1	球脊髄性筋萎縮症;	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;Kennedy disease;
2	筋萎縮性側索硬化症;	Amyotrophic lateral sclerosis;
3	脊髄性筋萎縮症;	Spinal muscular atrophy;Myelopathic muscular atrophy;
3-1	脊髄性筋萎縮症I型;	Spinal muscular atrophy type I;SMA I;Werdnig-Hoffman disease;
3-2	脊髄性筋萎縮症II型;	Spinal muscular atrophy type II;SMA II;Dubowitz disease;
3-3	脊髄性筋萎縮症III型;	Spinal muscular atrophy type III;SMA III;Kugelberg-Welander disease;
3-4	脊髄性筋萎縮症IV型;	Spinal muscular atrophy type IV;SMA IV;
4	原発性側索硬化症;	Primary lateral sclerosis;
5	進行性核上性麻痺;	Progressive supranuclear palsy;
6	パーキンソン病;	Parkinson disease;
7	大脳皮質基底核変性症;	Corticobasal degeneration;Corticobasal syndrome;
8	ハンチントン病;	Huntington disease;Huntington chorea;
9	神経有棘赤血球症;	Neuroacanthocytosis;
9-1	有棘赤血球舞踏病;	Choreoacanthocytosis;Chorea-acanthocytosis;Levine-Critchley syndrome;
9-2	Mcleod症候群;	McLeod syndrome;
10	シャルコー・マリー・トゥース病;	Charcot-Marie-Tooth disease;
11	重症筋無力症;	Myasthenia gravis;
12	先天性筋無力症候群;	Congenital myasthenic syndrome;
12-1	終板アセチルコリン受容体欠損症;	End-plate acetylcholine receptor deficiency;
12-2	スローチャンネル症候群;	Slow-channel congenital myasthenic syndrome;
12-3	ファーストチャンネル症候群;	Fast-channel congenital myasthenic syndrome;
12-4	ナトリウムチャンネル筋無力症;	Sodium channel myasthenia;
12-5	終板アセチルコリンエステラーゼ欠損症;	End-plate acetylcholine esterase deficiency;
12-6	発作性無呼吸を伴う先天性筋無力症;	Congenital myasthenic syndrome with episodic apnoea;
13	多発性硬化症／視神経脊髄炎;	Multiple sclerosis;Neuromyelitis optica;
13-1	多発性硬化症;	Multiple sclerosis;
13-2	視神経脊髄炎;	Neuromyelitis optica;
13-3	デビック病;	Devic disease;
13-4	Balo病（バロー同心円硬化症）;	Balo concentric sclerosis;Baló concentric sclerosis;
14	慢性炎症性脱髄性多発神経炎／多巣性運動ニューロパチー;	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
14-1	慢性炎症性脱髄性多発神経炎;	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;
14-2	多巣性運動ニューロパチー;	Multifocal motor neuropathy;
15	封入体筋炎;	Inclusion body myositis;
16	クロウ・深瀬症候群;	Crow-Fukase syndrome;POEMS syndrome;
16-1	POEMS症候群;	Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;
16-2	高月病;	Takatsuki disease;
16-3	PEP症候群;	PEP syndrome;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;
17	多系統萎縮症;	Multiple system atrophy;
17-1	オリーブ橋小脳萎縮症;	Olivopontocerebellar atrophy;
17-2	線条体黒質変性症;	Striatonigral degeneration;
17-3	シャイ・ドレーガー症候群;	Shy-Drager syndrome;
18	脊髄小脳変性症（多系統萎縮症を除く。）;	Spinocerebellar degeneration;
19	ライソゾーム病;	Lysosomal storage disease;Lysosomal disease;
19-1	ゴーシェ病;	Gaucher disease;
19-2	ニーマン・ピック病;	Niemann-Pick disease;
19-3	ニーマン・ピック病C型;	Niemann-Pick disease type C;Niemann-Pick disease, type C;Niemann-Pick type C;
19-4	GM1ガングリオシドーシス;	GM1-gangliosidosis;GM1-gangliosidoses;
19-5	GM2ガングリオシドーシス（テイ・サックス病、サンドホフ病）;	GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;
19-6	クラッベ病;	Krabbe disease;
19-7	異染性白質ジストロフィー;	Metachromatic leukodystrophy;
19-8	マルチプルサルタファーゼ欠損症;	Multiple-sulfatase deficiency;
19-9	ファーバー病;	Farber disease;
19-10	ムコ多糖症I型（ハーラー／シェイエ症候群）;	Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;
19-11	ムコ多糖症II型（ハンター症候群）;	Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;
19-12	ムコ多糖症III型（サンフィリポ症候群）;	Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;
19-13	ムコ多糖症IV型（モルキオ症候群）;	Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;
19-14	ムコ多糖症VI型（マロトー・ラミー病）;	Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;
19-15	ムコ多糖症VII型（スライ病）;	Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;
19-16	ムコ多糖症IX型（ヒアルロニダーゼ欠損症）;	Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;
19-17	シアリドーシス;	Sialidosis;
19-18	ガラクトシアリドーシス;	Galactosialidosis;
19-19	ムコリピドーシスII型、III型;	Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;
19-20	α-マンノシドーシス;	Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;
19-21	β-マンノシドーシス;	Beta-Mannosidosis;Beta-Mannosidase Deficiency;
19-22	フコシドージス;	Fucosidosis;
19-23	アスパルチルグルコサミン尿症;	Aspartylglucosaminuria;
19-24	シンドラー／神崎病;	Schindler disease;Kanzaki disease;
19-25	ポンペ病;	Pompe disease;
19-26	酸性リパーゼ欠損症;	Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;
19-27	ダノン病;	Danon disease;
19-28	遊離シアル酸蓄積症;	Free sialic acid storage disease;Salla disease;
19-29	セロイドリポフスチノ－シス;	Ceroid lipofuscinosis;
19-30	ファブリー病;	Fabry disease;
19-31	シスチン症（シスチノーシス）;	Cystinosis;
20	副腎白質ジストロフィー;	Adrenoleukodystrophy;
20-1	副腎脊髄ニューロパチー;	Adrenomyeloneuropathy;
21	ミトコンドリア病;	Mitochondrial disease;
22	もやもや病;	Moyamoya disease;Occlusive disease in circle of Willis;
23	プリオン病;	Prion disease;
23-1	クロイツフェルト・ヤコブ病;	Creutzfeldt-Jakob disease;
23-2	ゲルストマン・ストロイスラー・シャインカー病;	Gerstmann-Straussler-Scheinker syndrome;
23-3	致死性家族性不眠症;	Fatal familial insomnia;
23-4	クールー病;	Kuru disease;
24	亜急性硬化性全脳炎;	Subacute sclerosing panencephalitis;
25	進行性多巣性白質脳症;	Progressive multifocal leukoencephalopathy;Leukoencephalopathy, progressive multifocal;
26	HTLV-1関連脊髄症;	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;
27	特発性基底核石灰化症;	Idiopathic basal ganglia calcification;Idiopathic basal ganglia calcification disease;
27-1	ファール病;	Fahr disease;
27-2	家族性特発性基底核石灰化症;	Familial idiopathic basal ganglia calcification;FIBGC;
27-3	原発性家族性脳石灰化;	Primary familial brain calcification;PFBC;
28	全身性アミロイドーシス;	Systemic amyloidosis;AL amyloidosis;
28-1	免疫グロブリン性アミロイドーシス;	Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;
28-2	家族性アミロイドポリニューロパチー;	Familial amyloid polyneuropathy;
28-3	老人性全身性アミロイドーシス;	Senile systemic amylodosis;
29	ウルリッヒ病;	Ullrich disease;Ullrich congenital muscular dystrophy;Collagen VI-related myopathy;
30	遠位型ミオパチー;	Distal myopathy;Distal muscular dystrophy;
30-1	三好型ミオパチー;	Miyoshi myopathy;
30-2	縁取り空胞を伴う遠位型ミオパチー;	Distal myopathy with rimmed vacuoles;
30-3	眼咽頭遠位型ミオパチー;	Oculopharyngodistal myopathy;
31	ベスレムミオパチー;	Bethlem myopathy;Beth Rem myopathy;
32	自己貪食空胞性ミオパチー;	Autophagic vacuolar myopathy;
32-1	Danon病;	Danon disease;
32-2	過剰自己貪食を伴うＸ連鎖性ミオパチー;	X-linked myopathy with excessive autophagy;XMEA;
33	シュワルツ・ヤンペル症候群;	Schwartz-Jampel syndrome;Schwarz-Yanperu syndrome;Myotonic chondrodystrophy;Cartilage dystrophic myotonia;
33-1	Stuve-Wiedemann症候群;	Stuve-Wiedemann syndrome;Stüve-Wiedemann syndrome;
34	神経線維腫症;	Neurofibromatosis;
34-1	レックリングハウゼン病;	von Recklinghausen disease;
35	天疱瘡;	Pemphigus;
36	表皮水疱症;	Epidermolysis bullosa;
36-1	キンドラー症候群;	Kindler syndrome;
37	膿疱性乾癬（汎発型）;	Generalised pustular psoriasis;Pustular psoriasis;
37-1	急性汎発性膿疱性乾癬（von Zumbusch型）;	Acute generalised pustular psoriasis, von Zumbusch type;
37-2	疱疹性膿痂疹;	Herpetic impetigo;
38	スティーヴンス・ジョンソン症候群;	Stevens-Johnson syndrome;Mucocutaneous ocular syndrome;
39	中毒性表皮壊死症;	Toxic epidermal necrolysis;Toxic epidermal necrosis;
40	高安動脈炎;	Takayasu arteritis;Aortitis syndrome;Pulseless disease;
41	巨細胞性動脈炎;	Giant cell arteritis;Temporal arteritis;
42	結節性多発動脈炎;	Polyarteritis nodosa;
43	顕微鏡的多発血管炎;	Microscopic polyangiitis;
44	多発血管炎性肉芽腫症;	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	好酸球性多発血管炎性肉芽腫症;	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;Churg-Strauss syndrome;
46	悪性関節リウマチ;	Malignant rheumatoid arthritis;Rheumatoid arthritis;Rheumatoid arthritis with vasculitis;
47	バージャー病;	Buerger disease;Thromboangiitis obliterans;
48	原発性抗リン脂質抗体症候群;	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;
49	全身性エリテマトーデス;	Systemic lupus erythematosus;
50	皮膚筋炎／多発性筋炎;	Dermatomyositis;Polymyositis;
50-1	皮膚筋炎;	Dermatomyositis;
50-2	多発性筋炎;	Polymyositis;
51	全身性強皮症;	Systemic scleroderma;Systemic sclerosis;
52	混合性結合組織病;	Mixed connective tissue disease;
53	シェーグレン症候群;	Sjogren syndrome;Sjögren syndrome;
54	成人スチル病;	Adult still disease;Adult-onset Stills disease;
55	再発性多発軟骨炎;	Relapsing polychondritis;
56	ベーチェット病;	Behcet disease;Behçet disease;
57	特発性拡張型心筋症;	Idiopathic dilated cardiomyopathy;
58	肥大型心筋症;	Hypertrophic cardiomyopathy;
59	拘束型心筋症;	Restricted cardiomyopathy;Restrictive cardiomyopathy;Constrictive cardiomyopathy;
60	再生不良性貧血;	Aplastic anemia;
61	自己免疫性溶血性貧血;	Autoimmune hemolytic anemia;AIHA;
61-1	寒冷凝集素症;	Cold agglutinin disease;
61-2	発作性寒冷ヘモグロビン尿症;	Paroxysmal cold hemoglobinuria;
62	発作性夜間ヘモグロビン尿症;	Paroxysmal nocturnal hemoglobinuria;
63	特発性血小板減少性紫斑病;	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	血栓性血小板減少性紫斑病;	Thrombotic thrombocytopenic purpura;
64-1	アップショー・シュールマン症候群;	Upshaw-Schulman syndrome;
65	原発性免疫不全症候群;	Primary immunodeficiency;
65-1	X連鎖重症複合免疫不全症;	X-linked severe combined immunodeficiency;X-SCID;
65-2	細網異形成症;	Reticular dysgenesis;
65-3	アデノシンデアミナーゼ欠損症;	Adenosine deaminase deficiency;
65-4	オーメン症候群;	Omenn syndrome;
65-5	プリンヌクレオシドホスホリラーゼ欠損症;	Purine nucleoside phosphorylase deficiency;
65-6	CD8欠損症;	CD8 deficiency;
65-7	ZAP-70欠損症;	ZAP-70 deficiency;
65-8	MHCクラスI欠損症;	MHC class I deficiency;
65-9	MHCクラスII欠損症;	MHC class II deficiency;
65-10	複合免疫不全症;	Combined immunodeficiency;
65-11	ウィスコット・オルドリッチ症候群;	Wiskott-Aldrich syndrome;
65-12	毛細血管拡張性運動失調症;	Telangiectasia ataxia;
65-13	ナイミーヘン染色体不安定症候群;	Nijmegen breakage syndrome;
65-14	ブルーム症候群;	Bloom syndrome;
65-15	ICF症候群;	Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;
65-16	PMS2異常症;	PMS2 deficiency;
65-17	RIDDLE症候群;	Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;
65-18	シムケ症候群;	Schimke syndrome;
65-19	ネザートン症候群;	Netherton syndrome;
65-20	胸腺低形成症候群;	Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;
65-21	高IgE症候群;	Hyper-IgE syndrome;
65-22	肝中心静脈閉鎖症を伴う免疫不全症;	Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;
65-23	先天性角化不全症;	Dyskeratosis congenita;
65-24	X連鎖無ガンマグロブリン血症;	X-linked agammaglobulinaemia;
65-25	分類不能型免疫不全症;	Common variable immunodeficiency;
65-26	高IgM症候群;	Hyper-IgM syndrome;
65-27	IgGサブクラス欠損症;	Isolated IgG subclass deficiency;
65-28	選択的IgA欠損症;	Selective IgA deficiency;
65-29	特異抗体産生不全症;	Specific antibody production deficiency;
65-30	乳児一過性低ガンマグロブリン血症;	Infant transient hypogammaglobulinemia;
65-31	チェディアック・東症候群;	Chédiak-Higashi syndrome;Chediak-Higashi syndrome;
65-32	X連鎖リンパ増殖症候群;	X-linked lymphoproliferative syndrome;
65-33	SAP欠損症;	SAP deficiency;SH2D1A/SLAM-associated protein deficiency;
65-34	XIAP欠損症;	XIAP deficiency;X-linked inhibitor of apoptosis deficiency;
65-35	自己免疫性リンパ増殖症候群;	Autoimmune lymphoproliferative syndrome;ALPS;
65-36	家族性血球貪食症候群;	Familial hemophagocytic syndrome;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;
65-37	カンジダ感染と外胚葉形成異常を伴う自己免疫性多腺性内分泌不全症;	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;
65-38	IPEX症候群;	Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;
65-39	CD25欠損症;	CD25 deficiency;
65-40	ITCH欠損症;	ITCH deficiency;
65-41	原発性食細胞機能不全症及び欠損症;	Primary phagocytic dysfunction;
65-42	重症先天性好中球減少症;	Severe congenital neutropenia;
65-43	周期性好中球減少症;	Cyclic neutropenia;
65-44	ヘルマンスキー・パドラック症候群2型;	Hermanskyi-Pudlak syndrome type 2;Hermanskyi-Pudlak syndrome 2;
65-45	Griscelli症候群2型;	Griscelli syndrome type 2;Griscelli syndrome 2;
65-46	p14欠損症;	p14 deficiency;
65-47	WHIM症候群;	Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;
65-48	糖原病Ib型;	Glycogen storage disease type Ib;
65-49	白血球接着不全症;	Leukocyte adhesion deficiency;
65-50	シュワッハマン・ダイアモンド症候群;	Shwachman-Diamond syndrome;
65-51	慢性肉芽腫症;	Chronic granulomatous disease;
65-52	ミエロペルオキシダーゼ欠損症;	Myeloperoxidase deficiency;
65-53	メンデル遺伝型マイコバクテリア易感染症;	Mendelian susceptibility to mycobacterial disease;MSMD;
65-54	免疫不全を伴う無汗性外胚葉形成異常症;	Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;
65-55	IRAK4欠損症;	Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;
65-56	IMyD88欠損症;	IMyD88 deficiency;
65-57	慢性皮膚粘膜カンジダ症;	Chronic mucocutaneous candidiasis;
65-58	疣贅様表皮発育異常症;	Epidermodysplasia verruciformis;
65-59	単純ヘルペス脳炎;	Herpes simplex encephalitis;
65-60	CARD9欠損症;	Caspase recruitment domain family member 9 deficiency;CARD9 deficiency;
65-61	トリパノソーマ症;	Trypanosomiasis;
65-62	先天性補体欠損症;	Congenital complement deficiency;
65-63	C1q欠損症;	C1q deficiency;
65-64	CC1r欠損症;	CC1r deficiency;
65-65	CC1s欠損症;	CC1s deficiency;
65-66	CC2欠損症;	CC2 deficiency;
65-67	CC3欠損症;	CC3 deficiency;
65-68	CC4欠損症;	CC4 deficiency;
65-69	CC5欠損症;	CC5 deficiency;
65-70	CC6欠損症;	CC6 deficiency;
65-71	CC7欠損症;	CC7 deficiency;
65-72	CC8欠損症;	CC8 deficiency;
65-73	CC9欠損症;	CC9 deficiency;
65-74	Factor D欠損症;	Factor D deficiency;
65-75	Properdin欠損症;	Properdin deficiency;
65-76	Factor I欠損症;	Factor I deficiency;
65-77	Factor H欠損症;	Factor H deficiency;
65-78	MASP1欠損症;	MASP1 deficiency;
65-79	3MC症候群;	3MC syndrome;
65-80	MASP2欠損症;	Mannose-binding protein-associated serine protease 2 deficiency;MASP2 deficiency;
65-81	Ficolin3関連免疫不全症;	Immunodeficiency associated with FCN3 mutation;FCN3;
65-82	遺伝性血管性浮腫 (C1インヒビター欠損症）1型;	Hereditary angioedema type 1;Hereditary angioedema type I;C1 inhibitor deficiency type 1;C1 inhibitor deficiency type I;
65-83	遺伝性血管性浮腫 (C1インヒビター欠損症）2型;	Hereditary angioedema type 2;Hereditary angioedema type II;C1 inhibitor deficiency type 2;C1 inhibitor deficiency type II;
65-84	遺伝性血管性浮腫 (C1インヒビター欠損症）3型;	Hereditary angioedema type 3;Hereditary angioedema type III;C1 inhibitor deficiency type 3;C1 inhibitor deficiency type III;
66	IgA腎症;	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	多発性嚢胞腎;	Polycystic kidney;
68	黄色靱帯骨化症;	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;
69	後縦靱帯骨化症;	Ossification of posterior longitudinal ligament;
70	広範脊柱管狭窄症;	Spinal stenosis;Extensive spinal canal stenosis;
71	特発性大腿骨頭壊死症;	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
72	下垂体性ADH分泌異常症;	Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;
72-1	中枢性尿崩症;	Central diabetes insipidus;
72-2	バゾプレシン分泌過剰症;	Syndrome of inappropriate secretion of ADH;SIADH;
73	下垂体性TSH分泌亢進症;	TSH-secreting pituitary adenoma;Pituitary TSH secretion hyperthyroidism;
74	下垂体性PRL分泌亢進症;	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	クッシング病;	Cushing disease;Cushing;
76	下垂体性ゴナドトロピン分泌亢進症;	Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;
76-1	中枢性思春期早発症;	Central precocious puberty;
76-2	下垂体ゴナドトロピン産生腫瘍;	Gonadotropin producing pituitary adenoma;
77	下垂体性成長ホルモン分泌亢進症;	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
78	下垂体前葉機能低下症;	Hypopituitarism;Anterior pituitary hypothyroidism;
78-1	ゴナドトロピン分泌低下症;	Syndrome of abnormal secretion of gonadotropin;Hyposecretion of gonadotropins;
78-2	副腎皮質刺激ホルモン（ACTH）分泌低下症;	Adrenocorticotropic hormone deficiency;ACTH deficiency;
78-3	甲状腺刺激ホルモン（TSH）分泌低下症;	Thyroid-stimulating hormone deficiency;TSH deficiency;
78-4	成長ホルモン（GH）分泌不全症;	Growth hormone deficiency;GH deficiency;
78-5	プロラクチン（PRL）分泌低下症;	Prolactin deficiency;PRL deficiency;
79	家族性高コレステロール血症（ホモ接合体）;	Homozygous familial hypercholesterolemia;
80	甲状腺ホルモン不応症;	Resistance to thyroid hormone;Syndrome of resistance to thyroid hormone;Thyroid hormone insensitivity syndrome;Refetoff syndrome;
81	先天性副腎皮質酵素欠損症;	Congenital adrenal hyperplasia;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
81-1	先天性リポイド過形成症;	Congenital Lipoid Adrenal Hyperplasia;
81-2	3β−水酸化ステロイド脱水素酵素（３β-HSD）欠損症;	3β-Hydroxysteroid Dehydrogenase Deficiency;
81-3	21-水酸化酵素欠損症;	21-Hydroxylase deficiency;
81-4	11β-水酸化酵素欠損症;	11β-Hydroxylase deficiency;
81-5	17α−水酸化酵素欠損症;	17α-Hydroxylase deficiency;
81-6	アルドステロン合成酵素欠損症;	Aldosterone synthase deficiency;
81-7	P450オキシドレダクターゼ(POR)欠損症;	P450 oxidoreductase deficiency;
82	先天性副腎低形成症;	Congenital adrenal hypoplasia;
82-1	DAX-1異常症（X連鎖性）;	X-linked congenital adrenal hypoplasia;DAX-1 deficiency;
82-2	SF-1/Ad4BP異常症（常染色体性）;	Congenital adrenal hypoplasia, autosomal recessive form;Steroidogenic factor-1 deficiency;SF-1 deficiency;SF-1/Ad4BP deficiency;
82-3	IMAge症候群（原因不明）;	IMAGe syndrome;
83	アジソン病;	Addison disease;Primary chronic adrenocortical insufficiency;
83-1	多腺性自己免疫症候群;	Autoimmune polyglandular syndrome;
83-2	HAM症候群;	Hypoparathyroidism-Addison-Monilia syndrome;HAM syndrome;
83-3	シュミット症候群;	Schmidt syndrome;
84	サルコイドーシス;	Sarcoidosis;
85	特発性間質性肺炎;	Idiopathic interstitial pneumonia;
85-1	特発性肺線維症;	Idiopathic pulmonary fibrosis;
85-2	通常型間質性肺炎;	Usual interstitial pneumonia;
85-3	非特異性間質性肺炎;	Non-specific interstitial pneumonia;NSIP;
85-4	特発性器質化肺炎;	Cryptogenic organizing pneumonia;
85-5	器質化肺炎;	Organizing pneumonia;
85-6	剥離性間質性肺炎;	Desquamative interstitial pneumonia;
85-7	呼吸細気管支炎関連間質性肺炎;	Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;
85-8	リンパ球性間質性肺炎;	Lymphocytic interstitial pneumonia;
85-9	急性間質性肺炎;	Acute interstitial pneumonia;
85-10	びまん性肺胞傷害;	Diffuse alveolar damage;
86	肺動脈性肺高血圧症;	Pulmonary arterial hypertension;
86-1	アイゼンメンジャー症候群;	Eisenmenger Syndrome;
87	肺静脈閉塞症／肺毛細血管腫症;	Pulmonary veno-occlusive disease;Pulmonary capillary hemangiomatosis;
87-1	肺静脈閉塞症;	Pulmonary veno-occlusive disease;PVOD;
87-2	肺毛細血管腫症;	Pulmonary capillary hemangiomatosis;
88	慢性血栓塞栓性肺高血圧症;	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	リンパ脈管筋腫症;	Lymphangioleiomyomatosis;
90	網膜色素変性症;	Retinitis pigmentosa;
90-1	杆体ジストロフィ;	Rod dystrophy;
90-2	杆体錐体ジストロフィ;	Cone-rod dystrophy;Rod-Cone Dystrophy;
91	バッド・キアリ症候群;	Budd-Chiari syndrome;
92	特発性門脈圧亢進症;	Idiopathic portal hypertension;Banti syndrome;
93	原発性胆汁性胆管炎;	Primary biliary cholangitis;Primary biliary cirrhosis;
94	原発性硬化性胆管炎;	Primary sclerosing cholangitis;
95	自己免疫性肝炎;	Autoimmune hepatitis;
96	クローン病;	Crohn disease;Terminal ileitis;
97	潰瘍性大腸炎;	Ulcerative colitis;
98	好酸球性消化管疾患;	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
98-1	新生児乳児食物蛋白誘発胃腸炎;	Neonatal food-protein induced enterocolitis;Neonatal Food-protein induced enterocolitis syndrome;N-FPIES;
98-2	好酸球性食道炎;	Eosinophilic esophagitis;
98-3	好酸球性胃腸炎;	Eosinophilic gastroenteritis;
99	慢性特発性偽性腸閉塞症;	Chronic intestinal pseudo-obstruction;Chronic idiopathic pseudo-bowel obstruction;
100	巨大膀胱短小結腸腸管蠕動不全症;	Megacystis microcolon intestinal hypoperistalsis syndrome;Huge bladder short and small colon intestinal peristalsis deficiency;
101	腸管神経節細胞僅少症;	Congenital isolated hypoganglionosis;Intestinal ganglion cells insignificant disease;
102	ルビンシュタイン・テイビ症候群;	Rubinstein-Taybi syndrome;RSTS;
103	CFC症候群;	Cardio-facio-cutaneous syndrome;CFC syndrome;
104	コステロ症候群;	Costello syndrome;
105	チャージ症候群;	CHARGE syndrome;
106	クリオピリン関連周期熱症候群;	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;
106-1	家族性寒冷自己炎症性症候群;	Familial cold autoinflammatory syndrome;FCAS;
106-2	マックル・ウェルズ症候群;	Mucke-Wells syndrome;
106-3	慢性乳児神経皮膚関節症候群;	Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;
106-4	新生児期発症多臓器系炎症性疾患;	Neonatal onset multisystem inflammatory disease;NOMID;
107	若年性特発性関節炎;	Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;
108	TNF受容体関連周期性症候群;	TNF receptor-associated periodic syndrome;
109	非典型溶血性尿毒症症候群;	Atypical hemolytic uremic syndrome;
110	ブラウ症候群;	Blau syndrome;Early-onset sarcoidosis;Systemic granulomatous diseases;
111	先天性ミオパチー;	Congenital myopathy;
111-1	ネマリンミオパチー;	Nemaline myopathy;
111-2	セントラルコア病;	Central core disease;
111-3	ミニコア病;	Minicore myopathy;
111-4	マルチミニコア病;	Multi-minicore myopathy;
111-5	ミオチュブラーミオパチー;	Myotubular myopathy;
111-6	中心核ミオパチー;	Centronuclear myopathy;
111-7	先天性筋線維タイプ不均等症;	Congenital fiber-type disproportion myopathy;
112	マリネスコ・シェーグレン症候群;	Marinesco-Sjogren syndrome;Hereditary cerebellar ataxia-childhood cataracts;
113	筋ジストロフィー;	Muscular dystrophy;
113-1	ジストロフィン異常症;	Dystrophinopathies;
113-2	デュシェンヌ型筋ジストロフィー;	Duchenne muscular dystrophy;
113-3	ベッカー型筋ジストロフィー;	Becker muscular dystrophy;
113-4	肢帯型筋ジストロフィー;	Limb-girdle muscular dystrophy;
113-5	ミオチリン異常症;	Myotilinopathy;
113-6	ラミン異常症;	Laminopathy;
113-7	カベオリン異常症;	Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;
113-8	デスミン異常症;	Desminopathy;
113-9	サルコグリカン異常症;	Sarcoglycanopathy;
113-10	α-ジストログリカン異常症;	α-dystroglycanopathy;
113-11	先天性筋ジストロフィー;	Congenital muscular dystrophy;
113-12	顔面肩甲上腕型筋ジストロフィー;	Facioscapulohumeral muscular dystrophy;
113-13	エメリー・ドレイフス型筋ジストロフィー;	Emery-Dreifuss muscular dystrophy;
113-14	眼咽頭筋型筋ジストロフィー;	Oculopharyngeal muscular dystrophy;
113-15	福山型先天性筋ジストロフィー;	Fukuyama-type congenital muscular dystrophy;FCMD;
113-16	Walker-Warburg症候群;	Walker-Warburg syndrome;
113-17	Muscle-Eye-Brain病;	Muscle-eye-brain disease;
113-18	筋強直性ジストロフィー;	Myotonic dystrophy;
113-19	インテグリンα欠損型先天性筋ジストロフィー;	Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;
113-20	メロシン欠損型先天性筋ジストロフィー;	Merosin-deficient congenital muscular dystrophy;
113-21	Ullrich型先天性筋ジストロフィー;	Ullrich congenital muscular dystrophy;
113-22	強直性脊椎症候群;	Rigid spine syndrome;
113-23	ダイナミン2欠損型先天性筋ジストロフィー;	Dynamin 2 deficient congenital muscular dystrophy;
113-24	テレソニン欠損型先天性筋ジストロフィー;	Telesonin-deficient congenital muscular dystrophy;
113-25	ミトコンドリア異常を伴う先天性筋ジストロフィー;	Congenital muscular dystrophy with mitochondrial structural abnormalities;
114	非ジストロフィー性ミオトニー症候群;	Non-dystrophic myotonia syndrome;Non-dystrophic Myotonia;
114-1	先天性ミオトニー;	Myotonia congenita;
114-2	先天性パラミオトニー;	Paramyotonia congenita;
114-3	トムゼン病;	Thomsen disease;Autosomal-dominant myotonia congenita;
114-4	ベッカー病;	Becker disease;Autosomal-recessive myotonia congenita;
114-5	カリウム惹起性ミオトニー（ナトリウムチャネルミオトニー）;	Sodium channel myotonia;
115	遺伝性周期性四肢麻痺;	Hereditary periodic paralysis;
115-1	遺伝性低カリウム性周期性四肢麻痺;	Hereditary Hypokalemic Periodic Paralysis;
115-2	遺伝性高カリウム（正カリウム）性周期性四肢麻痺;	Hereditary Hyperkalemic Periodic Paralysis;
115-3	Andersen-Tawil症候群;	Andersen-Tawil syndrome;
116	アトピー性脊髄炎;	Atopic myelitis;Idiopathic eosinophilic myelitis;
117	脊髄空洞症;	Syringomyelia;
118	脊髄髄膜瘤;	Myelomeningocele;
118-1	脊髄披裂;	Myeloschisis;
118-2	脊髄瘤;	Myelocele;
118-3	脊髄嚢瘤;	Myelocystocele;Syringomyelocele;
119	アイザックス症候群;	Isaacs syndrome;
119-1	モルバン症候群;	Morvan syndrome;Morvan fibrillary chorea;
119-2	抗VGKC複合体抗体関連脳炎;	Anti-VGKC antibody-associated limbic encephalitis;
120	遺伝性ジストニア;	Hereditary dystonia;
120-1	DYT1ジストニア;	DYT1 dystonia;
120-2	DYT2ジストニア;	DYT2 dystonia;
120-3	DYT3ジストニア;	DYT3 dystonia;X-linked dystonia-parkinsonism;Lubag;
120-4	DYT4ジストニア;	DYT4 dystonia;
120-5	DYT5ジストニア;	DYT5 dystonia;Segawa syndrome;Dopa-responsive dystonia;
120-6	DYT6ジストニア;	DYT6 dystonia;
120-7	DYT7ジストニア;	DYT7 dystonia;
120-8	DYT8ジストニア;	DYT8 dystonia;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1;
120-9	DYT9ジストニア;	DYT9 dystonia;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;
120-10	DYT10ジストニア;	DYT10 dystonia;Episodic kinesigenic dyskinesia 1;EKD1;
120-11	DYT11ジストニア;	DYT11 dystonia;Myoclonus-dystonia syndrome;
120-12	DYT12ジストニア;	DYT12 dystonia;Rapid-onset dystonia-parkinsonism;Alternating hemiplegia of childhood;Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss;CAPOS;
120-13	DYT13ジストニア;	DYT13 dystonia;
120-14	DYT14ジストニア;	DYT14 dystonia;Segawa syndrome;Dopa-responsive dystonia;
120-15	DYT15ジストニア;	DYT15 dystonia;
120-16	DYT16ジストニア;	DYT16 dystonia;
120-17	DYT17ジストニア;	DYT17 dystonia;
120-18	DYT18ジストニア;	DYT18 dystonia;Paroxysmal execise-induced dyskinesia;
120-19	DYT19ジストニア;	DYT19 dystonia;Episodic kinesigenic dyskinesia 2;
120-20	DYT20ジストニア;	DYT20 dystonia;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2;
120-21	NBIA1;	Neurodegeneration with Brain Iron Accumulation 1;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Hallervorden-Spatz syndrome;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration;
120-22	NBIA2;	Neurodegeneration with Brain Iron Accumulation 2;Infantile neuroaxonal dystrophy;INAD;NBIA2;Karak syndrome;
120-23	NBIA3;	Neurodegeneration with Brain Iron Accumulation 3;Neuroferritinopathy;NBIA3;
120-24	NBIA4;	Neurodegeneration with Brain Iron Accumulation 4;Aceruloplasminemia;Hereditary ceruloplasmin deficiency;NBIA4;
120-25	NBIA5;	Neurodegeneration with Brain Iron Accumulation 5;NBIA5;Beta-propeller protein-associated neurodegeneration;BPAN;
120-26	FAHN;	Fatty Acid Hydroxylase-associated neurodegeneration;Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35;
121	神経フェリチン症;	Neuroferritinopathy;
122	脳表ヘモジデリン沈着症;	Superficial siderosis;Brain table hemosiderosis;
123	禿頭と変形性脊椎症を伴う常染色体劣性白質脳症;	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis;Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis;Cerebral autosomal recessive arteriopathy;Autosomal recessive leukoencephalopathy;
124	皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症;	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy;Autosomal dominant cerebral artery disease;
125	神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症;	Hereditary diffuse leukoencephalopathy with spheroid;Hereditary diffuse leukoencephalopathy;
126	ペリー症候群;	Perry syndrome;
127	前頭側頭葉変性症;	Frontotemporal lobar degeneration;
127-1	前頭側頭型認知症;	Frontotemporal dementia;
127-2	意味性認知症;	Semantic dementia;
128	ビッカースタッフ脳幹脳炎;	Bickerstaff brainstem encephalitis;
129	痙攣重積型（二相性）急性脳症;	Acute encephalopathy with biphasic seizures and late reduced diffusion;Epilepticus type biphasic acute encphalopathy;Epilepticus type acute encphalopathy;
130	先天性無痛無汗症;	Congenital insensitivity to pain with anhydrosis;CIPA;
130-1	遺伝性感覚自律神経ニューロパチー4型;	Hereditary sensory and autonomic neuropathy type IV;HSAN4;
130-2	遺伝性感覚自律神経ニューロパチー5型;	Hereditary sensory and autonomic neuropathy type V;HSAN5;
131	アレキサンダー病;	Alexander disease;
132	先天性核上性球麻痺;	Congenital supranuclear bulbar palsy;Congenital suprabulbar paresis;Worcester drought syndrome;Worster-Drought syndrome;
133	メビウス症候群;	Moebius syndrome;Mobius syndrome;
134	中隔視神経形成異常症/ドモルシア症候群;	Septo-optic dysplasia;De Morsier syndrome;
135	アイカルディ症候群;	Aicardi syndrome;
136	片側巨脳症;	Hemimegalencephaly;Unilateral megalencephaly;
137	限局性皮質異形成;	Focal cortical dysplasia;
138	神経細胞移動異常症;	Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;
138-1	古典型滑脳症;	Classical Lissencephaly;
138-2	異所性灰白質;	Ectopic gray matter;
138-3	皮質下帯状異所性灰白質;	Subcortical ectopic gray matter;
138-4	脳室周囲結節状異所性灰白質;	Periventricular nodular ectopic gray matter;
138-5	多小脳回;	Polymicrogyria;
138-6	敷石様皮質異形成;	Cortical dysplasia with cobblestone appearance;
138-7	裂脳症;	Schizencephaly;
138-8	孔脳症;	Porencephaly;
138-9	ミラー・ディカー症候群;	Miller-Dieker syndrome;
138-10	傍シルビウス裂多小脳回;	Perisylvian polymicrogyria;
138-11	Ｘ連鎖性滑脳症;	X-linked Lissencephaly;
139	先天性大脳白質形成不全症;	Congenital cerebral hypomyelination;Congenital cerebral white matter aplasia;
139-1	ペリツェウス・メルツバッハ病;	Pelizaeus-Merzbacher disease;
139-2	ペリツェウス・メルツバッハ様病１;	Pelizaeus-Merzbacher-like disease 1;Pelizaeus-Merzbacher-like disease type 1;
139-3	基底核および小脳萎縮を伴う髄鞘形成不全症;	Hypomyelination with atrophy of the basal ganglia and cerebellum;
139-4	18q欠失症候群;	18q-syndrome;Chromosome 18q deletion syndrome;
139-5	アラン・ハーンドン・タドリー症候群;	Allan-Herndon-Dudley syndrome;
139-6	HSP60 chaperon病;	Mitochondrial Hsp60 chaperonopathy;
139-7	サラ病;	Salla disease;
139-8	小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症;	Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum;
139-9	先天性白内障を伴う髄鞘形成不全症;	Hypomyelination and congenital cataract;
139-10	失調、歯牙低形成を伴う髄鞘形成不全症;	Ataxia, delayed dentition, and hypomyelination;
139-11	脱髄型末梢神経炎;	Peripheral demyelinating neuropathy;
139-12	中枢性髄鞘形成不全症;	Central dysmyelinating leukodystrophy;
139-13	ワーデンバーグ症候群;	Waardenburg syndrome;
139-14	ヒルシュスプルング病;	Hirschsprung disease;
140	ドラベ症候群;	Dorabe syndrome;Dravet syndrome;
141	海馬硬化を伴う内側側頭葉てんかん;	Mesial temporal lobe epilepsy with hippocampal sclerosis;Medial temporal lobe epilepsy with hippocampal sclerosis;Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis;Medial temporal lobe epilepsy;
142	ミオクロニー欠神てんかん;	Myoclonic absence epilepsy;
143	ミオクロニー脱力発作を伴うてんかん;	Epilepsy with myoclonic-atonic seizure;Epilepsy with myoclonic cataplexy;
144	レノックス・ガストー症候群;	Lennox-Gastaut syndrome;
145	ウエスト症候群;	West syndrome;Infantile spasm;
146	大田原症候群;	Ohtahara syndrome;Early infantile epileptic encephalopathy with suppression burst;
147	早期ミオクロニー脳症;	Early myoclonic encephalopathy;
148	遊走性焦点発作を伴う乳児てんかん;	Epilepsy of infancy with migrating focal seizure;Infant epilepsy with migratory focus seizure;Migrating partial seizures in infancy;Infant epilepsy;
149	片側痙攣・片麻痺・てんかん症候群;	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
150	環状20番染色体症候群;	Ring chromosome 20 epilepsy syndrome;Ring chromosome 20 syndrome;
151	ラスムッセン脳炎;	Rasmussen encephalitis;
152	ＰＣＤＨ19関連症候群;	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
153	難治頻回部分発作重積型急性脳炎;	Acute encephalitis with refractory, repetitive partial seizure;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
154	徐波睡眠期持続性棘徐波を示すてんかん性脳症;	Epilepsy with continuous spikes and waves during slow sleep;Epileptic encephalopathy with continuous spike-and-wave during sleep;
155	ランドウ・クレフナー症候群;	Acquired aphasia with convulsive disorder;Landau-Kleffner syndrome;
156	レット症候群;	Rett syndrome;
157	スタージ・ウェーバー症候群;	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	結節性硬化症;	Tuberous sclerosis;Tuberous sclerosis complex;
159	色素性乾皮症;	Xeroderma pigmentosum;
160	先天性魚鱗癬;	Congenital ichthyosis;
160-1	ケラチン症性魚鱗癬;	Keratinopathic ichthyosis;
160-2	表皮融解性魚鱗癬(優性・劣性);	Epidermolytic ichthyosis;
160-3	表在性表皮融解性魚鱗癬;	Superficial epidermolytic ichthyosis;
160-4	道化師様魚鱗癬;	Harlequin ichthyosis;
160-5	道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬;	Autosomal recessive congenital ichthyosis;
160-6	先天性魚鱗癬様紅皮症;	Congenital Ichthyosiform Erythroderma;
160-7	葉状魚鱗癬;	Foliate ichthyosis;
160-8	魚鱗癬症候群;	Ichthyosis syndrome;
160-9	ネザートン症候群;	Netherton syndrome;
160-10	シェーグレン・ラルソン症候群;	Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;
160-11	KID症候群;	Keratitis-ichtyosis-deafness syndrome;
160-12	ドルフマン・シャナリン症候群;	Dorfman-Chanarin syndrome;
160-13	中性脂肪蓄積症;	Neutral lipid storage disease;NLSD;
160-14	多発性スルファターゼ欠損症;	Multiple sulfatase deficiency;Austin disease;
160-15	X連鎖性劣性魚鱗癬症候群;	Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;
160-16	IBID;	Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;
160-17	裂毛症;	Trichothiodystrophy;
160-18	毛包性魚鱗癬;	Follicular ichthyosis;
160-19	CHILD症候群;	Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;
160-20	Conradi-Hünermann-Happle症候群;	Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;
161	家族性良性慢性天疱瘡;	Familial benign chronic pemphigus;Benign familial pemphigus;Hailey-Hailey disease;
162	類天疱瘡（後天性表皮水疱症を含む。）;	Pemphigoid;
162-1	後天性表皮水疱症;	Epidermolysis bullosa acquisita;
163	特発性後天性全身性無汗症;	Idiopathic pure sudomotor failure;Idiopathic acquired systemic anhidrosis;Acquired idiopathic generalized anhidrosis;AIGA;
163-1	特発性分節型無汗症;	Idiopathic segmental anhidrosis;
163-2	特発性純粋発汗不全;	Idiopathic pure sudomotor failure;IPSF;
163-3	特発性汗腺不全;	Sweat gland failure;
164	眼皮膚白皮症;	Oculocutaneous albinism;
164-1	ヘルマンスキー・パドラック症候群;	Hermansky-Pudlak syndrome;
164-2	チェディアック・東症候群;	Chediak-Higashi syndrome;
164-3	グリセリ症候群;	Griscelli syndrome;
165	肥厚性皮膚骨膜症;	Pachydermoperiostosis;
166	弾性線維性仮性黄色腫;	Pseudoxanthoma elasticum;
167	マルファン症候群;	Marfan syndrome;
168	エーラス・ダンロス症候群;	Ehlers-Danlos syndrome;
169	メンケス病;	Menkes disease;
170	オクシピタル・ホーン症候群;	Occipital horn syndrome;
171	ウィルソン病;	Wilson disease;
172	低ホスファターゼ症;	Hypophosphatasia;
173	VATER症候群;	VATER syndrome;VATER association;VACTERL association;
174	那須・ハコラ病;	Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;PLOSL;
175	ウィーバー症候群;	Weaver syndrome;
176	コフィン・ローリー症候群;	Coffin-Lowry syndrome;
177	ジュベール症候群関連疾患;	Joubert syndrome related disorder;Joubert syndrome and related disorder;Joubert syndrome;JSRD;
177-1	有馬症候群;	Arima syndrome;
177-2	セニオール・ローケン症候群;	Senior-Loken syndrome;Senior-Løken syndrome;
177-3	COACH症候群;	COACH syndrome;
177-4	口-顔-指症候群;	Orofaciodigital syndrome;
178	モワット・ウィルソン症候群;	Mowat-Wilson syndrome;
179	ウィリアムズ症候群;	Williams syndrome;
180	ＡＴＲ－Ｘ症候群;	ATR-X syndrome;Alpha-thalassemia mental retardation syndrome;
181	クルーゾン症候群;	Crouzon syndrome;
182	アペール症候群;	Apert syndrome;
183	ファイファー症候群;	Pfeiffer syndrome;
184	アントレー・ビクスラー症候群;	Antley-Bixler syndrome;
185	コフィン・シリス症候群;	Coffin-Siris syndrome;
186	ロスムンド・トムソン症候群;	Rothmund-Thomson syndrome;
186-1	ラパデリノ症候群;	RAPADILINO syndrome;
186-2	バレー・ジェロルド症候群;	Baller-Gerold syndrome;
187	歌舞伎症候群;	Kabuki syndrome;
188	多脾症候群;	Polysplenia syndrome;
189	無脾症候群;	Asplenia syndrome;
190	鰓耳腎症候群;	Branchio-oto-renal syndrome;BOR syndrome;
191	ウェルナー症候群;	Werner syndrome;
192	コケイン症候群;	Cockayne syndrome;
193	プラダー・ウィリ症候群;	Prader-Willi syndrome;
194	ソトス症候群;	Sotos syndrome;
195	ヌーナン症候群;	Noonan syndrome;
196	ヤング・シンプソン症候群;	Young-Simpson syndrome;
197	１p36欠失症候群;	1p36 deletion syndrome;
198	４p欠失症候群;	4p deletion syndrome;4p-syndrome;
199	５p欠失症候群;	5p deletion syndrome;5p-syndrome;
200	第14番染色体父親性ダイソミー症候群;	Paternal uniparental disomy of chromosome 14;No. 14 chromosome father disomy syndrome;Kagami-Ogata syndrome;
201	アンジェルマン症候群;	Angelman syndrome;
202	スミス・マギニス症候群;	Smith-Magenis syndrome;
203	22q11.2欠失症候群;	22q11.2 deletion syndrome;
204	エマヌエル症候群;	Emanuel syndrome;Derivative 22 syndrome;
205	脆弱Ｘ症候群関連疾患;	Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;
206	脆弱Ｘ症候群;	Fragile X syndrome;
207	総動脈幹遺残症;	Persistent truncus arteriosus;
208	修正大血管転位症;	Corrected transposition of great arteries;
209	完全大血管転位症;	Complete transposition of great vessel;Complete transposition of great arteries;
210	単心室症;	Single ventricle heart defect;Complete TGA;Univentricular heart;Single ventricular circulation syndrome;
211	左心低形成症候群;	Hypoplastic left heart syndrome;Single ventricular circulation syndrome;
212	三尖弁閉鎖症;	Tricuspid atresia;Single ventricular circulation syndrome;
213	心室中隔欠損を伴わない肺動脈閉鎖症;	Pulmonary atresia without ventricular septum defect;Pulmonary atresia with intact ventricular septum;Pulmonary atresia;Single ventricular circulation syndrome;
214	心室中隔欠損を伴う肺動脈閉鎖症;	Pulmonary atresia with ventricular septum defect;Pulmonary atresia with ventricular septal defect;Pulmonary atresia;Tetralogy of Fallot with severe pulmonary stenosis;
215	ファロー四徴症;	Tetralogy of Fallot;Fallot tetralogy;
216	両大血管右室起始症;	Double outlet right ventricle;
217	エプスタイン病;	Ebstein disease;Ebstein malformation;
218	アルポート症候群;	Alport syndrome;
219	ギャロウェイ・モワト症候群;	Galloway-Mowat syndrome;
220	急速進行性糸球体腎炎;	Rapidly progressive glomerulonephritis;
221	抗糸球体基底膜腎炎;	Anti-glomerular basement membrane disease;
222	一次性ネフローゼ症候群;	Primary nephrotic syndrome;
222-1	微小変化型ネフローゼ症候群;	Minimal change nephrotic syndrome;MCNS;
222-2	膜性腎症;	Membranous nephropathy;
222-3	巣状分節性糸球体硬化症;	Focal segmental glomerulosclerosis;FSGS;
222-4	膜性増殖性糸球体腎炎;	Membranoproliferative glomerulonephritis;MPGN;
223	一次性膜性増殖性糸球体腎炎;	Primary membranoproliferative glomerulonephritis;
223-1	デンスデポジット病;	Dense deposit disease;
224	紫斑病性腎炎;	Purpura nephritis;
225	先天性腎性尿崩症;	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
226	間質性膀胱炎（ハンナ型）;	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	オスラー病;	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	閉塞性細気管支炎;	Bronchiolitis obliterans;Obliterating bronchiolitis;
229	肺胞蛋白症（自己免疫性又は先天性）;	Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;
229-1	自己免疫性肺胞蛋白症;	Autoimmune pulmonary alveolar proteinosis;
229-2	先天性肺胞蛋白症;	Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;
230	肺胞低換気症候群;	Alveolar hypoventilation syndrome;Hypoventilation syndrome;
231	α1－アンチトリプシン欠乏症;	Alpha-1-antitrypsin deficiency;AATD;
232	カーニー複合;	Carney complex;
233	ウォルフラム症候群;	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
234	ペルオキシソーム病（副腎白質ジストロフィーを除く。）;	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Zellweger syndrome;
234-1	ペルオキシソーム形成異常症（PEX遺伝子異常症）;	Peroxisome biogenesis disorder;PEX gene disorder;
234-2	ツェルベーガー症候群;	Zellweger syndrome;
234-3	新生児型副腎白質ジストロフィー;	Neonatal adrenoleukodystrophy;
234-4	乳児レフサム病;	Infantile Refsum disease;
234-5	根性点状軟骨異形成症1型;	Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;
234-6	ペルオキシソームβ酸化系酵素欠損症;	Peroxisomal beta-oxidation enzyme deficiency;
234-7	アシルCoAオキシダーゼ欠損症;	Acyl-CoA oxidase deficiency;AOX deficiency;
234-8	D-二頭酵素欠損症;	D-Bifunctional protein deficiency;DBP deficiency;
234-9	ステロールキャリアプロテインX欠損症;	Sterol carrier protein X deficiency;SCPx deficiency;
234-10	2-メチルアシルCoAラセマーゼ欠損症;	2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;
234-11	レフサム病;	Refsum disease;
234-12	プラズマローゲン合成系酵素欠損症;	Plasmalogen biosynthesis enzyme deficiency;
234-13	根性点状軟骨異形成症2型;	Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;
234-14	根性点状軟骨異形成症3型;	Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;
234-15	原発性高シュウ酸尿症I型;	Primary hyperoxaluria type 1;
234-16	アカタラセミア（無カタラーゼ血症）;	Acatalasemia;Acatalasia;
234-17	隣接ABCD1/DXS1357E欠失症候群;	Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;
235	副甲状腺機能低下症;	Hypoparathyroidism;Accessory thyroid hypergasia disease;
236	偽性副甲状腺機能低下症;	Pseudohypoparathyroidism;
237	副腎皮質刺激ホルモン不応症;	ACTH unresponsiveness;Adrenocorticotropic hormone unresponsiveness;Adrenocorticotropic hormone insensitivity;
237-1	Triple A症候群（Allgrove症候群）;	Triple A syndrome;Allgrove syndrome;
238	ビタミンＤ抵抗性くる病/骨軟化症;	Vitamin D-resistant rickets;Vitamin D-resistant osteomalacia;VDRR;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;
239	ビタミンＤ依存性くる病/骨軟化症;	Vitamin D-dependent rickets;Vitamin D-dependent osteomalacia;VDDR;
240	フェニルケトン尿症;	Phenylketonuria;
240-1	PAH欠損症;	Phenylalanine hydroxylase deficiency;PAH deficiency;
240-2	BH4欠損症;	Tetrahydrobiopterin deficiency;BH4 deficiency;
240-3	BH4反応性高Phe血症;	BH4 reactive hyper pheemia;
241	高チロシン血症1型;	Hypertyrosinemia type I;Tyrosinemia type I;Tyrosinemia I;Hereditary tyrosinemia, Type I;
242	高チロシン血症2型;	Hypertyrosinemia type II;Tyrosinemia type II;Tyrosinemia II;Hereditary tyrosinemia, Type II;
243	高チロシン血症3型;	Hypertyrosinemia type III;High tyrosinemia;Tyrosinemia type III;Tyrosinemia III;Hereditary tyrosinemia, Type III;
244	メープルシロップ尿症;	Maple syrup urine disease;MSUD;
245	プロピオン酸血症;	Propionic acidemia;
246	メチルマロン酸血症;	Methylmalonic acidemia;
247	イソ吉草酸血症;	Isovaleric acidemia;Isovaleric aciduria;Isovaleric acid CoA dehydrogenase deficiency;
248	グルコーストランスポーター1欠損症;	Glucose transporter type 1 deficiency;GLUT1 deficiency;
249	グルタル酸血症1型;	Glutaric acidemia type 1;
250	グルタル酸血症2型;	Glutaric acidemia type 2;Multiple acyl-CoA dehydrogenase deficiency;Multiple acyl-CoA dehydrogenation deficiency;MADD;
251	尿素サイクル異常症;	Urea cycle disorder;
251-1	N-アセチルグルタミン酸合成酵素欠損症;	N-acetylglutamate synthase deficiency;NAGS deficiency;
251-2	カルバミルリン酸合成酵素欠損症;	Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency;
251-3	オルニチントランスカルバミラーゼ欠損症;	Ornithine transcarbamylase deficiency;OTC deficiency;
251-4	シトルリン血症（古典型、I型）;	Classic citrullinemia;Citrullinemia type I;
251-5	アルギニノコハク酸尿症;	Argininosuccinic aciduria;
251-6	アルギニン血症;	Argininemia;
251-7	高オルニチン高アンモニア血症ホモシトルリン尿症症候群;	Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome;
252	リジン尿性蛋白不耐症;	Lysinuric protein intolerance;
253	先天性葉酸吸収不全;	Congenital folate malabsorption;Hereditary folate malabsorption;Folate malabsorption;
254	ポルフィリン症;	Porphyria;
254-1	急性間欠性ポルフィリン症;	Acute intermittent porphyria;
254-2	遺伝性コプロポルフィリン症;	Hereditary coproporphyria;
254-3	異型ポルフィリン症;	Variegate porphyria;
254-4	赤芽球性（骨髄性）プロトポルフィリン症;	Erythropoietic protoporphyria;
254-5	晩発性皮膚ポルフィリン症;	Porphyria cutanea tarda;
254-6	先天性骨髄性ポルフィリン症;	Congenital erythropoietic porphyria;
254-7	X連鎖優性プロトポルフィリン症;	X-linked dominant protoporphyria;
254-8	肝性骨髄性ポルフィリン症;	Hepatoerythropoietic porphyria;
255	複合カルボキシラーゼ欠損症;	Multiple carboxylase deficiency;
255-1	ホロカルボキシラーゼ合成酵素欠損症;	Holocarboxylase synthetase deficiency;HCS deficiency;
255-2	ビオチニダーゼ欠損症;	Biotinidase deficiency;
256	筋型糖原病;	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
256-1	糖原病0型;	Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;
256-2	糖原病II型;	Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;
256-3	糖原病III型;	Glycogen storage disease type III;GSDIII;Cori disease;Glycogen debranching enzyme deficiency;
256-4	糖原病IV型;	Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;
256-5	糖原病V型;	Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;
256-6	糖原病VII型;	Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;
256-7	糖原病IX型;	Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;
256-8	PGK欠損症;	Phosphoglycerate kinase deficiency;PGK deficiency;
256-9	糖原病X型;	Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;
256-10	糖原病XI型;	Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;
256-11	糖原病XII型;	Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;
256-12	糖原病XIII型;	Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;
256-13	糖原病XIV型;	Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;
256-14	糖原病XV型;	Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency;
257	肝型糖原病;	Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;
257-1	糖原病I型;	Glycogen storage disease type I;GSDI;von Gierke disease;Glucose-6-phosphatase deficiency;G6Pase deficiency;
257-2	糖原病III型;	Glycogen storage disease type III;GSDIII;Cori disease;Glycogen debranching enzyme deficiency;
257-3	糖原病IV型;	Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Adult polyglucosan body disease;
257-4	糖原病VI型;	Glycogen storage disease type VI;GSDVI;Hers disease;Hepatic phosphorylase deficiency;Liver phosphorylase deficiency;
257-5	糖原病IX型;	Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;
258	ガラクトース－１－リン酸ウリジルトランスフェラーゼ欠損症;	Galactose-1-phosphate uridylyltransferase deficiency;Galactose-1-phosphate uridyltransferase deficiency;Galactosemia type 1;GALT deficiency;
259	レシチンコレステロールアシルトランスフェラーゼ欠損症;	Lecithin-cholesterol acyltransferase deficiency;LCAT deficiency;
259-1	魚眼病;	Fish-eye disease;
260	シトステロール血症;	Sitosterolemia;
261	タンジール病;	Tangier disease;
262	原発性高カイロミクロン血症;	Primary hyperchylomicronemia;
263	脳腱黄色腫症;	Cerebrotendinous xanthomatosis;27-hydroxylase deficiency;CYP27 deficiency;
264	無βリポタンパク血症;	Abetalipoproteinemia;Microsomal triglyceride transfer protein deficiency;MTP deficiency;
265	脂肪萎縮症;	Lipodystrophy;
265-1	先天性全身性脂肪萎縮症;	Generalized congenital lipodystrophy;Berardinelli-Seip syndrome;
265-2	家族性部分性脂肪萎縮症;	Familial partial lipodystrophy;Dunnigan-type familial partial lipodystrophy;Kobbering-type familial partial lipodystrophy;
265-3	後天性全身性脂肪萎縮症;	Acquired generalized lipodystrophy;Lawrence syndrome;
265-4	後天性部分性脂肪萎縮症;	Partial acquired lipodystrophy;Barraquer-Simons syndrome;
266	家族性地中海熱;	Familial mediterranean fever;
267	高ＩｇＤ症候群;	Hyper-IgD syndrome;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
268	中條・西村症候群;	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群;	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
270	慢性再発性多発性骨髄炎;	Chronic recurrent multifocal osteomyelitis;
271	強直性脊椎炎;	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
272	進行性骨化性線維異形成症;	Fibrodysplasia ossificans progressiva;
273	肋骨異常を伴う先天性側弯症;	Congenital scoliosis with rib anomaly;Congenital scoliosis;
274	骨形成不全症;	Osteogenesis Imperfecta;
275	タナトフォリック骨異形成症;	Thanatophoric dysplasia;
276	軟骨無形成症;	Achondroplasia;
277	リンパ管腫症/ゴーハム病;	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	巨大リンパ管奇形（頚部顔面病変）;	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
279	巨大静脈奇形（頚部口腔咽頭びまん性病変）;	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	巨大動静脈奇形（頚部顔面又は四肢病変）;	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	クリッペル・トレノネー・ウェーバー症候群;	Klippel-Trenaunay-Weber syndrome;
282	先天性赤血球形成異常性貧血;	Congenital dyserythropoietic anemia;
283	後天性赤芽球癆;	Acquired pure red cell aplasia;Pure red cell aplasia;
284	ダイアモンド・ブラックファン貧血;	Diamond-Blackfan anemia;
285	ファンコニ貧血;	Fanconi anemia;
286	遺伝性鉄芽球性貧血;	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
287	エプスタイン症候群;	Epstein syndrome;
288	自己免疫性後天性凝固因子欠乏症;	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
288-1	自己免疫性後天性凝固第XIII／13因子（F13）欠乏症（旧称：自己免疫性出血病XIII）;	Factor XIII deficiency;
288-2	自己免疫性後天性凝固第VIII／8因子（F8）欠乏症（後天性血友病A）;	Factor VIII deficiency;Acquired hemophilia A;
288-3	自己免疫性後天性フォンウィルブランド因子欠乏症（自己免疫性後天性フォンウィルブランド病）;	von Willebrand Disease;
288-4	自己免疫性後天性凝固第V／5因子（F5）欠乏症（いわゆる第5因子インヒビター）;	Factor V deficiency;
289	クロンカイト・カナダ症候群;	Cronkhite-Canada syndrome;
290	非特異性多発性小腸潰瘍症;	Chronic nonspecific multiple ulcers of the small intestine;Nonspecific multiple ulcers in the small intestine;
291	ヒルシュスプルング病（全結腸型又は小腸型）;	Hirschsprung disease, entire colon type;Hirschsprung disease, small intestine type;Hirschsprung disease;Hirschprung disease;Hirschsprung disease associated entercolitis;
292	総排泄腔外反症;	Cloacal exstrophy;Vesicointestinal fissure;
293	総排泄腔遺残;	Persistent cloaca;
294	先天性横隔膜ヘルニア;	Congenital diaphragmatic hernia;
295	乳幼児肝巨大血管腫;	Infant huge hepatic hemangioma;Infant giant liver hemangioma;
296	胆道閉鎖症;	Biliary atresia;
297	アラジール症候群;	Alagille syndrome;
298	遺伝性膵炎;	Hereditary pancreatitis;Chronic pancreatitis;
299	嚢胞性線維症;	Cystic fibrosis;
300	IgG4関連疾患;	IgG4-related disease;
300-1	自己免疫性膵炎;	Autoimmune pancreatitis;
300-2	IgG4関連硬化性胆管炎;	IgG4-related sclerosing cholangitis;
300-3	IgG4関連涙腺・眼窩及び唾液腺病変;	IgG4-related lacrimal gland, orbital, and salivary gland lesions;
300-4	IgG4関連腎臓病;	IgG4-related kidney disease;
301	黄斑ジストロフィー;	Macular dystrophy;
301-1	卵黄様黄斑ジストロフィー（ベスト病）;	Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;
301-2	Stargardt病;	Stargardt disease;
301-3	オカルト黄斑ジストロフィー;	Occult macular dystrophy;
301-4	錐体ジストロフィー、及び錐体杆体ジストロフィー;	Cone dystrophy;Cone rod dystrophy;
301-5	X連鎖性（X染色体）若年網膜分離症;	X-linked juvenile retinoschisis;
301-6	中心性輪紋状脈絡膜ジストロフィー;	Central areolar choroidal dystrophy;
302	レーベル遺伝性視神経症;	Leber hereditary optic neuropathy;
303	アッシャー症候群;	Usher syndrome;
304	若年発症型両側性感音難聴;	Juvenile-onset bilateral sensorineural hearing loss;
305	遅発性内リンパ水腫;	Delayed endolymphatic hydrops;
306	好酸球性副鼻腔炎;	Eosinophilic sinusitis;
307	カナバン病;	Canavan disease;
308	進行性白質脳症;	Progressive leukoencephalopathy;
308-1	皮質下嚢胞をもつ大頭型白質脳症;	Megalencephalic leukoencephalopathy with subcortical cyst;
308-2	白質消失病;	Leukoencephalopathy with vanishing white matter;
308-3	卵巣機能障害を伴う進行性白質脳症;	Leukoencephalopathy, progressive, with ovarian failure;
309	進行性ミオクローヌスてんかん;	Progressive myoclonus epilepsy;
309-1	ウンフェルリヒト・ルンドボルグ病;	Unverricht-Lundborg disease;
309-2	ラフォラ病;	Lafora disease;
309-3	良性成人型家族性ミオクローヌスてんかん;	Benign adult familial myoclonus epilepsy;BAFME;
310	先天異常症候群;	Congenital anomalies syndrome;
310-1	1q部分重複症候群;	Partial trisomy 1q syndrome;Trisomy 1q;
310-2	9q34欠失症候群;	9q34 deletion syndrome;
310-3	コルネリア・デランゲ症候群;	Cornelia de Lange syndrome;CdLS;
310-4	スミス・レムリ・オピッツ症候群;	Smith-Lemli-Opitz syndrome;SLO syndrome;
311	先天性三尖弁狭窄症;	Congenital tricuspid stenosis;
312	先天性僧帽弁狭窄症;	Congenital mitral stenosis;
313	先天性肺静脈狭窄症;	Congenital pulmonary vein stenosis;
314	左肺動脈右肺動脈起始症;	Vascular sling;
315	ネイルパテラ症候群（爪膝蓋骨症候群）／ＬＭＸ１Ｂ関連腎症;	Nail-Patella syndrome;LMX1B-associated nephropathy;
315-1	ネイルパテラ症候群（爪膝蓋骨症候群）;	Nail-Patella syndrome;
315-2	ＬＭＸ１Ｂ関連腎症;	LMX1B-associated nephropathy;
316	カルニチン回路異常症;	Carnitine cycle disorder;
316-1	カルニチンパルミトイルトランスフェラーゼ１（CPT1）欠損症;	Carnitine palmitoyltransferase I deficiency;CPT1 deficiency;
316-2	カルニチンパルミトイルトランスフェラーゼ２（CPT2）欠損症;	Carnitine palmitoyltransferase II deficiency;CPT2 deficiency;
316-3	カルニチン/アシルカルニチントランスロカーゼ（CACT）欠損症;	Carnitine-acylcarnitine translocase deficiency;CACT deficiency;
316-4	カルニチントランスポーター（OCTN-2）欠損症;	Carnitine transporter deficiency;OCTN-2 deficiency;
317	三頭酵素欠損症;	Trifunctional protein deficiency;
318	シトリン欠損症 ;	Citrin deficiency;
318-1	新生児肝内胆汁うっ滞症;	Neonatal intrahepatic cholestasis caused by citrin deficiency;NICCD;
318-2	成人発症II型シトルリン血症;	Adult-onset type II citrullinemia;CTLN2;
319	セピアプテリン還元酵素（ＳＲ）欠損症;	Sepiapterin reductase deficiency;
320	先天性グリコシルホスファチジルイノシトール（GPI）欠損症;	Inherited glycosylphosphatidylinositol deficiency;Congenital glycosylphosphatidylinositol deficiency;
321	非ケトーシス型高グリシン血症;	Non-ketotic hyperglycinemia;
322	β―ケトチオラーゼ欠損症;	Beta-ketothiolase deficiency;
323	芳香族L－アミノ酸脱炭酸酵素欠損症;	Aromatic L-amino acid decarboxylase deficiency;
324	メチルグルタコン酸尿症;	Methylglutaconic aciduria;
324-1	メチルグルタコニルCoAヒドラターゼ欠損症;	3-methylglutaconyl-CoA hydratase deficiency;
324-2	Barth症候群;	Barth syndrome;
324-3	Costeff症候群;	Costeff syndrome;
324-4	ミトコンドリア呼吸鎖異常症;	Mitochondrial respiratory chain disorder;
324-5	DCMA症候群;	Dilated cardiomyopathy with ataxia syndrome;DCMA syndrome;
325	遺伝性自己炎症疾患;	Hereditary autoinflammatory syndrome;
325-1	NLRC4異常症;	NLRC4 abnormality;
325-2	ADA2欠損症;	Adenosine deaminase 2 deficiency;ADA2 deficiency;
325-3	エカルディ・グティエール症候群;	Aicardi-Goutieres syndrome;
325-4	A20ハプロ不全症;	A20 haploinsufficiency;
326	大理石骨病;	Osteopetrosis;
327	特発性血栓症（遺伝性血栓性素因によるものに限る。）;	Idiopathic thrombosis;
328	前眼部形成異常;	Anterior segment dysgenesis;
329	無虹彩症;	Aniridia;
330	先天性気管狭窄症／先天性声門下狭窄症;	Congenital tracheal stenosis;Congenital subglottic stenosis;
330-1	先天性気管狭窄症;	Congenital tracheal stenosis;
330-2	先天性声門下狭窄症;	Congenital subglottic stenosis;
331	特発性多中心性キャッスルマン病;	Idiopathic multicentric castleman disease;Castleman disease;
332	膠様滴状角膜ジストロフィー;	Gelatinous drop-like corneal dystrophy;
333	ハッチンソン・ギルフォード症候群;	Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;