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Hyperekplexia (Startle Disease)
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Hyperoxaluria
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Hyperuricosuria
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Hypoadrenocorticism
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Hypocatalasia
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Hypokalemic Polymyopathy
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Hypomyelination and Tremors
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Ichthyosis
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Inflammatory Myopathy
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Inherited Myopathy
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Iron‐Deficiency Anemia
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Juvenile Encephalopathy
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Juvenile Epilepsy
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Juvenile Laryngeal Paralysis and Polyneuropathy
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Juvenile Myoclonic Epilepsy
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Juvenile Onset Polyneuropathy
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L2‐ Hydroxyglutaric Aciduria
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Lagotto Storage Disease
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Laryngeal Paralysis
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Lethal Acrodermatitis MKLN1
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Leukoencephalomyelopathy
|
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Ligneous Membranitis
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|
Lipoprotein Lipase Deficiency
|
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Long QT Syndrome
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|
Lundehund Syndrome
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Lupoid Dermatosis
|
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Macrothrombocytopenia
|
|
Macular Corneal Dystrophy
|
|
Malignant Hyperthermia
|
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Mannosidosis
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May–Hegglin Anomaly
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Microphthalmia, Anophthalmia, and Coloboma
|
|
Mucolipidosis II
|
|
Mucopolysaccharidosis (I, IIIa, VI, VII, VIII)
|
|
Mullerian Duct Syndrome
|
|
Multidrug Resistance 1
|
|
Multiple System Degeneration
|
|
Muscular Dystrophy
|
|
Musladin–Lueke Syndrome
|
|
Mycobacterium Avium Susceptibility
|
|
Myeloperoxidase deficiency
|
|
Myostatin Deficiency
|
|
Myotonia Congenita
|
|
Myotonia Hereditaria
|
|
Myotubular Myopathy
|
|
Narcolepsy
|
|
Necrotizing Meningoencephalitis
|
|
Nemaline Myopathy
|
|
Neonatal Ataxia
|
|
Neonatal Cerebellar Cortical Degeneration
|
|
Neonatal Encephalopathy
|
|
Neonatal Encephalopathy with Seizures
|
|
Neonatal Neuroaxonal Dystrophy
|
|
Neuroaxonal Dystrophy
|
|
Neurodegenerative Vacuolar Storage Disease
|
|
Neuronal Ceroid Lipofuscinosis 1, 2, 4a, 5, 6, 7, 8, 10, A, MFSD8
|
|
Niemann‐Pick C
|
|
Oculoskeletal Dysplasia
|
|
Osteochondrodysplasia
|
|
Osteochondromatosis
|
|
Osteogenesis Imperfecta
|
|
P2Y12 Receptor Platelet Disorder
|
|
Palmoplantar Keratoderma
|
|
Pancreatitis (marker)
|
|
Pannus (marker)
|
|
Paroxysmal Dyskinesia
|
|
Periodic Fever Syndrome
|
|
Persistent Mullerian Duct Syndrome
|
|
Phosphofructokinase Deficiency
|
|
Pituitary Dwarfism
|
|
Platelet Dysfunction
|
|
Platelet Procoagulant Deficiency – Scott Syndrome
|
|
Polycystic Kidney Disease
|
|
Polyneuropathy
|
|
Pompe Disease
|
|
Porphyria
|
|
Postoperative Hemorrhage
|
|
Prekallikrein Deficiency
|
|
Primary Ciliary Dyskinesia
|
|
Primary Lens Luxation
|
|
Primary Open Angle Glaucoma
|
|
Progress Retinal Atrophy ‐ crd4/cord1
|
|
Progressive Neuronal Abiotrophy
|
|
Progressive Retinal Atrophy ‐ AD/RHO
|
|
Progressive Retinal Atrophy ‐ CNGA
|
|
Progressive Retinal Atrophy ‐ CNGB1
|
|
Progressive Retinal Atrophy ‐ crd (1, 2, 3, 4)
|
|
Progressive Retinal Atrophy ‐ erd
|
|
Progressive Retinal Atrophy ‐ Golden Retriever (1 & 2)
|
|
Progressive Retinal Atrophy ‐ IG‐PRA1
|
|
Progressive Retinal Atrophy ‐ Late Onset
|
|
Progressive Retinal Atrophy ‐ rcd (1, 1a, 2, 3, 4)
|
|
Progressive Retinal Atrophy ‐ RdAc
|
|
Progressive Retinal Atrophy ‐ Rdy
|
|
Progressive Retinal Atrophy ‐ SAG
|
|
Progressive Retinal Atrophy ‐ Type 1, 3, 4
|
|
Progressive Retinal Atrophy ‐ Type A, B
|
|
Progressive Retinal Atrophy ‐ Type III
|
|
Progressive Retinal Atrophy ‐ X‐linked
|
|
Progressive Rod Cone Degeneration (prcd)
|
|
Protein‐Losing Nephropathy
|
