Select item 394222 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN EYE COLOR 1 EYE COLOR, GREEN/BLUE SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING Skin/hair/eye pigmentation, variation in, 3 Select item 78653 Gaucher disease type III GD 3 GD III Gaucher Disease Type 3 (Subacute/Chronic) Gaucher Disease, Type 3 Gaucher disease, chronic neuronopathic type Gaucher disease, juvenile and adult, cerebral Gaucher disease, subacute neuronopathic type Subacute neuronopathic Gaucher's disease Select item 199598 UDPglucose-4-epimerase deficiency Epimerase Deficiency Galactosemia GALACTOSEMIA III Galactose epimerase deficiency Galactosemia 3 UDP-Galactose-4-epimerase deficiency UDPglucose 4-Epimerase Deficiency Disease Select item 394534 Axenfeld-Rieger syndrome type 3 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS Anterior chamber cleavage syndrome Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss Rieger syndrome type 3 Select item 78691 3-methylcrotonyl-CoA carboxylase 1 deficiency 3 Alpha methylcrotonylglycinuria 1 MCC 1 deficiency MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCD TYPE 1 METHYLCROTONYLGLYCINURIA TYPE I Select item 419393 Hereditary spastic paraplegia 3A FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT SPG3 Spastic Paraplegia 3A Spastic paraplegia 3 Spastic paraplegia 3A, autosomal dominant Strumpell disease Select item 401352 Porokeratosis 3, disseminated superficial actinic type POROKERATOSIS 3, MIBELLI TYPE POROKERATOSIS 3, MULTIPLE TYPES Porokeratosis, disseminated superficial actinic 1 Select item 409531 Gaucher disease type I Acid beta-glucosidase deficiency GBA DEFICIENCY GD 1 GD I Gaucher disease type 1 Gaucher disease, noncerebral juvenile Gaucher's disease, type 1 Glucocerebrosidase deficiency Select item 90994 3-methylglutaconic aciduria type 1 3 alpha methylglutaconic aciduria type I 3 methylglutaconic aciduria type I 3 methylglutaconyl CoA hydratase deficiency 3MG CoA hydratase deficiency MGA type I Select item 266075 von Willebrand disease type 3 Type 3 VWD Type 3 Von Willebrand's disease V WD3 VON WILLEBRAND DISEASE, TYPE III Von Willebrand disease, recessive form Von Willebrand disease, severe form Select item 334304 Alzheimer disease 3 ALZHEIMER DISEASE, FAMILIAL, 3 Alzheimer disease early onset type 3 Select item 19860 Asphyxiating thoracic dystrophy 3 POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I Polydactyly with neonatal chondrodystrophy type 1 Polydactyly with neonatal chondrodystrophy type III SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, DIGENIC SRPS type 1 SRPS type 3 Saldino-Noonan Syndrome Short Rib Polydactyly Syndrome, Verma-Naumoff Type Short rib polydactyly syndrome 2B Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome Saldino-Noonan type Short rib-polydactyly syndrome type 1 Short-rib polydactyly syndrome type I Short-rib polydactyly syndrome type III Short-rib thoracic dysplasia 3 with or without polydactyly Verma Naumoff syndrome Select item 340413 Achromatopsia 3 ACHM1 (formerly) Achromatopsia with myopia Pingelapese blindness RMCH1 (formerly) ROD MONOCHROMACY 1 ROD MONOCHROMATISM 1 Rod monochromacy 1 (formerly) Rod monochromatism 1 (formerly) Total colorblindness with myopia 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 1645741 Autosomal dominant centronuclear myopathy MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT Myopathy, centronuclear, 1 Myopathy, centronuclear, 3 Select item 6641 Glycogen storage disease type III Amylo-1,6-glucosidase deficiency Cori disease Forbes disease Glycogen debrancher deficiency Glycogen storage disease type 3 Limit dextrinosis Select item 335399 Bartter disease type 3 Bartter syndrome classic Bartter syndrome type 3 Select item 340200 Paragangliomas 3 Glomus tumors, familial, 3 PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3) Select item 811346 Meckel syndrome, type 1 MECKEL-GRUBER SYNDROME, TYPE 1 MKS1-Related Meckel Syndrome Select item 98047 Eichsfeld type congenital muscular dystrophy CONGENITAL MYOPATHY 3 WITH RIGID SPINE MYOPATHY, SEPN1-RELATED Rigid spine muscular dystrophy 1 
