
|
||
<li>CGD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/">Chronic granulomatous disease</a></li>
|
||
|
||
|
||
<li>CGL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
|
||
<li>CH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/">Congenital hypothyroidism</a></li>
|
||
|
||
|
||
<li>CHAC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chorea-acanthocytosis/">Chorea-acanthocytosis</a></li>
|
||
|
||
|
||
<li>Chanarin-Dorfman disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome/">Chanarin-Dorfman syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/channelopathy-associated-congenital-insensitivity-to-pain/">Channelopathy-associated congenital insensitivity to pain</a></li>
|
||
|
||
<li>Channelopathy-associated insensitivity to 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><a href="https://medlineplus.gov/genetics/condition/char-syndrome/">Char syndrome</a></li>
|
||
|
||
<li>Charcot disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis/">Amyotrophic lateral sclerosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
|
||
|
||
<li>Charcot-Marie-Tooth hereditary neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
|
||
|
||
|
||
<li>Charcot-Marie-Tooth syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
|
||
|
||
|
||
<li>CHARGE association, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charge-syndrome/">CHARGE syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/charge-syndrome/">CHARGE syndrome</a></li>
|
||
|
||
<li>Charlevoix disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/andermann-syndrome/">Andermann syndrome</a></li>
|
||
|
||
|
||
<li>Charlevoix-Saguenay spastic ataxia, <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>CHD2 encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy/">CHD2 myoclonic encephalopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy/">CHD2 myoclonic encephalopathy</a></li>
|
||
|
||
<li>CHD2-related neurodevelopmental disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chd2-myoclonic-encephalopathy/">CHD2 myoclonic encephalopathy</a></li>
|
||
|
||
|
||
<li>CHDM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chordoma/">Chordoma</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome/">Chediak-Higashi syndrome</a></li>
|
||
|
||
<li>Chediak-Steinbrinck-Higashi syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome/">Chediak-Higashi syndrome</a></li>
|
||
|
||
|
||
<li>Chemke syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/walker-warburg-syndrome/">Walker-Warburg syndrome</a></li>
|
||
|
||
|
||
<li>Chemodectoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-paraganglioma/">Nonsyndromic paraganglioma</a></li>
|
||
|
||
|
||
<li>Cheney syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
|
||
|
||
|
||
<li>Cherry red spot myoclonus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sialidosis/">Sialidosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cherubism/">Cherubism</a></li>
|
||
|
||
<li>Cheveux incoiffables, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome/">Uncombable hair syndrome</a></li>
|
||
|
||
|
||
<li>CHF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis/">Congenital hepatic fibrosis</a></li>
|
||
|
||
|
||
<li>CHH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia/">Cartilage-hair hypoplasia</a></li>
|
||
|
||
|
||
<li>CHILD nevus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/child-syndrome/">CHILD syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/child-syndrome/">CHILD syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li>
|
||
|
||
<li>Childhood ataxia with central nervous system hypomyelination, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/">Leukoencephalopathy with vanishing white matter</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/childhood-myocerebrohepatopathy-spectrum/">Childhood myocerebrohepatopathy spectrum</a></li>
|
||
|
||
<li>Childhood-onset polyarteritis nodosa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-deaminase-2-deficiency/">Adenosine deaminase 2 deficiency</a></li>
|
||
|
||
|
||
<li>Childhood-onset primary osteoporosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-primary-osteoporosis/">Juvenile primary osteoporosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/">CHMP2B-related frontotemporal dementia</a></li>
|
||
|
||
<li>CHMRQ1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/">VLDLR-associated cerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/burn-mckeown-syndrome/">Burn-McKeown syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
<li>Cholangiocarcinoma of biliary tract, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
|
||
<li>Cholangiocellular carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
|
||
<li>Cholestanol storage disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
|
||
<li>Cholestanolosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
|
||
<li>Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-2/">Congenital bile acid synthesis defect type 2</a></li>
|
||
|
||
|
||
<li>Cholestasis with peripheral pulmonary stenosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
|
||
|
||
|
||
<li>Cholesterol thesaurismosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tangier-disease/">Tangier disease</a></li>
|
||
|
||
|
||
<li>Cholinesterase II deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/">Pseudocholinesterase deficiency</a></li>
|
||
|
||
|
||
<li>Chondrodysplasia punctata 1, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-1/">X-linked chondrodysplasia punctata 1</a></li>
|
||
|
||
|
||
<li>Chondrodysplasia punctata 2, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2/">X-linked chondrodysplasia punctata 2</a></li>
|
||
|
||
|
||
<li>Chondrodysplasia punctata, rhizomelic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rhizomelic-chondrodysplasia-punctata/">Rhizomelic chondrodysplasia punctata</a></li>
|
||
|
||
|
||
<li>Chondrodysplasia with hemangioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/maffucci-syndrome/">Maffucci syndrome</a></li>
|
||
|
||
|
||
<li>Chondrodysplasia with multiple dislocations, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia/">CHST3-related skeletal dysplasia</a></li>
|
||
|
||
|
||
<li>Chondrodystrophic myotonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome/">Schwartz-Jampel syndrome</a></li>
|
||
|
||
|
||
<li>Chondrodystrophy with sensorineural deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/otospondylomegaepiphyseal-dysplasia/">Otospondylomegaepiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Chondrodystrophy, hydropic and prenatally lethal type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/greenberg-dysplasia/">Greenberg dysplasia</a></li>
|
||
|
||
|
||
<li>Chondroectodermal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome/">Ellis-van Creveld syndrome</a></li>
|
||
|
||
|
||
<li>Chondroectodermal dysplasia-like syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy/">Asphyxiating thoracic dystrophy</a></li>
|
||
|
||
|
||
<li>Chondroplasia angiomatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/maffucci-syndrome/">Maffucci syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chops-syndrome/">CHOPS syndrome</a></li>
|
||
|
||
<li>Chordocarcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chordoma/">Chordoma</a></li>
|
||
|
||
|
||
<li>Chordoepithelioma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chordoma/">Chordoma</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chordoma/">Chordoma</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chorea-acanthocytosis/">Chorea-acanthocytosis</a></li>
|
||
|
||
<li>Choreoacanthocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chorea-acanthocytosis/">Chorea-acanthocytosis</a></li>
|
||
|
||
|
||
<li>Choreoathetosis self-mutilation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
|
||
|
||
|
||
<li>Choreoathetosis, hypothyroidism, and neonatal respiratory distress, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome/">Brain-lung-thyroid syndrome</a></li>
|
||
|
||
|
||
<li>Chorioretinal anomalies with ACC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-syndrome/">Aicardi syndrome</a></li>
|
||
|
||
|
||
<li>Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/boucher-neuhauser-syndrome/">Boucher-Neuhäuser syndrome</a></li>
|
||
|
||
|
||
<li>Choroidal sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/choroideremia/">Choroideremia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/choroideremia/">Choroideremia</a></li>
|
||
|
||
<li>Chotzen syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome/">Saethre-Chotzen syndrome</a></li>
|
||
|
||
|
||
<li>Chreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/brain-lung-thyroid-syndrome/">Brain-lung-thyroid syndrome</a></li>
|
||
|
||
|
||
<li>Christ-Siemens-Touraine syndrome, <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/christianson-syndrome/">Christianson syndrome</a></li>
|
||
|
||
<li>Chromosome 10q26 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome/">10q26 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 11p11.2 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/">Potocki-Shaffer syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 15q13.3 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/15q133-microdeletion/">15q13.3 microdeletion</a></li>
