Disease Name Symbol Acronym
Obesity Due to Sim1 Deficiency OBS060
Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair OBS081 OBAIRH
Obesity, Hyperphagia, and Developmental Delay OBS015 OBHD
Obesity-Hypoventilation Syndrome OBS037
Obsessive-Compulsive Disorder OBS002 OCD
Obsessive-Compulsive Personality Disorder OBS003 OCPD
Obstructive Hydrocephalus OBS004
Obstructive Jaundice OBS001
Obstructive Nephropathy OBS082 CON
Occipital Encephalocele OCC011
Occipital Horn Syndrome OCC006 OHS
Occlusion of Gallbladder OCC004
Occlusion Precerebral Artery OCC005
Occult Macular Dystrophy OCC002 OCMD
Occupational Dermatitis OCC001
Ochronosis OCH001
Ocular Albinism OCL001 OA
Ocular Albinism, X-Linked OCL016 OA1
Ocular Cancer OCL009
Ocular Cicatricial Pemphigoid OCL020 OCP
Ocular Dominance OCL052
Ocular Hyperemia OCL004
Ocular Hypertension OCL006
Ocular Hypotension OCL010
Ocular Melanoma OCL022
Ocular Motility Disease OCL011
Ocular Motor Apraxia OCL069 COMA
Ocular Toxoplasmosis OCL025
Oculoauricular Syndrome OCL048 OCACS
Oculocutaneous Albinism OCL002 OCA
Oculodentodigital Dysplasia OCL013 ODDD
Oculodentodigital Dysplasia, Autosomal Recessive OCL047 ODDD-AR
Oculoectodermal Syndrome OCL039 OES
Oculoglandular Tularemia OCL007
Oculogyric Crisis OCL066
Oculomaxillofacial Dysostosis OCL040
Oculomotor Nerve Paralysis OCL003
Oculopharyngeal Muscular Dystrophy OCL008 OPMD
Oculopharyngodistal Myopathy OCL063 OPDM
Odontochondrodysplasia ODN023 ODCD
Odontogenic Myxoma ODN005
Odontoma ODN006
Odontoonychodermal Dysplasia ODN009 OODD
Oeis Complex OSC001
Ogden Syndrome OGD001 NATD
Oguchi Disease OGC005
Oguchi Disease 1 OGC001 CSNBO1
Oguchi Disease 2 OGC002 CSNBO2
Ohdo Syndrome OHD004
Ohdo Syndrome, Sbbys Variant OHD005 SBBYSS
Ohdo Syndrome, X-Linked OHD003 OHDOX
Ohtahara Syndrome OHT001
Okihiro Syndrome Due to 20q13 Microdeletion OKH002
Okihiro Syndrome Due to a Point Mutation OKH001
Okt4 Epitope Deficiency OKT001
Okur-Chung Neurodevelopmental Syndrome OKR001 OCNDS
Olecranon Bursitis OLC001
Olfactory Groove Meningioma OLF002
Olfactory Nerve Neoplasm OLF004
Olfactory Neuroblastoma OLF005
Oligoarticular Juvenile Idiopathic Arthritis OLG020
Oligoasthenoteratozoospermia OLG022 OAT
Oligoastrocytoma OLG006 MOA
Oligocone Trichromacy OLG014
Oligodendroglioma OLG002
Oligodontia-Colorectal Cancer Syndrome OLG005 ODCRCS
Oligohydramnios OLG003
Oligomeganephronia OLG021
Oligospermia OLG001
Oliver Syndrome OLV002
Oliver-Mcfarlane Syndrome OLV004 OMCS
Olivopontocerebellar Atrophy OLV001 OPCA
Omenn Syndrome OMN001 OS
Omodysplasia OMD003
Omodysplasia 1 OMD001 OMOD1
Omodysplasia 2 OMD002 OMOD2
Omphalocele OMP004
Omphalocele, Autosomal OMP009 OMPHA
Omphalocele, X-Linked OMP010
Omsk Hemorrhagic Fever OMS001 OHF
Onchocerciasis ONC002
Oncocytic Breast Carcinoma ONC001
Oncocytoma ONC007
Oncogenic Osteomalacia ONC003 TIO
Onychomatricoma ONY005
Oocyte Maturation Defect 1 OCY003 OOMD1
Oocyte Maturation Defect 2 OCY002 OOMD2
Oocyte Maturation Defect 3 OCY004 OOMD3
Oocyte Maturation Defect 4 OCY005 OOMD4
Oocyte Maturation Defect 5 OCY006 OOMD5
Oocyte Maturation Defect 6 OCY007 OOMD6
Open-Angle Glaucoma OPN001
Ophthalmia Neonatorum OPH002
Ophthalmomyiasis OPH001
Ophthalmoplegia, External, with Rib and Vertebral Anomalies OPH021 EORVA
Opiate Dependence OPT003
Opioid Abuse OPD001
Opioid Addiction OPD006
Opioid Dependence 1 OPD004 ODS1
Opisthorchiasis OPS001
Opitz Gbbb Syndrome, Type I OPT051 GBBB1
Opitz Gbbb Syndrome, Type Ii OPT050 GBBB2
Opitz-Gbbb Syndrome OPT048
Opitz-Kaveggia Syndrome OPT054 OKS
Opportunistic Bacterial Infectious Disease OPP001
Opportunistic Mycosis OPP002
Oppositional Defiant Disorder OPP004
Opsismodysplasia OPS002 OPSMD
Opsoclonus-Myoclonus Syndrome OPS006 OMS
Optic Atrophy 1 OPT053 OPA1
Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures OPT062 OPA10
Optic Atrophy 11 OPT064 OPA11
Optic Atrophy 2 OPT023 OPA2
Optic Atrophy 3, Autosomal Dominant OPT068 OPA3
Optic Atrophy 4 OPT059 OPA4
Optic Atrophy 5 OPT024 OPA5
Optic Atrophy 6 OPT025 OPA6
Optic Atrophy 7 with or Without Auditory Neuropathy OPT074 OPA7
Optic Atrophy 8 OPT060 OPA8
Optic Atrophy 9 OPT065 OPA9
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy OPT066 DOA+
Optic Disc Anomalies with Retinal and/or Macular Dystrophy OPT058 ODRMD
Optic Disk Drusen OPT001
Optic Nerve Disease OPT006
Optic Nerve Glioma OPT007
Optic Nerve Hypoplasia, Bilateral OPT070 BONH
Optic Nerve Neoplasm OPT008
Optic Nerve Sheath Meningioma OPT002
Optic Neuritis OPT009
Optic Papillitis OPT010
Optic Pathway Glioma OPT032
Oral Antidiabetic Drugs Toxicity or Dose Selection ORL023
Oral Cancer ORL011
Oral Candidiasis ORL005
Oral Cavity Cancer ORL007
Oral Erosive Lichen ORL022
Oral Hairy Leukoplakia ORL019
Oral Leukoplakia ORL012
Oral Lichen Planus ORL013
Oral Mucosa Leukoplakia ORL006
Oral Squamous Cell Carcinoma ORL015
Oral Submucous Fibrosis ORL004 OSMF
Oral Tuberculosis ORL003
Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy ORL028 OFD18
Orbit Embryonal Rhabdomyosarcoma ORB002
Orbit Lymphoma ORB009
Orbit Rhabdomyosarcoma ORB011
Orbital Cancer ORB012
Orbital Cellulitis ORB006
Orbital Cyst ORB007
Orbital Disease ORB013 ORBIT
Orbital Granuloma ORB010
Orbital Leiomyoma ORB018
Orbital Lymphangioma ORB014
Orbital Lymphoma ORB020
Orbital Melanoma ORB015
Orbital Plasma Cell Granuloma ORB008
Orbital Tenonitis ORB003
Orchitis ORC001
Organic Acidemia ORG002
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to ORN008 OTCD
Ornithinemia ORN004
Ornithosis ORN001
Orofacial Cleft ORF002
Orofacial Cleft 1 ORF048 OFC
Orofacial Cleft 10 ORF028 OFC10
Orofacial Cleft 11 ORF027 OFC11
Orofacial Cleft 12 ORF020 OFC12
Orofacial Cleft 13 ORF029 OFC13
Orofacial Cleft 14 ORF031 OFC14
Orofacial Cleft 15 ORF047 OFC15
Orofacial Cleft 2 ORF050 OFC2
Orofacial Cleft 3 ORF049 OFC3
Orofacial Cleft 4 ORF023 OFC4
Orofacial Cleft 5 ORF014 OFC5
Orofacial Cleft 6 ORF025 OFC6
Orofacial Cleft 8 ORF016 OFC8
Orofacial Cleft 9 ORF024 OFC9
Orofacial Granulomatosis ORF044
Orofaciodigital Syndrome ORF001 OFD
Orofaciodigital Syndrome I ORF037 OFD1
Orofaciodigital Syndrome Iii ORF038 OFD3
Orofaciodigital Syndrome Iv ORF035 OFD4
Orofaciodigital Syndrome V ORF033 OFD5
Orofaciodigital Syndrome Vi ORF034 OFD6
Orofaciodigital Syndrome Viii ORF040 OFD8
Orofaciodigital Syndrome Xiv ORF036 OFD14
Orofaciodigital Syndrome Xv ORF045 OFD15
Orofaciodigital Syndrome Xvi ORF046 OFD16
Orofaciodigital Syndrome Xvii ORF051 OFD17
Orofaciodigital Syndrome Xviii ORF052 OFD18
Oromandibular Dystonia ORM002
Oropharynx Cancer ORP003
Oropouche Fever ORP002
Orotic Aciduria ORT008 ORAC1
Orstavik Lindemann Solberg Syndrome ORS001
Orthostatic Hypotension 1 ORT011 DBH DEFICIENCY
Orthostatic Hypotension 2 ORT012 ORTHYP2
Orthostatic Hypotensive Disorder, Streeten Type ORT010 OHDS
Orthostatic Intolerance ORT004 OI
Orthostatic Proteinuria ORT001
Osgood-Schlatter's Disease OSG001
Osmotic Diarrhea OSM001
Osseous Heteroplasia, Progressive OSS012 POH
Ossification of the Posterior Longitudinal Ligament of Spine OSS014 OPLL
Ossifying Fibroma OSS001
Ossifying Fibromyxoid Tumor OSS002
Osteitis Fibrosa OST004
Osteoarthritis OST012 OA
Osteoarthritis with Mild Chondrodysplasia OST062 OSCDP
Osteoblastoma OST006
Osteochondritis Dissecans OST009 OCD
Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits OST172 OCBMD
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type OST153 OCLSBG
Osteochondroma OST028
Osteochondrosis OST016
Osteofibrous Dysplasia OST032 OSFD
Osteogenesis Imperfecta, Type I OST135 OI1
Osteogenesis Imperfecta, Type Ii OST080 OI2
Osteogenesis Imperfecta, Type Iii OST122 OI3
Osteogenesis Imperfecta, Type Iv OST121 OI4
Osteogenesis Imperfecta, Type Ix OST130 OI9
Osteogenesis Imperfecta, Type V OST124 OI5
Osteogenesis Imperfecta, Type Vi OST132 OI6
Osteogenesis Imperfecta, Type Vii OST119 OI7
Osteogenesis Imperfecta, Type Viii OST118 OI8
Osteogenesis Imperfecta, Type X OST127 OI10
Osteogenesis Imperfecta, Type Xi OST133 OI11
Osteogenesis Imperfecta, Type Xii OST128 OI12
Osteogenesis Imperfecta, Type Xiii OST123 OI13
Osteogenesis Imperfecta, Type Xiv OST109 OI14
Osteogenesis Imperfecta, Type Xix OST170 OI19
Osteogenesis Imperfecta, Type Xv OST110 OI15
Osteogenesis Imperfecta, Type Xvi OST139 OI16
Osteogenesis Imperfecta, Type Xvii OST138 OI17
Osteogenesis Imperfecta, Type Xviii OST169 OI18
Osteogenic Sarcoma OST159 OSRC
Osteoglophonic Dysplasia OST044 OGD
Osteoid Osteoma OST160
Osteomalacia OST011
Osteomyelitis OST017
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis OST167 DIRA
Osteonecrosis OST003
Osteonecrosis of the Jaw OST115
Osteopathia Striata with Cranial Sclerosis OST022 OSCS
Osteopetrosis OST001
Osteopetrosis, Autosomal Dominant 1 OST125 OPTA1
Osteopetrosis, Autosomal Dominant 2 OST131 OPTA2
Osteopetrosis, Autosomal Dominant 3 OST171 OPTA3
Osteopetrosis, Autosomal Recessive 1 OST126 OPTB1
Osteopetrosis, Autosomal Recessive 2 OST129 OPTB2
Osteopetrosis, Autosomal Recessive 3 OST163 OPTB3
Osteopetrosis, Autosomal Recessive 4 OST137 OPTB4
Osteopetrosis, Autosomal Recessive 5 OST120 OPTB5
Osteopetrosis, Autosomal Recessive 6 OST134 OPTB6
Osteopetrosis, Autosomal Recessive 7 OST136 OPTB7
Osteopetrosis, Autosomal Recessive 8 OST106 OPTB8
Osteopoikilosis OST014
Osteoporosis OST002 OSTEOP
Osteoporosis, Juvenile OST164 IJO
Osteoporosis-Pseudoglioma Syndrome OST024 OPPG
Osteoporotic Fracture OST097
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome OST114
Osteosclerotic Metaphyseal Dysplasia OST168 OSMD
Osteosclerotic Myeloma OST008
Ostertagiasis OST007
Otitis Externa OTT001
Otitis Media OTT002 OM
Otodental Dysplasia OTD001 OOD
Otofaciocervical Syndrome 1 OTF004 OTFCS1
Otofaciocervical Syndrome 2 OTF003 OTFCS2
Otomycosis OTM001
Otopalatodigital Spectrum Disorders OTP002
Otopalatodigital Syndrome, Type I OTP006 OPD1
Otopalatodigital Syndrome, Type Ii OTP007 OPD2
Otosclerosis OTS001
Otosclerosis 1 OTS005 OTS
Otosclerosis 10 OTS012
Otosclerosis 2 OTS006 OTSC2
Otosclerosis 3 OTS007 OTSC3
Otosclerosis 4 OTS008 OTSC4
Otosclerosis 5 OTS009 OTSC5
Otosclerosis 7 OTS010 OTSC7
Otosclerosis 8 OTS011 OTSC8
Otospondylomegaepiphyseal Dysplasia OTS002 OSMED
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant OTS014 OSMEDA
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive OTS013 OSMEDB
Ouabain Resistance OBN001 OUBR
Ovalocytosis, Southeast Asian OVL001 SAO
Ovarian Angiosarcoma OVR003
Ovarian Benign Neoplasm OVR041
Ovarian Brenner Tumor OVR010
Ovarian Cancer OVR042 OC
Ovarian Cancer 1 OVR114
Ovarian Carcinosarcoma OVR044
Ovarian Clear Cell Adenocarcinoma OVR034
Ovarian Clear Cell Adenofibroma OVR045
Ovarian Clear Cell Carcinoma OVR106
Ovarian Cyst OVR046
Ovarian Cystadenocarcinoma OVR047
Ovarian Cystadenoma OVR048
Ovarian Cystic Teratoma OVR017
Ovarian Disease OVR049
Ovarian Dysgenesis 1 OVR075 ODG1
Ovarian Dysgenesis 2 OVR076 ODG2
Ovarian Dysgenesis 3 OVR102 ODG3
Ovarian Dysgenesis 4 OVR107 ODG4
Ovarian Dysgenesis 5 OVR115 ODG5
Ovarian Dysgenesis 6 OVR118 ODG6
Ovarian Dysgenesis 7 OVR119 ODG7
Ovarian Dysgenesis 8 OVR120 ODG8
Ovarian Embryonal Carcinoma OVR050
Ovarian Endodermal Sinus Tumor OVR051
Ovarian Endometrial Cancer OVR103
Ovarian Endometrioid Adenofibroma OVR052
Ovarian Endometrioid Stromal Sarcoma OVR016
Ovarian Epithelial Cancer OVR094 EOC
Ovarian Fibrothecoma OVR097
Ovarian Germ Cell Cancer OVR112
Ovarian Germ Cell Teratoma OVR109
Ovarian Gonadoblastoma OVR009
Ovarian Hyperstimulation Syndrome OVR029 OHSS
Ovarian Large-Cell Neuroendocrine Carcinoma OVR005
Ovarian Lymphoma OVR021
Ovarian Melanoma OVR104
Ovarian Mixed Germ Cell Neoplasm OVR015
Ovarian Mucinous Adenocarcinoma OVR011
Ovarian Mucinous Adenofibroma OVR053
Ovarian Mucinous Cystadenocarcinoma OVR013
Ovarian Mucinous Neoplasm OVR054
Ovarian Primitive Germ Cell Tumor OVR056
Ovarian Remnant Syndrome OVR073
Ovarian Seromucinous Carcinoma OVR123
Ovarian Serous Adenofibroma OVR057
Ovarian Serous Carcinoma OVR105
Ovarian Serous Cystadenocarcinoma OVR012
Ovarian Serous Cystadenofibroma OVR002
Ovarian Sex-Cord Stromal Tumor OVR121
Ovarian Small Cell Carcinoma OVR058 SCCO
Ovarian Solid Teratoma OVR037
Ovarian Squamous Cell Carcinoma OVR027
Ovarian Stromal Hyperthecosis OVR001
Ovarian Wilms' Cancer OVR020
Ovary Adenocarcinoma OVR059
Ovary Epithelial Cancer OVR060
Ovary Neuroendocrine Neoplasm OVR004
Ovary Sarcoma OVR061
Ovary Serous Adenocarcinoma OVR062
Ovary Transitional Cell Carcinoma OVR026
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome OVR110
Overhydrated Hereditary Stomatocytosis OVR093 OHST
Overnutrition OVR063
Oxirane Allergy OXR001
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