Select item 155703 Spinocerebellar ataxia type 1 CEREBELLOPARENCHYMAL DISORDER I Cerebelloparenchymal disorder 1 OLIVOPONTOCEREBELLAR ATROPHY I OLIVOPONTOCEREBELLAR ATROPHY IV Olivopontocerebellar atrophy 1 Olivopontocerebellar atrophy 4 SPINOCEREBELLAR ATROPHY I Spinocerebellar atrophy 1 Select item 1750917 Mitochondrial complex IV deficiency, nuclear type 1 COX deficiency Complex 4 mitochondrial respiratory chain deficiency Complex IV deficiency Deficiency of mitochondrial respiratory chain complex4 Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency Mitochondrial Respiratory Chain Complex IV Deficiency Mitochondrial Respiratory Chain Complex IV Deficiency (mitochondrial genes) Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) Mitochondrial complex IV deficiency Select item 376309 Heterotopia, periventricular, X-linked dominant HETEROTOPIA, PERIVENTRICULAR, 1 Heterotopia familial nodular Nodular heterotopia bilateral periventricular PERIVENTRICULAR NODULAR HETEROTOPIA 1 PERIVENTRICULAR NODULAR HETEROTOPIA 4 X-linked periventricular heterotopia Select item 400313 Hypercholesterolemia, familial, 4 Familial Hypercholesterolemia, Autosomal Recessive HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2 Hypercholesterolemia, autosomal recessive Select item 349380 Paragangliomas 4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 Paraganglioma, familial malignant Paragangliomas, hereditary extraadrenal Pheochromocytoma, extraadrenal and cervical paraganglioma Pheochromocytoma, familial extraadrenal SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 4) 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 373469 Multiple endocrine neoplasia type 4 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV 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 761234 Autosomal recessive nonsyndromic hearing loss 4 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC Deafness, autosomal recessive 4 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Enlarged vestibular aqueduct, digenic FOXI1-Related Pendred Syndrome KCNJ10-Related Pendred Syndrome NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 Nonsyndromic enlarged vestibular aqueduct (NSEVA) Select item 162898 Microphthalmia, syndromic 1 ANOP1 Microphthalmia syndromic 4 Select item 376072 Alzheimer disease 4 Alzheimer Disease Risk Factor (APOE Genotype) Alzheimer disease familial type 4 Select item 295872 Hypogonadotropic hypogonadism 1 with or without anosmia DYSPLASIA OLFACTOGENITALIS OF DE MORSIER HYPOGONADOTROPIC HYPOGONADISM 1 WITH ANOSMIA HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Kallmann syndrome 1 Kallmann syndrome, X-linked Kallmann syndrome, type 1, X-linked Select item 137902 Autosomal dominant optic atrophy classic form Kjer-type optic atrophy Optic Atrophy Type 1 Optic atrophy, juvenile Select item 6642 Glycogen storage disease, type IV Amylopectinosis Andersen disease Brancher deficiency Cirrhosis, familial, with deposition of abnormal glycogen GBE1 DEFICIENCY GLYCOGENOSIS IV GSD 4 GSD IV Glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease type 4 Glycogenosis 4 Select item 481790 Encephalopathy, acute, infection-induced, susceptibility to, 4 Select item 357420 Polysyndactyly 4 Polysyndactyly uncomplicated Preaxial Polydactyly Type IV Preaxial polydactyly 4 Select item 48574 Schizophrenia Select item 6915 Hereditary insensitivity to pain with anhidrosis FAMILIAL DYSAUTONOMIA, TYPE II Familial dysautonomia, type 2 HSAN 4 HSAN Type IV Hereditary Sensory and Autonomic Neuropathy Type IV Hereditary sensory and autonomic neuropathy 4 Insensitivity to pain, congenital, with anhidrosis Neuropathy, congenital sensory, with anhidrosis Select item 1648293 Thyroid cancer, nonmedullary, 1 Nonmedullary thyroid carcinoma 1 Select item 11161 Phytanic acid storage disease Disorder of cornification 11 (phytanic acid type) Doc 11 (phytanic acid type) HMSN 4 HMSN IV Herditary sensory and motor neuropathy type 4 Heredopathia atactica polyneuritiformis Hypertrophic neuropathy of Refsum PEX7-Related Refsum Disease PHYH-Related Refsum Disease Phytanic acid oxidase deficiency REFSUM DISEASE, CLASSIC Refsum Disease 
