1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;Kennedy disease;
2	Amyotrophic lateral sclerosis;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
3-1	Spinal muscular atrophy type I;SMA I;Werdnig-Hoffman disease;
3-2	Spinal muscular atrophy type II;SMA II;Dubowitz disease;
3-3	Spinal muscular atrophy type III;SMA III;Kugelberg-Welander disease;
3-4	Spinal muscular atrophy type IV;SMA IV;
4	Primary lateral sclerosis;
5	Progressive supranuclear palsy;
6	Parkinson disease;
7	Corticobasal degeneration;Corticobasal syndrome;
8	Huntington disease;Huntington chorea;
9	Neuroacanthocytosis;
9-1	Choreoacanthocytosis;Chorea-acanthocytosis;Levine-Critchley syndrome;
9-2	McLeod syndrome;
10	Charcot-Marie-Tooth disease;
11	Myasthenia gravis;
12	Congenital myasthenic syndrome;
12-1	End-plate acetylcholine receptor deficiency;
12-2	Slow-channel congenital myasthenic syndrome;
12-3	Fast-channel congenital myasthenic syndrome;
12-4	Sodium channel myasthenia;
12-5	End-plate acetylcholine esterase deficiency;
12-6	Congenital myasthenic syndrome with episodic apnoea;
13	Multiple sclerosis;Neuromyelitis optica;
13-1	Multiple sclerosis;
13-2	Neuromyelitis optica;
13-3	Devic disease;
13-4	Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
14-1	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;
14-2	Multifocal motor neuropathy;
15	Inclusion body myositis;
16	Crow-Fukase syndrome;POEMS syndrome;
16-1	Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;
16-2	Takatsuki disease;
16-3	PEP syndrome;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;
17	Multiple system atrophy;
17-1	Olivopontocerebellar atrophy;
17-2	Striatonigral degeneration;
17-3	Shy-Drager syndrome;
18	Spinocerebellar degeneration;
19	Lysosomal storage disease;Lysosomal disease;
19-1	Gaucher disease;
19-2	Niemann-Pick disease;
19-3	Niemann-Pick disease type C;Niemann-Pick disease, type C;Niemann-Pick type C;
19-4	GM1-gangliosidosis;GM1-gangliosidoses;
19-5	GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;
19-6	Krabbe disease;
19-7	Metachromatic leukodystrophy;
19-8	Multiple-sulfatase deficiency;
19-9	Farber disease;
19-10	Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;
19-11	Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;
19-12	Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;
19-13	Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;
19-14	Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;
19-15	Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;
19-16	Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;
19-17	Sialidosis;
19-18	Galactosialidosis;
19-19	Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;
19-20	Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;
19-21	Beta-Mannosidosis;Beta-Mannosidase Deficiency;
19-22	Fucosidosis;
19-23	Aspartylglucosaminuria;
19-24	Schindler disease;Kanzaki disease;
19-25	Pompe disease;
19-26	Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;
19-27	Danon disease;
19-28	Free sialic acid storage disease;Salla disease;
19-29	Ceroid lipofuscinosis;
19-30	Fabry disease;
19-31	Cystinosis;
20	Adrenoleukodystrophy;
20-1	Adrenomyeloneuropathy;
21	Mitochondrial disease;
22	Moyamoya disease;Occlusive disease in circle of Willis;
23	Prion disease;
23-1	Creutzfeldt-Jakob disease;
23-2	Gerstmann-Straussler-Scheinker syndrome;
23-3	Fatal familial insomnia;
23-4	Kuru disease;
24	Subacute sclerosing panencephalitis;
25	Progressive multifocal leukoencephalopathy;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;
27	Idiopathic basal ganglia calcification;Idiopathic basal ganglia calcification disease;
27-1	Fahr disease;
27-2	Familial idiopathic basal ganglia calcification;FIBGC;
27-3	Primary familial brain calcification;PFBC;
28	Systemic amyloidosis;AL amyloidosis;
28-1	Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;
28-2	Familial amyloid polyneuropathy;
28-3	Senile systemic amylodosis;
29	Ullrich disease;Ullrich congenital muscular dystrophy;Collagen VI-related myopathy;
30	Distal myopathy;Distal muscular dystrophy;
30-1	Miyoshi myopathy;
30-2	Distal myopathy with rimmed vacuoles;
30-3	Oculopharyngodistal myopathy;
31	Bethlem myopathy;Beth Rem myopathy;
32	Autophagic vacuolar myopathy;
32-1	Danon disease;
32-2	X-linked myopathy with excessive autophagy;XMEA;
33	Schwartz-Jampel syndrome;Schwarz-Yanperu syndrome;Myotonic chondrodystrophy;Cartilage dystrophic myotonia;
33-1	Stuve-Wiedemann syndrome;Stüve-Wiedemann syndrome;
34	Neurofibromatosis;
