| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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optic atrophy 6
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OPA6
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An optic atrophy characterized by early onset of s.. [+]An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.
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optic atrophy 11
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OPA11
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An optic atrophy characterized by delayed psychomo.. [+]An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.
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optic atrophy 7
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optic atrophy 7 with or without auditory neuropath..
[+]
optic atrophy 7 with or without auditory neuropathy; OPA7
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An optic atrophy characterized by juvenile onset, .. [+]An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
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optic atrophy 5
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OPA5
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An optic atrophy characterized by degeneration of .. [+]An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
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optic atrophy 8
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OPA8
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An optic atrophy characterized by progressive visu.. [+]An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22.
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optic atrophy 4
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OPA4
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An optic atrophy that has_material_basis_in hetero.. [+]An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
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optic atrophy 1
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OPA1
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An optic atrophy characterized by early childhood .. [+]An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
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optic atrophy 9
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OPA9
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An optic atrophy characterized by early childhood .. [+]An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2.
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optic atrophy 2
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OPA2; X-linked optic atrophy 2
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An optic atrophy that has_material_basis_in variat.. [+]An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21.
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osteoglophonic dysplasia
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OGD; osteoglophonic dwarfism; Fairbank-Keats syndr..
[+]
osteoglophonic dwarfism; OGD; Fairbank-Keats syndrome
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An osteochondrodysplasia characterized by rhizomel.. [+]An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23.
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overhydrated hereditary stomatocytosis
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OHS; potassium sodium disorder of erythrocyte; sto..
[+]
OHS; potassium sodium disorder of erythrocyte; stomatocytosisIOHST
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A macrocytic anemia characterized by macrocytic he.. [+]A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.
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oculoectodermal syndrome
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aplasia cutis congenita-epibulbar dermoids syndrom..
[+]aplasia cutis congenita-epibulbar dermoids syndrome; Toriello-Lacassie-Droste syndrome
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An ectodermal dysplasia characterized by epibulbar.. [+]An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
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oblique facial clefting 1
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Tessier number 4 facial cleft
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An orofacial cleft characterized by a congenital u.. [+]An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23.
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otopalatodigital syndrome spectrum disorder
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OPD spectrum disorder; OPSD; fronto-otopalatodigit..
[+]
OPSD; OPD spectrum disorder; fronto-otopalatodigital osteodysplasia
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A bone development disease characterized by typica.. [+]A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
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otopalatodigital syndrome type 1
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otopalatodigital syndrome type I; OPD I syndrome; ..
[+]
OPD I syndrome; otopalatodigital syndrome type I; oto-palato-digital syndrome type 1; OPD1; OPD syndrome 1; Taybi syndrome
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An otopalatodigital syndrome spectrum disorder cha.. [+]An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
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otopalatodigital syndrome type 2
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oto-palato-digital syndrome type 2; otopalatodigit..
[+]
oto-palato-digital syndrome type 2; otopalatodigital syndrome type II; OPD2; OPD syndrome 2; OPD II syndrome; faciopalatoosseous syndrome; Andre syndrome
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An otopalatodigital syndrome spectrum disorder cha.. [+]An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
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osteogenesis imperfecta type 19
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osteogenesis imperfecta type XIX; OI19
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An osteogenesis imperfecta characterized by prenat.. [+]An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
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osteogenesis imperfecta type 18
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osteogenesis imperfecta, type XVIII; OI18
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An osteogenesis imperfecta characterized by congen.. [+]An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
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osteogenesis imperfecta type 20
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osteogenesis imperfecta type XX; OI20
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An osteogenesis imperfecta characterized by osteop.. [+]An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
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osteogenesis imperfecta type 21
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osteogenesis imperfecta type XXI; OI21
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An osteogenesis imperfecta characterized by multip.. [+]An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.
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