ABNORMALITY OF CONNECTIVE TISSUE, HP:0003549

This is a cluster of phenotypes following the categories of HPO


It has 594 associated diseases.

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Associated diseases: PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, AMELOGENESIS IMPERFECTA, TYPE III, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, MICROPHTHALMIA, SYNDROMIC 6, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ARTHROGRYPOSIS, DISTAL, TYPE 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, AMELOGENESIS IMPERFECTA, TYPE IIA2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AMELOGENESIS IMPERFECTA, TYPE IA, AMELOGENESIS IMPERFECTA, TYPE 1E, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NEMALINE MYOPATHY 10, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, VELOCARDIOFACIAL SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), MANDIBULOACRAL DYSPLASIA, CATSHL SYNDROME, RUIJS-AALFS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, MUCOPOLYSACCHARIDOSIS TYPE IIID, COWDEN SYNDROME 6, FRONTONASAL DYSPLASIA 1, GLUTAMINE DEFICIENCY, CONGENITAL, CARPENTER SYNDROME, ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, NESTOR-GUILLERMO PROGERIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MECKEL SYNDROME 12, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, OGDEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, COUSIN SYNDROME, COCOON SYNDROME, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CHERUBISM, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MARSHALL-SMITH SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LATERAL MENINGOCELE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, EHLERS-DANLOS SYNDROME, TYPE VI, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CAUDAL REGRESSION SYNDROME, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, ROIFMAN SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IH, DYGGVE-MELCHIOR-CLAUSEN DISEASE, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3, SHAHEEN SYNDROME, CONE-ROD DYSTROPHY, X-LINKED, 1, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, AMELOGENESIS IMPERFECTA, TYPE IIA1, AMELOGENESIS IMPERFECTA, TYPE IF, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ARTHROGRYPOSIS, DISTAL, TYPE 1B, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, BETHLEM MYOPATHY 2, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MELNICK-NEEDLES SYNDROME, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, BLAU SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MEIER-GORLIN SYNDROME 1, ARTERIAL TORTUOSITY SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, NEMALINE MYOPATHY 5, AMISH TYPE, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DIAPHRAGMATIC HERNIA 3, AMELOGENESIS IMPERFECTA, TYPE IB, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SHPRINTZEN-GOLDBERG SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, RAINE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTHROGRYPOSIS, DISTAL, TYPE 8, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, ACHONDROGENESIS IB, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, NATIVE AMERICAN MYOPATHY, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, HEIMLER SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, MECKEL SYNDROME 1, ?ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIGEORGE SYNDROME, ACNE INVERSA, FAMILIAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, KOHLSCHUTTER-TONZ SYNDROME, BRITTLE CORNEA SYNDROME 2, GM1-GANGLIOSIDOSIS, TYPE I, ?XFE PROGEROID SYNDROME, CHIME SYNDROME, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ANDERSEN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?IMMUNODEFICIENCY 22, BECKWITH-WIEDEMANN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, AMELOGENESIS IMPERFECTA, TYPE IIA4, FIBROCHONDROGENESIS 1, AMELOGENESIS IMPERFECTA, TYPE IIA5, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 5, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYALINE FIBROMATOSIS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, MYOPATHY, MYOFIBRILLAR, 3, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ADAMS-OLIVER SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, ALLAN-HERNDON-DUDLEY SYNDROME, GREENBERG SKELETAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE V, HYPEREKPLEXIA HEREDITARY, CHONDRODYSPLASIA, GREBE TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, SJOGREN-LARSSON SYNDROME, CHONDROCALCINOSIS 2, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, GLASS SYNDROME, WILSON DISEASE, BRUCK SYNDROME 1, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, COCKAYNE SYNDROME, TYPE B, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), TERMINAL OSSEOUS DYSPLASIA, CONGENITAL DIAPHRAGMATIC HERNIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, FUCOSIDOSIS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GAUCHER DISEASE, PERINATAL LETHAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, SECKEL SYNDROME 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PHELAN-MCDERMID SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, HYDROLETHALUS SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, LIMB-MAMMARY SYNDROME, STIFF SKIN SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, BETHLEM MYOPATHY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, DIAMOND-BLACKFAN ANEMIA 10, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MICROPHTHALMIA WITH LIMB ANOMALIES, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CRANIOECTODERMAL DYSPLASIA 1, COLD-INDUCED SWEATING SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CEREBROOCULOFACIOSKELETAL SYNDROME 2, VITAMIN D-DEPENDENT RICKETS, TYPE I, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, IMMUNODEFICIENCY 14, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OLMSTED SYNDROME, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, ANALBUMINEMIA, AMELOGENESIS IMPERFECTA, TYPE IC, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, PROUD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, CORNELIA DE LANGE SYNDROME 1, HOLOPROSENCEPHALY-7, GERODERMA OSTEODYSPLASTICUM, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MANITOBA OCULOTRICHOANAL SYNDROME, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, COWDEN SYNDROME 5, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, BRITTLE CORNEA SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LADD SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRACHYDACTYLY, TYPE B1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, NEMALINE MYOPATHY 9, RITSCHER-SCHINZEL SYNDROME 2, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, GALLOWAY-MOWAT SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HUTCHINSON-GILFORD PROGERIA, MYOPATHY, TUBULAR AGGREGATE, 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, PETERS-PLUS SYNDROME, TRIGONOCEPHALY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DIAPHANOSPONDYLODYSOSTOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, LOWE SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, JALILI SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, BIRT-HOGG-DUBE SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, LIEBENBERG SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, LUJAN-FRYNS SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, BRUCK SYNDROME 2, GENITOPATELLAR SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, AMELOGENESIS IMPERFECTA, TYPE IIA3, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYXOID LIPOSARCOMA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE XI, TUBEROUS SCLEROSIS 2, SYNDACTYLY, TYPE V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, WAARDENBURG SYNDROME, TYPE 3, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, WIEACKER-WOLFF SYNDROME, CARNEY COMPLEX VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, INFANTILE MYOFIBROMATOSIS 1, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, TROYER SYNDROME, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, DENTAL ANOMALIES AND SHORT STATURE, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHEDEMA, HEREDITARY, IC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, SPASTIC PARAPLEGIA 2, X-LINKED, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, PERLMAN SYNDROME, CHILD SYNDROME, PARASTREMMATIC DWARFISM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, BARTTER SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, CRANIOECTODERMAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, DENTIN DYSPLASIA, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AMELOGENESIS IMPERFECTA, TYPE IV, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ANDROGEN INSENSITIVITY, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), LARYNGOONYCHOCUTANEOUS SYNDROME, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MAST CELL DISEASE, PANCREATIC AND CEREBELLAR AGENESIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, CODAS SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, DENT DISEASE 2



