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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Rattus norvegicus (Norway rat)
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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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Mus musculus (house mouse)
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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:0060732
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chromosome 9p deletion syndrome
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Aliases:
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9p syndrome
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Alfi syndrome
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monosomy 9p syndrome
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Homo sapiens (human)
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DOID:0060732
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chromosome 9p deletion syndrome
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Aliases:
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9p syndrome
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Alfi syndrome
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monosomy 9p syndrome
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Mus musculus (house mouse)
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DOID:0060733
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junctional epidermolysis bullosa with pyloric atresia
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Aliases:
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Carmi syndrome
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JEB-PA
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epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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Caenorhabditis elegans
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DOID:0060733
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junctional epidermolysis bullosa with pyloric atresia
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Aliases:
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Carmi syndrome
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JEB-PA
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epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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Homo sapiens (human)
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DOID:0060733
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junctional epidermolysis bullosa with pyloric atresia
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Aliases:
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Carmi syndrome
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JEB-PA
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epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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Drosophila melanogaster (fruit fly)
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DOID:0060733
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junctional epidermolysis bullosa with pyloric atresia
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Aliases:
-
Carmi syndrome
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JEB-PA
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epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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Rattus norvegicus (Norway rat)
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DOID:0060733
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junctional epidermolysis bullosa with pyloric atresia
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Aliases:
-
Carmi syndrome
-
JEB-PA
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epidermolysis bullosa junctionalis with pyloric atresia
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junctional epidermolysis bullosa-pyloric atresia syndrome
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Mus musculus (house mouse)
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DOID:0060735
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epidermolysis bullosa simplex Dowling-Meara type
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Aliases:
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EBS-gen sev
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EBSDM
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epidermolysis bullosa herpetiformis Dowling-Meara type
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epidermolysis bullosa simplex, herpetiformis
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generalized severe epidermolysis bullosa simplex
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Rattus norvegicus (Norway rat)
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DOID:0060735
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epidermolysis bullosa simplex Dowling-Meara type
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Aliases:
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EBS-gen sev
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EBSDM
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epidermolysis bullosa herpetiformis Dowling-Meara type
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epidermolysis bullosa simplex, herpetiformis
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generalized severe epidermolysis bullosa simplex
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Homo sapiens (human)
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DOID:0060735
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epidermolysis bullosa simplex Dowling-Meara type
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Aliases:
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EBS-gen sev
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EBSDM
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epidermolysis bullosa herpetiformis Dowling-Meara type
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epidermolysis bullosa simplex, herpetiformis
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generalized severe epidermolysis bullosa simplex
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Mus musculus (house mouse)
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DOID:0060736
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epidermolysis bullosa simplex Ogna type
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Aliases:
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Homo sapiens (human)
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DOID:0060736
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epidermolysis bullosa simplex Ogna type
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Aliases:
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Mus musculus (house mouse)
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DOID:0060737
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junctional epidermolysis bullosa Herlitz type
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Aliases:
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Herlitz type epidermolysis bullosa junctionalis
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Herlitz-Pearson-type epidermolysis bullosa
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JEB-H
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JEB-Herlitz type
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epidermolysis bullosa letalis
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junctional epidermolysis bullosa generalisata gravis
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junctional epidermolysis bullosa, Herlitz-Pearson type
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Drosophila melanogaster (fruit fly)
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DOID:0060737
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junctional epidermolysis bullosa Herlitz type
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Aliases:
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Herlitz type epidermolysis bullosa junctionalis
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Herlitz-Pearson-type epidermolysis bullosa
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JEB-H
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JEB-Herlitz type
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epidermolysis bullosa letalis
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junctional epidermolysis bullosa generalisata gravis
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junctional epidermolysis bullosa, Herlitz-Pearson type
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Homo sapiens (human)
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DOID:0060737
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junctional epidermolysis bullosa Herlitz type
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Aliases:
-
Herlitz type epidermolysis bullosa junctionalis
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Herlitz-Pearson-type epidermolysis bullosa
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JEB-H
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JEB-Herlitz type
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epidermolysis bullosa letalis
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junctional epidermolysis bullosa generalisata gravis
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junctional epidermolysis bullosa, Herlitz-Pearson type
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Mus musculus (house mouse)
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DOID:0060737
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junctional epidermolysis bullosa Herlitz type
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Aliases:
-
Herlitz type epidermolysis bullosa junctionalis
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Herlitz-Pearson-type epidermolysis bullosa
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JEB-H
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JEB-Herlitz type
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epidermolysis bullosa letalis
-
junctional epidermolysis bullosa generalisata gravis
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junctional epidermolysis bullosa, Herlitz-Pearson type
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Caenorhabditis elegans
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DOID:0060738
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junctional epidermolysis bullosa non-Herlitz type
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Aliases:
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GABEB
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JEB-nH gen
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JEN-nH
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generalized atrophic benign epidermolysis bullosa
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generalized junctional epidermolysis bullosa, non-Herlitz type
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junctional epidermolysis bullosa generalisata mitis
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junctional epidermolysis bullosa, Disentis type
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Drosophila melanogaster (fruit fly)
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DOID:0060738
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junctional epidermolysis bullosa non-Herlitz type
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Aliases:
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GABEB
-
JEB-nH gen
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JEN-nH
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generalized atrophic benign epidermolysis bullosa
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generalized junctional epidermolysis bullosa, non-Herlitz type
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junctional epidermolysis bullosa generalisata mitis
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junctional epidermolysis bullosa, Disentis type
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Caenorhabditis elegans
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DOID:0060738
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junctional epidermolysis bullosa non-Herlitz type
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Aliases:
-
GABEB
-
JEB-nH gen
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JEN-nH
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generalized atrophic benign epidermolysis bullosa
-
generalized junctional epidermolysis bullosa, non-Herlitz type
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junctional epidermolysis bullosa generalisata mitis
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junctional epidermolysis bullosa, Disentis type
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Rattus norvegicus (Norway rat)
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DOID:0060738
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junctional epidermolysis bullosa non-Herlitz type
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Aliases:
-
GABEB
-
JEB-nH gen
-
JEN-nH
-
generalized atrophic benign epidermolysis bullosa
-
generalized junctional epidermolysis bullosa, non-Herlitz type
-
junctional epidermolysis bullosa generalisata mitis
-
junctional epidermolysis bullosa, Disentis type
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Mus musculus (house mouse)
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DOID:0060738
|
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junctional epidermolysis bullosa non-Herlitz type
-
Aliases:
-
GABEB
-
JEB-nH gen
-
JEN-nH
-
generalized atrophic benign epidermolysis bullosa
-
generalized junctional epidermolysis bullosa, non-Herlitz type
-
junctional epidermolysis bullosa generalisata mitis
-
junctional epidermolysis bullosa, Disentis type
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Homo sapiens (human)
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DOID:0060740
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methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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Aliases:
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methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
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methylmalonic aciduria mut type
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vitamin B12-unresponsive methylmalonic aciduria
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Homo sapiens (human)
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