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Disease	Synonyms	Description
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. [-]
orofacial cleft 13		An orofacial cleft characterized by autosomal doni..[+] An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. [-]
orofacial cleft 14		An orofacial cleft that is characterized by incomp..[+] An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. [-]
orofacial cleft 15		An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. [-]
ovarian dysgenesis 1		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. [-]
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. [-]
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 4		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. [-]
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. [-]
ovarian dysgenesis 6		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. [-]
ovarian dysgenesis 7		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. [-]
ovarian dysgenesis 8		A 46 XX gonadal dysgenesis that has_material_basis..[+] A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. [-]
orofacial cleft 6		An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. [-]
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. [-]
otospondylomegaepiphyseal dysplasia, autosomal dominant		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. [-]
Opitz GBBB syndrome	Opitz GBBB syndrome type I; Opitz G/BBB Syndrome	A syndrome that is a congenital midline malformati..[+] A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. [-]
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. [-]

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