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Acral Mutilation Syndrome
Aliases: Pain Insensitivity, Sensory Neuropathy, AMS, SN
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Chondrodystrophy (CDDY and IVDD Risk) with or without Chondrodysplasia (CDPA)
Aliases: CDDY with IVDD, CDPA, Hansen's Type I IVDD, Intervertebral Disc Disease
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Ehlers-Danlos Syndrome (Variants 1 and 2)
Aliases: EDS
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GM2 Gangliosidosis (Poodle Type)
Aliases: Sandhoff disease, Type 0 gangliosidosis
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Glycogen Storage Disease VII, PFK Deficiency
Aliases: Phosphofructokinase deficiency, GSD VII, PFK deficiency
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Hereditary Cataracts
Aliases: Early onset cataracts, Juvenile cataracts, HC, JC
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Multidrug Resistance 1
Aliases: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1
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Neonatal Encephalopathy with Seizures
Aliases: NEWS
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