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Table 9 List of OMIM Diseases

From: Sequencing and comparative genomic analysis of 1227 Felis catus cDNA sequences enriched for developmental, clinical and nutritional phenotypes

Disease Name Disease Name
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Glycogen storage disease, type 0
2-methylbutyrylglycinuria Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy
2-methylbutyrylglycinuria Griscelli syndrome, type 2
3-methylglutaconic aciduria, type I Hawkinsinuria
Acyl-CoA dehydrogenase, short-chain, deficiency of Hemolytic anemia due to bisphosphoglycerate mutase deficiency
Adrenal cortical carcinoma Homocysteine plasma level
Aldolase A deficiency HPRT-related gout
Alzheimer disease-4 Hyper-IgD syndrome
Amyotrophic lateral sclerosis 10 Hyperleucinemia-isoleucinemia or hypervalinemia
Arthrogryposis multiplex congenita, distal, type 1 Hypervalinemia or hyperleucine-isoleucinemia
Bannayan-Riley-Ruvalcaba syndrome Hypogonadotropic hypogonadism
Bartter syndrome, type 2 Hypokalemic periodic paralysis
Beta-ureidopropionase deficiency Hypomagnesemia, renal, with ocular involvement
Birt-Hogg-Dube syndrome, Hypotrichosis, localized, autosomal recessive
Bjornstad syndrome, Immunodeficiency with hyper IgM, type 4
Breast cancer, sporadic Leigh syndrome
Brugada syndrome 2 Leukoencephalopathy with vanishing white matter
Brunner syndrome Lipoid adrenal hyperplasia
C2 deficiency Lung cancer
C9 deficiency Mast syndrome,
Cardiomyopathy, dilated, 1M, Megakaryoblastic leukemia, acute
Cardiomyopathy, dilated, 1N Mental retardation, X-linked syndromic
Cardiomyopathy, dilated, 1Z Methemoglobinemia due to cytochrome b5 deficiency
Cardiomyopathy, familial hypertrophic Methylmalonyl-CoA epimerase deficiency
Carnitine acetyltransferase deficiency Microphthalmia, syndromic 6
Carnitine deficiency, systemic primary Mitochondrial complex I deficiency
Cataract, posterior polar 2 Myopathy due to phosphoglycerate mutase deficiency
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Myopathy with exercise intolerance, Swedish type
Ceroid lipofuscinosis, neuronal 8 Neuroblastoma
Charcot-Marie-Tooth disease, axonal, type 2F Oral-facial-digital syndrome 1
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 Ovarian carcinoma
Colon cancer, advanced Pancreatic cancer
Combined oxidative phosphorylation deficiency 2 Phenylketonuria - dihydropteridine reductase deficiency
Combined oxidative phosphorylation deficiency 5 Phosphoglycerate kinase 1 deficiency
Congenital disorder of glycosylation, type IIc Porphyria cutanea tarda
Costello syndrome Retinitis pigmentosa-46
Cutis laxa, autosomal dominant Retinitis pigmentosa-46
D-2-hydroxyglutaric aciduria Ribose 5-phosphate isomerase deficiency
Deafness, autosomal recessive 63 Spastic paraplegia 31
Desmosterolosis Spondylocostal dysostosis, autosomal recessive 3
Diamond-Blackfan anemia 6 STAR syndrome
Epilepsy, neonatal myoclonic, with suppression-burst pattern Temperature-sensitive apoptosis, cellular
Esophageal carcinoma, somatic Transcobalamin II deficiency
Galactosemia Tyrosinemia, type I
Generalized epilepsy with febrile seizures Ventricular tachycardia, catecholaminergic polymorphic, 2
Glutamine deficiency, congenital  
  1. A set of 90 human genetic disorders associated with orthologous feline cDNA sequences are listed in the table. The table contains an alphabetical list of the human diseases in two columns. (Additional information including cDNA identifier, ensembl human gene identifier, OMIM identifier and disease name can be found in Additional file 3, Table S3).
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BMC Genomics

ISSN: 1471-2164

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