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Disease	Synonyms	Description
ovarian clear cell carcinoma	clear-cell ovarian carcinoma	An ovarian carcinoma that has_material_basis_in ce..[+] An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. [-]
Omenn syndrome	combined immunodeficiency with hypereosinophilia	A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. [-]
organ system benign neoplasm		A benign neoplasm that is classified by the organ ..[+] A benign neoplasm that is classified by the organ system from which it is arising from. [-]
osteoblastoma		n_a
ovarian benign neoplasm		n_a
organic acidemia	organic aciduria; organic acid metabolism disorder.. [+] organic aciduria; organic acid metabolism disorder [-]	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. [-]
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	n_a
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	OFD5; orofaciodigital syndrome Thurston type; poly.. [+] orofaciodigital syndrome Thurston type; OFD5; polydactyly, postaxial, with median cleft of upper lip [-]	n_a
orofaciodigital syndrome VII	OFD7; Whelan syndrome	n_a
orofaciodigital syndrome VIII	OFD8; Edwards syndrome	n_a
orofaciodigital syndrome X	orofaciodigital syndrome with fibular aplasia; OFD.. [+] orofaciodigital syndrome with fibular aplasia; OFD10 [-]	n_a
orofaciodigital syndrome XI		n_a
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	OPPG; ocular form of osteogenesis imperfecta	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. [-]
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. [-]
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 OCA2 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 TYRP1 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 OCA5 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. [-]
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	CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANC.. [+] CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from 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 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. [-]
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 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 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 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. [-]
ovarian dysgenesis 3		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. [-]
ovarian dysgenesis 5		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. [-]
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. [-]
occupational asthma		An environmental induced asthma that is characteri..[+] An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. [-]
oral rhabdomyosarcoma		A rhabdomyosarcoma located in the oral cavity.
osteosclerotic metaphyseal dysplasia		A metaphyseal dysplasia that is characterized by d..[+] A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. [-]
oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3		An IDH-mutant, and 1p/19q-codeleted oligodendrogli..[+] An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. [-]
oculopharyngodistal myopathy 2		An oculopharyngodistal myopathy that is characteri..[+] An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. [-]

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