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Disease association ontology term - MONDO:0006025 - autosomal recessive disease

Term summary

ID
MONDO:0006025
Name
autosomal recessive disease
Ontology or CV name
Disease association
Definition
Autosomal recessive form of disease.

Parents

Annotation

Disease association

MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

References:

Genes:

MONDO:0100255 - adenosine kinase deficiency

References:

Genes:

MONDO:0012429 - Aicardi-Goutieres syndrome 2

References:

Genes:

MONDO:0012471 - Aicardi-Goutieres syndrome 3

References:

Genes:

MONDO:0012472 - Aicardi-Goutieres syndrome 4

References:

Genes:

MONDO:0014007 - Aicardi-Goutieres syndrome 6

References:

Genes:

MONDO:0014648 - Al-Raqad syndrome

References:

Genes:

MONDO:0014219 - alacrima, achalasia, and intellectual disability syndrome

References:

Genes:

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

References:

Genes:

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

References:

Genes:

MONDO:0014557 - ataxia - oculomotor apraxia type 4

References:

Genes:

MONDO:0060582 - auditory neuropathy-optic atrophy syndrome

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

References:

Genes:

MONDO:0015244 - autosomal recessive cerebellar ataxia

References:

Genes:

MONDO:0014010 - autosomal recessive congenital ichthyosis 9

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:

Genes:

MONDO:0027451 - autosomal recessive cutis laxa type 2D

References:

Genes:

MONDO:0011436 - autosomal recessive distal spinal muscular atrophy 1

References:

Genes:

MONDO:0011585 - autosomal recessive distal spinal muscular atrophy 2

References:

Genes:

MONDO:0009925 - autosomal recessive inherited pseudoxanthoma elasticum

References:

Genes:

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:0019502 - autosomal recessive non-syndromic intellectual disability

References:

Genes:

MONDO:0012091 - autosomal recessive nonsyndromic hearing loss 32

References:

Genes:

MONDO:0010933 - autosomal recessive nonsyndromic hearing loss 4

References:

Genes:

MONDO:0013471 - autosomal recessive nonsyndromic hearing loss 61

References:

Genes:

MONDO:0013386 - autosomal recessive nonsyndromic hearing loss 74

References:

Genes:

MONDO:0014237 - autosomal recessive nonsyndromic hearing loss 76

References:

Genes:

MONDO:0013489 - autosomal recessive nonsyndromic hearing loss 89

References:

Genes:

MONDO:0010986 - autosomal recessive nonsyndromic hearing loss 9

References:

Genes:

MONDO:0009815 - autosomal recessive osteopetrosis 1

References:

Genes:

MONDO:0012676 - autosomal recessive osteopetrosis 4

References:

Genes:

MONDO:0016660 - autosomal recessive primary microcephaly

References:

Genes:

MONDO:0011422 - autosomal recessive proximal renal tubular acidosis

References:

Genes:

MONDO:0014975 - autosomal recessive spastic paraplegia type 78

References:

Genes:

MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

References:

Genes:

MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

References:

Genes:

MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0008858 - Behr syndrome

References:

Genes:

MONDO:0008760 - beta-ketothiolase deficiency

References:

Genes:

MONDO:0009872 - Bjornstad syndrome

References:

Genes:

MONDO:0008876 - Bloom syndrome

References:

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

References:

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

Genes:

MONDO:0009595 - cartilage-hair hypoplasia

References:

Genes:

MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

References:

Genes:

MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

References:

Genes:

MONDO:0008955 - cerebrooculofacioskeletal syndrome 1

References:

Genes:

MONDO:0012553 - cerebrooculofacioskeletal syndrome 2

References:

Genes:

MONDO:0014696 - cerebrooculofacioskeletal syndrome 3

References:

Genes:

MONDO:0012554 - cerebrooculofacioskeletal syndrome 4

References:

Genes:

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

References:

Genes:

MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

References:

Genes:

MONDO:0016006 - Cockayne syndrome

References:

Genes:

MONDO:0019569 - Cockayne syndrome type 1

References:

Genes:

MONDO:0019570 - Cockayne syndrome type 2

References:

Genes:

MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

References:

Genes:

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

References:

Genes:

MONDO:0014118 - congenital neutropenia-myelofibrosis-nephromegaly syndrome

References:

Genes:

MONDO:0020746 - contractures, pterygia, and variable skeletal fusions syndrome 1B

References:

Genes:

MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2

References:

Genes:

MONDO:0013520 - dyskeratosis congenita, autosomal recessive 3

References:

