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 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 468531 Hemoglobin H disease ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE HEMOGLOBIN H DISEASE, DELETIONAL 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 208670 Renpenning syndrome GOLABI-ITO-HALL SYNDROME MENTAL RETARDATION, X-LINKED 55 Mental retardation, X-linked Renpenning type Mental retardation, X-linked, syndromic 8 Renpenning syndrome 1 Sutherland-Haan X-linked mental retardation syndrome Sutherland-Haan syndrome X-linked mental retardation syndromic 3 X-linked mental retardation with spastic diplegia Select item 777997 Actin accumulation myopathy CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT Myopathy, actin, congenital, with cores Myopathy, actin, congenital, with excess of thin myofilaments Nemaline myopathy 3, with intranuclear rods Nemaline myopathy caused by mutation in the alpha-actin gene Nemaline myopathy type 3 Select item 355748 Anterior segment dysgenesis 3 Glaucoma iridogoniodysplasia, familial IGDA syndrome Iridogoniodysgenesis anomaly, Autosomal dominant Iridogoniodysgenesis type1 Iridogoniodysgenesis, Type 1 Select item 347326 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES BROWN EYE COLOR 2 EYE COLOR 3 EYE COLOR, BLUE/NONBLUE EYE COLOR, BROWN/BLUE HAIR COLOR 3 SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES Skin/hair/eye pigmentation, variation in, 1 Select item 220393 von Willebrand disease type 1 VON WILLEBRAND DISEASE, TYPE I VWD, TYPE 1 Select item 481405 Multiple congenital anomalies-hypotonia-seizures syndrome 1 Congenital disorder of glycosylation due to PIGN deficiency GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3 PIGN-CDG Select item 346653 Hereditary angioedema type 3 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ESTROGEN-RELATED HAE ESTROGEN-SENSITIVE HAE HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION Hereditary angioedema, type III Select item 3710 Dejerine-Sottas disease Charcot-Marie-Tooth disease type 3 Dejerine-Sottas neuropathy HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III HMSN Type III Hereditary motor and sensory neuropathy 3 Hypertrophic neuropathy of Dejerine-Sottas Select item 48574 Schizophrenia 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 343406 Nephronophthisis 1 Nephronophthisis familial juvenile 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 1840525 Congenital myopathy 4B, autosomal recessive Nemaline myopathy 1, autosomal dominant or recessive Nemaline myopathy caused by mutation in the tropomyosin 3 gene Select item 355007 Hypercholesterolemia, autosomal dominant, 3 Familial Hypercholesterolemia, Autosomal Dominant, 3 Familial hypercholesterolemia 3 PCSK9-Related Familial Hypercholesterolemia, Autosomal Dominant 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 7467 Deficiency of alpha-mannosidase Alpha mannosidase B deficiency Alpha-Mannosidosis Lysosomal alpha-D-mannosidase deficiency Mannosidosis, alpha B lysosomal 
