omimdefinitions

| {Rheumatoid arthritis, susceptibility to}, 180300 (3)
| Pyloric stenosis, infantile hypertrophic, 2 (2)
| Liddle syndrome, 177200 (3)
| * 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT| SCNN1B
| Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
| * 600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT| SCNN1G
| Pseudohypoaldosteronism, type I, 264350 (3)
| Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)
| Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
| Medullary cystic kidney disease 2, 603860 (3)
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
| Retinitis pigmentosa 22 (2)
| Deafness, autosomal recessive 22, 607039 (3)
| Chromosome 16p12.2-p11.2 deletion syndrome (4)
| Mental retardation, autosomal recessive 10/20 (2)
| Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
| * 147781 INTERLEUKIN 4 RECEPTOR| IL4R
| {AIDS, slow progression to}, 609423 (3)
| Mitral valve prolapse, myxomatous 1 (2)
| Glycogen storage disease IXc, 613027 (3)
| * 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2| PHKG2
| Brody myopathy, 601003 (3)
| Chromosome 16p12.1 deletion syndrome, 520kb (4)
| Major affective disorder 4 (2)
| Fanconi anemia, complementation group N, 610832 (3)
| * 610355 PARTNER AND LOCALIZER OF BRCA2| PALB2
| {Pancreatic cancer, susceptibility to, 3}, 613348 (3)
| Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
| ?Spastic paraplegia 61, autosomal recessive, 615685 (3)
| Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp (2)
| Bile acid synthesis defect, congenital, 1, 607765 (3)
| Glycogen storage disease XII, 611881 (3)
| Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
| Immunodeficiency, common variable, 3, 613493 (3)
| Immunodeficiency 8, 615401 (3)
| Chromosome 16p11.2 deletion syndrome, 220kb (4)
| [Body mass index QTL16] (4)
| Chromosome 16p11.2 deletion syndrome, 593kb (4)
| {Autism susceptibility 14A} (2)
| Chromosome 16p11.2 duplication syndrome (4)
| {Autism, susceptibility to, 14B} (2)
| Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, 608030 (3)
| Tremor, hereditary essential, 4, 614782 (3)
| {Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)
| Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
| Episodic kinesigenic dyskinesia 1, 128200 (3)
| Seizures, benign familial infantile, 2, 605751 (3)
| Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)
| Floating-Harbor syndrome, 136140 (3)
| Renal glucosuria, 233100 (3)
| ?Spondylocostal dysostosis 5, autosomal dominant, 122600 (3)
| Combined oxidative phosphorylation deficiency 4, 610678 (3)
| Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
| * 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1| VKORC1
| * 605383 INTERLEUKIN 21 RECEPTOR| IL21R
| Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 (3)
| Congenital disorder of glycosylation, type IIe, 608779 (3)
| Mucolipidosis III gamma, 252605 (3)
| {Inflammatory bowel disease 8} (2)
| {Psoriasis susceptibility 8} (2)
| Specific language impairment QTL, 1 (2)
| Wilms tumor, type 3 (2)
| Alopecia areata 2 (2)
| Dupuytren contracture 1 (2)
| Hamamy syndrome, 611174 (3)
| * 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2| NOD2
| Blau syndrome, 186580 (3)
| {Psoriatic arthritis, susceptibility to}, 607507 (3)
| Sarcoidosis, early-onset, 609464 (3)
| Meier-Gorlin syndrome 3, 613803 (3)
| Parkinson disease 17, 614203 (3)
| Nephronophthisis 14, 614844 (3)
| * 604557 ZINC FINGER PROTEIN 423| ZNF423
| Cylindromatosis, familial, 132700 (3)
| Brooke-Spiegler syndrome, 605041 (3)
| Trichoepithelioma, multiple familial, 1, 601606 (3)
| Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)
| Spiegler-Brooke syndrome (2)
| [Earwax, wet/dry], 117800 (3)
| * 607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11| ABCC11
| [Colostrum secretion, variation in], 117800 (3)
| Townes-Brocks syndrome, 107480 (3)
| * 602218 SAL-LIKE 1| SALL1
| Tooth agenesis, selective, 2 (2)
| Stuttering, familial persistent, 4 (2)
| [Body mass index QTL14] (2)
| Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
| Joubert syndrome 7, 611560 (3)
| Meckel syndrome 5, 611561 (3)
| * 610937 RPGRIP1-LIKE| RPGRIP1L
| Orthostatic intolerance, 604715 (3)
| Retinitis pigmentosa with or without situs inversus, 615434 (3)
| Poikiloderma with neutropenia, 604173 (3)
| Retinitis pigmentosa 45, 613767 (3)
| Coenzyme Q10 deficiency, primary, 5, 614654 (3)
| Epileptic encephalopathy, early infantile, 17, 615473 (3)
| Polymicrogyria, bilateral frontoparietal, 606854 (3)
| Polymicrogyria, bilateral perisylvian, 615752 (3)
| Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
| Gitelman syndrome, 263800 (3)

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