Genes:

MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1

References:

Genes:

MONDO:0020781 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

References:

Genes:

MONDO:0012041 - familial adenomatous polyposis 2

References:

Genes:

MONDO:0100339 - Friedreich ataxia

References:

Genes:

MONDO:0100340 - Friedreich ataxia 1

References:

Genes:

MONDO:0009627 - Galloway-Mowat syndrome

References:

Genes:

MONDO:0030476 - Galloway-Mowat syndrome 10

References:

Genes:

MONDO:0033006 - Galloway-Mowat syndrome 2, X-linked

References:

Genes:

MONDO:0033007 - Galloway-Mowat syndrome 3

References:

Genes:

MONDO:0033008 - Galloway-Mowat syndrome 4

References:

Genes:

MONDO:0033009 - Galloway-Mowat syndrome 5

References:

Genes:

MONDO:0032691 - Galloway-Mowat syndrome 6

References:

Genes:

MONDO:0032692 - Galloway-Mowat syndrome 7

References:

Genes:

MONDO:0032693 - Galloway-Mowat syndrome 8

References:

Genes:

MONDO:0030471 - Galloway-Mowat syndrome 9

References:

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

References:

Genes:

MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

References:

Genes:

MONDO:0014953 - gnb5-related intellectual disability-cardiac arrhythmia syndrome

References:

Genes:

MONDO:0014911 - growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

References:

Genes:

MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

References:

Genes:

MONDO:0019588 - hearing loss, autosomal recessive

References:

Genes:

MONDO:0032740 - hearing loss, autosomal recessive 100

References:

Genes:

MONDO:0033199 - hearing loss, autosomal recessive 107

References:

Genes:

MONDO:0032639 - hearing loss, autosomal recessive 112

References:

Genes:

MONDO:0032761 - hearing loss, autosomal recessive 114

References:

Genes:

MONDO:0032762 - hearing loss, autosomal recessive 115

References:

Genes:

MONDO:0958277 - hearing loss, autosomal recessive 123

References:

Genes:

MONDO:0032749 - hearing loss, autosomal recessive 94

References:

Genes:

MONDO:0014131 - hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0044319 - intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

References:

Genes:

MONDO:0032662 - intellectual developmental disorder, autosomal recessive 67

References:

Genes:

MONDO:0032665 - intellectual developmental disorder, autosomal recessive 68

References:

Genes:

MONDO:0032789 - intellectual developmental disorder, autosomal recessive 71

References:

Genes:

MONDO:0030533 - intellectual developmental disorder, autosomal recessive 73

References:

Genes:

MONDO:0957288 - intellectual developmental disorder, autosomal recessive 79

References:

Genes:

MONDO:0958204 - intellectual developmental disorder, autosomal recessive 81

References:

Genes:

MONDO:0013173 - intellectual disability, autosomal recessive 13

References:

Genes:

MONDO:0013528 - intellectual disability, autosomal recessive 14

References:

Genes:

MONDO:0014348 - intellectual disability, autosomal recessive 42

References:

Genes:

MONDO:0014409 - intellectual disability, autosomal recessive 44

References:

Genes:

MONDO:0012613 - intellectual disability, autosomal recessive 5

References:

Genes:

MONDO:0014649 - intellectual disability, autosomal recessive 50

References:

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

References:

Genes:

MONDO:0014832 - intellectual disability, autosomal recessive 53

References:

Genes:

MONDO:0014930 - intellectual disability, autosomal recessive 56

References:

Genes:

MONDO:0014996 - intellectual disability, autosomal recessive 58

References:

Genes:

MONDO:0015020 - intellectual disability, autosomal recessive 59

References:

Genes:

MONDO:0044313 - intellectual disability, autosomal recessive 60

References:

Genes:

MONDO:0020850 - intellectual disability, autosomal recessive 65

References:

Genes:

MONDO:0012615 - intellectual disability, autosomal recessive 7

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0012991 - Kahrizi syndrome

References:

Genes:

MONDO:0009514 - Laurence-Moon syndrome

References:

Genes:

MONDO:0009953 - leukocyte adhesion deficiency type II

References:

Genes:

MONDO:0009567 - Marinesco-Sjogren syndrome

References:

Genes:

MONDO:0016817 - Meier-Gorlin syndrome

References:

Genes:

MONDO:0009143 - Meier-Gorlin syndrome 1

References:

Genes:

MONDO:0013428 - Meier-Gorlin syndrome 2

References:

