Select item 41523 Type 2 diabetes mellitus DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST Diabetes mellitus, noninsulin-dependent, late onset KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus Type II diabetes mellitus Select item 44252 Short-rib thoracic dysplasia 6 with or without polydactyly Majewski Syndrome POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II Polydactyly with neonatal chondrodystrophy type 2 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA SHORT-RIB THORACIC DYSPLASIA 6 WITH POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 6 WITHOUT POLYDACTYLY Select item 394544 Retinitis pigmentosa 2 Retinitis pigmentosa 2, X linked Select item 11313 Sandhoff disease Beta-hexosaminidase-beta-subunit deficiency GM2 gangliosidosis, type 2 GM2-GANGLIOSIDOSIS, TYPE II HEXOSAMINIDASES A AND B DEFICIENCY Hexosaminidase A and B deficiency Disease Sandhoff-Jatzkewitz-Pilz disease Total hexosaminidase deficiency Select item 767448 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 Select item 48574 Schizophrenia Select item 342947 Charcot-Marie-Tooth disease axonal type 2C CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C Charcot-Marie-Tooth Neuropathy Type 2C Charcot-Marie-Tooth disease type 2C Hereditary motor and sensory neuropathy 2 C Select item 7049 Incontinentia pigmenti syndrome Bloch-Sulzberger syndrome INCONTINENTIA PIGMENTI, TYPE II IP2 (formerly) Incontinentia Pigmenti Incontinentia pigmenti type 2 (formerly) Incontinentia pigmenti, familial male-lethal type Select item 148243 Severe myoclonic epilepsy in infancy DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A Dravet syndrome Epilepsy, Myoclonic, Infantile, Severe Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) Select item 400963 Cone-rod dystrophy 6 Cone dystrophy progressive Retinal cone dystrophy 2 Select item 338045 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Mitochondrial DNA depletion syndrome type 6 Navajo neurohepatopathy Navajo neuropathy Select item 6009 Langer-Giedion syndrome CHROMOSOME 8q24.1 DELETION SYNDROME Deletion 8q24.1 Monosomy 8q24.1 TRPS 2 Trichorhinophalangeal syndrome type 2 Trichorhinophalangeal syndrome type II Select item 140751 Familial infantile myasthenia CHAT-Related Congenital Myasthenic Syndrome Congenital myasthenic syndrome 6 Congenital myasthenic syndrome with episodic apnea FIMG2 (formerly) MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC Myasthenic syndrome congenital associated with episodic apnea Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea Select item 449382 Nonpapillary renal cell carcinoma Select item 863175 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SOMATIC Select item 5288 Fucosidosis Alpha-l-fucosidase deficiency Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues Select item 924303 Sialidosis type 2 CHERRY RED SPOT--MYOCLONUS SYNDROME Glycoprotein neuraminidase deficiency Lipomucopolysaccharidosis ML I Mucolipidosis I Mucolipidosis type 1 NEU 1 deficiency NEU DEFICIENCY Neuraminidase 1 deficiency Neuraminidase deficiency Sialidase deficiency Sialidosis, type II Select item 419918 Diamond-Blackfan anemia 6 Aase-Smith syndrome II RPL5-Related Diamond-Blackfan Anemia Select item 396229 Cataract 6 multiple types CATARACT 6, CONGENITAL TOTAL CATARACT 6, POSTERIOR POLAR CATARACT, AGE-RELATED CORTICAL, 2 Cataract, posterior polar, 1 Select item 463613 Spondyloepimetaphyseal dysplasia, Maroteaux type PSEUDO-MORQUIO SYNDROME, TYPE 2 SED, Maroteaux type Spondyloepiphyseal dysplasia Maroteaux type 
