DOID:0060853
|
-
Potocki-Lupski syndrome
-
Aliases:
-
17p11.2 microduplication syndrome
-
chromosome 17p11.2 duplication syndrome
-
trisomy 17p11.2
|
|
|
Homo sapiens (human)
|
|
DOID:0080547
|
-
metabolic dysfunction-associated steatohepatitis
-
Aliases:
-
MASH
-
NASH
-
non-alcoholic steatohepatitis
-
nonalcoholic steatohepatitis
|
|
|
Mus musculus (house mouse)
|
|
DOID:863
|
|
|
|
Homo sapiens (human)
|
|
DOID:0050941
|
|
|
|
Homo sapiens (human)
|
|
DOID:3389
|
-
Papillon-Lefevre disease
-
Aliases:
-
Papillon Lefevre syndrome
-
Papillon-Lefvre syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:0070398
|
-
hypomyelinating leukodystrophy 15
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:1686
|
|
|
|
Mus musculus (house mouse)
|
|
DOID:0060246
|
-
MASA syndrome
-
Aliases:
-
CRASH syndrome
-
Gareis-Mason syndrome
-
L1 syndrome
-
SPG1
-
X-linked complicated hereditary spastic paraplegia type 1
-
X-linked corpus callosum agenesis
-
X-linked spastic paraplegia 1
-
hereditary spastic paraplegia 1
|
|
|
Homo sapiens (human)
|
|
DOID:2058
|
-
chronic mucocutaneous candidiasis
|
|
|
Homo sapiens (human)
|
|
DOID:0111287
|
|
|
|
Homo sapiens (human)
|
|
DOID:3748
|
-
esophagus squamous cell carcinoma
-
Aliases:
-
SCC of esophagus
-
SCC of oesophagus
-
oesophagus squamous cell carcinoma
|
|
|
Homo sapiens (human)
|
|
DOID:6039
|
|
|
|
Homo sapiens (human)
|
|
DOID:0081226
|
-
autosomal recessive intellectual developmental disorder 65
|
|
|
Homo sapiens (human)
|
|
DOID:0060809
|
-
syndromic X-linked intellectual disability Claes-Jensen type
-
Aliases:
-
MRXSCJ
-
MRXSJ
-
mental retardation, X-linked, syndromic, Claes-Jensen type
-
syndromic X-linked intellectual disability due to JARID1C mutation
-
syndromic X-linked mental retardation JARID1C-related
|
|
|
Homo sapiens (human)
|
|
DOID:12241
|
|
|
|
Homo sapiens (human)
|
|
DOID:1826
|
-
epilepsy
-
Aliases:
-
epilepsy syndrome
-
epileptic syndrome
|
|
|
Mus musculus (house mouse)
|
|
DOID:0090003
|
-
agenesis of the corpus callosum with peripheral neuropathy
-
Aliases:
-
Andermann syndrome
-
Charlevoix disease
-
corpus callosum agenesis-neuronopathy syndrome
|
|
|
Mus musculus (house mouse)
|
|
DOID:2477
|
-
motor peripheral neuropathy
-
Aliases:
-
HSMN
-
HSMN - Hereditary sensory and motor neuropathy
-
Hereditary motor and sensory neuropathy
-
Peripheral Motor Neuropathy
-
neuropathic muscular atrophy
|
|
|
Mus musculus (house mouse)
|
|
DOID:0060041
|
|
|
|
Mus musculus (house mouse)
|
|
DOID:3069
|
-
malignant astrocytoma
-
Aliases:
-
Astrocytic tumor
-
astrocytoma of Cerebrum
-
astrocytoma of brain
-
astroglioma
-
cerebral astrocytoma
|
|
|
Mus musculus (house mouse)
|
|
DOID:4450
|
-
renal cell carcinoma
-
Aliases:
-
RCC
-
adenocarcinoma of kidney
-
hypernephroma
|
|
|
Mus musculus (house mouse)
|
|
DOID:3008
|
-
invasive ductal carcinoma
-
Aliases:
-
Infiltrating ductal carcinoma of breast
-
Invasive ductal carcinoma, NST
-
ductal adenocarcinoma
|
|
|
Mus musculus (house mouse)
|
|
DOID:3068
|
-
glioblastoma
-
Aliases:
-
GBM
-
adult glioblastoma multiforme
-
glioblastoma multiforme
-
grade IV adult Astrocytic tumor
-
primary glioblastoma multiforme
-
spongioblastoma multiforme
|
|
|
Mus musculus (house mouse)
|
|
DOID:4074
|
-
pancreatic adenocarcinoma
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:13189
|
-
gout
-
Aliases:
-
Articular gout
-
Gouty arthropathy
-
gouty arthritis
|
|
|
Homo sapiens (human)
|
|