Disorder of musculoskeletal system	Hereditary disorder by system
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Hereditary disorder of musculoskeletal system (disorder)
	Hereditary disorder of musculoskeletal system
	hereditaire aandoening van bewegingsapparaat
	erfelijke ziekte van musculoskeletaal stelsel erfelijke ziekte van musculoskeletaal systeem erfelijke ziekte van tractus locomotorius

Id	363212003
Status	Defined

Finding site

Structure of musculoskeletal system

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

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46,XX disorder of sex development with skeletal anomalies syndrome

8q13 microdeletion syndrome

8q24.3 microdeletion syndrome

Aase Smith type 1 syndrome

Absent radius, anogenital anomalies syndrome

Absent thumb with short stature and immunodeficiency syndrome

Absent tibia, polydactyly, arachnoid cyst syndrome

Achondroplasia1

Acrocapitofemoral dysplasia

Acrocephalopolysyndactyly type II

Acrocephalopolysyndactyly type IV

Acrocephalosyndactyly type I

Acrocephalosyndactyly type V3

Acrocraniofacial dysostosis

Acrofacial dysostosis Catania type

Acrofacial dysostosis Catania type

Acrofacial dysostosis Kennedy Teebi type

Acrofacial dysostosis Kennedy Teebi type

Acrofacial dysostosis Palagonia type

Acrofacial dysostosis Palagonia type

Acrofacial dysostosis Rodriguez type

Acrofacial dysostosis Rodriguez type

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis type 2

Acromesomelic dysplasia Hunter-Thompson type

Acromesomelic dysplasia Maroteaux type

Acromicric dysplasia

Acromicric dysplasia

Acropectoral syndrome

Acropectorovertebral dysplasia

Acrorenal mandibular syndrome

Acrorenoocular syndrome

Actin accumulation myopathy

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

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

Agnathia, holoprosencephaly, situs inversus syndrome

Allan-Herndon-Dudley syndrome

Alpha-B crystallin-related late-onset myopathy

Amish nemaline myopathy

Amyotonia congenita

Andersen Tawil syndrome

Aneurysm osteoarthritis syndrome

Angel-shaped phalangoepiphyseal dysplasia

Aniridia and absent patella syndrome

Ankylosing vertebral hyperostosis with tylosis syndrome

Anterior maxillary protrusion, strabismus, intellectual disability syndrome

Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome

Arthrogryposis and ectodermal dysplasia syndrome

Aspartylglucosaminuria

Asymmetric crying face association

Atelosteogenesis3

Auriculo-condylar syndrome

Autoimmune interstitial lung disease, arthritis syndrome

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal dominant centronuclear myopathy

Autosomal dominant centronuclear myopathy

Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome

Autosomal dominant hypophosphatemic bone disease2

Autosomal dominant hypophosphatemic bone disease2

Autosomal dominant mandibular prognathism

Autosomal dominant mitochondrial myopathy with exercise intolerance

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

Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

Autosomal dominant progressive external ophthalmoplegia5

Autosomal dominant spondylocostal dysostosis

Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive distal osteolysis syndrome

Autosomal recessive hypophosphatemic bone disease1

Autosomal recessive hypophosphatemic bone disease1

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive progressive external ophthalmoplegia

Ballard syndrome

Baller-Gerold syndrome

Benign congenital myopathy1

Benign congenital myopathy1

Blomstrand dysplasia

Bone dysplasia lethal Holmgren type

Brachydactyly and arterial hypertension syndrome

Brachydactyly and distal symphalangism syndrome

Brachydactyly and preaxial hallux varus syndrome

Brachydactyly syndrome type B1

Brachydactyly type A1

Brachydactyly type A3

Brachydactyly type A4

Brachydactyly type A6

Brachydactyly type B2

Brachydactyly type D

Brachydactyly, short stature, retinitis pigmentosa syndrome

Brachytelephalangic chondrodysplasia punctata

Branchiooculofacial syndrome

Campomelia Cumming type

Camptodactyly and tall stature with scoliosis and hearing loss syndrome

Camptodactyly syndrome Guadalajara type 1

Camptodactyly syndrome Guadalajara type 2

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome

Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

Cardiocranial syndrome Pfeiffer type

Cardiomyopathy with cataract and hip spine disease syndrome

Cardiospondylocarpofacial syndrome

Carpotarsal osteochondromatosis

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

Catel Manzke syndrome

Caveolin 3 related distal myopathy

Caveolin 3 related distal myopathy

Central core disease2

Cerebro-facio-thoracic dysplasia

Cerebrofacioarticular syndrome

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset nemaline myopathy

Childhood-onset spasticity with hyperglycinemia

Chitty Hall Baraitser syndrome

Choanal atresia with radial ray hypoplasia

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

Chondrodysplasia punctata Toriello type

Chondrodysplasia punctata, X-linked dominant type

Chondrodysplasia punctata, X-linked recessive type

Chondrodysplasia with disorder of sex development syndrome

Chondrodysplasia with joint dislocations gPAPP type

Cleft palate with short stature and vertebral anomaly syndrome

Cleidocranial dysostosis

Cleidorhizomelic syndrome

Cloverleaf skull with multiple congenital anomalies syndrome

Colobomatous microphthalmia, rhizomelic dysplasia syndrome

Combined immunodeficiency with faciooculoskeletal anomalies syndrome

Combined oxidative phosphorylation defect type 30

Complex lethal osteochondrodysplasia

Congenital bowing of long bone2

Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome

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

Congenital dystrophia brevicollis

Congenital fiber-type disproportion myopathy due to ACTA1 mutation2

Congenital fiber-type disproportion myopathy due to MYH7 mutation

Congenital fiber-type disproportion myopathy due to TPM3 mutation2

Congenital fiber-type disproportion myopathy due to ZAK mutation

Congenital hypoplasia of ulna and intellectual disability syndrome

Congenital hypoplasia of ulna and split foot syndrome

Congenital lethal myopathy Compton North type

Congenital myopathy with internal nuclei and atypical cores

Congenital myopathy with myasthenic-like onset

Congenital myotonia, autosomal dominant form

Congenital myotonia, autosomal dominant form

Congenital myotonia, autosomal recessive form

Congenital myotonia, autosomal recessive form

Congenital short costocoracoid ligament

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Cono-spondylar dysplasia

Contracture with ectodermal dysplasia and orofacial cleft syndrome

Coxoauricular syndrome

Coxopodopatellar syndrome

Craniodiaphyseal dysplasia

Craniofacial conodysplasia syndrome

Craniofacial conodysplasia syndrome

Craniofacial dysplasia osteopenia syndrome

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

Craniofacial dyssynostosis syndrome

Craniofrontonasal dysplasia

Craniolenticulosutural dysplasia

Craniomicromelic syndrome

Cranioosteoarthropathy

Craniosynostosis and dental anomalies syndrome

Craniosynostosis and intracranial calcification syndrome

Craniosynostosis Boston type

Craniosynostosis fibular aplasia syndrome

Craniosynostosis Philadelphia type

Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome

Craniosynostosis, anal anomaly, porokeratosis syndrome

Crisponi syndrome

Crouzon syndrome1

Cryptomicrotia brachydactyly syndrome

Curry-Hall syndrome

Cutis gyrata syndrome of Beare and Stevenson

Cutis laxa, x-linked

Cutis laxa-corneal clouding-oligophrenia syndrome

Cyprus facial neuromusculoskeletal syndrome

Cystinuria, type 12

Czech dysplasia metatarsal type

Dacryocystitis and osteopoikilosis syndrome

Deafness, encephaloneuropathy, obesity, valvulopathy syndrome

Dermatoosteolysis Kirghizian type

Desbuquois syndrome

Desmin-related myofibrillar myopathy

Desmosterolosis

Diaphanospondylodysostosis

Diaphragmatic defect, limb deficiency, skull defect syndrome

Diaphragmatic defect, limb deficiency, skull defect syndrome

Diaphyseal dysplasia

Diastrophic dysplasia

Digital extensor muscle aplasia with polyneuropathy

Dislocation of hip and facial dysmorphism syndrome

Distal arthrogryposis type 4

Distal limb deficiency with micrognathia syndrome

DK phocomelia syndrome

DNA2-related mitochondrial DNA deletion syndrome

Doughnut lesion of calvaria and bone fragility syndrome

Duane anomaly, myopathy, scoliosis syndrome

Duane anomaly, myopathy, scoliosis syndrome

Dyggve-Melchior-Clausen syndrome

Dyschondrosteosis and nephritis syndrome

Dysmorphic sialidosis, infantile form

Dysostosis multiplex group7

Dysplasia epiphysealis hemimelica

Dyssegmental dysplasia Silverman Handmaker type

Early-onset calcifying leukoencephalopathy, skeletal dysplasia

Ectrodactyly polydactyly syndrome

Ehlers-Danlos syndrome19

Endocrine-cerebro-osteodysplasia syndrome

Enlarged parietal foramina

Epilepsy, microcephaly, skeletal dysplasia syndrome

Exostosis, anetoderma, brachydactyly type E syndrome

Extensor tendons of finger anomalies

External auditory canal atresia, vertical talus, hypertelorism syndrome

Eye defects, arachnodactyly, cardiopathy syndrome

Familial avascular necrosis of femoral head

Familial calcium pyrophosphate dihydrate crystal deposition disease

Familial chondromalacia of patella

Familial digital arthropathy and brachydactyly syndrome

Familial dyskinesia and facial myokymia

Familial hypokalemic periodic paralysis

Familial osteochondritis dissecans

Familial scaphocephaly syndrome McGillivray type

Familial Scheuermann disease

Familial x-linked hypophosphatemic vitamin D refractory rickets1

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal infantile hypertonic myofibrillar myopathy

FGFR2-related bent bone dysplasia

Fibrochondrogenesis

Fibular aplasia and complex brachydactyly

Fibular aplasia and ectrodactyly syndrome

Filippi syndrome

Fine Lubinsky syndrome

Floating-Harbor syndrome

Fountain syndrome

Francois syndrome

Frank-Ter Haar syndrome

Freeman-Sheldon syndrome

Frontonasal dysplasia with alopecia and genital anomaly syndrome

Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome

Fuhrmann syndrome

Genetically determined myasthenia6

Genochondromatosis type 1

Genochondromatosis type 2

Geroderma osteodysplastica

Ghosal hematodiaphyseal dysplasia

Glycogen storage disease due to lactate dehydrogenase deficiency

Glycogen storage disease, muscular form5

Glycogen storage disease, muscular form5

Glycogen synthase deficiency1

Glycogen synthase deficiency1

Gnathodiaphyseal dysplasia

Goldblatt syndrome

Goldenhar syndrome

Gollop syndrome

Gollop Wolfgang complex

Granulomatous inflammatory arthritis, dermatitis and uveitis, familial

Guttmacher syndrome

Hallux varus, preaxial polysyndactyly syndrome

Haspeslagh Fryns Muelenaere syndrome

Heart defect and limb shortening syndrome

Heart-hand syndrome Slovenian type

Hereditary acroosteolysis3

Hereditary arterial and articular multiple calcification syndrome

Hereditary camptodactyly2

Hereditary continuous muscle fiber activity

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

Hereditary inclusion body myopathy type 4

Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome

Hereditary inclusion body myositis

Hereditary myopathy associated with hydrocephalus

Hereditary myopathy with early respiratory failure

Hereditary myopathy with early respiratory failure

Hereditary progressive muscular dystrophy11

Hereditary rippling muscle disease

High bone mass osteogenesis imperfecta

Hirschsprung disease with nail hypoplasia and dysmorphism

Holt-Oram syndrome

Holzgreve syndrome

Horizontal gaze palsy with progressive scoliosis

Hunter McAlpine craniosynostosis syndrome

Huntington's chorea4

Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome

Hydrocephalus, tall stature, joint laxity syndrome

Hypermobility syndrome4

Hypertelorism Teebi type

Hypertelorism with microtia and facial clefting syndrome

Hypertelorism, preauricular sinus, punctual pits, deafness syndrome

Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

Hypomandibular faciocranial dysostosis

Hypoplasia and coloboma of alar cartilage with telecanthus syndrome

Hypoplastic tibia and postaxial polydactyly syndrome

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

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

Inclusion body myopathy 2

Inclusion body myopathy 2

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

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

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

Infantile systemic hyalinosis

Intellectual disability with cataract and kyphosis syndrome

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Intellectual disability, developmental delay, contracture syndrome

