Select item 442875 Atypical hemolytic-uremic syndrome with C3 anomaly AHUS, SUSCEPTIBILITY TO, 5 Atypical hemolytic-uremic syndrome 5 Select item 382137 Skin/hair/eye pigmentation, variation in, 5 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES Select item 96569 Renal cysts and diabetes syndrome FJHN atypical Familial hypoplastic, glomerulocystic kidney Glomerulocystic kidney disease, hypoplastic type Hyperuricemic nephropathy, familial juvenile, atypical MODY type 5 Maturity-onset diabetes of the young, type 5 Select item 318886 Lynch syndrome 5 Colorectal cancer, hereditary nonpolyposis, type 5 Hereditary non-polyposis colorectal cancer, type 5 Select item 374254 Charcot-Marie-Tooth disease X-linked recessive 5 Charcot-Marie-Tooth Neuropathy X Type 5 Familial opticoacoustic nerve degeneration and polyneuropathy Optic atrophy polyneuropathy deafness Optic atrophy, neural deafness, and distal neurogenic amyotrophy Optic atrophy, polyneuropathy, and deafness Optic atrophy, sensorineural hearing loss and polyneuropathy PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Rosenberg Chutorian syndrome Select item 462064 Fasting plasma glucose level quantitative trait locus 5 Select item 419839 Chromosome 5, trisomy 5p Chromosome 5, Trisomy 5p, Complete (5p11-pter) Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter) Chromosome 5p syndrome Select item 1770239 X-linked lymphoproliferative disease due to SH2D1A deficiency Duncan disease Duncan's syndrome EBV infection severe susceptibility to Epstein Barr virus infection familial fatal IMMUNODEFICIENCY 5 IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO Lymphoproliferative syndrome 1, X-linked Purtilo syndrome SH2D1A-Related Lymphoproliferative Disease, X-Linked Select item 387801 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Cox deficiency, French Canadian type Cox deficiency, Saguenay Lac saint Jean type Cytochrome c oxidase deficiency, French Canadian type Leigh syndrome, French Canadian type Leigh syndrome, Saguenay Lac saint Jean type MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 Select item 5341 Glycogen storage disease, type V GSD 5 Glycogen storage disease type 5 McArdle disease McArdle type glycogen storage disease Muscle glycogen phosphorylase deficiency Myophosphorylase deficiency Select item 342121 Dystonia 5 DYT-GCH1 Dystonia 5, Dopa-responsive type Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Dystonia, Dopa-responsive, autosomal dominant Dystonia, progressive, with diurnal variation Dystonia-Parkinsonism with diurnal fluctuation GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Segawa syndrome, autosomal dominant Select item 67390 Pfeiffer syndrome ACS V Acrocephalosyndactyly, type 5 FGFR1-Related Craniosynostosis Pfeiffer type acrocephalosyndactyly Select item 356151 Malignant hyperthermia, susceptibility to, 5 CACNA1S-Related Malignant Hyperthermia Susceptibility Malignant hyperpyrexia susceptibility type 5 Malignant hyperthermia susceptibility type 5 Select item 341470 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY P5N DEFICIENCY PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Select item 1723540 Neuronopathy, distal hereditary motor, type 5A DHMN VA Distal Hereditary Motor Neuropathy Type V Distal Spinal Muscular Atrophy V NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5 Select item 861910 Epilepsy, idiopathic generalized, susceptibility to, 13 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 Epilepsy, juvenile myoclonic 5 Select item 98045 Autosomal recessive limb-girdle muscular dystrophy type 2C Adhalin deficiency, secondary Duchenne-like muscular dystrophy, autosomal recessive, type 1 Gamma-Sarcoglycanopathy Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy, type 2C MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 Maghrebian myopathy Muscular dystrophy, Duchenne-like Severe childhood autosomal recessive muscular dystrophy, North African type Select item 767220 Autosomal dominant nocturnal frontal lobe epilepsy 5 CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS Epilepsy, nocturnal frontal lobe, 5 Select item 763887 Neurodegeneration with brain iron accumulation 5 Beta-propeller protein-associated neurodegeneration STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD Select item 347542 3-methylglutaconic aciduria type 5 3 alpha methylglutaconic aciduria type V 3-methylglutaconic aciduria type V CARDIOMYOPATHY, DILATED, WITH ATAXIA MGA 5 MGA, TYPE V 
