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:4154
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dentinogenesis imperfecta
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Homo sapiens (human)
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DOID:0050495
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exanthema subitum
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Aliases:
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Roseola Infantum
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Sixth Disease
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Homo sapiens (human)
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DOID:7439
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polyp of middle ear
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Aliases:
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polyp - middle ear
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polyp of the middle ear
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Homo sapiens (human)
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DOID:11719
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oculopharyngeal muscular dystrophy
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Aliases:
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Muscular dystrophy, oculopharyngeal
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Homo sapiens (human)
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DOID:2842
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Jervell-Lange Nielsen syndrome
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Aliases:
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Jervell and Lange-Nielson syndrome
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|
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Homo sapiens (human)
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DOID:0110750
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type 1 diabetes mellitus 11
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Aliases:
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IDDM11
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Insulin-Dependent Diabetes Mellitus 11
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Homo sapiens (human)
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DOID:11823
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|
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Homo sapiens (human)
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DOID:1062
|
-
Fanconi syndrome
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Aliases:
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Congenital Fanconi syndrome
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De Toni-Fanconi syndrome
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Fanconi-de Toni syndrome
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Fanconi-de-Toni syndrome
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Infantile nephropathic cystinosis
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Lignac-Fanconi syndrome
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adult Fanconi Anemia
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adult Fanconi syndrome
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deToni Fanconi syndrome
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|
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Homo sapiens (human)
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|
DOID:2733
|
-
skin atrophy
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Aliases:
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Atrophoderma
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Atrophy - skin
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atrophic condition of skin
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|
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Homo sapiens (human)
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|
DOID:2742
|
-
auditory system disease
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Aliases:
|
|
|
Homo sapiens (human)
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|
DOID:0110527
|
-
autosomal recessive nonsyndromic deafness 8
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Aliases:
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DFNB10
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DFNB8
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NRSD8
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autosomal recessive deafness 10
-
autosomal recessive deafness 8
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childhood-onset neurosensory autosomal recessive deafness 8
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neurosensory nonsyndromic recessive deafness 8
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|
|
Homo sapiens (human)
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|
DOID:0060536
|
-
mitochondrial complex I deficiency
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Aliases:
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isolated NADH-CoQ reductase deficiency
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isolated NADH-coenzyme Q reductase deficiency
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isolated NADH-ubiquinone reductase deficiency
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isolated mitochondrial respiratory chain complex I deficiency
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|
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Homo sapiens (human)
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|
DOID:1283
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|
|
|
Homo sapiens (human)
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DOID:0060023
|
-
immunodeficiency with hyper IgM type 3
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Aliases:
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CD40 deficiency
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HIGM3
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hyper-IgM syndrome due to CD40 deficiency
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type 3 hyper-IgM immunodeficiency
|
|
|
Homo sapiens (human)
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|
DOID:0070384
|
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developmental and epileptic encephalopathy 98
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Aliases:
-
DEE98
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early infantile epileptic encephalopathy 98
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|
|
Homo sapiens (human)
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|
DOID:11406
|
|
|
|
Homo sapiens (human)
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|
DOID:9246
|
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cerebral amyloid angiopathy
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Aliases:
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Cerebral Hemorrhage, Hereditary, with Amyloidosis
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Hereditary Cerebral Hemorrhage with Amyloidosis
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|
|
Homo sapiens (human)
|
|
DOID:0050866
|
-
oral squamous cell carcinoma
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Aliases:
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mouth squamous cell carcinoma
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|
|
Homo sapiens (human)
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|
DOID:3304
|
|
|
|
Homo sapiens (human)
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|
DOID:8872
|
-
penis carcinoma in situ
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Aliases:
-
Bowen's disease of penis
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Penile intraepithelial neoplasia grade III
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Queyrat's erythroplasia
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carcinoma in situ of penis
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grade III squamous Intraepithelial Lesion of penis
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|
|
Homo sapiens (human)
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|
DOID:8596
|
|
|
|
Homo sapiens (human)
|
|
DOID:0090075
|
-
hypogonadotropic hypogonadism 15 with or without anosmia
|
|
|
Homo sapiens (human)
|
|
DOID:9820
|
-
central gyrate choroidal dystrophy
-
Aliases:
-
Choroidal dystrophy, serpiginous
|
|
|
Homo sapiens (human)
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|
DOID:539
|
-
ophthalmoplegia
-
Aliases:
-
Total ophthalmoplegia
-
extraocular muscle paralysis
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eye movement paralysis
-
oculomotor paralysis
|
|
|
Homo sapiens (human)
|
|