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 45811 Familial Mediterranean fever Benign paroxysmal peritonitis Familial Mediterranean Fever Type 1 Familial Mediterranean Fever Type 2 POLYSEROSITIS, FAMILIAL PAROXYSMAL POLYSEROSITIS, RECURRENT Periodic disease Periodic peritonitis Select item 138111 PMM2-congenital disorder of glycosylation CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia CDG 1A CDG Ia Carbohydrate-deficient glycoprotein syndrome type 1A Carbohydrate-deficient glycoprotein syndrome type 1A (formerly) Congenital disorder of glycosylation type 1A Congenital disorder of glycosylation, type Ia Jaeken syndrome PMM2-CDG PMM2-CDG (CDG-Ia) Phosphomannomutase 2 deficiency Select item 152875 Hypercholesterolemia, familial, 1 Fredrickson type IIa hyperlipoproteinemia HYPER-LOW-DENSITY-LIPOPROTEINEMIA HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL Hyper-beta-lipoproteinemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type IIa Hyperlipoproteinemia type 2 LDL RECEPTOR DISORDER LDLR-Related Familial Hypercholesterolemia, Autosomal Dominant Select item 78652 Gaucher disease type II Acute neuronopathic Gaucher's disease GD 2 GD II Gaucher Disease Type 2 (Acute) Gaucher disease type 2 Gaucher disease, acute neuronopathic type Gaucher disease, infantile cerebral Select item 21921 Wiskott-Aldrich syndrome Aldrich syndrome Eczema thrombocytopenia immunodeficiency syndrome IMD 2 Immunodeficiency 2 WISKOTT-ALDRICH SYNDROME 1 Wiskott-aldrich syndrome, somatic 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 224736 von Willebrand disease type 2 VON WILLEBRAND DISEASE, TYPE 2A/IIE VON WILLEBRAND DISEASE, TYPE 2CB VON WILLEBRAND DISEASE, TYPE II VWD, TYPE 2 Select item 338072 Atelosteogenesis type II Atelosteogenesis type 2 NEONATAL OSSEOUS DYSPLASIA I Neonatal osseous dysplasia 1 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 337064 Oto-palato-digital syndrome, type II Andre syndrome Cranio-oro-digital syndrome Faciopalatoosseous syndrome OPD 2 syndrome OPD II SYNDROME Oto-palato-digital syndrome type 2 Otopalatodigital Syndrome, Type II Select item 341253 Methylmalonic aciduria and homocystinuria type cblD METHYLMALONIC ACIDEMIA, cblH TYPE Methylmalonic acidemia with homocystinuria cblD Methylmalonic aciduria with homocystinuria cblD type cblD (variant 1) cblD (variant 2) Select item 336322 Dent disease type 1 NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED Nephrolithiasis 2 Nephrolithiasis, hypercalciuria X-linked Nephrolithiasis, hypercalciuric Urolithiasis, hypercalciuric X-linked Select item 354526 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy 2 Lipodystrophy, familial, of limbs and lower trunk Lipodystrophy, reverse partial Partial lipodystrophy, Dunnigan Select item 414167 Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly AHUS, SUSCEPTIBILITY TO, 2 Atypical hemolytic-uremic syndrome 2 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 Select item 1645893 Familial juvenile hyperuricemic nephropathy type 1 Glomerulocystic kidney disease with hyperuricemia and isosthenuria Medullary cystic kidney disease 2 Medullary cystic kidney disease 2, autosomal dominant TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 UMOD-Associated Kidney Disease Uromodulin-associated kidney disease Select item 854172 Glycogen storage disease IXa1 GSD VIII Glycogen storage disease 8 Glycogenosis type 8 Hepatic phosphorylase kinase deficiency LIVER GLYCOGENOSIS, X-LINKED, TYPE I PHKA2-Related Phosphorylase Kinase Deficiency Phosphorylase kinase deficiency of liver X-linked Liver Glycogenosis Type 1 X-linked Liver Glycogenosis Type 2 Select item 340052 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia with Oculomotor Apraxia Ataxia with Oculomotor Apraxia 2 Ataxia-ocular apraxia-2 Ataxia-oculomotor apraxia 2 Select item 811346 Meckel syndrome, type 1 MECKEL-GRUBER SYNDROME, TYPE 1 MKS1-Related Meckel Syndrome Select item 400313 Hypercholesterolemia, familial, 4 Familial Hypercholesterolemia, Autosomal Recessive HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 Hypercholesterolemia, autosomal recessive 
