Select item 5340 Glycogen storage disease, type II ACID ALPHA-GLUCOSIDASE DEFICIENCY Acid maltase deficiency disease Aglucosidase alfa Alpha-1,4-glucosidase deficiency Cardiomegalia glycogenica diffusa Deficiency of alpha-glucosidase Deficiency of lysosomal alpha-glucosidase GLYCOGENOSIS, GENERALIZED, CARDIAC FORM GSD II Glucosidase acid-1,4-alpha deficiency Glycogen Storage Disease Type II (Pompe Disease) Glycogen storage disease type 2 POMPE DISEASE Select item 358380 Nephrotic syndrome, type 2 Hereditary nephrotic syndrome Nephrotic syndrome, steroid-resistant, autosomal recessive 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 357030 Griscelli syndrome type 2 Griscelli syndrome with hemophagocytic syndrome Partial albinism and immunodeficiency syndrome Select item 61440 Pelizaeus-Merzbacher disease LEUKODYSTROPHY, HYPOMYELINATING, 1 Pelizaeus Merzbacher brain sclerosis Pelizeaus-Merzbacher spectrum disorder Sudanophilic leukodystrophy Select item 907954 Congenital hyperammonemia, type I CPS 1 deficiency CPS I DEFICIENCY Carbamoyl phosphate synthetase 1 deficiency Carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthase I deficiency Carbamyl phosphate synthetase (CPS) deficiency Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency Select item 1748867 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 Select item 220393 von Willebrand disease type 1 VON WILLEBRAND DISEASE, TYPE I VWD, TYPE 1 Select item 1637664 Idiopathic basal ganglia calcification 1 Basal ganglia calcification, idiopathic, 3 Cerebral calcification nonarteriosclerotic idiopathic adult-onset Fahr disease, familial (formerly) Fahr's syndrome Familial Idiopathic Basal Ganglia Calcification Familial Idiopathic Basal Ganglia Calcification 2 Familial Idiopathic Basal Ganglia Calcification 3 Ferrocalcinosis, cerebrovascular Primary Familial Brain Calcification 1 Primary Familial Brain Calcification 2 Primary Familial Brain Calcification 3 Striopallidodentate calcinosis autosomal dominant adult-onset Select item 41522 Diabetes mellitus type 1 Select item 358391 Autosomal recessive limb-girdle muscular dystrophy type 2A Calpainopathy Leyden-Moebius muscular dystrophy Limb-girdle muscular dystrophy type 2 Limb-girdle muscular dystrophy, type 2A Muscular dystrophy, limb-girdle, type 2A, Amish Muscular dystrophy, pelvofemoral Select item 9730 Acute myeloid leukemia AML adult Acute granulocytic leukemia Acute myelogenous leukemia Acute myeloid leukemia, adult Acute non-lymphocytic leukemia Familial Acute Myelocytic Leukemia Leukemia, acute myelogenous, somatic Leukemia, acute myeloid, somatic Select item 78542 Oto-palato-digital syndrome, type I OPD I SYNDROME OPD syndrome OPD syndrome 1 Oto-palato-digital syndrome type 1 Otopalatodigital Syndrome, Type I Taybi syndrome Select item 923943 Frontometaphyseal dysplasia 1 Select item 468531 Hemoglobin H disease ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE HEMOGLOBIN H DISEASE, DELETIONAL Select item 330866 Childhood onset GLUT1 deficiency syndrome 2 Dystonia 18 GLUT1 deficiency syndrome 2 PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA Paroxysmal exercise-induced dystonia Paroxysmal exertion-induced dyskinesia PxMD-SLC2A1 Select item 61232 Sotos syndrome CHROMOSOME 5q35 DELETION SYNDROME Cerebral gigantism Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development SOTOS SYNDROME 1 Sotos' syndrome Select item 419663 Chromosomes 1 and 2, monosomy 2q duplication 1p Deletion 2q duplication 1p Monosomy 2q duplication 1p Select item 1814582 Mitochondrial complex II deficiency, nuclear type 1 Complex 2 mitochondrial respiratory chain deficiency Mitochondrial Respiratory Chain Complex II Deficiency Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related Mitochondrial complex II deficiency Succinate CoQ reductase deficiency Select item 336749 Hearing loss, X-linked 1 DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL DFNX1 Nonsyndromic Hearing Loss and Deafness Deafness, X-linked 1 