|
||
|
||
|
||
<li>Chromosome 15q15.3 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/deafness-infertility-syndrome/">Deafness-infertility syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 16p12.1 deletion syndrome, 520-kb, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/16p122-microdeletion/">16p12.2 microdeletion</a></li>
|
||
|
||
|
||
<li>Chromosome 17p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/">Smith-Magenis syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 17p11.2 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 17q12 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17q12-duplication/">17q12 duplication</a></li>
|
||
|
||
|
||
<li>Chromosome 17q21.31 microdeletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome/">Koolen-de Vries syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18 long arm deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18 long arm deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18q monosomy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18q monosomy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 18q- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/distal-18q-deletion-syndrome/">Distal 18q deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 19p13.13 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome/">19p13.13 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 1p36 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome/">1p36 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 1q21.1 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microdeletion/">1q21.1 microdeletion</a></li>
|
||
|
||
|
||
<li>Chromosome 1q21.1 deletion syndrome, 1.35-Mb, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/1q211-microdeletion/">1q21.1 microdeletion</a></li>
|
||
|
||
|
||
<li>Chromosome 1q21.1 deletion syndrome, 200-KB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/thrombocytopenia-absent-radius-syndrome/">Thrombocytopenia-absent radius syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 22q11.2 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-duplication/">22q11.2 duplication</a></li>
|
||
|
||
|
||
<li>Chromosome 22q11.2 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-duplication/">22q11.2 duplication</a></li>
|
||
|
||
|
||
<li>Chromosome 2q32-q33 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/satb2-associated-syndrome/">SATB2-associated syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 2q37 deletion syndrome (disorder), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome/">2q37 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 3, deletion 3p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 3, monosomy 3p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 3-linked frontotemporal dementia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/">CHMP2B-related frontotemporal dementia</a></li>
|
||
|
||
|
||
<li>Chromosome 3p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 3q29 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microdeletion-syndrome/">3q29 microdeletion syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 3q29 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3q29-microduplication-syndrome/">3q29 microduplication syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 4p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 4p monosomy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 5p- syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/">Cri-du-chat syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 5q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/5q-minus-syndrome/">5q minus syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 7q11.23 duplication, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/">7q11.23 duplication syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 7q11.23 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/">7q11.23 duplication syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome 8q24.1 deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-ii/">Trichorhinophalangeal syndrome type II</a></li>
|
||
|
||
|
||
<li>Chromosome 9q deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kleefstra-syndrome/">Kleefstra syndrome</a></li>
|
||
|
||
|
||
<li>Chromosome Xq26 microduplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-acrogigantism/">X-linked acrogigantism</a></li>
|
||
|
||
|
||
<li>Chromosome Xq26.3 duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-acrogigantism/">X-linked acrogigantism</a></li>
|
||
|
||
|
||
<li>Chromosome XXXXY syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/49xxxxy-syndrome/">49,XXXXY syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia/">Chronic atrial and intestinal dysrhythmia</a></li>
|
||
|
||
<li>Chronic congenital agenerative anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>Chronic congenital idiopathic hyperphosphatasemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-paget-disease/">Juvenile Paget disease</a></li>
|
||
|
||
|
||
<li>Chronic eosinophilic leukemia with FIP1L1-PDGFRA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia/">PDGFRA-associated chronic eosinophilic leukemia</a></li>
|
||
|
||
|
||
<li>Chronic familial methemoglobin reductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
|
||
|
||
|
||
<li>Chronic granulocytic leukemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/">Chronic granulomatous disease</a></li>
|
||
|
||
<li>Chronic idiopathic intestinal pseudo-obstruction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
|
||
|
||
|
||
<li>Chronic idiopathic jaundice, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome/">Dubin-Johnson syndrome</a></li>
|
||
|
||
|
||
<li>Chronic idiopathic jaundice with pigmented liver, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome/">Dubin-Johnson syndrome</a></li>
|
||
|
||
|
||
<li>Chronic idiopathic myelofibrosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-myelofibrosis/">Primary myelofibrosis</a></li>
|
||
|
||
|
||
<li>Chronic lymphocytic thyroiditides, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto's disease</a></li>
|
||
|
||
|
||
<li>Chronic lymphocytic thyroiditis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hashimotos-disease/">Hashimoto's disease</a></li>
|
||
|
||
|
||
<li>Chronic motor and vocal tic disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/tourette-syndrome/">Tourette syndrome</a></li>
|
||
|
||
|
||
<li>Chronic myelocytic leukemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
|
||
<li>Chronic myelogenous leukemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
<li>Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pdgfrb-associated-chronic-eosinophilic-leukemia/">PDGFRB-associated chronic eosinophilic leukemia</a></li>
|
||
|
||
|
||
<li>Chronic progressive external ophthalmoplegia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia/">Progressive external ophthalmoplegia</a></li>
|
||
|
||
|
||
<li>Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/majeed-syndrome/">Majeed syndrome</a></li>
|
||
|
||
|
||
<li>Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/majeed-syndrome/">Majeed syndrome</a></li>
|
||
|
||
|
||
<li>Chronic relapsing thrombotic thrombocytopenic purpura, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura/">Thrombotic thrombocytopenic purpura</a></li>
|
||
|
||
|
||
<li>CHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome/">Chediak-Higashi syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chst3-related-skeletal-dysplasia/">CHST3-related skeletal dysplasia</a></li>
|
||
|
||
<li>CHT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/">Congenital hypothyroidism</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li>
|
||
|
||
<li>CID due to DOCK8 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
|
||
|
||
|
||
<li>CID due to PGM3 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>CIIP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
|
||
|
||
|
||
<li>CIP, <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>CIP-SCN9A, <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>CIPA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis/">Congenital insensitivity to pain with anhidrosis</a></li>
|
||
|
||
|
||
<li>CIPO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
|
||
|
||
|
||
<li>Cirrhosis, cryptogenic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis/">Cryptogenic cirrhosis</a></li>
|
||
|
||
|
||
<li>CISS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome/">Cold-induced sweating syndrome</a></li>
|
||
|
||
|
||
<li>CIT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/citrullinemia/">Citrullinemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/citrullinemia/">Citrullinemia</a></li>
|
||
|
||
<li>Citrullinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/citrullinemia/">Citrullinemia</a></li>
|
||
|
||
|
||
<li>Classic Addison disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li>
|
||
|
||
|
||
<li>Classic distal renal tubular acidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc4a1-associated-distal-renal-tubular-acidosis/">SLC4A1-associated distal renal tubular acidosis</a></li>
|
||
|
||
|
||
<li>Classic galactosemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/galactosemia/">Galactosemia</a></li>
|
||
|
||
|
||
<li>Classic migraine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/migraine/">Migraine</a></li>
|
||
|
||
|
||
<li>Classic Refsum disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li>
|
||
|
||
|
||
<li>Classical lissencephaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence/">Isolated lissencephaly sequence</a></li>
|
||
|
||
|
||
<li>Claw-shaped nails, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10/">Nonsyndromic congenital nail disorder 10</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/clcn2-related-leukoencephalopathy/">CLCN2-related leukoencephalopathy</a></li>
|
||
|
||
<li>Cleft lip and/or palate with mucous cysts of lower lip, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/van-der-woude-syndrome/">Van der Woude syndrome</a></li>
|
||
|
||
|
||
<li>Cleft spine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spina-bifida/">Spina bifida</a></li>
|
||
|
||
|
||
<li>Clefting, ectropion, and conical teeth, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome/">Blepharocheilodontic syndrome</a></li>
|
||
|
||
|
||
<li>Cleidocranial dysostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/">Cleidocranial dysplasia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia/">Cleidocranial dysplasia</a></li>
|
||
|
||
<li>Clericuzio type poikiloderma with neutropenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poikiloderma-with-neutropenia/">Poikiloderma with neutropenia</a></li>
|
||
|
||
|
||
<li>Clinical depression, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/depression/">Depression</a></li>
|
||
|
||
|
||
<li>CLN1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln1-disease/">CLN1 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln1-disease/">CLN1 disease</a></li>
|
||
|
||
<li>CLN10, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln10-disease/">CLN10 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln10-disease/">CLN10 disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln11-disease/">CLN11 disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln2-disease/">CLN2 disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln3-disease/">CLN3 disease</a></li>
|
||
|
||
<li>CLN3-related neuronal ceroid-lipofuscinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln3-disease/">CLN3 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li>
|
||
|
||
<li>CLN4B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln5-disease/">CLN5 disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln6-disease/">CLN6 disease</a></li>
|
||
|
||
<li>CLN6-related neuronal ceroid lipofuscinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln6-disease/">CLN6 disease</a></li>
|
||
|
||
|
||
<li>CLN7, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln7-disease/">CLN7 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln7-disease/">CLN7 disease</a></li>
|
||
|
||
<li>CLN7 disease, late infantile, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln7-disease/">CLN7 disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cln8-disease/">CLN8 disease</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/clopidogrel-resistance/">Clopidogrel resistance</a></li>
|
||
|
||
<li>Close sighted, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nearsightedness/">Nearsightedness</a></li>
|
||
|
||
|
||
<li>Clouston hidrotic ectodermal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clouston-syndrome/">Clouston syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/clouston-syndrome/">Clouston syndrome</a></li>
|
||
|
||
<li>Clouston's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clouston-syndrome/">Clouston syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/clpb-deficiency/">CLPB deficiency</a></li>
|
||
|
||
<li>CLS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome/">Coffin-Lowry syndrome</a></li>
|
||
|
||
|
||
<li>CM-AVM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/capillary-malformation-arteriovenous-malformation-syndrome/">Capillary malformation-arteriovenous malformation syndrome</a></li>
|
||
|
||
|
||
<li>CMAMMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria/">Combined malonic and methylmalonic aciduria</a></li>
|
||
|
||
|
||
<li>CMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>CMD3B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-dilated-cardiomyopathy/">X-linked dilated cardiomyopathy</a></li>
|
||
|
||
|
||
<li>CMDD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>CMDJ, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>CMDR, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>CML, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-myeloid-leukemia/">Chronic myeloid leukemia</a></li>
|
||
|
||
|
||
<li>CMM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-mirror-movement-disorder/">Congenital mirror movement disorder</a></li>
|
||
|
||
|
||
<li>CMO deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
|
||
<li>CMRD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chylomicron-retention-disease/">Chylomicron retention disease</a></li>
|
||
|
||
|
||
<li>CMS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/">Congenital myasthenic syndrome</a></li>
|
||
|
||
|
||
<li>CMT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
|
||
|
||
|
||
<li>CN-AML, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia/">Cytogenetically normal acute myeloid leukemia</a></li>
|
||
|
||
|
||
<li>CNM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/centronuclear-myopathy/">Centronuclear myopathy</a></li>
|
||
|
||
|
||
<li>CNM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-myotubular-myopathy/">X-linked myotubular myopathy</a></li>
|
||
|
||
|
||
<li>CNTF receptor-related disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome/">Cold-induced sweating syndrome</a></li>
|
||
|
||
|
||
<li>Co-contractive retraction syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-duane-retraction-syndrome/">Isolated Duane retraction syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/coats-plus-syndrome/">Coats plus syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cockayne-syndrome/">Cockayne syndrome</a></li>
|
||
|
||
<li>Cockayne-Pelizaeus-Merzbacher disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-disease/">Pelizaeus-Merzbacher disease</a></li>
|
||
|
||
|
||
<li>COD-MD syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/walker-warburg-syndrome/">Walker-Warburg syndrome</a></li>
|
||
|
||
|
||
<li>Coenzyme Q deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/">Primary coenzyme Q10 deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome/">Coffin-Lowry syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/">Coffin-Siris syndrome</a></li>
|
||
|
||
<li>COG5-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
<li>Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chops-syndrome/">CHOPS syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cohen-syndrome/">Cohen syndrome</a></li>
|
||
|
||
<li>Cohesinopathy affecting heart and gut rhythm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/chronic-atrial-and-intestinal-dysrhythmia/">Chronic atrial and intestinal dysrhythmia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/col4a1-related-brain-small-vessel-disease/">COL4A1-related brain small-vessel disease</a></li>
|
||
|
||
<li>Col6-RDs, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome/">Cold-induced sweating syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cole-disease/">Cole disease</a></li>
|
||
|
||
<li>Colitis gravis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ulcerative-colitis/">Ulcerative colitis</a></li>
|
||
|
||
|
||
<li>Colitis, granulomatous, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
|
||
<li>Collagen type VI-related disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li>Collagen VI-related dystrophies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
<li>Collagen VI-related myopathies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li>Collagen VI-related myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li>Collodion baby, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/">Lamellar ichthyosis</a></li>
|
||
|
||
|
||
<li>Collodion baby syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lamellar-ichthyosis/">Lamellar ichthyosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/coloboma/">Coloboma</a></li>
|
||
|
||
<li>Coloboma of optic nerve with renal disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome/">Renal coloboma syndrome</a></li>
|
||
|
||
|
||
<li>Coloboma-ureteral-renal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome/">Renal coloboma syndrome</a></li>
|
||
|
||
|
||
<li>Color blindness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/color-vision-deficiency/">Color vision deficiency</a></li>
|
||
|
||
|
||
<li>Color vision defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/color-vision-deficiency/">Color vision deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/color-vision-deficiency/">Color vision deficiency</a></li>
|
||
|
||
<li>ColVI myopathies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/">Collagen VI-related dystrophy</a></li>
|
||
|
||
|
||
<li>Combined 17 alpha-hydroxylase/17,20-lyase deficiency, <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>Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency/">Molybdenum cofactor deficiency</a></li>
|
||
|
||
|
||
<li>Combined deficiency of xanthine dehydrogenase and aldehyde oxidase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/">Hereditary xanthinuria</a></li>
|
||
|
||
|
||
<li>Combined immunodeficiency due to DOCK8 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dock8-immunodeficiency-syndrome/">DOCK8 immunodeficiency syndrome</a></li>
|
||
|
||
|
||
<li>Combined immunodeficiency due to PGM3 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spondyloenchondrodysplasia-with-immune-dysregulation/">Spondyloenchondrodysplasia with immune dysregulation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria/">Combined malonic and methylmalonic aciduria</a></li>
|
||
|
||
<li>Combined molybdoflavoprotein enzyme deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency/">Molybdenum cofactor deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/combined-oxidative-phosphorylation-deficiency-1/">Combined oxidative phosphorylation deficiency 1</a></li>
|
||
|
||
<li>Combined oxidative phosphorylation deficiency 12, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate/">Leukoencephalopathy with thalamus and brainstem involvement and high lactate</a></li>
|
||
|
||
|
||
<li>Combined partial deficiency of 17-hydroxylase and 21-hydroxylase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency/">Combined pituitary hormone deficiency</a></li>
|
||
|
||
<li>Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency/">Molybdenum cofactor deficiency</a></li>
|
||
|
||
|
||
<li>Comel-Netherton syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/netherton-syndrome/">Netherton syndrome</a></li>
|
||
|
||
|
||
<li>Common migraine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/migraine/">Migraine</a></li>
|
||
|
||
|
||
<li>COMMON syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome/">BAP1 tumor predisposition syndrome</a></li>
|
||
|
||
|
||
<li>Common variable hypogammaglobulinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/">Common variable immune deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/">Common variable immune deficiency</a></li>
|
||
|
||
<li>Common variable immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/">Common variable immune deficiency</a></li>
|
||
|
||
|
||
<li>Complement 2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/">Complement component 2 deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/complement-component-2-deficiency/">Complement component 2 deficiency</a></li>
|
||
|
||
<li>Complement component 3 inactivator deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/">Complement factor I deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/complement-component-8-deficiency/">Complement component 8 deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/">Complement factor I deficiency</a></li>
|
||
|
||
<li>Complete HPRT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
|
||
|
||
|
||
<li>Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/complete-lcat-deficiency/">Complete LCAT deficiency</a></li>
|
||
|
||
<li>Complete PAI-1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complete-plasminogen-activator-inhibitor-1-deficiency/">Complete plasminogen activator inhibitor 1 deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/complete-plasminogen-activator-inhibitor-1-deficiency/">Complete plasminogen activator inhibitor 1 deficiency</a></li>
|
||
|
||
<li>Complete trisomy 13 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-13/">Trisomy 13</a></li>
|
||
|
||
|
||
<li>Complete trisomy 18 syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-18/">Trisomy 18</a></li>
|
||
|
||
|
||
<li>Complex carbohydrate intolerance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption/">Glucose-galactose malabsorption</a></li>
|
||
|
||
|
||
<li>Complex IV deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency/">Cytochrome c oxidase deficiency</a></li>
|
||
|
||
|
||
<li>Compression neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-neuropathy-with-liability-to-pressure-palsies/">Hereditary neuropathy with liability to pressure palsies</a></li>
|
||
|
||
|
||
<li>Compression neuropathy, carpal tunnel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>Cone-rod degeneration, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/">Cone-rod dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/">Cone-rod dystrophy</a></li>
|
||
|
||
<li>Cone-rod retinal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/">Cone-rod dystrophy</a></li>
|
||
|
||
|
||
<li>Congenital absence of brain, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anencephaly/">Anencephaly</a></li>
|
||
|
||
|
||
<li>Congenital absence of nails, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anonychia-congenita/">Anonychia congenita</a></li>
|
||
|
||
|
||
<li>Congenital absence of skin on scalp, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita/">Nonsyndromic aplasia cutis congenita</a></li>
|
||
|
||
|
||
<li>Congenital absence of the uterus and vagina (CAUV), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/">Mayer-Rokitansky-Küster-Hauser syndrome</a></li>
|
||
|
||
|
||
<li>Congenital 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>Congenital adrenal hyperplasia 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/">21-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li><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>Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, <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>Congenital adrenal hyperplasia due to 21 hydroxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/">21-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital adrenal hyperplasia type 5, <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><a href="https://medlineplus.gov/genetics/condition/congenital-afibrinogenemia/">Congenital afibrinogenemia</a></li>
|
||
|
||
<li>Congenital agammaglobulinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-agammaglobulinemia/">X-linked agammaglobulinemia</a></li>
|
||
|
||
|
||
<li>Congenital agranulocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia/">Severe congenital neutropenia</a></li>
|
||
|
||
|
||
<li>Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency, <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>Congenital 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>Congenital amaurosis of retinal origin, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li>
|
||
|
||
|
||
<li>Congenital analgesia, <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>Congenital aneurysm of ascending aorta, <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>Congenital aniridia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aniridia/">Aniridia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-anomalies-of-kidney-and-urinary-tract/">Congenital anomalies of kidney and urinary tract</a></li>
|
||
|
||
<li>Congenital antithrombin III deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/">Hereditary antithrombin deficiency</a></li>
|
||
|
||
|
||
<li>Congenital aplasia 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>Congenital betalipoprotein deficiency syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/abetalipoproteinemia/">Abetalipoproteinemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-bilateral-absence-of-the-vas-deferens/">Congenital bilateral absence of the vas deferens</a></li>
|
||
|
||
<li>Congenital bilateral 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><a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/">Congenital bile acid synthesis defect type 1</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-2/">Congenital bile acid synthesis defect type 2</a></li>
|
||
|
||
<li>Congenital bullous poikiloderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kindler-epidermolysis-bullosa/">Kindler epidermolysis bullosa</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-cataracts-facial-dysmorphism-and-neuropathy/">Congenital cataracts, facial dysmorphism, and neuropathy</a></li>
|
||
|
||
<li>Congenital central hypoventilation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome/">Congenital central hypoventilation syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome/">Congenital central hypoventilation syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
|
||
|
||
<li>Congenital deafness with inner ear agenesis, microtia, and microdontia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia/">Congenital deafness with labyrinthine aplasia, microtia, and microdontia</a></li>
|
||
|
||
|
||
<li>Congenital deafness with keratopachydermia and constrictions of fingers and toes, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vohwinkel-syndrome/">Vohwinkel syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia/">Congenital deafness with labyrinthine aplasia, microtia, and microdontia</a></li>
|
||
|
||
<li>Congenital defect of folate absorption, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption/">Hereditary folate malabsorption</a></li>
|
||
|
||
|
||
<li>Congenital defect of the skull and scalp, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita/">Nonsyndromic aplasia cutis congenita</a></li>
|
||
|
||
|
||
<li>Congenital deficiency of the leptin receptor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leptin-receptor-deficiency/">Leptin receptor deficiency</a></li>
|
||
|
||
|
||
<li>Congenital diaphragmatic defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia/">Congenital diaphragmatic hernia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-diaphragmatic-hernia/">Congenital diaphragmatic hernia</a></li>
|
||
|
||
<li>Congenital disorder of deglycosylation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ngly1-congenital-disorder-of-deglycosylation/">NGLY1-congenital disorder of deglycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type 1G, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type 1K, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg1-congenital-disorder-of-glycosylation/">ALG1-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type 1q, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/srd5a3-congenital-disorder-of-glycosylation/">SRD5A3-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type Ia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type Ic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg6-congenital-disorder-of-glycosylation/">ALG6-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type Ig, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alg12-congenital-disorder-of-glycosylation/">ALG12-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation type IIi, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cog5-congenital-disorder-of-glycosylation/">COG5-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation, type IIm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Congenital disorder of glycosylation, type Im, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dolk-congenital-disorder-of-glycosylation/">DOLK-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-dyserythropoietic-anemia/">Congenital dyserythropoietic anemia</a></li>
|
||
|
||
<li>Congenital dysplastic angiopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/">Klippel-Trenaunay syndrome</a></li>
|
||
|
||
|
||
<li>Congenital dystrophia brevicollis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/klippel-feil-syndrome/">Klippel-Feil syndrome</a></li>
|
||
|
||
|
||
<li>Congenital ectopia lentis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis/">Isolated ectopia lentis</a></li>
|
||
|
||
|
||
<li>Congenital enamel hypoplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta/">Amelogenesis imperfecta</a></li>
|
||
|
||
|
||
<li>Congenital enteropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/">Microvillus inclusion disease</a></li>
|
||
|
||
|
||
<li>Congenital erythrocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-erythrocytosis/">Familial erythrocytosis</a></li>
|
||
|
||
|
||
<li>Congenital erythroid hypoplastic anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>Congenital external ophthalmoplegia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/">Congenital fibrosis of the extraocular muscles</a></li>
|
||
|
||
|
||
<li>Congenital facial diplegia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/moebius-syndrome/">Moebius syndrome</a></li>
|
||
|
||
|
||
<li>Congenital failure of autonomic control, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-central-hypoventilation-syndrome/">Congenital central hypoventilation syndrome</a></li>
|
||
|
||
|
||
<li>Congenital familial lymphedema, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/milroy-disease/">Milroy disease</a></li>
|
||
|
||
|
||
<li>Congenital familial protracted diarrhea with enterocyte brush-border abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/">Microvillus inclusion disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion/">Congenital fiber-type disproportion</a></li>
|
||
|
||
<li>Congenital fibrose liver, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis/">Congenital hepatic fibrosis</a></li>
|
||
|
||
|
||
<li>Congenital fibrosis of extraocular muscles, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/">Congenital fibrosis of the extraocular muscles</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/">Congenital fibrosis of the extraocular muscles</a></li>
|
||
|
||
<li>Congenital fibrosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fibrosis-of-the-extraocular-muscles/">Congenital fibrosis of the extraocular muscles</a></li>
|
||
|
||
|
||
<li>Congenital folate malabsorption, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-folate-malabsorption/">Hereditary folate malabsorption</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-generalized-lipodystrophy/">Congenital generalized lipodystrophy</a></li>
|
||
|
||
<li>Congenital giant pigmented nevus of skin, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/giant-congenital-melanocytic-nevus/">Giant congenital melanocytic nevus</a></li>
|
||
|
||
|
||
<li>Congenital glucose-galactose intolerance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption/">Glucose-galactose malabsorption</a></li>
|
||
|
||
|
||
<li>Congenital glucose-galactose malabsorption, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glucose-galactose-malabsorption/">Glucose-galactose malabsorption</a></li>
|
||
|
||
|
||
<li>Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/child-syndrome/">CHILD syndrome</a></li>
|
||
|
||
|
||
<li>Congenital hemidysplasia with ichthyosiform nevus and limbs defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/child-syndrome/">CHILD syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis/">Congenital hepatic fibrosis</a></li>
|
||
|
||
<li>Congenital hereditary hematuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alport-syndrome/">Alport syndrome</a></li>
|
||
|
||
|
||
<li>Congenital hereditary stromal dystrophy of the cornea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>Congenital hyperammonemia, type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carbamoyl-phosphate-synthetase-i-deficiency/">Carbamoyl phosphate synthetase I deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism/">Congenital hyperinsulinism</a></li>
|
||
|
||
<li>Congenital hypoaldosteronism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital hypoplasia of spleen, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia/">Isolated congenital asplenia</a></li>
|
||
|
||
|
||
<li>Congenital hypoplastic anemia of Blackfan and Diamond, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/">Congenital hypothyroidism</a></li>
|
||
|
||
<li>Congenital ichthyosiform erythroderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma/">Nonbullous congenital ichthyosiform erythroderma</a></li>
|
||
|
||
|
||
<li>Congenital icthyosis mental retardation spasticity syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome/">Sjögren-Larsson syndrome</a></li>
|
||
|
||
|
||
<li>Congenital indifference to 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>Congenital insensitivity to pain, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-v/">Hereditary sensory and autonomic neuropathy type V</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-insensitivity-to-pain-with-anhidrosis/">Congenital insensitivity to pain with anhidrosis</a></li>
|
||
|
||
<li>Congenital intestinal aganglionosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hirschsprung-disease/">Hirschsprung disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-leptin-deficiency/">Congenital leptin deficiency</a></li>
|
||
|
||
<li>Congenital lipomatosis of pancreas, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/shwachman-diamond-syndrome/">Shwachman-Diamond syndrome</a></li>
|
||
|
||
|
||
<li>Congenital lysinuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lysinuric-protein-intolerance/">Lysinuric protein intolerance</a></li>
|
||
|
||
|
||
<li>Congenital megacolon, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hirschsprung-disease/">Hirschsprung disease</a></li>
|
||
|
||
|
||
<li>Congenital melanocytic nevus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/giant-congenital-melanocytic-nevus/">Giant congenital melanocytic nevus</a></li>
|
||
|
||
|
||
<li>Congenital mesodermal dysmorphodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome/">Weill-Marchesani syndrome</a></li>
|
||
|
||
|
||
<li>Congenital methemoglobinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type/">Methemoglobinemia, beta-globin type</a></li>
|
||
|
||
|
||
<li>Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
|
||
|
||
|
||
<li>Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency/">Asparagine synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital microvillous atrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease/">Microvillus inclusion disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-mirror-movement-disorder/">Congenital mirror movement disorder</a></li>
|
||
|
||