Genes:

MONDO:0013430 - Meier-Gorlin syndrome 3

References:

Genes:

MONDO:0013431 - Meier-Gorlin syndrome 4

References:

Genes:

MONDO:0013432 - Meier-Gorlin syndrome 5

References:

Genes:

MONDO:0014894 - Meier-Gorlin syndrome 7

References:

Genes:

MONDO:0033046 - Meier-Gorlin syndrome 8

References:

Genes:

MONDO:0009601 - metaphyseal dysplasia without hypotrichosis

References:

Genes:

MONDO:0009354 - methylcobalamin deficiency type cblE

References:

Genes:

MONDO:0009609 - methylcobalamin deficiency type cblG

References:

Genes:

MONDO:0054716 - microcephaly 19, primary, autosomal recessive

References:

Genes:

MONDO:0054761 - microcephaly 20, primary, autosomal recessive

References:

Genes:

MONDO:0054804 - microcephaly 21, primary, autosomal recessive

References:

Genes:

MONDO:0054806 - microcephaly 23, primary, autosomal recessive

References:

Genes:

MONDO:0032583 - microcephaly 24, primary, autosomal recessive

References:

Genes:

MONDO:0030339 - microcephaly 28, primary, autosomal recessive

References:

Genes:

MONDO:0031060 - microcephaly 29, primary, autosomal recessive

References:

Genes:

MONDO:0011488 - microcephaly 3, primary, autosomal recessive

References:

Genes:

MONDO:0859342 - microcephaly 30, primary, autosomal recessive

References:

Genes:

MONDO:0011437 - microcephaly 4, primary, autosomal recessive

References:

Genes:

MONDO:0020628 - microcephaly, growth restriction, and increased sister chromatid exchange 2

References:

Genes:

MONDO:0010159 - mismatch repair cancer syndrome 1

References:

Genes:

MONDO:0030840 - mismatch repair cancer syndrome 2

References:

Genes:

MONDO:0030841 - mismatch repair cancer syndrome 3

References:

Genes:

MONDO:0030843 - mismatch repair cancer syndrome 4

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:0013877 - mitochondrial pyruvate carrier deficiency

References:

Genes:

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

References:

Genes:

MONDO:0009709 - myopathy, centronuclear, 2

References:

Genes:

MONDO:0034121 - NAD(P)HX dehydratase deficiency

References:

Genes:

MONDO:0013163 - nephronophthisis-like nephropathy 1

References:

Genes:

MONDO:0100348 - neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

References:

Genes:

MONDO:0030837 - neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities

References:

Genes:

MONDO:0971150 - neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

References:

Genes:

MONDO:0030055 - neuronopathy, distal hereditary motor, autosomal recessive 8

References:

Genes:

MONDO:0957874 - neuronopathy, distal hereditary motor, autosomal recessive 9

References:

Genes:

MONDO:0009756 - Niemann-Pick disease type A

References:

Genes:

MONDO:0011871 - Niemann-Pick disease type B

References:

Genes:

MONDO:0011873 - Niemann-Pick disease, type C2

References:

Genes:

MONDO:0009623 - Nijmegen breakage syndrome

References:

Genes:

MONDO:0957262 - osteopetrosis, autosomal recessive 9

References:

Genes:

MONDO:0010134 - Pendred syndrome

References:

Genes:

MONDO:0100165 - permanent neonatal diabetes mellitus 1

References:

Genes:

MONDO:0013948 - peroxisome biogenesis disorder 10A (Zellweger)

References:

Genes:

MONDO:0054549 - peroxisome biogenesis disorder 10B

References:

Genes:

MONDO:0013949 - peroxisome biogenesis disorder 11A (Zellweger)

References:

Genes:

MONDO:0013950 - peroxisome biogenesis disorder 11B

References:

Genes:

MONDO:0013951 - peroxisome biogenesis disorder 12A (Zellweger)

References:

Genes:

MONDO:0013952 - peroxisome biogenesis disorder 13A (Zellweger)

References:

Genes:

MONDO:0013967 - peroxisome biogenesis disorder 14B

References:

Genes:

MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes:

MONDO:0008954 - peroxisome biogenesis disorder 2A (Zellweger)

References:

Genes:

MONDO:0008736 - peroxisome biogenesis disorder 2B

References:

Genes:

MONDO:0013927 - peroxisome biogenesis disorder 3A (Zellweger)

References:

Genes:

MONDO:0013930 - peroxisome biogenesis disorder 4A (Zellweger)

