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Disease association ontology term - MONDO:0021147 - disorder of development or morphogenesis

Term summary

ID
MONDO:0021147
Name
disorder of development or morphogenesis
Ontology or CV name
Disease association
Definition
Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development.

Parents

Annotation

Disease association

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

References:

Genes:

MONDO:8000015 - 46,XY sex reversal 11

References:

Genes:

MONDO:0700300 - achalasia-progeroid syndrome

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:0007048 - acrokeratosis verruciformis

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:0011790 - Amish lethal microcephaly

References:

Genes:

MONDO:0054560 - anauxetic dysplasia 1

References:

Genes:

MONDO:0054561 - anauxetic dysplasia 2

References:

Genes:

MONDO:0030019 - anauxetic dysplasia 3

References:

Genes:

MONDO:0014937 - aniridia 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:0009727 - atelosteogenesis type II

References:

Genes:

MONDO:0013567 - atrial septal defect 3

References:

Genes:

MONDO:0013011 - atrial septal defect 5

References:

Genes:

MONDO:0013770 - atrial septal defect 9

References:

Genes:

MONDO:0013769 - atrioventricular septal defect 5

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:0016660 - autosomal recessive primary microcephaly

References:

Genes:

MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

References:

Genes:

MONDO:0009039 - Baller-Gerold syndrome

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:0008876 - Bloom syndrome

References:

Genes:

MONDO:0008879 - Bowen-Conradi syndrome

References:

Genes:

MONDO:0008913 - cardiac valvular defect, developmental

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:0019165 - central precocious puberty

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:0010441 - CK 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:0978298 - combined oxidative phosphorylation deficiency 60

References:

Genes:

MONDO:0013541 - complex cortical dysplasia with other brain malformations 1

References:

Genes:

MONDO:0014171 - complex cortical dysplasia with other brain malformations 4

References:

Genes:

MONDO:0014337 - complex cortical dysplasia with other brain malformations 5

References:

Genes:

MONDO:0014341 - complex cortical dysplasia with other brain malformations 6

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:0012071 - congenital generalized lipodystrophy type 1

References:

Genes:

MONDO:0010020 - congenital generalized lipodystrophy type 2

References:

Genes:

MONDO:0016581 - conotruncal heart malformations

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:0010333 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

References:

Genes:

MONDO:0009026 - Costello syndrome

References:

Genes:

MONDO:0979883 - cranioectodermal dysplasia 6

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:0009107 - diastrophic dysplasia

References:

Genes:

MONDO:0013261 - dilated cardiomyopathy 1R

References:

Genes:

MONDO:0013262 - dilated cardiomyopathy 1S

References:

Genes:

MONDO:0011686 - DNA ligase IV deficiency

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:0012980 - endocrine-cerebro-osteodysplasia syndrome

References:

Genes:

MONDO:0033014 - erythrokeratodermia variabilis et progressiva 4

References:

Genes:

MONDO:0014801 - even-plus syndrome

References:

Genes:

MONDO:0010526 - Fabry disease

References:

Genes:

MONDO:0010066 - familial isolated congenital asplenia

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:0800030 - gastrointestinal defects and immunodeficiency syndrome 1

References:

Genes:

MONDO:0030669 - gastrointestinal defects and immunodeficiency syndrome 2

References:

Genes:

MONDO:0011640 - genitopatellar syndrome

References:

Genes:

MONDO:0018445 - global developmental delay - lung cysts - overgrowth - Wilms tumor 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:0011236 - hyperinsulinemic hypoglycemia, familial, 3

References:

Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

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

References:

Genes:

MONDO:0009416 - hypoinsulinemic hypoglycemia and body hemihypertrophy

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:0009440 - ichthyosiform erythroderma, corneal involvement, and hearing loss

References:

Genes:

MONDO:0015713 - idiopathic central precocious puberty

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:0008939 - isolated cerebellar hypoplasia/agenesis

References:

Genes:

MONDO:0011818 - isolated focal cortical dysplasia type II

References:

Genes:

MONDO:0009007 - Jalili syndrome

References:

Genes:

MONDO:0009622 - Jawad syndrome

References:

Genes:

MONDO:0009479 - Johanson-Blizzard syndrome

References:

Genes:

MONDO:0010465 - Kabuki syndrome 2

References:

Genes:

MONDO:0044792 - large congenital melanocytic nevus

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:0013740 - lethal occipital encephalocele-skeletal dysplasia 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:0014596 - lissencephaly 7 with cerebellar hypoplasia

References:

Genes:

MONDO:0012703 - lissencephaly due to TUBA1A mutation

References:

Genes:

MONDO:0018838 - lissencephaly spectrum disorders

References:

Genes:

MONDO:0011537 - macrocephaly-autism syndrome

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:0009598 - metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

References:

Genes:

MONDO:0012481 - mevalonic aciduria

References:

Genes:

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

References:

Genes:

MONDO:0008872 - microcephalic osteodysplastic primordial dwarfism type II

References:

Genes:

MONDO:0001149 - microcephaly

References:

Genes:

MONDO:0054593 - microcephaly 18, primary, autosomal dominant

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:0009624 - microcephaly and chorioretinopathy 1

References:

Genes:

MONDO:0014592 - microcephaly and chorioretinopathy 3

References:

Genes:

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

References:

Genes:

MONDO:0980935 - microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia

References:

Genes:

MONDO:0013254 - microcephaly, seizures, and developmental delay

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:0009189 - multiple epiphyseal dysplasia type 4

References:

Genes:

MONDO:0009465 - multiple intestinal atresia

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:0011120 - neural tube defects, folate-sensitive

References:

Genes:

MONDO:0009578 - neurocutaneous melanocytosis

References:

Genes:

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

References:

Genes:

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

References:

Genes:

MONDO:0008093 - nevus, epidermal

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:0010457 - Ogden syndrome

References:

Genes:

MONDO:0033549 - optic atrophy 12

References:

Genes:

MONDO:0008133 - optic atrophy 3

References:

Genes:

MONDO:0013378 - orofacial cleft 10

References:

Genes:

MONDO:0012592 - osteogenesis imperfecta type 11

References:

Genes:

MONDO:0009805 - osteogenesis imperfecta type 9

References:

Genes:

MONDO:0030861 - osteogenesis imperfecta, type 21

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:0007858 - palmoplantar keratoderma, punctate type 1A

References:

Genes:

MONDO:0008416 - palmoplantar keratoderma-sclerodactyly syndrome

References:

Genes:

MONDO:0012992 - pancreatic insufficiency-anemia-hyperostosis syndrome

References:

Genes:

MONDO:0000448 - paraganglioma

References:

Genes:

MONDO:0009965 - Perlman 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:0008192 - pheochromocytoma/paraganglioma syndrome 1

References:

Genes:

MONDO:0011121 - pheochromocytoma/paraganglioma syndrome 2

References:

Genes:

MONDO:0011544 - pheochromocytoma/paraganglioma syndrome 3

References:

Genes:

MONDO:0007273 - pheochromocytoma/paraganglioma syndrome 4

References:

Genes:

MONDO:0013602 - pheochromocytoma/paraganglioma syndrome 5

References:

Genes:

MONDO:0032771 - pheochromocytoma/paraganglioma 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:0008293 - porokeratosis 3, disseminated superficial actinic type

References:

Genes:

MONDO:0013868 - porokeratosis 7, multiple types

References:

Genes:

MONDO:0014713 - porokeratosis 9, multiple types

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:0014714 - progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

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:0009131 - Riley-Day syndrome

References:

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

References:

Genes:

MONDO:0016368 - Rothmund-Thomson syndrome type 1

References:

Genes:

MONDO:0016369 - Rothmund-Thomson syndrome type 2

References:

Genes:

MONDO:0970950 - Rothmund-Thomson syndrome type 4

References:

Genes:

MONDO:0010013 - schneckenbecken dysplasia

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

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:0008449 - spina bifida

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: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:0010275 - spondyloepimetaphyseal dysplasia, Bieganski type

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: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:0008542 - tetralogy of fallot

References:

Genes:

MONDO:0010121 - thrombocytopenia-absent radius syndrome

References:

Genes:

MONDO:0013870 - TMEM165-congenital disorder of glycosylation

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:0009192 - Wolcott-Rallison 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: