Level/ Type |
Code |
Display Name |
Code System |
0‑L |
5
|
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
ORPHAnet |
0‑L |
6
|
3-methylcrotonyl-CoA carboxylase deficiency
|
ORPHAnet |
0‑L |
7
|
3C syndrome
|
ORPHAnet |
0‑L |
8
|
47,XYY syndrome
|
ORPHAnet |
0‑L |
9
|
Tetrasomy X
|
ORPHAnet |
0‑L |
10
|
48,XXYY syndrome
|
ORPHAnet |
0‑L |
11
|
Pentasomy X
|
ORPHAnet |
0‑L |
13
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
ORPHAnet |
0‑L |
14
|
Abetalipoproteinemia
|
ORPHAnet |
0‑L |
15
|
Achondroplasia
|
ORPHAnet |
0‑L |
16
|
Blue cone monochromatism
|
ORPHAnet |
0‑L |
17
|
Fatal infantile lactic acidosis with methylmalonic aciduria
|
ORPHAnet |
0‑L |
18
|
Distal renal tubular acidosis
|
ORPHAnet |
0‑L |
20
|
3-hydroxy-3-methylglutaric aciduria
|
ORPHAnet |
0‑L |
22
|
Succinic semialdehyde dehydrogenase deficiency
|
ORPHAnet |
0‑L |
23
|
Argininosuccinic aciduria
|
ORPHAnet |
0‑L |
24
|
Fumaric aciduria
|
ORPHAnet |
0‑L |
25
|
Glutaryl-CoA dehydrogenase deficiency
|
ORPHAnet |
0‑L |
26
|
Methylmalonic acidemia with homocystinuria
|
ORPHAnet |
0‑L |
27
|
Vitamin B12-unresponsive methylmalonic acidemia
|
ORPHAnet |
0‑L |
28
|
Vitamin B12-responsive methylmalonic acidemia
|
ORPHAnet |
0‑L |
29
|
Mevalonic aciduria
|
ORPHAnet |
0‑L |
30
|
Hereditary orotic aciduria
|
ORPHAnet |
0‑L |
31
|
Oxoglutaric aciduria
|
ORPHAnet |
0‑L |
32
|
Glutathione synthetase deficiency
|
ORPHAnet |
0‑L |
33
|
Isovaleric acidemia
|
ORPHAnet |
0‑L |
35
|
Propionic acidemia
|
ORPHAnet |
0‑L |
36
|
Acrocallosal syndrome
|
ORPHAnet |
0‑L |
37
|
Acrodermatitis enteropathica
|
ORPHAnet |
0‑L |
38
|
Acrokeratoelastoidosis of Costa
|
ORPHAnet |
0‑L |
39
|
Acromelanosis
|
ORPHAnet |
0‑L |
40
|
Acromesomelic dysplasia, Maroteaux type
|
ORPHAnet |
0‑L |
41
|
Dyschromatosis symmetrica hereditaria
|
ORPHAnet |
0‑L |
42
|
Medium chain acyl-CoA dehydrogenase deficiency
|
ORPHAnet |
0‑L |
43
|
X-linked adrenoleukodystrophy
|
ORPHAnet |
0‑L |
44
|
Neonatal adrenoleukodystrophy
|
ORPHAnet |
0‑L |
45
|
Adenosine monophosphate deaminase deficiency
|
ORPHAnet |
0‑L |
46
|
Adenylosuccinate lyase deficiency
|
ORPHAnet |
0‑L |
47
|
X-linked agammaglobulinemia
|
ORPHAnet |
0‑L |
48
|
Congenital bilateral absence of vas deferens
|
ORPHAnet |
0‑L |
49
|
Penile agenesis
|
ORPHAnet |
0‑L |
50
|
Aicardi syndrome
|
ORPHAnet |
0‑L |
51
|
Aicardi-Goutières syndrome
|
ORPHAnet |
0‑L |
52
|
Alagille syndrome
|
ORPHAnet |
0‑L |
53
|
Albers-Schönberg osteopetrosis
|
ORPHAnet |
0‑L |
54
|
X-linked recessive ocular albinism
|
ORPHAnet |
0‑L |
56
|
Alkaptonuria
|
ORPHAnet |
0‑L |
57
|
Glycogen storage disease due to aldolase A deficiency
|
ORPHAnet |
0‑L |
58
|
Alexander disease
|
ORPHAnet |
0‑L |
59
|
Allan-Herndon-Dudley syndrome
|
ORPHAnet |
0‑L |
60
|
Alpha-1-antitrypsin deficiency
|
ORPHAnet |
0‑L |
61
|
Alpha-mannosidosis
|
ORPHAnet |
0‑L |
62
|
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
|
ORPHAnet |
0‑L |
63
|
Alport syndrome
|
ORPHAnet |
0‑L |
64
|
Alström syndrome
|
ORPHAnet |
0‑L |
65
|
Leber congenital amaurosis
|
ORPHAnet |
0‑L |
67
|
Amoebiasis due to Entamoeba histolytica
|
ORPHAnet |
0‑L |
68
|
Amoebiasis due to free-living amoebae
|
ORPHAnet |
0‑L |
70
|
Proximal spinal muscular atrophy
|
ORPHAnet |
0‑L |
71
|
Chylomicron retention disease
|
ORPHAnet |
0‑L |
72
|
Angelman syndrome
|
ORPHAnet |
0‑L |
73
|
Gorham-Stout disease
|
ORPHAnet |
0‑L |
74
|
Angiostrongyliasis
|
ORPHAnet |
0‑L |
76
|
Strongyloidiasis
|
ORPHAnet |
0‑L |
78
|
Ankylostomiasis
|
ORPHAnet |
0‑L |
79
|
Congenital alpha2-antiplasmin deficiency
|
ORPHAnet |
0‑L |
80
|
Antiphospholipid syndrome
|
ORPHAnet |
0‑L |
81
|
Antisynthetase syndrome
|
ORPHAnet |
0‑L |
82
|
Hereditary thrombophilia due to congenital antithrombin deficiency
|
ORPHAnet |
0‑L |
83
|
Antley-Bixler syndrome
|
ORPHAnet |
0‑L |
84
|
Fanconi anemia
|
ORPHAnet |
0‑L |
86
|
Familial abdominal aortic aneurysm
|
ORPHAnet |
0‑L |
87
|
Apert syndrome
|
ORPHAnet |
0‑L |
88
|
Idiopathic aplastic anemia
|
ORPHAnet |
0‑L |
90
|
Argininemia
|
ORPHAnet |
0‑L |
91
|
Aromatase deficiency
|
ORPHAnet |
0‑L |
93
|
Aspartylglucosaminuria
|
ORPHAnet |
0‑L |
95
|
Friedreich ataxia
|
ORPHAnet |
0‑L |
96
|
Ataxia with vitamin E deficiency
|
ORPHAnet |
0‑L |
97
|
Familial paroxysmal ataxia
|
ORPHAnet |
0‑L |
98
|
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
|
ORPHAnet |
0‑L |
100
|
Ataxia-telangiectasia
|
ORPHAnet |
0‑L |
101
|
Dentatorubral pallidoluysian atrophy
|
ORPHAnet |
0‑L |
102
|
Multiple system atrophy
|
ORPHAnet |
0‑L |
104
|
Leber hereditary optic neuropathy
|
ORPHAnet |
0‑L |
105
|
Atresia of urethra
|
ORPHAnet |
0‑L |
107
|
BOR syndrome
|
ORPHAnet |
0‑L |
108
|
Babesiosis
|
ORPHAnet |
0‑L |
109
|
Bannayan-Riley-Ruvalcaba syndrome
|
ORPHAnet |
0‑L |
110
|
Bardet-Biedl syndrome
|
ORPHAnet |
0‑L |
111
|
Barth syndrome
|
ORPHAnet |
0‑L |
112
|
Bartter syndrome
|
ORPHAnet |
0‑L |
113
|
Bazex-Dupré-Christol syndrome
|
ORPHAnet |
0‑L |
114
|
Auriculoosteodysplasia
|
ORPHAnet |
0‑L |
115
|
Congenital contractural arachnodactyly
|
ORPHAnet |
0‑L |
116
|
Beckwith-Wiedemann syndrome
|
ORPHAnet |
0‑L |
117
|
Behçet disease
|
ORPHAnet |
0‑L |
118
|
Beta-mannosidosis
|
ORPHAnet |
0‑L |
119
|
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
|
ORPHAnet |
0‑L |
122
|
Birt-Hogg-Dubé syndrome
|
ORPHAnet |
0‑L |
123
|
Björnstad syndrome
|
ORPHAnet |
0‑L |
124
|
Blackfan-Diamond anemia
|
ORPHAnet |
0‑L |
125
|
Bloom syndrome
|
ORPHAnet |
0‑L |
126
|
Blepharophimosis-ptosis-epicanthus inversus syndrome
|
ORPHAnet |
0‑L |
127
|
Borjeson-Forssman-Lehmann syndrome
|
ORPHAnet |
0‑L |
128
|
Diphyllobothriasis
|
ORPHAnet |
0‑L |
129
|
Pseudopelade of Brocq
|
ORPHAnet |
0‑L |
130
|
Brugada syndrome
|
ORPHAnet |
0‑L |
131
|
Budd-Chiari syndrome
|
ORPHAnet |
0‑L |
132
|
Butyrylcholinesterase deficiency
|
ORPHAnet |
0‑L |
133
|
Chronic beryllium disease
|
ORPHAnet |
0‑L |
134
|
Beta-ketothiolase deficiency
|
ORPHAnet |
0‑L |
135
|
CACH syndrome
|
ORPHAnet |
0‑L |
136
|
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
|
ORPHAnet |
0‑L |
138
|
CHARGE syndrome
|
ORPHAnet |
0‑L |
139
|
CHILD syndrome
|
ORPHAnet |
0‑L |
140
|
Campomelic dysplasia
|
ORPHAnet |
0‑L |
141
|
Canavan disease
|
ORPHAnet |
0‑L |
142
|
Anaplastic thyroid carcinoma
|
ORPHAnet |
0‑L |
143
|
Parathyroid carcinoma
|
ORPHAnet |
0‑L |
144
|
Lynch syndrome
|
ORPHAnet |
0‑L |
145
|
Hereditary breast and ovarian cancer syndrome
|
ORPHAnet |
0‑L |
146
|
Differentiated thyroid carcinoma
|
ORPHAnet |
0‑L |
147
|
Carbamoyl-phosphate synthetase 1 deficiency
|
ORPHAnet |
0‑L |
150
|
Nasopharyngeal carcinoma
|
ORPHAnet |
0‑L |
154
|
Familial isolated dilated cardiomyopathy
|
ORPHAnet |
0‑L |
156
|
Carnitine palmitoyl transferase 1A deficiency
|
ORPHAnet |
0‑L |
157
|
Carnitine palmitoyltransferase II deficiency
|
ORPHAnet |
0‑L |
158
|
Systemic primary carnitine deficiency
|
ORPHAnet |
0‑L |
159
|
Carnitine-acylcarnitine translocase deficiency
|
ORPHAnet |
0‑L |
160
|
Castleman disease
|
ORPHAnet |
0‑L |
162
|
Cataract-glaucoma syndrome
|
ORPHAnet |
0‑L |
163
|
Hereditary hyperferritinemia-cataract syndrome
|
ORPHAnet |
0‑L |
167
|
Chédiak-Higashi syndrome
|
ORPHAnet |
0‑L |
168
|
Loose anagen syndrome
|
ORPHAnet |
0‑L |
169
|
Ringed hair disease
|
ORPHAnet |
0‑L |
170
|
Woolly hair
|
ORPHAnet |
0‑L |
171
|
Primary sclerosing cholangitis
|
ORPHAnet |
0‑L |
172
|
Progressive familial intrahepatic cholestasis
|
ORPHAnet |
0‑L |
173
|
Cholera
|
ORPHAnet |
0‑L |
174
|
Metaphyseal chondrodysplasia, Schmid type
|
ORPHAnet |
0‑L |
175
|
Cartilage-hair hypoplasia
|
ORPHAnet |
0‑L |
177
|
Rhizomelic chondrodysplasia punctata
|
ORPHAnet |
0‑L |
178
|
Chordoma
|
ORPHAnet |
0‑L |
179
|
Birdshot chorioretinopathy
|
ORPHAnet |
0‑L |
180
|
Choroideremia
|
ORPHAnet |
0‑L |
181
|
X-linked hypohidrotic ectodermal dysplasia
|
ORPHAnet |
0‑L |
182
|
Chromomycosis
|
ORPHAnet |
0‑L |
183
|
Eosinophilic granulomatosis with polyangiitis
|
ORPHAnet |
0‑L |
184
|
Cherubism
|
ORPHAnet |
0‑L |
185
|
Scimitar syndrome
|
ORPHAnet |
0‑L |
186
|
Primary biliary cholangitis
|
ORPHAnet |
0‑L |
188
|
Systemic capillary leak syndrome
|
ORPHAnet |
0‑L |
189
|
Hidrotic ectodermal dysplasia
|
ORPHAnet |
0‑L |
190
|
Coats disease
|
ORPHAnet |
0‑L |
191
|
Cockayne syndrome
|
ORPHAnet |
0‑L |
192
|
Coffin-Lowry syndrome
|
ORPHAnet |
0‑L |
193
|
Cohen syndrome
|
ORPHAnet |
0‑L |
195
|
Cat-eye syndrome
|
ORPHAnet |
0‑L |
198
|
Occipital horn syndrome
|
ORPHAnet |
0‑L |
199
|
Cornelia de Lange syndrome
|
ORPHAnet |
0‑L |
200
|
Isolated corpus callosum agenesis
|
ORPHAnet |
0‑L |
201
|
Cowden syndrome
|
ORPHAnet |
0‑L |
202
|
Crandall syndrome
|
ORPHAnet |
0‑L |
204
|
Sporadic Creutzfeldt-Jakob disease
|
ORPHAnet |
0‑L |
205
|
Crigler-Najjar syndrome
|
ORPHAnet |
0‑L |
207
|
Crouzon syndrome
|
ORPHAnet |
0‑L |
210
|
Cyclosporosis
|
ORPHAnet |
0‑L |
211
|
Familial cylindromatosis
|
ORPHAnet |
0‑L |
212
|
Cystathioninuria
|
ORPHAnet |
0‑L |
213
|
Cystinosis
|
ORPHAnet |
0‑L |
214
|
Cystinuria
|
ORPHAnet |
0‑L |
215
|
Congenital stationary night blindness
|
ORPHAnet |
0‑L |
217
|
Isolated Dandy-Walker malformation
|
ORPHAnet |
0‑L |
218
|
Darier disease
|
ORPHAnet |
0‑L |
219
|
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
|
ORPHAnet |
0‑L |
220
|
Denys-Drash syndrome
|
ORPHAnet |
0‑L |
221
|
Dermatomyositis
|
ORPHAnet |
0‑L |
222
|
Erosive pustular dermatosis of the scalp
|
ORPHAnet |
0‑L |
223
|
Nephrogenic diabetes insipidus
|
ORPHAnet |
0‑L |
225
|
Maternally-inherited diabetes and deafness
|
ORPHAnet |
0‑L |
226
|
Dihydropteridine reductase deficiency
|
ORPHAnet |
0‑L |
227
|
Diphallia
|
ORPHAnet |
0‑L |
229
|
Familial aortic dissection
|
ORPHAnet |
0‑L |
230
|
Dopamine beta-hydroxylase deficiency
|
ORPHAnet |
0‑L |
231
|
Dracunculiasis
|
ORPHAnet |
0‑L |
232
|
Sickle cell anemia
|
ORPHAnet |
0‑L |
233
|
Duane retraction syndrome
|
ORPHAnet |
0‑L |
234
|
Dubin-Johnson syndrome
|
ORPHAnet |
0‑L |
235
|
Dubowitz syndrome
|
ORPHAnet |
0‑L |
236
|
Trisomy 9p
|
ORPHAnet |
0‑L |
237
|
Duplication of urethra
|
ORPHAnet |
0‑L |
238
|
Digestive duplication
|
ORPHAnet |
0‑L |
239
|
Dyggve-Melchior-Clausen disease
|
ORPHAnet |
0‑L |
240
|
Léri-Weill dyschondrosteosis
|
ORPHAnet |
0‑L |
241
|
Dyschromatosis universalis hereditaria
|
ORPHAnet |
0‑L |
242
|
46,XY complete gonadal dysgenesis
|
ORPHAnet |
0‑L |
243
|
46,XX gonadal dysgenesis
|
ORPHAnet |
0‑L |
244
|
Primary ciliary dyskinesia
|
ORPHAnet |
0‑L |
245
|
Nager syndrome
|
ORPHAnet |
0‑L |
246
|
Postaxial acrofacial dysostosis
|
ORPHAnet |
0‑L |
248
|
Autosomal recessive hypohidrotic ectodermal dysplasia
|
ORPHAnet |
0‑L |
249
|
Fibrous dysplasia of bone
|
ORPHAnet |
0‑L |
256
|
Early-onset generalized limb-onset dystonia
|
ORPHAnet |
0‑L |
257
|
Epidermolysis bullosa simplex with muscular dystrophy
|
ORPHAnet |
0‑L |
258
|
Laminin subunit alpha 2-related congenital muscular dystrophy
|
ORPHAnet |
0‑L |
261
|
Emery-Dreifuss muscular dystrophy
|
ORPHAnet |
0‑L |
266
|
Autosomal dominant limb-girdle muscular dystrophy type 1A
|
ORPHAnet |
0‑L |
267
|
Calpain-3-related limb-girdle muscular dystrophy R1
|
ORPHAnet |
0‑L |
268
|
Dysferlin-related limb-girdle muscular dystrophy R2
|
ORPHAnet |
0‑L |
269
|
Facioscapulohumeral dystrophy
|
ORPHAnet |
0‑L |
270
|
Oculopharyngeal muscular dystrophy
|
ORPHAnet |
0‑L |
272
|
Congenital muscular dystrophy, Fukuyama type
|
ORPHAnet |
0‑L |
273
|
Steinert myotonic dystrophy
|
ORPHAnet |
0‑L |
274
|
Bernard-Soulier syndrome
|
ORPHAnet |
0‑L |
275
|
Severe combined immunodeficiency due to DCLRE1C deficiency
|
ORPHAnet |
0‑L |
276
|
T-B+ severe combined immunodeficiency due to gamma chain deficiency
|
ORPHAnet |
0‑L |
277
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
ORPHAnet |
0‑L |
280
|
Wolf-Hirschhorn syndrome
|
ORPHAnet |
0‑L |
281
|
Monosomy 5p
|
ORPHAnet |
0‑L |
283
|
Demodicidosis
|
ORPHAnet |
0‑L |
284
|
Alveolar echinococcosis
|
ORPHAnet |
0‑L |
285
|
Hypermobile Ehlers-Danlos syndrome
|
ORPHAnet |
0‑L |
286
|
Vascular Ehlers-Danlos syndrome
|
ORPHAnet |
0‑L |
287
|
Classical Ehlers-Danlos syndrome
|
ORPHAnet |
0‑L |
288
|
Hereditary elliptocytosis
|
ORPHAnet |
0‑L |
289
|
Ellis Van Creveld syndrome
|
ORPHAnet |
0‑L |
290
|
Congenital rubella syndrome
|
ORPHAnet |
0‑L |
291
|
Congenital varicella syndrome
|
ORPHAnet |
0‑L |
292
|
Congenital enterovirus infection
|
ORPHAnet |
0‑L |
293
|
Congenital herpes simplex virus infection
|
ORPHAnet |
0‑L |
294
|
Fetal cytomegalovirus syndrome
|
ORPHAnet |
0‑L |
295
|
Fetal parvovirus syndrome
|
ORPHAnet |
0‑L |
296
|
Ollier disease
|
ORPHAnet |
0‑L |
297
|
Tick-borne encephalitis
|
ORPHAnet |
0‑L |
298
|
Mitochondrial neurogastrointestinal encephalomyopathy
|
ORPHAnet |
0‑L |
300
|
Bifunctional enzyme deficiency
|
ORPHAnet |
0‑L |
302
|
Epidermodysplasia verruciformis
|
ORPHAnet |
0‑L |
306
|
Benign familial infantile epilepsy
|
ORPHAnet |
0‑L |
307
|
Juvenile myoclonic epilepsy
|
ORPHAnet |
0‑L |
308
|
Progressive myoclonic epilepsy type 1
|
ORPHAnet |
0‑L |
312
|
Autosomal dominant epidermolytic ichthyosis
|
ORPHAnet |
0‑L |
313
|
Lamellar ichthyosis
|
ORPHAnet |
0‑L |
314
|
Erythroderma desquamativum
|
ORPHAnet |
0‑L |
315
|
Erythrokeratoderma ''en cocardes''
|
ORPHAnet |
0‑L |
316
|
Progressive symmetric erythrokeratodermia
|
ORPHAnet |
0‑L |
317
|
Erythrokeratodermia variabilis
|
ORPHAnet |
0‑L |
318
|
Acute erythroid leukemia
|
ORPHAnet |
0‑L |
319
|
Skeletal Ewing sarcoma
|
ORPHAnet |
0‑L |
320
|
Apparent mineralocorticoid excess
|
ORPHAnet |
0‑L |
321
|
Multiple osteochondromas
|
ORPHAnet |
0‑L |
322
|
Exstrophy-epispadias complex
|
ORPHAnet |
0‑L |
324
|
Fabry disease
|
ORPHAnet |
0‑L |
325
|
Congenital factor II deficiency
|
ORPHAnet |
0‑L |
326
|
Congenital factor V deficiency
|
ORPHAnet |
0‑L |
327
|
Congenital factor VII deficiency
|
ORPHAnet |
0‑L |
328
|
Congenital factor X deficiency
|
ORPHAnet |
0‑L |
329
|
Congenital factor XI deficiency
|
ORPHAnet |
0‑L |
330
|
Congenital factor XII deficiency
|
ORPHAnet |
0‑L |
331
|
Congenital factor XIII deficiency
|
ORPHAnet |
0‑L |
332
|
Congenital intrinsic factor deficiency
|
ORPHAnet |
0‑L |
333
|
Farber disease
|
ORPHAnet |
0‑L |
334
|
Familial atrial fibrillation
|
ORPHAnet |
0‑L |
335
|
Congenital fibrinogen deficiency
|
ORPHAnet |
0‑L |
337
|
Fibrodysplasia ossificans progressiva
|
ORPHAnet |
0‑L |
340
|
Hemorrhagic fever-renal syndrome
|
ORPHAnet |
0‑L |
342
|
Familial Mediterranean fever
|
ORPHAnet |
0‑L |
343
|
Hyperimmunoglobulinemia D with periodic fever
|
ORPHAnet |
0‑L |
345
|
Dissecting cellulitis of the scalp
|
ORPHAnet |
0‑L |
346
|
Quinquaud folliculitis decalvans
|
ORPHAnet |
0‑L |
347
|
Frasier syndrome
|
ORPHAnet |
0‑L |
348
|
Fructose-1,6-bisphosphatase deficiency
|
ORPHAnet |
0‑L |
349
|
Fucosidosis
|
ORPHAnet |
0‑L |
351
|
Galactosialidosis
|
ORPHAnet |
0‑L |
353
|
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
|
ORPHAnet |
0‑L |
354
|
GM1 gangliosidosis
|
ORPHAnet |
0‑L |
355
|
Gaucher disease
|
ORPHAnet |
0‑L |
356
|
Gerstmann-Straussler-Scheinker syndrome
|
ORPHAnet |
0‑L |
358
|
Gitelman syndrome
|
ORPHAnet |
0‑L |
360
|
Glioblastoma
|
ORPHAnet |
0‑L |
361
|
Familial glucocorticoid deficiency
|
ORPHAnet |
0‑L |
364
|
Glycogen storage disease due to glucose-6-phosphatase deficiency
|
ORPHAnet |
0‑L |
365
|
Glycogen storage disease due to acid maltase deficiency
|
ORPHAnet |
0‑L |
366
|
Glycogen storage disease due to glycogen debranching enzyme deficiency
|
ORPHAnet |
0‑L |
367
|
Glycogen storage disease due to glycogen branching enzyme deficiency
|
ORPHAnet |
0‑L |
368
|
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
|
ORPHAnet |
0‑L |
369
|
Glycogen storage disease due to liver glycogen phosphorylase deficiency
|
ORPHAnet |
0‑L |
371
|
Glycogen storage disease due to muscle phosphofructokinase deficiency
|
ORPHAnet |
0‑L |
373
|
Simpson-Golabi-Behmel syndrome
|
ORPHAnet |
0‑L |
375
|
Anti-glomerular basement membrane disease
|
ORPHAnet |
0‑L |
376
|
Gordon syndrome
|
ORPHAnet |
0‑L |
377
|
Gorlin syndrome
|
ORPHAnet |
0‑L |
379
|
Chronic granulomatous disease
|
ORPHAnet |
0‑L |
380
|
Greig cephalopolysyndactyly syndrome
|
ORPHAnet |
0‑L |
381
|
Griscelli syndrome
|
ORPHAnet |
0‑L |
382
|
Guanidinoacetate methyltransferase deficiency
|
ORPHAnet |
0‑L |
384
|
Huriez syndrome
|
ORPHAnet |
0‑L |
386
|
Hepatic cystic hamartoma
|
ORPHAnet |
0‑L |
388
|
Hirschsprung disease
|
ORPHAnet |
0‑L |
389
|
Langerhans cell histiocytosis
|
ORPHAnet |
0‑L |
390
|
Histoplasmosis
|
ORPHAnet |
0‑L |
391
|
Classic Hodgkin lymphoma
|
ORPHAnet |
0‑L |
392
|
Holt-Oram syndrome
|
ORPHAnet |
0‑L |
393
|
46,XX testicular disorder of sex development
|
ORPHAnet |
0‑L |
394
|
Classic homocystinuria
|
ORPHAnet |
0‑L |
395
|
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|
ORPHAnet |
0‑L |
396
|
Chronic hiccup
|
ORPHAnet |
0‑L |
397
|
Giant cell arteritis
|
ORPHAnet |
0‑L |
399
|
Huntington disease
|
ORPHAnet |
0‑L |
400
|
Cystic echinococcosis
|
ORPHAnet |
0‑L |
401
|
Hymenolepiasis
|
ORPHAnet |
0‑L |
403
|
Familial hyperaldosteronism type I
|
ORPHAnet |
0‑L |
404
|
Familial hyperaldosteronism type II
|
ORPHAnet |
0‑L |
405
|
Familial hypocalciuric hypercalcemia
|
ORPHAnet |
0‑L |
407
|
Glycine encephalopathy
|
ORPHAnet |
0‑L |
408
|
Isolated glycerol kinase deficiency
|
ORPHAnet |
0‑L |
409
|
Hyperkeratosis lenticularis perstans
|
ORPHAnet |
0‑L |
412
|
Dysbetalipoproteinemia
|
ORPHAnet |
0‑L |
414
|
Gyrate atrophy of choroid and retina
|
ORPHAnet |
0‑L |
415
|
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
ORPHAnet |
0‑L |
416
|
Primary hyperoxaluria
|
ORPHAnet |
0‑L |
417
|
Neonatal severe primary hyperparathyroidism
|
ORPHAnet |
0‑L |
419
|
Hyperprolinemia type 1
|
ORPHAnet |
0‑L |
422
|
Idiopathic/heritable pulmonary arterial hypertension
|
ORPHAnet |
0‑L |
423
|
Malignant hyperthermia of anesthesia
|
ORPHAnet |
0‑L |
424
|
Familial hyperthyroidism due to mutations in TSH receptor
|
ORPHAnet |
0‑L |
425
|
Apolipoprotein A-I deficiency
|
ORPHAnet |
0‑L |
427
|
Familial hypoaldosteronism
|
ORPHAnet |
0‑L |
428
|
Autosomal dominant hypocalcemia
|
ORPHAnet |
0‑L |
429
|
Hypochondroplasia
|
ORPHAnet |
0‑L |
432
|
Normosmic congenital hypogonadotropic hypogonadism
|
ORPHAnet |
0‑L |
436
|
Hypophosphatasia
|
ORPHAnet |
0‑L |
439
|
Isolated right ventricular hypoplasia
|
ORPHAnet |
0‑L |
441
|
Pure autonomic failure
|
ORPHAnet |
0‑L |
444
|
Marie Unna hereditary hypotrichosis
|
ORPHAnet |
0‑L |
446
|
Neonatal hemochromatosis
|
ORPHAnet |
0‑L |
447
|
Paroxysmal nocturnal hemoglobinuria
|
ORPHAnet |
0‑L |
449
|
Hepatoblastoma
|
ORPHAnet |
0‑L |
452
|
X-linked lissencephaly with abnormal genitalia
|
ORPHAnet |
0‑L |
454
|
Acquired ichthyosis
|
ORPHAnet |
0‑L |
455
|
Superficial epidermolytic ichthyosis
|
ORPHAnet |
0‑L |
457
|
Harlequin ichthyosis
|
ORPHAnet |
0‑L |
461
|
Recessive X-linked ichthyosis
|
ORPHAnet |
0‑L |
464
|
Incontinentia pigmenti
|
ORPHAnet |
0‑L |
465
|
Congenital plasminogen activator inhibitor type 1 deficiency
|
ORPHAnet |
0‑L |
466
|
Fatal familial insomnia
|
ORPHAnet |
0‑L |
469
|
Hereditary fructose intolerance
|
ORPHAnet |
0‑L |
470
|
Lysinuric protein intolerance
|
ORPHAnet |
0‑L |
472
|
Isosporiasis
|
ORPHAnet |
0‑L |
474
|
Jeune syndrome
|
ORPHAnet |
0‑L |
475
|
Joubert syndrome
|
ORPHAnet |
0‑L |
477
|
KID syndrome
|
ORPHAnet |
0‑L |
478
|
Kallmann syndrome
|
ORPHAnet |
0‑L |
480
|
Kearns-Sayre syndrome
|
ORPHAnet |
0‑L |
481
|
Kennedy disease
|
ORPHAnet |
0‑L |
482
|
Kimura disease
|
ORPHAnet |
0‑L |
483
|
Congenital high-molecular-weight kininogen deficiency
|
ORPHAnet |
0‑L |
485
|
Kniest dysplasia
|
ORPHAnet |
0‑L |
486
|
Autosomal dominant severe congenital neutropenia
|
ORPHAnet |
0‑L |
487
|
Krabbe disease
|
ORPHAnet |
0‑L |
488
|
Urachal cyst
|
ORPHAnet |
0‑L |
490
|
Omphalomesenteric cyst
|
ORPHAnet |
0‑L |
492
|
Proliferating trichilemmal cyst
|
ORPHAnet |
0‑L |
493
|
Familial keratoacanthoma
|
ORPHAnet |
0‑L |
494
|
Keratoderma hereditarium mutilans
|
ORPHAnet |
0‑L |
495
|
Transgrediens et progrediens palmoplantar keratoderma
|
ORPHAnet |
0‑L |
499
|
Kerion celsi
|
ORPHAnet |
0‑L |
500
|
Noonan syndrome with multiple lentigines
|
ORPHAnet |
0‑L |
501
|
Lafora disease
|
ORPHAnet |
0‑L |
502
|
Trichorhinophalangeal syndrome type 2
|
ORPHAnet |
0‑L |
503
|
Larsen syndrome
|
ORPHAnet |
0‑L |
504
|
Creeping myiasis
|
ORPHAnet |
0‑L |
505
|
Graham Little-Piccardi-Lassueur syndrome
|
ORPHAnet |
0‑L |
507
|
Leishmaniasis
|
ORPHAnet |
0‑L |
508
|
Leprechaunism
|
ORPHAnet |
0‑L |
509
|
Leptospirosis
|
ORPHAnet |
0‑L |
510
|
Lesch-Nyhan syndrome
|
ORPHAnet |
0‑L |
511
|
Maple syrup urine disease
|
ORPHAnet |
0‑L |
512
|
Metachromatic leukodystrophy
|
ORPHAnet |
0‑L |
514
|
Acute monoblastic/monocytic leukemia
|
ORPHAnet |
0‑L |
517
|
Acute myelomonocytic leukemia
|
ORPHAnet |
0‑L |
518
|
Acute megakaryoblastic leukemia
|
ORPHAnet |
0‑L |
520
|
Acute promyelocytic leukemia
|
ORPHAnet |
0‑L |
521
|
Chronic myeloid leukemia
|
ORPHAnet |
0‑L |
523
|
Hereditary leiomyomatosis and renal cell cancer
|
ORPHAnet |
0‑L |
524
|
Li-Fraumeni syndrome
|
ORPHAnet |
0‑L |
525
|
Lichen planopilaris
|
ORPHAnet |
0‑L |
526
|
Liddle syndrome
|
ORPHAnet |
0‑L |
528
|
Congenital generalized lipodystrophy
|
ORPHAnet |
0‑L |
529
|
Roch-Leri mesosomatous lipomatosis
|
ORPHAnet |
0‑L |
530
|
Lipoid proteinosis
|
ORPHAnet |
0‑L |
531
|
Miller-Dieker syndrome
|
ORPHAnet |
0‑L |
533
|
Listeriosis
|
ORPHAnet |
0‑L |
534
|
Oculocerebrorenal syndrome of Lowe
|
ORPHAnet |
0‑L |
536
|
Systemic lupus erythematosus
|
ORPHAnet |
0‑L |
537
|
Toxic epidermal necrolysis
|
ORPHAnet |
0‑L |
538
|
Lymphangioleiomyomatosis
|
ORPHAnet |
0‑L |
540
|
Familial hemophagocytic lymphohistiocytosis
|
ORPHAnet |
0‑L |
543
|
Burkitt lymphoma
|
ORPHAnet |
0‑L |
545
|
Follicular lymphoma
|
ORPHAnet |
0‑L |
548
|
Leprosy
|
ORPHAnet |
0‑L |
549
|
Legionnaires disease
|
ORPHAnet |
0‑L |
550
|
MELAS
|
ORPHAnet |
0‑L |
551
|
MERRF
|
ORPHAnet |
0‑L |
552
|
MODY
|
ORPHAnet |
0‑L |
556
|
Malakoplakia
|
ORPHAnet |
0‑L |
558
|
Marfan syndrome
|
ORPHAnet |
0‑L |
559
|
Marinesco-Sjögren syndrome
|
ORPHAnet |
0‑L |
560
|
Marshall syndrome
|
ORPHAnet |
0‑L |
561
|
Marshall-Smith syndrome
|
ORPHAnet |
0‑L |
562
|
McCune-Albright syndrome
|
ORPHAnet |
0‑L |
563
|
Peripartum cardiomyopathy
|
ORPHAnet |
0‑L |
564
|
Meckel syndrome
|
ORPHAnet |
0‑L |
565
|
Menkes disease
|
ORPHAnet |
0‑L |
566
|
Congenital microcoria
|
ORPHAnet |
0‑L |
567
|
22q11.2 deletion syndrome
|
ORPHAnet |
0‑L |
568
|
Microphthalmia, Lenz type
|
ORPHAnet |
0‑L |
569
|
Familial or sporadic hemiplegic migraine
|
ORPHAnet |
0‑L |
570
|
Moebius syndrome
|
ORPHAnet |
0‑L |
572
|
Immunodeficiency by defective expression of MHC class II
|
ORPHAnet |
0‑L |
573
|
Monilethrix
|
ORPHAnet |
0‑L |
574
|
Monosomy 21
|
ORPHAnet |
0‑L |
575
|
Muckle-Wells syndrome
|
ORPHAnet |
0‑L |
576
|
Mucolipidosis type II
|
ORPHAnet |
0‑L |
577
|
Mucolipidosis type III
|
ORPHAnet |
0‑L |
578
|
Mucolipidosis type IV
|
ORPHAnet |
0‑L |
579
|
Mucopolysaccharidosis type 1
|
ORPHAnet |
0‑L |
580
|
Mucopolysaccharidosis type 2
|
ORPHAnet |
0‑L |
581
|
Mucopolysaccharidosis type 3
|
ORPHAnet |
0‑L |
582
|
Mucopolysaccharidosis type 4
|
ORPHAnet |
0‑L |
583
|
Mucopolysaccharidosis type 6
|
ORPHAnet |
0‑L |
584
|
Mucopolysaccharidosis type 7
|
ORPHAnet |
0‑L |
585
|
Multiple sulfatase deficiency
|
ORPHAnet |
0‑L |
586
|
Cystic fibrosis
|
ORPHAnet |
0‑L |
587
|
Muir-Torre syndrome
|
ORPHAnet |
0‑L |
588
|
Muscle-eye-brain disease
|
ORPHAnet |
0‑L |
589
|
Myasthenia gravis
|
ORPHAnet |
0‑L |
590
|
Congenital myasthenic syndrome
|
ORPHAnet |
0‑L |
591
|
Furuncular myiasis
|
ORPHAnet |
0‑L |
592
|
