SKIN NAILS AND HAIR

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOTRICHOSIS 6, ATROPHODERMA VERMICULATUM, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, ARTHROGRYPOSIS, DISTAL, TYPE 5, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, HYPOTRICHOSIS 12, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, AICARDI-GOUTIERES SYNDROME 7, 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, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, KERATOSIS PALMOPLANTARIS STRIATA I, AD, ?SPINOCEREBELLAR ATAXIA 34, ACRODERMATITIS ENTEROPATHICA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {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, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, ?AL-GAZALI-BAKALINOVA SYNDROME, PERIODONTITIS 1, JUVENILE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE SYNOSTOSES SYNDROME 1, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, TRICHOMEGALY, FILIPPI SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, ?RENAL HYPODYSPLASIA/APLASIA 2, WARSAW BREAKAGE SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HAIM-MUNK SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 3, ACNE INVERSA, FAMILIAL, 1, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, MICROPHTHALMIA, SYNDROMIC 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8, FUHRMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HYPERCHLORHIDROSIS, ISOLATED, GLASS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?GLYCOPROTEIN IA DEFICIENCY, ZINC DEFICIENCY, TRANSIENT NEONATAL, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, KBG SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, 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, BRUCK SYNDROME 1, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, NOONAN SYNDROME 8, CYANOSIS, TRANSIENT NEONATAL, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, PRETIBIAL, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CRANIOSYNOSTOSIS 3, HYPERBILIVERDINEMIA, WOOLLY HAIR, AUTOSOMAL DOMINANT, PRADER-WILLI SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DERMATOPATHIA PIGMENTOSA RETICULARIS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, HARTNUP DISORDER, ACROMELIC FRONTONASAL DYSOSTOSIS, TYLOSIS WITH ESOPHAGEAL CANCER, VIBRATORY URTICARIA, ?PEELING SKIN SYNDROME 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, WAARDENBURG SYNDROME, TYPE 4C, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?CHILBLAIN LUPUS 2, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 3, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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, CARNEY COMPLEX, TYPE 1, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ETHYLMALONIC ENCEPHALOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, MUENKE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, TARP SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 1, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 5, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, OGDEN 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, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, VAN MALDERGEM SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IA, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENKES DISEASE, GALLBLADDER DISEASE 1, DOWLING-DEGOS DISEASE 2, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, ?CANDIDIASIS, FAMILIAL, 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, HAY-WELLS SYNDROME, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), OVARIAN DYSGENESIS 4, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, NOONAN SYNDROME 7, WARBURG MICRO SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CARTILAGE-HAIR HYPOPLASIA, 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, ROIFMAN SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, ALBINISM, OCULOCUTANEOUS, TYPE VII, COENZYME Q10 DEFICIENCY, PRIMARY, 2, 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, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, COLD-INDUCED SWEATING SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, HOLOPROSENCEPHALY-5, HEIMLER SYNDROME 1, SHAHEEN SYNDROME, RIDDLE SYNDROME, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, EPISODIC PAIN SYNDROME, FAMILIAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, RUIJS-AALFS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, POPLITEAL PTERYGIUM SYNDROME 1, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLUCOCORTICOID DEFICIENCY 2, FANCONI ANEMIA, COMPLEMENTATION GROUP P, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, 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, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, BLAU SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, PACHYONYCHIA CONGENITA 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, ARTHROGRYPOSIS, DISTAL, TYPE 8, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ARTERIAL TORTUOSITY SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, SPHEROCYTOSIS, TYPE 4, LEOPARD SYNDROME 3, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, STORMORKEN SYNDROME, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XVII, GRISCELLI SYNDROME, TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, WOODHOUSE-SAKATI SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BIRT-HOGG-DUBE SYNDROME, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, RENPENNING SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ISCHIOCOXOPODOPATELLAR SYNDROME, OMODYSPLASIA 1, AICARDI-GOUTIERES SYNDROME 5, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, C SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, TOOTH AGENESIS, SELECTIVE, 4, HEMOCHROMATOSIS, TYPE 2B, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULIBREY NANISM, CINCA SYNDROME, SOTOS SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EPISODIC PAIN SYNDROME, FAMILIAL, 2, 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, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, GELEOPHYSIC DYSPLASIA 1, CORTISONE REDUCTASE DEFICIENCY 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, BROOKE-SPIEGLER SYNDROME, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, HERMANSKY-PUDLAK SYNDROME 2, CORTISONE REDUCTASE DEFICIENCY 2, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, ?OROFACIAL CLEFT 15, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, CRIGLER-NAJJAR SYNDROME, TYPE I, PEROXISOME BIOGENESIS DISORDER 3B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRUCTOSE INTOLERANCE, LIVER FAILURE, TRANSIENT INFANTILE, POIKILODERMA WITH NEUTROPENIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, LEIOMYOMATOSIS AND RENAL CELL CANCER, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PARAGANGLIOMAS 4, KINDLER SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, BOHRING-OPITZ SYNDROME, BRITTLE CORNEA SYNDROME 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CHIME SYNDROME, PAROXYSMAL EXTREME PAIN DISORDER, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, 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, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, ALAGILLE SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, FIBROCHONDROGENESIS 1, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, BIOTINIDASE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?IMMUNODEFICIENCY 13, CHOPS SYNDROME, ?HYPOTRICHOSIS 13, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, MELEDA DISEASE, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, C4A DEFICIENCY, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, [HISTIDINEMIA], KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, HYALINE FIBROMATOSIS SYNDROME, IMMUNODEFICIENCY 42, 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, NEU-LAXOVA SYNDROME 2, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ADAMS-OLIVER SYNDROME 4, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OLIGODONTIA-COLORECTAL CANCER SYNDROME, LESCH-NYHAN SYNDROME, ?OLMSTED SYNDROME, X-LINKED, COMPLEMENT FACTOR I DEFICIENCY, 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, BRACHYDACTYLY, TYPE B1, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, LYMPHEDEMA, HEREDITARY, IC, GRISCELLI SYNDROME, TYPE 2, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?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, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, 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, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, BECKWITH-WIEDEMANN SYNDROME, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, 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 II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA 2, ?THROMBOCYTOPENIA-2, EHLERS-DANLOS SYNDROME, TYPE 3, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6, RITSCHER-SCHINZEL SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ANONYCHIA CONGENITA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, TRICHODONTOOSSEOUS SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, LIMB-MAMMARY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SILVER-RUSSELL SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PEELING SKIN SYNDROME 2, FRONTOMETAPHYSEAL DYSPLASIA, AMYOTROPHY, HEREDITARY NEURALGIC, 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, FUCOSIDOSIS, CRANIOLENTICULOSUTURAL DYSPLASIA, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, FRANK-TER HAAR SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, YUNIS-VARON SYNDROME, TOENAIL DYSTROPHY, ISOLATED, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, COLD-INDUCED SWEATING SYNDROME 2, NOONAN SYNDROME 10, CEREBROOCULOFACIOSKELETAL SYNDROME 3, BENT BONE DYSPLASIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MECKEL SYNDROME 10, DOWLING-DEGOS DISEASE 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PHELAN-MCDERMID SYNDROME, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, EPIDERMOLYTIC HYPERKERATOSIS, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, VOHWINKEL SYNDROME WITH ICHTHYOSIS, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY, TEMPLE-BARAITSER SYNDROME, FILS SYNDROME, FLOATING-HARBOR SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MARTSOLF SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, 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, WHIM SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, MOYAMOYA 6 WITH ACHALASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GERODERMA OSTEODYSPLASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCLEROSTEOSIS 2, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, 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, MICROPHTHALMIA WITH LIMB ANOMALIES, CYLINDROMATOSIS, FAMILIAL, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, {PSORIASIS SUSCEPTIBILITY 1}, AL-RAQAD SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GALLOWAY-MOWAT SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IB, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WISKOTT-ALDRICH SYNDROME, NIJMEGEN BREAKAGE SYNDROME, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, COHEN SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, AICARDI-GOUTIERES SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SCLEROSTEOSIS 1, THROMBOCYTOPENIA 5, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MEIER-GORLIN SYNDROME 3, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COFFIN-SIRIS SYNDROME 2, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, PEUTZ-JEGHERS SYNDROME, OLMSTED SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, PAPILLON-LEFEVRE SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DOOR SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, BLEEDING DISORDER, PLATELET-TYPE, 11, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FRONTONASAL DYSPLASIA 1, CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, PACHYONYCHIA CONGENITA 1, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, DIAMOND-BLACKFAN ANEMIA 1, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, HYPOTRICHOSIS 11, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MANITOBA OCULOTRICHOANAL SYNDROME, BRACHYDACTYLY, TYPE A1, D, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, MUIR-TORRE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ACROMICRIC DYSPLASIA, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, STEATOCYSTOMA MULTIPLEX, ?SNEDDON SYNDROME, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, OCCIPITAL HORN SYNDROME, FARBER LIPOGRANULOMATOSIS, OHDO SYNDROME, X-LINKED, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, BRACHYDACTYLY, TYPE B2, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, HYPERLIPOPROTEINEMIA, TYPE 1D, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SECKEL SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, ID, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, FUMARASE DEFICIENCY, EMBERGER SYNDROME, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, DIGEORGE SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 20, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, ROBERTS SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPISODIC PAIN SYNDROME, FAMILIAL, 3, TRANSALDOLASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, ?ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE, GRISCELLI SYNDROME, TYPE 1, 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, MUCKLE-WELLS SYNDROME, LYMPHEDEMA, HEREDITARY, III, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, DESANTO-SHINAWI SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CYCLIC VOMITING SYNDROME; CVS, KABUKI SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, SCALP-EAR-NIPPLE SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PETERS-PLUS SYNDROME, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE, PSORIASIS 14, PUSTULAR, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ADULT SYNDROME, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, TENORIO SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ABLEPHARON-MACROSTOMIA SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, 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, DIGITAL CLUBBING, ISOLATED CONGENITAL, MOWAT-WILSON SYNDROME, KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?IMMUNODEFICIENCY 16, METHEMOGLOBINEMIA, TYPE IV, MUCOLIPIDOSIS III ALPHA/BETA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, PYRUVATE KINASE DEFICIENCY, SECKEL SYNDROME 2, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, AMELOGENESIS IMPERFECTA, TYPE IA, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, BRUCK SYNDROME 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10, ?TRICHOTILLOMANIA, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, FRA12A TYPE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XI, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, TRIGONOCEPHALY 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 2, VAN MALDERGEM SYNDROME 1, CEREBROTENDINOUS XANTHOMATOSIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, PRECOCIOUS PUBERTY, CENTRAL, 2, SCHOPF-SCHULZ-PASSARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, ARTHROGRYPOSIS, DISTAL, TYPE 5D, INFANTILE LIVER FAILURE SYNDROME 2, BJORNSTAD SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HAILEY-HAILEY DISEASE, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, CRIGLER-NAJJAR SYNDROME, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CORNELIA DE LANGE SYNDROME 4, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, C2 DEFICIENCY, CHANARIN-DORFMAN SYNDROME, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ELLIS-VAN CREVELD SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?APLASIA CUTIS CONGENITA, NONSYNDROMIC, RESTRICTIVE DERMOPATHY, LETHAL, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MYHRE SYNDROME, 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, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, IMMUNODEFICIENCY 10, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, PERLMAN SYNDROME, CHILD SYNDROME, SYNDACTYLY, TYPE IV, DARIER DISEASE, SECKEL SYNDROME 9, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, VOHWINKEL SYNDROME, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, CRANIOECTODERMAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME, TYPE IV, GALACTOSE EPIMERASE DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, FOCAL FACIAL DERMAL DYSPLASIA 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PARIETAL FORAMINA 1, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ?HYPOTRICHOSIS AND RECURRENT SKIN VESICLES, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, EHLERS-DANLOS SYNDROME, TYPE VIIC, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?CRANIOECTODERMAL DYSPLASIA 4, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, XERODERMA PIGMENTOSUM, GROUP D, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MISMATCH REPAIR CANCER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLUCOCORTICOID DEFICIENCY 4, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CEREBRAL CAVERNOUS MALFORMATIONS-2, HAMAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, DOWLING-DEGOS DISEASE 4, ACROKERATOSIS VERRUCIFORMIS, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HERMANSKY-PUDLAK SYNDROME 7, MONILETHRIX, ?MONILETHRIX, WHITE SPONGE NEVUS 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, TANGIER DISEASE, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: TCF12, UROD, DCPS, IHH, MSH6, ORC6, CRIPT, PROS1, TSC2, SPINT2, GP1BA, LBR, GNAS, MUTYH, CIITA, COL3A1, FTL, SUOX, KRIT1, POGLUT1, TP63, ADAMTS18, DOCK7, EOGT, ETHE1, SNRPE, ALG3, ASXL1, SCN10A, KDM5C, NSDHL, SLC5A5, NLRP12, POLE, B2M, SLC17A5, PIEZO2, NOG, KIF7, KIF1B, ITGA3, TERT, FH, TBC1D24, PHF8, GNPTAB, HPGD, FREM1, PTCH2, WNK1, ARSE, GFI1B, PMS2, CYB5R3, ANKLE2, RAB7A, CREBBP, GNE, MSX2, MED25, SLC6A19, CDKN1C, EVC, SMARCA2, NF2, F13A1, GJB4, KDM6A, APOA1, B9D2, IFNG, XPC, ISG15, SLC26A2, IDS, SHMT1, C2, GNRHR, GDNF, MTOR, ASAH1, TAF6, ALG11, TBXA2R, PIK3CD, GTF2H5, PTDSS1, PYCR1, CBL, NCSTN, NR1I3, NSUN2, JAK2, GNS, GPC6, SPARC, CYP4F22, SHANK3, AAAS, RHAG, SGSH, GALNT3, MKRN3, FCGR2B, UBN1, GUSB, SMAD9, TNNT2, ALAS2, TRMU, RAG2, ANKRD11, RBBP8, ADAMTSL2, KMT2A, IFT122, TYK2, SMC3, NDUFS7, SEPT9, MLPH, GATA1, TBX1, MAN1B1, BANF1, MEN1, FANCE, PEX26, CTNNB1, IL2RA, NDUFS3, SUFU, LTBP3, BCS1L, SMAD4, CTSK, ETV6, TMCO1, EPHX2, NDUFAF2, MRAP, ITIH4, SPTLC2, IARS2, LEP, LAMA3, PCK1, SOX9, NARS2, TTC7A, GP6, TUBB, BHLHA9, RFXAP, AKT1, RIPK4, TAPBP, DNAH14, LRPPRC, ADAMTS10, HDAC8, ALX3, KRT71, PRKCD, ABCB4, HFE, ARID1B, COX15, RHBDF2, EZH2, UNC119, GLI3, ERCC8, DSG4, SLC19A1, EDAR, HOXA11, HSPA9, ORC1, EFNB1, MBD5, XRCC4, PTPN22, NOD2, ZEB2, COL6A3, GJC2, NLRP1, POLA1, CHST3, PLEC, CUL4B, LAMC2, SLC2A1, FGF23, TGM5, MASP1, ECE1, KRT86, PIGN, ADAM10, PIGL, FAT4, COL5A2, CXCR4, SOS2, MAPRE2, RPL21, AIRE, BMPR1B, DMPK, STAT3, P2RY12, ENG, PDSS1, EBP, HLA-B, SRCAP, SMOC1, ENPP1, MPV17, SPRTN, SCARF2, EDN3, PEX12, ALDOA, CIDEC, PTPRC, CTSC, ESCO2, DMXL2, DNASE1, GMPPA, GPX4, RAB40AL, NLRP5, ERCC6, B4GALT7, RNF113A, CTNS, SOX11, ACVRL1, RSPO4, EGFR, CDSN, ATP7A, COX7B, KRT14, PPP1R15B, ALB, TSC1, PAX8, TAP2, FGF5, NOP10, PEX5, SURF1, CCBE1, PLIN1, UGT1A1, IL36RN, PEX14, SEC23A, GJB6, TREX1, IRX5, TRAIP, TECPR2, NAA10, ACTB, FERMT3, G6PC, PSEN1, DGUOK, SNRPN, SPECC1L, ALPL, B3GLCT, CYLD, TNXB, ZIC1, ECHS1, ITGA2B, BMP2, GJA1, IDUA, HNRNPK, ADGRG6, NDUFS4, ZBTB20, UBE3B, AR, NAGA, ELOVL4, PTRF, NPR2, ANKRD26, TRNT1, MT-CO3, NBN, PCCA, COG6, SLC30A2, CYP11B1, JAG1, MEFV, MITF, ADAR, NRAS, HSD11B1, MVD, IKBKAP, IL2RG, CUL7, KIF1A, TGFBR2, FIG4, SHOC2, PCCB, CHMP1A, TGFB2, SCN11A, ALDOB, MAP2K2, HLA-C, TFAP2A, CYP7B1, LOR, DPAGT1, CARD14, ZIC2, PKLR, HAMP, SLITRK1, ERCC3, DSC3, IL11RA, CHST8, ITGB4, AMACR, PRKACG, UBR1, ABCB11, AFF4, POC1A, SUCLG1, MYO18B, COL17A1, DLX4, KMT2C, CARD9, THSD1, FOXD3, SPRED1, RBM10, DSC2, CDH3, POFUT1, CCDC22, LIPC, KAT6B, ZMPSTE24, RMRP, FGFR3, HPRT1, RBPJ, PPP1R17, FCGR2A, PNPLA1, SF3B4, FANCA, WNT10A, STS, RAB18, BDNF, MAN2B1, EPG5, IL17RA, FANCD2, BRAF, DLX3, BCO1, POMP, MC1R, SRD5A2, PIGA, NCF1, STIM1, PIGV, DPH1, UBE2A, FOLR1, MT-ATP6, MT-TL1, KRT5, RASA1, FLT4, CBS, GHR, KLC2, SLC17A9, RIN2, PEX11B, NFKB2, ALDH3A2, HBG2, TNFAIP3, TGDS, GDF5, HRAS, GLUL, NDN, SMC1A, AP1S3, KL, KANSL1, VDR, FGFR1, FOXP1, NAGLU, AXIN2, FRAS1, FAM111B, ST14, HLA-DQB1, SOX18, DHCR7, LRP2, IL31RA, EXPH5, RNASEH2C, UROS, LMNB2, NIPBL, SLC2A10, PSTPIP1, SLCO1B1, PSMB8, NDUFAF5, FOXRED1, WDR19, PEX1, XYLT2, VPS13B, FREM2, LZTR1, GJB3, MAF, ANTXR1, ITGA6, KIT, MT-ND3, AGPAT2, NDUFV1, POLD1, JUP, DDX41, COG4, COL6A2, ZNF469, ZAP70, CYBB, MTFMT, SLC12A6, PAX3, IRF6, JAGN1, ASCL1, NR5A1, RORC, CLDN1, IGF2, PEPD, LMNA, KMT2D, DTNBP1, MTR, DCAF17, SPTLC1, STAT1, IFT43, PEX7, F8, CACNA1C, RFX5, NOTCH2, PLG, EFEMP2, CERS3, MED12, BLM, LRP4, TRIM37, PIK3R1, THRA, OFD1, PCSK9, PCNA, PGM3, DCLRE1C, AGA, CTLA4, KIF1BP, PEX16, STRA6, WNT4, NECTIN1, PRDM5, ALOXE3, SMAD3, ALDH18A1, ADAM17, FKBP14, EXT2, SKI, C10orf2, ADGRE2, SATB2, SKIV2L, CAST, DCHS1, F2, FSHB, MED13L, TPI1, RAD21, IFIH1, AKT3, FAS, BRCA2, CYP27A1, IKBKG, PEX6, PLCD1, DEAF1, HLCS, ATP6V1B2, KRT25, PMM2, ADAMTS13, MGAT2, CDK5, PPP1R3A, PSAT1, WDR35, BTD, RECQL4, BTK, APOB, CTC1, SOS1, SLC24A5, NEB, MANBA, CYB5A, STK11, CCDC115, FGF3, SNX14, ARSB, BCOR, PNPLA2, MMP1, FANCM, PIK3CA, PTPN11, UGT1A4, LTBP4, ST3GAL5, BMPER, MBTPS2, SERPING1, ECEL1, CPT2, CYP26C1, HK1, ECM1, SLFN14, BAP1, VPS37A, KRT9, NF1, BMS1, EDNRA, FKBP10, GRIP1, MYOM1, ACVR1, SMARCA4, RUNX1, DSP, TWIST2, NDUFAF6, ATP8B1, CDKL5, FAM134B, KCNH1, GPC3, SMARCE1, SLC39A4, PIGT, CLUAP1, CECR1, PARN, KRT85, SLURP1, NCF2, GATA2, MLH1, CHRM3, SDHC, EDA, MOGS, NTRK1, COL1A2, ITGA2, NNT, KRT1, MSMO1, ABCA1, PLOD1, PROC, PLOD3, ORAI1, LMBRD1, DLL4, CRLF1, GNAQ, NFKBIA, ACP5, TALDO1, KRT16, CLEC7A, PFKM, DSE, SGO1, ERCC5, TNFRSF1A, ADAMTS2, PIGC, TBX3, TSHR, MEGF8, SLC7A7, RBP4, GP9, PAPSS2, B3GAT3, PMVK, RPS6KA3, WAS, CLCF1, ALX4, ACD, BSCL2, ICR1, COL7A1, FASLG, DIS3L2, ATL1, SETBP1, DKC1, SMPD1, ALOX12B, NBAS, C15orf41, PDE11A, SDHD, SH2B3, FRMD4A, G6PC3, VEGFC, PAX2, LMX1B, CCM2, KRAS, TBC1D20, MMP21, VHL, COL4A1, LEMD3, LTBP2, ROR2, PPOX, NR3C1, ATL3, CYBA, SAMD9, FZD6, ITPR2, TMEM173, COQ2, PHYH, CASP10, MASTL, FBN1, GUCY1A3, PHGDH, USP9X, HCCS, FECH, KRT74, CDK4, DIP2B, TINF2, PDE4D, NDUFA9, RPS19, H19, ATIC, PTEN, ALMS1, ABCD3, DST, COX10, CHRND, P2RX1, EHMT1, SRD5A3, EDARADD, SERPINC1, ZC4H2, SDHA, SLC40A1, SMARCB1, MTHFR, LHB, KRT17, ASL, FLNB, DPM1, DOCK8, MMP2, HOXC13, PANK2, SLCO1B3, LIPH, AP3B1, COL11A1, XYLT1, ERCC4, STAMBP, KITLG, TBX4, SAMHD1, FOXL2, APOC2, PCNT, RBCK1, ESR1, NDUFA10, C10orf11, GBA, KCTD1, CA12, RAB3GAP1, ABCC9, MSX1, WDR73, LAMTOR2, CLASP1, COL18A1, RIT1, EDNRB, POLG, MTAP, KRT10, SLC39A13, SFTPB, SFTPC, TYRP1, OCLN, HTRA1, NDUFB11, NIPAL4, RSPO1, MPLKIP, ZSWIM6, DHFR, F13B, SMARCAD1, DSG1, FUCA1, NDUFS8, CAV1, CD96, COL1A1, CNBP, CHRNG, MAP3K1, RAG1, GDF6, CKAP2L, TAP1, H6PD, TYR, RAB27A, KIF22, MYO5A, PPARG, TFR2, COL5A1, OCA2, PRKAR1A, LIPN, GAN, TRPS1, KISS1R, ELN, RBM28, SOX10, BLVRA, CDKN2A, KCNN4, RAB3GAP2, PRF1, CASP8, STEAP3, NEU1, TGM1, HAL, BLOC1S6, ERCC2, RNF168, PDGFRB, MEOX1, NDUFA12, VIPAS39, POU1F1, OCRL, HLA-DQA1, KRT13, ATP6V0A2, DDX3X, FGD1, IL10RB, PTCH1, WNT7A, DVL3, APOA2, TAF1, PIGO, SETD5, RBM8A, FGFR2, ABCA12, CCDC170, FLCN, CHRNA1, WRN, CHST14, CDAN1, GP1BB, CPOX, LMNB1, LRP1, COL6A1, AKR1D1, TERC, MID1, SDHB, EVC2, ATP2A2, AGXT, ANTXR2, MECOM, DOCK6, DDX11, ABCC2, NR0B1, C4A, TPM2, ATP2C1, ABHD5, ZIC3, PDGFRA, TGFBR1, SLC35C1, SLC4A1, AP1S1, CD81, NDUFA2, RTEL1, TNFRSF4, KRT6C, SOST, NOTCH3, GLRX5, SART3, PLOD2, ABCA5, WAC, GORAB, KRT83, FERMT1, RFXANK, SEC23B, PSENEN, UVSSA, GDF2, ARHGAP31, VPS33B, RNU4ATAC, NECTIN4, SLX4, PQBP1, IL7R, CSTA, MYH3, WDR81, SLC9A6, LDHA, VWF, NFIX, KCNQ1OT1, MECP2, MVK, LYST, MC2R, TGFB3, NLRC4, APC, LAMB3, SMARCAL1, FOXP3, FGF20, IL1RN, FBN2, KRT81, FBLN5, GALE, WNT5A, BRCA1, DDX58, CFI, SPINK5, LDLR, DOLK, PHOX2B, ABCC6, KANK2, GPIHBP1, TRPV3, MCM4, SLC37A4, MPDU1, B3GALT6, SNAP29, USB1, LPAR6, HGSNAT, PAH, SUMF1, EPOR, LCK, TRPA1, NME1, FLNA, PUS1, NGF, MCM9, GJB2, PEX2, KIAA0196, ZAK, PRNP, TRAF3IP2, ATM, HSPG2, GLB1, BRF1, GRHL2, NSD1, NFKB1, NLRP3, PRDM12, DLX5, INSR, STAP1, LMBR1, NOTCH1, IL10RA, SCN9A, ARID1A, SLCO2A1, CEP57, MSH2, ZNF592, PLCG2, CD3G, UBE3A, LIFR, GLA, SERPINB7, COX4I2, PIEZO1, MT-ND5, RET, ARX, GALNT14, MTRR, TBXAS1, HOXD13, ITGB3, TTC37, RNF125, PRKACA, GNRH1, ABCB6, MYH11, SH3PXD2B, ATR, NHP2, CHKB, HFE2, HSD3B7, HPS1, PORCN, FTO