omimdefinitions

| Deafness, autosomal recessive 70, 614934 (3)
| Chromosome 2p16.1-p15 deletion syndrome (4)
| {Asthma-related traits, susceptibility to, 3} (2)
| Carney complex, type II (2)
| Doyne honeycomb degeneration of retina, 126600 (3)
| Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
| Endometrial cancer, familial, 608089 (3)
| * 600678 MutS, E. COLI, HOMOLOG OF, 6| MSH6
| {Stature QTL 24} (2)
| {Dyslexia, susceptibility to, 3} (2)
| Glaucoma 1, open angle, H (2)
| * 613580 CHROMOSOME 2 OPEN READING FRAME 86| C2ORF86
| {Prostate cancer, hereditary, 12}, 611868 (3)
| Retinitis pigmentosa 28, 606068 (3)
| Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)
| Peroxisome biogenesis disorder 11B, 614885 (3)
| Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
| Aneurysm, intracranial berry, 5 (2)
| Hyperparathyroidism 3 (2)
| {Restless legs syndrome 7} (2)
| Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
| Methylmalonyl-CoA epimerase deficiency, 251120 (3)
| Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
| Myopathy, distal, with anterior tibial onset, 606768 (3)
| Miyoshi muscular dystrophy 1, 254130 (3)
| Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
| Visceral myopathy, 155310 (3)
| {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
| GAPO syndrome, 230740 (3)
| Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
| Congenital disorder of glycosylation, type IIb, 606056 (3)
| Microcephaly-capillary malformation syndrome, 614261 (3)
| Alstrom syndrome, 203800 (3)
| ?[Birbeck granule deficiency], 613393 (3)
| Neuropathy, distal hereditary motor, type VIIB, 607641 (3)
| {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
| Perry syndrome, 168605 (3)
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
| Myasthenia, congenital, with tubular aggregates 1, 610542 (3)
| Orofacial cleft-2 (2)
| Preeclampsia/eclampsia 1 (2)
| Parkinson disease 3 (2)
| Welander distal myopathy, 604454 (3)
| Welander distal myopathy (2)
| Cataract 27, nuclear progressive (2)
| CD8 deficiency, familial, 608957 (3)
| Deafness, autosomal dominant 43 (2)
| Wolcott-Rallison syndrome, 226980 (3)
| Premature ovarian failure 6, 612310 (3)
| Vitamin K-dependent coagulation defect, 277450 (3)
| Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
| [Kappa light chain deficiency], 614102 (3)
| Parkinson disease 13, 610297 (3)
| Chromosome 2p12-p11.2 deletion syndrome (4)
| Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
| [Handedness] (2)
| ?Deafness, autosomal recessive 88, 615429 (3)
| Spastic paraplegia 31, autosomal dominant, 610250 (3)
| Neuronopathy, distal hereditary motor, type VB, 614751 (3)
| Ribose 5-phosphate isomerase deficiency, 608611 (3)
| Amish infantile epilepsy syndrome, 609056 (3)
| Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
| Epilepsy, myoclonic, adult familial, 2 (2)
| Renal tubular acidosis with deafness, 267300 (3)
| Glaucoma 1B, primary open angle, adult onset, (2)
| {Autism susceptibility 5} (2)
| Pulmonary disease, chronic obstructive, severe early-onset (2)
| Achromatopsia-2, 216900 (3)
| * 613403 TRANSMEMBRANE PROTEIN 127| TMEM127
| {Celiac disease, susceptibility to, 8} (2)
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
| [Hair morphology 1, hair thickness], 612630 (3)
| {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
| Nanophthalmos 3 (2)
| * 613920 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 5| COA5
| Jalili syndrome, 217080 (3)
| Retinitis pigmentosa 33, 610359 (3)
| Selective T-cell defect, 269840 (3)
| Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)
| Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)
| Oculomotor apraxia, congenital, Cogan-type (2)
| Psoriasis, generalized pustular, 614204 (3)
| Nephronophthisis 1, juvenile, 256100 (3)
| Senior-Loken syndrome-1, 266900 (3)
| Joubert syndrome 4, 609583 (3)
| Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)
| Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
| Myopathy, centronuclear, autosomal recessive, 255200 (3)
| * 602452 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF|
| Holoprosencephaly-9, 610829 (3)
| Pallister-Hall syndrome 2, 615849 (3)
| {Gastric cancer risk after H. pylori infection}, 137215 (3)
| {Malaria, resistance to}, 611162 (3)
| [Blood group, Gerbich] (3)
| * 165320 LIVER CANCER ONCOGENE| LCO
| Cardiomyopathy, dilated, 1H (2)
| [Body mass index QTL13] (2)
| Retinitis pigmentosa 38, 613862 (3)
| * 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST| IL1RN

« Previous 100 items Next 100 items » 1 ... 5 6 7 8 9 10 11 ... 205

Document Actions

Send this