Macrophagic myofasciitis
|
ORPHAnet |
0‑L |
596
|
X-linked centronuclear myopathy
|
ORPHAnet |
0‑L |
597
|
Central core disease
|
ORPHAnet |
0‑L |
598
|
Multiminicore myopathy
|
ORPHAnet |
0‑L |
600
|
Vocal cord and pharyngeal distal myopathy
|
ORPHAnet |
0‑L |
602
|
GNE myopathy
|
ORPHAnet |
0‑L |
603
|
Distal myopathy, Welander type
|
ORPHAnet |
0‑L |
606
|
Proximal myotonic myopathy
|
ORPHAnet |
0‑L |
609
|
Tibial muscular dystrophy
|
ORPHAnet |
0‑L |
610
|
Bethlem myopathy
|
ORPHAnet |
0‑L |
611
|
Inclusion body myositis
|
ORPHAnet |
0‑L |
614
|
Thomsen and Becker disease
|
ORPHAnet |
0‑L |
615
|
Familial atrial myxoma
|
ORPHAnet |
0‑L |
616
|
Medulloblastoma
|
ORPHAnet |
0‑L |
617
|
Congenital primary megaureter
|
ORPHAnet |
0‑L |
618
|
Familial melanoma
|
ORPHAnet |
0‑L |
621
|
Hereditary methemoglobinemia
|
ORPHAnet |
0‑L |
622
|
Homocystinuria without methylmalonic aciduria
|
ORPHAnet |
0‑L |
624
|
Familial multiple nevi flammei
|
ORPHAnet |
0‑L |
626
|
Large congenital melanocytic nevus
|
ORPHAnet |
0‑L |
627
|
Nance-Horan syndrome
|
ORPHAnet |
0‑L |
628
|
Diastrophic dysplasia
|
ORPHAnet |
0‑L |
629
|
Short stature due to growth hormone qualitative anomaly
|
ORPHAnet |
0‑L |
631
|
Non-acquired isolated growth hormone deficiency
|
ORPHAnet |
0‑L |
632
|
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
|
ORPHAnet |
0‑L |
633
|
Laron syndrome
|
ORPHAnet |
0‑L |
634
|
Netherton syndrome
|
ORPHAnet |
0‑L |
635
|
Neuroblastoma
|
ORPHAnet |
0‑L |
636
|
Neurofibromatosis type 1
|
ORPHAnet |
0‑L |
637
|
Neurofibromatosis type 2
|
ORPHAnet |
0‑L |
638
|
Neurofibromatosis-Noonan syndrome
|
ORPHAnet |
0‑L |
639
|
Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
|
ORPHAnet |
0‑L |
640
|
Hereditary neuropathy with liability to pressure palsies
|
ORPHAnet |
0‑L |
641
|
Multifocal motor neuropathy
|
ORPHAnet |
0‑L |
642
|
Hereditary sensory and autonomic neuropathy type 4
|
ORPHAnet |
0‑L |
643
|
Giant axonal neuropathy
|
ORPHAnet |
0‑L |
644
|
NARP syndrome
|
ORPHAnet |
0‑L |
646
|
Niemann-Pick disease type C
|
ORPHAnet |
0‑L |
647
|
Nijmegen breakage syndrome
|
ORPHAnet |
0‑L |
648
|
Noonan syndrome
|
ORPHAnet |
0‑L |
649
|
Norrie disease
|
ORPHAnet |
0‑L |
650
|
LCAT deficiency
|
ORPHAnet |
0‑L |
652
|
Multiple endocrine neoplasia type 1
|
ORPHAnet |
0‑L |
653
|
Multiple endocrine neoplasia type 2
|
ORPHAnet |
0‑L |
654
|
Nephroblastoma
|
ORPHAnet |
0‑L |
655
|
Nephronophthisis
|
ORPHAnet |
0‑L |
656
|
Genetic steroid-resistant nephrotic syndrome
|
ORPHAnet |
0‑L |
659
|
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
|
ORPHAnet |
0‑L |
660
|
Omphalocele
|
ORPHAnet |
0‑L |
661
|
Congenital central hypoventilation syndrome
|
ORPHAnet |
0‑L |
662
|
Yellow nail syndrome
|
ORPHAnet |
0‑L |
663
|
Mitochondrial DNA-related progressive external ophthalmoplegia
|
ORPHAnet |
0‑L |
664
|
Ornithine transcarbamylase deficiency
|
ORPHAnet |
0‑L |
666
|
Osteogenesis imperfecta
|
ORPHAnet |
0‑L |
667
|
Autosomal recessive malignant osteopetrosis
|
ORPHAnet |
0‑L |
668
|
Osteosarcoma
|
ORPHAnet |
0‑L |
672
|
Pallister-Hall syndrome
|
ORPHAnet |
0‑L |
673
|
Malaria
|
ORPHAnet |
0‑L |
674
|
Accessory pancreas
|
ORPHAnet |
0‑L |
675
|
Annular pancreas
|
ORPHAnet |
This value set has 7226 codes in it. In order to keep the publication size manageable,
only a selection (500 codes) of the whole set of codes is shown.
|
|