34-1	von Recklinghausen disease;
35	Pemphigus;
36	Epidermolysis bullosa;
36-1	Kindler syndrome;
37	Generalised pustular psoriasis;Pustular psoriasis;
37-1	Acute generalised pustular psoriasis, von Zumbusch type;
37-2	Herpetic impetigo;
38	Stevens-Johnson syndrome;Mucocutaneous ocular syndrome;
39	Toxic epidermal necrolysis;Toxic epidermal necrosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;
43	Microscopic polyangiitis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;Churg-Strauss syndrome;
46	Malignant rheumatoid arthritis;Rheumatoid arthritis;Rheumatoid arthritis with vasculitis;
47	Buerger disease;Thromboangiitis obliterans;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;
49	Systemic lupus erythematosus;
50	Dermatomyositis;Polymyositis;
50-1	Dermatomyositis;
50-2	Polymyositis;
51	Systemic scleroderma;Systemic sclerosis;
52	Mixed connective tissue disease;
53	Sjogren syndrome;Sjögren syndrome;
54	Adult still disease;Adult-onset Stills disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;
57	Idiopathic dilated cardiomyopathy;
58	Hypertrophic cardiomyopathy;
59	Restricted cardiomyopathy;Restrictive cardiomyopathy;Constrictive cardiomyopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
61-1	Cold agglutinin disease;
61-2	Paroxysmal cold hemoglobinuria;
62	Paroxysmal nocturnal hemoglobinuria;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;
64-1	Upshaw-Schulman syndrome;
65	Primary immunodeficiency;
65-1	X-linked severe combined immunodeficiency;X-SCID;
65-2	Reticular dysgenesis;
65-3	Adenosine deaminase deficiency;
65-4	Omenn syndrome;
65-5	Purine nucleoside phosphorylase deficiency;
65-6	CD8 deficiency;
65-7	ZAP-70 deficiency;
65-8	MHC class I deficiency;
65-9	MHC class II deficiency;
65-10	Combined immunodeficiency;
65-11	Wiskott-Aldrich syndrome;
65-12	Telangiectasia ataxia;
65-13	Nijmegen breakage syndrome;
65-14	Bloom syndrome;
65-15	Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;
65-16	PMS2 deficiency;
65-17	Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;
65-18	Schimke syndrome;
65-19	Netherton syndrome;
65-20	Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;
65-21	Hyper-IgE syndrome;
65-22	Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;
65-23	Dyskeratosis congenita;
65-24	X-linked agammaglobulinaemia;
65-25	Common variable immunodeficiency;
65-26	Hyper-IgM syndrome;
65-27	Isolated IgG subclass deficiency;
65-28	Selective IgA deficiency;
65-29	Specific antibody production deficiency;
65-30	Infant transient hypogammaglobulinemia;
65-31	Chédiak-Higashi syndrome;Chediak-Higashi syndrome;
65-32	X-linked lymphoproliferative syndrome;
65-33	SAP deficiency;SH2D1A/SLAM-associated protein deficiency;
65-34	XIAP deficiency;X-linked inhibitor of apoptosis deficiency;
65-35	Autoimmune lymphoproliferative syndrome;ALPS;
65-36	Familial hemophagocytic syndrome;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;
65-37	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;
65-38	Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;
65-39	CD25 deficiency;
65-40	ITCH deficiency;
65-41	Primary phagocytic dysfunction;
65-42	Severe congenital neutropenia;
65-43	Cyclic neutropenia;
65-44	Hermanskyi-Pudlak syndrome type 2;Hermanskyi-Pudlak syndrome 2;
65-45	Griscelli syndrome type 2;Griscelli syndrome 2;
65-46	p14 deficiency;
65-47	Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;
65-48	Glycogen storage disease type Ib;
65-49	Leukocyte adhesion deficiency;
65-50	Shwachman-Diamond syndrome;
65-51	Chronic granulomatous disease;
65-52	Myeloperoxidase deficiency;
65-53	Mendelian susceptibility to mycobacterial disease;MSMD;
65-54	Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;
65-55	Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;
65-56	IMyD88 deficiency;
65-57	Chronic mucocutaneous candidiasis;
65-58	Epidermodysplasia verruciformis;
65-59	Herpes simplex encephalitis;
65-60	Caspase recruitment domain family member 9 deficiency;CARD9 deficiency;
65-61	Trypanosomiasis;
65-62	Congenital complement deficiency;
65-63	C1q deficiency;
65-64	CC1r deficiency;
65-65	CC1s deficiency;
65-66	CC2 deficiency;
65-67	CC3 deficiency;
65-68	CC4 deficiency;
65-69	CC5 deficiency;
65-70	CC6 deficiency;
65-71	CC7 deficiency;
65-72	CC8 deficiency;
65-73	CC9 deficiency;
65-74	Factor D deficiency;
65-75	Properdin deficiency;
65-76	Factor I deficiency;
65-77	Factor H deficiency;
65-78	MASP1 deficiency;
65-79	3MC syndrome;
65-80	Mannose-binding protein-associated serine protease 2 deficiency;MASP2 deficiency;
65-81	Immunodeficiency associated with FCN3 mutation;FCN3;
65-82	Hereditary angioedema type 1;Hereditary angioedema type I;C1 inhibitor deficiency type 1;C1 inhibitor deficiency type I;
65-83	Hereditary angioedema type 2;Hereditary angioedema type II;C1 inhibitor deficiency type 2;C1 inhibitor deficiency type II;
65-84	Hereditary angioedema type 3;Hereditary angioedema type III;C1 inhibitor deficiency type 3;C1 inhibitor deficiency type III;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney;
68	Ossification of the ligamentum flavum;Ossification of ligamentum flavum;
69	Ossification of posterior longitudinal ligament;
70	Spinal stenosis;Extensive spinal canal stenosis;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
72	Pituitary ADH secretion disorder;Inappropriate antidiuretic hormone secretion;Syndrome of inappropriate secretion of antidiuretic hormone;Inappropriate ADH syndrome;Syndrome of inappropriate ADH;
72-1	Central diabetes insipidus;
72-2	Syndrome of inappropriate secretion of ADH;SIADH;
73	TSH-secreting pituitary adenoma;Pituitary TSH secretion hyperthyroidism;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;
75	Cushing disease;Cushing;
76	Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;
76-1	Central precocious puberty;
76-2	Gonadotropin producing pituitary adenoma;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
78	Hypopituitarism;Anterior pituitary hypothyroidism;
78-1	Syndrome of abnormal secretion of gonadotropin;Hyposecretion of gonadotropins;
78-2	Adrenocorticotropic hormone deficiency;ACTH deficiency;
78-3	Thyroid-stimulating hormone deficiency;TSH deficiency;
78-4	Growth hormone deficiency;GH deficiency;
78-5	Prolactin deficiency;PRL deficiency;
79	Homozygous familial hypercholesterolemia;
80	Resistance to thyroid hormone;Syndrome of resistance to thyroid hormone;Thyroid hormone insensitivity syndrome;Refetoff syndrome;
81	Congenital adrenal hyperplasia;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
81-1	Congenital Lipoid Adrenal Hyperplasia;
81-2	3β-Hydroxysteroid Dehydrogenase Deficiency;
81-3	21-Hydroxylase deficiency;
81-4	11β-Hydroxylase deficiency;
81-5	17α-Hydroxylase deficiency;
81-6	Aldosterone synthase deficiency;
81-7	P450 oxidoreductase deficiency;
82	Congenital adrenal hypoplasia;
82-1	X-linked congenital adrenal hypoplasia;DAX-1 deficiency;
82-2	Congenital adrenal hypoplasia, autosomal recessive form;Steroidogenic factor-1 deficiency;SF-1 deficiency;SF-1/Ad4BP deficiency;
82-3	IMAGe syndrome;
83	Addison disease;Primary chronic adrenocortical insufficiency;
83-1	Autoimmune polyglandular syndrome;
83-2	Hypoparathyroidism-Addison-Monilia syndrome;HAM syndrome;
83-3	Schmidt syndrome;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;
85-1	Idiopathic pulmonary fibrosis;
85-2	Usual interstitial pneumonia;
85-3	Non-specific interstitial pneumonia;NSIP;
85-4	Cryptogenic organizing pneumonia;
85-5	Organizing pneumonia;
85-6	Desquamative interstitial pneumonia;
85-7	Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;
85-8	Lymphocytic interstitial pneumonia;
85-9	Acute interstitial pneumonia;
85-10	Diffuse alveolar damage;
86	Pulmonary arterial hypertension;
86-1	Eisenmenger Syndrome;
87	Pulmonary veno-occlusive disease;Pulmonary capillary hemangiomatosis;
87-1	Pulmonary veno-occlusive disease;PVOD;
87-2	Pulmonary capillary hemangiomatosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	Lymphangioleiomyomatosis;
90	Retinitis pigmentosa;
90-1	Rod dystrophy;
90-2	Cone-rod dystrophy;Rod-Cone Dystrophy;
91	Budd-Chiari syndrome;
92	Idiopathic portal hypertension;Banti syndrome;
93	Primary biliary cholangitis;Primary biliary cirrhosis;
94	Primary sclerosing cholangitis;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
98-1	Neonatal food-protein induced enterocolitis;Neonatal Food-protein induced enterocolitis syndrome;N-FPIES;
98-2	Eosinophilic esophagitis;
98-3	Eosinophilic gastroenteritis;
99	Chronic intestinal pseudo-obstruction;Chronic idiopathic pseudo-bowel obstruction;
100	Megacystis microcolon intestinal hypoperistalsis syndrome;Huge bladder short and small colon intestinal peristalsis deficiency;
101	Congenital isolated hypoganglionosis;Intestinal ganglion cells insignificant disease;
102	Rubinstein-Taybi syndrome;RSTS;
103	Cardio-facio-cutaneous syndrome;CFC syndrome;
104	Costello syndrome;
105	CHARGE syndrome;
