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Disease association ontology term - MONDO:0002081 - musculoskeletal system disorder

Term summary

ID
MONDO:0002081
Name
musculoskeletal system disorder
Ontology or CV name
Disease association
Definition
A disease involving the musculoskeletal system.

Parents

Annotation

Disease association

MONDO:8000015 - 46,XY sex reversal 11

References:

Genes:

MONDO:0008701 - achondrogenesis type IA

References:

Genes:

MONDO:0010966 - achondrogenesis type IB

References:

Genes:

MONDO:0014651 - acrofacial dysostosis Cincinnati type

References:

Genes:

MONDO:0100044 - acrofrontofacionasal dysostosis 1

References:

Genes:

MONDO:0018874 - acute myeloid leukemia

References:

Genes:

MONDO:0013895 - Adams-Oliver syndrome 3

References:

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MONDO:0012282 - Al-Gazali syndrome

References:

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MONDO:0100084 - alpha-actinopathy

References:

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MONDO:0030894 - AMED syndrome, digenic

References:

Genes:

MONDO:0054560 - anauxetic dysplasia 1

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Genes:

MONDO:0054561 - anauxetic dysplasia 2

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Genes:

MONDO:0030019 - anauxetic dysplasia 3

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Genes:

MONDO:0008726 - Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

References:

Genes:

MONDO:0030847 - arthrogryposis, distal, type 1C

References:

Genes:

MONDO:0032751 - arthrogryposis, distal, type 2B3

References:

Genes:

MONDO:0009727 - atelosteogenesis type II

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

MONDO:0014248 - autism spectrum disorder - epilepsy - arthrogryposis syndrome

References:

Genes:

MONDO:0013851 - autosomal dominant aplasia and myelodysplasia

References:

Genes:

MONDO:0014558 - autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

References:

Genes:

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

References:

Genes:

MONDO:0012034 - autosomal dominant limb-girdle muscular dystrophy type 1F

References:

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

References:

Genes:

MONDO:0008156 - autosomal dominant osteopetrosis 2

References:

Genes:

MONDO:0018163 - autosomal recessive cutis laxa type 2A

References:

Genes:

MONDO:0013051 - autosomal recessive cutis laxa type 2B

References:

Genes:

MONDO:0027462 - autosomal recessive cutis laxa type 2C

References:

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MONDO:0027451 - autosomal recessive cutis laxa type 2D

References:

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MONDO:0009486 - autosomal recessive Kenny-Caffey syndrome

References:

Genes:

MONDO:0012248 - autosomal recessive limb-girdle muscular dystrophy type 2K

References:

Genes:

MONDO:0013162 - autosomal recessive limb-girdle muscular dystrophy type 2N

References:

Genes:

MONDO:0014142 - autosomal recessive limb-girdle muscular dystrophy type 2T

References:

Genes:

MONDO:0009815 - autosomal recessive osteopetrosis 1

References:

Genes:

MONDO:0012676 - autosomal recessive osteopetrosis 4

References:

Genes:

MONDO:0013223 - autosomal recessive spondylometaphyseal dysplasia, Megarbane type

References:

Genes:

MONDO:0009039 - Baller-Gerold syndrome

References:

Genes:

MONDO:0014887 - bone marrow failure syndrome 3

References:

Genes:

MONDO:0002629 - bone osteosarcoma

References:

Genes:

MONDO:0010977 - Brody myopathy

References:

Genes:

MONDO:0009806 - Bruck syndrome 1

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Genes:

MONDO:0008157 - Buschke-Ollendorff syndrome

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Genes:

MONDO:0011451 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

References:

Genes:

MONDO:0014051 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

References:

Genes:

MONDO:0014667 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

References:

Genes:

MONDO:0014668 - cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

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Genes:

MONDO:0015280 - cardiofaciocutaneous syndrome

References:

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

References:

Genes:

MONDO:0014112 - cardiofaciocutaneous syndrome 2

References:

Genes:

MONDO:0014113 - cardiofaciocutaneous syndrome 3

References:

Genes:

MONDO:0014114 - cardiofaciocutaneous syndrome 4

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Genes:

MONDO:0032592 - cardiomyopathy, dilated, 2c

References:

Genes:

MONDO:0030300 - cardiomyopathy, dilated, 2D

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Genes:

MONDO:0859358 - cardiomyopathy, dilated, 2H

References:

Genes:

MONDO:0957545 - cardiomyopathy, dilated, 2I

References:

Genes:

MONDO:0030330 - cardiomyopathy, familial restrictive, 6

References:

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

Genes:

MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

References:

Genes:

MONDO:0009595 - cartilage-hair hypoplasia

References:

Genes:

MONDO:0014455 - cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

References:

Genes:

MONDO:0014507 - Catel-Manzke syndrome

References:

Genes:

MONDO:0018947 - centronuclear myopathy

References:

Genes:

MONDO:0007301 - cerebrocostomandibular syndrome

References:

Genes:

MONDO:0010621 - CHILD syndrome

References:

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MONDO:0010879 - CODAS syndrome

References:

Genes:

MONDO:0015452 - Coffin-Siris syndrome

References:

Genes:

MONDO:0007617 - Coffin-Siris syndrome 1

References:

Genes:

MONDO:0032912 - Coffin-Siris syndrome 11

References:

Genes:

MONDO:0014838 - Coffin-Siris syndrome 5

References:

Genes:

MONDO:0032702 - Coffin-Siris syndrome 8

References:

Genes:

MONDO:0014609 - cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

References:

Genes:

MONDO:0007204 - Cole-Carpenter syndrome 1

References:

Genes:

MONDO:0014573 - Cole-Carpenter syndrome 2

References:

Genes:

MONDO:0014821 - complex lethal osteochondrodysplasia

References:

Genes:

MONDO:0013116 - congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

References:

Genes:

MONDO:0014023 - congenital muscular dystrophy with intellectual disability and severe epilepsy

References:

Genes:

MONDO:0014896 - congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

References:

Genes:

MONDO:0859264 - congenital myopathy 11

References:

Genes:

MONDO:0957224 - congenital myopathy 21 with early respiratory failure

References:

Genes:

MONDO:0979229 - congenital myopathy 26

References:

Genes:

MONDO:0980756 - congenital myopathy 28 with rigid spine

References:

Genes:

MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant

References:

Genes:

MONDO:0859517 - congenital myopathy 2b, severe infantile, autosomal recessive

References:

Genes:

MONDO:0859523 - congenital myopathy 2c, severe infantile, autosomal dominant

References:

Genes:

MONDO:0800341 - congenital myopathy 4A, autosomal dominant

References:

Genes:

MONDO:0012239 - congenital myopathy 4B, autosomal recessive

References:

Genes:

MONDO:0008409 - congenital myopathy 7A, myosin storage, autosomal dominant

References:

Genes:

MONDO:0034109 - congenital myopathy with reduced type 2 muscle fibers

References:

Genes:

MONDO:0008338 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

References:

Genes:

MONDO:0007387 - Cornelia de Lange syndrome 1

References:

Genes:

MONDO:0010370 - Cornelia de Lange syndrome 2

References:

Genes:

MONDO:0012555 - Cornelia de Lange syndrome 3

References:

Genes:

MONDO:0013864 - Cornelia de Lange syndrome 4

References:

Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0979883 - cranioectodermal dysplasia 6

References:

Genes:

MONDO:0958175 - craniofacial microsomia 1

References:

Genes:

MONDO:0009050 - Cushing disease due to pituitary adenoma

References:

Genes:

MONDO:0700387 - dentin dysplasia, type IB

References:

Genes:

MONDO:0859571 - diaphragmatic hernia 4, with cardiovascular defects

References:

Genes:

MONDO:0007205 - diaphyseal medullary stenosis-bone malignancy syndrome

References:

Genes:

MONDO:0009107 - diastrophic dysplasia

References:

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MONDO:0005021 - dilated cardiomyopathy

References:

Genes:

MONDO:0012808 - dilated cardiomyopathy 1AA

References:

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MONDO:0013198 - dilated cardiomyopathy 1EE

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Genes:

MONDO:0013339 - dilated cardiomyopathy 1GG

References:

Genes:

MONDO:0014073 - dilated cardiomyopathy 1II

References:

