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Disease association ontology term - MONDO:0019755 - developmental defect during embryogenesis

Term summary

ID
MONDO:0019755
Name
developmental defect during embryogenesis
Ontology or CV name
Disease association
Definition
A disease that has its basis in the disruption of embryonic morphogenesis.

Parents

Annotation

Disease association

MONDO:0009916 - 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

References:

Genes:

MONDO:0700300 - achalasia-progeroid syndrome

References:

Genes:

MONDO:0014651 - acrofacial dysostosis Cincinnati type

References:

Genes:

MONDO:0013111 - acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

References:

Genes:

MONDO:0013895 - Adams-Oliver syndrome 3

References:

Genes:

MONDO:1010154 - adult hypophosphatasia

References:

Genes:

MONDO:0012099 - AICA-ribosiduria

References:

Genes:

MONDO:0012282 - Al-Gazali syndrome

References:

Genes:

MONDO:0009053 - ALDH18A1-related de Barsy syndrome

References:

Genes:

MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency

References:

Genes:

MONDO:0012221 - alpha-N-acetylgalactosaminidase deficiency type 1

References:

Genes:

MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2

References:

Genes:

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

References:

Genes:

MONDO:0032903 - arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

References:

Genes:

MONDO:0030281 - arthrogryposis multiplex congenita 6

References:

Genes:

MONDO:0975826 - arthrogryposis multiplex congenita 7, X-linked

References:

Genes:

MONDO:0030847 - arthrogryposis, distal, type 1C

References:

Genes:

MONDO:0032751 - arthrogryposis, distal, type 2B3

References:

Genes:

MONDO:0008822 - arthrogryposis, renal dysfunction, and cholestasis 1

References:

Genes:

MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

References:

Genes:

MONDO:0014700 - Au-Kline syndrome

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0014532 - autosomal dominant mitochondrial myopathy with exercise intolerance

References:

Genes:

MONDO:0008134 - autosomal dominant optic atrophy, classic form

References:

Genes:

MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0013812 - Baraitser-winter syndrome 2

References:

Genes:

MONDO:0008858 - Behr syndrome

References:

Genes:

MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type

References:

Genes:

MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type

References:

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

References:

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

References:

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

References:

Genes:

MONDO:0012557 - cardiomyopathy-hypotonia-lactic acidosis syndrome

References:

Genes:

MONDO:0012137 - Carney complex - trismus - pseudocamptodactyly syndrome

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:0014529 - cerebellar-facial-dental syndrome

References:

Genes:

MONDO:0007301 - cerebrocostomandibular syndrome

References:

Genes:

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

References:

Genes:

MONDO:0014733 - Charcot-Marie-Tooth disease type 4K

References:

Genes:

MONDO:0010621 - CHILD syndrome

References:

Genes:

MONDO:1010168 - childhood hypophosphatasia

References:

Genes:

MONDO:0044701 - childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

References:

Genes:

MONDO:0010221 - CHIME syndrome

References:

Genes:

MONDO:0012064 - choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

References:

Genes:

MONDO:0010814 - chondrodysplasia-pseudohermaphroditism syndrome

References:

Genes:

MONDO:0013256 - chromosome 15q24 deletion syndrome

References:

Genes:

MONDO:0009352 - classic homocystinuria

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:0010879 - CODAS syndrome

References:

Genes:

MONDO:0018151 - coenzyme Q10 deficiency

References:

Genes:

MONDO:0011829 - coenzyme Q10 deficiency, primary, 1

References:

Genes:

MONDO:0013838 - coenzyme Q10 deficiency, primary, 3

References:

Genes:

MONDO:0033615 - coenzyme q10 deficiency, primary, 9

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:0012637 - COG1-congenital disorder of glycosylation

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:0013969 - combined oxidative phosphorylation defect type 11

References:

Genes:

MONDO:0013986 - combined oxidative phosphorylation defect type 14

References:

Genes:

MONDO:0013987 - combined oxidative phosphorylation defect type 15

References:

Genes:

MONDO:0014190 - combined oxidative phosphorylation defect type 17

References:

Genes:

MONDO:0012510 - combined oxidative phosphorylation defect type 2

References:

Genes:

MONDO:0014397 - combined oxidative phosphorylation defect type 20

References:

Genes:

MONDO:0014398 - combined oxidative phosphorylation defect type 21

References:

Genes:

MONDO:0014525 - combined oxidative phosphorylation defect type 23

References:

Genes:

MONDO:0014547 - combined oxidative phosphorylation defect type 24

References:

Genes:

MONDO:0014636 - combined oxidative phosphorylation defect type 25

References:

Genes:

MONDO:0014684 - combined oxidative phosphorylation defect type 26

References:

Genes:

MONDO:0012534 - combined oxidative phosphorylation defect type 4

References:

Genes:

MONDO:0013306 - combined oxidative phosphorylation defect type 7

References:

Genes:

MONDO:0013570 - combined oxidative phosphorylation defect type 8

References:

Genes:

MONDO:0013811 - combined oxidative phosphorylation defect type 9

References:

Genes:

MONDO:0000732 - combined oxidative phosphorylation deficiency

References:

Genes:

MONDO:0014269 - combined oxidative phosphorylation deficiency 19

References:

Genes:

MONDO:0020727 - combined oxidative phosphorylation deficiency 22

References:

Genes:

MONDO:0014775 - combined oxidative phosphorylation deficiency 28

References:

Genes:

MONDO:0054677 - combined oxidative phosphorylation deficiency 33

References:

Genes:

MONDO:0054741 - combined oxidative phosphorylation deficiency 34

References:

Genes:

MONDO:0054742 - combined oxidative phosphorylation deficiency 35

References:

Genes:

MONDO:0054781 - combined oxidative phosphorylation deficiency 36

References:

Genes:

MONDO:0032712 - combined oxidative phosphorylation deficiency 38

References:

Genes:

MONDO:0032726 - combined oxidative phosphorylation deficiency 39

References:

Genes:

MONDO:0030006 - combined oxidative phosphorylation deficiency 40

References:

Genes:

MONDO:0030007 - combined oxidative phosphorylation deficiency 41

References:

Genes:

MONDO:0030008 - combined oxidative phosphorylation deficiency 42

References:

Genes:

MONDO:0030017 - combined oxidative phosphorylation deficiency 43

References:

Genes:

MONDO:0033533 - combined oxidative phosphorylation deficiency 45

References:

Genes:

MONDO:0033534 - combined oxidative phosphorylation deficiency 46

References:

Genes:

MONDO:0033537 - combined oxidative phosphorylation deficiency 47

References:

Genes:

MONDO:0030311 - combined oxidative phosphorylation deficiency 52

References:

Genes:

MONDO:0859228 - combined oxidative phosphorylation deficiency 55

References:

Genes:

MONDO:0859323 - combined oxidative phosphorylation deficiency 56

References:

Genes:

MONDO:0859337 - combined oxidative phosphorylation deficiency 57

References:

Genes:

MONDO:0957992 - combined oxidative phosphorylation deficiency 59

References:

Genes:

MONDO:0978298 - combined oxidative phosphorylation deficiency 60

References:

Genes:

MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0016033 - Cornelia de Lange syndrome

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:0957921 - Cornelia de Lange syndrome 6

References:

Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0958175 - craniofacial microsomia 1

References:

Genes:

MONDO:0011911 - craniolenticulosutural dysplasia

References:

Genes:

MONDO:0014706 - cutis laxa, autosomal dominant 3

References:

Genes:

MONDO:0010799 - deafness, aminoglycoside-induced

References:

Genes:

MONDO:0013837 - deafness-encephaloneuropathy-obesity-valvulopathy syndrome

References:

Genes:

MONDO:0034106 - developmental and epileptic encephalopathy, 73

References:

Genes:

MONDO:0032808 - developmental and epileptic encephalopathy, 77

References:

