Select item 337637 Spinocerebellar ataxia type 17 Cerebelloparenchymal disorder II HUNTINGTON DISEASE-LIKE 4 Olivopontocerebellar atrophy 5 Olivopontocerebellar atrophy V SCA 17 Spinocerebellar Ataxia Type17 Select item 68663 Mucolipidosis type IV ML 4 ML IV Mucolipidosis type 4 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 340341 Pyridoxine-dependent epilepsy EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT Pyridoxine dependency Pyridoxine dependency with seizures Pyridoxine-Dependent Seizures Vitamin B6-dependent seizures Select item 384027 Pontocerebellar hypoplasia type 4 Encephalopathy fatal infantile with olivopontocerebellar hypoplasia TSEN54-Related Pontocerebellar Hypoplasia Select item 765467 Hypogonadotropic hypogonadism 5 with or without anosmia HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 5 WITH ANOSMIA Kallmann syndrome 5 Select item 82783 Deficiency of steroid 11-beta-monooxygenase 11-alpha beta-hydroxylase deficiency 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 11-beta-hydroxylase deficiency ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Adrenal hyperplasia 4 Adrenal hyperplasia IV Adrenal hyperplasia hypertensive form Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency P450c11b1 deficiency Steroid 11-beta-hydroxylase deficiency Select item 301243 Finnish type amyloidosis AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE Amyloid cranial neuropathy with lattice corneal dystrophy Amyloidosis 5 Amyloidosis V Amyloidosis due to mutant gelsolin Amyloidosis, familial, Finnish type Lattice corneal dystrophy associated with familial systemic amyloidosis Lattice dystrophy of the cornea with hereditary generalized amyloidosis Meretoja type amyloidosis Meretoja's syndrome 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 436375 Hereditary spherocytosis type 4 Hemolytic Anemia due to Band 3 Montefiore SLC4A1-Related Hereditary Spherocytosis SLC4A1-Related Spherocytosis Spherocytosis type 4 Select item 338324 Oculocutaneous albinism type 4 Albinism, oculocutaneous, type IV Select item 481368 Hereditary spastic paraplegia 47 Cerebral palsy, spastic quadriplegic, 5 Spastic paraplegia 47, autosomal recessive adaptor protein 4 (AP-4) deficiency syndrome Select item 861910 Epilepsy, idiopathic generalized, susceptibility to, 13 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 Epilepsy, juvenile myoclonic 5 Select item 341845 Pontocerebellar hypoplasia type 5 Olivopontocerebellar hypoplasia fetal-onset Select item 318863 Maturity-onset diabetes of the young type 4 Diabetes mellitus MODY type 4 MODY insulin promoter factor-1 related MODY type 4 MODY, type IV Maturity-onset diabetes of the young, type IV Select item 350245 Familial hemophagocytic lymphohistiocytosis 4 Select item 388039 Congenital bile acid synthesis defect 4 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid to cholic acid Select item 376164 Multiple epiphyseal dysplasia type 4 Multiple Epiphyseal Dysplasia, Recessive Multiple epiphyseal dysplasia with bilayered patellae Multiple epiphyseal dysplasia with clubfoot Multiple epiphyseal dysplasia with double-layered patella Multiple epiphyseal dysplasia, autosomal recessive Select item 1648293 Thyroid cancer, nonmedullary, 1 Nonmedullary thyroid carcinoma 1 Select item 767570 Dyskeratosis congenita, autosomal recessive 5 
