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Disease name
ORPHAcode
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Alphabetical list
47 Result(s)
ORPHA:2616
3M syndrome
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ORPHA:15
Achondroplasia
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ORPHA:969
Acromicric dysplasia
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ORPHA:1005
Alopecia-contractures-dwarfism-intellectual disability syndrome
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ORPHA:2995
Baraitser-Winter cerebrofrontofacial syndrome
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ORPHA:2619
Brachydactylous dwarfism, Mseleni type
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ORPHA:140
Campomelic dysplasia
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ORPHA:175
Cartilage-hair hypoplasia
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ORPHA:628
Diastrophic dysplasia
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ORPHA:2623
Geleophysic dysplasia
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ORPHA:2078
Geroderma osteodysplastica
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ORPHA:429
Hypochondroplasia
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ORPHA:485
Kniest dysplasia
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ORPHA:2632
Langer mesomelic dysplasia
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ORPHA:633
Laron syndrome
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ORPHA:2370
Larsen-like osseous dysplasia-short stature syndrome
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ORPHA:2658
Lenz-Majewski hyperostotic dwarfism
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ORPHA:240
Léri-Weill dyschondrosteosis
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ORPHA:2634
Mesomelic dwarfism, Reinhardt-Pfeiffer type
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ORPHA:2633
Mesomelic dysplasia, Nievergelt type
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ORPHA:2635
Metatropic dysplasia
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ORPHA:2637
Microcephalic osteodysplastic primordial dwarfism type II
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ORPHA:2636
Microcephalic osteodysplastic primordial dwarfism types I and III
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ORPHA:2643
Microcephalic primordial dwarfism, Toriello type
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ORPHA:2576
Mulibrey nanism
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ORPHA:251
Multiple epiphyseal dysplasia
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ORPHA:467
Non-acquired combined pituitary hormone deficiency
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ORPHA:231720
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
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ORPHA:631
Non-acquired isolated growth hormone deficiency
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ORPHA:176
Non-rhizomelic chondrodysplasia punctata
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ORPHA:2746
Opsismodysplasia
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ORPHA:2653
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
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ORPHA:666
Osteogenesis imperfecta
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ORPHA:2645
Osteoglosphonic dysplasia
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ORPHA:2646
Parastremmatic dwarfism
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ORPHA:750
Pseudoachondroplasia
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ORPHA:457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
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ORPHA:177
Rhizomelic chondrodysplasia punctata
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ORPHA:97360
Robinow syndrome
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ORPHA:808
Seckel syndrome
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ORPHA:1505
Short rib-polydactyly syndrome
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ORPHA:813
Silver-Russell syndrome
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ORPHA:253
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
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ORPHA:254
Spondylometaphyseal dysplasia
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ORPHA:3363
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
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ORPHA:881
Turner syndrome
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ORPHA:3449
Weill-Marchesani syndrome
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