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 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 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 811346 Meckel syndrome, type 1 MECKEL-GRUBER SYNDROME, TYPE 1 MKS1-Related Meckel Syndrome 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 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 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 42164 Gaucher disease Acute cerebral Gaucher disease Cerebroside lipidosis syndrome Gaucher splenomegaly Glucocerebrosidosis Glucosyl cerebroside lipidosis Glucosylceramidase deficiency Kerasin lipoidosis Kerasin thesaurismosis Sphingolipidosis 1 Select item 220393 von Willebrand disease type 1 VON WILLEBRAND DISEASE, TYPE I VWD, TYPE 1 Select item 1645741 Autosomal dominant centronuclear myopathy MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT Myopathy, centronuclear, 1 Myopathy, centronuclear, 3 Select item 422452 Bardet-Biedl syndrome 1 Select item 401352 Porokeratosis 3, disseminated superficial actinic type POROKERATOSIS 3, MIBELLI TYPE POROKERATOSIS 3, MULTIPLE TYPES POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 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 343561 Exudative vitreoretinopathy 1 Criswick-Schepens syndrome FEVR, AUTOSOMAL DOMINANT FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Familial exudative vitreoretinopathy, autosomal dominant 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 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 332156 Susceptibility to HIV infection HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO Human immunodeficiency virus type 1, susceptibility to Select item 39125 Polyglandular autoimmune syndrome, type 1 APS 1 APS I AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA Autoimmune Polyendocrinopathy Syndrome Type 1 Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy syndrome, type I Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis PGA 1 PGA I Whitaker syndrome Select item 334304 Alzheimer disease 3 ALZHEIMER DISEASE, FAMILIAL, 3 Alzheimer disease early onset type 3 Select item 343406 Nephronophthisis 1 Nephronophthisis familial juvenile 
