ontology browser - Robuta Search

https://www.informatics.jax.org/disease/DOID:0111437 optic atrophy 7 Disease Ontology Browser - DOID:0111437 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: OPA7; optic atrophy 7 with or without auditory neuropathy optic atrophy ontology browser disease doid https://www.informatics.jax.org/disease/601634 neural tube defect Disease Ontology Browser - DOID:0080074 Mutations in human and/or mouse homologs are associated with this disease. ontology browser neural tube defect disease https://www.informatics.jax.org/disease/DOID:0110457 dilated cardiomyopathy 1Y Disease Ontology Browser - DOID:0110457 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CMD1Y dilated cardiomyopathy ontology browser disease doid https://www.informatics.jax.org/disease/DOID:0061115 Carey-Fineman-Ziter syndrome 1 Disease Ontology Browser - DOID:0061115 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CFZS1 ontology browser carey fineman syndrome disease https://www.informatics.jax.org/disease/DOID:0050855 renal fibrosis Disease Ontology Browser - DOID:0050855 Mutations in human and/or mouse homologs are associated with this disease. ontology browser renal fibrosis disease doid https://www.informatics.jax.org/disease/DOID:0070549 primary pigmented nodular adrenocortical disease 4 Disease Ontology Browser - DOID:0070549 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: chromosome 19p13 duplication syndrome; PPNAD4 ontology browser primary pigmented disease doid https://www.informatics.jax.org/disease/DOID:13129 severe pre-eclampsia Disease Ontology Browser - DOID:13129 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: antepartum severe pre-eclampsia; postpartum severe pre-eclampsia; Severe... ontology browser severe pre eclampsia disease https://www.informatics.jax.org/disease/DOID:0111339 Vohwinkel syndrome Disease Ontology Browser - DOID:0111339 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: congenital deafness with keratopachydermia and constrictions fo fingers... ontology browser vohwinkel syndrome disease doid https://www.informatics.jax.org/disease/DOID:0061136 infantile hypercalcemia 1 Disease Ontology Browser - DOID:0061136 Mutations in human and/or mouse homologs are associated with this disease. ontology browser infantile hypercalcemia disease doid https://www.informatics.jax.org/disease/DOID:0080067 Charcot-Marie-Tooth disease type 5 Disease Ontology Browser - DOID:0080067 There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: hereditary motor and sensory neuropathy with pyramidal... charcot marie tooth disease ontology browser type doid https://www.informatics.jax.org/disease/DOID:0070087 schizophrenia 11 Disease Ontology Browser - DOID:0070087 There are currently no human or mouse genes associated with this disease in the MGI database. Synonyms: SCZD11 ontology browser schizophrenia disease doid https://www.informatics.jax.org/disease/DOID:0111826 Abruzzo-Erickson syndrome Disease Ontology Browser - DOID:0111826 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome ontology browser abruzzo erickson syndrome disease https://www.informatics.jax.org/disease/DOID:0111394 mucopolysaccharidosis type IIIB Disease Ontology Browser - DOID:0111394 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: MPS3B; MPSIIIB; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type... ontology browser mucopolysaccharidosis type disease doid https://www.informatics.jax.org/disease/DOID:0111460 cardiofaciocutaneous syndrome 1 Disease Ontology Browser - DOID:0111460 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: CFC1 cardiofaciocutaneous syndrome ontology browser disease doid https://www.informatics.jax.org/disease/DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 Disease Ontology Browser - DOID:0090047 There are currently no human or mouse genes associated with this disease in the MGI database. ontology browser dyskinesia disease doid https://www.informatics.jax.org/disease/DOID:0061076 immunodeficiency 107 Disease Ontology Browser - DOID:0061076 Mutations in human and/or mouse homologs are associated with this disease. Synonyms: immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus... ontology browser immunodeficiency disease 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 ontology browser congenital hypothyroidism disease doid https://www.informatics.jax.org/disease/DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia Disease Ontology Browser - DOID:0090093 Mutations in human and/or mouse homologs are associated with this disease.