MONDO_merge Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY 32738
Protuberan, Pigmented Dermatofibrosarcoma 23273
Protuberans, Pigmented Dermatofibrosarcoma 23273
Dermatofibrosarcoma Protuberan, Pigmented 23273
Dermatofibrosarcoma Protuberans, Pigmented 23273
Pigmented Dermatofibrosarcoma Protuberan 23273
Pigmented Dermatofibrosarcoma Protuberans 23273
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) 23273
DEAFNESS, AUTOSOMAL RECESSIVE 113 32732
METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION 32736
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 32738
global developmental delay, progressive ataxia, and elevated glutamine 32733
Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia 32733
Pigmented dermatofibrosarcoma protuberans 23273
chromosome 16p13.3 duplication 13273