DOID:0110660
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congenital myasthenic syndrome 12
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Aliases:
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CMS12
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congenital myasthenia 12 with tubular aggregates
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Homo sapiens (human)
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DOID:0110668
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congenital myasthenic syndrome 10
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Aliases:
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CMS10
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LGM
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congenital muscular dystrophy merosin-positive
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familial limb-girdle myasthenia
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Homo sapiens (human)
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DOID:0111232
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congenital muscular dystrophy-dystroglycanopathy type A9
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Aliases:
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MDDGA9
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Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
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Homo sapiens (human)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Homo sapiens (human)
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DOID:0111242
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congenital muscular dystrophy-dystroglycanopathy type A6
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Aliases:
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MDDGA6
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Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
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Homo sapiens (human)
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DOID:0111241
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congenital muscular dystrophy-dystroglycanopathy type A5
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Aliases:
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MDDGA5
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Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
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Homo sapiens (human)
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DOID:0111236
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congenital muscular dystrophy-dystroglycanopathy type A3
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Aliases:
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MDDGA3
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Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
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Homo sapiens (human)
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DOID:0111240
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congenital muscular dystrophy-dystroglycanopathy type A2
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Aliases:
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MDDGA2
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
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Homo sapiens (human)
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DOID:0111238
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congenital muscular dystrophy-dystroglycanopathy type A13
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Aliases:
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MDDGA13
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Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
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Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
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Homo sapiens (human)
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DOID:0111235
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congenital muscular dystrophy-dystroglycanopathy type A12
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Aliases:
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MDDGA12
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Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
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Homo sapiens (human)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Homo sapiens (human)
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DOID:0111239
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congenital muscular dystrophy-dystroglycanopathy type A10
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Aliases:
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MDDGA10
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Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
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Homo sapiens (human)
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DOID:0111237
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congenital muscular dystrophy-dystroglycanopathy type A1
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Aliases:
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MDDGA1
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
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Homo sapiens (human)
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DOID:0111234
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congenital muscular dystrophy-dystroglycanopathy A7
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Aliases:
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MDDGA7
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Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
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Homo sapiens (human)
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DOID:0111233
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congenital muscular dystrophy-dystroglycanopathy A14
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Aliases:
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MDDGA14
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Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
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Homo sapiens (human)
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DOID:0050557
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congenital muscular dystrophy
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Homo sapiens (human)
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DOID:0080197
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congenital muscular dystrophy with cataracts and intellectual disability
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Homo sapiens (human)
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DOID:0110639
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congenital muscular dystrophy due to integrin alpha-7 deficiency
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Aliases:
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congenital muscular dystrophy with ITGA7 deficiency
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congenital muscular dystrophy with integrin alpha-7 deficiency
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congenital myopathy due to integrin alpha-7 deficiency
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Homo sapiens (human)
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DOID:0110640
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congenital muscular dystrophy due to LMNA mutation
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Aliases:
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L-CMD
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LMNA-related congenital muscular dystrophy
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congenital muscular dystrophy LMNA-related
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Homo sapiens (human)
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DOID:0110634
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congenital muscular dystrophy 1B
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Aliases:
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CMD1B
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MDC1B
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congenital muscular dystrophy type 1B
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Homo sapiens (human)
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DOID:4773
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congenital mesoblastic nephroma
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Homo sapiens (human)
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DOID:0110636
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congenital merosin-deficient muscular dystrophy 1A
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Aliases:
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CMD1A
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MDC1A
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Merosin-negative congenital muscular dystrophy
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congenital muscular dystrophy due to laminin alpha2 deficiency
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Homo sapiens (human)
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DOID:0060779
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congenital malabsorptive diarrhea 4
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Aliases:
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congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
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congenital malabsorptive diarrhoea 4
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congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
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enteric anendocrinosis
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Homo sapiens (human)
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DOID:0111334
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congenital leptin deficiency
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Aliases:
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LEPD
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leptin deficiency or dysfunction
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obesity due to congenital leptin deficiency
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Homo sapiens (human)
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DOID:0111646
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congenital lactase deficiency
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Aliases:
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CLD
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congenital alactasia
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congenital alactasia syndrome
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congenital lactose intolerance
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congenital lactose malabsorption
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disaccharide intolerance II
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Homo sapiens (human)
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