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Disease	Synonyms	Description
overactive bladder syndrome	OAB; overactive bladder; urge syndrome; urgency-fr.. [+] overactive bladder; OAB; urge syndrome; urgency-frequency syndrome [-]	A bladder disease characterized by urinary urgency..[+] A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. [-]
otospondylomegaepiphyseal dysplasia, autosomal recessive	OSMEDB; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHOND.. [+] OSMEDB; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. [-]
otulipenia	otulin-related autoinflammatory syndrome; autoinfl.. [+] otulin-related autoinflammatory syndrome; autoinflammation, panniculitis and dermatosis syndrome [-]	An immune system disease that is characterized by ..[+] An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. [-]
orofaciodigital syndrome XVI		An orofaciodigital syndrome that has_material_basi..[+] An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. [-]
orofaciodigital syndrome XVII		An orofaciodigital syndrome that has_material_basi..[+] An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. [-]
ovarian sex-cord stromal tumor		A sex cord-gonadal stromal tumor that arises from ..[+] A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. [-]
ovarian sex cord-stromal benign neoplasm		A sex cord-stromal benign neoplasm that arises fro..[+] A sex cord-stromal benign neoplasm that arises from the ovary. [-]
orofacial cleft 1	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 1 [-]	An orofacial cleft characterized by autosomal domi..[+] An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. [-]
orofacial cleft 2	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 2 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. [-]
orofacial cleft 3	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 3 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. [-]
orofacial cleft 4	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 4 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. [-]
orofacial cleft 5	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 5 [-]	An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. [-]
orofacial cleft 7	Zlotogora-Ogur syndrome	An orofacial cleft that has_material_basis_in by h..[+] An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. [-]
orofacial cleft 9	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 9 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. [-]
orofacial cleft 10	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 10 [-]	An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. [-]
orofacial cleft 11	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 11 [-]	An orofacial cleft that has_material_basis_in hete..[+] An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. [-]
orofacial cleft 12	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 12 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. [-]
ovarian dysgenesis 2		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. [-]
oculocutaneous albinism type VI		An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. [-]
optic disc anomalies with retinal and/or macular dystrophy		A microphthalmia that has_material_basis_in homozy..[+] A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. [-]

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