Hereditary disorder of musculoskeletal system

Code	`363212003`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

7707540062p21 microdeletion syndrome without cystinuria disorder

7023420073-M syndrome disorder

73362100746,XX disorder of sex development with skeletal anomalies syndrome disorder

7241470048q13 microdeletion syndrome disorder

12298950088q24.3 microdeletion syndrome disorder

771264005Absent radius, anogenital anomalies syndrome disorder

719685004Absent thumb with short stature and immunodeficiency syndrome disorder

733068001Absent tibia, polydactyly, arachnoid cyst syndrome disorder

86268005Achondroplasia disorder

720416007Acrocapitofemoral dysplasia disorder

403767009Acrocephalopolysyndactyly type II disorder

205258009Acrocephalosyndactyly type I disorder

70410008Acrocephalosyndactyly type V disorder

720418008Acrocraniofacial dysostosis disorder

66758006Acrodysostosis disorder

720419000Acrofacial dysostosis Catania type disorder

720427009Acrofacial dysostosis Kennedy Teebi type disorder

720429007Acrofacial dysostosis Palagonia type disorder

720430002Acrofacial dysostosis Rodriguez type disorder

720408003Acrofrontofacionasal dysostosis disorder

721835008Acrofrontofacionasal dysostosis type 2 disorder

389167007Acromesomelic dysplasia Hunter-Thompson type disorder

718559000Acromesomelic dysplasia Maroteaux type disorder

254090007Acromicric dysplasia disorder

720412009Acropectoral syndrome disorder

720457000Acropectorovertebral dysplasia disorder

720414005Acrorenal mandibular syndrome disorder

720415006Acrorenoocular syndrome disorder

702349003Actin accumulation myopathy disorder

725464001Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy disorder

733599009Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

722283003Agnathia, holoprosencephaly, situs inversus syndrome disorder

702327009Allan-Herndon-Dudley syndrome disorder

783770002Alpha-B crystallin-related late-onset myopathy disorder

1197155007Amish nemaline myopathy disorder

63135006Amyotonia congenita disorder

422348008Andersen Tawil syndrome disorder

785808002Aneurysm osteoarthritis syndrome disorder

720984008Angel-shaped phalangoepiphyseal dysplasia disorder

720467005Aniridia and absent patella syndrome disorder

720492008Ankylosing vertebral hyperostosis with tylosis syndrome disorder

1222706005Anterior maxillary protrusion, strabismus, intellectual disability syndrome disorder

62964007Antley-Bixler syndrome disorder

733118006Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome disorder

54954004Aspartylglucosaminuria disorder

1345055005Asymmetric crying facies syndrome disorder

43814000Atelosteogenesis disorder

702443003Auriculo-condylar syndrome disorder

1222679006Autoimmune interstitial lung disease, arthritis syndrome disorder

829973009Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis disorder

716696006Autosomal dominant centronuclear myopathy disorder

1202024009Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation disorder

1179294000Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome disorder

237890006Autosomal dominant hypophosphataemic bone disease disorder

778069004Autosomal dominant mandibular prognathism disorder

1222644009Autosomal dominant mitochondrial myopathy with exercise intolerance disorder

1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome disorder

1187115008Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome disorder

827115000Autosomal dominant progressive external ophthalmoplegia disorder

716232002Autosomal dominant spondylocostal dysostosis disorder

1351328007Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency disorder

1202025005Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation disorder

784381008Autosomal recessive cutis laxa type 2A disorder

778068007Autosomal recessive cutis laxa type 2B disorder

715487005Autosomal recessive distal osteolysis syndrome disorder

237891005Autosomal recessive hypophosphataemic bone disease disorder

770901001Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome disorder

1222704008Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy disorder

771302009Autosomal recessive lower motor neuron disease with childhood onset disorder

827117008Autosomal recessive progressive external ophthalmoplegia disorder

719097002BSG syndrome disorder

722298001Ballard syndrome disorder

77608001Baller-Gerold syndrome disorder

733093004Banki syndrome disorder

193222002Benign congenital myopathy disorder

389237009Blomstrand dysplasia disorder

880067009Blount disease disorder

732249002Bone dysplasia lethal Holmgren type disorder

720568003Brachydactyly and arterial hypertension syndrome disorder

732956000Brachydactyly and distal symphalangism syndrome disorder

732957009Brachydactyly and preaxial hallux varus syndrome disorder

389168002Brachydactyly syndrome type B disorder

715720006Brachydactyly type A1 disorder

890438002Brachydactyly type A3 disorder

715721005Brachydactyly type A4 disorder

715722003Brachydactyly type A6 disorder

770406002Brachydactyly type B2 disorder

890439005Brachydactyly type D disorder

782914000Brachydactyly, short stature, retinitis pigmentosa syndrome disorder

254088006Brachyolmia disorder

778067002Brachytelephalangic chondrodysplasia punctata disorder

449821007Branchiooculofacial syndrome disorder

703530005Brody myopathy disorder

1340172003CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome disorder

720599002Campomelia Cumming type disorder

720601000Camptodactyly and tall stature with scoliosis and hearing loss syndrome disorder

720602007Camptodactyly syndrome Guadalajara type 1 disorder

720603002Camptodactyly syndrome Guadalajara type 2 disorder

720600004Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome disorder

771187008Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome disorder

703532002Cap myopathy disorder

720606005Cardiocranial syndrome Pfeiffer type disorder

720609003Cardiomyopathy with cataract and hip spine disease syndrome disorder

720612000Cardiospondylocarpofacial syndrome disorder

389272007Carpotarsal osteochondromatosis disorder

1220595008Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome disorder

722383001Catel Manzke syndrome disorder

711265009Caveolin 3 related distal myopathy disorder

43152001Central core disease disorder

720635002Cerebro-facio-thoracic dysplasia disorder

763353000Cerebrofacioarticular syndrome disorder

389273002Cherubism with gingival fibromatosis disorder

787172004Childhood-onset autosomal recessive myopathy with external ophthalmoplegia disorder

1197154006Childhood-onset nemaline myopathy disorder

773492007Childhood-onset spasticity with hyperglycinaemia disorder

716238003Chitty Hall Baraitser syndrome disorder

232373003Choanal atresia with radial ray hypoplasia disorder

720640005Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome disorder

715631005Chondrodysplasia punctata Toriello type disorder

398958000Chondrodysplasia punctata, X-linked dominant type disorder

254082007Chondrodysplasia punctata, X-linked recessive type disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

782882009Chondrodysplasia with joint dislocations gPAPP type disorder

719466009Cleft palate with short stature and vertebral anomaly syndrome disorder

65976001Cleidocranial dysostosis disorder

719471002Cleidorhizomelic syndrome disorder

717771007Cloverleaf skull with multiple congenital anomalies syndrome disorder

764942005Colobomatous microphthalmia, rhizomelic dysplasia syndrome disorder

35691006Combined deficiency of sialidase AND beta galactosidase disorder

770625006Combined immunodeficiency with faciooculoskeletal anomalies syndrome disorder

1172841001Combined oxidative phosphorylation defect type 30 disorder

1279845005Combined oxidative phosphorylation defect type 39 disorder

1228858000Complex lethal osteochondrodysplasia disorder

717812000Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome disorder

773398005Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome disorder

1208413008Congenital fibre-type disproportion myopathy due to ACTA1 mutation disorder

1209168005Congenital fibre-type disproportion myopathy due to MYH7 mutation disorder

1208416000Congenital fibre-type disproportion myopathy due to TPM3 mutation disorder

1201964008Congenital fibre-type disproportion myopathy due to ZAK mutation disorder

719842006Congenital hypoplasia of ulna and intellectual disability syndrome disorder

733030003Congenital hypoplasia of ulna and split foot syndrome disorder

1279831004Congenital insensitivity to pain, anosmia, neuropathic arthropathy disorder

764945007Congenital myopathy with internal nuclei and atypical cores disorder

763315005Congenital myopathy with myasthenic-like onset disorder

1255274002Congenital myopathy with reduced type 2 muscle fibres disorder

57938005Congenital myotonia, autosomal dominant form disorder

20305008Congenital myotonia, autosomal recessive form disorder

725101002Congenital short costocoracoid ligament disorder

1260142000Congenital vertebral, cardiac, renal anomalies syndrome disorder

763318007Connective tissue disorder due to lysyl hydroxylase-3 deficiency disorder

