ABNORMALITY OF THE EAR, HP:0000598

This is a cluster of phenotypes following the categories of HPO


It has 913 associated diseases.

Show diseases

Associated diseases: ARTHROGRYPOSIS, DISTAL, TYPE 5, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, DEAFNESS, AUTOSOMAL DOMINANT 4A, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ?CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME, ?AGAMMAGLOBULINEMIA 5, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, MICROPHTHALMIA, SYNDROMIC 6, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, DEAFNESS, AUTOSOMAL DOMINANT 5, CILIARY DYSKINESIA, PRIMARY, 30, PEROXISOME BIOGENESIS DISORDER 5B, ENDOCRINE-CEREBROOSTEODYSPLASIA, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MULTIPLE SULFATASE DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 11, BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DEAFNESS, AUTOSOMAL DOMINANT 48, OPITZ GBBB SYNDROME, TYPE II, CAMURATI-ENGELMANN DISEASE, SOTOS SYNDROME 1, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ABLEPHARON-MACROSTOMIA SYNDROME, BRACHIOOTIC SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OROFACIODIGITAL SYNDROME VI, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, MANNOSIDOSIS, ALPHA-, TYPES I AND II, DEMENTIA, FAMILIAL DANISH, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, WARSAW BREAKAGE SYNDROME, CATEL-MANZKE SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, CHIME SYNDROME, NATIVE AMERICAN MYOPATHY, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, JOHANSON-BLIZZARD SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, ACHONDROPLASIA, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, DEAFNESS, AUTOSOMAL DOMINANT 40, SECKEL SYNDROME 7, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 31, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MENTAL RETARDATION, X-LINKED 102, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), NEPHROTIC SYNDROME, TYPE 8, KBG SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MELNICK-FRASER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 41, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEBER CONGENITAL AMAUROSIS 1, COWDEN SYNDROME 6, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, FRONTONASAL DYSPLASIA 1, GLUTAMINE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, CARPENTER SYNDROME, HAY-WELLS SYNDROME, LONG QT SYNDROME 1, 3-M SYNDROME 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, PENDRED'S SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 8/12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, KLEEFSTRA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 2B, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), DEAFNESS, AUTOSOMAL RECESSIVE 77, ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CRANIOMETAPHYSEAL DYSPLASIA, HYPER-IGD SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NANCE-HORAN SYNDROME, VAN MALDERGEM SYNDROME 2, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, CHAR SYNDROME, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, WIEDEMANN-STEINER SYNDROME, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, BARBER-SAY SYNDROME, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, DEAFNESS, AUTOSOMAL RECESSIVE 8/10, OGDEN SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CILIARY DYSKINESIA, PRIMARY, 14, ADAMS-OLIVER SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ?SECKEL SYNDROME 4, SPINOCEREBELLAR ATAXIA 6, WRINKLY SKIN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 9, COUSIN SYNDROME, FRAGILE X SYNDROME, COCOON SYNDROME, NORRIE DISEASE, HERMANSKY-PUDLAK SYNDROME 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, NAIL-PATELLA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 16, IMAGE SYNDROME, PEROXISOME BIOGENESIS DISORDER 11B, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 36, SMITH-MAGENIS SYNDROME, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 2, DEAFNESS, X-LINKED 5, KANZAKI DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 6, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, TARP SYNDROME, IVIC SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ?CRANIOECTODERMAL DYSPLASIA 4, DEAFNESS, AUTOSOMAL RECESSIVE 39, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 29, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, ?DEAFNESS, AUTOSOMAL RECESSIVE 66, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, COLD-INDUCED SWEATING SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, BRACHYDACTYLY, TYPE B2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CILIARY DYSKINESIA, PRIMARY, 21, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, WAARDENBURG SYNDROME, TYPE 4B, MEDNIK SYNDROME, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, VAN BUCHEM DISEASE, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 98, HOLOPROSENCEPHALY-7, BLAU SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BORJESON-FORSSMAN-LEHMANN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, ARTHROGRYPOSIS, DISTAL, TYPE 8, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), DEAFNESS, AUTOSOMAL RECESSIVE 25, PERRAULT SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, TRICHOHEPATOENTERIC SYNDROME 1, MUCOLIPIDOSIS II ALPHA/BETA, ?OTOFACIOCERVICAL SYNDROME 2, KABUKI SYNDROME 2, BART-PUMPHREY SYNDROME, DUANE-RADIAL RAY SYNDROME, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SESAME SYNDROME, CARDIOMYOPATHY, DILATED, 1J, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, POLYDACTYLY, PREAXIAL, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, WOODHOUSE-SAKATI SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, DEAFNESS, AUTOSOMAL RECESSIVE 68, DEAFNESS, AUTOSOMAL RECESSIVE 63, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, 3MC SYNDROME 2, DEAFNESS, AUTOSOMAL RECESSIVE 93, ABCD SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DEAFNESS, AUTOSOMAL RECESSIVE 59, ?ABRUZZO-ERICKSON SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, DEAFNESS, AUTOSOMAL DOMINANT 1, VELOCARDIOFACIAL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CK SYNDROME, MARTSOLF SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 79, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, PEROXISOME BIOGENESIS DISORDER 6B, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 28, GELEOPHYSIC DYSPLASIA 1, SADDAN, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, ?FRONTONASAL DYSPLASIA 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, HYPOMAGNESEMIA 6, RENAL, VAN DEN ENDE-GUPTA SYNDROME, USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC, USHER SYNDROME, TYPE 2C, USHER SYNDROME, TYPE 2C, GPR98/PDZD7 DIGENIC, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, DEAFNESS , AUTOSOMAL RECESSIVE 86, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, DEAFNESS, AUTOSOMAL RECESSIVE 28, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SYMPHALANGISM, PROXIMAL, 1A, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, OPTIC ATROPHY PLUS SYNDROME, PALLISTER-HALL SYNDROME, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, DEAFNESS, AUTOSOMAL DOMINANT 56, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, AICARDI-GOUTIERES SYNDROME 4, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, MECKEL SYNDROME 1, JERVELL AND LANGE-NIELSEN SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, LEOPARD SYNDROME 2, BRITTLE CORNEA SYNDROME 2, SPINOCEREBELLAR ATAXIA 31, ?DEAFNESS, AUTOSOMAL DOMINANT 44, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, ?XFE PROGEROID SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, ANDERSEN SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, DEAFNESS, AUTOSOMAL DOMINANT 64, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, ALAGILLE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 101, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, MICROPHTHALMIA, SYNDROMIC 2, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MARSHALL-SMITH SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NEU-LAXOVA SYNDROME 1, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), OSTEOGENESIS IMPERFECTA, TYPE III, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MECKEL SYNDROME 12, ?IMMUNODEFICIENCY 13, CHOPS SYNDROME, BRANCHIOOTIC SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, BLOOM SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, DEAFNESS, AUTOSOMAL RECESSIVE 1B, CILIARY DYSKINESIA, PRIMARY, 26, NEU-LAXOVA SYNDROME 2, ESCOBAR SYNDROME, PIEBALDISM, RESTRICTIVE DERMOPATHY, LETHAL, IMMUNODEFICIENCY 20, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, 3MC SYNDROME 1, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ALLAN-HERNDON-DUDLEY SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, ?HYDROXYKYNURENINURIA, DEAFNESS, AUTOSOMAL DOMINANT 50, NEUROFIBROMATOSIS, TYPE 2, MENTAL RETARDATION, X-LINKED 46, CAPOS SYNDROME, GENITOPATELLAR SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?DEAFNESS, AUTOSOMAL RECESSIVE 88, DEAFNESS, AUTOSOMAL DOMINANT 25, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, PEROXISOME BIOGENESIS DISORDER 7B, BRANCHIOOTORENAL SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, DEAFNESS, AUTOSOMAL RECESSIVE 22, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 13, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, USHER SYNDROME, TYPE 1B, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 23, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, PERLMAN SYNDROME, DIAMOND-BLACKFAN ANEMIA 5, GLASS SYNDROME, STAR SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 2, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME, OROFACIAL CLEFT 7, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, WAARDENBURG SYNDROME, TYPE 4A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 3-M SYNDROME 3, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CHUDLEY-MCCULLOUGH SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, STICKLER SYNDROME, TYPE IV, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WARBURG MICRO SYNDROME 2, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, SC PHOCOMELIA SYNDROME, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, TREACHER COLLINS SYNDROME 1, FRASER SYNDROME, EPISODIC ATAXIA/MYOKYMIA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 74, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), TRICHORHINOPHALANGEAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, SCALP-EAR-NIPPLE SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, PERINATAL LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HARTSFIELD SYNDROME, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, USHER SYNDROME, TYPE 1G, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ALPORT SYNDROME, AUTOSOMAL DOMINANT, COLD-INDUCED SWEATING SYNDROME 2, VOHWINKEL SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, BENT BONE DYSPLASIA SYNDROME, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 18B, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, TERMINAL OSSEOUS DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AGNATHIA-OTOCEPHALY COMPLEX, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, HYDROLETHALUS SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 9B, HYPOPHOSPHATEMIC RICKETS, AR, OHDO SYNDROME, X-LINKED, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, FIBROCHONDROGENESIS 1, BONE MARROW FAILURE SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 42, ?DIAMOND-BLACKFAN ANEMIA 11, AYME-GRIPP SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, DIAMOND-BLACKFAN ANEMIA 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SCLEROSTEOSIS 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MICROPHTHALMIA WITH LIMB ANOMALIES, DEAFNESS, AUTOSOMAL RECESSIVE 3, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GALLOWAY-MOWAT SYNDROME, WOLFRAM SYNDROME 2, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MILLER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, BURN-MCKEOWN SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 67, MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY, DEAFNESS, AUTOSOMAL RECESSIVE 30, INFANTILE NEUROAXONAL DYSTROPHY 1, USHER SYNDROME, TYPE 1F, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 76, DEAFNESS, AUTOSOMAL RECESSIVE 35, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, JOUBERT SYNDROME 14, VICI SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, WISKOTT-ALDRICH SYNDROME, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, JOUBERT SYNDROME 21, USHER SYNDROME, TYPE 2D, ?CHARGE SYNDROME, CHARGE SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 70, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, PROUD SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, IMMUNODEFICIENCY, COMMON VARIABLE, 2, JOUBERT SYNDROME-3, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DEAFNESS, AUTOSOMAL DOMINANT 67, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, PELIZAEUS-MERZBACHER DISEASE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, NEUROFIBROMATOSIS-NOONAN SYNDROME, CANAVAN DISEASE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AGAMMAGLOBULINEMIA 4, PHYTANIC ACID STORAGE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, DEAFNESS, X-LINKED 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, AMINOACYLASE 1 DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 3B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, COWDEN SYNDROME 5, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, BRITTLE CORNEA SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, CORNEAL ENDOTHELIAL DYSTROPHY AND PERCEPTIVE DEAFNESS, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LADD SYNDROME, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, PARAGANGLIOMAS 4, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, WAARDENBURG SYNDROME, TYPE 2D, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CILIARY DYSKINESIA, PRIMARY, 23, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SECKEL SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CILIARY DYSKINESIA, PRIMARY, 28, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, USHER SYNDROME, TYPE IJ, DEAFNESS AND MYOPIA, BRANCHIOOCULOFACIAL SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MANNOSIDOSIS, BETA, ALSTROM SYNDROME, CARPENTER SYNDROME 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 65, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ADENYLOSUCCINASE DEFICIENCY, ?DEAFNESS, AUTOSOMAL DOMINANT 4B, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION, X-LINKED 45, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ROBERTS SYNDROME, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, CARDIOFACIOCUTANEOUS SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, STICKLER SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, DEAFNESS, X-LINKED 4, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, CYCLIC VOMITING SYNDROME; CVS, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, EPISODIC ATAXIA, TYPE 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, PETERS-PLUS SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME 2, PITT-HOPKINS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP B, BARDET-BIEDL SYNDROME 16, DEAFNESS, AUTOSOMAL RECESSIVE 23, DEAFNESS, AUTOSOMAL RECESSIVE 7, SMITH-LEMLI-OPITZ SYNDROME, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, XIA-GIBBS SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, DEAFNESS, AUTOSOMAL RECESSIVE 49, USHER SYNDROME, TYPE 1C, 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, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ROIFMAN SYNDROME, PERRAULT SYNDROME 3, MEIER-GORLIN SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, DEAFNESS, AUTOSOMAL DOMINANT 15, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CATSHL SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, AURAL ATRESIA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JOUBERT SYNDROME 2, ALKAPTONURIA, GALACTOSE EPIMERASE DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 36, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CILIARY DYSKINESIA, PRIMARY, 15, MUCOPOLYSACCHARIDOSIS IVA, KLIPPEL-FEIL SYNDROME 2, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), KEUTEL SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DEAFNESS, AUTOSOMAL RECESSIVE 21, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 10, SPLIT-HAND/FOOT MALFORMATION 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, CILIARY DYSKINESIA, PRIMARY, 20, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), WAARDENBURG SYNDROME, TYPE 2A, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, WIEACKER-WOLFF SYNDROME, ?DEAFNESS, X-LINKED 6, SHPRINTZEN-GOLDBERG SYNDROME, HOLOPROSENCEPHALY-9, OROFACIODIGITAL SYNDROME IV, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, STICKLER SYNDROME, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 3A, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, QUESTION MARK EARS, ISOLATED, CHANARIN-DORFMAN SYNDROME, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, RAINE SYNDROME, L-2-HYDROXYGLUTARIC ACIDURIA, MENTAL RETARDATION, X-LINKED 21/34, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, ?MICROPHTHALMIA, SYNDROMIC 1, TEMTAMY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CILIARY DYSKINESIA, PRIMARY, 27, LATHOSTEROLOSIS, CHILD SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, PCWH SYNDROME, POIKILODERMA WITH NEUTROPENIA, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CILIARY DYSKINESIA, PRIMARY, 10, AGAMMAGLOBULINEMIA 6, CEREBROOCULOFACIOSKELETAL SYNDROME 2, DEAFNESS, AUTOSOMAL RECESSIVE 15, DEAFNESS, AUTOSOMAL RECESSIVE 48, FG SYNDROME 2, RENPENNING SYNDROME, CILIARY DYSKINESIA, PRIMARY, 18, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, RITSCHER-SCHINZEL SYNDROME 1, MEIER-GORLIN SYNDROME 2, NOONAN SYNDROME 3, USHER SYNDROME, TYPE 3A, WILSON-TURNER SYNDROME, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 6, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CILIARY DYSKINESIA, PRIMARY, 16, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 84A, C SYNDROME, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, DEAFNESS, AUTOSOMAL RECESSIVE 84B, CRANIOSYNOSTOSIS 6, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, TIETZ ALBINISM-DEAFNESS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 18A, ?DEAFNESS, AUTOSOMAL RECESSIVE 104, NOONAN SYNDROME 8, CILIARY DYSKINESIA, PRIMARY, 22, HAMAMY SYNDROME, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ASPARAGINE SYNTHETASE DEFICIENCY, ?MENTAL RETARDATION, X-LINKED 101, CODAS SYNDROME, KABUKI SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 2, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, 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



It has 910 associated genes.

Show genes

Associated genes: CALM1, EZH2, TMEM216, FGFR1, WDR73, TCTN3, DCHS1, SPTLC1, SERPINB6, CD3E, CC2D2A, TBX22, GNAS, WNT5A, VSX1, COL3A1, ATP6V1B1, GUSB, TP63, ADAMTS18, DOCK7, SDHA, ALG3, SLC26A2, PCYT1A, SOST, CDC6, CD3D, GLYCTK, TMEM237, PIEZO2, TBCE, NOG, KIF7, ITGA3, SLC6A8, TBC1D24, BEAN1, SHOC2, DOK7, APOPT1, ARSE, POR, DNAI2, SALL1, CREBBP, PTPRQ, HGD, MYO18B, KMT2C, CLRN1, TECTA, MBD5, EVC, NF2, TRPV4, SOX2, KDM6A, CEP120, NDUFAF3, LBR, DLX5, COL6A2, LONP1, SLC39A8, CD79A, IGBP1, CHAMP1, TNNI2, GLI2, CCDC151, BBS9, CAMTA1, ADCY1, MT-ND6, MGAT2, OPHN1, PEX6, AMER1, MEGF8, AIFM1, CBL, SMARCE1, CCND1, TALDO1, JAK2, TPM2, RNASEH2A, SUCLA2, AP1S2, VPS33B, SGSH, BMP1, MKKS, GLI3, ACAN, ROR2, HYDIN, LOXHD1, DDX3X, NDUFA1, KRAS, TNNT2, TRMU, ANKRD11, COL4A3BP, ADAMTSL2, KMT2A, DUSP6, MYO15A, NDUFA10, TNC, SEPT9, MT-CO1, GATA1, ISPD, SYT2, FANCE, MT-TE, EDC3, NDUFS3, LHFPL5, SMAD4, BCS1L, CD151, DVL3, CHST14, TMCO1, GDNF, CEP290, INSR, NDUFAF2, IGHM, HDAC6, LRP5, SH3TC2, STAC3, CTSD, SOX9, PQBP1, IL1RAPL1, CISD2, TUBB, TCTN1, RSPH4A, MYO7A, FCGR3A, MMACHC, RIPK4, TAPBP, BLNK, SLC19A2, FOXI1, STAMBP, DIAPH1, SLC6A17, ARID1B, COX15, BBS7, HGF, UNC119, TWIST1, KIF11, NSDHL, RNU4ATAC, DNAH1, PEX13, MT-TH, HOXA11, OBSL1, ORC1, GNE, FAR1, XRCC4, XPC, ETFB, NOD2, TRIOBP, AHDC1, COL6A3, TTC19, ADK, EYA1, POLA1, CHST3, PIGN, PEX26, MOGS, TNFRSF11A, MASP1, ECE1, HNRNPK, DIABLO, PIGA, PIGL, FAT4, PCDH15, PEX12, GMPPA, DNAAF1, SPRY4, TSR2, MT-CO2, GPSM2, RBMX, COL5A2, HMGB3, TPK1, BRWD3, SCARF2, DNAAF2, MT-TF, DCDC2, BBS1, COL4A3, PTRH2, PAK3, MAPRE2, ZMPSTE24, RAB40AL, CLCNKB, SNRPB, ERCC6, B4GALT7, SOX11, POMK, FANCL, CDK5RAP2, AP3B1, DHCR24, COX7B, DST, FGF10, EXOC8, ARSB, TAP2, MT-TS2, PRDM5, PEX5, NDUFS2, CCBE1, GNPTAB, GJB6, IRX5, QARS, LRRC6, MAP2K2, MKS1, SPATA5, SBF2, MID2, RAI1, CHCHD10, SPECC1L, B3GLCT, COL11A2, CCDC65, PTDSS1, TTC8, HARS2, ECHS1, ACY1, IL7R, IDUA, ADGRG6, SMOC1, ZBTB20, KCNA1, LRBA, ASPM, COL4A5, USB1, PEX11B, MT-ATP6, PGAP1, SDHB, SPAG1, CDT1, NBN, TFAP2B, GALNS, S1PR2, DNAI1, BBS2, ARHGDIA, MITF, USH1C, INPP5E, DIAPH3, ESCO2, CD79B, IL2RG, PXDN, SF3B4, COX8A, FIG4, FGFR2, DCPS, RRM2B, TNNT3, NDE1, HOXB1, SLC26A4, CLCNKA, XPA, FAM58A, DFNB59, MYCN, ERCC3, COCH, TTC37, SRP72, PLOD3, MEF2C, CHUK, UBR1, AFF4, POC1A, DMXL2, EXOSC8, KCNE1, GK, SPINT2, SPRED1, RBM10, MRPS16, COL4A6, NRAS, GJC2, KAT6B, GPX4, TCIRG1, CDH23, FGFR3, HARS, COL5A1, CACNA1A, ETFDH, AP4E1, L2HGDH, WDPCP, TAZ, FANCA, CRYM, GIPC3, RAB18, VIPAS39, SIX5, BDNF, EPG5, NUBPL, BRAF, SLC26A5, KAT6A, NIN, MED12, KCNJ5, BBS12, EYA4, HSD17B10, NDUFB3, DNAH8, NDRG1, MT-TL1, COL4A4, GNS, SLC29A3, SC5D, GMPPB, TMIE, NDUFS4, NFKB2, SH3PXD2B, ANKH, TMEM70, SLC52A2, TGDS, HRAS, OTOA, SMC1A, PLEC, TXNL4A, ASCL1, NAGLU, FRAS1, EPS8, SLC16A2, LRP2, CLIC2, SKI, TCTN2, CCDC8, BSND, NIPBL, DFNA5, ATP2B2, PSMB8, FOXRED1, NF1, SLC4A11, FARS2, KCNH1, MAF, ANTXR1, ACP5, ESRRB, KANSL1, TUBB4A, KIT, MT-ND3, OTOGL, CENPJ, CLCF1, PEX1, SH2B3, ZNF469, CHRNE, C21orf59, MTFMT, SLC12A6, PAX3, ACTG1, ZC4H2, RFT1, TGFB1, MRPS22, HYLS1, KMT2D, DVL1, USH2A, CCDC103, IDS, PCLO, PEX7, ZBTB24, SCO1, RECQL4, PLG, ETFA, BLM, DNMT1, SERAC1, MT-TQ, PIK3R1, PEX10, OFD1, COLEC11, STRC, ATP1A3, POLR1C, DCLRE1C, OTOF, ORC4, KIF1BP, FAM65B, GRXCR1, PEX16, ASPA, STRA6, TYMP, MGP, EPOR, ALDH18A1, HSPG2, BUB1B, NLRP3, SURF1, C10orf2, POU4F3, SATB2, ATIC, LMNA, MYH14, KCNJ10, ADSL, GAA, ATRX, DNAAF3, CABP2, CTSA, EFTUD2, RSPH3, RPS26, ATP6V1B2, XPNPEP3, PMM2, EIF4A3, GNAI3, ATP6V0A4, KYNU, FLRT3, MT-TS1, ESPN, DNAH5, ALG11, RPGRIP1L, BTK, POLR1A, ZEB2, SOS1, MANBA, MYO3A, FMR1, SALL4, ITCH, BCOR, LMBRD1, PNPLA2, FGF3, CLDN14, FANCM, PIK3CA, PTPN11, ABCD1, ST3GAL5, BMPER, JAG1, DIS3L2, TNFRSF11B, NAA10, CCDC40, GATA3, COL2A1, ACOX1, TSPEAR, MUSK, FANCD2, TCOF1, EDNRA, ACTB, GRIP1, FREM2, SYNE4, TWIST2, CCDC39, NDUFAF6, DCAF17, GJB3, ARMC4, LRRC8A, KDM5C, IGF2, SEMA3E, NOTCH2, PTF1A, KCNJ1, POU3F4, SHANK3, ATP1A2, ASXL1, COL1A2, POGZ, ICOS, NDUFAF4, PNPT1, CRLF1, PDZD7, KARS, EBP, PNPLA8, SNX14, IMPAD1, ICK, EEF1A2, DSE, COG1, ERCC5, DHODH, FKBP14, LRTOMT, NDUFA9, GSC, XYLT2, COX14, RPS6KA3, WAS, ERCC8, NDUFV1, TBX1, INS, PAM16, ICR1, GBA2, FAM20C, TYR, KIF14, WHRN, ZIC1, SDHD, G6PC3, SDCCAG8, LMX1B, SLITRK6, VHL, BBS4, GUCY2D, ACVR1, RAPSN, ARL6, RDX, BRCA1, TMEM165, CNNM2, TTI2, SMS, KIAA0586, PDK3, ZDHHC9, RUNX2, PHGDH, GJB2, SCN1A, WDR35, POLD1, EDN1, DNAAF5, H19, PTEN, ALMS1, LARS2, LZTFL1, FANCB, TK2, CHRND, EHMT1, ATPAF2, SRD5A3, AHI1, LRP4, BBS5, JAGN1, CCNO, SUCLG1, KCNQ1, FBXL4, HDAC8, PRICKLE2, ZAK, ATP8B1, MT-ND4, WNT3, B3GAT3, ALX1, GFER, MYH9, TAF6, COL11A1, ERCC4, UPK3A, C12orf57, POMT1, TCF4, HOXA1, PCNT, RNASET2, CEACAM16, ABHD12, SLC33A1, CLIC5, TIMM8A, WDR19, GBA, KCTD1, FASTKD2, IL17RD, MARS2, DRC1, RPL26, PIGV, ILDR1, RIT1, PTH1R, ABCC8, EDNRB, POLG, BTD, NDUFS6, NDUFAF5, OCLN, SMPX, MPLKIP, TINF2, FLNB, PTPRF, CASK, PDGFB, SRCAP, FUCA1, NDUFS8, CD96, BBIP1, CALM2, COL1A1, CHRNG, SLC52A3, RAG1, NDUFA11, GDF6, ERCC1, MT-CO3, BCAP31, TAP1, TSHZ1, SETBP1, MBTPS2, CCDC50, SMCHD1, DSPP, MCIDAS, PRKAR1A, PHYH, ELAC2, PAX1, SOX10, NR1I3, MARVELD2, OTOG, MAN2B1, MT-TK, PRPS1, COX6B1, RAB3GAP2, EFEMP2, CLASP1, RAF1, NEU1, PLA2G6, COX20, ITGA8, NALCN, BMP4, ERCC2, SNAI2, COL13A1, PDGFRB, MEOX1, NDUFA12, WFS1, CPT2, MYO1A, PMP22, NDUFB9, ABHD5, DNMT3B, ATP6V0A2, TNFRSF13B, FGD1, PTCH1, WNT7A, ASNS, RSPH1, CIB2, NLRP12, RPGR, TMPRSS3, RAB3GAP1, GRXCR2, NHS, HYAL1, GLUL, PLP1, COL6A1, DNAL1, CACNA1D, SQSTM1, PRRX1, COQ6, EVC2, PAX2, LHX3, MECOM, DOCK6, DDX11, CCDC114, ITM2B, PYCR1, CCDC28B, MT-TD, FOXC1, NDUFA2, FANCC, MPZ, SLC35C1, ORC6, AP1S1, THRB, ARHGEF6, MYO6, NDP, IARS2, NOTCH3, IGF1, MFN2, OPA1, PROKR2, TRIM32, ELMOD3, ZMYND10, COL9A1, PTPRC, NDUFS7, TMC1, LARS, TTR, RET, KCNJ11, NARS2, GJA1, OSBPL2, TTC21B, MYH3, SLC9A6, RPS28, ZIC2, NFIX, KCNQ1OT1, MECP2, MVK, CSPP1, CHD7, P2RX2, KCNJ2, GCK, CHRNA1, NDUFAF1, BBS10, CLPP, SIX1, FBN2, MMP2, GALE, PRKDC, NDUFS1, TRNT1, RMND1, CFI, C5orf42, TMEM67, PHOX2B, SLC25A4, ZBTB18, FOXL2, CHSY1, AKT1, PSAT1, CDKN1C, USH1G, MSRB3, RAG2, TBX15, TFAP2A, NECTIN1, SNAP29, HGSNAT, GJB1, SUMF1, MIR96, EDN3, ABCC11, GLE1, GPC3, SLC17A8, FLNA, RAB23, COQ2, HCCS, PEX2, HSD17B4, DHCR7, PHF6, RPL35A, GLB1, BRF1, NSD1, NEB, GRHL2, CD19, GALC, TRPS1, KIAA0196, NDUFV2, CEP57, ALX3, ZNF592, PACS1, LIFR, HOXA2, DMP1, RSPRY1, MT-ND5, TACO1, SLX4, ARX, PNP, KCNQ4, ADGRV1, ACO2, PGM3, NAGA, DNAJC3, TPRN, MT-ND1, ATR, ZNF81, PLCB4, PLEKHG4, COX10, PORCN, PET100, FTO



GO terms for Biological Process
--> -->
 
 
<type 'exceptions.TypeError'>
Python 2.7.9: /usr/bin/python
Mon Jun 8 16:47:38 2020

A problem occurred in a Python script. Here is the sequence of function calls leading up to the error, in the order they occurred.

 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in ()
    307         print '<p> This is a cluster of phenotypes following the categories of HPO </p>'
    308         initial_description(cla,HPOid2mim,HPOid2gene)
=>  309         myGO_BP,myGO_MF,myGO_CC=main_program(cla,name,HPOid2gene[cla],HPOid2mim[cla],True)
    310         create_metadata(cla,name,HPOid2gene[cla],HPOid2mim[cla],myGO_BP,myGO_MF,myGO_CC)
    311     elif cla=="HP:0000001":
myGO_BP = set([]), myGO_MF = set([]), myGO_CC = set([]), main_program = <function main_program>, cla = 'HP:0000598', name = 'ABNORMALITY_OF_THE_EAR', HPOid2gene = {'HP:0000001': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000002': set(['AAAS', 'AARS', 'AASS', 'ABAT', 'ABCB11', 'ACAN', ...]), 'HP:0000003': set(['AMER1', 'B9D1', 'KAT6B', 'MBTPS2', 'OFD1', 'PAX2', ...]), 'HP:0000005': set(['A2M', 'A4GALT', 'AAAS', 'AAGAB', 'AARS', 'AARS2', ...]), 'HP:0000006': set(['A2M', 'A4GALT', 'AAGAB', 'AARS', 'ABCA1', 'ABCA4', ...]), 'HP:0000007': set(['AAAS', 'AARS', 'AARS2', 'AASS', 'ABAT', 'ABCA1', ...]), 'HP:0000008': set(['AARS2', 'AGPAT2', 'AIP', 'AIRE', 'AKT1', 'APC', ...]), 'HP:0000009': set(['ABCD1', 'ACTG2', 'ADH1C', 'AFF4', 'ALDH18A1', 'ALS2', ...]), 'HP:0000010': set(['BTK', 'CFI', 'CIITA', 'CLDN16', 'CLDN19', 'FLVCR1', ...]), 'HP:0000011': set(['ARNT2', 'GBE1', 'GJA1', 'MNX1', 'VANGL1', 'WFS1']), ...}, HPOid2mim = {'HP:0000001': set(['100070', '100100', '100300', '100800', '101000', '101200', ...]), 'HP:0000002': set(['100800', '101400', '101800', '102370', '102500', '103580', ...]), 'HP:0000003': set(['107480', '120330', '143400', '300209', '300373', '308205', ...]), 'HP:0000005': set(['100100', '100300', '100800', '101000', '101200', '101400', ...]), 'HP:0000006': set(['100300', '100800', '101000', '101200', '101400', '101600', ...]), 'HP:0000007': set(['100100', '100300', '102530', '102700', '103050', '105400', ...]), 'HP:0000008': set(['101200', '107480', '109400', '110100', '114500', '119500', ...]), 'HP:0000009': set(['105210', '107480', '109150', '113650', '118450', '120330', ...]), 'HP:0000010': set(['176450', '209920', '220100', '236730', '248190', '248250', ...]), 'HP:0000011': set(['164200', '176450', '222300', '263570', '600145', '615926']), ...}, builtin True = True
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in main_program(cla='HP:0000598', name='ABNORMALITY_OF_THE_EAR', gene_set=set(['ABCC11', 'ABCC8', 'ABCD1', 'ABHD12', 'ABHD5', 'ACAN', ...]), mim_set=set(['100800', '101000', '101200', '101400', '101800', '102500', ...]), HPO=True)
    190         else:
    191             myresult=main_table_printer(cla,name,"allclass2BP_NETGE",gene_set,"GOBP",mim_set,gene2mim_mapped,gene2chrom,root_GOBP_set)
=>  192             summary_shared_other_pages("GO terms for Biological Process",myresult,cla,"GOBP",name)
    193             myresult=main_table_printer(cla,name,"allclass2MF_NETGE",gene_set,"GOMF",mim_set,gene2mim_mapped,gene2chrom,root_GOMF_set)
    194             summary_shared_other_pages("GO terms for Molecular Function",myresult,cla,"GOMF",name)
global summary_shared_other_pages = <function summary_shared_other_pages>, myresult = ('<table id=allclass2BP_NETGE class="display"> <th...PIK3R1">PIK3R1</a></p></td></tr></tbody> </table>', set(['GO:0000122', 'GO:0000165', 'GO:0000187', 'GO:0000226', 'GO:0000578', 'GO:0000902', ...])), cla = 'HP:0000598', name = 'ABNORMALITY_OF_THE_EAR'
 /usr/lib/cgi-bin/phenpath/class_page_mkstatic.py in summary_shared_other_pages(titlename='GO terms for Biological Process', content=('<table id=allclass2BP_NETGE class="display"> <th...PIK3R1">PIK3R1</a></p></td></tr></tbody> </table>', set(['GO:0000122', 'GO:0000165', 'GO:0000187', 'GO:0000226', 'GO:0000578', 'GO:0000902', ...])), phen='HP:0000598', onto_name='GOBP', cla_name='ABNORMALITY_OF_THE_EAR')
    110         myfile.write("<h1>"+ " ".join(cla_name.split("_")) +"</h1>")             
    111 
=>  112         myfile.write(content)   
    113         myfile.write('</body><footer><p>Contact information: giulia.babbi3@unibo.it <a style="float:right"> <!-- Release 12-05-2017 --> </a></p></footer></html>')
    114 
myfile = <open file '/var/www/phenpath/class_static/HP:0000598_GOBP_static.html', mode 'w'>, myfile.write = <built-in method write of file object>, content = ('<table id=allclass2BP_NETGE class="display"> <th...PIK3R1">PIK3R1</a></p></td></tr></tbody> </table>', set(['GO:0000122', 'GO:0000165', 'GO:0000187', 'GO:0000226', 'GO:0000578', 'GO:0000902', ...]))

<type 'exceptions.TypeError'>: expected a character buffer object
      args = ('expected a character buffer object',)
      message = 'expected a character buffer object'