106	Cryopyrin-associated periodic syndrome;Cryopyrin associated periodic fever syndrome;
106-1	Familial cold autoinflammatory syndrome;FCAS;
106-2	Mucke-Wells syndrome;
106-3	Chronic infantile neurologic cutaneous, and articular syndrome;CINCA syndrome;
106-4	Neonatal onset multisystem inflammatory disease;NOMID;
107	Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;
108	TNF receptor-associated periodic syndrome;
109	Atypical hemolytic uremic syndrome;
110	Blau syndrome;Early-onset sarcoidosis;Systemic granulomatous diseases;
111	Congenital myopathy;
111-1	Nemaline myopathy;
111-2	Central core disease;
111-3	Minicore myopathy;
111-4	Multi-minicore myopathy;
111-5	Myotubular myopathy;
111-6	Centronuclear myopathy;
111-7	Congenital fiber-type disproportion myopathy;
112	Marinesco-Sjogren syndrome;Hereditary cerebellar ataxia-childhood cataracts;
113	Muscular dystrophy;
113-1	Dystrophinopathies;
113-2	Duchenne muscular dystrophy;
113-3	Becker muscular dystrophy;
113-4	Limb-girdle muscular dystrophy;
113-5	Myotilinopathy;
113-6	Laminopathy;
113-7	Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;
113-8	Desminopathy;
113-9	Sarcoglycanopathy;
113-10	α-dystroglycanopathy;
113-11	Congenital muscular dystrophy;
113-12	Facioscapulohumeral muscular dystrophy;
113-13	Emery-Dreifuss muscular dystrophy;
113-14	Oculopharyngeal muscular dystrophy;
113-15	Fukuyama-type congenital muscular dystrophy;FCMD;
113-16	Walker-Warburg syndrome;
113-17	Muscle-eye-brain disease;
113-18	Myotonic dystrophy;
113-19	Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;
113-20	Merosin-deficient congenital muscular dystrophy;
113-21	Ullrich congenital muscular dystrophy;
113-22	Rigid spine syndrome;
113-23	Dynamin 2 deficient congenital muscular dystrophy;
113-24	Telesonin-deficient congenital muscular dystrophy;
113-25	Congenital muscular dystrophy with mitochondrial structural abnormalities;
114	Non-dystrophic myotonia syndrome;Non-dystrophic Myotonia;
114-1	Myotonia congenita;
114-2	Paramyotonia congenita;
114-3	Thomsen disease;Autosomal-dominant myotonia congenita;
114-4	Becker disease;Autosomal-recessive myotonia congenita;
114-5	Sodium channel myotonia;
115	Hereditary periodic paralysis;
115-1	Hereditary Hypokalemic Periodic Paralysis;
115-2	Hereditary Hyperkalemic Periodic Paralysis;
115-3	Andersen-Tawil syndrome;
116	Atopic myelitis;Idiopathic eosinophilic myelitis;
117	Syringomyelia;
118	Myelomeningocele;
118-1	Myeloschisis;
118-2	Myelocele;
118-3	Myelocystocele;Syringomyelocele;
119	Isaacs syndrome;
119-1	Morvan syndrome;Morvan fibrillary chorea;
119-2	Anti-VGKC antibody-associated limbic encephalitis;
120	Hereditary dystonia;
120-1	DYT1 dystonia;
120-2	DYT2 dystonia;
120-3	DYT3 dystonia;X-linked dystonia-parkinsonism;Lubag;
120-4	DYT4 dystonia;
120-5	DYT5 dystonia;Segawa syndrome;Dopa-responsive dystonia;
120-6	DYT6 dystonia;
120-7	DYT7 dystonia;
120-8	DYT8 dystonia;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1;
120-9	DYT9 dystonia;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;
120-10	DYT10 dystonia;Episodic kinesigenic dyskinesia 1;EKD1;
120-11	DYT11 dystonia;Myoclonus-dystonia syndrome;
120-12	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 dystonia;
120-14	DYT14 dystonia;Segawa syndrome;Dopa-responsive dystonia;
120-15	DYT15 dystonia;
120-16	DYT16 dystonia;
120-17	DYT17 dystonia;
120-18	DYT18 dystonia;Paroxysmal execise-induced dyskinesia;
120-19	DYT19 dystonia;Episodic kinesigenic dyskinesia 2;
120-20	DYT20 dystonia;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2;
120-21	Neurodegeneration with Brain Iron Accumulation 1;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Hallervorden-Spatz syndrome;Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration;
120-22	Neurodegeneration with Brain Iron Accumulation 2;Infantile neuroaxonal dystrophy;INAD;NBIA2;Karak syndrome;
120-23	Neurodegeneration with Brain Iron Accumulation 3;Neuroferritinopathy;NBIA3;
120-24	Neurodegeneration with Brain Iron Accumulation 4;Aceruloplasminemia;Hereditary ceruloplasmin deficiency;NBIA4;
120-25	Neurodegeneration with Brain Iron Accumulation 5;NBIA5;Beta-propeller protein-associated neurodegeneration;BPAN;
120-26	Fatty Acid Hydroxylase-associated neurodegeneration;Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35;
121	Neuroferritinopathy;
122	Superficial siderosis;Brain table hemosiderosis;
123	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	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	Hereditary diffuse leukoencephalopathy with spheroid;Hereditary diffuse leukoencephalopathy;