Genes:

MONDO:0013578 - DYRK1A-related intellectual disability syndrome

References:

Genes:

MONDO:0015003 - dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

References:

Genes:

MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

References:

Genes:

MONDO:0020066 - Ehlers-Danlos syndrome

References:

Genes:

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

References:

Genes:

MONDO:0013800 - Ehlers-Danlos syndrome, kyphoscoliotic type, 2

References:

Genes:

MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type

References:

Genes:

MONDO:0014139 - Ehlers-Danlos syndrome, spondylodysplastic type, 2

References:

Genes:

MONDO:0013726 - encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

References:

Genes:

MONDO:0013840 - encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

References:

Genes:

MONDO:0014801 - even-plus syndrome

References:

Genes:

MONDO:0010526 - Fabry disease

References:

Genes:

MONDO:0013836 - familial steroid-resistant nephrotic syndrome with sensorineural deafness

References:

Genes:

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:0012512 - fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

References:

Genes:

MONDO:0100101 - fetal akinesia deformation sequence 1

References:

Genes:

MONDO:0100104 - fetal akinesia deformation sequence 4

References:

Genes:

MONDO:0700301 - Fischer-Zirnsak progeroid syndrome

References:

Genes:

MONDO:0007621 - Floating-Harbor syndrome

References:

Genes:

MONDO:0012853 - Fontaine progeroid syndrome

References:

Genes:

MONDO:0008675 - Freeman-Sheldon syndrome

References:

Genes:

MONDO:0011730 - fumaric aciduria

References:

Genes:

MONDO:0009737 - galactosialidosis

References:

Genes:

MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

References:

Genes:

MONDO:0008974 - Greenberg dysplasia

References:

Genes:

MONDO:0014261 - growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

References:

Genes:

MONDO:0009008 - heart defect - tongue hamartoma - polysyndactyly syndrome

References:

Genes:

MONDO:0012191 - hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

References:

Genes:

MONDO:0014020 - hereditary spastic paraplegia 55

References:

Genes:

MONDO:0014882 - hereditary spastic paraplegia 77

References:

Genes:

MONDO:0032787 - holoprosencephaly 12 with or without pancreatic agenesis

References:

Genes:

MONDO:0026763 - holoprosencephaly 13, X-linked

References:

Genes:

MONDO:0030886 - holoprosencephaly 14

References:

Genes:

MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

References:

Genes:

MONDO:0014602 - Houge-Janssens syndrome 1

References:

Genes:

MONDO:0014605 - Houge-Janssens syndrome 2

References:

Genes:

MONDO:0014869 - hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

References:

Genes:

MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

References:

Genes:

MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

References:

Genes:

MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

References:

Genes:

MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

References:

Genes:

MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

References:

Genes:

MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

References:

Genes:

MONDO:0013458 - hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

References:

Genes:

MONDO:0014632 - hypomyelinating leukodystrophy 10

References:

Genes:

MONDO:0013722 - hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

References:

Genes:

MONDO:0009426 - hypoparathyroidism-retardation-dysmorphism syndrome

References:

Genes:

MONDO:0018570 - hypophosphatasia

References:

Genes:

MONDO:0024567 - hypotonia, infantile, with psychomotor retardation and characteristic facies 1

References:

Genes:

MONDO:0004069 - inborn mitochondrial metabolism disorder

References:

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

References:

Genes:

MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

References:

Genes:

MONDO:1010169 - infantile hypophosphatasia

References:

Genes:

MONDO:0010532 - infantile-onset X-linked spinal muscular atrophy

References:

Genes:

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

References:

Genes:

MONDO:0013819 - intellectual disability, autosomal dominant 14

References:

Genes:

MONDO:0013820 - intellectual disability, autosomal dominant 15

References:

Genes:

MONDO:0013821 - intellectual disability, autosomal dominant 16

References:

Genes:

MONDO:0030912 - intellectual disability, autosomal dominant 47

References:

Genes:

MONDO:0010500 - intellectual disability, X-linked, syndromic 33

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

References:

Genes:

MONDO:0009622 - Jawad syndrome

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0010465 - Kabuki syndrome 2

References:

Genes:

MONDO:0011816 - lathosterolosis

References:

Genes:

MONDO:0009514 - Laurence-Moon syndrome

References:

Genes:

MONDO:0009723 - Leigh syndrome

References:

Genes:

MONDO:0012750 - lethal arthrogryposis-anterior horn cell disease syndrome

References:

Genes:

MONDO:0009670 - lethal congenital contracture syndrome 1

References:

Genes:

MONDO:0012656 - lethal congenital contracture syndrome 3

References:

Genes:

MONDO:0014552 - lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

References:

Genes:

MONDO:0014976 - lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

References:

Genes:

MONDO:0012622 - leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

References:

Genes:

MONDO:0013971 - leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

References:

Genes:

MONDO:0008097 - linear nevus sebaceous syndrome

References:

Genes:

MONDO:0013762 - lipoic acid synthetase deficiency

References:

Genes:

MONDO:0014576 - lipoyl transferase 1 deficiency

References:

Genes:

MONDO:0014716 - macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

References:

Genes:

MONDO:0014757 - macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

References:

Genes:

MONDO:0014157 - mandibular hypoplasia-deafness-progeroid syndrome

References:

Genes:

MONDO:0030880 - mandibuloacral dysplasia progeroid syndrome

References:

Genes:

MONDO:0012074 - mandibuloacral dysplasia with type B lipodystrophy

References:

Genes:

MONDO:0012516 - mandibulofacial dysostosis-microcephaly syndrome

References:

Genes:

MONDO:0859147 - Marbach-Rustad progeroid syndrome

References:

Genes:

MONDO:0016814 - maternally-inherited Leigh 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:0980992 - Meier-Gorlin syndrome 9

References:

Genes:

MONDO:0012481 - mevalonic aciduria

References:

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

References:

Genes:

MONDO:0014793 - microcephaly-congenital cataract-psoriasiform dermatitis syndrome

References:

Genes:

MONDO:0014273 - microcephaly-thin corpus callosum-intellectual disability syndrome

References:

Genes:

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:0980970 - mitochondrial complex 4 deficiency, nuclear type 25

References:

Genes:

MONDO:0032869 - mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6

References:

Genes:

MONDO:0032617 - mitochondrial complex I deficiency, nuclear type 11

References:

Genes:

MONDO:0032626 - mitochondrial complex I deficiency, nuclear type 22

References:

Genes:

MONDO:0032630 - mitochondrial complex I deficiency, nuclear type 26

References:

Genes:

MONDO:0032631 - mitochondrial complex I deficiency, nuclear type 27

References:

Genes:

MONDO:0032609 - mitochondrial complex I deficiency, nuclear type 4

References:

Genes:

MONDO:0032612 - mitochondrial complex I deficiency, nuclear type 7

References:

Genes:

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

References:

Genes:

MONDO:0015448 - mitochondrial complex III deficiency

References:

Genes:

MONDO:0007415 - mitochondrial complex III deficiency nuclear type 1

References:

Genes:

MONDO:0014063 - mitochondrial complex III deficiency nuclear type 2

References:

Genes:

MONDO:0014064 - mitochondrial complex III deficiency nuclear type 3

References:

Genes:

MONDO:0014065 - mitochondrial complex III deficiency nuclear type 4

References:

Genes:

MONDO:0014066 - mitochondrial complex III deficiency nuclear type 5

References:

Genes:

MONDO:0014194 - mitochondrial complex III deficiency nuclear type 6

References:

Genes:

MONDO:0014356 - mitochondrial complex III deficiency nuclear type 7

References:

Genes:

MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

References:

Genes:

MONDO:0014496 - mitochondrial complex III deficiency nuclear type 9

References:

Genes:

MONDO:0032909 - mitochondrial complex III deficiency, nuclear type 10

References:

Genes:

MONDO:0859321 - mitochondrial complex III deficiency, nuclear type 11

References:

Genes:

MONDO:0700250 - mitochondrial complex IV deficiency, nuclear type 1

References:

Genes:

MONDO:0033639 - mitochondrial complex IV deficiency, nuclear type 10

References:

Genes:

MONDO:0033645 - mitochondrial complex IV deficiency, nuclear type 11

References:

Genes:

MONDO:0033649 - mitochondrial complex IV deficiency, nuclear type 14

References:

Genes:

MONDO:0033651 - mitochondrial complex IV deficiency, nuclear type 16

References:

Genes:

MONDO:0033653 - mitochondrial complex IV deficiency, nuclear type 18

References:

Genes:

MONDO:0033654 - mitochondrial complex IV deficiency, nuclear type 19

References:

Genes:

MONDO:0033655 - mitochondrial complex IV deficiency, nuclear type 20

References:

Genes:

MONDO:0033656 - mitochondrial complex IV deficiency, nuclear type 21

References:

Genes:

MONDO:0859160 - mitochondrial complex IV deficiency, nuclear type 22

References:

Genes:

MONDO:0859520 - mitochondrial complex IV deficiency, nuclear type 23

References:

Genes:

MONDO:0033635 - mitochondrial complex IV deficiency, nuclear type 3

References:

Genes:

MONDO:0033636 - mitochondrial complex IV deficiency, nuclear type 4

References:

Genes:

MONDO:0033637 - mitochondrial complex IV deficiency, nuclear type 7

References:

Genes:

MONDO:0033638 - mitochondrial complex IV deficiency, nuclear type 8

References:

Genes:

MONDO:0011421 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

References:

Genes:

MONDO:0013546 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

References:

Genes:

MONDO:0957254 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

References:

Genes:

MONDO:0014091 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

References:

Genes:

MONDO:0020858 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

References:

Genes:

MONDO:0957255 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

References:

Genes:

MONDO:0014062 - mitochondrial DNA deletion syndrome with progressive myopathy

References:

Genes:

MONDO:0018158 - mitochondrial DNA depletion syndrome

References:

Genes:

MONDO:0014959 - mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

References:

Genes:

MONDO:0014175 - mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive

References:

Genes:

MONDO:0980967 - mitochondrial dna depletion syndrome 14A (encephalomyopathic type)

References:

Genes:

MONDO:0014820 - mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)

References:

Genes:

MONDO:0014943 - mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

References:

Genes:

MONDO:0032815 - mitochondrial DNA depletion syndrome 17

References:

Genes:

MONDO:0032932 - mitochondrial DNA depletion syndrome 18

References:

Genes:

MONDO:0976132 - mitochondrial dna depletion syndrome 21

References:

Genes:

MONDO:0008758 - mitochondrial DNA depletion syndrome 4a

References:

Genes:

MONDO:0013350 - mitochondrial DNA depletion syndrome 4b

References:

Genes:

MONDO:0009747 - mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

References:

Genes:

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

References:

Genes:

MONDO:0009504 - mitochondrial DNA depletion syndrome 9

References:

Genes:

MONDO:0012791 - mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

References:

Genes:

MONDO:0013865 - mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

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:0016387 - mitochondrial oxidative phosphorylation disorder

References:

Genes:

MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

References:

Genes:

MONDO:0013877 - mitochondrial pyruvate carrier deficiency

References:

Genes:

MONDO:0018938 - mucopolysaccharidosis type 4

References:

Genes:

MONDO:0009661 - mucopolysaccharidosis type 6

References:

Genes:

MONDO:0015012 - mucopolysaccharidosis-plus syndrome

References:

Genes:

MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

References:

Genes:

MONDO:0013563 - multiple congenital anomalies-hypotonia-seizures syndrome 1

References:

Genes:

MONDO:0010466 - multiple congenital anomalies-hypotonia-seizures syndrome 2

References:

Genes:

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

References:

Genes:

MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

References:

Genes:

MONDO:0975806 - multiple mitochondrial dysfunctions syndrome 10

References:

Genes:

MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

References:

Genes:

MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

References:

Genes:

MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

References:

Genes:

MONDO:0033282 - multiple mitochondrial dysfunctions syndrome 5

References:

Genes:

MONDO:0054785 - multiple mitochondrial dysfunctions syndrome 6

References:

Genes:

MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

References:

Genes:

MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b

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:0010686 - N syndrome

References:

Genes:

MONDO:0007943 - Nager acrofacial dysostosis

References:

Genes:

MONDO:0014562 - neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

References:

Genes:

MONDO:0009736 - Neu-Laxova syndrome 1

References:

Genes:

MONDO:0014466 - Neu-Laxova syndrome 2

References:

Genes:

MONDO:0060502 - neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

References:

Genes:

MONDO:0009623 - Nijmegen breakage syndrome

References:

Genes:

MONDO:0013118 - Nijmegen breakage syndrome-like disorder

References:

Genes:

MONDO:0018997 - Noonan syndrome

References:

Genes:

MONDO:0033669 - Noonan syndrome 13

References:

Genes:

MONDO:0012371 - Noonan syndrome 3

References:

Genes:

MONDO:0013186 - Noonan syndrome 6

References:

Genes:

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

References:

Genes:

MONDO:0010572 - occipital horn syndrome

References:

Genes:

MONDO:0009485 - oculocerebrofacial syndrome, Kaufman type

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0100283 - overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

References:

Genes:

MONDO:0008759 - oxoglutaricaciduria

References:

Genes:

MONDO:0014751 - palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

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:0011213 - Pierpont syndrome

References:

Genes:

MONDO:0060568 - Pilarowski-Bjornsson syndrome

References:

Genes:

MONDO:0020135 - pontocerebellar hypoplasia

References:

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

References:

Genes:

MONDO:0014349 - pontocerebellar hypoplasia type 10

References:

Genes:

MONDO:0013853 - pontocerebellar hypoplasia type 1B

References:

Genes:

MONDO:0010190 - pontocerebellar hypoplasia type 2A

References:

Genes:

MONDO:0012890 - pontocerebellar hypoplasia type 2B

References:

Genes:

MONDO:0012891 - pontocerebellar hypoplasia type 2C

References:

Genes:

MONDO:0014370 - pontocerebellar hypoplasia type 2E

References:

Genes:

MONDO:0009166 - pontocerebellar hypoplasia type 4

References:

Genes:

MONDO:0012438 - pontocerebellar hypoplasia type 5

References:

Genes:

MONDO:0012683 - pontocerebellar hypoplasia type 6

References:

Genes:

MONDO:0013990 - pontocerebellar hypoplasia type 8

References:

Genes:

MONDO:0014351 - pontocerebellar hypoplasia type 9

References:

Genes:

MONDO:0032643 - pontocerebellar hypoplasia, type 12

References:

Genes:

MONDO:0032831 - pontocerebellar hypoplasia, type 13

References:

Genes:

MONDO:0030258 - pontocerebellar hypoplasia, type 14

References:

Genes:

MONDO:0030259 - pontocerebellar hypoplasia, type 15

References:

Genes:

MONDO:0030438 - pontocerebellar hypoplasia, type 16

References:

Genes:

MONDO:0014485 - pontocerebellar hypoplasia, type 1C

References:

Genes:

MONDO:0054844 - pontocerebellar hypoplasia, type 1D

References:

Genes:

MONDO:0030261 - pontocerebellar hypoplasia, type 1F

References:

Genes:

MONDO:0014874 - pontocerebellar hypoplasia, type 2F

References:

Genes:

MONDO:0009903 - postaxial acrofacial dysostosis

References:

Genes:

MONDO:0014754 - primary coenzyme Q10 deficiency 8

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:0008318 - Proteus syndrome

References:

Genes:

MONDO:0011301 - pseudohypoparathyroidism type 1B

References:

Genes:

MONDO:0017623 - PTEN hamartoma tumor syndrome

References:

Genes:

MONDO:0013755 - PYCR1-related de Barsy syndrome

References:

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

References:

Genes:

MONDO:0010717 - pyruvate dehydrogenase E1-alpha deficiency

References:

Genes:

MONDO:0013580 - pyruvate dehydrogenase E1-beta deficiency

References:

Genes:

MONDO:0009502 - pyruvate dehydrogenase E2 deficiency

References:

Genes:

MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

References:

Genes:

MONDO:0009503 - pyruvate dehydrogenase E3-binding protein deficiency

References:

Genes:

MONDO:0012120 - pyruvate dehydrogenase phosphatase deficiency

References:

Genes:

MONDO:0009955 - rapadilino syndrome

References:

Genes:

MONDO:0800042 - restrictive dermopathy 1

References:

Genes:

MONDO:0044634 - retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

References:

Genes:

MONDO:0012783 - RFT1-congenital disorder of glycosylation

References:

Genes:

MONDO:0009998 - Richieri Costa-Pereira syndrome

References:

Genes:

MONDO:0008922 - Sengers syndrome

References:

Genes:

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

References:

Genes:

MONDO:0014886 - severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome

References:

Genes:

MONDO:0600009 - severe hypophosphatasia

References:

Genes:

MONDO:0014238 - severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

References:

Genes:

MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy

References:

Genes:

MONDO:0014804 - sideroblastic anemia 3

References:

Genes:

MONDO:0054636 - Skraban-Deardorff syndrome

References:

Genes:

MONDO:0010478 - SLC35A2-congenital disorder of glycosylation

References:

Genes:

MONDO:0024517 - SMARCB1-related schwannomatosis

References:

Genes:

MONDO:0010035 - Smith-Lemli-Opitz syndrome

References:

Genes:

MONDO:0012664 - spastic ataxia 3

References:

Genes:

MONDO:0013354 - spastic ataxia 4

References:

Genes:

MONDO:0013776 - spastic ataxia 5

References:

Genes:

MONDO:0014803 - spasticity-ataxia-gait anomalies syndrome

References:

Genes:

MONDO:0014806 - spinal muscular atrophy with congenital bone fractures 1

References:

Genes:

MONDO:0014807 - spinal muscular atrophy with congenital bone fractures 2

References:

Genes:

MONDO:0012450 - spinocerebellar ataxia type 28

References:

Genes:

MONDO:0980701 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2

References:

Genes:

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

References:

Genes:

MONDO:0010574 - syndromic X-linked intellectual disability 5

References:

Genes:

MONDO:0010355 - syndromic X-linked intellectual disability Claes-Jensen type

References:

Genes:

MONDO:0010286 - syndromic X-linked intellectual disability Siderius type

References:

Genes:

MONDO:0014848 - TELO2-related intellectual disability-neurodevelopmental disorder

References:

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

References:

Genes:

MONDO:0014881 - transketolase deficiency

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

References:

Genes:

MONDO:0014296 - Warburg micro syndrome 4

References:

Genes:

MONDO:0013252 - Warsaw breakage syndrome

References:

Genes:

MONDO:0010196 - Werner syndrome

References:

Genes:

MONDO:0009910 - Wiedemann-Rautenstrauch syndrome

References:

Genes:

MONDO:0010208 - wrinkly skin syndrome

References:

Genes:

MONDO:0010485 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

References:

Genes:

MONDO:0010655 - X-linked intellectual disability with marfanoid habitus

References:

Genes:

MONDO:0010306 - X-linked intellectual disability, Cabezas type

References:

Genes:

MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome

References:

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

References:

Genes:

MONDO:0012590 - XFE progeroid syndrome

References:

Genes:

MONDO:0019609 - Zellweger spectrum disorders

References:

Genes:

MONDO:0014936 - ZTTK syndrome

References:

Genes: