Rare Diseases Category (15457 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 P JBR020 Joubert Syndrome 1 72
2 c JBR015 Joubert Syndrome 6 43
3 c JBR024 Joubert Syndrome 14 42
4 c JBR004 Joubert Syndrome 2 40
5 c JBR025 Joubert Syndrome 17 38
6 c JBR041 Joubert Syndrome 3 36
7 c JBR022 Joubert Syndrome 20 34
8 c JBR012 Joubert Syndrome 5 32
9 c JBR014 Joubert Syndrome 9 30
10 c JBR026 Joubert Syndrome 15 30
11 c JBR042 Joubert Syndrome 23 29
12 c JBR031 Joubert Syndrome 21 29
13 c JBR013 Joubert Syndrome 8 28
14 c JBR016 Joubert Syndrome 10 28
15 c JBR011 Joubert Syndrome 7 27
16 c JBR039 Joubert Syndrome 28 27
17 c JBR030 Joubert Syndrome 22 26
18 c JBR018 Joubert Syndrome 4 26
19 c JBR027 Joubert Syndrome 16 25
20 c JBR021 Joubert Syndrome 18 25
21 c JBR036 Joubert Syndrome 25 25
22 c JBR043 Joubert Syndrome 32 25
23 c JBR035 Joubert Syndrome 24 25
24 c JBR040 Joubert Syndrome 30 24
25 c JBR045 Joubert Syndrome 33 24
26 c JBR037 Joubert Syndrome 26 24
27 c JBR028 Joubert Syndrome 13 23
28 c JBR047 Joubert Syndrome 35 23
29 c JBR038 Joubert Syndrome 27 22
30 c JBR044 Joubert Syndrome 31 22
31 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 19
32 c SYS001 Systemic Lupus Erythematosus 88
33 PFF001 Pfeiffer Syndrome 79
34 P NRF023 Neurofibromatosis, Type Ii 77
35 P SCH015 Schizophrenia 76
36 c HPT073 Hepatitis C Virus 74
37 P MLT020 Multiple Sclerosis 73
38 MYL009 Myelodysplastic Syndrome 72
39 P WSK001 Wiskott-Aldrich Syndrome 71
40 P AMY004 Amyloidosis 71
41 P PHC003 Pheochromocytoma 71
42 P BRG001 Brugada Syndrome 70
43 BSL036 Basal Cell Nevus Syndrome 70
44 BHC003 Behcet Syndrome 70
45 CMM004 Common Variable Immunodeficiency 69
46 P DBT085 Diabetes Mellitus, Insulin-Dependent 68
47 P SYS005 Systemic Scleroderma 68
48 P ORT004 Orthostatic Intolerance 68
49 CHD001 Chediak-Higashi Syndrome 68
50 OMN001 Omenn Syndrome 66
51 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
52 P HRP006 Herpes Simplex 66
53 P TRN020 Turner Syndrome 66
54 DMN031 Dementia, Lewy Body 66
55 P CCK001 Cockayne Syndrome 66
56 MSC007 Muscle Hypertrophy 65
57 KWS002 Kawasaki Disease 65
58 c RHB024 Rhabdomyosarcoma 2 64
59 P HRM001 Hermansky-Pudlak Syndrome 64
60 P GCH001 Gaucher's Disease 63
61 c PRC016 Pre-Eclampsia 63
62 P MYP004 Myopathy 63
63 P TRC072 Treacher Collins Syndrome 1 63
64 c SYS004 Systemic Mastocytosis 63
65 P CRN038 Carney Complex Variant 63
66 P RHB003 Rhabdomyosarcoma 62
67 INC021 Incontinentia Pigmenti 62
68 P MST009 Mastocytosis 62
69 c PRG042 Progressive Familial Heart Block, Type Ia 62
70 P LPS004 Lupus Erythematosus 62
71 PRP083 Porphyria, Acute Intermittent 62
72 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 62
73 P SNS001 Sensorineural Hearing Loss 62
74 P MCP040 Mucopolysaccharidosis-Plus Syndrome 62
75 CTR172 Citrullinemia, Classic 62
76 P CTR002 Cataract 62
77 c PNS012 Paine Syndrome 61
78 c DNG003 Dengue Disease 61
79 P SHW006 Shwachman-Diamond Syndrome 1 61
80 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
81 CHR066 Chronic Fatigue Syndrome 61
82 P PLY014 Polycystic Kidney Disease 61
83 P CND004 Candidiasis 61
84 P SCL018 Scoliosis 61
85 CHR619 Chromosome 2q35 Duplication Syndrome 61
86 CHL067 Cholecystitis 60
87 ALS001 Alstrom Syndrome 60
88 P MYC008 Myocarditis 60
89 P MLG056 Malignant Hyperthermia 60
90 c CLR131 Ciliary Dyskinesia, Primary, 1 59
91 c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 59
92 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 59
93 P THR005 Thrombotic Thrombocytopenic Purpura 59
94 ADL030 Adult-Onset Still's Disease 59
95 P WLF004 Wolfram Syndrome 58
96 STS003 Sitosterolemia 58
97 P PLY011 Polycystic Ovary Syndrome 58
98 P ALP008 Alopecia 58
99 ALP097 Alopecia Universalis Congenita 58
100 KND001 Kindler Syndrome 58
101 RSP019 Respiratory Distress Syndrome in Premature Infants 58
102 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 58
103 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58
104 TMT001 Timothy Syndrome 58
105 P DNG005 Dengue Virus 57
106 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
107 c LNG047 Long Qt Syndrome 2 57
108 SCH014 Schistosomiasis 57
109 FCT003 Factor X Deficiency 57
110 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 57
111 CPR004 Coproporphyria, Hereditary 57
112 c ANG068 Angioedema, Hereditary, Type I 57
113 P SCK004 Seckel Syndrome 57
114 SFT003 Soft Tissue Sarcoma 57
115 P GLL022 Guillain-Barre Syndrome 56
116 ENH001 Enhanced S-Cone Syndrome 56
117 ANT024 Anthrax Disease 56
118 c ANM036 Anemia, Sideroblastic, 1 56
119 FLR002 Filariasis 56
120 c CHR417 Chronic Graft Versus Host Disease 56
121 c WLF013 Wolfram Syndrome 1 56
122 DBL002 Double Outlet Right Ventricle 55
123 P PNM006 Pneumoconiosis 55
124 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55
125 SYN007 Synovitis 55
126 MTC097 Mitochondrial Complex Iv Deficiency 55
127 TTZ003 Tietz Albinism-Deafness Syndrome 55
128 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 55
129 OCL020 Ocular Cicatricial Pemphigoid 55
130 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
131 c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 55
132 CLF004 Cleft Lip/palate 55
133 VSC044 Visceral Myopathy 54
134 P ESP035 Esophagitis, Eosinophilic, 1 54
135 c INT064 Intermediate Uveitis 54
136 PRP016 Paraplegia 54
137 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
138 P ANG015 Angioedema 54
139 c SCN036 Secondary Progressive Multiple Sclerosis 54
140 LYS003 Lysinuric Protein Intolerance 54
141 HMS001 Hemosiderosis 54
142 INF034 Infective Endocarditis 53
143 NTR018 Neutrophilia, Hereditary 53
144 EBS001 Ebstein Anomaly 53
145 P ACT105 Acute Mountain Sickness 53
146 P RTN018 Retinal Disease 53
147 P ECL001 Eclampsia 53
148 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
149 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53
150 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 53
151 P PRR016 Pierre Robin Syndrome 53
152 c HPT007 Hepatitis E 53
153 P VSC013 Visceral Heterotaxy 53
154 P SCK005 Sickle Cell Disease 53
155 c OST163 Osteopetrosis, Autosomal Recessive 3 53
156 FCL009 Focal Dermal Hypoplasia 53
157 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
158 c PST005 Posterior Uveitis 52
159 GLC009 Glucosephosphate Dehydrogenase Deficiency 52
160 RGH009 Right Atrial Isomerism 52
161 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 52
162 P LCT001 Lactic Acidosis 52
163 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 52
164 P PRT096 Peritoneal Mesothelioma 52
165 ORT008 Orotic Aciduria 51
166 RST011 Restrictive Dermopathy, Lethal 51
167 PLC008 Placenta Disease 51
168 LPD016 Lipoid Proteinosis of Urbach and Wiethe 51
169 c WRD033 Waardenburg Syndrome, Type 2e 51
170 FLT011 Felty Syndrome 51
171 P ANL018 Analbuminemia 51
172 P PRK001 Porokeratosis 51
173 PHL006 Phelan-Mcdermid Syndrome 51
174 ERD001 Erdheim-Chester Disease 51
175 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 51
176 P NML001 Nemaline Myopathy 51
177 c CCK008 Cockayne Syndrome a 51
178 c PYR010 Peyronie's Disease 51
179 P ALP061 Alopecia, Androgenetic, 1 51
180 c SVR005 Severe Pre-Eclampsia 50
181 P DDN001 Duodenal Ulcer 50
182 P PLM006 Pulmonary Alveolar Proteinosis 50
183 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 50
184 TBR011 Tuberculous Meningitis 50
185 MLB001 Mulibrey Nanism 50
186 c AMY009 Amyloidosis Aa 50
187 P ESN008 Eosinophilic Pneumonia 50
188 c BRG005 Brugada Syndrome 1 50
189 c CNT075 Central Precocious Puberty 50
190 c VRL007 Viral Encephalitis 49
191 c VNW008 Von Willebrand Disease, Type 3 49
192 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 49
193 ESP002 Esophageal Varix 49
194 c PRM108 Primary Progressive Multiple Sclerosis 49
195 P PRX021 Proximal Symphalangism 49
196 THY128 Thyroid Tumor 49
197 c MYP072 Myopathy, Myofibrillar, 1 49
198 VRN004 Vernal Keratoconjunctivitis 49
199 P HYP121 Hypoalphalipoproteinemia 49
200 P WHT013 White Sponge Nevus 1 49
201 c PRG126 Progressive Familial Heart Block 49
202 P HMN032 Human Herpesvirus 8 49
203 TRC008 Trachoma 49
204 P SCL015 Scleritis 49
205 SCR020 Sacral Defect with Anterior Meningocele 48
206 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 48
207 END020 Endocardial Fibroelastosis 48
208 c CNG027 Congenital Hemolytic Anemia 48
209 PST062 Pustulosis Palmaris Et Plantaris 48
210 P FNG006 Feingold Syndrome 1 48
211 c NML003 Nemaline Myopathy 2 48
212 c NML002 Nemaline Myopathy 1 48
213 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 48
214 c GRS014 Griscelli Syndrome, Type 2 48
215 P FNC004 Fanconi Syndrome 48
216 NRL004 Neuroleptic Malignant Syndrome 48
217 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 48
218 VTR007 Vitreoretinopathy 48
219 FBR032 Fibromuscular Dysplasia 48
220 c INH030 Inherited Retinal Disorder 48
221 c CCK007 Cockayne Syndrome B 48
222 c PRG043 Progressive Familial Heart Block, Type Ib 48
223 RSP023 Rasopathy 48
224 VCS001 Vici Syndrome 48
225 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
226 RCR004 Recurrent Respiratory Papillomatosis 48
227 c BRC079 Brachydactyly, Type A2 47
228 TTR011 Tetraploidy 47
229 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
230 c ART155 Arthrogryposis, Distal, Type 2b1 47
231 P PRD021 Periodic Paralysis 47
232 TRC040 Tracheoesophageal Fistula 47
233 P SCL009 Sclerosing Cholangitis 47
234 c SCK009 Seckel Syndrome 1 47
235 MNC019 Monocarboxylate Transporter 1 Deficiency 47
236 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
237 NSS002 Neisseria Meningitidis Infection 47
238 P MYF003 Myofibrillar Myopathy 47
239 P CNG003 Congenital Dyserythropoietic Anemia 47
240 MYL013 Myeloperoxidase Deficiency 47
241 P GND004 Gonadal Dysgenesis 47
242 PTT037 Pituitary Tumors 47
243 HMF009 Hemifacial Hyperplasia 47
244 P CRN074 Coronary Artery Aneurysm 47
245 MWT001 Mowat-Wilson Syndrome 47
246 P SMP003 Simpson-Golabi-Behmel Syndrome 47
247 c WRD032 Waardenburg Syndrome, Type 2a 47
248 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 47
249 HNN001 Hennekam Syndrome 47
250 P JVN007 Juvenile Absence Epilepsy 47
251 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 47
252 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
253 CYT002 Cytokine Deficiency 46
254 c WRD020 Waardenburg Syndrome, Type 4a 46
255 CRD002 Cri-Du-Chat Syndrome 46
256 P MCL001 Mucolipidosis 46
257 MNN020 Meningococcal Infection 46
258 P KLP003 Klippel-Feil Syndrome 46
259 HMP009 Haemophilus Influenzae 46
260 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 46
261 GRN017 Granulocytopenia 46
262 CNG028 Congenital Hypoplastic Anemia 46
263 ERY004 Erysipelas 46
264 VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 46
265 IDP035 Idiopathic Achalasia 46
266 SBL008 Sea-Blue Histiocyte Disease 46
267 P RSM001 Rasmussen Encephalitis 46
268 STS002 Situs Inversus 46
269 NVS001 Neovascular Glaucoma 46
270 LMB050 Limbal Stem Cell Deficiency 46
271 RBF001 Riboflavin Deficiency 46
272 c CHR037 Chronic Eosinophilic Pneumonia 46
273 TLP001 Talipes Equinovarus 45
274 NNK001 Nonaka Myopathy 45
275 P CMP008 Compartment Syndrome 45
276 PRG033 Progressive Non-Fluent Aphasia 45
277 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 45
278 NNS002 Nonspecific Interstitial Pneumonia 45
279 P JVN008 Juvenile Glaucoma 45
280 c LNG051 Long Qt Syndrome 6 45
281 c EPP014 Epiphyseal Dysplasia, Multiple, 4 45
282 PRX001 Peroxisomal Disease 45
283 P HMP006 Hemiplegic Migraine 45
284 P NLX004 Neu-Laxova Syndrome 1 45
285 ART031 Aortic Coarctation 45
286 MNG006 Monogenic Diabetes 45
287 P EPT020 Epithelioid Hemangioendothelioma 45
288 c ACT076 Acute Myocarditis 45
289 PRM057 Paramyotonia Congenita of Von Eulenburg 45
290 c MLG002 Malignant Peritoneal Mesothelioma 45
291 GLC036 Glucagonoma 45
292 P PSD003 Pseudohypoaldosteronism 45
293 c DYS119 Dystonia 9 45
294 SPN119 Spondylarthropathy 45
295 LCH011 Lichen Planopilaris 45
296 P ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 45
297 GGR001 Geographic Tongue 45
298 c CTR098 Cataract 1, Multiple Types 45
299 c SCH085 Schizophrenia 2 45
300 P PLY020 Polyradiculoneuropathy 45
301 RDC006 Red Cell Aplasia 45
302 c BRD020 Bardet-Biedl Syndrome 8 45
303 c MYP078 Myopathy, Myofibrillar, 3 44
304 IDP033 Idiopathic Edema 44
305 c SCH079 Schizophrenia 1 44
306 HYP706 Hypermobile Ehlers-Danlos Syndrome 44
307 VLV044 Vulvar Intraepithelial Neoplasia 44
308 STT007 Steatocystoma Multiplex 44
309 DXT002 Dextrocardia with Situs Inversus 44
310 P SYN075 Syngnathia 44
311 ANP009 Anaplastic Oligodendroglioma 44
312 c NML004 Nemaline Myopathy 3 44
313 P HRT035 Heart Block, Congenital 44
314 EST005 Esotropia 44
315 ASB001 Asbestosis 44
316 DSC009 Discoid Lupus Erythematosus 44
317 c ERL020 Early-Onset Schizophrenia 44
318 P ERY008 Erythromelalgia 44
319 P PRT042 Parietal Foramina 44
320 TRS021 Triosephosphate Isomerase Deficiency 44
321 CTY001 Cat Eye Syndrome 43
322 IDP073 Idiopathic Hypercalciuria 43
323 KPS002 Kaposiform Hemangioendothelioma 43
324 ANC002 Anca-Associated Vasculitis 43
325 c RNG023 Ring Chromosome 7 43
326 P RNG032 Ring Chromosome 43
327 ACT055 Actinomycosis 43
328 CHR594 Chromosome 3q29 Deletion Syndrome 43
329 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
330 HYP231 Hypothalamic Hamartomas 43
331 MRB001 Marburg Hemorrhagic Fever 43
332 P AVS003 Avascular Necrosis 43
333 c MCL066 Macular Dystrophy, Vitelliform, 2 43
334 c CHR546 Chronic Mountain Sickness 43
335 c USH035 Usher Syndrome Type 2 43
336 PLG004 Plagiocephaly 43
337 P HYP087 Hypotrichosis 43
338 PRS115 Prosthetic Joint Infection 43
339 P VTL001 Vitelliform Macular Dystrophy 43
340 c ACQ010 Acquired Polycythemia 43
341 FNT005 Fontaine Progeroid Syndrome 43
342 P RDL002 Radioulnar Synostosis 43
343 JVN033 Juvenile Nasopharyngeal Angiofibroma 43
344 P HRD018 Hair Disease 43
345 CRR002 Currarino Syndrome 43
346 c HYP575 Hypotrichosis 7 43
347 c BRT050 Bartter Syndrome, Type 2, Antenatal 43
348 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 43
349 CHL109 Childhood Apraxia of Speech 43
350 c 46X002 46 Xx Gonadal Dysgenesis 43
351 HRL004 Hurler-Scheie Syndrome 43
352 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
353 c BRD011 Bardet-Biedl Syndrome 10 43
354 c KNB006 Knobloch Syndrome 1 43
355 c CRN243 Carney Complex, Type 1 43
356 P MYG005 Myoglobinuria 43
357 P KLZ004 Kala-Azar 1 43
358 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 42
359 MYC013 Mycobacterium Abscessus 42
360 c RTS003 Ritscher-Schinzel Syndrome 1 42
361 c CHR576 Chronic Beryllium Disease 42
362 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
363 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
364 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
365 P OSS001 Ossifying Fibroma 42
366 P SYN012 Synpolydactyly 42
367 DYS032 Dystrophinopathies 42
368 c PRM032 Primary Congenital Glaucoma 42
369 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
370 c WRD019 Waardenburg Syndrome, Type 4b 42
371 CNG069 Congenital Cytomegalovirus 42
372 MCR173 Microform Holoprosencephaly 42
373 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
374 P PRP034 Purpura Fulminans 42
375 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 42
376 P GLM044 Glomerular Disease 42
377 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
378 C1Q001 C1q Deficiency 42
379 FNG016 Fungal Keratitis 42
380 c NNN013 Noonan Syndrome 6 41
381 IDP064 Idiopathic Neutropenia 41
382 c USH041 Usher Syndrome, Type if 41
383 NTR007 Neutral Lipid Storage Disease with Myopathy 41
384 FCL022 Focal Dystonia 41
385 WRS002 Warsaw Breakage Syndrome 41
386 RLP003 Relapsing Fever 41
387 CRV045 Cervical Intraepithelial Neoplasia 41
388 P PYR039 Peyronie Disease 41
389 FRY002 Fryns Syndrome 41
390 TRP014 Triploidy 41
391 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
392 c LNG053 Long Qt Syndrome 9 41
393 c BRT038 Baraitser-Winter Syndrome 1 41
394 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
395 CSL001 Causalgia 41
396 ATP013 Atopic Keratoconjunctivitis 41
397 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
398 PCH007 Pouchitis 41
399 c MYP079 Myopathy, Myofibrillar, 5 41
400 P DYS021 Dysautonomia 41
401 c MYP082 Myopathy, Myofibrillar, 2 41
402 PRM329 Premature Aging 41
403 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 41
404 CHR008 Choroiditis 41
405 DPH019 Diaphanospondylodysostosis 41
406 c MCK031 Meckel Syndrome, Type 2 41
407 c TYR011 Tyrosinemia, Type Iii 41
408 CLP005 Ciliopathy 41
409 ORM002 Oromandibular Dystonia 41
410 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
411 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
412 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 40
413 KRT063 Keratocystic Odontogenic Tumor 40
414 c VNM003 Van Maldergem Syndrome 1 40
415 HTR003 Heterotaxy 40
416 MNK002 Monkeypox 40
417 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
418 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 40
419 MLT028 Multiminicore Disease 40
420 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 40
421 P SYR003 Syringoma 40
422 c SCH082 Schizophrenia 5 40
423 HRP025 Herpes Simplex Virus Keratitis 40
424 RCK002 Rocky Mountain Spotted Fever 40
425 c MLG157 Malignant Pheochromocytoma 40
426 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
427 TRP006 Tarp Syndrome 40
428 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40
429 P BRY005 Beryllium Disease 40
430 SPS019 Spastic Paraparesis 40
431 P ANT061 Antenatal Bartter Syndrome 40
432 P YWS001 Yaws 40
433 INH001 Inhalation Anthrax 40
434 SCH060 Schistosoma Mansoni Infection, Susceptibility/ 40
435 MYL057 Myelopathy, Htlv-1-Associated 40
436 c EPL133 Epilepsy, Juvenile Absence 1 40
437 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
438 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 40
439 URM005 Uremic Pruritus 40
440 c NML005 Nemaline Myopathy 4 40
441 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 40
442 ACN019 Acanthamoeba Keratitis 40
443 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 40
444 c GLL037 Guillain-Barre Syndrome, Familial 39
445 PST027 Postencephalitic Parkinson Disease 39
446 SML028 Semilobar Holoprosencephaly 39
447 SPS004 Spastic Quadriplegia 39
448 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
449 c RTN172 Retinitis Pigmentosa 1 39
450 LCH009 Lichen Sclerosus 39
451 c ATM075 Autoimmune Encephalitis 39
452 P MCR364 Macrodactyly 39
453 c ANT071 Anterior Segment Dysgenesis 4 39
454 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
455 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 39
456 P OMD003 Omodysplasia 39
457 PSR016 Psoriatic Juvenile Idiopathic Arthritis 39
458 c SYS043 Systemic Lupus Erythematosus 1 39
459 c PSD106 Pseudo-Torch Syndrome 1 39
460 GNT029 Genetic Hypertension 39
461 HNZ004 Heinz Body Anemias 39
462 c MYC083 Myoclonic Epilepsy, Familial Infantile 39
463 SBV001 Subvalvular Aortic Stenosis 39
464 P TRC005 Tracheal Stenosis 39
465 SNG007 Sengers Syndrome 39
466 VLV042 Vulvar Vestibulitis Syndrome 39
467 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 39
468 c SCK015 Seckel Syndrome 2 39
469 P DNT009 Dentin Dysplasia 39
470 P CNG048 Congenital Hepatic Fibrosis 39
471 MYC017 Mycobacterium Kansasii 39
472 BNB002 Bainbridge-Ropers Syndrome 39
473 ZKV001 Zika Virus Infection 39
474 CRT055 Creatine Deficiency Syndromes 39
475 AMN006 Aminoaciduria 39
476 SPC031 Specific Learning Disability 39
477 HRT040 Hirata Disease 39
478 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
479 CHY005 Chylothorax, Congenital 39
480 P BRT040 Baraitser-Winter Syndrome 38
481 c CTR096 Cataract 6, Multiple Types 38
482 c MCP051 Mucopolysaccharidosis, Type Ix 38
483 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
484 P SRT003 Sertoli-Leydig Cell Tumor 38
485 c CTR130 Cataract 9, Multiple Types 38
486 c PRG011 Progressive Myoclonus Epilepsy 38
487 c XFP001 Xfe Progeroid Syndrome 38
488 P INT260 Intracranial Berry Aneurysm 38
489 MNN021 Meningococcemia 38
490 OHD005 Ohdo Syndrome, Sbbys Variant 38
491 c CTR103 Cataract 4, Multiple Types 38
492 LSS001 Loiasis 38
493 c HYP507 Hypotrichosis 1 38
494 P HRD144 Hereditary Mixed Polyposis Syndrome 38
495 c BRG007 Brugada Syndrome 5 38
496 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 38
497 c WRB005 Warburg Micro Syndrome 4 38
498 c PLY105 Polycystic Ovary Syndrome 1 38
499 STR077 Streptococcal Toxic-Shock Syndrome 38
500 c SYN084 Synpolydactyly 1 38
501 PTT045 Pituitary Hormone Deficiency, Combined, 1 38
502 c HYP559 Hypotrichosis 8 38
503 c CTR132 Cataract 3, Multiple Types 38
504 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
505 CHL078 Childhood-Onset Schizophrenia 38
506 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
507 SYS071 Systemic Autoimmune Disease 38
508 c RTN048 Retinitis Pigmentosa 19 38
509 BLP004 Blepharophimosis 38
510 FLT009 Folate Malabsorption, Hereditary 38
511 c WRD024 Waardenburg Syndrome, Type 4c 38
512 c EPP012 Epiphyseal Dysplasia, Multiple, 2 38
513 ACY011 Acyl-Coa Dehydrogenase Deficiency 38
514 CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 38
515 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 37
516 NCR001 Necrotizing Ulcerative Gingivitis 37
517 c EPP015 Epiphyseal Dysplasia, Multiple, 3 37
518 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
519 PDT025 Pediatric Multiple Sclerosis 37
520 P MNN007 Meningocele 37
521 c MLG049 Malignant Syringoma 37
522 c ACQ012 Acquired Angioedema 37
523 c LBR011 Leber Congenital Amaurosis 16 37
524 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
525 RTC010 Reticuloendotheliosis 37
526 SYR010 Syringomyelia, Noncommunicating Isolated 37
527 SPT024 Spotted Fever Rickettsiosis 37
528 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
529 c MYG007 Myoglobinuria, Recurrent 37
530 FML168 Familial Isolated Pituitary Adenoma 37
531 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 37
532 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 37
533 CHR382 Chromosome 18q Deletion Syndrome 37
534 c LBR007 Leber Congenital Amaurosis 12 37
535 BLC015 Balo Concentric Sclerosis 37
536 MTG002 Mutagen Sensitivity 37
537 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 37
538 c BRD019 Bardet-Biedl Syndrome 7 37
539 KSH001 Keshan Disease 37
540 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
541 MYT003 Myotonic Disease 36
542 c ATM022 Autoimmune Myocarditis 36
543 AMR003 Amaurosis Fugax 36
544 CHR178 Chromosomal Triplication 36
545 c MYP080 Myopathy, Myofibrillar, 4 36
546 c PST008 Posterior Scleritis 36
547 c WLF009 Wolfram Syndrome 2 36
548 FST010 Fasting Hypoglycemia 36
549 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
550 PLN005 Palindromic Rheumatism 36
551 c HYP525 Hypotrichosis 2 36
