ABNORMALITY OF THE INTEGUMENT, HP:0001574

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOTRICHOSIS 6, ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ARTHROGRYPOSIS, DISTAL, TYPE 5, FACTOR V DEFICIENCY, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), MANNOSIDOSIS, ALPHA-, TYPES I AND II, HYPOTRICHOSIS 12, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, TREACHER COLLINS SYNDROME 1, AICARDI-GOUTIERES SYNDROME 7, KERATOSIS PALMOPLANTARIS STRIATA III, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, OHDO SYNDROME, X-LINKED, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, LYMPHEDEMA, HEREDITARY, IC, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ?SPINOCEREBELLAR ATAXIA 34, ACRODERMATITIS ENTEROPATHICA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, POROKERATOSIS 3, MULTIPLE TYPES, SICKLE CELL ANEMIA, BRACHIOOTIC SYNDROME 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, PERIODONTITIS 1, JUVENILE, THROMBOCYTOPENIA 5, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, GLUCOCORTICOID DEFICIENCY 2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, WISKOTT-ALDRICH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 1, GLOMUVENOUS MALFORMATIONS, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, TRICHOMEGALY, CARDIOFACIOCUTANEOUS SYNDROME 4, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, ?RENAL HYPODYSPLASIA/APLASIA 2, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ARTHROGRYPOSIS, DISTAL, TYPE 3, ACNE INVERSA, FAMILIAL, 1, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, OCCIPITAL HORN SYNDROME, RAPADILINO SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 12, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPHEROCYTOSIS, TYPE 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?GLYCOPROTEIN IA DEFICIENCY, ZINC DEFICIENCY, TRANSIENT NEONATAL, GALACTOKINASE DEFICIENCY WITH CATARACTS, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, KERATOSIS, SEBORRHEIC, SOMATIC, SINGLETON-MERTEN SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, KBG SYNDROME, NIJMEGEN BREAKAGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MELNICK-FRASER SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, CYANOSIS, TRANSIENT NEONATAL, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FLOATING-HARBOR SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CRANIOSYNOSTOSIS 3, WOOLLY HAIR, AUTOSOMAL DOMINANT, PRADER-WILLI SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOTRICHOSIS 4, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, ALOPECIA UNIVERSALIS, COWDEN SYNDROME 6, ACROMELIC FRONTONASAL DYSOSTOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FRONTONASAL DYSPLASIA 1, ?PEELING SKIN SYNDROME 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, HEIMLER SYNDROME 2, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, ?CANDIDIASIS, FAMILIAL, 6, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), WOOLLY HAIR, AUTOSOMAL RECESSIVE 2 WITH OR WITHOUT HYPOTRICHOSIS, HYPOTRICHOSIS 7, NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HERMANSKY-PUDLAK SYNDROME 5, TRICHOHEPATOENTERIC SYNDROME 1, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, HYPOTRICHOSIS 11, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 4, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MUENKE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, VARIANT TYPE, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, OGDEN SYNDROME, [GILBERT SYNDROME], ADAMS-OLIVER SYNDROME 2, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, TUBEROUS SCLEROSIS-1, SMITH-MAGENIS SYNDROME, MICROPHTHALMIA, ISOLATED 5, COUSIN SYNDROME, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, COCOON SYNDROME, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, VAN MALDERGEM SYNDROME 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, MUCOPOLYSACCHARIDOSIS IH/S, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ADAMS-OLIVER SYNDROME 6, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, CORPUS CALLOSUM AGENESIS, DOWLING-DEGOS DISEASE 2, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OSTEOGENESIS IMPERFECTA, TYPE XI, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, MASS SYNDROME, ABCD SYNDROME, PEELING SKIN SYNDROME 2, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS, IMMUNODEFICIENCY 9, NOONAN SYNDROME 7, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, GLASS SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, CARTILAGE-HAIR HYPOPLASIA, CIRRHOSIS, NORTH AMERICAN INDIAN CHILDHOOD TYPE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, UV-SENSITIVE SYNDROME 1, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, KAUFMAN OCULOCEREBROFACIAL SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ALBINISM, OCULOCUTANEOUS, TYPE VII, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, COLD-INDUCED SWEATING SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, ?OTOFACIOCERVICAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, SHAHEEN SYNDROME, HEIMLER SYNDROME 1, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, BRACHYDACTYLY, TYPE B2, MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, COLE DISEASE, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, HYPERCHOLESTEROLEMIA, FAMILIAL, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, FACTOR XIIIB DEFICIENCY, MEDNIK SYNDROME, FAMILIAL ADENOMATOUS POLYPOSIS 3, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, FOCAL DERMAL HYPOPLASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MELNICK-NEEDLES SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IB, WATSON SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?REYNOLDS SYNDROME, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, DEAFNESS, AUTOSOMAL DOMINANT 23, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ARTERIAL TORTUOSITY SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, LEOPARD SYNDROME 3, ADULT SYNDROME, SPHEROCYTOSIS, TYPE 1, [SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR], [SKIN/HAIR/EYE PIGMENTATION 6, BLUE/GREEN EYES], HYPOPHOSPHATASIA, INFANTILE, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, ALBINISM, OCULOCUTANEOUS, TYPE III, KABUKI SYNDROME 2, PROPIONICACIDEMIA, BART-PUMPHREY SYNDROME, NEU-LAXOVA SYNDROME 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, PEELING SKIN SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XVII, EPIDERMOLYTIC HYPERKERATOSIS, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ARTHROGRYPOSIS, DISTAL, TYPE 5D, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, ATAXIA-TELANGIECTASIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, RENPENNING SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIGEORGE SYNDROME, OMODYSPLASIA 1, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, 3MC SYNDROME 2, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, FILIPPI SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MULIBREY NANISM, LYMPHEDEMA, HEREDITARY, ID, BJORNSTAD SYNDROME, SOTOS SYNDROME 1, PELGER-HUET ANOMALY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY, PREMATURE OVARIAN FAILURE 4, OVARIAN DYSGENESIS 2, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ?CHILBLAIN LUPUS 2, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 6, AMYLOIDOSIS, FINNISH TYPE, C5 DEFICIENCY, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, CORTISONE REDUCTASE DEFICIENCY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?FRONTONASAL DYSPLASIA 3, BROOKE-SPIEGLER SYNDROME, CURRARINO SYNDROME, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, LEGIUS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CORTISONE REDUCTASE DEFICIENCY 2, TERMINAL OSSEOUS DYSPLASIA, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NOONAN SYNDROME 8, ROIFMAN SYNDROME, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, CHAR SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, PROLIDASE DEFICIENCY, CARBOXYPEPTIDASE N DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CRIGLER-NAJJAR SYNDROME, TYPE I, CHANARIN-DORFMAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 11, ECTODERMAL, DYSPLASIA, ANHIDROTIC, LYMPHEDEMA AND IMMUNODEFICIENCY, FRUCTOSE INTOLERANCE, LIVER FAILURE, TRANSIENT INFANTILE, POIKILODERMA WITH NEUTROPENIA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PARAGANGLIOMAS 4, DIAMOND-BLACKFAN ANEMIA 1, KINDLER SYNDROME, LEOPARD SYNDROME 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, GM1-GANGLIOSIDOSIS, TYPE I, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ALBINISM, OCULOCUTANEOUS, TYPE IV, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 10, ?HYPOTRICHOSIS 3, HYPEROXALURIA, PRIMARY, TYPE 1, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ?XFE PROGEROID SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, HOLOPROSENCEPHALY-5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?HYPOTRICHOSIS 13, DESBUQUOIS DYSPLASIA 2, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MICROPHTHALMIA, SYNDROMIC 2, DENTAL ANOMALIES AND SHORT STATURE, ALAGILLE SYNDROME, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, TENORIO SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CHOPS SYNDROME, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NIEMANN-PICK DISEASE TYPE C1, HYPOTRICHOSIS 8, PAPILLORENAL SYNDROME, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, CEREBELLOFACIODENTAL SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, HYALINE FIBROMATOSIS SYNDROME, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ESCOBAR SYNDROME, PIEBALDISM, RESTRICTIVE DERMOPATHY, LETHAL, ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, ADAMS-OLIVER SYNDROME 4, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?FACIAL CLEFTING, OBLIQUE, 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GALLBLADDER DISEASE 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ?OLMSTED SYNDROME, X-LINKED, ?WISKOTT-ALDRICH SYNDROME 2, ULNAR-MAMMARY SYNDROME, POROKERATOSIS 7, MULTIPLE TYPES, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PITYRIASIS RUBRA PILARIS, GLYCOGEN STORAGE DISEASE VII, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, KLIPPEL-FEIL SYNDROME 2, DIAPHANOSPONDYLODYSOSTOSIS, NEUROFIBROMATOSIS, TYPE 2, FUHRMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, OLIVER-MCFARLANE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, BRANCHIOOTORENAL SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION, HEMOPHILIA A, HEMOCHROMATOSIS, TYPE 3, SJOGREN-LARSSON SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, ANDERSEN SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, TEMTAMY SYNDROME, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, C2 DEFICIENCY, CEREBROOCULOFACIOSKELETAL SYNDROME 2, BASAL CELL CARCINOMA, SOMATIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, ANONYCHIA CONGENITA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ANGIOEDEMA, HEREDITARY, TYPE III, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP G, WARBURG MICRO SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CUTANEOUS MALIGNANT MELANOMA 8, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIMB-MAMMARY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, NOONAN SYNDROME 6, RAINE SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, PACHYONYCHIA CONGENITA 3, FRONTOMETAPHYSEAL DYSPLASIA, MICROPHTHALMIA, SYNDROMIC 14, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, YUNIS-VARON SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, SITOSTEROLEMIA, GIANT AXONAL NEUROPATHY-1, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALSTROM SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, CEREBROOCULOFACIOSKELETAL SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP P, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, OPITZ GBBB SYNDROME, TYPE I, MECKEL SYNDROME 10, DOWLING-DEGOS DISEASE 1, GREENBERG SKELETAL DYSPLASIA, INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, VAN DER WOUDE SYNDROME, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, SPONDYLOOCULAR SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, VOHWINKEL SYNDROME WITH ICHTHYOSIS, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, FILS SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MARTSOLF SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, OSTEOGENESIS IMPERFECTA, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE IB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, BIOTINIDASE DEFICIENCY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, GERODERMA OSTEODYSPLASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCLEROSTEOSIS 2, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GRISCELLI SYNDROME, TYPE 3, MICROPHTHALMIA WITH LIMB ANOMALIES, CYLINDROMATOSIS, FAMILIAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA IIA, HERMANSKY-PUDLAK SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CHIME SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GALLOWAY-MOWAT SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?PRUNE BELLY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SCLEROSTEOSIS 1, FANCONI ANEMIA, COMPLEMENTATION GROUP N, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, ?CRANIOECTODERMAL DYSPLASIA 4, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, DERMATOPATHIA PIGMENTOSA RETICULARIS, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COFFIN-SIRIS SYNDROME 2, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PEUTZ-JEGHERS SYNDROME, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, PAPILLON-LEFEVRE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, HARTNUP DISORDER, PROUD SYNDROME, HYPERCHOLANEMIA, FAMILIAL, DOOR SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, JOUBERT SYNDROME-3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHILBLAIN LUPUS, TYLOSIS WITH ESOPHAGEAL CANCER, VIBRATORY URTICARIA, COWDEN SYNDROME 4, LOEYS-DIETZ SYNDROME 1, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, PACHYONYCHIA CONGENITA 1, EHLERS-DANLOS SYNDROME, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HOLOPROSENCEPHALY 11, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, CATEL-MANZKE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MANITOBA OCULOTRICHOANAL SYNDROME, HAY-WELLS SYNDROME, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, COWDEN SYNDROME 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, STEATOCYSTOMA MULTIPLEX, ?SNEDDON SYNDROME, C1R/C1S DEFICIENCY, COMBINED, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMODYSPLASIA VERRUCIFORMIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, WAARDENBURG SYNDROME, TYPE 4C, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, C4A DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46XY SEX REVERSAL, PARTIAL OR COMPLETE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SECKEL SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, ATRICHIA WITH PAPULAR LESIONS, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, RITSCHER-SCHINZEL SYNDROME 2, ?MENTAL RETARDATION, X-LINKED 91, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MANNOSIDOSIS, BETA, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, CARPENTER SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, GAUCHER DISEASE, TYPE I, {ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO}, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, ROBERTS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PETERS-PLUS SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, HUTCHINSON-GILFORD PROGERIA, PSORIASIS 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ICHTHYOSIS VULGARIS, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, FARBER LIPOGRANULOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CYCLIC VOMITING SYNDROME; CVS, ARGININOSUCCINIC ACIDURIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, GLYCOGEN STORAGE DISEASE XII, SCALP-EAR-NIPPLE SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME 2, ACNE INVERSA, FAMILIAL, 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, BURN-MCKEOWN SYNDROME, PSORIASIS 14, PUSTULAR, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, TRIGONOCEPHALY 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SMITH-LEMLI-OPITZ SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, [SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 (MELANESIAN BLOND HAIR)], HYPOTRICHOSIS 1, PEROXISOME BIOGENESIS DISORDER 3B, BIRT-HOGG-DUBE SYNDROME, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ABLEPHARON-MACROSTOMIA SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPOTRICHOSIS 2, OCULODENTODIGITAL DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 8, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SULFITE OXIDASE DEFICIENCY, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, CEREBRAL CAVERNOUS MALFORMATIONS-2, ?IMMUNODEFICIENCY 16, METHEMOGLOBINEMIA, TYPE IV, MUCOLIPIDOSIS III ALPHA/BETA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ?UROCANASE DEFICIENCY, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10, ?TRICHOTILLOMANIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, HYPER-IGE RECURRENT INFECTION SYNDROME, CONE-ROD DYSTROPHY 10, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HAIM-MUNK SYNDROME, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, PARIETAL FORAMINA 1, BAINBRIDGE-ROPERS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, VAN MALDERGEM SYNDROME 1, OMENN SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, THYROID DYSHORMONOGENESIS 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, WOODHOUSE-SAKATI SYNDROME, ETHYLMALONIC ENCEPHALOPATHY, KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, LOWE SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HAILEY-HAILEY DISEASE, HEMOCHROMATOSIS, TYPE 2A, CRIGLER-NAJJAR SYNDROME, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CORNELIA DE LANGE SYNDROME 4, NIEMANN-PICK DISEASE, TYPE C2, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, {VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ELLIS-VAN CREVELD SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, MENTAL RETARDATION, X-LINKED 21/34, GRAY PLATELET SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), XERODERMA PIGMENTOSUM, TYPE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, HERMANSKY-PUDLAK SYNDROME 9, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ALPORT SYNDROME, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, CHILD SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 2, OPITZ-KAVEGGIA SYNDROME, DARIER DISEASE, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME, PCWH SYNDROME, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MUIR-TORRE SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, CRANIOECTODERMAL DYSPLASIA 2, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, GELEOPHYSIC DYSPLASIA 1, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, DU PAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, PANCREATIC CANCER/MELANOMA SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, MONILETHRIX, ?MONILETHRIX, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, EHLERS-DANLOS SYNDROME, TYPE VIIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, XERODERMA PIGMENTOSUM, GROUP D, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ICHTHYOSIS BULLOSA OF SIEMENS, MISMATCH REPAIR CANCER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LOEYS-DIETZ SYNDROME 4, UV-SENSITIVE SYNDROME 3, CRANIOSYNOSTOSIS 6, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, PANCREATIC AND CEREBELLAR AGENESIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, MYHRE SYNDROME, HAMAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, PACHYONYCHIA CONGENITA 4, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BEAULIEU-BOYCOTT-INNES SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1C, AUTOSOMAL RECESSIVE, ACROKERATOSIS VERRUCIFORMIS, KERATOSIS PALMOPLANTARIS STRIATA II, KABUKI SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 2, HERMANSKY-PUDLAK SYNDROME 7, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, WHITE SPONGE NEVUS 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, TANGIER DISEASE, SPHEROCYTOSIS, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: CDH3, TCF12, APOE, SCN2A, MSH6, TMEM216, EDNRA, SLC5A5, TSC2, SAMHD1, CC2D2A, LBR, PSEN1, CIITA, GLI3, TBXA2R, PTPN22, SUOX, KRIT1, KL, RBBP8, TP63, DOCK7, CTNNB1, ETHE1, HBB, TTC7A, KCNJ2, SEMA4A, BCOR, NSDHL, PROS1, KDM6A, POLE, LYZ, B2M, TMEM237, SLC17A5, PIEZO2, NOG, KIF7, KIF1B, ITGA3, EOGT, RAB7A, TBC1D24, H6PD, GNPTAB, GSC, FREM1, POMGNT1, AGXT, WNK1, INPP5E, ARSE, PDGFRA, RPS19, GFI1B, PMS2, TGFBR2, CYP7B1, SPTB, MKS1, MSX2, MED25, SLC6A19, PEX5, EVC, SMARCA2, NF2, GP1BA, ALMS1, GJB4, APOA1, HAMP, COL6A2, DDX11, FCN3, IDS, GATAD2B, RNF6, SHMT1, MNX1, CARD9, CBS, BBS9, SKIV2L, CSTA, HAVCR1, CASK, MGAT2, BTD, APCDD1, GTF2H5, PTDSS1, MEGF8, MRE11A, DSP, SMARCE1, NR1I3, C4A, NTHL1, FBN2, GPC6, EFTUD2, CLEC7A, IL11RA, CYP4F22, AAAS, JUP, SGSH, VEGFC, APOC2, STEAP3, SERPINF2, SLC24A4, KRT85, FGD1, KRAS, NLRP3, ALAS2, MS4A2, FBXL4, RAG2, LTBP3, CHD7, ENPP1, TRAPPC9, KMT2A, CYB5R3, NDUFA10, SMC3, NDUFS7, MLPH, COQ2, GATA1, SLC35A2, MAN1B1, BANF1, NCF2, FANCE, GNAI3, PAX1, PMVK, TAT, SUFU, F13B, EP300, SMAD4, ERCC3, CD151, CDK5, DVL3, CHST14, TMCO1, SLC4A1, CEP290, NDUFAF2, TPM2, IL36RN, ITIH4, SLC2A1, IARS2, PYCR1, PNPLA6, PCK1, CHRNA1, PQBP1, ALG3, GP6, PPP2R1A, TUBB, TCTN1, CCDC28B, BBS7, AKT1, RIPK4, CPT2, TAPBP, AIP, GGCX, LRPPRC, HINT1, ALX3, KRT71, BRIP1, CFH, ABCB4, ARID1B, LPL, COX15, KRT17, EZH2, TWIST1, RPGRIP1L, DSG4, SLC19A1, LRAT, FANCA, ORC1, EFNB1, FAR1, XRCC4, XPC, NOD2, NAA10, ZEB2, F5, GJC2, PDE4D, SLC7A7, POLA1, CHST3, CUL4B, LAMC2, SPTLC2, RAB18, TGM5, SPINK5, MANBA, AQP5, OSMR, HGSNAT, PIGA, UBE2A, GALK1, PIGL, SEC23A, FAT4, PTPN11, CXCR4, SOS2, GATA4, RPL21, CAST, DMPK, EPG5, P2RY12, IER3IP1, ENG, PDSS1, SRD5A2, HOXC13, SMOC1, PCCA, DST, EDN3, PEX12, ALDOA, CTSA, PTPRC, CTSC, COL5A2, ESCO2, EDARADD, PHF11, GMPPA, SLC25A3, RAB40AL, VIPAS39, FH, CALR, RNF113A, CTNS, SOX11, ACVRL1, TFAP2B, FANCL, RSPO4, HLA-DQB1, EXPH5, AP3B1, COX7B, KRT14, ATP2A2, CDKN2A, COL11A1, TSC1, APOA5, BMPR2, TAP2, ABCD1, FGF5, NOP10, SKI, CCBE1, PLIN1, PRF1, GPI, TRIM32, RPS26, TREX1, IRX5, NDUFS8, NCF1, TECPR2, LZTFL1, NHLRC1, ACTB, SURF1, STIM1, SEMA3E, C10orf11, RAI1, ELOVL4, GNRHR, SNRPN, B3GLCT, NLRP1, CYLD, TNXB, TMEM127, WRAP53, CCT5, TTC8, IGF2, TSR2, ITGA2B, MCCC2, IL7R, G6PC3, HNRNPK, FGA, IL4R, TYR, WNT10A, ZBTB20, FGF20, BBS1, UBE3B, EDAR, COL4A5, IKBKAP, CDK5RAP2, NPR2, ANKRD26, TRNT1, MT-CO3, NBN, TMC8, COG6, SLC30A2, CYP11B1, MBTPS2, BBS2, DLL4, FOXN1, ADAR, NME1, HSD11B1, CHD2, GNAI2, IL2RG, MT-ND3, CUL7, KIF1A, OCRL, FIG4, DCPS, CRIPT, DDC, TRPM1, MMP2, ALDOB, FOXL2, HLA-C, TFAP2A, CREBBP, XPA, SHOC2, DPAGT1, CIDEC, ZIC2, PKLR, MYO5A, IL17RA, ANKRD11, TTC37, CCM2, SMAD9, ITGB4, AMACR, ECM1, TMC6, CYBB, CHUK, UBR1, ABCB11, AFF4, POC1A, SUCLG1, MYO18B, C5, XYLT2, DHFR, B9D2, HDAC8, WWOX, C2, MAP3K1, ABCC9, SPRED1, RBM10, MRPS16, RHAG, POFUT1, CCDC22, GNAS, LIPC, KAT6B, ZMPSTE24, MEN1, FGFR3, GDNF, SPECC1L, PPP1R17, PNPLA1, WDPCP, HOXA11, STS, BCO1, FGF23, NLRP5, CPN1, RMRP, LIPI, BMS1, UTP4, DLX3, PRDM12, NDUFS3, POMP, MC1R, CD81, FBXO31, BBS12, B4GALT7, ALPL, BMP1, FOLR1, MT-ATP6, ETFDH, MT-TL1, HBG2, KRT5, RASA1, FLT4, GNS, F12, GHR, G6PD, KLC2, SLC17A9, RIN2, ABCG5, SART3, NFKB2, UGT1A4, BMP2, KCNJ5, EPM2A, POMC, ASXL3, ALDH3A2, GDF5, EDNRB, GLUL, NDN, BBS10, SMC1A, AP1S3, PLEC, KANSL1, VDR, FGFR1, ASCL1, NAGLU, DSC3, AXIN2, FRAS1, FAM111B, EGFR, COG4, DHCR7, ALOXE3, IL31RA, MTR, TNFRSF10B, TCTN2, UROS, LMNB2, NIPBL, PIGR, PSTPIP1, LDLRAP1, SFTPB, FOXRED1, ATP2C1, NF1, VPS13B, FREM2, LZTR1, KCNH1, MAF, ANTXR1, ACP5, TXNL4A, ITGA6, KIT, HPS4, MUTYH, ERCC2, KRT6B, AIRE, KRT83, ARHGAP31, PEX1, SH2B3, AR, ZNF469, UQCC2, ZAP70, TTI2, MTFMT, KRT8, SLC12A6, PAX3, ACTG1, P2RX1, ASXL1, ROR2, B3GAT3, KRT13, TGFB1, SLC39A4, SOST, MSX1, KMT2D, DDX58, EIF2AK3, OFD1, SPTLC1, STAT1, IFT43, PEX7, F8, TFR2, RECQL4, MBD5, NOTCH2, COL6A3, CERS3, ETFA, BLM, FCGR2B, POLD1, TRIM37, IL6, PIK3R1, THRA, PUS1, HPS6, COLEC11, PCNA, BDNF, PIEZO1, BLOC1S3, PTF1A, AGA, CTLA4, FLNB, TMEM67, WNT4, CHST8, NECTIN1, EPOR, SMAD3, ALDH18A1, ADAM17, HSPG2, WDR73, HPGD, C10orf2, BMP15, ADGRE2, SOX10, SATB2, PLCB4, DCHS1, C3AR1, F2, TNFRSF1A, ASAH1, UGT1A1, CASP10, TUBGCP6, SALL1, TPI1, RAD21, SH3BP2, IFIH1, FAS, FUCA1, CYP27A1, IKBKG, HEXB, PLCD1, DEAF1, ANK1, CAV1, ATP6V1B2, KRT25, PMM2, KCNJ6, MOGS, MTHFR, NOTCH3, PPP1R3A, WDR35, STAP1, CLDN1, APOB, CTC1, SHANK3, SLC24A5, ECE1, CYB5A, STK11, SELP, HPS5, IL21R, SLC37A4, SETX, ARX, FGF3, MMP1, FANCM, KCNK9, NFKBIA, PIK3CA, NPC1, LTBP4, ST3GAL5, BMPER, WAS, JAG1, SMO, ECEL1, ST14, SLITRK1, HK1, PRKAG2, PRKACG, LDLR, BAP1, VPS37A, KRT9, B3GALT6, FANCD2, PCNT, TCOF1, FKBP10, UROC1, ACVR1, SMARCA4, RUNX1, CBL, TWIST2, NDUFAF6, CDKL5, FAM134B, GJB3, CLP1, ORAI1, MRPS22, DSC2, ANOS1, GDF6, CLUAP1, PARN, XYLT1, DCLRE1C, SLURP1, NDUFA12, FANCC, MLH1, ERCC6, CHRM3, SDHC, EDA, WIPF1, NTRK1, SCARF2, COL1A2, ITGA2, KRT1, RFXAP, ABCA1, JAK2, PLOD1, DGUOK, PROC, PLOD3, PSMB8, GUCY1A3, LMNA, CRLF1, GNAQ, CACNA1F, TAP1, SNX14, HPS1, TALDO1, KRT16, SPARC, ATL1, ABCG8, ERCC5, SNAP29, FKBP14, ADAMTS2, OCLN, TBX3, NDUFA9, IFNG, RBP4, GP9, PAPSS2, DEC1, RPS6KA3, STAMBP, ERCC8, CLCF1, ALX4, G6PC, ACD, CDON, TYRP1, PCCB, COL7A1, KCNA5, FCGR2A, FAM20C, NCSTN, PFKM, SETBP1, DKC1, SMPD1, ALOX12B, NBAS, C15orf41, ZIC1, SDHD, MKKS, GPR143, LMX1B, TJP2, KDM5C, ADAMTSL2, TBC1D20, CARD14, VHL, BBS4, SLC9A6, LEMD3, LTBP2, CHMP1A, PPOX, HFE2, NR3C1, ATL3, CYBA, SAMD9, FZD6, ITPR2, TMEM173, UROD, FOXC2, PHYH, COL3A1, MASTL, FBN1, PHGDH, GJB2, ADAMTS13, AAGAB, ZNF750, KRT74, CDK4, TINF2, TERT, ABCG2, H19, ATIC, PTEN, F13A1, ABCD3, GSN, TNNT2, IL17F, COX10, CHRND, PLG, STAT3, EHMT1, GDF2, ABCC6, AHI1, LRP4, SERPINC1, ZC4H2, SDHA, PKP1, SMARCB1, LHB, BAAT, RHBDF2, SERPING1, ASL, ATP8B1, DPM1, GALNT3, DOCK8, KMT2C, ALX1, PANK2, IGHMBP2, DNASE1, MYH9, TAF6, FGF10, KIF22, ERCC4, C12orf57, KITLG, GRIP1, TCF4, PEPD, SNRPE, SOS1, RBCK1, SIX5, TBX1, WDR19, GLB1, GBA, KCTD1, SLC2A10, THOC6, GATA6, LAMTOR2, TRH, CLASP1, PIGV, AUTS2, RIT1, HRAS, PEX6, POLG, MTAP, KRT10, BRF1, NDUFAF5, SFTPC, BSCL2, AGPAT2, HTRA1, USB1, NIPAL4, MPLKIP, ITGB3, POLH, ZSWIM6, NARS2, KIF1BP, HCCS, NSD1, PLAU, SRCAP, GNE, SMARCAD1, BRCA2, MAP2K1, HLCS, CD96, BBIP1, COL1A1, CNBP, CHRNG, GRHL2, SRD5A3, PIGT, EBP, BHLHA9, SLCO1B3, RAB27A, MFRP, SLCO1B1, PPARG, RFX5, COL5A1, PALB2, OCA2, PRKAR1A, SZT2, LIPN, GAN, ALB, DSG1, ELN, RBM28, BTK, ING1, KIAA0196, MAN2B1, IL2RA, SLC2A2, MRAP, NCF4, EFEMP2, CASP8, RAF1, KRT2, MPV17, IL10RA, TGM1, IDUA, NOTCH1, PTRF, BMP4, BLOC1S6, NDUFV1, SNAI2, RNF168, PDGFRB, MEOX1, RAB3GAP2, BBS5, POU1F1, FLG, HLA-DQA1, ABHD5, ATP6V0A2, TGDS, USP8, IL10RB, PTCH1, WNT7A, CTSK, APOA2, CECR1, FBLN5, NLRP12, TP53, FGFR2, ABCA12, NKX2-5, PLA2G7, PACS1, LYST, ETV6, CDAN1, GP1BB, CHKB, CPOX, LMNB1, LRP1, COL6A1, AKR1D1, TERC, EPHX1, MVD, MID1, SETD5, SDHB, EVC2, PAX2, GLMN, PTCH2, PDE11A, LIFR, ZFPM2, DOCK6, KRT18, TTPA, THPO, FASLG, NR0B1, NSUN2, RAB3GAP1, FANCG, C1R, NDUFS4, XPNPEP2, TGFBR1, ALDH2, SLC35C1, EPHX2, AP1S1, SOX18, NDUFA2, MAX, PCSK9, TNFRSF4, KRT6C, SLC19A2, ARL6, SF3B4, EYA1, PLOD2, ABCA5, NFIX, GORAB, LAMA3, FERMT1, RFXANK, BPGM, PSENEN, UVSSA, MAB21L2, PAX8, VPS33B, RNU4ATAC, KRT86, NECTIN4, RET, KLHL7, GJA1, CFHR3, IL1RAPL1, TTC21B, MYH3, WDR81, BCS1L, RPS28, MITF, VWF, DDB2, MECP2, MVK, MC2R, TGFB3, TGFB2, APC, LAMB3, SMARCAL1, NRAS, FOXP3, TBXAS1, SIX1, IFT122, IL1RN, STK4, KRT81, SCN11A, GALE, WNT5A, IHH, BRCA1, DTNBP1, CFI, RBM8A, MED12, ABCC2, PHOX2B, MAP2K2, KANK2, GJB6, RAG1, CHSY1, TRPV3, PSAT1, ARSB, RNF125, KCNN4, LIPH, ZDHHC15, TBX15, FLCN, SLC45A2, BRAF, NPC2, LPAR6, LMBRD1, GPX4, PAH, GUSB, SUMF1, NHP2, GPC3, LOR, FLNA, NGF, RAB23, ECHS1, HR, SEC23B, ATR, CYP11A1, PRNP, WRN, ATM, ING3, SLC39A13, ATP7A, KRT6A, ETFB, HLA-B, NFKB1, KLLN, PRKACA, DLX5, INSR, TRPS1, HYAL1, AKT3, SCN9A, ARID1A, MASP1, CEP57, CDSN, MSH2, COL17A1, ZNF592, PLCG2, NBEAL2, CD3G, FERMT3, UBE3A, ANTXR2, GLA, SERPINB7, COX4I2, RTEL1, MT-ND5, SLX4, GDF1, IRF6, PEX19, LZTS1, HFE, DLEC1, DCC, DOLK, PGM3, NAGA, MPDU1, CFHR1, COL4A3BP, MYH11, TRMU, PEX2, EXOC8, CKAP2L, FECH, DCAF17, HSD3B7, MTRR, PORCN, FTO