Genes:

MONDO:0013261 - dilated cardiomyopathy 1R

References:

Genes:

MONDO:0013262 - dilated cardiomyopathy 1S

References:

Genes:

MONDO:0012556 - DK1-congenital disorder of glycosylation

References:

Genes:

MONDO:0013049 - DPM3-congenital disorder of glycosylation

References:

Genes:

MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type

References:

Genes:

MONDO:0012980 - endocrine-cerebro-osteodysplasia syndrome

References:

Genes:

MONDO:0014801 - even-plus syndrome

References:

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MONDO:0019391 - Fanconi anemia

References:

Genes:

MONDO:0013248 - Fanconi anemia complementation group O

References:

Genes:

MONDO:0013499 - Fanconi anemia complementation group P

References:

Genes:

MONDO:0014108 - Fanconi anemia complementation group Q

References:

Genes:

MONDO:0014986 - Fanconi anemia complementation group R

References:

Genes:

MONDO:0014987 - Fanconi anemia complementation group U

References:

Genes:

MONDO:0014985 - Fanconi anemia complementation group V

References:

Genes:

MONDO:0015487 - fatal infantile encephalocardiomyopathy

References:

Genes:

MONDO:0013472 - fatal infantile hypertonic myofibrillar myopathy

References:

Genes:

MONDO:0010912 - fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

References:

Genes:

MONDO:0009579 - Frank-Ter Haar syndrome

References:

Genes:

MONDO:0010027 - free sialic acid storage disease, infantile form

References:

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes:

MONDO:0009737 - galactosialidosis

References:

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MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0017694 - glycogen storage disease due to acid maltase deficiency, infantile onset

References:

Genes:

MONDO:0018485 - glycogen storage disease due to acid maltase deficiency, late-onset

References:

Genes:

MONDO:0009290 - glycogen storage disease II

References:

Genes:

MONDO:0008974 - Greenberg dysplasia

References:

Genes:

MONDO:0009706 - hereditary myopathy with lactic acidosis due to ISCU deficiency

References:

Genes:

MONDO:0010606 - hernia, anterior diaphragmatic

References:

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MONDO:0007767 - hyperparathyroidism 1

References:

Genes:

MONDO:0007768 - hyperparathyroidism 2 with jaw tumors

References:

Genes:

MONDO:0005045 - hypertrophic cardiomyopathy

References:

Genes:

MONDO:0008647 - hypertrophic cardiomyopathy 1

References:

Genes:

MONDO:0012112 - hypertrophic cardiomyopathy 10

References:

Genes:

MONDO:0012799 - hypertrophic cardiomyopathy 11

References:

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MONDO:0013197 - hypertrophic cardiomyopathy 14

References:

Genes:

MONDO:0010946 - hypertrophic cardiomyopathy 6

References:

Genes:

MONDO:0012111 - hypertrophic cardiomyopathy 8

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0010358 - hypophosphatemic rickets, X-linked recessive

References:

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

References:

Genes:

MONDO:0000507 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

References:

Genes:

MONDO:0008178 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

References:

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MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

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MONDO:0013820 - intellectual disability, autosomal dominant 15

References:

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MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0032684 - intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency

References:

Genes:

MONDO:0009867 - lethal congenital glycogen storage disease of heart

References:

Genes:

MONDO:0013740 - lethal occipital encephalocele-skeletal dysplasia syndrome

References:

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MONDO:0012316 - Majeed syndrome

References:

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MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

References:

Genes:

MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

References:

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MONDO:0011246 - megaconial type congenital muscular dystrophy

References:

Genes:

MONDO:0007970 - melorheostosis

References:

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MONDO:0009598 - metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

References:

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MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

References:

Genes:

MONDO:0019407 - microcephalic osteodysplastic dysplasia, Saul-Wilson type

References:

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MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

References:

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MONDO:0014031 - microcephalic primordial dwarfism, Alazami type

References:

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MONDO:0030935 - mitochondrial complex 2 deficiency, nuclear type 2

References:

Genes:

MONDO:0030937 - mitochondrial complex 2 deficiency, nuclear type 3

References:

Genes:

MONDO:0030974 - mitochondrial complex 2 deficiency, nuclear type 4

References:

Genes:

MONDO:0100294 - mitochondrial complex II deficiency, nuclear type 1

References:

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

Genes:

MONDO:0020714 - mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

References:

Genes:

MONDO:0044714 - mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

References:

Genes:

MONDO:0009661 - mucopolysaccharidosis type 6

References:

Genes:

MONDO:0015012 - mucopolysaccharidosis-plus syndrome

References:

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MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

References:

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MONDO:0014165 - multiple congenital anomalies-hypotonia-seizures syndrome 3

References:

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MONDO:0009189 - multiple epiphyseal dysplasia type 4

References:

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MONDO:0007908 - multiple symmetric lipomatosis

References:

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MONDO:0020121 - muscular dystrophy

References:

Genes:

MONDO:0009682 - muscular dystrophy, congenital, with rapid progression

References:

Genes:

MONDO:0957270 - muscular dystrophy, limb-girdle, autosomal recessive 28

References:

Genes:

MONDO:0009364 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

References:

Genes:

MONDO:0014140 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

References:

Genes:

MONDO:0013154 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

References:

Genes:

MONDO:0033556 - muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

References:

Genes:

MONDO:0013159 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

References:

Genes:

MONDO:0014141 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

References:

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MONDO:0013160 - muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

References:

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MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

References:

Genes:

MONDO:0008050 - MYH7-related skeletal myopathy

References:

Genes:

MONDO:0030927 - myofibrillar myopathy 11

References:

Genes:

MONDO:0012130 - myofibrillar myopathy 2

References:

Genes:

MONDO:0014220 - myopathy due to myoadenylate deaminase deficiency

References:

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MONDO:0009703 - myopathy with abnormal lipid metabolism

References:

Genes:

MONDO:0009709 - myopathy, centronuclear, 2

References:

Genes:

MONDO:0032852 - myopathy, congenital, with structured cores and z-line abnormalities

References:

Genes:

MONDO:0014877 - myopathy, distal, 5

References:

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MONDO:0032853 - myopathy, distal, 6, adult-onset, autosomal dominant

References:

Genes:

MONDO:0024553 - myopathy, lactic acidosis, and sideroblastic anemia 1

References:

Genes:

MONDO:0013307 - myopathy, lactic acidosis, and sideroblastic anemia 2

References:

Genes:

MONDO:0859168 - myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

References:

Genes:

MONDO:0976133 - myopathy, myofibrillar, 13, with rimmed vacuoles

References:

Genes:

MONDO:0009708 - myopathy, myosin storage, autosomal recessive

References:

Genes:

MONDO:0011577 - myopathy, proximal, and ophthalmoplegia

References:

Genes:

MONDO:0011266 - myotonic dystrophy type 2

References:

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MONDO:0007943 - Nager acrofacial dysostosis

References:

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MONDO:0018958 - nemaline myopathy

References:

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MONDO:0009725 - nemaline myopathy 2

References:

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MONDO:0012538 - nemaline myopathy 7

References:

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MONDO:0018997 - Noonan syndrome

References:

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MONDO:0033669 - Noonan syndrome 13

References:

Genes:

MONDO:0012371 - Noonan syndrome 3

References:

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MONDO:0013186 - Noonan syndrome 6

References:

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MONDO:0054588 - Noonan syndrome-like disorder with loose anagen hair 2

References:

Genes:

MONDO:0958176 - oculopharyngeal muscular dystrophy 1

References:

Genes:

MONDO:0100325 - odontochondrodysplasia 1

References:

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MONDO:0013378 - orofacial cleft 10

References:

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MONDO:0012592 - osteogenesis imperfecta type 11

References:

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MONDO:0009805 - osteogenesis imperfecta type 9

References:

Genes:

MONDO:0030861 - osteogenesis imperfecta, type 21

References:

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MONDO:0957262 - osteopetrosis, autosomal recessive 9

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

References:

Genes:

MONDO:0013968 - PGM1-congenital disorder of glycosylation

References:

Genes:

MONDO:0014526 - polyglucosan body myopathy type 2

References:

Genes:

MONDO:0009903 - postaxial acrofacial dysostosis

References:

Genes:

MONDO:0054862 - premature ovarian failure 15

References:

Genes:

MONDO:0005181 - progressive external ophthalmoplegia

References:

Genes:

MONDO:0024528 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

References:

Genes:

MONDO:0012238 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

References:

Genes:

MONDO:0013117 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

References:

Genes:

MONDO:0009783 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

References:

Genes:

MONDO:0014656 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

References:

Genes:

MONDO:0020845 - progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

References:

Genes:

MONDO:0957993 - progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

References:

Genes:

MONDO:0014800 - progressive scapulohumeroperoneal distal myopathy

References:

Genes:

MONDO:0008318 - Proteus syndrome

References:

Genes:

MONDO:0009955 - rapadilino syndrome

References:

Genes:

MONDO:0018663 - regressive spondylometaphyseal dysplasia

References:

Genes:

MONDO:0008383 - rheumatoid arthritis

References:

Genes:

MONDO:0015776 - rhizomelic chondrodysplasia punctata

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0859203 - rhizomelic dysplasia, Ain-Naz type

References:

Genes:

MONDO:0009998 - Richieri Costa-Pereira syndrome

References:

Genes:

MONDO:0010013 - schneckenbecken dysplasia

References:

Genes:

MONDO:0014991 - Seckel syndrome 10

References:

Genes:

MONDO:0011715 - Seckel syndrome 2

References:

Genes:

MONDO:0014350 - Seckel syndrome 8

References:

Genes:

MONDO:0011835 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

References:

Genes:

MONDO:0014784 - severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

References:

Genes:

MONDO:0014686 - short stature, microcephaly, and endocrine dysfunction

References:

Genes:

MONDO:0013889 - short stature-optic atrophy-Pelger-Huët anomaly syndrome

References:

Genes:

MONDO:0054565 - short-rib thoracic dysplasia 17 with or without polydactyly

References:

Genes:

MONDO:0859173 - sick sinus syndrome 4

References:

Genes:

MONDO:0016576 - split hand-foot malformation

References:

Genes:

MONDO:0019675 - spondyloepimetaphyseal dysplasia with joint laxity

References:

Genes:

MONDO:0010075 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

References:

Genes:

MONDO:0032724 - spondyloepimetaphyseal dysplasia with joint laxity, type 3

References:

Genes:

MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations

References:

Genes:

MONDO:0958006 - spondyloepimetaphyseal dysplasia, Guo-Campeau type

References:

Genes:

MONDO:0032885 - spondyloepimetaphyseal dysplasia, Isidor-Toutain type

References:

Genes:

MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type

References:

Genes:

MONDO:0008471 - spondyloepiphyseal dysplasia congenita

References:

Genes:

MONDO:0010737 - spondyloepiphyseal dysplasia tarda, X-linked

References:

Genes:

MONDO:0979899 - spondyloepiphyseal dysplasia, Holling type

References:

Genes:

MONDO:0009593 - spondylometaphyseal dysplasia, Sedaghatian type

References:

Genes:

MONDO:0012160 - spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

References:

Genes:

MONDO:0010408 - syndactyly-telecanthus-anogenital and renal malformations syndrome

References:

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

References:

Genes:

MONDO:0013870 - TMEM165-congenital disorder of glycosylation

References:

Genes:

MONDO:0013385 - Treacher Collins syndrome 2

References:

Genes:

MONDO:0009558 - Treacher Collins syndrome 3

References:

Genes:

MONDO:0030067 - Treacher Collins syndrome 4

References:

Genes:

MONDO:0002457 - Treacher-Collins syndrome

References:

Genes:

MONDO:0008016 - trismus-pseudocamptodactyly syndrome

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0009192 - Wolcott-Rallison syndrome

References:

Genes:

MONDO:0008685 - Wolff-Parkinson-White syndrome

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0010684 - X-linked myopathy with excessive autophagy

References:

Genes:

MONDO:0010683 - X-linked myotubular myopathy

References:

Genes:

MONDO:0018315 - X-linked osteoporosis with fractures

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0008995 - Yunis-Varon syndrome

References:

Genes:

MONDO:0957595 - Ziegler-Huang syndrome

References:

Genes: