DOID:0111459
|
-
classic galactosemia
-
Aliases:
-
GALT deficiency
-
galactose-1-phosphate uridyltransferase deficiency
-
galactosemia type 1
|
|
|
Homo sapiens (human)
|
DOID:4362
|
-
cervical cancer
-
Aliases:
-
cervical neoplasm
-
cervix cancer
-
cervix uteri cancer
-
neoplasm of uterine cervix
-
tumor of the Cervix Uteri
-
uterine cervical neoplasm
|
|
|
Homo sapiens (human)
|
DOID:0110536
|
-
autosomal recessive nonsyndromic deafness 91
-
Aliases:
-
DFNB91
-
autosomal recessive deafness 91
|
|
|
Homo sapiens (human)
|
DOID:0060767
|
-
autosomal dominant Robinow syndrome 3
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0111619
|
-
combined D-2- and L-2-hydroxyglutaric aciduria
-
Aliases:
-
D,L-2-HGA
-
D,L-2-hydroxyglutaric acidemia
-
D,L-2-hydroxyglutaric aciduria
-
combined D,L-2-hydroxyglutaric aciduria
-
combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
-
combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
|
|
|
Homo sapiens (human)
|
DOID:1270
|
-
hereditary hemorrhagic telangiectasia
-
Aliases:
-
Osler hemorrhagic telangiectasia syndrome
-
Osler-Weber-Rendu disease
-
Rendu-Osler-Weber disease
|
|
|
Homo sapiens (human)
|
DOID:13250
|
|
|
|
Homo sapiens (human)
|
DOID:10986
|
|
|
|
Homo sapiens (human)
|
DOID:13316
|
-
exocrine pancreatic insufficiency
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:8469
|
-
influenza
-
Aliases:
-
Influenza with other manifestations
-
flu
-
influenza with non-respiratory manifestation
|
|
|
Homo sapiens (human)
|
DOID:2217
|
-
Bernard-Soulier syndrome
-
Aliases:
-
Bernard - Soulier thrombopathy
-
Bernard Soulier syndrome
-
Giant platelet syndrome
-
Hemorrhagic dystrophic thrombocytopenia
-
Thrombopathy, Bernard-Soulier
|
|
|
Homo sapiens (human)
|
DOID:3713
|
-
ovary adenocarcinoma
-
Aliases:
-
Ovarian adenocarcinoma
-
ovarian adenoacanthoma
|
|
|
Homo sapiens (human)
|
DOID:0110156
|
-
Charcot-Marie-Tooth disease type 2B1
-
Aliases:
-
CMT2B1
-
Charcot-Marie-Tooth disease neuronal type 2B1
-
Charcot-Marie-Tooth neuropathy type 2B1
-
autosomal recessive Charcot-Marie-Tooth disease type 2B1
-
autosomal recessive axonal CMT4C1
-
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
|
|
|
Homo sapiens (human)
|
DOID:0060716
|
-
autosomal recessive congenital ichthyosis 7
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0050754
|
-
ataxia with oculomotor apraxia type 1
|
|
|
Homo sapiens (human)
|
DOID:9368
|
|
|
|
Homo sapiens (human)
|
DOID:0110150
|
-
Charcot-Marie-Tooth disease type 1D
-
Aliases:
-
CMT1D
-
Charcot-Marie-Tooth neuropathy type 1D
-
HMSN ID
-
HMSN1D
-
hereditary motor and sensory neuropathy 1D
|
|
|
Homo sapiens (human)
|
DOID:0070318
|
|
|
|
Homo sapiens (human)
|
DOID:12003
|
-
trachea squamous cell carcinoma
-
Aliases:
-
Tracheal Epidermoid carcinoma
|
|
|
Homo sapiens (human)
|
DOID:2368
|
|
|
|
Homo sapiens (human)
|
DOID:0080301
|
-
atypical hemolytic-uremic syndrome
|
|
|
Homo sapiens (human)
|
DOID:12270
|
-
coloboma
-
Aliases:
-
coloboma of eye
-
coloboma of macula
-
congenital ocular coloboma
|
|
|
Homo sapiens (human)
|
DOID:9622
|
|
|
|
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:93
|
|
|
|
Homo sapiens (human)
|