TaoMedAI/RareMedData huggingface dataset:
ORPHA:261920: Partial deletion of the short arm of chromosome 8 syndrome
ORPHA:261920: Partial deletion of chromosome 8p
ORPHA:261920: Partial monosomy of chromosome 8p
ORPHA:261920: Partial monosomy of the short arm of chromosome 8
ORPHA:261929: Partial deletion of the short arm of chromosome 9 syndrome
ORPHA:261929: Partial deletion of chromosome 9p
ORPHA:261929: Partial monosomy of chromosome 9p
ORPHA:261929: Partial monosomy of the short arm of chromosome 9
ORPHA:261938: Partial deletion of the short arm of chromosome 10 syndrome
ORPHA:261938: Partial deletion of chromosome 10p
ORPHA:261938: Partial monosomy of chromosome 10p
ORPHA:261938: Partial monosomy of the short arm of chromosome 10
ORPHA:261947: Partial deletion of the short arm of chromosome 11 syndrome
ORPHA:261947: Partial deletion of chromosome 11p
ORPHA:261947: Partial monosomy of chromosome 11p
ORPHA:261947: Partial monosomy of the short arm of chromosome 11
ORPHA:261956: Partial deletion of the short arm of chromosome 16 syndrome
ORPHA:261956: Partial deletion of chromosome 16p
ORPHA:261956: Partial monosomy of chromosome 16p
ORPHA:261956: Partial monosomy of the short arm of chromosome 16
ORPHA:261965: Partial deletion of the short arm of chromosome 17 syndrome
ORPHA:261965: Partial deletion of chromosome 17p
ORPHA:261965: Partial monosomy of chromosome 17p
ORPHA:261965: Partial monosomy of the short arm of chromosome 17
ORPHA:261974: Partial deletion of the short arm of chromosome 18 syndrome
ORPHA:261974: Partial deletion of chromosome 18p
ORPHA:261974: Partial monosomy of chromosome 18p
ORPHA:261974: Partial monosomy of the short arm of chromosome 18
ORPHA:261983: Partial deletion of the short arm of chromosome 19 syndrome
ORPHA:261983: Partial deletion of chromosome 19p
ORPHA:261983: Partial monosomy of chromosome 19p
ORPHA:261983: Partial monosomy of the short arm of chromosome 19
ORPHA:261992: Partial deletion of the short arm of chromosome 20 syndrome
ORPHA:261992: Partial deletion of chromosome 20p
ORPHA:261992: Partial monosomy of chromosome 20p
ORPHA:261992: Partial monosomy of the short arm of chromosome 20
ORPHA:261992: Pure partial 20p deletion
ORPHA:262: Duchenne and Becker muscular dystrophy
ORPHA:262: Severe dystrophinopathy, Duchenne and Becker type
ORPHA:262001: Partial deletion of the long arm of chromosome 1 syndrome
ORPHA:262001: Partial deletion of chromosome 1q
ORPHA:262001: Partial monosomy of chromosome 1q
ORPHA:262001: Partial monosomy of the long arm of chromosome 1
ORPHA:262010: Partial deletion of the long arm of chromosome 2 syndrome
ORPHA:262010: Partial deletion of chromosome 2q
ORPHA:262010: Partial monosomy of chromosome 2q
ORPHA:262010: Partial monosomy of the long arm of chromosome 2
ORPHA:262019: Partial deletion of the long arm of chromosome 3 syndrome
ORPHA:262019: Partial deletion of chromosome 3q
ORPHA:262019: Partial monosomy of chromosome 3q
ORPHA:262019: Partial monosomy of the long arm of chromosome 3
ORPHA:262029: Partial deletion of the long arm of chromosome 4 syndrome
ORPHA:262029: Partial deletion of chromosome 4q
ORPHA:262029: Partial monosomy of chromosome 4q
ORPHA:262029: Partial monosomy of the long arm of chromosome 4
ORPHA:262038: Partial deletion of the long arm of chromosome 5 syndrome
ORPHA:262038: Partial deletion of chromosome 5q
ORPHA:262038: Partial monosomy of chromosome 5q
ORPHA:262038: Partial monosomy of the long arm of chromosome 5
ORPHA:262047: Partial deletion of the long arm of chromosome 6 syndrome
ORPHA:262047: Partial deletion of chromosome 6q
ORPHA:262047: Partial monosomy of chromosome 6q
ORPHA:262047: Partial monosomy of the long arm of chromosome 6
ORPHA:262056: Partial deletion of the long arm of chromosome 7 syndrome
ORPHA:262056: Partial deletion of chromosome 7q
ORPHA:262056: Partial monosomy of chromosome 7q
ORPHA:262056: Partial monosomy of the long arm of chromosome 7
ORPHA:262065: Partial deletion of the long arm of chromosome 8 syndrome
ORPHA:262065: Partial deletion of chromosome 8q
ORPHA:262065: Partial monosomy of chromosome 8q
ORPHA:262065: Partial monosomy of the long arm of chromosome 8
ORPHA:262074: Partial deletion of the long arm of chromosome 9 syndrome
ORPHA:262074: Partial deletion of chromosome 9q
ORPHA:262074: Partial monosomy of chromosome 9q
ORPHA:262074: Partial monosomy of the long arm of chromosome 9
ORPHA:262083: Partial deletion of the long arm of chromosome 10 syndrome
ORPHA:262083: Partial deletion of chromosome 10q
ORPHA:262083: Partial monosomy of chromosome 10q
ORPHA:262083: Partial monosomy of the long arm of chromosome 10
ORPHA:262092: Partial deletion of the long arm of chromosome 11 syndrome
ORPHA:262092: Partial deletion of chromosome 11q
ORPHA:262092: Partial monosomy of chromosome 11q
ORPHA:262092: Partial monosomy of the long arm of chromosome 11
ORPHA:262101: Partial deletion of the long arm of chromosome 13 syndrome
ORPHA:262101: Partial deletion of chromosome 13q
ORPHA:262101: Partial monosomy of chromosome 13q
ORPHA:262101: Partial monosomy of the long arm of chromosome 13
ORPHA:262110: Partial deletion of the long arm of chromosome 14 syndrome
ORPHA:262110: Partial deletion of chromosome 14q
ORPHA:262110: Partial monosomy of chromosome 14q
ORPHA:262110: Partial monosomy of the long arm of chromosome 14
ORPHA:262119: Partial deletion of the long arm of chromosome 15 syndrome
ORPHA:262119: Partial deletion of chromosome 15q
ORPHA:262119: Partial monosomy of chromosome 15q
ORPHA:262119: Partial monosomy of the long arm of chromosome 15
ORPHA:262128: Partial deletion of the long arm of chromosome 16 syndrome
ORPHA:262128: Partial deletion of chromosome 16q
ORPHA:262128: Partial monosomy of chromosome 16q
ORPHA:262128: Partial monosomy of the long arm of chromosome 16
ORPHA:262137: Partial deletion of the long arm of chromosome 17 syndrome
ORPHA:262137: Partial deletion of chromosome 17q
ORPHA:262137: Partial monosomy of chromosome 17q
ORPHA:262137: Partial monosomy of the long arm of chromosome 17
ORPHA:262146: Partial deletion of the long arm of chromosome 18 syndrome
ORPHA:262146: Partial deletion of chromosome 18q
ORPHA:262146: Partial monosomy of chromosome 18q
ORPHA:262146: Partial monosomy of the long arm of chromosome 18
ORPHA:262155: Partial deletion of the long arm of chromosome 19 syndrome
ORPHA:262155: Partial deletion of chromosome 19q
ORPHA:262155: Partial monosomy of chromosome 19q
ORPHA:262155: Partial monosomy of the long arm of chromosome 19
ORPHA:262164: Partial deletion of the long arm of chromosome 20 syndrome
ORPHA:262164: Partial deletion of chromosome 20q
ORPHA:262164: Partial monosomy of chromosome 20q
ORPHA:262164: Partial monosomy of the long arm of chromosome 20
ORPHA:262173: Partial deletion of the long arm of chromosome 21 syndrome
ORPHA:262173: Partial deletion of chromosome 21q
ORPHA:262173: Partial monosomy of chromosome 21q
ORPHA:262173: Partial monosomy of the long arm of chromosome 21
ORPHA:262182: Partial deletion of the long arm of chromosome 22 syndrome
ORPHA:262182: Partial deletion of chromosome 22q
ORPHA:262182: Partial monosomy of chromosome 22q
ORPHA:262182: Partial monosomy of the long arm of chromosome 22
ORPHA:262191: Partial duplication of chromosome 1 syndrome
ORPHA:262191: Partial trisomy of chromosome 1
ORPHA:262196: Partial duplication of chromosome 2 syndrome
ORPHA:262196: Partial trisomy of chromosome 2
ORPHA:262201: Partial duplication of chromosome 3 syndrome
ORPHA:262201: Partial trisomy of chromosome 3
ORPHA:262206: Partial duplication of chromosome 4 syndrome
ORPHA:262206: Partial trisomy of chromosome 4
ORPHA:262211: Partial duplication/triplication of chromosome 5 syndrome
ORPHA:262211: Partial trisomy/tetrasomy of chromosome 5
ORPHA:2623: Geleophysic dysplasia
ORPHA:2623: Geleophysic dwarfism
ORPHA:262628: Partial duplication of chromosome 6 syndrome
ORPHA:262628: Partial trisomy of chromosome 6
ORPHA:262633: Partial duplication of chromosome 7 syndrome
ORPHA:262633: Partial trisomy of chromosome 7
ORPHA:262638: Partial duplication of chromosome 8 syndrome
ORPHA:262638: Partial trisomy of chromosome 8
ORPHA:262643: Partial duplication/triplication of chromosome 9 syndrome
ORPHA:262643: Partial trisomy/tetrasomy of chromosome 9
ORPHA:262648: Partial duplication of chromosome 10 syndrome
ORPHA:262648: Partial trisomy of chromosome 10
ORPHA:262653: Partial duplication of chromosome 11 syndrome
ORPHA:262653: Partial trisomy of chromosome 11
ORPHA:262658: Partial duplication/triplication of the short arm of chromosome 12 syndrome
ORPHA:262658: Partial duplication/triplication of chromosome 12p
ORPHA:262658: Partial trisomy/tetrasomy of chromosome 12p
ORPHA:262658: Partial trisomy/tetrasomy of the short arm of chromosome 12
ORPHA:262672: Partial duplication of chromosome 16 syndrome
ORPHA:262672: Partial trisomy of chromosome 16
ORPHA:262677: Partial duplication of chromosome 17 syndrome
ORPHA:262677: Partial trisomy of chromosome 17
ORPHA:262682: Partial duplication/triplication of chromosome 18 syndrome
ORPHA:262682: Partial trisomy/tetrasomy of chromosome 18
ORPHA:262687: Partial duplication of chromosome 19 syndrome
ORPHA:262687: Partial trisomy of chromosome 19
ORPHA:262692: Partial duplication of chromosome 20 syndrome
ORPHA:262692: Partial trisomy of chromosome 20
ORPHA:262698: Partial duplication of the short arm of chromosome 2 syndrome
ORPHA:262698: Partial duplication of chromosome 2p
ORPHA:262698: Partial trisomy of chromosome 2p
ORPHA:262707: Partial duplication of the short arm of chromosome 3 syndrome
ORPHA:262707: Partial duplication of chromosome 3p
ORPHA:262707: Partial trisomy of chromosome 3p
ORPHA:262707: Partial trisomy of the short arm of chromosome 3
ORPHA:262716: Partial duplication of the short arm of chromosome 4 syndrome
ORPHA:262716: Partial duplication of chromosome 4p
ORPHA:262716: Partial trisomy of chromosome 4p
ORPHA:262716: Partial trisomy of the short arm of chromosome 4
ORPHA:262725: Partial duplication/triplication of the short arm of chromosome 5 syndrome
ORPHA:262725: Partial duplication/triplication of chromosome 5p
ORPHA:262725: Partial trisomy/tetrasomy of chromosome 5p
ORPHA:262725: Partial trisomy/tetrasomy of the short arm of chromosome 5
ORPHA:262740: Partial duplication of the short arm of chromosome 6 syndrome
ORPHA:262740: Partial duplication of chromosome 6p
ORPHA:262740: Partial trisomy of chromosome 6p
ORPHA:262740: Partial trisomy of the short arm of chromosome 6
ORPHA:262749: Partial duplication of the short arm of chromosome 7 syndrome
ORPHA:262749: Partial duplication of chromosome 7p
ORPHA:262749: Partial trisomy of chromosome 7p
ORPHA:262749: Partial trisomy of the short arm of chromosome 7
ORPHA:262758: Partial duplication of the short arm of chromosome 8 syndrome
ORPHA:262758: Partial duplication of chromosome 8p
ORPHA:262758: Partial trisomy of chromosome 8p
ORPHA:262758: Partial trisomy of the short arm of chromosome 8
ORPHA:262767: Partial duplication/triplication of the short arm of chromosome 9 syndrome
ORPHA:262767: Partial duplication of chromosome 9p
ORPHA:262767: Partial duplication of the short arm of chromosome 9
ORPHA:262767: Partial tetrasomy of chromosome 9p
ORPHA:262767: Partial triplication of chromosome 9p
ORPHA:262767: Partial trisomy of chromosome 9p
ORPHA:262767: Partial trisomy/tetrasomy of the short arm of chromosome 9
ORPHA:262776: Partial duplication of the short arm of chromosome 10 syndrome
ORPHA:262776: Partial duplication of chromosome 10p
ORPHA:262776: Partial trisomy of chromosome 10p
ORPHA:262776: Partial trisomy of the short arm of chromosome 10
ORPHA:262785: Partial duplication of the short arm of chromosome 11 syndrome
ORPHA:262785: Partial duplication of chromosome 11p
ORPHA:262785: Partial trisomy of chromosome 11p
ORPHA:262785: Partial trisomy of the short arm of chromosome 11
ORPHA:262794: Partial duplication of the short arm of chromosome 16 syndrome
ORPHA:262794: Partial duplication of chromosome 16p
ORPHA:262794: Partial trisomy of chromosome 16p
ORPHA:262794: Partial trisomy of the short arm of chromosome 16
ORPHA:262803: Partial duplication of the short arm of chromosome 17 syndrome
ORPHA:262803: Partial duplication of chromosome 17p
ORPHA:262803: Partial trisomy of chromosome 17p
ORPHA:262803: Partial trisomy of the short arm of chromosome 17
ORPHA:262812: Partial duplication/triplication of the short arm of chromosome 18 syndrome
ORPHA:262812: Partial duplication/triplication of chromosome 18p
ORPHA:262812: Partial trisomy/tetrasomy of chromosome 18p
ORPHA:262812: Partial trisomy/tetrasomy of the short arm of chromosome 18
ORPHA:262833: Partial duplication of the long arm of chromosome 1 syndrome
ORPHA:262833: Partial duplication of chromosome 1q
ORPHA:262833: Partial trisomy of chromosome 1q
ORPHA:262833: Partial trisomy of the long arm of chromosome 1
ORPHA:262842: Partial duplication of the long arm of chromosome 2 syndrome
ORPHA:262842: Partial duplication of chromosome 2q
ORPHA:262842: Partial trisomy of chromosome 2q
ORPHA:262842: Partial trisomy of the long arm of chromosome 2
ORPHA:262851: Partial duplication of the long arm of chromosome 3 syndrome
ORPHA:262851: Partial duplication of chromosome 3q
ORPHA:262851: Partial trisomy of chromosome 3q
ORPHA:262860: Partial duplication of the long arm of chromosome 4 syndrome
ORPHA:262860: Partial duplication of chromosome 4q
ORPHA:262860: Partial trisomy of chromosome 4q
ORPHA:262860: Partial trisomy of the long arm of chromosome 4
ORPHA:262869: Partial duplication of the long arm of chromosome 5 syndrome
ORPHA:262869: Partial duplication of chromosome 5q
ORPHA:262869: Partial trisomy of chromosome 5q
ORPHA:262869: Partial trisomy of the long arm of chromosome 5
ORPHA:262878: Partial duplication of the long arm of chromosome 6 syndrome
ORPHA:262878: Partial duplication of chromosome 6q
ORPHA:262878: Partial trisomy of chromosome 6q
ORPHA:262878: Partial trisomy of the long arm of chromosome 6
ORPHA:262887: Partial duplication of the long arm of chromosome 7 syndrome
ORPHA:262887: Partial duplication of chromosome 7q
ORPHA:262887: Partial trisomy of chromosome 7q
ORPHA:262887: Partial trisomy of the long arm of chromosome 7
ORPHA:262896: Partial duplication of the long arm of chromosome 8 syndrome
ORPHA:262896: Partial duplication of chromosome 8q
ORPHA:262896: Partial trisomy of chromosome 8q
ORPHA:262896: Partial trisomy of the long arm of chromosome 8
ORPHA:262905: Partial duplication of the long arm of chromosome 9 syndrome
ORPHA:262905: Partial duplication of chromosome 9q
ORPHA:262905: Partial trisomy of chromosome 9q
ORPHA:262905: Partial trisomy of the long arm of chromosome 9
ORPHA:262914: Partial duplication of the long arm of chromosome 10 syndrome
ORPHA:262914: Partial duplication of chromosome 10q
ORPHA:262914: Partial trisomy of chromosome 10q
ORPHA:262914: Partial trisomy of the long arm of chromosome 10
ORPHA:262923: Partial duplication of the long arm of chromosome 11 syndrome
ORPHA:262923: Partial duplication of chromosome 11q
ORPHA:262923: Partial trisomy of chromosome 11q
ORPHA:262923: Partial trisomy of the long arm of chromosome 11
ORPHA:262932: Partial duplication of the long arm of chromosome 13 syndrome
ORPHA:262932: Partial duplication of chromosome 13q
ORPHA:262932: Partial trisomy of chromosome 13q
ORPHA:262932: Partial trisomy of the long arm of chromosome 13
ORPHA:262941: Partial duplication of the long arm of chromosome 14 syndrome
ORPHA:262941: Partial duplication of chromosome 14q
ORPHA:262941: Partial trisomy of chromosome 14q
ORPHA:262941: Partial trisomy of the long arm of chromosome 14
ORPHA:262950: Partial duplication of the long arm of chromosome 15 syndrome
ORPHA:262950: Partial duplication of chromosome 15q
ORPHA:262950: Partial trisomy of chromosome 15q
ORPHA:262950: Partial trisomy of the long arm of chromosome 15
ORPHA:262959: Partial duplication of the long arm of chromosome 16 syndrome
ORPHA:262959: Partial duplication of chromosome 16q
ORPHA:262959: Partial trisomy of chromosome 16q
ORPHA:262959: Partial trisomy of the long arm of chromosome 16
ORPHA:262968: Partial duplication of the long arm of chromosome 17 syndrome
ORPHA:262968: Partial duplication of chromosome 17q
ORPHA:262968: Partial trisomy of chromosome 17q
ORPHA:262968: Partial trisomy of the long arm of chromosome 17
ORPHA:262977: Partial duplication of the long arm of chromosome 18 syndrome
ORPHA:262977: Partial duplication of chromosome 18q
ORPHA:262977: Partial trisomy of chromosome 18q
ORPHA:262977: Partial trisomy of the long arm of chromosome 18
ORPHA:262986: Partial duplication of the long arm of chromosome 19 syndrome
ORPHA:262986: Partial duplication of chromosome 19q
ORPHA:262986: Partial trisomy of chromosome 19q
ORPHA:262986: Partial trisomy of the long arm of chromosome 19
ORPHA:262995: Partial duplication of the long arm of chromosome 20 syndrome
ORPHA:262995: Partial duplication of chromosome 20q
ORPHA:262995: Partial trisomy of chromosome 20q
ORPHA:262995: Partial trisomy of the long arm of chromosome 20
ORPHA:263: Limb-girdle muscular dystrophy
ORPHA:263: LGMD
ORPHA:263004: Partial duplication of the long arm of chromosome 22 syndrome
ORPHA:263004: Partial duplication of chromosome 22q
ORPHA:263004: Partial trisomy of chromosome 22q
ORPHA:263004: Partial trisomy of the long arm of chromosome 22
ORPHA:2631: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
ORPHA:2631: Mesomelic dysplasia, Kozlowski-Reardon type
ORPHA:2631: Mesomelic dysplasia, Reardon type
ORPHA:2631: Reardon-Hall-Slaney syndrome
ORPHA:2632: Langer mesomelic dysplasia
ORPHA:2632: Mesomelic dwarfism, Langer type
ORPHA:263297: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
ORPHA:263297: GSD type 15
ORPHA:263297: GSD type XV
ORPHA:263297: GSD with severe cardiomyopathy due to glycogenin deficiency
ORPHA:263297: Glycogen storage disease type 15
ORPHA:263297: Glycogen storage disease type XV
ORPHA:263297: Glycogenosis type 15
ORPHA:263297: Glycogenosis type XV
ORPHA:263297: Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
ORPHA:2633: Mesomelic dysplasia, Nievergelt type
ORPHA:2633: Mesomelic dwarfism, Nievergelt type
ORPHA:2633: Nievergelt syndrome
ORPHA:263310: Thymoma type A
ORPHA:263310: Primary thymic epithelial neoplasm type A
ORPHA:263310: Primary thymic epithelial tumor type A
ORPHA:263317: Thymoma type B
ORPHA:263317: Primary thymic epithelial neoplasm type B
ORPHA:263317: Primary thymic epithelial tumor type B
ORPHA:263324: Thymoma type AB
ORPHA:263324: Primary thymic epithelial neoplasm type AB
ORPHA:263324: Primary thymic epithelial tumor type AB
ORPHA:263331: Well-differentiated thymic neuroendocrine carcinoma
ORPHA:263335: Moderately-differentiated thymic neuroendocrine carcinoma
ORPHA:263339: Poorly differentiated thymic neuroendocrine carcinoma
ORPHA:263347: MRCS syndrome
ORPHA:263347: Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
ORPHA:263352: Postcardiotomy right ventricular failure
ORPHA:2634: Mesomelic dwarfism, Reinhardt-Pfeiffer type
ORPHA:2634: Reinhardt-Pfeiffer mesomelic dysplasia
ORPHA:2634: Reinhardt-Pfeiffer syndrome
ORPHA:263410: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
ORPHA:263413: Angiosarcoma
ORPHA:263425: Nevus of Ota
ORPHA:263425: Nevus fusculoceruleus ophthalmomaxillaris
ORPHA:263432: Nevus of Ito
ORPHA:263432: Nevus fuscocaeruleus acromiodeltoideus
ORPHA:263435: Congenital smooth muscle hamartoma
ORPHA:263440: Neuroacanthocytosis
ORPHA:263455: Congenital hyperinsulinism due to HNF4A deficiency
ORPHA:263455: Hyperinsulinemic hypoglycemia due to HNF4A deficiency
ORPHA:263458: Hyperinsulinism due to INSR deficiency
ORPHA:263458: Hyperinsulinemic hypoglycemia due to INSR deficiency
ORPHA:263458: Hyperinsulinemic hypoglycemia due to insulin receptor deficiency
ORPHA:263463: CHST3-related skeletal dysplasia
ORPHA:263463: Chondrodysplasia with congenital joint dislocations, CHST3 type
ORPHA:263463: SDCD, CHST3 type
ORPHA:263463: Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
ORPHA:263479: Fuchs heterochromic iridocyclitis
ORPHA:263479: FHI
ORPHA:26348: Acquired prothrombin deficiency
ORPHA:26348: Acquired hypoprothrombinemia
ORPHA:263482: Spondyloepimetaphyseal dysplasia, Maroteaux type
ORPHA:263482: Pseudo-Morquio syndrome type 2
ORPHA:263482: Pseudo-Morquio type II syndrome
ORPHA:263482: SEMD, Maroteaux type
ORPHA:263482: SEMD-M
ORPHA:263487: COG5-CDG
ORPHA:263487: CDG syndrome type IIi
ORPHA:263487: CDG-IIi
ORPHA:263487: CDG2I
ORPHA:263487: Carbohydrate deficient glycoprotein syndrome type IIi
ORPHA:263487: Congenital disorder of glycosylation type 2i
ORPHA:263487: Congenital disorder of glycosylation type IIi
ORPHA:26349: Protein S acquired deficiency
ORPHA:263494: DPM3-CDG
ORPHA:263494: CDG syndrome type Io
ORPHA:263494: CDG-Io
ORPHA:263494: CDG1O
ORPHA:263494: Carbohydrate deficient glycoprotein syndrome type Io
ORPHA:263494: Congenital disorder of glycosylation type 1o
ORPHA:263494: Congenital disorder of glycosylation type Io
ORPHA:2635: Metatropic dysplasia
ORPHA:2635: Metatropic dwarfism
ORPHA:263501: COG4-CDG
ORPHA:263501: CDG syndrome type IIj
ORPHA:263501: CDG-IIj
ORPHA:263501: CDG2J
ORPHA:263501: Carbohydrate deficient glycoprotein syndrome type IIj
ORPHA:263501: Congenital disorder of glycosylation type 2j
ORPHA:263501: Congenital disorder of glycosylation type IIj
ORPHA:263508: COG1-CDG
ORPHA:263508: CDG syndrome type IIg
ORPHA:263508: CDG-IIg
ORPHA:263508: CDG2G
ORPHA:263508: Carbohydrate deficient glycoprotein syndrome type IIg
ORPHA:263508: Congenital disorder of glycosylation type 2g
ORPHA:263508: Congenital disorder of glycosylation type IIg
ORPHA:263516: Progressive myoclonic epilepsy type 3
ORPHA:263516: EPM3
ORPHA:263516: PME type 3
ORPHA:263516: Progressive myoclonic epilepsy due to KCTD7 deficiency
ORPHA:263516: Progressive myoclonus epilepsy type 3
ORPHA:263524: Acute necrotizing encephalopathy of childhood
ORPHA:263524: ANEC
ORPHA:263524: Isolated ANE
ORPHA:263524: Isolated acute necrotizing encephalopathy
ORPHA:263534: Acral peeling skin syndrome
ORPHA:263534: Acral PSS
ORPHA:263534: Localized PSS
ORPHA:263534: PSS 2
ORPHA:263534: Peeling skin syndrome 2
ORPHA:263543: Generalized peeling skin syndrome
ORPHA:263543: Generalized PSS
ORPHA:263543: Generalized deciduous skin
ORPHA:263548: Peeling skin syndrome type A
ORPHA:263548: Generalized peeling skin syndrome type A
ORPHA:263548: Non-inflammatory generalized peeling skin syndrome type A.
ORPHA:263548: Non-inflammatory peeling skin syndrome type A
ORPHA:263548: PSS type A
ORPHA:263553: Peeling skin syndrome type B
ORPHA:263553: Generalized peeling skin disease type B
ORPHA:263553: Generalized peeling skin syndrome type B
ORPHA:263553: Inflammatory peeling skin disease
ORPHA:263553: Inflammatory peeling skin syndrome
ORPHA:263553: PSS type B
ORPHA:263553: PSS1
ORPHA:263553: Peeling skin syndrome 1
ORPHA:2636: Microcephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636: MOPD types I and III
ORPHA:2636: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
ORPHA:2636: Primordial microcephalic dwarfism, Crachami type
ORPHA:2636: Taybi-Linder syndrome
ORPHA:263662: Familial multiple meningioma
ORPHA:263665: NK-cell enteropathy
ORPHA:2637: Microcephalic osteodysplastic primordial dwarfism type II
ORPHA:2637: MOPD type II
ORPHA:2637: Majewski osteodysplastic primordial dwarfism type II
ORPHA:263708: Complex chromosomal rearrangement syndrome
ORPHA:263714: X chromosome number anomaly syndrome
ORPHA:263717: X chromosome number anomaly with female phenotype syndrome
ORPHA:263720: X chromosome number anomaly with male phenotype syndrome
ORPHA:263723: Polysomy of X chromosome syndrome
ORPHA:263726: Partial deletion of chromosome X syndrome
ORPHA:263726: Partial monosomy of chromosome X
ORPHA:263731: Partial deletion of the short arm of the chromosome X syndrome
ORPHA:263731: Partial deletion of chromosome Xp
ORPHA:263731: Partial deletion of the short arm of chromosome X
ORPHA:263731: Partial monosomy of chromosome Xp
ORPHA:263731: Partial monosomy of the short arm of chromosome X
ORPHA:263746: Y chromosome number anomaly syndrome
ORPHA:263749: X and Y chromosomal anomaly syndrome
ORPHA:263756: Partial deletion of the long arm of chromosome X syndrome
ORPHA:263756: Partial deletion of chromosome Xq