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Disease	Synonyms	Description	Phenotypes
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. [-]

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