Intellectual disability, epilepsy, extrapyramidal syndrome

Intellectual disability, myopathy, short stature, endocrine defect syndrome

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

Intermediate nemaline myopathy

Isolated osteopoikilosis

Jackson-Weiss syndrome

Jarcho-Levin syndrome

Jeune thoracic dystrophy1

Juberg Hayward syndrome

Juvenile hyaline fibromatosis

Karsch Neugebauer syndrome

Keipert syndrome

Keutel syndrome

King Denborough syndrome

Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome

Kniest dysplasia

Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome

Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome

Larsen syndrome

Larsen-like syndrome B3GAT3 type

Laryngeal abductor paralysis with intellectual disability syndrome

Late-onset distal myopathy Markesbery Griggs type

Leigh syndrome with nephrotic syndrome

Lethal congenital contracture syndrome type 2

Lethal congenital contracture syndrome type 5

Lethal infantile mitochondrial myopathy

Lethal Kniest-like syndrome

Lethal Larsen-like syndrome

Lethal multiple pterygium syndrome

Lethal neonatal spasticity, epileptic encephalopathy syndrome

Lethal occipital encephalocele, skeletal dysplasia syndrome

Lethal recessive chondrodysplasia

Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

Liebenberg syndrome

Lipid storage myopathy3

Lipid storage myopathy3

Lipodystrophy, intellectual disability, deafness syndrome

Lipodystrophy, intellectual disability, deafness syndrome

Lissencephaly syndrome Norman Roberts type

Lissencephaly type 3 metacarpal bone dysplasia syndrome

Long thumb brachydactyly syndrome

Lowry MacLean syndrome

MacDermot Winter syndrome

Macrocephaly, intellectual disability, left ventricular non compaction syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Macular coloboma, cleft palate, hallux valgus syndrome

Majeed syndrome

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

Malignant hyperthermia with arthrogryposis and torticollis syndrome

Mammary digital nail syndrome

Mammary digital nail syndrome

Mandibular hypoplasia, deafness, progeroid syndrome

Mandibuloacral dysostosis2

Marshall-Smith syndrome

Maternally inherited mitochondrial cardiomyopathy

Maternally inherited mitochondrial cardiomyopathy and myopathy

Maternally inherited mitochondrial myopathy

Melorheostosis with osteopoikilosis

Menkes kinky-hair syndrome

Menkes kinky-hair syndrome

Mesomelic dysplasia Kantaputra type

Metabolic myopathy due to lactate transporter defect

Metachondromatosis

Metaphyseal chondrodysplasia, McKusick type

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Metaphyseal dysplasia Braun Tinschert type

Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

Microbrachycephaly, ptosis, cleft lip syndrome

Microcephalic osteodysplastic dysplasia Saul Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalus with brachydactyly and kyphoscoliosis syndrome

Microcephaly with cervical spine fusion anomaly

Microspherophakia with metaphyseal dysplasia syndrome

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis

Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form1

Mitochondrial DNA depletion syndrome encephalomyopathic form5

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Mitochondrial myopathy with sideroblastic anemia syndrome

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Mitochondrial neurogastrointestinal encephalomyopathy syndrome

Morava Mehes syndrome

Morquio syndrome2

Muenke syndrome

Multicentric carpotarsal osteolysis syndrome

Multicentric osteolysis nodulosis arthropathy spectrum

Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital exostosis15

Multiple osteochondroma

Muscle AMP deaminase deficiency

Muscle AMP deaminase deficiency

Muscle and heart glycogen synthase deficiency

Muscle filaminopathy

Muscle L-lactate dehydrogenase deficiency

Muscle phosphoglycerate mutase deficiency

Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus

Muscular dystrophy Selcen type

Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome

Myoclonic epilepsy with ragged red fibers

Myopathy due to calsequestrin and SERCA1 protein overload

Myopathy with deficiency of iron-sulfur cluster assembly enzyme

Myopathy with deficiency of iron-sulfur cluster assembly enzyme

Nail-patella syndrome

Nathalie syndrome

Native American myopathy

NEK9-related lethal skeletal dysplasia

Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome

Nestor Guillermo progeria syndrome

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

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

Neurogenic scapuloperoneal syndrome Kaeser type

Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency2

Non dystrophic myotonia

Non dystrophic myotonia

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

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

Oculootoradial syndrome

Oliver syndrome

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

Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

Osteocraniostenosis

Osteofibrous dysplasia

Osteogenesis imperfecta type 5

Osteogenesis imperfecta type I2

Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts

Osteogenesis imperfecta, type IV B

Osteopathia striata, pigmentary dermopathy, white forelock syndrome

Osteopenia, intellectual disability, sparse hair syndrome

Osteopetrosis10

Osteoporosis and oculocutaneous hypopigmentation syndrome

Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

Osteosclerosis3

Osteosclerosis, developmental delay, craniosynostosis syndrome

Oto-onycho-peroneal syndrome

Otopalatodigital syndrome spectrum disorder5

Otospondylomegaepiphyseal dysplasia

Pachydermoperiostosis syndrome

Pacman dysplasia

Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome

Papillon-Lefèvre syndrome

Parana hard skin syndrome

Parastremmatic dwarfism

Parietal foramina with clavicular hypoplasia

Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome

Patterson Stevenson Fontaine syndrome

Pelvic dysplasia, arthrogryposis of lower limbs syndrome

Pelvis shoulder dysplasia

Pelviscapular dysplasia

Peripheral dysostosis

Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome

Poikiloderma, alopecia, retrognathism, cleft palate syndrome

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polydactyly of triphalangeal thumb1

Polyglucosan body myopathy type 1

Polyglucosan body myopathy type 2

Polyostotic fibrous dysplasia of bone

Postaxial polydactyly, dental, vertebral anomalies syndrome

Postaxial tetramelic oligodactyly

Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome

Potassium aggravated myotonia3

Potassium aggravated myotonia3

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Progressive external ophthalmoplegia, myopathy, emaciation syndrome

