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<span>Genetic Conditions: P</span>
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<h1>Genetic Conditions: P</h1>
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<p>Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.</p>
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<span class='blue-label'>Other genetic conditions A-Z</span>
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<ul class="alpha-links">
<li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/" data-alpha="A">A</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-e/" data-alpha="E">E</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
<li><span class="active">P</span></li>
<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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<section>
<ul class="withident breaklist">
<li>P110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li>
<li>P11pDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/">Potocki-Shaffer syndrome</a></li>
<li>P450C11B1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/">Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</a></li>
<li>PA-JEB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/">Epidermolysis bullosa with pyloric atresia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pachyonychia-congenita/">Pachyonychia congenita</a></li>
<li>Pachyonychia congenita syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pachyonychia-congenita/">Pachyonychia congenita</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pacs1-syndrome/">PACS1 syndrome</a></li>
<li>PACS1-related syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pacs1-syndrome/">PACS1 syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/paget-disease-of-bone/">Paget disease of bone</a></li>
<li>Paget disease, bone, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paget-disease-of-bone/">Paget disease of bone</a></li>
<li>Paget&#x27;s disease of bone, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paget-disease-of-bone/">Paget disease of bone</a></li>
<li>Pagetoid amyotrophic lateral sclerosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia/">Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia</a></li>
<li>Pagetoid neuroskeletal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia/">Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia</a></li>
<li>PAH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li>PAH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phenylketonuria/">Phenylketonuria</a></li>
<li>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>PAI-1D, <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>PAI1 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>Pain insensitivity, congenital, <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/pallister-hall-syndrome/">Pallister-Hall syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pallister-killian-mosaic-syndrome/">Pallister-Killian mosaic syndrome</a></li>
<li>Pallister-Killian syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pallister-killian-mosaic-syndrome/">Pallister-Killian mosaic syndrome</a></li>
<li>Palmar fascial fibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
<li>Palmar fibromas, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dupuytren-contracture/">Dupuytren contracture</a></li>
<li>Palmoplantar hyperkeratosis-deafness syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>Palmoplantar hyperkeratosis-hearing loss syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>Palmoplantar keratoderma mutilans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vohwinkel-syndrome/">Vohwinkel syndrome</a></li>
<li>Palmoplantar keratoderma mutilans Vohwinkel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vohwinkel-syndrome/">Vohwinkel syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>Palmoplantar keratoderma-deafness syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>Palmoplantar keratoderma-hearing loss syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>PAM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis/">Pulmonary alveolar microlithiasis</a></li>
<li>PAM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia/">Potassium-aggravated myotonia</a></li>
<li>Panhypopituitarism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/combined-pituitary-hormone-deficiency/">Combined pituitary hormone deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration/">Pantothenate kinase-associated neurodegeneration</a></li>
<li>Papillorenal syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome/">Renal coloboma syndrome</a></li>
<li>Papulopustular rosacea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rosacea/">Rosacea</a></li>
<li>Paragangliomas 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma/">Hereditary paraganglioma-pheochromocytoma</a></li>
<li>Paragangliomas 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma/">Hereditary paraganglioma-pheochromocytoma</a></li>
<li>Paragangliomas 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma/">Hereditary paraganglioma-pheochromocytoma</a></li>
<li>Paragangliomas 4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-paraganglioma-pheochromocytoma/">Hereditary paraganglioma-pheochromocytoma</a></li>
<li>Parahemophilia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-v-deficiency/">Factor V deficiency</a></li>
<li>Paralysis periodica paramyotonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paramyotonia-congenita/">Paramyotonia congenita</a></li>
<li>Paralytic ileus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/paramyotonia-congenita/">Paramyotonia congenita</a></li>
<li>Paramyotonia congenita of von Eulenburg, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paramyotonia-congenita/">Paramyotonia congenita</a></li>
<li>Parathyroid adenocarcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li>Parathyroid carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li>Parathyroid gland cancer, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li>Parathyroid gland carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li>Parathyroid neoplasms, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parathyroid-cancer/">Parathyroid cancer</a></li>
<li>Parietal foramina, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/parkes-weber-syndrome/">Parkes Weber syndrome</a></li>
<li>Parkes-Weber syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parkes-weber-syndrome/">Parkes Weber syndrome</a></li>
<li>Parkinson disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parkinsons-disease/">Parkinson&#x27;s disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/parkinsons-disease/">Parkinson&#x27;s disease</a></li>
<li>Parkinsonism with alveolar hypoventilation and mental depression, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/perry-syndrome/">Perry syndrome</a></li>
<li>Parkinsonism-dystonia, infantile, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome/">Dopamine transporter deficiency syndrome</a></li>
<li>Paroxysmal dystonic choreoathetosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia/">Familial paroxysmal nonkinesigenic dyskinesia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder/">Paroxysmal extreme pain disorder</a></li>
<li>Paroxysmal kinesigenic choreoathetosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia/">Familial paroxysmal kinesigenic dyskinesia</a></li>
<li>Paroxysmal kinesigenic dyskinesia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia/">Familial paroxysmal kinesigenic dyskinesia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal nocturnal hemoglobinuria</a></li>
<li>Paroxysmal nonkinesigenic dyskinesia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia/">Familial paroxysmal nonkinesigenic dyskinesia</a></li>
<li>Parry disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cln4-disease/">CLN4 disease</a></li>
<li>Partial albinism with immunodeficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/griscelli-syndrome/">Griscelli syndrome</a></li>
<li>Partial aniridia-cerebellar ataxia-oligophrenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gillespie-syndrome/">Gillespie syndrome</a></li>
<li>Partial epilepsy with variable foci, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci/">Familial focal epilepsy with variable foci</a></li>
<li>Partial facial palsy with urinary abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ochoa-syndrome/">Ochoa syndrome</a></li>
<li>Partial LCAT deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fish-eye-disease/">Fish-eye disease</a></li>
<li>Partial monosomy 17p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/">Smith-Magenis syndrome</a></li>
<li>Partial monosomy 3p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3p-deletion-syndrome/">3p deletion syndrome</a></li>
<li>Partial monosomy 4p, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/">Wolf-Hirschhorn syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/partington-syndrome/">Partington syndrome</a></li>
<li>Partington X-linked mental retardation syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/partington-syndrome/">Partington syndrome</a></li>
<li>Partington-Mulley syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/partington-syndrome/">Partington syndrome</a></li>
<li>Pascual-Castroviejo syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/">Cerebro-facio-thoracic dysplasia</a></li>
<li>PASLI, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/activated-pi3k-delta-syndrome/">Activated PI3K-delta syndrome</a></li>
<li>Patau syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-13/">Trisomy 13</a></li>
<li>Patau&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-13/">Trisomy 13</a></li>
<li>Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/char-syndrome/">Char syndrome</a></li>
<li>Pattern baldness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/androgenetic-alopecia/">Androgenetic alopecia</a></li>
<li>Paucity of interlobular bile ducts, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alagille-syndrome/">Alagille syndrome</a></li>
<li>PBD, ZSS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/">Zellweger spectrum disorder</a></li>
<li>PBD-ZSD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/">Zellweger spectrum disorder</a></li>
<li>PBFE deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
<li>PBT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/piebaldism/">Piebaldism</a></li>
<li>PC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/">Pyruvate carboxylase deficiency</a></li>
<li>PCC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/propionic-acidemia/">Propionic acidemia</a></li>
<li>PCCD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-familial-heart-block/">Progressive familial heart block</a></li>
<li>PCD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia/">Primary ciliary dyskinesia</a></li>
<li>PCH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/">Pontocerebellar hypoplasia</a></li>
<li>PCO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
<li>PCOD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
<li>PCOS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
<li>PD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parkinsons-disease/">Parkinson&#x27;s disease</a></li>
<li>PD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prolidase-deficiency/">Prolidase deficiency</a></li>
<li>PDB, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paget-disease-of-bone/">Paget disease of bone</a></li>
<li>PDC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia/">Familial paroxysmal nonkinesigenic dyskinesia</a></li>
<li>PDD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
<li>PDE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia/">PDGFRA-associated chronic eosinophilic leukemia</a></li>
<li>PDGFRA-associated myeloproliferative neoplasm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia/">PDGFRA-associated chronic eosinophilic leukemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pdgfrb-associated-chronic-eosinophilic-leukemia/">PDGFRB-associated chronic eosinophilic leukemia</a></li>
<li>PDH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li>
<li>PDHC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li>
<li>Pearson marrow-pancreas syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pearson-syndrome/">Pearson syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pearson-syndrome/">Pearson syndrome</a></li>
<li>Pediatric granulomatous arthritis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blau-syndrome/">Blau syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li>
<li>Peeling skin syndrome, acral type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/">Peeling skin syndrome 2</a></li>
<li>Pelizaeus Merzbacher like disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/">Pelizaeus-Merzbacher-like disease type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-disease/">Pelizaeus-Merzbacher disease</a></li>
<li>Pelizaeus-Merzbacher-like disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/">Pelizaeus-Merzbacher-like disease type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/">Pelizaeus-Merzbacher-like disease type 1</a></li>
<li>Pelletier-Leisti syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/floating-harbor-syndrome/">Floating-Harbor syndrome</a></li>
<li>Pelvic horn syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nail-patella-syndrome/">Nail-patella syndrome</a></li>
<li>Pemphigus, benign familial, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hailey-hailey-disease/">Hailey-Hailey disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pendred-syndrome/">Pendred syndrome</a></li>
<li>Pendred&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pendred-syndrome/">Pendred syndrome</a></li>
<li>Pentosuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/essential-pentosuria/">Essential pentosuria</a></li>
<li>PEO, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-external-ophthalmoplegia/">Progressive external ophthalmoplegia</a></li>
<li>PEPD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder/">Paroxysmal extreme pain disorder</a></li>
<li>Pepper syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cohen-syndrome/">Cohen syndrome</a></li>
<li>Peptidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prolidase-deficiency/">Prolidase deficiency</a></li>
<li>Perihilar cholangiocarcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
<li>Periodic fever, Dutch type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency/">Mevalonate kinase deficiency</a></li>
<li>Periodic neutropenia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-neutropenia/">Cyclic neutropenia</a></li>
<li>Periodic vomiting, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome/">Cyclic vomiting syndrome</a></li>
<li>Periorificial lentiginosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>Periostitis; monomelic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/melorheostosis/">Melorheostosis</a></li>
<li>Peripheral neurofibromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/">Neurofibromatosis type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/periventricular-heterotopia/">Periventricular heterotopia</a></li>
<li>Periventricular nodular heterotopia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/periventricular-heterotopia/">Periventricular heterotopia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus/">Permanent neonatal diabetes mellitus</a></li>
<li>Peroneal muscular atrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
<li>Peroxidase and phospholipid deficiency in eosinophils, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency/">Eosinophil peroxidase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li>
<li>Peroxisomal alanine:glyoxylate aminotransferase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
<li>Peroxisomal bifunctional enzyme deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
<li>Peroxisome biogenesis disorders, Zellweger syndrome spectrum, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/">Zellweger spectrum disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/perrault-syndrome/">Perrault syndrome</a></li>
<li>PERRS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bradyopsia/">Bradyopsia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/perry-syndrome/">Perry syndrome</a></li>
<li>Persistent hyperinsulinemia hypoglycemia of infancy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism/">Congenital hyperinsulinism</a></li>
<li>Persistent hyperinsulinemic hypoglycemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism/">Congenital hyperinsulinism</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome/">Persistent Müllerian duct syndrome</a></li>
<li>Persistent oviduct syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome/">Persistent Müllerian duct syndrome</a></li>
<li>Perthes disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/legg-calve-perthes-disease/">Legg-Calvé-Perthes disease</a></li>
<li>Pervasive developmental disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">Autism spectrum disorder</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/peters-anomaly/">Peters anomaly</a></li>
<li>Peters anomaly-short limb dwarfism syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peters-plus-syndrome/">Peters plus syndrome</a></li>
<li>Peters congenital glaucoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peters-anomaly/">Peters anomaly</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/peters-plus-syndrome/">Peters plus syndrome</a></li>
<li>Peters&#x27; plus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peters-plus-syndrome/">Peters plus syndrome</a></li>
<li>Peters&#x27;-plus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peters-plus-syndrome/">Peters plus syndrome</a></li>
<li>Petit mal epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li>
<li>Petit mal, impulsive, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy/">Juvenile myoclonic epilepsy</a></li>
<li>Peutz-Jeghers polyposis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>PEXPD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paroxysmal-extreme-pain-disorder/">Paroxysmal extreme pain disorder</a></li>
<li>PFD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/">Pfeiffer syndrome</a></li>
<li>PFKM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/">Glycogen storage disease type VII</a></li>
<li>PFM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
<li>PGA I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>PGAM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency/">Phosphoglycerate mutase deficiency</a></li>
<li>PGAMM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency/">Phosphoglycerate mutase deficiency</a></li>
<li>PGK deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/">Phosphoglycerate kinase deficiency</a></li>
<li>PGK1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/">Phosphoglycerate kinase deficiency</a></li>
<li>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>PGM3-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li>PGM3-related congenital disorder of glycosylation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li>PHA1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-1/">Pseudohypoaldosteronism type 1</a></li>
<li>PHAII, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2/">Pseudohypoaldosteronism type 2</a></li>
<li>Phakomatosis, Sturge-Weber, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/">Sturge-Weber syndrome</a></li>
<li>Phelan-McDermid syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome/">22q13.3 deletion syndrome</a></li>
<li>Phenotypic diarrhea of infancy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichohepatoenteric-syndrome/">Trichohepatoenteric syndrome</a></li>
<li>Phenylalanine hydroxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phenylketonuria/">Phenylketonuria</a></li>
<li>Phenylalanine hydroxylase deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phenylketonuria/">Phenylketonuria</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/phenylketonuria/">Phenylketonuria</a></li>
<li>PHGDH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency/">Phosphoglycerate dehydrogenase deficiency</a></li>
<li>PHHI hypoglycemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-hyperinsulinism/">Congenital hyperinsulinism</a></li>
<li>PhK deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix/">Glycogen storage disease type IX</a></li>
<li>Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lowe-syndrome/">Lowe syndrome</a></li>
<li>Phosphoethanolaminuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypophosphatasia/">Hypophosphatasia</a></li>
<li>Phosphofructokinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/">Glycogen storage disease type VII</a></li>
<li>Phosphoglucomutase 3 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li>Phosphoglucomutase deficiency type 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pgm3-congenital-disorder-of-glycosylation/">PGM3-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-dehydrogenase-deficiency/">Phosphoglycerate dehydrogenase deficiency</a></li>
<li>Phosphoglycerate kinase 1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/">Phosphoglycerate kinase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-kinase-deficiency/">Phosphoglycerate kinase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency/">Phosphoglycerate mutase deficiency</a></li>
<li>Phosphomannomutase 2 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>Phosphorylase b kinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix/">Glycogen storage disease type IX</a></li>
<li>Phosphorylase kinase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-ix/">Glycogen storage disease type IX</a></li>
<li>PHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome/">Pitt-Hopkins syndrome</a></li>
<li>PHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pallister-hall-syndrome/">Pallister-Hall syndrome</a></li>
<li>Phymatous rosacea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rosacea/">Rosacea</a></li>
<li>Phytanic acid storage disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/refsum-disease/">Refsum disease</a></li>
<li>Phytosterolaemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sitosterolemia/">Sitosterolemia</a></li>
<li>Phytosterolemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sitosterolemia/">Sitosterolemia</a></li>
<li>PIBIDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trichothiodystrophy/">Trichothiodystrophy</a></li>
<li>Piebald trait, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/piebaldism/">Piebaldism</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/piebaldism/">Piebaldism</a></li>
<li>Piepkorn dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/boomerang-dysplasia/">Boomerang dysplasia</a></li>
<li>Pierre Robin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence/">Isolated Pierre Robin sequence</a></li>
<li>Pierre Robin syndrome with fetal chondrodysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome/">Weissenbacher-Zweymüller syndrome</a></li>
<li>Pierre-Robin syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence/">Isolated Pierre Robin sequence</a></li>
<li>Pigmentary cirrhosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-hemochromatosis/">Hereditary hemochromatosis</a></li>
<li>Pigmentary retinal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fundus-albipunctatus/">Fundus albipunctatus</a></li>
<li>Pigmentary retinopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/retinitis-pigmentosa/">Retinitis pigmentosa</a></li>
<li>Pignata Guarino syndrome, <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>Pili torti and nerve deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bjornstad-syndrome/">Björnstad syndrome</a></li>
<li>Pili torti-deafness syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bjornstad-syndrome/">Björnstad syndrome</a></li>
<li>Pili torti-sensorineural hearing loss, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bjornstad-syndrome/">Björnstad syndrome</a></li>
<li>Pili trianguli et canaliculi, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome/">Uncombable hair syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pilomatricoma/">Pilomatricoma</a></li>
<li>Pilomatrixoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pilomatricoma/">Pilomatricoma</a></li>
<li>Pineal hyperplasia and diabetes mellitus syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome/">Rabson-Mendenhall syndrome</a></li>
<li>Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rabson-mendenhall-syndrome/">Rabson-Mendenhall syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome/">Pitt-Hopkins syndrome</a></li>
<li>Pituitary ACTH hypersecretion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
<li>Pituitary Cushing syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
<li>Pituitary diabetes insipidus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/arginine-vasopressin-deficiency/">Arginine vasopressin deficiency</a></li>
<li>Pituitary dwarfism II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/laron-syndrome/">Laron syndrome</a></li>
<li>Pituitary-dependant Cushing syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
<li>Pituitary-dependant hypercortisolism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
<li>Pituitary-dependant hypercortisolism disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cushing-disease/">Cushing disease</a></li>
<li>PJS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>PK deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/">Pyruvate kinase deficiency</a></li>
<li>PKAN, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pantothenate-kinase-associated-neurodegeneration/">Pantothenate kinase-associated neurodegeneration</a></li>
<li>PKD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/">Polycystic kidney disease</a></li>
<li>PKD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/">Pyruvate kinase deficiency</a></li>
<li>PKDYS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dopamine-transporter-deficiency-syndrome/">Dopamine transporter deficiency syndrome</a></li>
<li>PKK deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prekallikrein-deficiency/">Prekallikrein deficiency</a></li>
<li>PKS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pallister-killian-mosaic-syndrome/">Pallister-Killian mosaic syndrome</a></li>
<li>PKU, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phenylketonuria/">Phenylketonuria</a></li>
<li>PKWS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parkes-weber-syndrome/">Parkes Weber syndrome</a></li>
<li>Placental aromatase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatase-deficiency/">Aromatase deficiency</a></li>
<li>PLAID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/">PLCG2-associated antibody deficiency and immune dysregulation</a></li>
<li>Plant sterol storage disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sitosterolemia/">Sitosterolemia</a></li>
<li>Plasma cell dyscrasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-myeloma/">Multiple myeloma</a></li>
<li>Plasma cell myelomas, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-myeloma/">Multiple myeloma</a></li>
<li>Plasma thromboplastin antecedent deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-xi-deficiency/">Factor XI deficiency</a></li>
<li>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>Plasminogen deficiency, type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/congenital-plasminogen-deficiency/">Congenital plasminogen deficiency</a></li>
<li>Plasminogen inhibitor-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>Platelet alpha granule deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gray-platelet-syndrome/">Gray platelet syndrome</a></li>
<li>Platelet alpha-granule deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gray-platelet-syndrome/">Gray platelet syndrome</a></li>
<li>Platelet fibrinogen receptor deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia/">Glanzmann thrombasthenia</a></li>
<li>Platelet glycoprotein Ib deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome/">Bernard-Soulier syndrome</a></li>
<li>Platelet granule defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gray-platelet-syndrome/">Gray platelet syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type/">Platyspondylic dysplasia, Torrance type</a></li>
<li>Platyspondylic dysplasia, Torrance-Luton type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type/">Platyspondylic dysplasia, Torrance type</a></li>
<li>Platyspondylic dysplasia, type Torrance, COL2A1-related, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type/">Platyspondylic dysplasia, Torrance type</a></li>
<li>Platyspondylic lethal skeletal dysplasia, Torrance type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type/">Platyspondylic dysplasia, Torrance type</a></li>
<li>PLCA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis/">Primary localized cutaneous amyloidosis</a></li>
<li>PLCG2 associated antibody deficiency and immune dysregulation, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/">PLCG2-associated antibody deficiency and immune dysregulation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/plcg2-associated-antibody-deficiency-and-immune-dysregulation/">PLCG2-associated antibody deficiency and immune dysregulation</a></li>
<li>Pleuropulmonary blastoma familial tumor and dysplasia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dicer1-syndrome/">DICER1 syndrome</a></li>
<li>Pleuropulmonary blastoma family tumor susceptibility syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dicer1-syndrome/">DICER1 syndrome</a></li>
<li>PLO-SL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy</a></li>
<li>PLOSL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy</a></li>
<li>PLS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
<li>PLSD-T, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/platyspondylic-dysplasia-torrance-type/">Platyspondylic dysplasia, Torrance type</a></li>
<li>PLSJ, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis/">Juvenile primary lateral sclerosis</a></li>
<li>PMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/">Charcot-Marie-Tooth disease</a></li>
<li>PMAH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>PMC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paramyotonia-congenita/">Paramyotonia congenita</a></li>
<li>PMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-disease/">Pelizaeus-Merzbacher disease</a></li>
<li>PMDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/persistent-mullerian-duct-syndrome/">Persistent Müllerian duct syndrome</a></li>
<li>PME, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
<li>PME with ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
<li>PMG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polymicrogyria/">Polymicrogyria</a></li>
<li>PMLD - Pelizaeus Merzbacher like disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/">Pelizaeus-Merzbacher-like disease type 1</a></li>
<li>PMLD1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1/">Pelizaeus-Merzbacher-like disease type 1</a></li>
<li>PMM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
<li>PMM2-CDG, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation/">PMM2-congenital disorder of glycosylation</a></li>
<li>PMP22-RAI1 contiguous gene duplication syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/yuan-harel-lupski-syndrome/">Yuan-Harel-Lupski syndrome</a></li>
<li>PNDM, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus/">Permanent neonatal diabetes mellitus</a></li>
<li>Pneumothorax, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax/">Primary spontaneous pneumothorax</a></li>
<li>PNH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paroxysmal-nocturnal-hemoglobinuria/">Paroxysmal nocturnal hemoglobinuria</a></li>
<li>PNKD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-nonkinesigenic-dyskinesia/">Familial paroxysmal nonkinesigenic dyskinesia</a></li>
<li>PNP deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/purine-nucleoside-phosphorylase-deficiency/">Purine nucleoside phosphorylase deficiency</a></li>
<li>PNPO deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>PNPO-related neonatal epileptic encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>PNPOD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>POFD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>POH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/">Progressive osseous heteroplasia</a></li>
<li>Poikiloderma atrophicans and cataract, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome/">Rothmund-Thomson syndrome</a></li>
<li>Poikiloderma congenitale, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome/">Rothmund-Thomson syndrome</a></li>
<li>Poikiloderma congenitale of Rothmund-Thomson, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome/">Rothmund-Thomson syndrome</a></li>
<li>Poikiloderma of Kindler, <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/poikiloderma-with-neutropenia/">Poikiloderma with neutropenia</a></li>
<li>Poikiloderma with neutropenia, Clericuzio type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poikiloderma-with-neutropenia/">Poikiloderma with neutropenia</a></li>
<li>POIKTMP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis/">Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis</a></li>
<li>Pokkuri death syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/brugada-syndrome/">Brugada syndrome</a></li>
<li>Pol III disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
<li>Pol III-related hypomyelinating leukodystrophies, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pol-iii-related-leukodystrophy/">Pol III-related leukodystrophy</a></li>
<li>Poland anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li>Poland sequence, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li>Poland syndactyly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li>Poland&#x27;s anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li>Poland&#x27;s syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/poland-syndrome/">Poland syndrome</a></li>
<li>POLIP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease/">Mitochondrial neurogastrointestinal encephalopathy disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/">Polycystic kidney disease</a></li>
<li>Polycystic kidneys, medullary type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/medullary-cystic-kidney-disease-type-1/">Medullary cystic kidney disease type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy</a></li>
<li>Polycystic ovarian disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
<li>Polycystic ovarian syndrome, <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/polycystic-ovary-syndrome/">Polycystic ovary syndrome</a></li>
<li>Polycystic renal disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-kidney-disease/">Polycystic kidney disease</a></li>
<li>Polycythemia ruba vera, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycythemia-vera/">Polycythemia vera</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/polycythemia-vera/">Polycythemia vera</a></li>
<li>Polydystrophic dwarfism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/">Mucopolysaccharidosis type VI</a></li>
<li>Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome</a></li>
<li>Polyglandular autoimmune syndrome, type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Polyglandular type I autoimmune syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy/">Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy</a></li>
<li>Polyglucosan body disease, adult form, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/">Adult polyglucosan body disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/polymicrogyria/">Polymicrogyria</a></li>
<li>Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease/">Mitochondrial neurogastrointestinal encephalopathy disease</a></li>
<li>Polyostotic fibrous dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mccune-albright-syndrome/">McCune-Albright syndrome</a></li>
<li>Polyostotic sclerosing histiocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erdheim-chester-disease/">Erdheim-Chester disease</a></li>
<li>Polyposis, hamartomatous intestinal, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>Polyposis, intestinal, II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>Polyps-and-spots syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome/">Peutz-Jeghers syndrome</a></li>
<li>POMC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/">Proopiomelanocortin deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>Pompe&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pompe-disease/">Pompe disease</a></li>
<li>Pontobulbar palsy with deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/riboflavin-transporter-deficiency-neuronopathy/">Riboflavin transporter deficiency neuronopathy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/">Pontocerebellar hypoplasia</a></li>
<li>Poor metabolism of clopidogrel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clopidogrel-resistance/">Clopidogrel resistance</a></li>
<li>Poor metabolism of coumarin, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/warfarin-resistance/">Warfarin resistance</a></li>
<li>Poor metabolism of thiopurines, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/thiopurine-s-methyltransferase-deficiency/">Thiopurine S-methyltransferase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome/">Popliteal pterygium syndrome</a></li>
<li>POR deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
<li>PORD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/">Cytochrome P450 oxidoreductase deficiency</a></li>
<li>Porencephaly type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-porencephaly/">Familial porencephaly</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/porphyria/">Porphyria</a></li>
<li>Porphyrin disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/porphyria/">Porphyria</a></li>
<li>Porteous syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renpenning-syndrome/">Renpenning syndrome</a></li>
<li>Portuguese polyneuritic amyloidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/">Transthyretin amyloidosis</a></li>
<li>Portuguese type familial amyloid neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis/">Transthyretin amyloidosis</a></li>
<li>Postaxial acrofacial dysostosis (POADS), <i>see</i> <a href="https://medlineplus.gov/genetics/condition/miller-syndrome/">Miller syndrome</a></li>
<li>Postinfectious acute necrotizing hemorrhagic encephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/acute-necrotizing-encephalopathy-type-1/">Acute necrotizing encephalopathy type 1</a></li>
<li>Postural hypotension, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/orthostatic-hypotension/">Orthostatic hypotension</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/potassium-aggravated-myotonia/">Potassium-aggravated myotonia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/">Potocki-Shaffer syndrome</a></li>
<li>PPCA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/galactosialidosis/">Galactosialidosis</a></li>
<li>PPH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li>PPHT, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li>PPK mutilans Vohwinkel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/vohwinkel-syndrome/">Vohwinkel syndrome</a></li>
<li>PPK with deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li>PPK-deafness syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/palmoplantar-keratoderma-with-deafness/">Palmoplantar keratoderma with deafness</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ppm-x-syndrome/">PPM-X syndrome</a></li>
<li>PPMX, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ppm-x-syndrome/">PPM-X syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/ppp2r5d-related-intellectual-disability/">PPP2R5D-related intellectual disability</a></li>
<li>PPS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/popliteal-pterygium-syndrome/">Popliteal pterygium syndrome</a></li>
<li>PPSH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency/">5-alpha reductase deficiency</a></li>
<li>Prader-Labhart-Willi syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prader-willi-syndrome/">Prader-Willi syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prader-willi-syndrome/">Prader-Willi syndrome</a></li>
<li>Pre-eclampsia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/preeclampsia/">Preeclampsia</a></li>
<li>Preaxial acrofacial dysostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li>
<li>Preaxial mandibulofacial dysostosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/nager-syndrome/">Nager syndrome</a></li>
<li>Precocious pseudopuberty, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty/">Familial male-limited precocious puberty</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/preeclampsia/">Preeclampsia</a></li>
<li>Pregnancy-induced hypertension, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/preeclampsia/">Preeclampsia</a></li>
<li>Pregnancy-related cholestasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intrahepatic-cholestasis-of-pregnancy/">Intrahepatic cholestasis of pregnancy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prekallikrein-deficiency/">Prekallikrein deficiency</a></li>
