DOID:0111996
|
-
immunodeficiency 51
-
Aliases:
-
CANDF5
-
IMD51
-
familial candidiasis 5
|
|
|
Homo sapiens (human)
|
|
DOID:0111252
|
-
vestibular schwannomatosis
-
Aliases:
-
ACN
-
BANF
-
NF2
-
NF2-related schwannomatosis
-
SWN3
-
SWNV
-
acoustic neurofibromatosis
-
bilateral acoustic neurinoma
-
bilateral acoustic neurofibromatosis
-
bilateral acoustic schwannomas
-
central neurofibromatosis
-
familial acoustic neuromas
-
neurofibromatosis 2
-
neurofibromatosis type II
-
schwannomatosis 3
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:3138
|
-
acanthosis nigricans
-
Aliases:
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0060536
|
-
mitochondrial complex I deficiency
-
Aliases:
-
isolated NADH-CoQ reductase deficiency
-
isolated NADH-coenzyme Q reductase deficiency
-
isolated NADH-ubiquinone reductase deficiency
-
isolated mitochondrial respiratory chain complex I deficiency
|
|
|
Homo sapiens (human)
|
|
DOID:1070
|
-
primary open angle glaucoma
-
Aliases:
|
|
|
Caenorhabditis elegans
|
|
DOID:0111314
|
-
idiopathic generalized epilepsy 13
-
Aliases:
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:12721
|
-
multiple epiphyseal dysplasia
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:0110626
|
-
primary ciliary dyskinesia 2
-
Aliases:
-
CILD2
-
primary ciliary dyskinesia 2 with or without situs inversus
|
|
|
Homo sapiens (human)
|
|
DOID:0111839
|
-
congenital disorder of glycosylation Icc
-
Aliases:
-
congenital disorder of glycosylation type Icc
|
|
|
Xenopus laevis (African clawed frog)
|
|
DOID:0070476
|
-
diphthamide deficiency syndrome
-
Aliases:
-
DEDSSH
-
craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
-
developmental delay with short stature, dysmorphic facial features, and sparse hair
|
|
|
Mus musculus (house mouse)
|
|
DOID:365
|
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:5733
|
|
|
|
Homo sapiens (human)
|
|
DOID:0060565
|
-
Ritscher-Schinzel syndrome
-
Aliases:
-
CCC dysplasia
-
craniocerebellocardiac dysplasia
|
|
|
Mus musculus (house mouse)
|
|
DOID:0050777
|
-
Joubert syndrome
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:552
|
|
|
|
Xenopus tropicalis (tropical clawed frog)
|
|
DOID:0080445
|
-
developmental and epileptic encephalopathy 13
-
Aliases:
-
DEE13
-
early infantile epileptic encephalopathy 13
|
|
|
Drosophila melanogaster (fruit fly)
|
|
DOID:1289
|
-
neurodegenerative disease
-
Aliases:
|
|
|
Saccharomyces cerevisiae S288C
|
|
DOID:8955
|
-
sideroblastic anemia
-
Aliases:
-
ANEMIA SIDEROBLASTIC
-
Anemia, hypochromic with iron loading
|
|
|
Drosophila melanogaster (fruit fly)
|
|
DOID:9974
|
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0060470
|
-
salt and pepper syndrome
-
Aliases:
-
salt & pepper syndrome
-
salt-and-pepper syndrome
|
|
|
Rattus norvegicus (Norway rat)
|
|
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
|
|
|
Xenopus tropicalis (tropical clawed frog)
|
|
DOID:9970
|
|
|
|
Homo sapiens (human)
|
|
DOID:3371
|
-
chondrosarcoma
-
Aliases:
-
Cartilaginous cancer
-
chondrosarcoma of bone
-
primary chondrosarcoma of the bone
|
|
|
Mus musculus (house mouse)
|
|
DOID:0001816
|
|
|
|
Danio rerio (zebrafish)
|
|
DOID:11165
|
|
|
|
Homo sapiens (human)
|
|