<li>Congenital mirror movements, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-mirror-movement-disorder/">Congenital mirror movement disorder</a></li>
|
||
|
||
|
||
<li>Congenital motor nystagmus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-infantile-nystagmus/">X-linked infantile nystagmus</a></li>
|
||
|
||
|
||
<li>Congenital muscular dystrophy with spine rigidity syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rigid-spine-muscular-dystrophy/">Rigid spine muscular dystrophy</a></li>
|
||
|
||
|
||
<li>Congenital muscular dystrophy, Fukuyama type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fukuyama-congenital-muscular-dystrophy/">Fukuyama congenital muscular dystrophy</a></li>
|
||
|
||
|
||
<li>Congenital myasthenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/">Congenital myasthenic syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/">Congenital myasthenic syndrome</a></li>
|
||
|
||
<li>Congenital myasthenic syndromes, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome/">Congenital myasthenic syndrome</a></li>
|
||
|
||
|
||
<li>Congenital myopathy with caps, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cap-myopathy/">Cap myopathy</a></li>
|
||
|
||
|
||
<li>Congenital myopathy with excess of thin filaments, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/actin-accumulation-myopathy/">Actin-accumulation myopathy</a></li>
|
||
|
||
|
||
<li>Congenital myopathy with fiber type disproportion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-fiber-type-disproportion/">Congenital fiber-type disproportion</a></li>
|
||
|
||
|
||
<li>Congenital myotonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myotonia-congenita/">Myotonia congenita</a></li>
|
||
|
||
|
||
<li>Congenital myxedema, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/">Congenital hypothyroidism</a></li>
|
||
|
||
|
||
<li>Congenital NADH-methemoglobin reductase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-congenital-methemoglobinemia/">Autosomal recessive congenital methemoglobinemia</a></li>
|
||
|
||
|
||
<li>Congenital nephrogenic diabetes insipidus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-resistance/">Arginine vasopressin resistance</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-nephrotic-syndrome/">Congenital nephrotic syndrome</a></li>
|
||
|
||
<li>Congenital neuronal ceroid lipofuscinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln10-disease/">CLN10 disease</a></li>
|
||
|
||
|
||
<li>Congenital neutropenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia/">Severe congenital neutropenia</a></li>
|
||
|
||
|
||
<li>Congenital nonbullous ichthyosiform erythroderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma/">Nonbullous congenital ichthyosiform erythroderma</a></li>
|
||
|
||
|
||
<li>Congenital ocular coloboma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coloboma/">Coloboma</a></li>
|
||
|
||
|
||
<li>Congenital ophthalmoplegia and facial paresis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/moebius-syndrome/">Moebius syndrome</a></li>
|
||
|
||
|
||
<li>Congenital osteopetrosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/osteopetrosis/">Osteopetrosis</a></li>
|
||
|
||
|
||
<li>Congenital oxaluria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
|
||
|
||
|
||
<li>Congenital pachyonychia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pachyonychia-congenita/">Pachyonychia congenita</a></li>
|
||
|
||
|
||
<li>Congenital pain indifference, <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>Congenital plasminogen activator inhibitor type 1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/complete-plasminogen-activator-inhibitor-1-deficiency/">Complete plasminogen activator inhibitor 1 deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-plasminogen-deficiency/">Congenital plasminogen deficiency</a></li>
|
||
|
||
<li>Congenital poikiloderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome/">Rothmund-Thomson syndrome</a></li>
|
||
|
||
|
||
<li>Congenital pontocerebellar hypoplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/">Pontocerebellar hypoplasia</a></li>
|
||
|
||
|
||
<li>Congenital prekallikrein deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prekallikrein-deficiency/">Prekallikrein deficiency</a></li>
|
||
|
||
|
||
<li>Congenital progressive oculo-acoustico-cerebral degeneration, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li>
|
||
|
||
|
||
<li>Congenital pseudohydrocephalic progeroid syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/">Wiedemann-Rautenstrauch syndrome</a></li>
|
||
|
||
|
||
<li>Congenital pure red cell anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>Congenital pure red cell aplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>Congenital reticular ichthyosiform erythroderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti/">Ichthyosis with confetti</a></li>
|
||
|
||
|
||
<li>Congenital retinal blindness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li>
|
||
|
||
|
||
<li>Congenital scalp defects with distal limb reduction anomalies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/">Adams-Oliver syndrome</a></li>
|
||
|
||
|
||
<li>Congenital scoliosis with unilateral unsegmented bar, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spondylocarpotarsal-synostosis-syndrome/">Spondylocarpotarsal synostosis syndrome</a></li>
|
||
|
||
|
||
<li>Congenital sensory neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii/">Hereditary sensory and autonomic neuropathy type II</a></li>
|
||
|
||
|
||
<li>Congenital sensory neuropathy with selective loss of small myelinated fibers, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-sensory-and-autonomic-neuropathy-type-v/">Hereditary sensory and autonomic neuropathy type V</a></li>
|
||
|
||
|
||
<li>Congenital short bowel syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
|
||
|
||
|
||
<li>Congenital sideroblastic anaemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li>
|
||
|
||
|
||
<li>Congenital spherocytic hemolytic anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-spherocytosis/">Hereditary spherocytosis</a></li>
|
||
|
||
|
||
<li>Congenital spherocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-spherocytosis/">Hereditary spherocytosis</a></li>
|
||
|
||
|
||
<li>Congenital stiff-man syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia/">Hereditary hyperekplexia</a></li>
|
||
|
||
|
||
<li>Congenital stiff-person syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia/">Hereditary hyperekplexia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
<li>Congenital stromal dystrophy of the cornea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>Congenital Stuart factor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-x-deficiency/">Factor X deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/">Congenital sucrase-isomaltase deficiency</a></li>
|
||
|
||
<li>Congenital sucrose intolerance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/">Congenital sucrase-isomaltase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital sucrose-isomaltose malabsorption, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/">Congenital sucrase-isomaltase deficiency</a></li>
|
||
|
||
|
||
<li>Congenital synspondylism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spondylocarpotarsal-synostosis-syndrome/">Spondylocarpotarsal synostosis syndrome</a></li>
|
||
|
||
|
||
<li>Congenital telangiectatic erythema, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bloom-syndrome/">Bloom syndrome</a></li>
|
||
|
||
|
||
<li>Congenital ulcer of the newborn, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nonsyndromic-aplasia-cutis-congenita/">Nonsyndromic aplasia cutis congenita</a></li>
|
||
|
||
|
||
<li>Congenital valvular heart disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia/">X-linked cardiac valvular dysplasia</a></li>
|
||
|
||
|
||
<li>Congenital X-linked retinoschisis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis/">X-linked juvenile retinoschisis</a></li>
|
||
|
||
|
||
<li>Congestive cardiomyopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy/">Familial dilated cardiomyopathy</a></li>
|
||
|
||
|
||
<li>Conical cornea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/keratoconus/">Keratoconus</a></li>
|
||
|
||
|
||
<li>Conn adenoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li>
|
||
|
||
|
||
<li>Conorenal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome/">Mainzer-Saldino syndrome</a></li>
|
||
|
||
|
||
<li>Conorenal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome/">Mainzer-Saldino syndrome</a></li>
|
||
|
||
|
||
<li>Conotruncal anomaly face syndrome (CTAF), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/">22q11.2 deletion syndrome</a></li>
|
||
|
||
|
||
<li>Conradi-Hünermann syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2/">X-linked chondrodysplasia punctata 2</a></li>
|
||
|
||
|
||
<li>Conradi-Hünermann-Happle syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-chondrodysplasia-punctata-2/">X-linked chondrodysplasia punctata 2</a></li>
|
||
|
||
|
||
<li>Constitutional liver dysfunction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gilbert-syndrome/">Gilbert syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome/">Constitutional mismatch repair deficiency syndrome</a></li>
|
||
|
||
<li>Contraction of palmar fascia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
|
||
|
||
|
||
<li>Contractural arachnodactyly, congenital, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly/">Congenital contractural arachnodactyly</a></li>
|
||
|
||
|
||
<li>Copper storage disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wilson-disease/">Wilson disease</a></li>
|
||
|
||
|
||
<li>Copper transport disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/menkes-syndrome/">Menkes syndrome</a></li>
|
||
|
||
|
||
<li>CoQ deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/">Primary coenzyme Q10 deficiency</a></li>
|
||
|
||
|
||
<li>CORD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/">Cone-rod dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia/">Core binding factor acute myeloid leukemia</a></li>
|
||
|
||
<li>Core-binding factor AML, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/core-binding-factor-acute-myeloid-leukemia/">Core binding factor acute myeloid leukemia</a></li>
|
||
|
||
|
||
<li>Cori disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/">Glycogen storage disease type III</a></li>
|
||
|
||
|
||
<li>Cori's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii/">Glycogen storage disease type III</a></li>
|
||
|
||
|
||
<li>Corneal dystrophy, congenital stromal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>Corneal dystrophy, juvenile epithelial of Meesmann, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy/">Meesmann corneal dystrophy</a></li>
|
||
|
||
|
||
<li>Corneal dystrophy, Meesmann epithelial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy/">Meesmann corneal dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/">Cornelia de Lange syndrome</a></li>
|
||
|
||
<li>Corpus callosum agenesis-cataract-immunodeficiency syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vici-syndrome/">Vici syndrome</a></li>
|
||
|
||
|
||
<li>Corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic paraplegia, hydrocephalus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/l1-syndrome/">L1 syndrome</a></li>
|
||
|
||
|
||
<li>CORS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">Joubert syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/corticosteroid-binding-globulin-deficiency/">Corticosteroid-binding globulin deficiency</a></li>
|
||
|
||
<li>Corticosterone 18-monooxygenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
|
||
<li>Corticosterone methyl oxidase 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/corticosterone-methyloxidase-deficiency/">Corticosterone methyloxidase deficiency</a></li>
|
||
|
||
<li>Corticotropin-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>Costa de Morte ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinocerebellar-ataxia-type-36/">Spinocerebellar ataxia type 36</a></li>
|
||
|
||
|
||
<li>Costeff optic atrophy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/costeff-syndrome/">Costeff syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/costello-syndrome/">Costello syndrome</a></li>
|
||
|
||
<li>Coumadin sensitivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/warfarin-sensitivity/">Warfarin sensitivity</a></li>
|
||
|
||
|
||
<li>Coumarin resistance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/warfarin-resistance/">Warfarin resistance</a></li>
|
||
|
||
|
||
<li>Cowden disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
<li>Cowden's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
|
||
<li>Cowden's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
|
||
<li>COX deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency/">Cytochrome c oxidase deficiency</a></li>
|
||
|
||
|
||
<li>Coxa plana, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease/">Legg-Calvé-Perthes disease</a></li>
|
||
|
||
|
||
<li>COXPD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/combined-oxidative-phosphorylation-deficiency-1/">Combined oxidative phosphorylation deficiency 1</a></li>
|
||
|
||
|
||
<li>COXPD12, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate/">Leukoencephalopathy with thalamus and brainstem involvement and high lactate</a></li>
|
||
|
||
|
||
<li>CPEO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia/">Progressive external ophthalmoplegia</a></li>
|
||
|
||
|
||
<li>CPHD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency/">Combined pituitary hormone deficiency</a></li>
|
||
|
||
|
||
<li>CPP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/central-precocious-puberty/">Central precocious puberty</a></li>
|
||
|
||
|
||
<li>CPT 1A deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/">Carnitine palmitoyltransferase I deficiency</a></li>
|
||
|
||
|
||
<li>CPT deficiency, hepatic, type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/">Carnitine palmitoyltransferase I deficiency</a></li>
|
||
|
||
|
||
<li>CPT I deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/">Carnitine palmitoyltransferase I deficiency</a></li>
|
||
|
||
|
||
<li>CPT II deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/">Carnitine palmitoyltransferase II deficiency</a></li>
|
||
|
||
|
||
<li>CPT2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-ii-deficiency/">Carnitine palmitoyltransferase II deficiency</a></li>
|
||
|
||
|
||
<li>CPVT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia/">Catecholaminergic polymorphic ventricular tachycardia</a></li>
|
||
|
||
|
||
<li>Craniocarpotarsal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome/">Freeman-Sheldon syndrome</a></li>
|
||
|
||
|
||
<li>Craniocarpotarsal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome/">Freeman-Sheldon syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cranioectodermal-dysplasia/">Cranioectodermal dysplasia</a></li>
|
||
|
||
<li>Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mn1-c-terminal-truncation-syndrome/">MN1 C-terminal truncation syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysarthrosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
|
||
|
||
|
||
<li>Craniofacial dysostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysostosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysostosis type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gorlin-chaudhry-moss-syndrome/">Gorlin-Chaudhry-Moss syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gorlin-chaudhry-moss-syndrome/">Gorlin-Chaudhry-Moss syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/craniofacial-microsomia/">Craniofacial microsomia</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/craniofacial-deafness-hand-syndrome/">Craniofacial-deafness-hand syndrome</a></li>
|
||
|
||
<li>Craniofacial-skeletal-dermatologic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li>
|
||
|
||
|
||
<li>Craniofacial-ulnar-renal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
|
||
|
||
|
||
<li>Craniofrontonasal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/">Craniofrontonasal syndrome</a></li>
|
||
|
||
|
||
<li>Craniofrontonasal dystosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/">Craniofrontonasal syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome/">Craniofrontonasal syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
<li>Craniometaphyseal dysplasia, Jackson type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/">Craniometaphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Cranioorodigital syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2/">Otopalatodigital syndrome type 2</a></li>
|
||
|
||
|
||
<li>Cranioorodigital syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1/">Otopalatodigital syndrome type 1</a></li>
|
||
|
||
|
||
<li>Cranioskeletal dysplasia with acro-osteolysis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome/">Hajdu-Cheney syndrome</a></li>
|
||
|
||
|
||
<li>Craniosynostosis with lid anomalies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
|
||
|
||
|
||
<li>Craniosynostosis with radial defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/baller-gerold-syndrome/">Baller-Gerold syndrome</a></li>
|
||
|
||
|
||
<li>Craniosynostosis-radial aplasia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/baller-gerold-syndrome/">Baller-Gerold syndrome</a></li>
|
||
|
||
|
||
<li>Cranium bifidum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
|
||
|
||
|
||
<li>Cranium bifidum occultum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
|
||
|
||
|
||
<li>CRASH syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/l1-syndrome/">L1 syndrome</a></li>
|
||
|
||
|
||
<li>CRB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/">Leber congenital amaurosis</a></li>
|
||
|
||
|
||
<li>CRD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li>
|
||
|
||
|
||
<li>CRD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy/">Cone-rod dystrophy</a></li>
|
||
|
||
|
||
<li>Creatine deficiency syndrome due to AGAT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/">Arginine:glycine amidinotransferase deficiency</a></li>
|
||
|
||
|
||
<li>Creatine deficiency syndrome due to GAMT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency/">Guanidinoacetate methyltransferase deficiency</a></li>
