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Disease	Synonyms	Description	Articles	Phenotypes
ovarian benign neoplasm		A female reproductive organ benign neoplasm that i..[+] A female reproductive organ benign neoplasm that is located_in the ovary. [-]
organic acidemia	organic acid metabolism disorder; organic aciduria.. [+] organic acid metabolism disorder; organic aciduria [-]	An amino acid metabolic disorder that disrupts nor..[+] An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. [-]	1 articles
omodysplasia		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. [-]
Ohdo syndrome	Ohdo blepharophimosis syndrome	A syndrome that is characterized by blepharophimos..[+] A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. [-]
oculodentodigital dysplasia	ODD syndrome	A syndrome characterized by craniofacial, neurolog..[+] A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. [-]
oral hairy leukoplakia	hairy leukoplakia	A mouth disease characterized by a white patch on ..[+] A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. [-]
orofaciodigital syndrome I	orofaciodigital syndrome type I; orofaciodigital s.. [+] orofaciodigital syndrome type I; orofaciodigital syndrome 1; Papillon-Leage-Psaume syndrome [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. [-]
omphalocele	omphalocoele	A physical disorder characterized by a defect in t..[+] A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. [-]
orofaciodigital syndrome III	Sugarman syndrome	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. [-]
orofaciodigital syndrome IV	OFD4; Baraitser-Burn syndrome	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. [-]
orofaciodigital syndrome V	orofaciodigital syndrome Thurston type; OFD5; poly.. [+] OFD5; orofaciodigital syndrome Thurston type; polydactyly, postaxial, with median cleft of upper lip [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. [-]
orofaciodigital syndrome VII	OFD7; Whelan syndrome	n_a
orofaciodigital syndrome VIII	OFD8; Edwards syndrome	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. [-]
orofaciodigital syndrome X	orofaciodigital syndrome with fibular aplasia; OFD.. [+] orofaciodigital syndrome with fibular aplasia; OFD10 [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. [-]
orofaciodigital syndrome XI		An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. [-]
orofaciodigital syndrome IX	orofaciodigital syndrome with retinal abnormalitie.. [+] orofaciodigital syndrome with retinal abnormalities; OFD9 [-]	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. [-]
oculoauricular syndrome		A syndrome characterized by microcornea, microphth..[+] A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. [-]
orange allery	Citrus sinensis fruit allergy	A fruit allergy triggered by Citrus sinensis plant..[+] A fruit allergy triggered by Citrus sinensis plant fruit food product. [-]
osteoporosis-pseudoglioma syndrome	ocular form of osteogenesis imperfecta; OPPG	A syndrome characterized by congenital or infancy-..[+] A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
osteopathia striata with cranial sclerosis	hyperostosis generalisata with striations; Robinow.. [+] hyperostosis generalisata with striations; Robinow-Unger syndrome [-]	An osteosclerosis characterized by longitudinal st..[+] An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. [-]
ossification of the posterior longitudinal ligament of spine	OPLL	A connective tissue disease characterized by ectop..[+] A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. [-]
otosclerosis 1	OTSC1	An otosclerosis that is characterized by isolated ..[+] An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. [-]
otosclerosis 2	OTSC2	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. [-]
otosclerosis 3	OTSC3	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. [-]
otosclerosis 4	OTSC4	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. [-]
otosclerosis 5	OTSC5	An otosclerosis that is characterized by conductiv..[+] An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. [-]
otosclerosis 7	OTSC7	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. [-]
otosclerosis 8	OTSC8	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. [-]
otosclerosis 10	OTSC10	An otosclerosis that has_material_basis_in the loc..[+] An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. [-]
otosclerosis 11	OTSC11	An otosclerosis that is characterized by onset of ..[+] An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. [-]
oculocutaneous albinism type IA	Oculocutaneous Albinism, Tyrosinase-Negative; OCA1.. [+] Oculocutaneous Albinism, Tyrosinase-Negative; OCA1A [-]	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. [-]		3 matches
oculocutaneous albinism type IB	OCA1B; Albinism, Yellow Mutant Type	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. [-]
oculocutaneous albinism type II	Oculocutaneous Albinism, Tyrosinase-Positive; OCA2.. [+] Oculocutaneous Albinism, Tyrosinase-Positive; OCA2 [-]	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. [-]
oculocutaneous albinism type III	OCA3; Rufous Oculocutaneous Albinism	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. [-]
oculocutaneous albinism type IV	OCA4	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. [-]
oculocutaneous albinism type V	OCA5	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. [-]
oculocutaneous albinism type VII	OCA7	An oculocutaneous albinism that has_material_basis..[+] An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. [-]
obstructive nephropathy	CON; congenital obstructive nephropathy	A kidney disease characterized by kidney damage an..[+] A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. [-]
ocular tuberculosis		A tuberculosis that is located_in some eye, has_ma..[+] A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_sypmtom inflamed eyes. [-]
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 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. [-]

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