DOID:12804
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mucopolysaccharidosis IV
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Aliases:
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Mucopolysaccharidosis, MPS-IV
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deficiency of N-acetylgalactosamine-6-sulphatase
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deficiency of chondroitinsulphatase
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galactosamine-6-sulfatase deficiency
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Homo sapiens (human)
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DOID:4543
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Homo sapiens (human)
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DOID:12801
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mucopolysaccharidosis III
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Aliases:
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Mucopolysaccharidosis, MPS-III
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N-sulphoglucosamine sulphohydrolase deficiency
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Sanfilippo's syndrome
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heparan sulfate sulfatase deficiency
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Homo sapiens (human)
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DOID:12798
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Homo sapiens (human)
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DOID:12800
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mucopolysaccharidosis VI
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Aliases:
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MPS VI - Maroteaux-Lamy syndrome
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Maroteaux - Lamy syndrome
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Maroteaux-Lamy syndrome
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arylsulfatase B deficiency
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deficiency of N-acetylgalactosamine-4-sulfatase
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Homo sapiens (human)
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DOID:12799
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mucopolysaccharidosis II
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Aliases:
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Hunter syndrome
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Hunter's syndrome
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MPS II - Hunter syndrome
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Mucopolysaccharidosis, MPS-II
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deficiency of iduronate-2-sulphatase
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Homo sapiens (human)
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DOID:8534
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gastroesophageal reflux disease
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Aliases:
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Acid reflux
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GERD
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GERD - Gastro-esophageal reflux disease
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Gastresophageal reflux
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Gastro-esophageal reflux
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Gastroesophageal reflux
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Homo sapiens (human)
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DOID:11963
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Homo sapiens (human)
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DOID:13976
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peptic esophagitis
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Aliases:
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Peptic reflux disease
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Reflux oesophagitis
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reflux esophagitis
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Homo sapiens (human)
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DOID:3429
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Homo sapiens (human)
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DOID:0060320
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Homo sapiens (human)
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DOID:0111078
|
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tibial muscular dystrophy
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Aliases:
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Finnish tibial muscular dystrophy
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TMD
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Tardive tibial muscular dystrophy
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Udd myopathy
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Udd type distal myopathy
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distal titinopathy
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Homo sapiens (human)
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DOID:0111390
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mucopolysaccharidosis Ih
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Aliases:
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Dysostosis multiplex syndrome
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Hurler disease MPS type 1H
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Hurler-Pfaundler syndrome
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L-iduronidase deficiency, Hurler type
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MPS1-H
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Mucopolysaccharidosis type I severe form
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dysostosis multiplex
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gargoylism
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Homo sapiens (human)
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DOID:12802
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mucopolysaccharidosis I
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Aliases:
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Hurler syndrome
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Hurler-Scheie syndrome
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Lipochondrodystrophy
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MPS I - Hurler syndrome
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Mucopolysaccharidosis, MPS-I
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Mucopolysaccharidosis, type 1
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iduronidase deficiency disease
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Homo sapiens (human)
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DOID:0060478
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Homo sapiens (human)
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DOID:0060731
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congenital central hypoventilation syndrome
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Aliases:
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CCHS
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Ondine curse
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Ondine syndrome
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central congenital hypoventilation syndrome
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congenital central alveolar hypoventilation syndrome
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Homo sapiens (human)
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DOID:0050847
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Homo sapiens (human)
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DOID:0080302
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mixed sleep apnea
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Aliases:
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Homo sapiens (human)
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DOID:0050881
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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Aliases:
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IBMPFD
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inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
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Homo sapiens (human)
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DOID:0111385
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
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Aliases:
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IBMPFD1
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MSP1
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multisystem proteinopathy 1
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|
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Homo sapiens (human)
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DOID:0050760
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X-linked myopathy with excessive autophagy
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Aliases:
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Homo sapiens (human)
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DOID:0080718
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GNE myopathy
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Aliases:
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Distal myopathy, Nonaka type
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Hereditary Inclusion Body Myopathy
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Nonaka myopathy
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inclusion body myopathy 2
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Homo sapiens (human)
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DOID:0070352
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stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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Aliases:
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Mus musculus (house mouse)
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DOID:9256
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Homo sapiens (human)
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|
DOID:5672
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Homo sapiens (human)
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