It has 554 associated genes.

Show genes

Associated genes: TSC2, FGFR1, WDR73, PHGDH, FUZ, ACADS, LBR, GNAS, COL3A1, GUSB, EOGT, SDHA, TTC7A, UBA1, NSDHL, SLC5A5, NECTIN4, PIEZO2, TCTN3, KIF7, ESCO2, DPM2, FH, GNPTAB, FREM1, AMBN, ENAM, TGFBR2, ANKLE2, SALL1, CREBBP, GNE, P3H1, KLK4, TRPV3, MYOT, FGFR3, KL, ERBB3, NALCN, AR, SLC26A2, IDS, THRA, DAG1, KLHL40, TAF6, TNXB, PIK3CD, AMER1, MEGF8, AIFM1, NCSTN, KCNJ1, TNNT1, AP1S2, VPS33B, GALNT3, HSPD1, ROR2, SLC24A4, ABCD4, GAD1, TNNT2, TP63, IFT122, DNMT3A, ANKH, PMM2, SLC12A1, BANF1, TGFBR1, DDR2, SERPINC1, LTBP3, DVL3, CHST14, MMP20, TPM2, IARS2, LAMA3, PQBP1, VMA21, CHRNA1, FLVCR1, AKT1, PI4KA, PPIB, ALX3, ARID1B, LIPE, EZH2, GLI3, ORC1, EFNB1, PEX5, XRCC4, CHMP1A, NOD2, MTM1, GJC2, SMOC2, POLA1, CHST3, PIGA, ZFPM2, RAB18, MASP1, IGHMBP2, SEPN1, LAMC2, LAMA2, PIGL, COL5A2, TSR2, SCRIB, HLA-B, SRCAP, SMOC1, SPRTN, ALG1, FKTN, CIDEC, FKRP, WISP3, ZMPSTE24, RAB40AL, VIPAS39, ERCC6, B4GALT7, CHAT, BRAT1, POMK, LRP2, DHCR24, TCAP, KRT14, ALB, FGF10, TSC1, PRDM5, SKI, CCBE1, DNM2, CYBA, IRX5, MMP1, MKS1, MFN2, SEMA3E, COL1A2, B3GLCT, COL11A2, PTDSS1, BMP1, IDUA, ADGRG6, COL6A1, ZBTB20, WT1, CDK5RAP2, BAG3, GDF5, DES, TGFBI, GALNS, POR, EMD, FAM83H, CAPN3, KIF1A, OCRL, FIG4, FGFR2, TNNT3, NDE1, TFAP2A, MTMR14, GORAB, ALS2, NOTCH1, WDR19, C4orf26, CBS, ZEB1, PITX1, CHUK, SNIP1, EXOSC8, KIF5C, CRYAB, SPRED1, PTH1R, CDH3, CCDC22, KAT6B, MEN1, STAC3, SPECC1L, AP4E1, ALG3, FGF23, GPHN, SNAP25, LAMB3, NCF1, STIM1, GLRA1, ALPL, SLC2A2, KCNJ5, KRT5, DARS2, GNS, SLC29A3, CYP27B1, KLC2, GMPPB, ALDH3A2, TMEM70, TGDS, TNFRSF11B, PLEC, PLP1, VDR, DVL1, HLA-DQB1, CELSR1, NCF2, ELN, CLIC2, FBN2, LMNB2, PSMB8, MYH2, NT5C2, KCNH1, MAF, ANTXR1, ITGA6, KIT, AIRE, DDIT3, PEX1, COL6A2, ZNF469, CHRNE, CYBB, AIMP1, SLC12A6, PAX3, GTF2H5, ZC4H2, B3GAT3, CLDN1, HYLS1, GATA6, PEX7, COL6A3, NIPBL, OFD1, PCNA, SOX18, AGA, SDHAF1, APC, FLNB, IFITM5, SLC16A2, STRA6, SMAD3, ALDH18A1, HSPG2, C19orf12, PYCR1, ROGDI, SATB2, LMNA, PHEX, CEP120, LARGE1, ATRX, IKBKG, AP2S1, RPS26, ATP6V1B2, VPS53, KCNJ6, CDK5, PPP1R3A, VANGL2, WDR35, ERCC8, KMT2A, ECE1, PRG4, SNX14, ITCH, BCOR, SEPSECS, PLEKHG5, PIK3CA, LTBP4, BMPER, MBTPS2, ECEL1, NAA10, GRID2, COL2A1, MUSK, RARB, ACTA1, VRK1, FKBP10, RIN2, GBE1, TWIST2, SLC2A10, SMARCE1, NOTCH2, PTF1A, GATA2, SH3BP2, MET, NTRK1, SCARF2, PLOD1, PLOD3, ORAI1, CRLF1, CNNM4, MYBPC1, SLC25A46, DSE, ERCC5, GJB1, FKBP14, DYM, TSHB, GSC, SPEG, RPS6KA3, TBX1, INS, ABCC8, PIK3R2, BSCL2, ICR1, COL7A1, FAM20C, ITGB4, GLB1, KIF14, AMHR2, KIAA0586, SDHD, SLC25A19, ZNF335, CNTN1, GNA11, SLC9A6, RAPSN, LEMD3, LTBP2, CCL2, TUBB3, ADAMTS2, FHL1, RAB23, FBN1, ZDHHC9, GJB2, T, POLD1, ZBTB42, ALG14, TTN, AP4S1, H19, PTEN, TRPV4, DST, CHRND, SRD5A3, LIAS, ASXL1, COL12A1, MYH7, DPM1, FAT4, PTRF, ATP7A, COL11A1, TGFB1, ERCC4, DMD, ADAMTSL2, POMT1, PCNT, ABHD12, PPT1, GBA, SGCG, ABCC9, PIP5K1C, DOK7, SLC35A3, PLOD2, AUTS2, TMEM165, HRAS, TSEN54, GPC6, AGPAT2, MPLKIP, SLC12A3, KIF1BP, ALG13, ARSB, FUCA1, CAV1, CD96, DIS3L2, COL1A1, CHRNG, GRHL2, AMELX, ERCC1, ALG2, ITGB6, NKX3-2, TBX3, PPARG, COL5A1, COG6, VANGL1, RBM28, MAN2B1, TNPO3, RAB3GAP2, IBA57, EFEMP2, CLASP1, KCNQ1OT1, DACT1, NEU1, TGM1, BMP4, ERCC2, PDGFRB, CECR1, SMAD4, CPT2, HLA-DQA1, ATP6V0A2, FGD1, PTCH1, WNT7A, CHD7, FBLN5, ZNF592, FLCN, GLUL, LRP1, TMCO1, TPM3, ANTXR2, SPG20, MEGF10, LONP1, CNTNAP1, TNNI2, IFNG, NSUN2, ELOVL4, MYH8, LMOD3, GDAP1, POMT2, NOTCH3, NFIX, KLHL41, TBC1D20, PAX8, PLIN1, RNU4ATAC, GPC3, KCNJ11, BICD2, GJA1, DYSF, MYH3, SNRPB, RPS28, SGCA, CHRNB1, COL17A1, TGFB3, TGFB2, GCK, TRIM2, UROS, MMP2, WNT5A, MED12, NEFL, MAGEL2, CDKN1C, ATP7B, DLX3, SIL1, B3GALT6, TBX15, SHANK3, HGSNAT, RUNX2, LCK, GLE1, FLNA, BIN1, WDR72, HCCS, PEX2, PMP22, AMH, SPG11, SLC39A13, NSD1, NEB, PRDM12, INSR, SERPINH1, FLVCR2, RPGR, PLCG2, LIFR, GNPAT, FAM20A, L1CAM, OPA1, DPAGT1, ARX, KCNJ2, HOXD13, EXOSC3, MPDU1, MYH11, ADCY6, ATR, PIK3R1, DSPP, PORCN, RYR1, FTO



GO terms for Biological Process
--> -->
 
 
<type 'exceptions.TypeError'>
Python 2.7.9: /usr/bin/python
Tue Jun 9 04:23:39 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:0003549', name = 'ABNORMALITY_OF_CONNECTIVE_TISSUE', 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:0003549', name='ABNORMALITY_OF_CONNECTIVE_TISSUE', gene_set=set(['ABCC8', 'ABCC9', 'ABCD4', 'ABHD12', 'ACADS', 'ACTA1', ...]), mim_set=set(['102500', '103580', '104500', '104510', '104530', '106300', ...]), 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...NOTCH1">NOTCH1</a></p></td></tr></tbody> </table>', set(['GO:0000079', 'GO:0000122', 'GO:0000187', 'GO:0000578', 'GO:0000902', 'GO:0000904', ...])), cla = 'HP:0003549', name = 'ABNORMALITY_OF_CONNECTIVE_TISSUE'
 /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...NOTCH1">NOTCH1</a></p></td></tr></tbody> </table>', set(['GO:0000079', 'GO:0000122', 'GO:0000187', 'GO:0000578', 'GO:0000902', 'GO:0000904', ...])), phen='HP:0003549', onto_name='GOBP', cla_name='ABNORMALITY_OF_CONNECTIVE_TISSUE')
    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:0003549_GOBP_static.html', mode 'w'>, myfile.write = <built-in method write of file object>, content = ('<table id=allclass2BP_NETGE class="display"> <th...NOTCH1">NOTCH1</a></p></td></tr></tbody> </table>', set(['GO:0000079', 'GO:0000122', 'GO:0000187', 'GO:0000578', 'GO:0000902', 'GO:0000904', ...]))

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