DOID:0110530
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autosomal recessive nonsyndromic deafness 84B
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Aliases:
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DFNB84B
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autosomal recessive deafness 84B
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Homo sapiens (human)
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DOID:0050981
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spinocerebellar ataxia type 34
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Homo sapiens (human)
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DOID:0090031
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D-bifunctional protein deficiency
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Homo sapiens (human)
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DOID:6603
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Kummell's disease
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Aliases:
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Kummell disease
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Kummell's spondylitis
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Traumatic spondylopathy
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Homo sapiens (human)
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DOID:0081120
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Graves ophthalmopathy
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Aliases:
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Graves orbitopathy
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Thyroid associated ophthalmopathy
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thyroid eye disease
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Homo sapiens (human)
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DOID:14070
|
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vestibular nystagmus
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Aliases:
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Nystagmus associated with disorder of the vestibular system
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|
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Homo sapiens (human)
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DOID:14448
|
-
46,XY sex reversal
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Aliases:
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46 XY gonadal dysgenesis
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Pure gonadal dysgenesis 46,XY
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Swyer syndrome
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|
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Homo sapiens (human)
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DOID:0110915
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childhood hypophosphatasia
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|
|
Homo sapiens (human)
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DOID:0110140
|
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Bardet-Biedl syndrome 18
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Aliases:
|
|
|
Homo sapiens (human)
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DOID:11836
|
-
clubfoot
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Aliases:
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Congenital equinovarus
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Equinovarus deformity of foot
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congenital clubfoot
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congenital talipes equinovarus
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|
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Homo sapiens (human)
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DOID:529
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|
|
|
Homo sapiens (human)
|
DOID:263
|
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kidney cancer
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Aliases:
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malignant neoplasm of kidney except pelvis
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malignant tumour of kidney
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renal cancer
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|
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Homo sapiens (human)
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DOID:0060363
|
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glycerol kinase deficiency
|
|
|
Homo sapiens (human)
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DOID:11119
|
-
Gilles de la Tourette syndrome
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Aliases:
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Guinon's disease
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Psychogenic tics
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Tourette syndrome
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motor-verbal tic disorder
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|
|
Homo sapiens (human)
|
DOID:9870
|
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galactosemia
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Aliases:
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Galactosaemia
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Galactose intolerance
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|
|
Homo sapiens (human)
|
DOID:10175
|
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optic papillitis
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Aliases:
|
|
|
Homo sapiens (human)
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DOID:2452
|
|
|
|
Homo sapiens (human)
|
DOID:0060815
|
-
Miles-Carpenter syndrome
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Aliases:
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MCS
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MRXS4
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X-linked intellectual disability, Miles-Carpenter type
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mental retardation, X-linked, syndromic 4
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mental retardation, X-linked, with congenital contractures and low fingertip arches
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|
|
Homo sapiens (human)
|
DOID:0060672
|
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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
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|
|
Homo sapiens (human)
|
DOID:0060196
|
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amyotrophic lateral sclerosis type 4
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Aliases:
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ALS 4
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amyotrophic lateral sclerosis 4
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amyotrophic lateral sclerosis 4, juvenile
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dHMN with upper motor neuron signs
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distal hereditary motor neuropathy with pyramidal features
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distal hereditary motor neuropathy with upper motor neuron signs
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|
|
Homo sapiens (human)
|
DOID:2748
|
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glycogen storage disease III
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Aliases:
-
Glycogen storage disease 3
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Glycogen storage disease, type III
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amylo 1,6 glucosidase deficiency
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deficiency of debranching enzyme
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deficiency of dextrin
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|
|
Homo sapiens (human)
|
DOID:7187
|
-
subacute lymphocytic thyroiditis
|
|
|
Homo sapiens (human)
|
DOID:0112380
|
-
muscular dystrophy-dystroglycanopathy type B2
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Aliases:
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MDDGB2
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congenital muscular dystrophy POMT2-related
|
|
|
Homo sapiens (human)
|
DOID:13413
|
-
hepatic encephalopathy
-
Aliases:
-
Portal-systemic encephalopathy
|
|
|
Homo sapiens (human)
|
DOID:11758
|
|
|
|
Homo sapiens (human)
|