<li>Premature ovarian failure 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency/">Fragile X-associated primary ovarian insufficiency</a></li>
<li>Presbyacusia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li>
<li>Presbycusis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/age-related-hearing-loss/">Age-related hearing loss</a></li>
<li>Presenile and senile dementia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li>Presenile dementia with bone cysts, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/">Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy</a></li>
<li>Presentey anomaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency/">Eosinophil peroxidase deficiency</a></li>
<li>PRICKLE1-related progressive myoclonic epilepsy with ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
<li>Primary 3-methylglutaconic aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3-methylglutaconyl-coa-hydratase-deficiency/">3-methylglutaconyl-CoA hydratase deficiency</a></li>
<li>Primary Addison disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autoimmune-addison-disease/">Autoimmune Addison disease</a></li>
<li>Primary aldosteronism due to Conn adenoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aldosterone-producing-adenoma/">Aldosterone-producing adenoma</a></li>
<li>Primary autosomal recessive microcephaly, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-recessive-primary-microcephaly/">Autosomal recessive primary microcephaly</a></li>
<li>Primary bilateral macronodular adrenal hyperplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li>Primary blepharospasm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/benign-essential-blepharospasm/">Benign essential blepharospasm</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency/">Primary carnitine deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-ciliary-dyskinesia/">Primary ciliary dyskinesia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/">Primary coenzyme Q10 deficiency</a></li>
<li>Primary CoQ10 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/">Primary coenzyme Q10 deficiency</a></li>
<li>Primary cutaneous amyloidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis/">Primary localized cutaneous amyloidosis</a></li>
<li>Primary dystonia, DYT6 type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystonia-6/">Dystonia 6</a></li>
<li>Primary endolymphatic hydrops, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meniere-disease/">Ménière disease</a></li>
<li>Primary erythromelalgia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythromelalgia/">Erythromelalgia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-familial-brain-calcification/">Primary familial brain calcification</a></li>
<li>Primary familial dilated cardiomyopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy/">Familial dilated cardiomyopathy</a></li>
<li>Primary familial polycythemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-erythrocytosis/">Familial erythrocytosis</a></li>
<li>Primary familial xanthomatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li>
<li>Primary familial xanthomatosis with adrenal calcification, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/">Lysosomal acid lipase deficiency</a></li>
<li>Primary GH resistance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/laron-syndrome/">Laron syndrome</a></li>
<li>Primary growth hormone resistance, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/laron-syndrome/">Laron syndrome</a></li>
<li>Primary hemochromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-hemochromatosis/">Hereditary hemochromatosis</a></li>
<li>Primary hemophagocytic hymphohistiocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-hemophagocytic-lymphohistiocytosis/">Familial hemophagocytic lymphohistiocytosis</a></li>
<li>Primary hyperkalemic periodic paralysis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis/">Hyperkalemic periodic paralysis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
<li>Primary hyperphosphatemic tumoral calcinosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis/">Hyperphosphatemic familial tumoral calcinosis</a></li>
<li>Primary hypertension, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypertension/">Hypertension</a></li>
<li>Primary hyperuricemia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome/">Lesch-Nyhan syndrome</a></li>
<li>Primary hypoalphalipoproteinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/">Familial HDL deficiency</a></li>
<li>Primary hypokalemic periodic paralysis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypokalemic-periodic-paralysis/">Hypokalemic periodic paralysis</a></li>
<li>Primary lateral sclerosis, juvenile, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/juvenile-primary-lateral-sclerosis/">Juvenile primary lateral sclerosis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-localized-cutaneous-amyloidosis/">Primary localized cutaneous amyloidosis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-macronodular-adrenal-hyperplasia/">Primary macronodular adrenal hyperplasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-myelofibrosis/">Primary myelofibrosis</a></li>
<li>Primary oxalosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
<li>Primary oxaluria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/">Primary hyperoxaluria</a></li>
<li>Primary parkinsonism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/parkinsons-disease/">Parkinson&#x27;s disease</a></li>
<li>Primary polycythemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycythemia-vera/">Polycythemia vera</a></li>
<li>Primary pulmonary hypertension, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis/">Primary sclerosing cholangitis</a></li>
<li>Primary senile degenerative dementia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alzheimers-disease/">Alzheimer&#x27;s disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax/">Primary spontaneous pneumothorax</a></li>
<li>Primary thrombocythemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/essential-thrombocythemia/">Essential thrombocythemia</a></li>
<li>Primary thrombocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/essential-thrombocythemia/">Essential thrombocythemia</a></li>
<li>Primary torsion dystonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
<li>Primitive renal tubule syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis/">Renal tubular dysgenesis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prion-disease/">Prion disease</a></li>
<li>Prion protein diseases, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prion-disease/">Prion disease</a></li>
<li>Prion-associated disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prion-disease/">Prion disease</a></li>
<li>Prion-induced disorders, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prion-disease/">Prion disease</a></li>
<li>Proaccelerin deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-v-deficiency/">Factor V deficiency</a></li>
<li>PROC deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/protein-c-deficiency/">Protein C deficiency</a></li>
<li>Proconvertin deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-vii-deficiency/">Factor VII deficiency</a></li>
<li>Progeria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/">Hutchinson-Gilford progeria syndrome</a></li>
<li>Progeria of childhood, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/">Hutchinson-Gilford progeria syndrome</a></li>
<li>Progressive autonomic failure with multiple system atrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-system-atrophy/">Multiple system atrophy</a></li>
<li>Progressive bulbar palsy with sensorineural deafness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/riboflavin-transporter-deficiency-neuronopathy/">Riboflavin transporter deficiency neuronopathy</a></li>
<li>Progressive cardiac conduction defect, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-familial-heart-block/">Progressive familial heart block</a></li>
<li>Progressive 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>Progressive diaphyseal dysplasia, <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/progressive-external-ophthalmoplegia/">Progressive external ophthalmoplegia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-familial-heart-block/">Progressive familial heart block</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis/">Progressive familial intrahepatic cholestasis</a></li>
<li>Progressive intracranial arterial occlusion, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/moyamoya-disease/">Moyamoya disease</a></li>
<li>Progressive intracranial occlusive arteropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/moyamoya-disease/">Moyamoya disease</a></li>
<li>Progressive muscular dystrophy, oculopharyngeal type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/oculopharyngeal-muscular-dystrophy/">Oculopharyngeal muscular dystrophy</a></li>
<li>Progressive myoclonic epilepsy 1A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
<li>Progressive myoclonic epilepsy 1B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
<li>Progressive myoclonic epilepsy type 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy/">Lafora progressive myoclonus epilepsy</a></li>
<li>Progressive myoclonus epilepsy type 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
<li>Progressive myoclonus epilepsy with ataxia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
<li>Progressive myoclonus epilepsy with renal failure, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonusrenal failure syndrome</a></li>
<li>Progressive myoclonus epilepsy, Lafora type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy/">Lafora progressive myoclonus epilepsy</a></li>
<li>Progressive myositis ossificans, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva/">Fibrodysplasia ossificans progressiva</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/">Progressive osseous heteroplasia</a></li>
<li>Progressive ossifying myositis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva/">Fibrodysplasia ossificans progressiva</a></li>
<li>Progressive pseudorheumatoid arthropathy of childhood, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia/">Progressive pseudorheumatoid dysplasia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-pseudorheumatoid-dysplasia/">Progressive pseudorheumatoid dysplasia</a></li>
<li>Progressive pseudorheumatoid dysplasia with hypoplastic toes, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening/">Spondyloepiphyseal dysplasia with metatarsal shortening</a></li>
<li>Progressive scleroderma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/systemic-scleroderma/">Systemic scleroderma</a></li>
<li>Progressive sclerosing poliodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome/">Alpers-Huttenlocher syndrome</a></li>
<li>Progressive supranuclear ophthalmoplegia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy/">Progressive supranuclear palsy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy/">Progressive supranuclear palsy</a></li>
<li>Progressive symmetrical erythrokeratoderma of Gottron, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
<li>Progressive tapetochoroidal dystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/choroideremia/">Choroideremia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prolidase-deficiency/">Prolidase deficiency</a></li>
<li>Proline oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperprolinemia/">Hyperprolinemia</a></li>
<li>Prolinemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperprolinemia/">Hyperprolinemia</a></li>
<li>Prolonged electroretinal response suppression, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bradyopsia/">Bradyopsia</a></li>
<li>Prolonged QT interval in EKG and sudden death, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/">Jervell and Lange-Nielsen syndrome</a></li>
<li>Prominent incisors-obesity-hypotonia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cohen-syndrome/">Cohen syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/">Proopiomelanocortin deficiency</a></li>
<li>PROP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/propionic-acidemia/">Propionic acidemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/propionic-acidemia/">Propionic acidemia</a></li>
<li>Propionicacidemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/propionic-acidemia/">Propionic acidemia</a></li>
<li>Propionyl-CoA carboxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/propionic-acidemia/">Propionic acidemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li>Prostate carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li>Prostate neoplasm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li>Prostatic cancer, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li>Prostatic carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li>Prostatic neoplasm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prostate-cancer/">Prostate cancer</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/protein-c-deficiency/">Protein C deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/protein-s-deficiency/">Protein S deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/proteus-syndrome/">Proteus syndrome</a></li>
<li>Prothrombin conversion accelerator deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-vii-deficiency/">Factor VII deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prothrombin-deficiency/">Prothrombin deficiency</a></li>
<li>Prothrombin G20210A thrombophilia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/">Prothrombin thrombophilia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/">Prothrombin thrombophilia</a></li>
<li>Prothrombin-related thrombophilia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia/">Prothrombin thrombophilia</a></li>
<li>Proximal 11p deletion syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome/">Potocki-Shaffer syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/proximal-18q-deletion-syndrome/">Proximal 18q deletion syndrome</a></li>
<li>Proximal SMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy/">Spinal muscular atrophy</a></li>
<li>PRPP synthetase overactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>PRPP synthetase superactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>PRPS1 superactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>PRS overactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>PRS superactivity, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity/">Phosphoribosylpyrophosphate synthetase superactivity</a></li>
<li>PRTS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/partington-syndrome/">Partington syndrome</a></li>
<li>PRV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycythemia-vera/">Polycythemia vera</a></li>
<li>PS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/proteus-syndrome/">Proteus syndrome</a></li>
<li>PSACH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudoachondroplasia/">Pseudoachondroplasia</a></li>
<li>PSC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-sclerosing-cholangitis/">Primary sclerosing cholangitis</a></li>
<li>Pseudo-Hurler polydystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mucolipidosis-iii-alpha-beta/">Mucolipidosis III alpha/beta</a></li>
<li>Pseudo-Hurler polydystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma/">Mucolipidosis III gamma</a></li>
<li>Pseudo-NALD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li>
<li>Pseudo-obstruction of intestine, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
<li>Pseudo-Ullrich-Turner syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/noonan-syndrome/">Noonan syndrome</a></li>
<li>Pseudo-Zellweger syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/d-bifunctional-protein-deficiency/">D-bifunctional protein deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pseudoachondroplasia/">Pseudoachondroplasia</a></li>
<li>Pseudoachondroplastic dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudoachondroplasia/">Pseudoachondroplasia</a></li>
<li>Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudoachondroplasia/">Pseudoachondroplasia</a></li>
<li>Pseudoadrenoleukodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li>
<li>Pseudoaldosteronism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/liddle-syndrome/">Liddle syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/">Pseudocholinesterase deficiency</a></li>
<li>Pseudocholinesterase E1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/">Pseudocholinesterase deficiency</a></li>
<li>Pseudoglioma congenita, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li>
<li>Pseudohermaphroditism, male, with gynecomastia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/">17-beta hydroxysteroid dehydrogenase 3 deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-1/">Pseudohypoaldosteronism type 1</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2/">Pseudohypoaldosteronism type 2</a></li>
<li>Pseudohypoaldosteronism type I, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-1/">Pseudohypoaldosteronism type 1</a></li>
<li>Pseudohypoaldosteronism type II, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudohypoaldosteronism-type-2/">Pseudohypoaldosteronism type 2</a></li>
<li>Pseudointestinal obstruction syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
<li>Pseudoneonatal adrenoleukodystrophy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency/">Peroxisomal acyl-CoA oxidase deficiency</a></li>
<li>Pseudoobstructive syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
<li>Pseudoprimary hyperaldosteronism, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/liddle-syndrome/">Liddle syndrome</a></li>
<li>Pseudothalidomide syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/roberts-syndrome/">Roberts syndrome</a></li>
<li>Pseudotoxoplasmosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
<li>Pseudovaginal perineoscrotal hypospadias, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/5-alpha-reductase-deficiency/">5-alpha reductase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum/">Pseudoxanthoma elasticum</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/psoriatic-arthritis/">Psoriatic arthritis</a></li>
<li>Psoriatic arthropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/psoriatic-arthritis/">Psoriatic arthritis</a></li>
<li>PSP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax/">Primary spontaneous pneumothorax</a></li>
<li>PSP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy/">Progressive supranuclear palsy</a></li>
<li>Psychosine lipidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/krabbe-disease/">Krabbe disease</a></li>
<li>PTA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/factor-xi-deficiency/">Factor XI deficiency</a></li>
<li>PTD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/bjornstad-syndrome/">Björnstad syndrome</a></li>
<li>Pterygium syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-pterygium-syndrome/">Multiple pterygium syndrome</a></li>
<li>PTHS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome/">Pitt-Hopkins syndrome</a></li>
<li>PTLS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome/">Potocki-Lupski syndrome</a></li>
<li>Ptosis of eyelids with diastasis recti and hip dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
<li>Ptosis-strabismus-rectus abdominis diastasis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/3mc-syndrome/">3MC syndrome</a></li>
<li>Pubertas praecox, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty/">Familial male-limited precocious puberty</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pulmonary-alveolar-microlithiasis/">Pulmonary alveolar microlithiasis</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension/">Pulmonary arterial hypertension</a></li>
<li>Pulmonary cancer, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lung-cancer/">Lung cancer</a></li>
<li>Pulmonary carcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lung-cancer/">Lung cancer</a></li>
<li>Pulmonary neoplasms, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lung-cancer/">Lung cancer</a></li>
<li>Pulmonary surfactant metabolism dysfunction, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/surfactant-dysfunction/">Surfactant dysfunction</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/">Pulmonary veno-occlusive disease</a></li>
<li>Pulmonary venoocclusive disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/">Pulmonary veno-occlusive disease</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pura-syndrome/">PURA syndrome</a></li>
<li>PURA-related neurodevelopmental disorder, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pura-syndrome/">PURA syndrome</a></li>
<li>PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pura-syndrome/">PURA syndrome</a></li>
<li>Pure gonadal dysgenesis 46,XY, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/swyer-syndrome/">Swyer syndrome</a></li>
<li>Pure hereditary red cell aplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
<li>Puretic syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyaline-fibromatosis-syndrome/">Hyaline fibromatosis syndrome</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/purine-nucleoside-phosphorylase-deficiency/">Purine nucleoside phosphorylase deficiency</a></li>
<li>Purpura, thrombotic thrombocytopenic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/thrombotic-thrombocytopenic-purpura/">Thrombotic thrombocytopenic purpura</a></li>
<li>Purtilo syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease/">X-linked lymphoproliferative disease</a></li>
<li>PV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/polycythemia-vera/">Polycythemia vera</a></li>
<li>PVOD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/">Pulmonary veno-occlusive disease</a></li>
<li>PWS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prader-willi-syndrome/">Prader-Willi syndrome</a></li>
<li>PXE, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pseudoxanthoma-elasticum/">Pseudoxanthoma elasticum</a></li>
<li>PYGM deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/">Glycogen storage disease type V</a></li>
<li>Pykno-epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li>
<li>Pyknolepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/childhood-absence-epilepsy/">Childhood absence epilepsy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyle-disease/">Pyle disease</a></li>
<li>Pyle metaphyseal dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyle-disease/">Pyle disease</a></li>
<li>Pyle&#x27;s disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyle-disease/">Pyle disease</a></li>
<li>Pyle&#x27;s metaphyseal dysplasia syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyle-disease/">Pyle disease</a></li>
<li>Pyogenic bacterial infections due to MyD88 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/myd88-deficiency/">MyD88 deficiency</a></li>
<li>Pyridoxal 5-phosphate-dependent epilepsy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyridoxal phosphate-dependent seizures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyridoxamine 5&#x27;-oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyridoxamine 5&#x27;-phosphate oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyridoxamine 5-prime-phosphate oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyridoxine dependency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li>Pyridoxine dependency with seizures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li>Pyridoxine-dependent seizures, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
<li>Pyridoxine-resistant seizures, PLP-sensitive, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/">Pyridoxal phosphate-responsive seizures</a></li>
<li>Pyroglutamic acidemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
<li>Pyroglutamic aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutathione-synthetase-deficiency/">Glutathione synthetase deficiency</a></li>
<li>Pyrroline carboxylate dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperprolinemia/">Hyperprolinemia</a></li>
<li>Pyrroline-5-carboxylate dehydrogenase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hyperprolinemia/">Hyperprolinemia</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/">Pyruvate carboxylase deficiency</a></li>
<li>Pyruvate carboxylase deficiency disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-carboxylase-deficiency/">Pyruvate carboxylase deficiency</a></li>
<li>Pyruvate dehydrogenase complex deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyruvate-dehydrogenase-deficiency/">Pyruvate dehydrogenase deficiency</a></li>
<li><a href="https://medlineplus.gov/genetics/condition/pyruvate-kinase-deficiency/">Pyruvate kinase deficiency</a></li>
</ul>
</section>
<section>
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