766874001Cono-spondylar dysplasia disorder

732248005Coxoauricular syndrome disorder

720752007Coxopodopatellar syndrome disorder

205506004Craniodiaphyseal dysplasia disorder

720754008Craniofacial conodysplasia syndrome disorder

773622005Craniofacial dysplasia osteopenia syndrome disorder

1217229007Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome disorder

720755009Craniofacial dyssynostosis syndrome disorder

715421009Craniofrontonasal dysplasia disorder

725100001Craniolenticulosutural dysplasia disorder

725098001Craniomicromelic syndrome disorder

720753002Cranioosteoarthropathy disorder

720817008Craniosynostosis Boston type disorder

720818003Craniosynostosis Philadelphia type disorder

773332008Craniosynostosis and dental anomalies syndrome disorder

720816004Craniosynostosis and intracranial calcification syndrome disorder

732250002Craniosynostosis fibular aplasia syndrome disorder

720813007Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome disorder

720812002Craniosynostosis, anal anomaly, porokeratosis syndrome disorder

1269224009Craniosynostosis, microretrognathia, severe intellectual disability syndrome disorder

725097006Crisponi syndrome disorder

28861008Crouzon syndrome disorder

725096002Cryptomicrotia brachydactyly syndrome disorder

277807007Curry-Hall syndrome disorder

703528008Cutis gyrata syndrome of Beare and Stevenson disorder

59399004Cutis laxa, x-linked disorder

732261005Cyprus facial neuromusculoskeletal syndrome disorder

37183000Cystinuria, type 1 disorder

720826006Czech dysplasia metatarsal type disorder

719021005DK phocomelia syndrome disorder

783057002DNA2-related mitochondrial DNA deletion syndrome disorder

1236845001DONSON-related microcephaly, short stature, limb abnormalities spectrum disorder

719800009DOORS syndrome disorder

721082002Dacryocystitis and osteopoikilosis syndrome disorder

763688008Deafness, encephaloneuropathy, obesity, valvulopathy syndrome disorder

721090002Dermatoosteolysis Kirghizian type disorder

254099008Desbuquois syndrome disorder

770627003Desmin-related myofibrillar myopathy disorder

709490002Desmosterolosis disorder

721094006Diaphanospondylodysostosis disorder

721095007Diaphragmatic defect, limb deficiency, skull defect syndrome disorder

34643004Diaphyseal dysplasia disorder

389216001Diaphyseal medullary stenosis with bone malignancy disorder

58561002Diastrophic dysplasia disorder

771261002Digital extensor muscle aplasia with polyneuropathy disorder

763755009Dislocation of hip and facial dysmorphism syndrome disorder

722429003Distal limb deficiency with micrognathia syndrome disorder

765196004Distal myotilinopathy disorder

720598005Doughnut lesion of calvaria and bone fragility syndrome disorder

82699004Dyggve-Melchior-Clausen syndrome disorder

51984006Dysmorphic sialidosis, infantile form disorder

205480005Dysplasia epiphysealis hemimelica disorder

765204000Dyssegmental dysplasia Silverman Handmaker type disorder

1260203008EVEN-plus syndrome disorder

1222661007Early-onset calcifying leucoencephalopathy, skeletal dysplasia disorder

1236844002Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome disorder

771177009Ectrodactyly polydactyly syndrome disorder

733457006Ehlers-Danlos and osteogenesis imperfecta syndrome disorder

398114001Ehlers-Danlos syndrome disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

718099006Enlarged parietal foramina disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

733416004Exostosis, anetoderma, brachydactyly type E syndrome disorder

782937006Extensor tendons of finger anomalies disorder

783774006External auditory canal atresia, vertical talus, hypertelorism syndrome disorder

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

778029000FASTKD2-related infantile mitochondrial encephalomyopathy disorder

778008009FGFR2-related bent bone dysplasia disorder

725411000Familial Scheuermann disease disorder

71322004Familial articular hypermobility syndrome disorder

715657008Familial avascular necrosis of femoral head disorder

1162808000Familial calcium pyrophosphate dihydrate crystal deposition disease disorder

726628003Familial chondromalacia of patella disorder

717192003Familial digital arthropathy and brachydactyly syndrome disorder

763352005Familial dyskinesia and facial myokymia disorder

1263445009Familial gigantiform cementoma of jaw disorder

82732003Familial hypokalaemic periodic paralysis disorder

46785007Familial juvenile hyperuricaemic nephropathy disorder

715899006Familial osteochondritis dissecans disorder

725030006Familial scaphocephaly syndrome McGillivray type disorder

82236004Familial x-linked hypophosphataemic vitamin D refractory rickets disorder

782883004Fatal infantile hypertonic myofibrillar myopathy disorder

17144009Fibrochondrogenesis disorder

715474004Fibular aplasia and complex brachydactyly disorder

720952001Fibular aplasia and ectrodactyly syndrome disorder

720954000Filippi syndrome disorder

720955004Fine Lubinsky syndrome disorder

312214005Floating-Harbor syndrome disorder

720957007Fountain syndrome disorder

254150007Francois syndrome disorder

720958002Frank-Ter Haar syndrome disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

773628009Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome disorder

1230021007Frontorhiny disorder

702432006Fryns syndrome disorder

721296004Fuhrmann syndrome disorder

238025006GM1 gangliosidosis disorder

230669004Genetically determined myasthenia disorder

1003427004Genochondromatosis type 1 disorder

725904009Genochondromatosis type 2 disorder

254116003Geroderma osteodysplastica disorder

389214003Ghosal haematodiaphyseal dysplasia disorder

1186809004Glycogen storage disease due to lactate dehydrogenase deficiency disorder

15978003Glycogen storage disease, muscular form disorder

237964009Glycogen synthase deficiency disorder

715568002Gnathodiaphyseal dysplasia disorder

717823001Goldblatt syndrome disorder

205418005Goldenhar syndrome disorder

716006003Gollop Wolfgang complex disorder

716022002Gollop syndrome disorder

723827003Grant syndrome disorder

699861000Granulomatous inflammatory arthritis, dermatitis and uveitis, familial disorder

77542002Grebe syndrome disorder

722452004Guttmacher syndrome disorder

771180005Hallux varus, preaxial polysyndactyly syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

721009008Heart defect and limb shortening syndrome disorder

721014007Heart-hand syndrome Slovenian type disorder

254148004Hereditary acroosteolysis disorder

718602007Hereditary arterial and articular multiple calcification syndrome disorder

238855000Hereditary camptodactyly disorder

1231178006Hereditary continuous muscle fibre activity disorder

771306007Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome disorder

770786001Hereditary inclusion body myopathy type 4 disorder

53387004Hereditary myopathy associated with hydrocephalus disorder

702373006Hereditary myopathy with early respiratory failure disorder

193225000Hereditary progressive muscular dystrophy disorder

782781006High bone mass osteogenesis imperfecta disorder

721223002Hirschsprung disease with nail hypoplasia and dysmorphism disorder

19092004Holt-Oram syndrome disorder

783159001Holzgreve syndrome disorder

702381007Horizontal gaze palsy with progressive scoliosis disorder

721227001Hunter McAlpine craniosynostosis syndrome disorder

58756001Huntington's chorea disorder

721229003Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome disorder

732926009Hydrocephalus, tall stature, joint laxity syndrome disorder

85551004Hypermobility syndrome disorder

724284005Hypertelorism Teebi type disorder

721836009Hypertelorism with microtia and facial clefting syndrome disorder

773667003Hypertelorism, preauricular sinus, punctual pits, deafness syndrome disorder

718713000Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome disorder

721845005Hypomandibular faciocranial dysostosis disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

716741008Hypoplastic tibia and postaxial polydactyly syndrome disorder

70199000I-cell disease disorder

771333006Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome disorder

1186654001Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome disorder

702382000Inclusion body myopathy 2 disorder

703544004Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia disorder

1217371005Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome disorder

238867003Infantile systemic hyalinosis disorder

28204005Inherited arthrogryposis disorder

726709001Intellectual disability, cataract, calcified pinna, myopathy syndrome disorder

