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Disease association ontology term - MONDO:0002525 - inherited lipid metabolism disorder

Term summary

ID
MONDO:0002525
Name
inherited lipid metabolism disorder
Ontology or CV name
Disease association
Definition
An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.

Parents

Annotation

Disease association

MONDO:0011614 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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MONDO:0009025 - apparent mineralocorticoid excess

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MONDO:0008760 - beta-ketothiolase deficiency

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

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MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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MONDO:0010621 - CHILD syndrome

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MONDO:0010221 - CHIME syndrome

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MONDO:0019149 - cholesteryl ester storage disease

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MONDO:0009528 - chylomicron retention disease

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MONDO:0013310 - congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

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MONDO:0013760 - congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

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MONDO:0011503 - cortisone reductase deficiency 1

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MONDO:0033364 - developmental and epileptic encephalopathy, 55

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MONDO:0032808 - developmental and epileptic encephalopathy, 77

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MONDO:0032822 - developmental and epileptic encephalopathy, 80

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MONDO:0010155 - Dorfman-Chanarin disease

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

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MONDO:0010526 - Fabry disease

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MONDO:0005439 - familial hypercholesterolemia

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MONDO:0060627 - glycosylphosphatidylinositol biosynthesis defect 15

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MONDO:0040500 - glycosylphosphatidylinositol biosynthesis defect 16

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MONDO:0060724 - glycosylphosphatidylinositol biosynthesis defect 17

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MONDO:0029140 - glycosylphosphatidylinositol biosynthesis defect 18

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MONDO:0008974 - Greenberg dysplasia

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MONDO:0013584 - hereditary sensory neuropathy-deafness-dementia syndrome

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MONDO:0012787 - hereditary spastic paraplegia 39

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MONDO:0011369 - hypercholesterolemia, autosomal dominant, 3

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MONDO:0012465 - hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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MONDO:0009849 - hyperimmunoglobulinemia D with periodic fever

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MONDO:0009398 - hyperphosphatasia with intellectual disability syndrome 1

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MONDO:0013882 - hyperphosphatasia with intellectual disability syndrome 2

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MONDO:0014318 - hyperphosphatasia with intellectual disability syndrome 4

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MONDO:0014457 - hyperphosphatasia with intellectual disability syndrome 5

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MONDO:0014780 - hyperphosphatasia with intellectual disability syndrome 6

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MONDO:0014832 - intellectual disability, autosomal recessive 53

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MONDO:0011816 - lathosterolosis

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MONDO:0013762 - lipoic acid synthetase deficiency

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MONDO:0014576 - lipoyl transferase 1 deficiency

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MONDO:0011246 - megaconial type congenital muscular dystrophy

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MONDO:0018868 - metachromatic leukodystrophy

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MONDO:0012481 - mevalonic aciduria

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

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MONDO:0009282 - multiple acyl-CoA dehydrogenase deficiency

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

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

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

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MONDO:0011582 - multiple mitochondrial dysfunctions syndrome 1

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MONDO:0975806 - multiple mitochondrial dysfunctions syndrome 10

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MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

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MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

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MONDO:0014611 - multiple mitochondrial dysfunctions syndrome 4

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MONDO:0033282 - multiple mitochondrial dysfunctions syndrome 5

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MONDO:0054785 - multiple mitochondrial dysfunctions syndrome 6

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MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7

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MONDO:0971174 - multiple mitochondrial dysfunctions syndrome 9b

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MONDO:0030037 - neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

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MONDO:0009744 - neuronal ceroid lipofuscinosis 1

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MONDO:0008767 - neuronal ceroid lipofuscinosis 3

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MONDO:0008086 - neuropathy, hereditary sensory and autonomic, type 1A

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MONDO:0013337 - neuropathy, hereditary sensory and autonomic, type 1C

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MONDO:0001982 - Niemann-Pick disease

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MONDO:0009756 - Niemann-Pick disease type A

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MONDO:0011871 - Niemann-Pick disease type B

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MONDO:0011873 - Niemann-Pick disease, type C2

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MONDO:0009515 - Norum disease

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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MONDO:0015776 - rhizomelic chondrodysplasia punctata

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MONDO:0008972 - rhizomelic chondrodysplasia punctata type 1

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MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

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MONDO:0008922 - Sengers syndrome

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MONDO:0020747 - sitosterolemia 1

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MONDO:0020748 - sitosterolemia 2

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MONDO:0010035 - Smith-Lemli-Opitz syndrome

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MONDO:0014803 - spasticity-ataxia-gait anomalies syndrome

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MONDO:0014417 - spinocerebellar ataxia type 38

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MONDO:0009492 - succinyl-CoA:3-ketoacid CoA transferase deficiency

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MONDO:0019148 - Wolman disease

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