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Disease association ontology term - MONDO:0000426 - autosomal dominant disease

Term summary

ID
MONDO:0000426
Name
autosomal dominant disease
Ontology or CV name
Disease association
Definition
Autosomal dominant form of disease.

Parents

Annotation

Disease association

MONDO:0032751 - arthrogryposis, distal, type 2B3

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Genes:

MONDO:0012196 - autosomal dominant auditory neuropathy 1

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MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

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MONDO:0008368 - autosomal dominant distal renal tubular acidosis

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

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

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

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MONDO:0007424 - autosomal dominant nonsyndromic hearing loss 1

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MONDO:0011350 - autosomal dominant nonsyndromic hearing loss 17

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MONDO:0011480 - autosomal dominant nonsyndromic hearing loss 20

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MONDO:0011568 - autosomal dominant nonsyndromic hearing loss 25

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MONDO:0014603 - autosomal dominant nonsyndromic hearing loss 40

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MONDO:0010915 - autosomal dominant nonsyndromic hearing loss 4A

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MONDO:0014594 - autosomal dominant nonsyndromic hearing loss 67

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MONDO:0014853 - autosomal dominant nonsyndromic hearing loss 70

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MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

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MONDO:0008134 - autosomal dominant optic atrophy, classic form

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MONDO:0008156 - autosomal dominant osteopetrosis 2

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MONDO:0000447 - autosomal dominant polycystic liver disease

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MONDO:0008422 - autosomal dominant sideroblastic anemia

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MONDO:0800445 - Birt-Hogg-Dube syndrome 1

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MONDO:0015285 - Carney complex

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MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

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MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

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MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C

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MONDO:0014074 - Charcot-Marie-Tooth disease dominant intermediate F

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MONDO:0011675 - Charcot-Marie-Tooth Disease, axonal, type 2GG

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MONDO:0030914 - Clark-Baraitser syndrome

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MONDO:0007617 - Coffin-Siris syndrome 1

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

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MONDO:0009026 - Costello syndrome

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MONDO:0008021 - Cowden syndrome 1

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MONDO:0014048 - Cowden syndrome 6

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MONDO:0014802 - Cowden syndrome 7

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MONDO:0014706 - cutis laxa, autosomal dominant 3

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MONDO:0013578 - DYRK1A-related intellectual disability syndrome

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MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

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MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3

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MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

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MONDO:0033258 - hearing loss, autosomal dominant 71

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MONDO:0032911 - hearing loss, autosomal dominant 75

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MONDO:0032917 - hearing loss, autosomal dominant 76

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MONDO:0030058 - hearing loss, autosomal dominant 77

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MONDO:0033668 - hearing loss, autosomal dominant 79

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MONDO:0030719 - hearing loss, autosomal dominant 82

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MONDO:0859524 - hearing loss, autosomal dominant 86

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MONDO:0859525 - hearing loss, autosomal dominant 87

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MONDO:0010043 - hereditary spastic paraplegia 17

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MONDO:0011006 - hereditary spastic paraplegia 9A

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MONDO:0014602 - Houge-Janssens syndrome 1

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MONDO:0014605 - Houge-Janssens syndrome 2

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MONDO:0032823 - intellectual developmental disorder 60 with seizures

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MONDO:0032485 - intellectual developmental disorder 61

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MONDO:0015022 - intellectual developmental disorder with dysmorphic facies and ptosis

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MONDO:0023657 - intellectual developmental disorder, autosomal dominant 65

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MONDO:0030891 - intellectual developmental disorder, autosomal dominant 66

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MONDO:0029465 - intellectual developmental disorder, autosomal dominant 69

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MONDO:0859333 - intellectual developmental disorder, autosomal dominant 70

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MONDO:0957397 - intellectual developmental disorder, autosomal dominant 72

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MONDO:0957536 - intellectual developmental disorder, autosomal dominant 73

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MONDO:0958203 - intellectual developmental disorder, autosomal dominant 74

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MONDO:0979575 - intellectual developmental disorder, autosomal dominant 76

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MONDO:0013805 - intellectual disability, autosomal dominant 13

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MONDO:0013819 - intellectual disability, autosomal dominant 14

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MONDO:0013820 - intellectual disability, autosomal dominant 15

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MONDO:0013821 - intellectual disability, autosomal dominant 16

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MONDO:0014580 - intellectual disability, autosomal dominant 33

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MONDO:0014617 - intellectual disability, autosomal dominant 38

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MONDO:0014842 - intellectual disability, autosomal dominant 41

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MONDO:0014855 - intellectual disability, autosomal dominant 42

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MONDO:0030912 - intellectual disability, autosomal dominant 47

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MONDO:0030916 - intellectual disability, autosomal dominant 50

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MONDO:0030917 - intellectual disability, autosomal dominant 51

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MONDO:0030921 - intellectual disability, autosomal dominant 55, with seizures

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MONDO:0030922 - intellectual disability, autosomal dominant 56

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MONDO:0020847 - intellectual disability, autosomal dominant 58

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MONDO:0013656 - intellectual disability, autosomal dominant 9

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MONDO:0014336 - intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

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MONDO:0011053 - intellectual disability-sparse hair-brachydactyly syndrome

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MONDO:0007619 - isolated congenital adermatoglyphia

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MONDO:0851095 - KINSSHIP syndrome

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MONDO:0018875 - Li-Fraumeni syndrome

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MONDO:0005835 - Lynch syndrome

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MONDO:0007356 - Lynch syndrome 1

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MONDO:0012249 - Lynch syndrome 2

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MONDO:0013699 - Lynch syndrome 4

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MONDO:0013710 - Lynch syndrome 5

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MONDO:0011537 - macrocephaly-autism syndrome

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MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

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

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MONDO:0054593 - microcephaly 18, primary, autosomal dominant

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MONDO:0007918 - microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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MONDO:0008018 - Muir-Torre syndrome

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MONDO:0012130 - myofibrillar myopathy 2

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

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MONDO:0013266 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

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MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

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MONDO:0008025 - neuronopathy, distal hereditary motor, type 2A

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MONDO:0012080 - neuronopathy, distal hereditary motor, type 2B

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MONDO:0013243 - neuronopathy, distal hereditary motor, type 2C

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MONDO:0015353 - neuronopathy, distal hereditary motor, type 5A

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MONDO:0013884 - neuronopathy, distal hereditary motor, type 5B

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MONDO:0030860 - neuronopathy, distal hereditary motor, type 5C

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MONDO:0011879 - neuronopathy, distal hereditary motor, type 7B

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MONDO:0060585 - neuronopathy, distal hereditary motor, type 9

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MONDO:0008133 - optic atrophy 3

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MONDO:0012543 - optic atrophy 5

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MONDO:0007429 - optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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MONDO:0008214 - Pelger-Huet anomaly

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MONDO:0008192 - pheochromocytoma/paraganglioma syndrome 1

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MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

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MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

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MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

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MONDO:0011213 - Pierpont syndrome

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MONDO:0060568 - Pilarowski-Bjornsson syndrome

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MONDO:0010916 - polycystic kidney disease 3 with or without polycystic liver disease

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MONDO:0031062 - polycystic kidney disease 7

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MONDO:0008265 - polycystic liver disease 1

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MONDO:0014860 - polycystic liver disease 2

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MONDO:0054743 - polycystic liver disease 3 with or without kidney cysts

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

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

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

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MONDO:0008318 - Proteus syndrome

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MONDO:0017623 - PTEN hamartoma tumor syndrome

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MONDO:0024517 - SMARCB1-related schwannomatosis

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MONDO:0979230 - spastic ataxia 11, autosomal dominant

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MONDO:0700307 - spastic paraplegia 30A, autosomal dominant

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MONDO:0016163 - spinocerebellar ataxia 7

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MONDO:0011330 - spinocerebellar ataxia type 10

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MONDO:0011439 - spinocerebellar ataxia type 12

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MONDO:0011781 - spinocerebellar ataxia type 17

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MONDO:0008458 - spinocerebellar ataxia type 2

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MONDO:0012246 - spinocerebellar ataxia type 26

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MONDO:0012450 - spinocerebellar ataxia type 28

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MONDO:0007574 - spinocerebellar ataxia type 34

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MONDO:0013594 - spinocerebellar ataxia type 36

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MONDO:0014417 - spinocerebellar ataxia type 38

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MONDO:0011335 - spondyloepimetaphyseal dysplasia with multiple dislocations

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MONDO:0013385 - Treacher Collins syndrome 2

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MONDO:0009558 - Treacher Collins syndrome 3

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MONDO:0030067 - Treacher Collins syndrome 4

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MONDO:0002457 - Treacher-Collins syndrome

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MONDO:0001734 - tuberous sclerosis

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MONDO:0008612 - tuberous sclerosis 1

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MONDO:0013199 - tuberous sclerosis 2

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