1187210007Intellectual disability, epilepsy, extrapyramidal syndrome disorder

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

770755007Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome disorder

1197156008Intermediate nemaline myopathy disorder

1345054009Isolated asymmetric crying facies disorder

1231182008Isolated osteopoikilosis disorder

709105005Jackson-Weiss syndrome disorder

61367005Jarcho-Levin syndrome disorder

75049004Jeune thoracic dystrophy disorder

721874001Juberg Hayward syndrome disorder

238861002Juvenile hyaline fibromatosis disorder

722032005Karsch Neugebauer syndrome disorder

763774001Keipert syndrome disorder

724208006Keutel syndrome disorder

764957003King Denborough syndrome disorder

1217225001Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome disorder

53974002Kniest dysplasia disorder

1172590009Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome disorder

1172591008Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome disorder

63387002Larsen syndrome disorder

724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder

770558006Late-onset distal myopathy Markesbery Griggs type disorder

17818006Leri-Weill dyschondrosteosis disorder

93132001Lethal Kniest-like syndrome disorder

719409004Lethal Larsen-like syndrome disorder

766251006Lethal infantile mitochondrial myopathy disorder

60192008Lethal multiple pterygium syndrome disorder

1197587003Lethal neonatal spasticity, epileptic encephalopathy syndrome disorder

773672007Lethal occipital encephalocele, skeletal dysplasia syndrome disorder

1362022003Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome disorder

719404009Lethal recessive chondrodysplasia disorder

719405005Leucoencephalopathy with metaphyseal chondrodysplasia syndrome disorder

764437006Liebenberg syndrome disorder

240095001Lipid storage myopathy disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

717977003Lissencephaly syndrome Norman Roberts type disorder

718720007Lissencephaly type 3 metacarpal bone dysplasia syndrome disorder

733454004Long thumb brachydactyly syndrome disorder

721974000Lowry MacLean syndrome disorder

716023007MacDermot Winter syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

723366001Macrostomia, preauricular tag, external ophthalmoplegia syndrome disorder

722463001Macular coloboma, cleft palate, hallux valgus syndrome disorder

703540008Majeed syndrome disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

718679004Mammary digital nail syndrome disorder

773406003Mandibular hypoplasia, deafness, progeroid syndrome disorder

109419009Mandibuloacral dysostosis disorder

1373746006Mandibuloacral dysplasia associated to MTX2 disorder

65524005Mannosidosis disorder

73284007Marshall-Smith syndrome disorder

472320005Maternally inherited mitochondrial cardiomyopathy and myopathy disorder

1187517009Maternally inherited mitochondrial myopathy disorder

1197053003Melorheostosis with osteopoikilosis disorder

59178007Menkes kinky-hair syndrome disorder

719397009Mesomelic dysplasia Kantaputra type disorder

766715000Metabolic myopathy due to lactate transporter defect disorder

205481009Metachondromatosis disorder

7720002Metaphyseal chondrodysplasia, McKusick type disorder

724146008Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria disorder

733419006Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome disorder

717221005Metaphyseal dysplasia Braun Tinschert type disorder

724145007Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome disorder

723403008Microbrachycephaly, ptosis, cleft lip syndrome disorder

723404002Microcephalic osteodysplastic dysplasia Saul Wilson type disorder

1208348002Microcephalic osteodysplastic primordial dwarfism type II disorder

725461009Microcephalic osteodysplastic primordial dwarfism types I and III disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

715462003Microcephaly with cervical spine fusion anomaly disorder

1254651003Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome disorder

720010009Microphthalmia with brain atrophy syndrome disorder

724140002Microspherophakia with metaphyseal dysplasia syndrome disorder

715670004Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis disorder

765401006Mitochondrial DNA depletion syndrome encephalomyopathic form disorder

1231309005Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form disorder

784370005Mitochondrial myopathy with reversible cytochrome C oxidase deficiency disorder

724138007Mitochondrial myopathy with sideroblastic anaemia syndrome disorder

1237514002Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome disorder

718214007Mitochondrial neurogastrointestinal encephalomyopathy syndrome disorder

719843001Morava Mehes syndrome disorder

378007Morquio syndrome disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

787407003Muenke syndrome disorder

766992008Multicentric carpotarsal osteolysis syndrome disorder

716868003Multicentric osteolysis nodulosis arthropathy spectrum disorder

785303004Multiple congenital anomalies, hypotonia, seizures syndrome disorder

254044004Multiple congenital exostosis disorder

716742001Multiple osteochondroma disorder

9105005Muscle AMP deaminase deficiency disorder

55783001Muscle L-lactate dehydrogenase deficiency disorder

725027004Muscle and heart glycogen synthase deficiency disorder

764992006Muscle filaminopathy disorder

61772003Muscle phosphoglycerate mutase deficiency disorder

237611007Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus disorder

723407009Muscular dystrophy Selcen type disorder

773584001Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome disorder

230426003Myoclonic epilepsy with ragged red fibres disorder

724095006Myopathy due to calsequestrin and SERCA1 protein overload disorder

699268002Myopathy with deficiency of iron-sulfur cluster assembly enzyme disorder

763895001Myosclerosis disorder

699267007Myosin storage myopathy disorder

237984008NARP syndrome disorder

22199006Nail-patella syndrome disorder

716170005Nathalie syndrome disorder

723439002Native American myopathy disorder

1186718008Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome disorder

773331001Nestor Guillermo progeria syndrome disorder

1303586006Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

1208615009Neurogenic scapuloperoneal syndrome Kaeser type disorder

237988006Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency disorder

33979003Nievergelt's syndrome disorder

424795008Non dystrophic myotonia disorder

771308008Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome disorder

723442008Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome disorder

1255268002Oculocerebrodental syndrome disorder

722019000Oculootoradial syndrome disorder

721017000Oliver syndrome disorder

725164008Omodysplasia disorder

1222655009Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome disorder

722109008Osteocraniostenosis disorder

1234828008Osteofibrous dysplasia disorder

1003379004Osteogenesis imperfecta type 5 disorder

385482004Osteogenesis imperfecta type I disorder

15552004Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts disorder

279309008Osteogenesis imperfecta, type IV B disorder

787408008Osteopathia striata, pigmentary dermopathy, white forelock syndrome disorder

732954002Osteopenia, intellectual disability, sparse hair syndrome disorder

1926006Osteopetrosis disorder

722113001Osteoporosis and oculocutaneous hypopigmentation syndrome disorder

733064004Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome disorder

49347007Osteosclerosis disorder

722117000Osteosclerosis, developmental delay, craniosynostosis syndrome disorder

441944007Oto-onycho-peroneal syndrome disorder

784010006Otopalatodigital syndrome spectrum disorder disorder

254060000Otospondylomegaepiphyseal dysplasia disorder

88220006Pachydermoperiostosis syndrome disorder

722127006Pacman dysplasia disorder

722207000Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome disorder

40158001Papillon-Lefèvre syndrome disorder

783013001Parana hard skin syndrome disorder

722210007Parastremmatic dwarfism disorder

771338002Parietal foramina with clavicular hypoplasia disorder

722211006Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome disorder

724069009Patterson Stevenson Fontaine syndrome disorder

719298001Pelvis shoulder dysplasia disorder

719299009Pelviscapular dysplasia disorder

782752005Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome disorder

771186004Poikiloderma, alopecia, retrognathism, cleft palate syndrome disorder

702347001Polycystic lipomembranous osteodysplasia with sclerosing leucoencephalopathy disorder

715710001Polydactyly of triphalangeal thumb disorder

774148007Polyglucosan body myopathy type 1 disorder

1228849007Polyglucosan body myopathy type 2 disorder

36517007Polyostotic fibrous dysplasia of bone disorder

773279006Postaxial polydactyly, dental, vertebral anomalies syndrome disorder

770946000Postaxial tetramelic oligodactyly disorder

724064004Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome disorder

702355008Potassium aggravated myotonia disorder

1279844009Primary triglyceride deposit cardiomyovasculopathy disorder

764733009Progressive external ophthalmoplegia, myopathy, emaciation syndrome disorder

82725007Progressive myositis ossificans disorder

1187303004Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome disorder

23150001Proteus syndrome disorder

770722002Proximal myopathy with extrapyramidal signs disorder

5187006Prune belly syndrome disorder

254058002Pseudodiastrophic dysplasia disorder

58833000Pseudohypoparathyroidism type I A disorder

721887007Puerto Rican infant hypotonia syndrome disorder

719258003Pyknoachondrogenesis disorder

27837003Pyle metaphyseal dysplasia disorder

724015007Pyogenic arthritis, pyoderma gangrenosum, acne syndrome disorder

1220568003QRICH1-related intellectual disability, chondrodysplasia syndrome disorder

723999009RHYNS syndrome disorder

85589009Radial aplasia-thrombocytopenia syndrome disorder

721882001Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome disorder

389239007Raine dysplasia disorder

715471007Reardon Hall Slaney syndrome disorder

1172698005Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome disorder

715472000Reinhardt Pfeiffer mesomelic dysplasia disorder

703542000Retinal detachment and occipital encephalocoele disorder

56692003Rhizomelic chondrodysplasia punctata syndrome disorder

770948004Rhizomelic syndrome Urbach type disorder

782941005Richieri Costa-da Silva syndrome disorder

76520005Robinow syndrome disorder

773404000Roifman syndrome disorder

95243004Rolland-Debuqois syndrome disorder

734173003SCARF syndrome disorder

1172632008SIX2-related frontonasal dysplasia disorder

83015004Saethre-Chotzen syndrome disorder

716094008Saito Kuba Tsuruta syndrome disorder

254092004Saldino-Mainzer dysplasia disorder

723995003Schimke immuno-osseous dysplasia disorder

716092007Schmitt Gillenwater Kelly syndrome disorder

722002002Scholte syndrome disorder

29145002Schwartz-Jampel syndrome disorder

722114007Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome disorder

57917004Seckel syndrome disorder

1187250005Seizures, scoliosis, macrocephaly syndrome disorder

717266001Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome disorder

722212004Severe X-linked mitochondrial encephalomyopathy disorder

46804001Severe X-linked myotubular myopathy disorder

1187212004Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome disorder

723676007Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

1208341008Severe oculo-renal-cerebellar syndrome disorder

721069005Short fifth metacarpal insulin resistance syndrome disorder

205484001Short rib polydactyly syndrome disorder

726734001Short stature locking fingers syndrome disorder

763890006Short stature with delayed bone age due to thyroid hormone metabolism deficiency disorder

723998001Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome disorder

1197586007Short stature, advanced bone age, early-onset osteoarthritis syndrome disorder

774155009Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

773625007Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome disorder

721072003Short stature, pituitary and cerebellar defect and small sella turcica syndrome disorder

721075001Short tarsus with absence of lower eyelashes syndrome disorder

773556006Short ulna, dysmorphism, hypotonia, intellectual disability syndrome disorder

789777007Short-limb skeletal dysplasia with severe combined immunodeficiency disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

89454001Shwachman syndrome disorder

278991002Sialic storage disease disorder

254114000Singleton-Merten syndrome disorder

733095006Skeletal dysplasia brachydactyly syndrome disorder

715428003Skeletal dysplasia with epilepsy and short stature syndrome disorder

722478008Skeletal dysplasia with intellectual disability syndrome disorder

733468006Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome disorder

715862006Smith McCort dysplasia disorder

715504003Spastic paraparesis and deafness disorder

726622002Spastic paraplegia with Paget disease of bone syndrome disorder

765092004Spheroid body myopathy disorder

726724005Splenogonadal fusion, limb defect, micrognathia syndrome disorder

732927000Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome disorder

773693005Spondylo-megaepiphyseal-metaphyseal dysplasia disorder

715653007Spondylo-ocular syndrome disorder

716231009Spondylocamptodactyly syndrome disorder

723610009Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome disorder

254079002Spondyloenchondrodysplasia disorder

389268008Spondyloenchondromatosis disorder

773303005Spondyloepimetaphyseal dysplasia Genevieve type disorder

763885008Spondyloepimetaphyseal dysplasia Handigodu type disorder

717330004Spondyloepimetaphyseal dysplasia Irapa type disorder

719171005Spondyloepimetaphyseal dysplasia Missouri type disorder

719172003Spondyloepimetaphyseal dysplasia PAPSS2 type disorder

719201004Spondyloepimetaphyseal dysplasia Shohat type disorder

719165004Spondyloepimetaphyseal dysplasia aggrecan type disorder

764460003Spondyloepimetaphyseal dysplasia anauxetic type disorder

719166003Spondyloepimetaphyseal dysplasia matrilin-3 type disorder

1286833006Spondyloepimetaphyseal dysplasia with joint laxity Beighton type disorder

1286834000Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type disorder

766820007Spondyloepimetaphyseal dysplasia with multiple dislocations disorder

773302000Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome disorder

773300008Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome disorder

766821006Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome disorder

718765003Spondyloepiphyseal dysplasia Cantu type disorder

719203001Spondyloepiphyseal dysplasia Kimberley type disorder

718763005Spondyloepiphyseal dysplasia MacDermot type disorder

719204007Spondyloepiphyseal dysplasia Maroteaux type disorder

718764004Spondyloepiphyseal dysplasia Reardon type disorder

1228860003Spondyloepiphyseal dysplasia Stanescu type disorder

51952004Spondyloepiphyseal dysplasia tarda disorder

702400006Spondyloepiphyseal dysplasia with congenital joint dislocations disorder

718766002Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome disorder

1356736002Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome disorder

784006008Spondylometaphyseal dysplasia disorder

702339001Spondyloperipheral dysplasia disorder

1197589000Steel syndrome disorder

773702002Sterile multifocal osteomyelitis with periostitis and pustulosis disorder

782167001Stewart-Morel-Morgagni syndrome disorder

78675000Stickler syndrome disorder

783097004Stickler syndrome type 3 disorder

1187132007Sugarman brachydactyly disorder

1162837001Symphalangism Cushing type disorder

732955001Symphalangism with multiple anomalies of hands and feet syndrome disorder

783553008Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome disorder

718212006TMEM70 related mitochondrial encephalo-cardio-myopathy disorder

770788000Tall stature, scoliosis, macrodactyly of great toe syndrome disorder

723580007Talo-patello-scaphoid osteolysis syndrome disorder

702312009Tarsal-carpal coalition syndrome disorder

771265006Teebi Shaltout syndrome disorder

719946008Tel Hashomer camptodactyly syndrome disorder

777998000Temtamy preaxial brachydactyly syndrome disorder

719947004Temtamy syndrome disorder

770945001Tetramelic monodactyly disorder

722476007Thickened earlobe with conductive deafness syndrome disorder

782951006Thoracic dysplasia and hydrocephalus syndrome disorder

723556008Thoracolaryngopelvic dysplasia disorder

783003009Thoracomelic dysplasia disorder

771511005Thrombocythaemia with distal limb defect disorder

733117001Thumb stiffness, brachydactyly, intellectual disability syndrome disorder

715531000Tibial aplasia and ectrodactyly syndrome disorder

771266007Torticollis, keloids, cryptorchidism, renal dysplasia syndrome disorder

82203000Treacher Collins syndrome disorder

818959006Trichorhinophalangeal syndrome type 1 and 3 disorder

19604005Triglyceride storage disease with ichthyosis disorder

719948009Trigonocephaly with bifid nose and acral anomaly syndrome disorder

719949001Trigonocephaly with broad thumb syndrome disorder

733066002Trigonocephaly, short stature, developmental delay syndrome disorder

1285322008Triopia disorder

733456002Triphalangeal thumb and dislocation of patella syndrome disorder

719950001Triphalangeal thumb and polysyndactyly syndrome disorder

719951002Triphalangeal thumb with brachyectrodactyly syndrome disorder

1197153000Typical nemaline myopathy disorder

715242008Ulna metaphyseal dysplasia syndrome disorder

719041000Upington disease disorder

716334004Urban Rogers Meyer syndrome disorder

733110004Van den Bosch syndrome disorder

763616002Velofacioskeletal syndrome disorder

68295002Vitamin D-dependent rickets disorder

763619009White forelock with malformations syndrome disorder

389274008Whyte Hemingway carpal tarsal phalangeal osteolyses disorder

782786001X-linked calvarial hyperostosis disorder

719837003X-linked dominant chondrodysplasia Chassaing Lacombe type disorder

719157002X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome disorder

718845002X-linked intellectual disability with ataxia and apraxia syndrome disorder

719138006X-linked intellectual disability with cubitus valgus and dysmorphism syndrome disorder

719812008X-linked intellectual disability with plagiocephaly syndrome disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder

1172692006X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome disorder

719813003X-linked mandibulofacial dysostosis disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

719815005X-linked myopathy with excessive autophagy disorder

782785002X-linked osteoporosis with fractures disorder

770757004X-linked parkinsonism with spasticity syndrome disorder

725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder

770603000X-linked spondyloepimetaphyseal dysplasia disorder

773307006Zechi Ceide syndrome disorder

59252009de Barsey syndrome disorder

Hereditary disorder of musculoskeletal system

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