126	Perry syndrome;
127	Frontotemporal lobar degeneration;
127-1	Frontotemporal dementia;
127-2	Semantic dementia;
128	Bickerstaff brainstem encephalitis;
129	Acute encephalopathy with biphasic seizures and late reduced diffusion;Epilepticus type biphasic acute encphalopathy;Epilepticus type acute encphalopathy;
130	Congenital insensitivity to pain with anhydrosis;CIPA;
130-1	Hereditary sensory and autonomic neuropathy type IV;HSAN4;
130-2	Hereditary sensory and autonomic neuropathy type V;HSAN5;
131	Alexander disease;
132	Congenital supranuclear bulbar palsy;Congenital suprabulbar paresis;Worcester drought syndrome;Worster-Drought syndrome;
133	Moebius syndrome;Mobius syndrome;
134	Septo-optic dysplasia;De Morsier syndrome;
135	Aicardi syndrome;
136	Hemimegalencephaly;Unilateral megalencephaly;
137	Focal cortical dysplasia;
138	Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;
138-1	Classical Lissencephaly;
138-2	Ectopic gray matter;
138-3	Subcortical ectopic gray matter;
138-4	Periventricular nodular ectopic gray matter;
138-5	Polymicrogyria;
138-6	Cortical dysplasia with cobblestone appearance;
138-7	Schizencephaly;
138-8	Porencephaly;
138-9	Miller-Dieker syndrome;
138-10	Perisylvian polymicrogyria;
138-11	X-linked Lissencephaly;
139	Congenital cerebral hypomyelination;Congenital cerebral white matter aplasia;
139-1	Pelizaeus-Merzbacher disease;
139-2	Pelizaeus-Merzbacher-like disease 1;Pelizaeus-Merzbacher-like disease type 1;
139-3	Hypomyelination with atrophy of the basal ganglia and cerebellum;
139-4	18q-syndrome;Chromosome 18q deletion syndrome;
139-5	Allan-Herndon-Dudley syndrome;
139-6	Mitochondrial Hsp60 chaperonopathy;
139-7	Salla disease;
139-8	Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum;
139-9	Hypomyelination and congenital cataract;
139-10	Ataxia, delayed dentition, and hypomyelination;
139-11	Peripheral demyelinating neuropathy;
139-12	Central dysmyelinating leukodystrophy;
139-13	Waardenburg syndrome;
139-14	Hirschsprung disease;
140	Dorabe syndrome;Dravet syndrome;
141	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	Myoclonic absence epilepsy;
143	Epilepsy with myoclonic-atonic seizure;Epilepsy with myoclonic cataplexy;
144	Lennox-Gastaut syndrome;
145	West syndrome;Infantile spasm;
146	Ohtahara syndrome;Early infantile epileptic encephalopathy with suppression burst;
147	Early myoclonic encephalopathy;
148	Epilepsy of infancy with migrating focal seizure;Infant epilepsy with migratory focus seizure;Migrating partial seizures in infancy;Infant epilepsy;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
150	Ring chromosome 20 epilepsy syndrome;Ring chromosome 20 syndrome;
151	Rasmussen encephalitis;
152	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	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	Epilepsy with continuous spikes and waves during slow sleep;Epileptic encephalopathy with continuous spike-and-wave during sleep;
155	Acquired aphasia with convulsive disorder;Landau-Kleffner syndrome;
156	Rett syndrome;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
159	Xeroderma pigmentosum;
160	Congenital ichthyosis;
160-1	Keratinopathic ichthyosis;
160-2	Epidermolytic ichthyosis;
160-3	Superficial epidermolytic ichthyosis;
160-4	Harlequin ichthyosis;
160-5	Autosomal recessive congenital ichthyosis;
160-6	Congenital Ichthyosiform Erythroderma;
160-7	Foliate ichthyosis;
160-8	Ichthyosis syndrome;
160-9	Netherton syndrome;
160-10	Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;
160-11	Keratitis-ichtyosis-deafness syndrome;
160-12	Dorfman-Chanarin syndrome;
160-13	Neutral lipid storage disease;NLSD;
160-14	Multiple sulfatase deficiency;Austin disease;
160-15	Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;
160-16	Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;
160-17	Trichothiodystrophy;
160-18	Follicular ichthyosis;
160-19	Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;
160-20	Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;
161	Familial benign chronic pemphigus;Benign familial pemphigus;Hailey-Hailey disease;
162	Pemphigoid;
162-1	Epidermolysis bullosa acquisita;
163	Idiopathic pure sudomotor failure;Idiopathic acquired systemic anhidrosis;Acquired idiopathic generalized anhidrosis;AIGA;
163-1	Idiopathic segmental anhidrosis;
163-2	Idiopathic pure sudomotor failure;IPSF;
163-3	Sweat gland failure;
164	Oculocutaneous albinism;
164-1	Hermansky-Pudlak syndrome;
164-2	Chediak-Higashi syndrome;
164-3	Griscelli syndrome;
165	Pachydermoperiostosis;
166	Pseudoxanthoma elasticum;
167	Marfan syndrome;
168	Ehlers-Danlos syndrome;
169	Menkes disease;
170	Occipital horn syndrome;
171	Wilson disease;
172	Hypophosphatasia;
173	VATER syndrome;VATER association;VACTERL association;
174	Nasu-Hakola disease;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;PLOSL;
175	Weaver syndrome;
176	Coffin-Lowry syndrome;
177	Joubert syndrome related disorder;Joubert syndrome and related disorder;Joubert syndrome;JSRD;
177-1	Arima syndrome;
177-2	Senior-Loken syndrome;Senior-Løken syndrome;
177-3	COACH syndrome;
177-4	Orofaciodigital syndrome;
178	Mowat-Wilson syndrome;
179	Williams syndrome;
180	ATR-X syndrome;Alpha-thalassemia mental retardation syndrome;
181	Crouzon syndrome;
182	Apert syndrome;
183	Pfeiffer syndrome;
184	Antley-Bixler syndrome;
185	Coffin-Siris syndrome;
186	Rothmund-Thomson syndrome;
186-1	RAPADILINO syndrome;
186-2	Baller-Gerold syndrome;
187	Kabuki syndrome;
188	Polysplenia syndrome;
189	Asplenia syndrome;
190	Branchio-oto-renal syndrome;BOR syndrome;
191	Werner syndrome;
192	Cockayne syndrome;
193	Prader-Willi syndrome;
194	Sotos syndrome;
195	Noonan syndrome;
196	Young-Simpson syndrome;
197	1p36 deletion syndrome;
198	4p deletion syndrome;4p-syndrome;
199	5p deletion syndrome;5p-syndrome;
200	Paternal uniparental disomy of chromosome 14;No. 14 chromosome father disomy syndrome;Kagami-Ogata syndrome;
201	Angelman syndrome;
202	Smith-Magenis syndrome;
203	22q11.2 deletion syndrome;
204	Emanuel syndrome;Derivative 22 syndrome;
205	Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;
206	Fragile X syndrome;
207	Persistent truncus arteriosus;
208	Corrected transposition of great arteries;
209	Complete transposition of great vessel;Complete transposition of great arteries;
210	Single ventricle heart defect;Complete TGA;Univentricular heart;Single ventricular circulation syndrome;
211	Hypoplastic left heart syndrome;Single ventricular circulation syndrome;
212	Tricuspid atresia;Single ventricular circulation syndrome;
213	Pulmonary atresia without ventricular septum defect;Pulmonary atresia with intact ventricular septum;Pulmonary atresia;Single ventricular circulation syndrome;
214	Pulmonary atresia with ventricular septum defect;Pulmonary atresia with ventricular septal defect;Pulmonary atresia;Tetralogy of Fallot with severe pulmonary stenosis;
215	Tetralogy of Fallot;Fallot tetralogy;
216	Double outlet right ventricle;
217	Ebstein disease;Ebstein malformation;
218	Alport syndrome;
219	Galloway-Mowat syndrome;
220	Rapidly progressive glomerulonephritis;
221	Anti-glomerular basement membrane disease;
222	Primary nephrotic syndrome;
222-1	Minimal change nephrotic syndrome;MCNS;
222-2	Membranous nephropathy;
222-3	Focal segmental glomerulosclerosis;FSGS;
222-4	Membranoproliferative glomerulonephritis;MPGN;
223	Primary membranoproliferative glomerulonephritis;
223-1	Dense deposit disease;
224	Purpura nephritis;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
229	Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;
229-1	Autoimmune pulmonary alveolar proteinosis;
229-2	Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;
230	Alveolar hypoventilation syndrome;Hypoventilation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
232	Carney complex;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;Zellweger syndrome;
234-1	Peroxisome biogenesis disorder;PEX gene disorder;
234-2	Zellweger syndrome;
234-3	Neonatal adrenoleukodystrophy;
234-4	Infantile Refsum disease;
234-5	Rhizomelic chondrodysplasia punctata type 1;RCDP type 1;RCDP1;
234-6	Peroxisomal beta-oxidation enzyme deficiency;
234-7	Acyl-CoA oxidase deficiency;AOX deficiency;
234-8	D-Bifunctional protein deficiency;DBP deficiency;
234-9	Sterol carrier protein X deficiency;SCPx deficiency;
234-10	2-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency;AMACR deficiency;
234-11	Refsum disease;
234-12	Plasmalogen biosynthesis enzyme deficiency;
234-13	Rhizomelic chondrodysplasia punctata type 2;RCDP type 2;RCDP2;
234-14	Rhizomelic chondrodysplasia punctata type 3;RCDP type 3;RCDP3;
234-15	Primary hyperoxaluria type 1;
234-16	Acatalasemia;Acatalasia;
234-17	Contiguous ABCD1/DXS1357E deletion syndrome;CADDS;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
236	Pseudohypoparathyroidism;
237	ACTH unresponsiveness;Adrenocorticotropic hormone unresponsiveness;Adrenocorticotropic hormone insensitivity;
237-1	Triple A syndrome;Allgrove syndrome;
238	Vitamin D-resistant rickets;Vitamin D-resistant osteomalacia;VDRR;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;
239	Vitamin D-dependent rickets;Vitamin D-dependent osteomalacia;VDDR;
240	Phenylketonuria;
240-1	Phenylalanine hydroxylase deficiency;PAH deficiency;
240-2	Tetrahydrobiopterin deficiency;BH4 deficiency;
240-3	BH4 reactive hyper pheemia;
241	Hypertyrosinemia type I;Tyrosinemia type I;Tyrosinemia I;Hereditary tyrosinemia, Type I;
242	Hypertyrosinemia type II;Tyrosinemia type II;Tyrosinemia II;Hereditary tyrosinemia, Type II;
243	Hypertyrosinemia type III;High tyrosinemia;Tyrosinemia type III;Tyrosinemia III;Hereditary tyrosinemia, Type III;
244	Maple syrup urine disease;MSUD;
245	Propionic acidemia;
246	Methylmalonic acidemia;
247	Isovaleric acidemia;Isovaleric aciduria;Isovaleric acid CoA dehydrogenase deficiency;
248	Glucose transporter type 1 deficiency;GLUT1 deficiency;
249	Glutaric acidemia type 1;
250	Glutaric acidemia type 2;Multiple acyl-CoA dehydrogenase deficiency;Multiple acyl-CoA dehydrogenation deficiency;MADD;
251	Urea cycle disorder;
251-1	N-acetylglutamate synthase deficiency;NAGS deficiency;
251-2	Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency;
251-3	Ornithine transcarbamylase deficiency;OTC deficiency;
251-4	Classic citrullinemia;Citrullinemia type I;
251-5	Argininosuccinic aciduria;
251-6	Argininemia;
251-7	Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome;
252	Lysinuric protein intolerance;
253	Congenital folate malabsorption;Hereditary folate malabsorption;Folate malabsorption;
254	Porphyria;
254-1	Acute intermittent porphyria;
254-2	Hereditary coproporphyria;
254-3	Variegate porphyria;
254-4	Erythropoietic protoporphyria;
254-5	Porphyria cutanea tarda;
254-6	Congenital erythropoietic porphyria;
254-7	X-linked dominant protoporphyria;
254-8	Hepatoerythropoietic porphyria;
255	Multiple carboxylase deficiency;
255-1	Holocarboxylase synthetase deficiency;HCS deficiency;
255-2	Biotinidase deficiency;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
256-1	Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;
256-2	Glycogen storage disease type II;GSDII;Pompe disease;Alpha-1,4-glucosidase acid deficiency;
256-3	Glycogen storage disease type III;GSDIII;Cori disease;Glycogen debranching enzyme deficiency;
256-4	Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;
256-5	Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;
256-6	Glycogen storage disease type VII;GSDVII;Tarui disease;Phosphofructokinase deficiency;PFK deficiency;
256-7	Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;
256-8	Phosphoglycerate kinase deficiency;PGK deficiency;
256-9	Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;
256-10	Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;
256-11	Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;
256-12	Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;
256-13	Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;
256-14	Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency;
257	Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;
257-1	Glycogen storage disease type I;GSDI;von Gierke disease;Glucose-6-phosphatase deficiency;G6Pase deficiency;
257-2	Glycogen storage disease type III;GSDIII;Cori disease;Glycogen debranching enzyme deficiency;
257-3	Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Adult polyglucosan body disease;
257-4	Glycogen storage disease type VI;GSDVI;Hers disease;Hepatic phosphorylase deficiency;Liver phosphorylase deficiency;
257-5	Glycogen storage disease type IX;GSDIX;Phosphorylase kinase deficiency;
258	Galactose-1-phosphate uridylyltransferase deficiency;Galactose-1-phosphate uridyltransferase deficiency;Galactosemia type 1;GALT deficiency;
259	Lecithin-cholesterol acyltransferase deficiency;LCAT deficiency;
259-1	Fish-eye disease;
260	Sitosterolemia;
261	Tangier disease;
262	Primary hyperchylomicronemia;
263	Cerebrotendinous xanthomatosis;27-hydroxylase deficiency;CYP27 deficiency;
264	Abetalipoproteinemia;Microsomal triglyceride transfer protein deficiency;MTP deficiency;
265	Lipodystrophy;
265-1	Generalized congenital lipodystrophy;Berardinelli-Seip syndrome;
265-2	Familial partial lipodystrophy;Dunnigan-type familial partial lipodystrophy;Kobbering-type familial partial lipodystrophy;
265-3	Acquired generalized lipodystrophy;Lawrence syndrome;
