DOID:10293
|
|
|
|
Homo sapiens (human)
|
|
DOID:2752
|
-
glycogen storage disease II
-
Aliases:
-
Generalized glycogenosis
-
Glycogen storage disease 2
-
Glycogen storage disease, type II
-
Glycogenosis, type 2
-
Lysosomal alpha-1,4-glucosidase deficiency
-
Pompe's disease
-
acid maltase deficiency
-
deficiency of glucoamylase
-
deficiency of maltase
-
glycogen storage disease type II
|
|
|
Homo sapiens (human)
|
|
DOID:12030
|
|
|
|
Homo sapiens (human)
|
|
DOID:0110759
|
-
type 1 diabetes mellitus 22
-
Aliases:
-
IDDM22
-
Insulin-Dependent Diabetes Mellitus 22
|
|
|
Homo sapiens (human)
|
|
DOID:438
|
-
autoimmune disease of the nervous system
|
|
|
Homo sapiens (human)
|
|
DOID:150
|
|
|
|
Homo sapiens (human)
|
|
DOID:12895
|
-
keratoconjunctivitis sicca
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:2997
|
-
Sertoli-Leydig cell tumor
|
|
|
Homo sapiens (human)
|
|
DOID:0110960
|
-
Gaucher's disease perinatal lethal
-
Aliases:
-
Fetal Gaucher Disease
-
Gaucher Disease, Collodion Type
|
|
|
Homo sapiens (human)
|
|
DOID:13359
|
-
Ehlers-Danlos syndrome
-
Aliases:
-
Cutis hyperelastica
-
elastic skin
|
|
|
Homo sapiens (human)
|
|
DOID:0060834
|
-
Griscelli syndrome type 3
-
Aliases:
-
GS3
-
Griscelli-Prunieras syndrome type 3
|
|
|
Homo sapiens (human)
|
|
DOID:0110852
|
-
rhizomelic chondrodysplasia punctata type 2
-
Aliases:
-
Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
-
Dhapat Deficiency
-
Dihydroxyacetonephosphate Acyltransferase Deficiency
-
Glyceronephosphate O-Acyltransferase Deficiency
-
Gnpat Deficiency
-
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
-
Rcdp2
|
|
|
Homo sapiens (human)
|
|
DOID:0060001
|
|
|
|
Homo sapiens (human)
|
|
DOID:11294
|
-
arteriovenous malformation
-
Aliases:
-
Arteriovenous hemangioma
-
Cirsoid aneurysm
-
Racemose Angioma
-
Racemose aneurysm
-
Racemose hemangioma
|
|
|
Homo sapiens (human)
|
|
DOID:106
|
-
pleural tuberculosis
-
Aliases:
-
Pearly disease
-
Tuberculosis of pleura
-
Tuberculous pleurisy
-
Tuberculous pleuritis
-
tuberculous pleurisy in primary progressive tuberculosis
|
|
|
Homo sapiens (human)
|
|
DOID:11120
|
-
psychologic dyspareunia
-
Aliases:
-
Dyspareunia, psychogenic
-
Non-organic dyspareunia
|
|
|
Homo sapiens (human)
|
|
DOID:10041
|
-
dysplastic nevus syndrome
-
Aliases:
-
FAMM syndrome
-
familial atypical multiple mole-melanoma
|
|
|
Homo sapiens (human)
|
|
DOID:0060841
|
-
isolated microphthalmia 8
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0060644
|
-
chondrodysplasia-pseudohermaphroditism syndrome
-
Aliases:
-
Nivelon-Nivelon-Mabille syndrome
-
chondrodysplasia-disorder of sex development syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:0060771
|
-
obsolete dextro-looped transposition of the great arteries 1
|
|
|
Homo sapiens (human)
|
|
DOID:484
|
-
vascular hemostatic disease
|
|
|
Homo sapiens (human)
|
|
DOID:0080560
|
-
congenital disorder of glycosylation Ih
-
Aliases:
-
congenital disorder of glycosylation 1h
|
|
|
Homo sapiens (human)
|
|
DOID:4090
|
-
agnosia
-
Aliases:
-
Dyspraxia
-
Dyspraxia syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:9074
|
-
systemic lupus erythematosus
-
Aliases:
-
Lupus Erythematosus, systemic
-
SLE - Lupus Erythematosus, systemic
-
disseminated lupus erythematosus
|
|
|
Homo sapiens (human)
|
|
DOID:0110168
|
-
Charcot-Marie-Tooth disease type 2Y
-
Aliases:
-
CMT2 due to VCP mutation
-
CMT2Y
-
Charcot-Marie-Tooth neuropathy type 2Y
-
autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
-
autosomal dominant axonal Charcot-Marie-Tooth type 2Y
|
|
|
Homo sapiens (human)
|
|