DOID:0060679
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catecholaminergic polymorphic ventricular tachycardia 5
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Aliases:
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|
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Homo sapiens (human)
|
DOID:3857
|
-
large cell medulloblastoma
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Aliases:
-
Anaplastic medulloblastoma
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|
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Homo sapiens (human)
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DOID:0111087
|
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Fanconi anemia complementation group C
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Aliases:
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FA3
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FACC
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FANCC
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Fanconi pancytopenia type 3
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|
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Homo sapiens (human)
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DOID:0050681
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Borjeson-Forssman-Lehmann syndrome
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Aliases:
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BFLS
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BORJ
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Borjeson syndrome
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MRXSBFL
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intellectual deficiency-epilepsy-endocrine disorders syndrome
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mental retardation, epilepsy, and endocrine disorder
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syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
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|
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Homo sapiens (human)
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DOID:1245
|
-
vulva cancer
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Aliases:
-
Ca vulva
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Vulvar tumor
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malignant Vulvar tumor
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malignant neoplasm of vulva
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malignant tumor of vulva
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neoplasm of vulva
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vulval cancer
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vulval neoplasm
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vulvar neoplasm
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|
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Homo sapiens (human)
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DOID:10211
|
|
|
|
Homo sapiens (human)
|
DOID:2862
|
-
glucosephosphate dehydrogenase deficiency
-
Aliases:
-
Glucose-6-phosphate dehydrogenase deficiency
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deficiency of G-6PD
|
|
|
Homo sapiens (human)
|
DOID:297
|
-
pleomorphic adenoma carcinoma
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Aliases:
-
carcinoma ex pleomorphic adenoma
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carcinoma in pleomorphic adenoma
|
|
|
Homo sapiens (human)
|
DOID:5485
|
|
|
|
Homo sapiens (human)
|
DOID:0112379
|
-
muscular dystrophy-dystroglycanopathy type B4
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Aliases:
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MDDGB4
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congenital muscular dystrophy FKTN-related
|
|
|
Homo sapiens (human)
|
DOID:0060451
|
-
Meesmann corneal dystrophy
-
Aliases:
-
MECD
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Stocker-Holt dystrophy
-
juvenile hereditary epithelial dystrophy
|
|
|
Homo sapiens (human)
|
DOID:0110237
|
|
|
|
Homo sapiens (human)
|
DOID:10611
|
-
protein-losing enteropathy
-
Aliases:
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Enteropathy, exudative
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Exudative enteropathy
|
|
|
Homo sapiens (human)
|
DOID:0110852
|
-
rhizomelic chondrodysplasia punctata type 2
-
Aliases:
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Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
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Dhapat Deficiency
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Dihydroxyacetonephosphate Acyltransferase Deficiency
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Glyceronephosphate O-Acyltransferase Deficiency
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Gnpat Deficiency
-
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
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Rcdp2
|
|
|
Homo sapiens (human)
|
DOID:9854
|
-
lingual-facial-buccal dyskinesia
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:7998
|
|
|
|
Homo sapiens (human)
|
DOID:12148
|
-
alveolar echinococcosis
-
Aliases:
-
Multilocular hydatid
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alveolococcosis
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small fox tapeworm
|
|
|
Homo sapiens (human)
|
DOID:0110030
|
-
alpha thalassemia-X-linked intellectual disability syndrome
-
Aliases:
-
ATR, nondeletion type
-
ATR-X syndrome
-
alpha-thalassemia/mental retardation syndrome nondeletion type
|
|
|
Homo sapiens (human)
|
DOID:2600
|
-
laryngeal carcinoma
-
Aliases:
-
cancer of larynx
-
carcinoma of larynx
|
|
|
Homo sapiens (human)
|
DOID:14499
|
-
Fabry disease
-
Aliases:
-
Alpha-galactosidase A deficiency
-
Angiokeratoma Corporis Diffusum
-
Fabry Disease, Cardiac Variant
-
Fabry's disease
-
alpha galactosidase deficiency
-
deficiency of melibiase
|
|
|
Homo sapiens (human)
|
DOID:0050689
|
-
brachydactyly-syndactyly syndrome
|
|
|
Homo sapiens (human)
|
DOID:0111218
|
-
Friedreich ataxia 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:870
|
|
|
|
Homo sapiens (human)
|
DOID:640
|
-
encephalomyelitis
-
Aliases:
-
Encephalitis &/or myelitis
|
|
|
Homo sapiens (human)
|
DOID:0110173
|
-
Charcot-Marie-Tooth disease axonal type 2U
-
Aliases:
-
CMT2U
-
Charcot-Marie-Tooth neuropathy type 2U
-
autosomal dominant Charcot-Marie-Tooth disease type 2U
-
autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
|
|
|
Homo sapiens (human)
|