|
||
|
||
|
||
<li>Creatine transporter defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/">X-linked creatine deficiency</a></li>
|
||
|
||
|
||
<li>Creatine transporter deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-creatine-deficiency/">X-linked creatine deficiency</a></li>
|
||
|
||
|
||
<li>Cree encephalitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
|
||
|
||
|
||
<li>Cree leukoencephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/">Leukoencephalopathy with vanishing white matter</a></li>
|
||
|
||
|
||
<li>Cretinism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism/">Congenital hypothyroidism</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/">Cri-du-chat syndrome</a></li>
|
||
|
||
<li>CRIE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti/">Ichthyosis with confetti</a></li>
|
||
|
||
|
||
<li>Crigler Najjar syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome/">Crigler-Najjar syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome/">Crigler-Najjar syndrome</a></li>
|
||
|
||
<li>Crisponi syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cold-induced-sweating-syndrome/">Cold-induced sweating syndrome</a></li>
|
||
|
||
|
||
<li>Critical congenital heart defects, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease/">Critical congenital heart disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease/">Critical congenital heart disease</a></li>
|
||
|
||
<li>CRM01, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/majeed-syndrome/">Majeed syndrome</a></li>
|
||
|
||
|
||
<li>CRMCC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coats-plus-syndrome/">Coats plus syndrome</a></li>
|
||
|
||
|
||
<li>Crohn disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
<li>Crohn's enteritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
|
||
<li>Crouzon craniofacial dysostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Crouzon disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome-with-acanthosis-nigricans/">Crouzon syndrome with acanthosis nigricans</a></li>
|
||
|
||
<li>Crouzon's disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome/">Crouzon syndrome</a></li>
|
||
|
||
|
||
<li>Crouzonodermoskeletal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crouzon-syndrome-with-acanthosis-nigricans/">Crouzon syndrome with acanthosis nigricans</a></li>
|
||
|
||
|
||
<li>CRS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/">Caudal regression syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cryopyrin-associated-periodic-syndromes/">Cryopyrin-associated periodic syndromes </a></li>
|
||
|
||
<li>Cryopyrinopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cryopyrin-associated-periodic-syndromes/">Cryopyrin-associated periodic syndromes </a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis/">Cryptogenic cirrhosis</a></li>
|
||
|
||
<li>Cryptogenic fibrosing alveolitis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/idiopathic-pulmonary-fibrosis/">Idiopathic pulmonary fibrosis</a></li>
|
||
|
||
|
||
<li>Cryptophthalmos syndactyly syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fraser-syndrome/">Fraser syndrome</a></li>
|
||
|
||
|
||
<li>Cryptophthalmos syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fraser-syndrome/">Fraser syndrome</a></li>
|
||
|
||
|
||
<li>Cryptophthalmos with other malformations, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fraser-syndrome/">Fraser syndrome</a></li>
|
||
|
||
|
||
<li>CS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cockayne-syndrome/">Cockayne syndrome</a></li>
|
||
|
||
|
||
<li>CS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cowden-syndrome/">Cowden syndrome</a></li>
|
||
|
||
|
||
<li>CSCD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-stromal-corneal-dystrophy/">Congenital stromal corneal dystrophy</a></li>
|
||
|
||
|
||
<li>CSID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-sucrase-isomaltase-deficiency/">Congenital sucrase-isomaltase deficiency</a></li>
|
||
|
||
|
||
<li>CSNBAD, <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>CSNU, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cystinuria/">Cystinuria</a></li>
|
||
|
||
|
||
<li>CSS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/">Coffin-Siris syndrome</a></li>
|
||
|
||
|
||
<li>CST syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypohidrotic-ectodermal-dysplasia/">Hypohidrotic ectodermal dysplasia</a></li>
|
||
|
||
|
||
<li>CTS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>CTX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebrotendinous-xanthomatosis/">Cerebrotendinous xanthomatosis</a></li>
|
||
|
||
|
||
<li>CUD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/">Primary carnitine deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cul3-related-neurodevelopmental-disorder/">CUL3-related neurodevelopmental disorder</a></li>
|
||
|
||
<li>Curry-Hall syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/weyers-acrofacial-dysostosis/">Weyers acrofacial dysostosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
|
||
|
||
<li>Cutaneous melanoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/melanoma/">Melanoma</a></li>
|
||
|
||
|
||
<li>Cutaneous ossification, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/">Progressive osseous heteroplasia</a></li>
|
||
|
||
|
||
<li>Cutaneous/ocular melanoma, atypical melanocytic proliferations, and other internal neoplasms, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome/">BAP1 tumor predisposition syndrome</a></li>
|
||
|
||
|
||
<li>Cutis gyrata syndrome of Beare and Stevenson, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome/">Beare-Stevenson cutis gyrata syndrome</a></li>
|
||
|
||
|
||
<li>Cutis gyrata syndrome of Beare-Stevenson, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beare-stevenson-cutis-gyrata-syndrome/">Beare-Stevenson cutis gyrata syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cutis-laxa/">Cutis laxa</a></li>
|
||
|
||
<li>CVD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia/">X-linked cardiac valvular dysplasia</a></li>
|
||
|
||
|
||
<li>CVID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/">Common variable immune deficiency</a></li>
|
||
|
||
|
||
<li>CVS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
|
||
|
||
|
||
<li>Cyclic hematopoesis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-neutropenia/">Cyclic neutropenia</a></li>
|
||
|
||
|
||
<li>Cyclic leucopenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-neutropenia/">Cyclic neutropenia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cyclic-neutropenia/">Cyclic neutropenia</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
|
||
|
||
<li>Cyclical vomiting, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
|
||
|
||
|
||
<li>Cyclical vomiting syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
|
||
|
||
|
||
<li>Cyclin-dependent kinase-like 5 deficiency disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome/">CYLD cutaneous syndrome</a></li>
|
||
|
||
<li>CYP21 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/">21-hydroxylase deficiency</a></li>
|
||
|
||
|
||
<li>CYP2C19-related poor drug metabolism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clopidogrel-resistance/">Clopidogrel resistance</a></li>
|
||
|
||
|
||
<li>Cystathionine beta synthase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/homocystinuria/">Homocystinuria</a></li>
|
||
|
||
|
||
<li>Cystic disease of ovaries, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
|
||
|
||
|
||
<li>Cystic disease of ovary, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cystic-fibrosis/">Cystic fibrosis</a></li>
|
||
|
||
<li>Cystic fibrosis of pancreas, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cystic-fibrosis/">Cystic fibrosis</a></li>
|
||
|
||
|
||
<li>Cystic leukoencephalopathy without megalencephaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/">RNAse T2-deficient leukoencephalopathy</a></li>
|
||
|
||
|
||
<li>Cystine storage disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cystinosis/">Cystinosis</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cystinosis/">Cystinosis</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cystinuria/">Cystinuria</a></li>
|
||
|
||
<li>Cytochrome b5 reductase deficiency, <i>see</i> <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/cytochrome-c-oxidase-deficiency/">Cytochrome c oxidase deficiency</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
|
||
|
||
<li>Cytochrome-c oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-c-oxidase-deficiency/">Cytochrome c oxidase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/cytogenetically-normal-acute-myeloid-leukemia/">Cytogenetically normal acute myeloid leukemia</a></li>
|
||
|
||
<li>Czech dysplasia, metatarsal type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening/">Spondyloepiphyseal dysplasia with metatarsal shortening</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</section>
|
||
|
||
<section>
|
||
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</section>
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