Select item 338346 Charcot-Marie-Tooth disease dominant intermediate B CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B CMT DI1 Charcot-Marie-Tooth disease dominant intermediate 1 Charcot-Marie-Tooth disease dominant intermediate I Select item 82798 Junctional epidermolysis bullosa, non-Herlitz type Adult junctional epidermolysis bullosa COL17A1-Related Junctional Epidermolysis Bullosa EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1A, INTERMEDIATE Epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant Select item 450544 Beta thalassemia intermedia Select item 75701 Juvenile nephropathic cystinosis CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Intermediate Cystinosis Select item 1648474 Peroxisome biogenesis disorder 1A (Zellweger) Peroxisome biogenesis disorder 1a Zellweger leukodystrophy Select item 95975 Spinal muscular atrophy, type II Muscular atrophy, spinal, infantile chronic form Muscular atrophy, spinal, intermediate type SMA 2 SMA II Spinal muscular atrophy type 2 Select item 2611 beta Thalassemia Cooley's anemia Erythroblastic anemia Mediterranean anemia Select item 928336 Charcot-Marie-Tooth disease dominant intermediate E CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS Select item 334318 Charcot-Marie-Tooth disease dominant intermediate D CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D CMT DI3 Charcot-Marie-Tooth disease dominant intermediate 3 MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy Select item 79470 Peroxisome biogenesis disorder 1B Infantile Refsum disease Infantile form of phytanic acid storage disease Refsum disease, infantile form Select item 334023 Charcot-Marie-Tooth disease dominant intermediate C CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C Select item 330407 Peroxisome biogenesis disorder ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ALD: Adrenoleukodystrophy, X-Linked INFANTILE PHYTANIC ACID STORAGE DISEASE PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) Peroxisome biogenesis disorders, Zellweger syndrome spectrum Select item 334012 Charcot-Marie-Tooth disease recessive intermediate A CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A Select item 199598 UDPglucose-4-epimerase deficiency Epimerase Deficiency Galactosemia GALACTOSEMIA III Galactose epimerase deficiency Galactosemia 3 UDP-Galactose-4-epimerase deficiency UDPglucose 4-Epimerase Deficiency Disease Select item 462247 Charcot-Marie-Tooth disease recessive intermediate B CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy Select item 409754 Autosomal recessive osteopetrosis 6 Osteopetrosis autosomal recessive intermediate form PLEKHM1-Related Autosomal Recessive Osteopetrosis Select item 78650 Niemann-Pick disease, type A SPHINGOMYELIN LIPIDOSIS SPHINGOMYELINASE DEFICIENCY Select item 57852 Intervertebral disc disorder Intervertebral disc disease Lumbar disk degenerative disorder Select item 419735 Nephropathic cystinosis Abderhalden Lignac Kaufmann disease Abderhalden-Kaufmann-Lignac syndrome Cystinosin, defect of Lysosomal cystine transport protein, defect of Select item 9721 Lesch-Nyhan syndrome 
