ontology browser - Robuta Search

https://www.informatics.jax.org/disease/DOID:9892 median arcuate ligament syndrome Disease Ontology Browser - DOID:9892 There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: Celiac artery compression syndrome; Harjola-Marable... disease ontology median arcuate ligament syndrome https://www.informatics.jax.org/disease/DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II Disease Ontology Browser - DOID:0060609 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic... type ii disease ontology primordial dwarfism https://www.informatics.jax.org/disease/DOID:11400 pyelonephritis Disease Ontology Browser - DOID:11400 Mutations in human and/or mouse homologs are associated with this disease. disease ontology pyelonephritis browser doid https://www.informatics.jax.org/disease/DOID:9250 acrocallosal syndrome Disease Ontology Browser - DOID:9250 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: ACLS; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syndrome 1 disease ontology syndrome browser doid https://www.informatics.jax.org/disease/DOID:0070220 familial hyperinsulinemic hypoglycemia 5 Disease Ontology Browser - DOID:0070220 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency;... disease ontology familial hypoglycemia browser doid https://www.informatics.jax.org/disease/DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 Disease Ontology Browser - DOID:0060248 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara... disease ontology simpson syndrome type https://www.informatics.jax.org/disease/DOID:0111598 distal arthrogryposis type 1B Disease Ontology Browser - DOID:0111598 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: DA1B distal arthrogryposis disease ontology type browser doid https://www.informatics.jax.org/disease/DOID:0050945 spastic ataxia 7 Disease Ontology Browser - DOID:0050945 There are currently no human or mouse genes associated with this disease in the MGI database. disease ontology spastic ataxia browser doid https://www.informatics.jax.org/disease/DOID:3526 cerebral infarction Disease Ontology Browser - DOID:3526 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Cerebral infarct disease ontology cerebral infarction browser doid https://www.informatics.jax.org/disease/DOID:0070337 epithelial recurrent erosion dystrophy Disease Ontology Browser - DOID:0070337 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: COL17A1; ERED disease ontology epithelial recurrent erosion dystrophy https://www.informatics.jax.org/disease/DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 Disease Ontology Browser - DOID:0080727 Mutations in human and/or mouse homologs are associated with this disease. ehlers danlos syndrome disease ontology type https://www.informatics.jax.org/disease/DOID:0110798 hereditary spastic paraplegia 46 Disease Ontology Browser - DOID:0110798 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal recessive spastic paraplegia 46; autosomal recessive spastic... hereditary spastic paraplegia disease ontology browser doid https://www.informatics.jax.org/disease/DOID:0110404 retinitis pigmentosa 17 Disease Ontology Browser - DOID:0110404 There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: RP17 retinitis pigmentosa disease ontology browser doid https://www.informatics.jax.org/disease/DOID:0070216 familial hyperinsulinemic hypoglycemia 3 Disease Ontology Browser - DOID:0070216 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: HHF3; hyperinsulinemic hypoglycemia due to glucokinase deficiency;... disease ontology familial hypoglycemia browser doid https://www.informatics.jax.org/disease/DOID:5683 hereditary breast ovarian cancer syndrome Disease Ontology Browser - DOID:5683 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer; Breast... ovarian cancer disease ontology hereditary breast syndrome https://www.informatics.jax.org/disease/DOID:1875 impotence Disease Ontology Browser - DOID:1875 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: erectile dysfunction; Sexual impotence disease ontology impotence browser doid https://www.informatics.jax.org/disease/DOID:0080344 blepharocheilodontic syndrome Disease Ontology Browser - DOID:0080344 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Blepharo-cheilo-odontic syndrome disease ontology syndrome browser doid https://www.informatics.jax.org/disease/DOID:0110229 cataract 6 multiple types Disease Ontology Browser - DOID:0110229 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: age related cortical cataract 2; ARCC2; CTPP1; CTRCT6; posterior polar... multiple types disease ontology cataract browser doid https://www.informatics.jax.org/disease/DOID:0110235 cataract 2 multiple types Disease Ontology Browser - DOID:0110235 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: cataract 2 multiple types with or without microcornea; CTRCT2 multiple types disease ontology cataract browser doid https://www.informatics.jax.org/disease/DOID:0080334 aortic valve disease 2 Disease Ontology Browser - DOID:0080334 Mutations in human and/or mouse homologs are associated with this disease. aortic valve disease ontology browser doid https://www.informatics.jax.org/disease/DOID:0110366 retinitis pigmentosa 33 Disease Ontology Browser - DOID:0110366 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: RP33 retinitis pigmentosa disease ontology browser doid https://www.informatics.jax.org/disease/DOID:0111534 multicentric carpotarsal osteolysis syndrome Disease Ontology Browser - DOID:0111534 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal dominant multicentric osteolysis; hereditary osteolysis of... disease ontology syndrome browser doid https://www.informatics.jax.org/disease/DOID:0110681 congenital myasthenic syndrome 2A Disease Ontology Browser - DOID:0110681 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CMS2A; congenital myasthenic syndrome 2A slow-channel disease ontology congenital syndrome browser doid https://www.informatics.jax.org/disease/DOID:0070124 congenital nongoitrous hypothyroidism 2 Disease Ontology Browser - DOID:0070124 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CHNG2; congenital hypothyroidism due to thyroid dysgenesis or hypoplasia disease ontology congenital hypothyroidism browser doid https://www.informatics.jax.org/disease/DOID:0110168 Charcot-Marie-Tooth disease type 2Y Disease Ontology Browser - DOID:0110168 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: autosomal dominant axonal Charcot-Marie-Tooth type 2Y; autosomal dominant... charcot marie tooth disease ontology browser type doid https://www.informatics.jax.org/disease/DOID:9892 median arcuate ligament syndrome Disease Ontology Browser - DOID:9892 There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: Celiac artery compression syndrome; Harjola-Marable... disease ontology median arcuate ligament syndrome https://www.informatics.jax.org/disease/DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II Disease Ontology Browser - DOID:0060609 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Majewski osteodysplastic primordial dwarfism type II; osteodysplastic... type ii disease ontology primordial dwarfism https://www.informatics.jax.org/disease/DOID:11400 pyelonephritis Disease Ontology Browser - DOID:11400 Mutations in human and/or mouse homologs are associated with this disease. disease ontology pyelonephritis browser doid https://www.informatics.jax.org/disease/DOID:9250 acrocallosal syndrome Disease Ontology Browser - DOID:9250 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: ACLS; SCHINZEL ACROCALLOSAL SYNDROME; Schinzel syndrome 1 disease ontology syndrome browser doid https://www.informatics.jax.org/disease/DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Disease Ontology Browser -... Mutations in human and/or mouse homologs are associated with this disease. Synonyms: metaphyseal dysplasia maxillary hypoplasia brachydactyly; metaphyseal... disease ontology dysplasia hypoplasia syndrome browser https://www.informatics.jax.org/disease/DOID:0070220 familial hyperinsulinemic hypoglycemia 5 Disease Ontology Browser - DOID:0070220 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency;... disease ontology familial hypoglycemia browser doid https://www.informatics.jax.org/disease/DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 Disease Ontology Browser - DOID:0060248 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: bulldog syndrome; DGSX Golabi-Rosen syndrome; Golabi-Rosen syndrome; Sara... disease ontology simpson syndrome type https://www.informatics.jax.org/disease/DOID:0111598 distal arthrogryposis type 1B Disease Ontology Browser - DOID:0111598 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: DA1B distal arthrogryposis disease ontology type browser doid