DOID:0111393
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mucopolysaccharidosis type IIIC
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Aliases:
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Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
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HGSNAT deficiency
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Heparan-alpha-glucosaminide N-acetyltransferase deficiency
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MPS3C
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MPSIIIC
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Mucopolysaccharidosis type 3C
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Sanfilippo syndrome type C
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mucopolysaccharidosis type IIIC (Sanfilippo C)
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Homo sapiens (human)
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DOID:288
|
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endometriosis of uterus
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Aliases:
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Endometriosis interna
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Endometriosis of myometrium
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Endometriosis, myometrium
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adenomyosis
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uterine Adenomyosis
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Homo sapiens (human)
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DOID:10941
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intracranial aneurysm
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Aliases:
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|
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Homo sapiens (human)
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DOID:0050741
|
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alcohol dependence
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Aliases:
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|
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Homo sapiens (human)
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DOID:13739
|
-
nutmeg liver
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Aliases:
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chronic passive congestion of liver
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|
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Homo sapiens (human)
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DOID:10352
|
-
breast fibroadenosis
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Aliases:
-
Fibroadenosis - breast
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Fibroadenosis of breast
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|
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Homo sapiens (human)
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DOID:0080562
|
-
congenital disorder of glycosylation Ij
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Aliases:
-
Congenital disorder of glycosylation 1j
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|
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Homo sapiens (human)
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DOID:0040084
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|
|
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Homo sapiens (human)
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DOID:0110476
|
-
autosomal recessive nonsyndromic deafness 1B
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Aliases:
-
DFNB1B
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autosomal recessive deafness 1B
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|
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Homo sapiens (human)
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DOID:0110550
|
-
autosomal dominant nonsyndromic deafness 20
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Aliases:
-
DFNA20
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DFNA26
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autosomal dominant deafness 20
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|
|
Homo sapiens (human)
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DOID:90
|
-
degenerative disc disease
-
Aliases:
-
cervical disc degenerative disease
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intervertebral disc degeneration
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lumbar disc degeneration
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vertebral disc disease
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|
|
Homo sapiens (human)
|
DOID:0110289
|
-
autosomal recessive limb-girdle muscular dystrophy type 2Y
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Aliases:
-
LGMD2Y
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autosomal recessive muscular dystrophy due to LAP1B deficiency
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autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
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muscular dystrophy with progressive weakness, distal contractures and rigid spine
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muscular dystrophy, limb-girdle, type 2Y
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|
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Homo sapiens (human)
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DOID:450
|
|
|
|
Homo sapiens (human)
|
DOID:5212
|
-
congenital disorder of glycosylation
-
Aliases:
-
carbohydrate-deficient glycoprotein syndrome
|
|
|
Homo sapiens (human)
|
DOID:0060181
|
|
|
|
Homo sapiens (human)
|
DOID:397
|
-
restrictive cardiomyopathy
-
Aliases:
-
Cardiomyopathy, constrictive
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primary restrictive cardiomyopathy
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|
|
Homo sapiens (human)
|
DOID:0110772
|
-
hereditary spastic paraplegia 19
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Aliases:
-
SPG19
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autosomal dominant spastic paraplegia 19
-
autosomal dominant spastic paraplegia type 19
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|
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Homo sapiens (human)
|
DOID:0060417
|
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3p deletion syndrome
-
Aliases:
-
chromosome 3pter-P25 deletion syndrome
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distal monosomy 3p
|
|
|
Homo sapiens (human)
|
DOID:0060832
|
-
Griscelli syndrome type 1
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Aliases:
-
GS1
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Griscelli syndrome with neurological impairment
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Griscelli syndrome, cutaneous and neurological type
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Griscelli-Prunieras syndrome type 1
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hypopigmentation-neurologic impairment syndrome
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|
|
Homo sapiens (human)
|
DOID:0060705
|
-
X-linked lymphoproliferative syndrome 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:7166
|
|
|
|
Homo sapiens (human)
|
DOID:0050214
|
-
Lambert-Eaton myasthenic syndrome
-
Aliases:
-
Eaton-Lambert syndrome
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LEMS
-
Lambert-Eaton syndrome
|
|
|
Homo sapiens (human)
|
DOID:0080362
|
-
X-linked spondyloepiphyseal dysplasia tarda
|
|
|
Homo sapiens (human)
|
DOID:4929
|
-
tubular adenocarcinoma
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0060783
|
-
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
-
Aliases:
|
|
|
Homo sapiens (human)
|