Progressive myositis ossificans

Progressive myositis ossificans

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

Proteus syndrome1

Proximal myopathy with extrapyramidal signs

Prune belly syndrome2

Prune belly syndrome2

Pseudodiastrophic dysplasia

Pseudohypoparathyroidism type I A

Puerto Rican infant hypotonia syndrome

Puerto Rican infant hypotonia syndrome

Pyknoachondrogenesis

Pyle metaphyseal dysplasia

Pyogenic arthritis, pyoderma gangrenosum, acne syndrome

QRICH1-related intellectual disability, chondrodysplasia syndrome

Radial aplasia-thrombocytopenia syndrome

Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

Raine dysplasia

Reardon Hall Slaney syndrome

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

Reinhardt Pfeiffer mesomelic dysplasia

Retinal detachment and occipital encephalocele

Rhizomelic chondrodysplasia punctata syndrome3

Rhizomelic syndrome Urbach type

Richieri Costa-da Silva syndrome

Robinow syndrome2

Roifman syndrome

Rolland-Debuqois syndrome

Saethre-Chotzen syndrome

Saito Kuba Tsuruta syndrome

Saldino-Mainzer dysplasia

Schimke immuno-osseous dysplasia

Schmitt Gillenwater Kelly syndrome

Scholte syndrome

Schwartz-Jampel syndrome

Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome

Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome

Seckel syndrome

Seizures, scoliosis, macrocephaly syndrome

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome

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

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

Severe myopia, generalized joint laxity, short stature syndrome

Severe X-linked mitochondrial encephalomyopathy

Severe X-linked mitochondrial encephalomyopathy

Severe X-linked myotubular myopathy

Short fifth metacarpal insulin resistance syndrome

Short rib polydactyly syndrome4

Short stature locking fingers syndrome

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

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

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

Short stature, brachydactyly, obesity, global developmental delay syndrome

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

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

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

Short tarsus with absence of lower eyelashes syndrome

Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

Shprintzen Goldberg craniosynostosis syndrome

Shwachman syndrome

SIX2-related frontonasal dysplasia

Skeletal dysplasia brachydactyly syndrome

Skeletal dysplasia with epilepsy and short stature syndrome

Skeletal dysplasia with intellectual disability syndrome

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

Smith McCort dysplasia

Spastic paraparesis and deafness

Spastic paraparesis and deafness

Spastic paraplegia with Paget disease of bone syndrome

Spheroid body myopathy

Splenogonadal fusion, limb defect, micrognathia syndrome

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

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondylo-ocular syndrome

Spondylocamptodactyly syndrome

Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome

Spondyloenchondrodysplasia with immune dysregulation

Spondyloenchondromatosis1

Spondyloepimetaphyseal dysplasia aggrecan type

Spondyloepimetaphyseal dysplasia anauxetic type

Spondyloepimetaphyseal dysplasia Genevieve type

Spondyloepimetaphyseal dysplasia Handigodu type

Spondyloepimetaphyseal dysplasia Irapa type

Spondyloepimetaphyseal dysplasia matrilin-3 type

Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia PAPSS2 type

Spondyloepimetaphyseal dysplasia Shohat type

Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome

Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome

Spondyloepiphyseal dysplasia Cantu type

Spondyloepiphyseal dysplasia Kimberley type

Spondyloepiphyseal dysplasia MacDermot type

Spondyloepiphyseal dysplasia Maroteaux type

Spondyloepiphyseal dysplasia Reardon type

Spondyloepiphyseal dysplasia Stanescu type

Spondyloepiphyseal dysplasia tarda2

Spondyloepiphyseal dysplasia with congenital joint dislocations1

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

Spondylometaphyseal dysplasia11

Spondyloperipheral dysplasia1

Sterile multifocal osteomyelitis with periostitis and pustulosis

Stewart-Morel-Morgagni syndrome

Stickler syndrome3

Stickler syndrome type 3

Sugarman brachydactyly

Summitt syndrome

Symphalangism Cushing type

Symphalangism with multiple anomalies of hands and feet syndrome

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

Tall stature, scoliosis, macrodactyly of great toe syndrome

Talo-patello-scaphoid osteolysis syndrome

Tarsal-carpal coalition syndrome

Teebi Shaltout syndrome

Tel Hashomer camptodactyly syndrome

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Tetramelic monodactyly

Thickened earlobe with conductive deafness syndrome

Thoracic dysplasia and hydrocephalus syndrome

Thoracolaryngopelvic dysplasia

Thoracomelic dysplasia

Thrombocythemia with distal limb defect

Thumb stiffness, brachydactyly, intellectual disability syndrome

Tibial aplasia and ectrodactyly syndrome

TMEM70 related mitochondrial encephalo-cardio-myopathy

TMEM70 related mitochondrial encephalo-cardio-myopathy

Torticollis, keloids, cryptorchidism, renal dysplasia syndrome

Treacher Collins syndrome

Trichorhinophalangeal syndrome type 1 and 3

Triglyceride storage disease with ichthyosis

Triglyceride storage disease with ichthyosis

Trigonocephaly with bifid nose and acral anomaly syndrome

Trigonocephaly with broad thumb syndrome

Trigonocephaly, short stature, developmental delay syndrome

Triphalangeal thumb and dislocation of patella syndrome

Triphalangeal thumb and polysyndactyly syndrome

Triphalangeal thumb with brachyectrodactyly syndrome

Typical nemaline myopathy

Ulna metaphyseal dysplasia syndrome

Upington disease

Van den Bosch syndrome

Velofacioskeletal syndrome

Vitamin D-dependent rickets2

White forelock with malformations syndrome

Whyte Hemingway carpal tarsal phalangeal osteolyses

X-linked calvarial hyperostosis

X-linked dominant chondrodysplasia Chassaing Lacombe type

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome

X-linked intellectual disability with ataxia and apraxia syndrome

X-linked intellectual disability with cubitus valgus and dysmorphism syndrome

X-linked intellectual disability with plagiocephaly syndrome

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

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

X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis

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

X-linked myopathy with excessive autophagy

X-linked myopathy with excessive autophagy

X-linked osteoporosis with fractures

X-linked parkinsonism with spasticity syndrome

X-linked spasticity, intellectual disability, epilepsy syndrome

X-linked spondyloepimetaphyseal dysplasia

Zechi Ceide syndrome