DOID:0110916
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hereditary spherocytosis type 1
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Aliases:
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HS1
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SPH1
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hereditary spherocytosis 1
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Homo sapiens (human)
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DOID:0080147
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Homo sapiens (human)
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DOID:0090001
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Fraser syndrome
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Aliases:
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cryptophthalmos with other malformations
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Homo sapiens (human)
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DOID:0050508
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Homo sapiens (human)
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DOID:0060174
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GABA aminotransferase deficiency
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Aliases:
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Gamma-amino butyric acid transaminase deficiency
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gamma-aminobutyric acid transaminase deficiency
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Homo sapiens (human)
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DOID:9650
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Homo sapiens (human)
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DOID:12716
|
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newborn respiratory distress syndrome
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Aliases:
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HMD - Hyaline membrane disease
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Neonatal respiratory Distress syndrome
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hyaline membrane disease
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pulmonary hyaline membrane disease
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pulmonary hypoperfusion syndrome of newborn
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respiratory distress syndrome of newborn
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Homo sapiens (human)
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|
DOID:0110280
|
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autosomal recessive limb-girdle muscular dystrophy type 2F
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Aliases:
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LGMD2F
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delta-sarcoglycanopathy
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limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
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|
|
Homo sapiens (human)
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|
DOID:0110113
|
-
atrial heart septal defect 8
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Aliases:
-
ASD8
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atrial septal defect 8
|
|
|
Homo sapiens (human)
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|
DOID:1700
|
-
X-linked ichthyosis
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Aliases:
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X-linked ichthyosis with steryl-sulphatase deficiency
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X-linked placental steryl-sulphatase deficiency
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X-linked recessive ichthyosis
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|
|
Homo sapiens (human)
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|
DOID:0111254
|
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glutaric acidemia I
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Aliases:
-
GA1
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glutaric academia type 1
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glutaric aciduria 1
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glutaric aciduria type I
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glutaryl-coA dehydrogenase deficiency
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glutaryl-coenzyme A dehydrogenase deficiency
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|
|
Homo sapiens (human)
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|
DOID:10486
|
|
|
|
Homo sapiens (human)
|
|
DOID:13912
|
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acquired color blindness
-
Aliases:
-
acquired color vision deficiencies
-
acquired color vision deficiency
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acquired colour blindness
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acquired colour vision deficiencies
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acquired colour vision deficiency
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|
|
Homo sapiens (human)
|
|
DOID:0110756
|
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type 1 diabetes mellitus 19
-
Aliases:
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IDDM19
-
Insulin-Dependent Diabetes Mellitus 19
|
|
|
Homo sapiens (human)
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|
DOID:8781
|
|
|
|
Homo sapiens (human)
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|
DOID:4252
|
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Alexander disease
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Aliases:
|
|
|
Homo sapiens (human)
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|
DOID:0060281
|
-
photosensitive epilepsy
-
Aliases:
-
photogenic epilepsy
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photoparoxysmal response
|
|
|
Homo sapiens (human)
|
|
DOID:8771
|
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contagious pustular dermatitis
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Aliases:
-
Ecthyma contagiosum
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Ecthyma, Contagious
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Orf
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scabby mouth
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sheep pox
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thistle disease
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|
|
Homo sapiens (human)
|
|
DOID:0080195
|
-
Marinesco-Sjogren syndrome
-
Aliases:
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Garland-Moorhouse syndrome
-
Marinesco-Garland syndrome
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Oligophrenic cerebellolenticular degeneration
-
hereditary oligophrenic cerebello-lental degeneration
|
|
|
Homo sapiens (human)
|
|
DOID:3413
|
-
alpha-mannosidosis
-
Aliases:
-
Alpha-D-mannosidosis
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alpha-mannosidase deficiency
-
deficiency of alpha-mannosidase
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|
|
Homo sapiens (human)
|
|
DOID:74
|
-
hematopoietic system disease
-
Aliases:
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Blood disease
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Blood dyscrasia
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DISEASE OF THE BLOOD AND BLOOD-FORMING ORGANS
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Hematological disease
-
blood disorder
-
disease of haematopoietic system
-
disease of hematopoietic system
-
haematopoietic system disease
|
|
|
Homo sapiens (human)
|
|
DOID:720
|
-
normocytic anemia
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0050888
|
-
syndromic intellectual disability
|
|
|
Homo sapiens (human)
|
|
DOID:599
|
|
|
|
Homo sapiens (human)
|
|
DOID:0110425
|
-
dilated cardiomyopathy 1A
-
Aliases:
-
CDCD1
-
dilated cardiomyopathy with conduction defect 1
-
familial dilated cardiomyopathy with conduction defect due to LMNA mutation
|
|
|
Homo sapiens (human)
|
|