遺伝病のカテゴリー

小慢疾病分類NO.

指定難病分類NO

疾患名

単一：単一遺伝子病
多因子：多因子遺伝
病

単一/多因子国際分類 ISDS (International Skeletal Dysplasia Society) Unger et al. Am J Med Genet 2023

グループ
番号

骨系統疾患1

骨・関節疾患 273 胸郭不全症候群／肋骨異常を伴う先天性側弯症

10

グループ名

疾患ID
(NOS)

10: Skeletal
10‐0010
disorderscaused byabnormalities of 10‐0020
cilia or ciliary
10‐0030
signaling:

Short rib–polydactyly syndrome (SRPS), DYNC2H1related

短肋骨多指症候群

Short rib–polydactyly syndrome (SRPS), IFT80-related

短肋骨多指症候群

Short rib–polydactyly syndrome (SRPS), IFT81-related

短肋骨多指症候群

Short rib–polydactyly syndrome (SRPS), WDR34-related 短肋骨多指症候群

10‐0050

Short rib–polydactyly syndrome (SRPS), WDR60-related 短肋骨多指症候群

10‐0070

Short rib–polydactyly syndrome (SRPS), DYNC2LI1related
Short rib–polydactyly syndrome (SRPS), NEK1-related

10‐0080

Short rib–polydactyly syndrome (SRPS), IFT122-related

10‐0090

Short rib–polydactyly syndrome (SRPS), WDR19-related 短肋骨多指症候群

10‐0100

Short rib-polydactyly syndrome (SRPS), INTU-related
Short rib-polydactyly syndrome (SRPS), TRAF3IP1related

10‐0110

短肋骨多指症候群
短肋骨多指症候群
短肋骨多指症候群

短肋骨多指症候群
短肋骨多指症候群10‐0120

Endocrine-cerebro-osteo dysplasia (ECO), CILK1-related なし

10‐0130

Short-rib thoracic dysplasia (formerly asphyxiating
呼吸不全性胸郭異形成症
thoracic dysplasia - Jeune syndrome), DYNC2H1-related

10‐0140

Short-rib thoracic dysplasia (formerly asphyxiating
呼吸不全性胸郭異形成症
thoracic dysplasia - Jeune syndrome), DYNC2LI1-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), WDR34-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), TCTEX1D2related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), WDR60-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), WDR19-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT140-related

呼吸不全性胸郭異形成症

Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), TTC21B-related

呼吸不全性胸郭異形成症

Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT122-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), WDR35-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT43-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT80-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT172-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT81-related
Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), IFT52-related

呼吸不全性胸郭異形成症

10‐0280

Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), CFAP410-related

呼吸不全性胸郭異形成症

10‐0290

Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), CEP120-related

呼吸不全性胸郭異形成症

10‐0300

Short-rib thoracic dysplasia (formerly asphyxiating
呼吸不全性胸郭異形成症
thoracic dysplasia - Jeune syndrome), KIAA0586-related

10‐0310

Short-rib thoracic dysplasia (formerly asphyxiating
thoracic dysplasia - Jeune syndrome), GRK2-related

10‐0320

Short-rib thoracic dysplasia (formerly asphyxiating
呼吸不全性胸郭異形成症
thoracic dysplasia - Jeune syndrome), TRAF3IP1-related

10‐0330

Short-rib thoracic dysplasia (formerly asphyxiating
呼吸不全性胸郭異形成症
thoracic dysplasia - Jeune syndrome), KIAA0753-related

10‐0340

Axial spondylometaphyseal dysplasia, CFAP410-related

10‐0350
36‐0100
36‐002036‐0030
36‐0040
36‐0050
36‐0060
36‐0070

Axial spondylometaphyseal dysplasia, NEK1-related
軸性脊椎骨幹端異形成症
Currarino syndrome, MNX1-related
Currarino 症候群
Spondylocostal dysostosis, DLL3-related
脊椎肋骨異骨症
Spondylocostal dysostosis, MESP2-related
脊椎肋骨異骨症
Spondylocostal dysostosis, LFNG-related
脊椎肋骨異骨症
Spondylocostal dysostosis, HES7-related
脊椎肋骨異骨症
Spondylocostal dysostosis, TBX6-related
脊椎肋骨異骨症
Spondylocostal dysostosis, RIPPLY2-related
脊椎肋骨異骨症
Vertebral segmentation defect (congenital scoliosis) with 種々の浸透度を有する分節性脊椎欠損症(先天性側弯症)variable penetrance, MESP2-related
Vertebral segmentation defect (congenital scoliosis) with 種々の浸透度を有する分節性脊椎欠損症(先天性側弯症)variable penetrance, HES7-related
Short stature, cervical segmentation defects, andなし
developmental delay, CDK10-related
Klippel-Feil syndrome, GDF6-related
Klippel-Feil 症候群
Klippel-Feil syndrome, MEOX1-related
Klippel-Feil 症候群
Klippel-Feil syndrome, GDF3-related
Klippel-Feil 症候群
Klippel-Feil syndrome, MYO18B-related
Klippel-Feil 症候群
Cervico-oculo-acoustic (Wildervanck) syndrome
なし
Cerebro-costo-mandibular syndrome (rib gap syndrome), 脳・肋骨・下顎症候群 (rib gap症候
SNRPB-related群)
脳・肋骨・下顎様症候群 (CDG IIg
Cerebro-costo-mandibular-like syndrome, COG1-related型)

10‐0150
10‐0160
10‐0170
10‐0180
10‐0190
10‐0200
10‐0210
10‐0220
10‐0230
10‐0240
10‐0250
10‐0260
10‐0270

36: Vertebral
and costal
dysostoses

出典：『骨系統疾患国際分類和訳
作業ワーキンググループの活動報
告』（2019）https://www.jsog.or.jp/news/pdf/s
husanki_20210226.pdf
骨系統疾患国際分類（2019)和訳

10‐0040

10‐0060

36

疾患名（英語）

和訳

36‐0080
36‐009036‐0100
36‐011036‐012036‐0130
36‐0140
36‐0150
36‐0160
36‐0170

呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症

呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症
呼吸不全性胸郭異形成症

呼吸不全性胸郭異形成症

軸性脊椎骨幹端異形成症

注釈遺伝病のカテゴリー

小慢疾病分類NO.

指定難病分類NO

疾患名

国際分類 ISDS (International Skeletal Dysplasia Society) Unger et al. Am J Med Genet 2023
36‐0180
36‐0190
36‐0200
36‐021036‐0220
36‐0230
36‐0240
36‐0250
36‐0260

単一

骨系統疾患2 骨・関節疾患

276 軟骨無形成症

1

単一

骨系統疾患3なし 軟骨低形成症

1

単一

骨系統疾患4 骨・関節疾患

275

単一

骨系統疾患5 骨・関節疾患

274 骨形成不全症

タナトフォリック骨異形成症

126

１型.非変形型〃

FGFR3chondrodysplasi 01‐0040
as
FGFR3
chondrodysplasi 01‐0050
as
FGFR3
01‐0010;chondrodysplasi
01‐0020as
Osteogenesis
imperfecta and 26‐0010
bone fragility
group
26‐0020２型.周産期致死型

26‐0030
26‐0040
26‐0050
26‐0060
26‐0070〃３型.変形進行型

26‐0080
26‐0090
26‐0100
26‐011026‐012026‐0130
26‐0140
26‐0150
26‐0160
26‐0170
26‐0180
26‐0190
26‐0200
26‐021026‐0220
26‐0230
26‐0240
26‐0250
26‐0260〃

４型.中等症型

26‐0270
26‐0280
26‐0290
26‐0300
26‐031026‐0320
26‐0330
26‐0340〃５型.骨間膜石灰化・過形成仮骨を伴う型〃

26‐0350

その他の型

26‐0360
26‐0370

単一

骨系統疾患6 骨・関節疾患

172 低ホスファターゼ症
１．周産期重症型
最も重症な病型〃
２．周産期軽症型
〃
３．乳児型
〃
４．小児型
〃
５．成人型

27-0010;27-0020
27

Disorders ofbonemineralisation

和訳

Diaphanospondylodysostosis, BMPER-related
Spondylo-megaepiphyseal-metaphyseal dysplasia(SMMD), NKX3-2-related
NAD deficiency syndrome, HAAO-related
NAD deficiency syndrome, KYNU-related
NAD deficiency syndrome, NADSYN1-related
VATER/VACTERL association
VACTERL association with hydrocephalus (VACTERLH), FANCB-related
VACTERL association with hydrocephalus (VACTERLH), ZIC3-related
Uniparental disomy, paternal, for chromosome 14(UPD14; Kagami-Ogata syndrome)

透明脊椎異骨症

Achondroplasia, FGFR3-related

軟骨無形成症

Hypochondroplasia, FGFR3-related

軟骨低形成症

1: Thanatophoric dysplasia (type 1), FGFR3-related;
2: Thanatophoric dysplasia (type 2), FGFR3-related

1: タナトフォリック骨異形成症1型、2: タナトフォリック骨異形成症2型

Osteogenesis imperfecta, non-deforming (Sillence type1), COL1A1-related
Osteogenesis imperfecta, non-deforming (Sillence type1), COL1A2-related

脊椎・巨大骨端・骨幹端異形成症
NAD欠損症候群
NAD欠損症候群
NAD欠損症候群なし
なし
なし
父性片親ダイソミー14

病名に骨形成不全症，永続的な青色強膜"Osteogenesi
を伴う非変形型
s imperfecta"
骨形成不全症，永続的な青色強膜 が含まれているもののみをを伴う非変形型
挙げた。

Osteogenesis imperfecta, severe perinatal form (Sillence
骨形成不全症，周産期重症型
type 2) COL1A1-related
Osteogenesis imperfecta, severe perinatal form (Sillence
骨形成不全症，周産期重症型
type 2), COL1A2-related
Osteogenesis imperfecta, severe perinatal form (Sillence
骨形成不全症，周産期重症型
type 2), CRTAP-related
Osteogenesis imperfecta, severe perinatal form (Sillence
骨形成不全症，周産期重症型
type 2), P3H1-related
Osteogenesis imperfecta, severe perinatal form (Sillence
骨形成不全症，周産期重症型
type 2), PPIB-related
Osteogenesis imperfecta, progressively deforming
骨形成不全症，進行性変形型(Sillence type 3), COL1A1-related
Osteogenesis imperfecta, progressively deforming
骨形成不全症，進行性変形型(Sillence type 3), COL1A2-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), IFITM5-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), SERPINF1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), CRTAP-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), P3H1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), PPIB-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), SERPINH1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), FKBP10-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), TMEM38B-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), BMP1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), WNT1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), CREB3L1-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), SPARC-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), TENT5A-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), MBTPS2-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), MESD-related
Osteogenesis imperfecta, progressively deforming(Sillence type 3) with neurodevelopmental features,
KDELR2--related
Osteogenesis imperfecta, progressively deforming(Sillence type 3), CCD134-related
Osteogenesis imperfecta, moderate form (Sillence type4), COL1A1-related
Osteogenesis imperfecta, moderate form (Sillence type4), COL1A2-related
Osteogenesis imperfecta, moderate form (Sillence type4), WNT1-related
Osteogenesis imperfecta, moderate form (Sillence type4), IFITM5-related
Osteogenesis imperfecta, moderate form (Sillence type4), CRTAP-related
Osteogenesis imperfecta, moderate form (Sillence type4), PPIB-related
Osteogenesis imperfecta, moderate form (Sillence type4), FKBP10-related
Osteogenesis imperfecta, moderate form (Sillence type4), SP7-related
Osteogenesis imperfecta with calcification ofinterosseous membranes and/or hypertrophic callus (OI
type 5), IFITM5- related
Osteogenesis imperfecta with craniosynostosis (ColeCarpenter syndrome), P4HB-related
Osteogenesis imperfecta with craniosynostosis (ColeCarpenter syndrome), SEC24D-related

骨形成不全症，進行性変形型

1: Hypophosphatasia, ALPL-related, recessive (biallelic)forms;

低ホスファターゼ症周産期重症型

2: Hypophosphatasia, ALPL-related, dominant(monoallelic) form

注釈

骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，進行性変形型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨形成不全症，中等症型
骨間膜の石灰化・過形成仮骨を伴う骨形成不全症
Cole-Carpenter骨異形成症(頭蓋骨癒合症を伴う骨脆弱症)
Cole-Carpenter骨異形成症(頭蓋骨癒合症を伴う骨脆弱症)

低ホスファターゼ症周産期軽症型
低ホスファターゼ症乳児型
低ホスファターゼ症小児型
低ホスファターゼ症成人型

27
遺伝病のカテゴリー

単一

小慢疾病分類NO.

指定難病分類NO

骨系統疾患7 代謝疾患

疾患名〃
６．歯限局型
大理石骨病
326
１．早発型

Disorders ofbonemineralisation

2: Hypophosphatasia, ALPL-related, dominant
国際分類 ISDS (International Skeletal Dysplasia
Society)(monoallelic)form Unger et al. Am J Med Genet 2023
24

Osteopetrosis
and related
osteoclast
disorders

24‐001024‐0020
24‐0030

３．中間型

24‐0060
24‐0070
24‐0080
24‐0090〃

２．遅発型

24‐0100

Osteopetrosis, late-onset, dominant form, CLCN7-related 大理石骨病, 遅発型2型

24‐0110Osteopetrosis with renal tubular acidosis, CA2-related〃 ４．腎尿細管性アシドーシスを伴う病型

24‐012024‐0130
24‐0140
24‐0150

単一

骨系統疾患9なし 多発性軟骨性外骨腫症

なし 内軟骨腫症

30

14, 15: Enchondromatosis, IDH1‐related (Ollier disease);
Disorganized
Enchondromatosis, IDH2‐related (Ollier disease)14, 15: 内軟骨腫症 (Ollier);
development of 30‐0140か
skeletalら.
30‐
16, 17：Enchondromatosis with hemangiomas, IDH1‐
16, 17：血管腫を伴う内軟骨腫症
components
0170
related (Maffucci disease); Enchondromatosis with
（Maffucci)）
group
hemangiomas, IDH2‐related ((Maffucci disease))
Type 2 collagen2‐0010disorders
2‐00202型コラーゲン異常症関連疾患

単一

骨系統疾患1123

X連鎖性潜性末節骨短縮型点状軟骨異形成症（CDPX1）

多発性軟骨性外骨腫症

2‐0080

SED with metatarsal shortening, COL2A1-related

中足骨短縮を伴う脊椎骨端形成症

2‐0090Stickler syndrome, COL2A1-related
Dysplasia of the proximal femoral epiphyses, COL2A1related

Stickler 症候群1型

CDP, X-linked recessive, ARSE-related(brachytelephalangic type; CDPX1)

点状軟骨異形成症, X 連鎖性潜性，末節骨短縮型 (CDPX1)

なし
Kniest 骨異形成症
脊椎末梢異形成症

大腿骨近位骨端異形成症〃 X染色体顕性
Conradi-Hünermann型点状軟骨異形成症（CDPX2）23‐0020

CDP, X-linked dominant, EBP-related (Conradi-Hü
nermann type; CDPX2)〃 CHILD症候群（先天性片側異形成、魚鱗癬、四肢欠損）

23‐0030

Congenital hemidysplasia, ichthyosis, limb defects(CHILD) syndrome, NSDHL-related

CHILD症候群 (先天性片側異形成,
魚鱗癬, 四肢欠損)〃

Keutel症候群

23‐0040

Keutel syndrome, MGP-relatedKeutel症候群〃
症

Greenberg骨異形成23‐0050

Greenberg dysplasia, LBR-related

Greenberg 骨異形成症

23‐0060
23‐0070
23‐0080
23‐0090
23‐0100

Rhizomelic CDP, PEX7-related
Rhizomelic CDP, DHPAT-related
Rhizomelic CDP, AGP5-related
Rhizomelic CDP, FAR1-related
Rhizomelic CDP, PEX5-related

近位肢型点状軟骨異形成症
近位肢型点状軟骨異形成症
近位肢型点状軟骨異形成症
近位肢型点状軟骨異形成症
近位肢型点状軟骨異形成症

23‐0110

CDP tibial-metacarpal type

点状軟骨異形成症, 脛骨・中手骨型

Pseudoachondroplasia, COMP-related

偽性軟骨無形性症

Larsen syndrome, FLNB-relatedLarsen症候群

Fibrodysplasia ossificans progressiva, ACVR1‐
related

進行性骨化性線維異形成症〃 近位肢型点状軟骨
異形成症〃 脛骨・中手骨型点状
軟骨異形成症

点状軟骨異形成症, X染色体顕性, 疾患名に”Conradi-Hünermann 型 (CDPX2) CDP”を含むもののみを挙げた。

ワルファリン胎芽症、SLE
胎芽症、ビタミンK欠乏症などの非遺伝性疾患に合併する症候性の点状軟骨異形成も存在する.

単一

骨系統疾患12なし 偽性軟骨無形性症

9

単一

骨系統疾患13なし ラーセン症候群

6

単一

骨系統疾患14 骨・関節疾患

272

進行性骨化性線維異形成症

単一

骨系統疾患15なし

TRPV4異常症
変容性骨異形成症

30

Pseudoachondr
oplasia and themultiple
9‐0010epiphyseal
dysplasias
Filamins andrelated6‐0090disordersDisorganizeddevelopment ofskeletal
30‐0080
components
group

変容性骨異形成症〃 脊椎骨端骨幹端異形成症Maroteaux型〃 脊椎骨幹端異形成症Kozlowski型〃 短体幹症〃 短指を伴う家族性指
関節症

8

TRPV4
disorders

8‐0010 か
ら.
8‐
0050

病名に
"Enchondrom
atosis"が含まれているもののみを挙げた。

Platyspondylic dysplasia, type Torrance, COL2A1-related 扁平椎異形成症, Torrance 型
先天性脊椎骨端異形成症

Chondrodysplasia punctata(CDP) group23‐0010

病名に"exostosis"が含まれているもののみを挙げた。

Achondrogenesis, COL2A1-related (formerly type 2, type
軟骨無発生症2型
Langer-Saldino)
Hypochondrogenesis, COL2A1-related
軟骨低発生症2‐00502‐00602‐00702‐0100点状軟骨異形成症（ペルなし
オキシゾーム病を除く）

1: Multiple cartilaginous exostoses, EXT1-related;
2:Multiple cartilaginous exostoses, EXT2-related

Spondyloepiphyseal dysplasia congenita (SEDC),COL2A1-related
Spondyloepimetaphyseal dysplasia, COL2A1-related
Kniest dysplasia, COL2A1-related
Spondyloperipheral dysplasia, COL2A1-related

2‐0040なし

腎細管性アシドーシスを伴う大理石
骨病
外胚葉異形成と免疫不全を伴う大理石骨病
なし
大理石骨病, 白血球接着不全を伴う中等症型
大理石骨病, 白血球接着不全を伴
う中等症型

30

2‐0030

骨系統疾患10Osteopetrosis with ectodermal dysplasia and immune
defect (OLEDAID), IKBKG-related
Osteopetrosis, moderate form, SLC4A2-related
Osteopetrosis, moderate form with defective leucocyte
adhesion, FERMT3-related
Osteopetrosis, moderate form with defective leucocyte
adhesion, RASGRP2-related

Disorganizeddevelopment of
30‐0010;skeletal
30‐0020components
group

2

単一

大理石骨病, 乳児型, 神経系の罹患を伴う
大理石骨病, 乳児型, 免疫グロブリ
ン欠乏を伴う破骨細胞減少型
大理石骨病, 中間型
大理石骨病, 中間型
大理石骨病, 中間型
大理石骨病, 中間型〃

24‐0050

骨系統疾患8

注釈

Osteopetrosis, neonatal or infantile form, TCIRG1-related 大理石骨病, 重症新生児型/乳児型 病名に"Osteopetrosi
Osteopetrosis, neonatal or infantile form, CLCN7-related 大理石骨病, 重症新生児型/乳児型 s"が含まれているもののみOsteopetrosis, neonatal or infantile form, SNX10-related 大理石骨病, 重症新生児型/乳児型 を挙げた。
Osteopetrosis, infantile form, with nervous system
involvement, OSTM1-related
Osteopetrosis, infantile form, osteoclast-poor withimmunoglobulin deficiency, TNFRSF11A-related
Osteopetrosis, intermediate form, TCIRG1-related
Osteopetrosis, intermediate form, TNFSF11-related
Osteopetrosis, intermediate form, PLEKHM-related
Osteopetrosis, intermediate form, CLCN7-related

24‐0040

単一

和訳
低ホスファターゼ症歯限局型

脊椎骨端骨幹端異形成症
Maroteaux型（偽性Morquio症候群２型）
脊椎骨幹端異形成症Kozlowski型
短体幹症（常染色体顕性型）
短指を伴う家族性指関節症※「Rhizomelic
CDP」は、Peroxisome病

遺伝病のカテゴリー
単一

小慢疾病分類NO.
骨系統疾患16

指定難病分類NO

疾患名なし 骨硬化性疾患

国際分類 ISDS (International Skeletal Dysplasia Society) Unger et al. Am J Med Genet 2023
24

25

24:
Osteopetrosis
and related
osteoclast
disorders

24‐0160
24‐0170
24‐0180
24‐0190
24‐0200

25‐001025:Osteoscleroti 25‐0020
c disorders
25‐0030
25‐0040
25‐0050
25‐0060
25‐0070
25‐0080
25‐0090
25‐0100
25‐011025‐012025‐0130
25‐0140
25‐0150
25‐0160
25‐0170
25‐0180
25‐0190
25‐0200
25‐021025‐0220
25‐0230
25‐0240
25‐0250
25‐0260
25‐0270
25‐0280
25‐0290
25‐0300
25‐031025‐0320
25‐0330
25‐0340
25‐0350
25‐0360
25‐0370
25‐0380
25‐0390
25‐0400

単一

骨系統疾患17

多因子
多因子
多因子
多因子
多因子

なし
なし
なし
なし
なし

多因子

なし

びまん性特発性骨増殖症
なし （DISH: Diffuse Idiopathic
Skeletal Hyperostosis）

多因子

なし

なし 乾癬性関節炎

多因子なし

なし 炎症性腸疾患関連関節炎

多因子

なし

なし SAPHO症候群

なし ビールズ症候群

骨・関節疾患
骨・関節疾患
骨・関節疾患
骨・関節疾患
骨・関節疾患68 黄色靱帯骨化症
69 後縦靱帯骨化症
70 広範脊柱管狭窄症
71 特発性大腿骨頭壊死症
271 強直性脊椎炎

31

Cerebellar hypoplasia-endosteal sclerosis, POLR3Brelated
Hematodiaphyseal dysplasia Ghosal, TBXAS1-related
Hypertrophic osteoarthropathy, HPGD-related
Hypertrophic osteoarthropathy, SLCO2A1-related
Oculodentoosseous dysplasia (ODOD), GJA1-related,dominant, mild type
Oculodentoosseous dysplasia (ODOD) GJA1-related,recessive, severe type
Osteoectasia with hyperphosphatasia (juvenile Paget
disease), OPG-related
Osteosclerosis, LRP5-related
Sclerosteosis, SOST-related
Sclerosteosis, LRP4-related

小脳低形成・骨内膜性硬化症

Lenz-Majewski hyperostotic dysplasia, PTDSS1-relatedLenz-Majewski 骨増殖異形成症

Osteochondrodysplasia with hypertrichosis (Cantu
syndrome), ABCC9-related
Familial Paget disease of bone, SQSTM1-related
Inclusion body myopathy, Paget disease of bone andfrontotemporal dementia
Endosteal hyperostosis, oligodontia, short stature, facial
dysmorphism and intellectual disability, POLR3GLrelatedなし

血液骨幹異形成症 Ghosal
過形成型骨関節症
過形成型骨関節症
眼歯骨異形成症 (ODOD) 軽症型
眼歯骨異形成症 (ODOD) 重症型

高ホスファターゼ症を伴う骨肥大症(若年性Paget 病)
骨硬化症
硬化性骨症
硬化性骨症
骨内膜性骨増殖症, van Buchem
Endosteal hyperostosis, van Buchem type, SOST-related型
Endosteal hyperostosis, Worth type
骨内膜性骨増殖症, Worth型
Craniodiaphyseal dysplasia, SOST-related
頭蓋骨幹異形成症
Craniodiaphyseal dysplasia, SP7-related
頭蓋骨幹異形成症
Trichodentoosseous dysplasia, DLX3-related
毛髪歯骨異形成症
Diaphyseal medullary stenosis with malignant fibrous
悪性線維性組織球腫を伴う骨幹部
骨髄腔狭窄症histiocytoma, MTAP-related
Craniotubular dysplasia, TMEM53-relatedなし
頭蓋骨幹端骨幹異形成症, Worm
Craniometadiaphyseal dysplasia, Wormian bone type
骨型

25‐0410

Metaphyseal dysplasia, Braun-Tinschert type25‐0420

Trichothiodystrophy with axial osteosclerosis

Overgrowth (tallstature)syndromes and 31‐0020
segmental
overgrowth

和訳

Osteosclerotic metaphyseal dysplasia, LRKK1-related
骨硬化性骨幹端異形成症
Pyknodysostosis, CTSK-related
濃化異骨症
Dysosteosclerosis, SLC29A3-related
異骨性骨硬化症
Dysosteosclerosis, TNFRSF11A-related
異骨性骨硬化症
Dysosteosclerosis with degenerative encephalopathy andなし
brain malformation, CSF1R-related
Desmosterolosis, DHCR4-related
デスモステロール症
Raine dysplasia, FAM20C-related
Raine 骨異形成症
Caffey disease, COL1A1-relatedCaffey 病 (乳児型・寛解型)
Caffey dysplasia (severe variants with prenatal onset)
Caffey 病 (出生前発症の重症型)
異形成性皮質骨増殖症，
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Kozlowski-Tsuruta型
異形成性皮質骨増殖症，Al-Gazali
Dysplastic cortical hyperostosis, Al-Gazali type型
Osteopoikilosis, LEMD3-related
骨斑紋症
Melorheostosis with osteopoikilosis, LEMD3-related
骨斑紋症を伴う流蝋骨症
Melorheostosis, MAP2K1-related
流蝋骨症 (メロレオストーシス)
Osteopathia striata with cranial sclerosis (OSCS),
頭蓋骨硬化を伴う骨線条症
AMER1-related
Pyle disease, SFRP4-related
Pyle 病Craniometaphyseal dysplasia, ANKH-related
頭蓋骨幹端異形成症
Craniometaphyseal dysplasia, GJA1-related
頭蓋骨幹端異形成症
Diaphyseal dysplasia Camurati-Engelmann, TGFB1骨幹異形成症 CamuratirelatedEngelmann 病
Hyperostosis-Hyperphosphatemia syndrome, GALNT3骨増殖症・高リン血症症候群
relatedHyperostosis-Hyperphosphatemia syndrome, FGF23骨増殖症・高リン血症症候群
relatedHyperostosis-Hyperphosphatemia syndrome, KL骨増殖症・高リン血症症候群
relathed

Congenital contractural arachnodactyly (Beals-Hecht
syndrome), FBN2-related

なし
なし
なし
骨幹端異形成症, Braun-Tinschert型A
中央骨硬化症を伴う中間肢硫黄欠
乏性毛髪発育異常

先天性拘縮性くも状指症

注釈