265-4	Partial acquired lipodystrophy;Barraquer-Simons syndrome;
266	Familial mediterranean fever;
267	Hyper-IgD syndrome;Mevalonate kinase deffiency;Hyperimmunoglobulinemia D and periodic fever syndrome;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
272	Fibrodysplasia ossificans progressiva;
273	Congenital scoliosis with rib anomaly;Congenital scoliosis;
274	Osteogenesis Imperfecta;
275	Thanatophoric dysplasia;
276	Achondroplasia;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;
282	Congenital dyserythropoietic anemia;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
287	Epstein syndrome;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
288-1	Factor XIII deficiency;
288-2	Factor VIII deficiency;Acquired hemophilia A;
288-3	von Willebrand Disease;
288-4	Factor V deficiency;
289	Cronkhite-Canada syndrome;
290	Chronic nonspecific multiple ulcers of the small intestine;Nonspecific multiple ulcers in the small intestine;
291	Hirschsprung disease, entire colon type;Hirschsprung disease, small intestine type;Hirschsprung disease;Hirschprung disease;Hirschsprung disease associated entercolitis;
292	Cloacal exstrophy;Vesicointestinal fissure;
293	Persistent cloaca;
294	Congenital diaphragmatic hernia;
295	Infant huge hepatic hemangioma;Infant giant liver hemangioma;
296	Biliary atresia;
297	Alagille syndrome;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;
300	IgG4-related disease;
300-1	Autoimmune pancreatitis;
300-2	IgG4-related sclerosing cholangitis;
300-3	IgG4-related lacrimal gland, orbital, and salivary gland lesions;
300-4	IgG4-related kidney disease;
301	Macular dystrophy;
301-1	Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;
301-2	Stargardt disease;
301-3	Occult macular dystrophy;
301-4	Cone dystrophy;Cone rod dystrophy;
301-5	X-linked juvenile retinoschisis;
301-6	Central areolar choroidal dystrophy;
302	Leber hereditary optic neuropathy;
303	Usher syndrome;
304	Juvenile-onset bilateral sensorineural hearing loss;
305	Delayed endolymphatic hydrops;
306	Eosinophilic sinusitis;
307	Canavan disease;
308	Progressive leukoencephalopathy;
308-1	Megalencephalic leukoencephalopathy with subcortical cyst;
308-2	Leukoencephalopathy with vanishing white matter;
308-3	Leukoencephalopathy, progressive, with ovarian failure;
309	Progressive myoclonus epilepsy;
309-1	Unverricht-Lundborg disease;
309-2	Lafora disease;
309-3	Benign adult familial myoclonus epilepsy;BAFME;
310	Congenital anomalies syndrome;
310-1	Partial trisomy 1q syndrome;Trisomy 1q;
310-2	9q34 deletion syndrome;
310-3	Cornelia de Lange syndrome;CdLS;
310-4	Smith-Lemli-Opitz syndrome;SLO syndrome;
311	Congenital tricuspid stenosis;
312	Congenital mitral stenosis;
313	Congenital pulmonary vein stenosis;
314	Vascular sling;
315	Nail-Patella syndrome;LMX1B-associated nephropathy;
315-1	Nail-Patella syndrome;
315-2	LMX1B-associated nephropathy;
316	Carnitine cycle disorder;
316-1	Carnitine palmitoyltransferase I deficiency;CPT1 deficiency;
316-2	Carnitine palmitoyltransferase II deficiency;CPT2 deficiency;
316-3	Carnitine-acylcarnitine translocase deficiency;CACT deficiency;
316-4	Carnitine transporter deficiency;OCTN-2 deficiency;
317	Trifunctional protein deficiency;
318	Citrin deficiency;
318-1	Neonatal intrahepatic cholestasis caused by citrin deficiency;NICCD;
318-2	Adult-onset type II citrullinemia;CTLN2;
319	Sepiapterin reductase deficiency;
320	Inherited glycosylphosphatidylinositol deficiency;Congenital glycosylphosphatidylinositol deficiency;
321	Non-ketotic hyperglycinemia;
322	Beta-ketothiolase deficiency;
323	Aromatic L-amino acid decarboxylase deficiency;
324	Methylglutaconic aciduria;
324-1	3-methylglutaconyl-CoA hydratase deficiency;
324-2	Barth syndrome;
324-3	Costeff syndrome;
324-4	Mitochondrial respiratory chain disorder;
324-5	Dilated cardiomyopathy with ataxia syndrome;DCMA syndrome;
325	Hereditary autoinflammatory syndrome;
325-1	NLRC4 abnormality;
325-2	Adenosine deaminase 2 deficiency;ADA2 deficiency;
325-3	Aicardi-Goutieres syndrome;
325-4	A20 haploinsufficiency;
326	Osteopetrosis;
327	Idiopathic thrombosis;
328	Anterior segment dysgenesis;
329	Aniridia;
330	Congenital tracheal stenosis;Congenital subglottic stenosis;
330-1	Congenital tracheal stenosis;
330-2	Congenital subglottic stenosis;
331	Idiopathic multicentric castleman disease;Castleman disease;
332	Gelatinous drop-like corneal dystrophy;
333	Hutchinson-Gilford syndrome;Hutchinson-Gilford progeria syndrome;HGPS;