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 Select item 444089 Chromosome 5, trisomy 5pter p13 3 Duplication 5pter p13.3 Trisomy 5pter p13 3 Select item 67390 Pfeiffer syndrome ACS V Acrocephalosyndactyly, type 5 FGFR1-Related Craniosynostosis Pfeiffer type acrocephalosyndactyly 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 436375 Hereditary spherocytosis type 4 Hemolytic Anemia due to Band 3 Montefiore SLC4A1-Related Hereditary Spherocytosis SLC4A1-Related Spherocytosis Spherocytosis type 4 Select item 355842 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Combined oxidative phosphorylation deficiency 3 ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS Select item 335399 Bartter disease type 3 Bartter syndrome classic Bartter syndrome type 3 Select item 373344 Microcephaly 5, primary, autosomal recessive Select item 409627 Autosomal recessive osteopetrosis 5 OSTM1-Related Autosomal Recessive Osteopetrosis Osteopetrosis infantile malignant 3 Select item 101816 Kugelberg-Welander disease Juvenile Spinal Muscular Atrophy Kugelberg-Welander syndrome Muscular atrophy, juvenile SMA 3 SMA III SPINAL MUSCULAR ATROPHY, TYPE III Spinal muscular atrophy type 3 Spinal muscular atrophy, mild childhood and adolescent form Select item 393654 Epilepsy, childhood absence, susceptibility to, 5 Epilepsy, childhood absence 5 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 355121 Cerebral cavernous malformation 3 Cerebral cavernous malformations 3 Familial Cerebral Cavernous Malformation 3 Select item 761665 Autosomal recessive congenital ichthyosis 3 Select item 394798 Hereditary spherocytosis type 3 SPTA1-Related Hereditary Spherocytosis SPTA1-Related Spherocytosis Spherocytosis type 3 Select item 350678 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome ARTHROGRYPOSIS, DISTAL, TYPE 5 ARTHROGRYPOSIS, DISTAL, TYPE IIB Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis Arthrogryposis with oculomotor limitation and electroretinal abnormalities Oculomelic amyoplasia Select item 356388 Amyotrophic lateral sclerosis type 5 AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE Select item 347628 Autosomal recessive congenital ichthyosis 5 Ichthyosis congenita III Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive Lamellar ichthyosis, type 3 Select item 481743 LAMB2-related infantile-onset nephrotic syndrome NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES Nephrotic syndrome, type 5, with or without ocular abnormalities Select item 66314 Gordon syndrome ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA Arthrogryposis distal type 3 Arthrogryposis multiplex congenita distal type 2a Camptodactyly, cleft palate, and clubfoot Gordon's syndrome 