References:

Genes:

MONDO:0013931 - peroxisome biogenesis disorder 4B

References:

Genes:

MONDO:0013936 - peroxisome biogenesis disorder 6A (Zellweger)

References:

Genes:

MONDO:0013937 - peroxisome biogenesis disorder 6B

References:

Genes:

MONDO:0013938 - peroxisome biogenesis disorder 7A (Zellweger)

References:

Genes:

MONDO:0013939 - peroxisome biogenesis disorder 7B

References:

Genes:

MONDO:0013942 - peroxisome biogenesis disorder 8A (Zellweger)

References:

Genes:

MONDO:0013943 - peroxisome biogenesis disorder 8B

References:

Genes:

MONDO:0013945 - peroxisome biogenesis disorder 9B

References:

Genes:

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

References:

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

References:

Genes:

MONDO:0009959 - peroxisome biogenesis disorder type 3B

References:

Genes:

MONDO:0017312 - Perrault syndrome

References:

Genes:

MONDO:0013972 - Perrault syndrome 2

References:

Genes:

MONDO:0014126 - Perrault syndrome 4

References:

Genes:

MONDO:0976232 - Perrault syndrome 7

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

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

References:

Genes:

MONDO:0054698 - proteasome-associated autoinflammatory syndrome 1

References:

Genes:

MONDO:0054700 - proteasome-associated autoinflammatory syndrome 2

References:

Genes:

MONDO:0054699 - proteasome-associated autoinflammatory syndrome 3

References:

Genes:

MONDO:0968983 - proteasome-associated autoinflammatory syndrome 6

References:

Genes:

MONDO:0009908 - pterin-4 alpha-carbinolamine dehydratase 1 deficiency

References:

Genes:

MONDO:0013755 - PYCR1-related de Barsy syndrome

References:

Genes:

MONDO:0013624 - Rafiq syndrome

References:

Genes:

MONDO:0100215 - Rajab interstitial lung disease with brain calcifications 1

References:

Genes:

MONDO:0009955 - rapadilino syndrome

References:

Genes:

MONDO:0009968 - renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

References:

Genes:

MONDO:0011268 - renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

References:

Genes:

MONDO:0012700 - renal tubular acidosis, distal, 4, with hemolytic anemia

References:

Genes:

MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

References:

Genes:

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes:

MONDO:0019342 - Seckel syndrome

References:

Genes:

MONDO:0008869 - Seckel syndrome 1

References:

Genes:

MONDO:0014991 - Seckel syndrome 10

References:

Genes:

MONDO:0011715 - Seckel syndrome 2

References:

Genes:

MONDO:0014350 - Seckel syndrome 8

References:

Genes:

MONDO:0600009 - severe hypophosphatasia

References:

Genes:

MONDO:0009833 - Shwachman-Diamond syndrome

References:

Genes:

MONDO:0044204 - Shwachman-Diamond syndrome 1

References:

Genes:

MONDO:0044205 - Shwachman-Diamond syndrome 2

References:

Genes:

MONDO:0008785 - sideroblastic anemia 2

References:

Genes:

MONDO:0014804 - sideroblastic anemia 3

References:

Genes:

MONDO:0012664 - spastic ataxia 3

References:

Genes:

MONDO:0013354 - spastic ataxia 4

References:

Genes:

MONDO:0013776 - spastic ataxia 5

References:

Genes:

MONDO:0971149 - spastic paraplegia 30B, autosomal recessive

References:

Genes:

MONDO:0859279 - spinal muscular atrophy, distal, autosomal recessive, 6

References:

Genes:

MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

References:

Genes:

MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

References:

Genes:

MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

References:

Genes:

MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

References:

Genes:

MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

References:

Genes:

MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

References:

Genes:

MONDO:0011801 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

References:

Genes:

MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

References:

Genes:

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

References:

Genes:

MONDO:0100144 - Uner Tan Syndrome

References:

Genes:

MONDO:0013788 - Usher syndrome type 3B

References:

Genes:

MONDO:0015797 - UV-sensitive syndrome

References:

Genes:

MONDO:0010909 - UV-sensitive syndrome 1

References:

Genes:

MONDO:0013829 - UV-sensitive syndrome 2

References:

Genes:

MONDO:0030077 - vertebral, cardiac, renal, and limb defects syndrome 3

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0010196 - Werner syndrome

References:

Genes:

MONDO:0009192 - Wolcott-Rallison syndrome

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0010216 - xeroderma pigmentosum group G

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes: