omimdefinitions

| Febrile seizures, familial, 6 (2)
| Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
| Spinocerebellar ataxia 28, 610246 (3)
| Ataxia, spastic, 5, autosomal recessive, 614487 (3)
| Hypotrichosis 1, 605389 (3)
| Dystonia-15, myoclonic (2)
| {Inflammatory bowel disease 21} (2)
| Chromosome 18p deletion syndrome (4)
| Dystonia-7, torsion (2)
| Majeed syndrome, 609628 (3)
| {Major affective disorder 1} (2)
| {Schizophrenia}, 181500 (2)
| Tetrasomy 18p (4)
| Chromosome 18q deletion syndrome (4)
| Orthostatic hypotensive disorder of Streeten (2)
| Niemann-Pick disease, type C1, 257220 (3)
| * 607623 NPC1 GENE| NPC1
| [Blood group, Kidd], 111000 (3)
| Atrioventricular septal defect 5, 614474 (3)
| Atrial septal defect 9, 614475 (3)
| Pancreatic agenesis and congenital heart defects, 600001 (3)
| * 601656 GATA-BINDING PROTEIN 6| GATA6
| Tetralogy of Fallot, 187500 (3)
| Scalp-ear-nipple syndrome, 181270 (3)
| * 600805 LAMININ, ALPHA-3| LAMA3
| Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
| Laryngoonychocutaneous syndrome, 245660 (3)
| Left ventricular noncompaction 7, 615092 (3)
| * 604124 RETINOBLASTOMA-BINDING PROTEIN 8| RBBP8
| Seckel syndrome 2, 606744 (3)
| Jawad syndrome, 251255 (3)
| * 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18| SS18
| ?Spermatogenic failure 13, 615841 (3)
| Amyloidosis, hereditary, transthyretin-related, 105210 (3)
| [Dystransthyretinemic hyperthyroxinemia], 145680 (3)
| Carpal tunnel syndrome, familial, 115430 (3)
| Alopecia-mental retardation syndrome 3 (2)
| Hypotrichosis 6, 607903 (3)
| Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
| ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)
| Deafness, autosomal recessive 77, 613079 (3)
| Dyggve-Melchior-Clausen disease, 223800 (3)
| Smith-McCort dysplasia, 607326 (3)
| Bainbridge-Ropers syndrome, 615485 (3)
| Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
| * 125645 DESMOCOLLIN 2| DSC2
| Hypotrichosis and recurrent skin vesicles, 613102 (3)
| Keratosis palmoplantaris striata I, AD, 148700 (3)
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
| Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
| Cardiomyopathy, dilated, 1BB, 612877 (3)
| Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
| Optic atrophy-4 (2)
| Vesicoureteral reflux 6 (2)
| Vici syndrome, 242840 (3)
| Cholestasis, progressive familial intrahepatic 1, 211600 (3)
| Cholestasis, benign recurrent intrahepatic, 243300 (3)
| Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
| Amyotrophic lateral sclerosis 3 (2)
| {Diabetes mellitus, insulin-dependent, 6} (2)
| Immunodeficiency 12, 615468 (3)
| * 154270 MALIC ENZYME 2| ME2
| {Opioid dependence, susceptibility to}, 610064 (3)
| Microvillus inclusion disease, 251850 (3)
| Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
| * 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4| SMAD4
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
| Myhre syndrome, 139210 (3)
| Polyposis, juvenile intestinal, 174900 (3)
| Schinzel-Giedion midface retraction syndrome, 269150 (3)
| {Colorectal cancer, susceptibility to, 3}, 612229 (3)
| Cone-rod retinal dystrophy-1 (2)
| {Hypertension, essential, susceptibility to, 8} (2)
| Pitt-Hopkins syndrome, 610954 (3)
| Corneal dystrophy, Fuchs endothelial, 3 (2)
| Leukemia/lymphoma, B-cell, 2 (3)
| Carnosinemia (2)
| Mirror movements 1, 157600 (3)
| * 120470 DELETED IN COLORECTAL CARCINOMA| DCC
| Esophageal carcinoma, somatic 133239 (3)
| Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)
| * 136440 FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1| FVT1
| Microphthalmia, isolated 3, 611038 (3)
| Palmoplantar keratoderma, Nagashima type, 615598 (3)
| Combined factor V and VIII deficiency, 227300 (3)
| Hennekam lymphangiectasia-lymphedema syndrome, 235510 (3)
| Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
| Chromosome 18 pericentric inversion (4)
| * 155541 MELANOCORTIN 4 RECEPTOR| MC4R
| Osteolysis, familial expansile, 174810 (3)
| * 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A| TNFRSF11A
| Osteopetrosis, autosomal recessive 7, 612301 (3)
| Ectodermal dysplasia 8, hair/tooth/nail type (2)
| Polymicrogyria with seizures, 614833 (3)
| Aural atresia, congenital, 607842 (3)
| Aural atresia, congenital (2)
| Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
| Methemoglobinemia, type IV, 250790 (3)
| Hyperpigmentation, familial progressive, 1 (2)
| ?Spinocerebellar ataxia 26, 609306 (3)

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