CHEST


It has 469 associated diseases.

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Associated diseases: PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 19, CATSHL SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, RUIJS-AALFS SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, SECKEL SYNDROME 7, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, KBG SYNDROME, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, BORJESON-FORSSMAN-LEHMANN SYNDROME, FRONTONASAL DYSPLASIA 1, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, AROMATASE EXCESS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, NAIL-PATELLA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, AYME-GRIPP SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, ?PREMATURE OVARIAN FAILURE 10, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, COWDEN SYNDROME 7, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, ?SECKEL SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, FRAGILE X SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, MUCOLIPIDOSIS III ALPHA/BETA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, VAN MALDERGEM SYNDROME 2, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DESBUQUOIS DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MARSHALL-SMITH SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, LATERAL MENINGOCELE SYNDROME, VAN MALDERGEM SYNDROME 1, TARP SYNDROME, OVARIAN DYSGENESIS 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, 3-M SYNDROME 1, CARTILAGE-HAIR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XV, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, DYGGVE-MELCHIOR-CLAUSEN DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, COLE DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ADULT SYNDROME, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MEIER-GORLIN SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, KABUKI SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, PRECOCIOUS PUBERTY, CENTRAL, 2, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, RAINE SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, C SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, KENNY-CAFFEY SYNDROME, TYPE 1, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS IB, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, 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, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, SCLEROSTEOSIS 1, SHWACHMAN-DIAMOND SYNDROME, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, GELEOPHYSIC DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CHIME SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ANDERSEN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, DESBUQUOIS DYSPLASIA 2, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GRACILE BONE DYSPLASIA, SIALIC ACID STORAGE DISORDER, INFANTILE, OVARIAN DYSGENESIS 3, ESCOBAR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, ALLAN-HERNDON-DUDLEY SYNDROME, GREENBERG SKELETAL DYSPLASIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, KLIPPEL-FEIL SYNDROME 2, 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, MUCOPOLYSACCHARIDOSIS IVA, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, HAMAMY SYNDROME, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, BRUCK SYNDROME 1, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 3-M SYNDROME 3, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, METATROPIC DYSPLASIA, KAUFMAN OCULOCEREBROFACIAL SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, YUNIS-VARON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, HYDROLETHALUS SYNDROME, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, SCLEROSTEOSIS 2, MICROPHTHALMIA, SYNDROMIC 12, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, DIAMOND-BLACKFAN ANEMIA 10, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, VITAMIN D-DEPENDENT RICKETS, TYPE I, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, JOUBERT SYNDROME 21, ?CHARGE SYNDROME, CHARGE SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 4, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, SMITH-MCCORT DYSPLASIA 2, FIBROCHONDROGENESIS 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46,XX SEX REVERSAL, TYPE 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, ARTERIAL TORTUOSITY SYNDROME, PALLISTER-HALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MEIER-GORLIN SYNDROME 3, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, NEMALINE MYOPATHY 9, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ALSTROM SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PRIMROSE SYNDROME, MUCOLIPIDOSIS III GAMMA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, SMITH-MCCORT DYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, LYMPHEDEMA, HEREDITARY, III, ?HYPERPROLACTINEMIA, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE VIII, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LUJAN-FRYNS SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, KOOLEN-DE VRIES SYNDROME, KEUTEL SYNDROME, ACHONDROGENESIS, TYPE IA, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, WIEACKER-WOLFF SYNDROME, ?OTOFACIOCERVICAL SYNDROME 2, GM1-GANGLIOSIDOSIS, TYPE I, PREMATURE OVARIAN FAILURE 8, GLYCOGEN STORAGE DISEASE II, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SECKEL SYNDROME 5, SED CONGENITA, RESTRICTIVE DERMOPATHY, LETHAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CRANIOECTODERMAL DYSPLASIA 3, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, PERLMAN SYNDROME, CHILD SYNDROME, SECKEL SYNDROME 9, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CRANIOECTODERMAL DYSPLASIA 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CPT II DEFICIENCY, LETHAL NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SCHNECKENBECKEN DYSPLASIA, MENTAL RETARDATION, X-LINKED 90, OLIGODONTIA-COLORECTAL CANCER SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SIALURIA, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY



It has 443 associated genes.

Show genes

Associated genes: PLOD3, TCTN3, DCHS1, LBR, GNAS, COL3A1, GUSB, ENPP1, TRMT10A, PCYT1A, CDC6, KDM6A, SLC17A5, PIEZO2, NOG, SCARF2, ITGA3, ERCC6, GNPTAB, FREM1, TGFBR2, CREBBP, EFNB1, P3H1, DYNC2H1, EVC, FGFR3, SOX2, AXIN2, NALCN, AR, GNRHR, BUB1B, MGAT2, ALG11, MEGF8, CBL, TNNT1, MKRN3, KCTD1, ABCD4, TNNT2, CYP21A2, ANKRD11, ADAMTSL2, TAPT1, DDR2, SUFU, XYLT2, DVL3, STAG3, CHST14, TMCO1, TPM2, HDAC6, LEP, GDF2, CHRNA1, PQBP1, TUBB, RIPK4, INPPL1, AIP, UBA1, ADAMTS10, TANGO2, SH3PXD2B, EZH2, GLI3, NSDHL, NOTCH3, GNE, PEX5, XRCC4, MUSK, ZEB2, MTM1, TAC3, IFT122, CHST3, CUL4B, LRP5, TRIP11, MASP1, HNRNPK, SEPN1, KLHL41, PIGN, PIGL, FAT4, PTPN11, MAPRE2, COL5A2, SPRTN, LIPE, FKTN, EDARADD, PDHX, ZMPSTE24, RAB40AL, SNRPB, CCDC170, CTNS, LRP2, COX7B, HES7, ARHGAP31, SKI, CCBE1, FSHB, DNM2, RPS26, IRX5, TRAIP, NAA10, ACTB, SEMA3E, COL1A2, WDR11, COL11A2, VPS37A, BMP1, G6PC3, ADGRG6, ZBTB20, WT1, NPR2, PROK2, DES, CDT1, SOS1, GALNS, MBTPS2, EMD, NR5A1, CUL7, SF3B4, FIG4, SHOC2, TGFB2, SLC26A2, MAP2K2, TFAP2A, NME1, SP7, TRPV4, SLC34A3, NOTCH1, GNS, FGFR1, POC1A, CRYAB, SPRED1, RBM10, PTH1R, GPX4, RMRP, RAB18, TSR2, UPF3B, BRAF, UBE3B, ORC4, B4GALT7, ALPL, GNPTG, UBE2A, CBS, UBR1, CYP27B1, ARL2BP, RIN2, NIN, KCNJ5, TGDS, MFAP5, TNFRSF11B, KANSL1, VDR, NAGLU, FRAS1, SLC16A2, CCDC8, SEC24D, FREM2, MAF, ANTXR1, RBM28, DHODH, CENPJ, IFT140, PEX1, DLG3, PLS3, PAX3, ZC4H2, CYP19A1, RFT1, XYLT1, HYLS1, GATA6, DVL1, EIF2AK3, IFT43, SLC52A3, IGF1R, PEX3, NIPBL, WDR60, OFD1, APC, ISPD, STRA6, ADA, SMAD3, ALDH18A1, HSPG2, EXT2, HPGD, LMNA, CEP120, IGBP1, IKBKG, PMM2, TAF6, TRAPPC2, KDM1A, WDR35, KMT2A, EIF4A3, NEB, IGHMBP2, STK11, FMR1, PPP1R15B, COL1A1, LTBP4, BMPER, JAG1, SBDS, CPT2, COL2A1, ACOX1, MYH2, RARB, ACTA1, FKBP10, GRIP1, WDR34, RSPO1, TWIST2, SLC2A10, LZTR1, GPC3, ANOS1, GDF6, PTF1A, EDA, MET, CEP152, KDM5C, GAA, MMP13, SLC25A46, HSD17B3, MPC1, GLIS3, ICK, TNFRSF1A, DYM, B3GLCT, GSC, RPS6KA3, PAM16, DLL3, DIS3L2, SETBP1, KIAA0586, PTDSS1, EXT1, LMX1B, BICD2, USP9X, RAPSN, KIF1B, LTBP2, ROR2, TBX5, SEMA3A, FLNB, SMS, FBN1, IHH, POLD1, TTN, RPS19, PTEN, ALMS1, AMER1, IDUA, CHRND, LRP4, NRAS, ASXL1, LHB, WNT3, B3GAT3, CENPE, ATP7A, COL11A1, TP63, NEK1, FOXL2, SOST, PCNT, WDR19, FEZF1, ABCC9, PLOD2, CLASP1, PSMC3IP, TMEM165, HRAS, TACR3, SERPINF2, BAG3, PRLR, CYP17A1, KIF1BP, PTPRF, FUCA1, CD96, FAM20C, KISS1, CHRNG, TBCE, BANF1, PIGT, EBP, GLB1, TBX3, COL5A1, FAM111A, KISS1R, PAX1, SOX10, MAN2B1, RAB3GAP2, IBA57, NF1, SGCB, MARS2, ALG2, EFEMP2, ERCC2, COL13A1, FGD1, MEOX1, SMAD4, MATN3, KIF7, ATP6V0A2, WNT4, CYP2R1, PTCH1, WNT7A, CTSK, CHD7, FBLN5, RBM8A, IFT172, EVC2, AKT2, PTCH2, CANT1, MEGF10, HS6ST1, AGRN, NKX3-2, TGFBR1, CRTAP, ORC6, ZBTB16, EYA1, PROKR2, SEC23B, MCM8, RNU4ATAC, RET, GJA1, SOX9, TTC21B, SLC9A6, RPS28, CSPP1, TGFB3, DOK7, RAB33B, MCM9, IL1RN, FBN2, KRAS, C19orf12, WNT5A, VCP, MED12, PIEZO1, ABCC6, ARSB, B3GALT6, TBX15, MGP, CHRM3, HGSNAT, RUNX2, GLE1, FLNA, BIN1, FHL1, HCCS, HSD17B4, PHF6, ESR1, ORC1, INSR, TRPS1, KIAA0196, SERPINH1, ALX3, FGFR2, LIFR, RPL11, WNT1, DPAGT1, TBX6, KCNJ2, IFT80, GNRH1, MYH11, NFIX, ATR, SLC35D1, PORCN



GO terms for Biological Process
GO terms for Molecular Function
GO terms for Cellular Component
KEGG pathways
REACTOME pathways