552 c BNG079 Benign Adult Familial Myoclonic Epilepsy 36
553 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
554 c NNN012 Noonan Syndrome 5 36
555 c SCH051 Schizophrenia 4 36
556 AGM004 Agammaglobulinemia, Non-Bruton Type 36
557 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
558 c WLL037 Weill-Marchesani Syndrome 2 36
559 PCT001 Pectus Carinatum 36
560 c LRS002 Larsen-Like Syndrome 36
561 GLY032 Glycosylphosphatidylinositol Deficiency 36
562 c HYP581 Hypotrichosis 6 36
563 CNT057 Central Centrifugal Cicatricial Alopecia 36
564 HMM004 Hamamy Syndrome 36
565 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 36
566 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
567 HMM005 Hemimelia 36
568 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 36
569 P TRN016 Transient Hypogammaglobulinemia 36
570 c CNG379 Congenital Disorder of Glycosylation, Type It 36
571 P CNG024 Congenital Nystagmus 36
572 c EPS017 Episodic Ataxia, Type 6 36
573 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 36
574 c PLZ002 Pelizaeus-Merzbacher-Like Disease 36
575 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
576 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 36
577 OCH001 Ochronosis 36
578 BSM001 Basement Membrane Disease 36
579 c RTN042 Retinitis Pigmentosa 12 36
580 BWN003 Bowenoid Papulosis 36
581 STC004 Stachybotrys Chartarum 36
582 c HTR021 Heterotaxy, Visceral, 5, Autosomal 35
583 c PRM149 Primary Hypereosinophilic Syndrome 35
584 WBR001 Weber Syndrome 35
585 c RTN066 Retinitis Pigmentosa 4 35
586 HNS001 Hansen's Disease 35
587 RFR013 Refractory Celiac Disease 35
588 GLC001 Glaucomatocyclitic Crisis 35
589 c CTR141 Cataract 21, Multiple Types 35
590 LPD001 Lipid Pneumonia 35
591 WRT003 Warthin Tumor 35
592 PRN029 Parainfluenza Virus Type 3 35
593 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 35
594 c CTR118 Cataract 14, Multiple Types 35
595 c FNC059 Fanconi-Like Syndrome 35
596 c CTR170 Cataract 30, Multiple Types 35
597 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 35
598 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
599 SHW001 Shwartzman Phenomenon 35
600 LPB001 Lipoblastoma 35
601 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
602 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 35
603 c CTR174 Cataract 40 35
604 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
605 c CTR122 Cataract 5, Multiple Types 35
606 NNT024 Neonatal Stroke 35
607 INT020 Intravenous Leiomyomatosis 35
608 c CTR115 Cataract 16, Multiple Types 35
609 c RTN046 Retinitis Pigmentosa 17 35
610 c RTN044 Retinitis Pigmentosa 14 35
611 GLT005 Glutamate Formiminotransferase Deficiency 35
612 PLY036 Polyembryoma 35
613 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
614 c SPS021 Spastic Paraplegia 10 35
615 c ZMM002 Zimmermann-Laband Syndrome 1 35
616 c MYC068 Myoclonic Epilepsy of Infancy 34
617 OMS001 Omsk Hemorrhagic Fever 34
618 GRN022 Granulosa Cell Tumor of the Ovary 34
619 MCR183 Microcephaly-Capillary Malformation Syndrome 34
620 CHR501 Chromosome 17q12 Deletion Syndrome 34
621 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 34
622 c RNG020 Ring Chromosome 4 34
623 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 34
624 RMN001 Rumination Disorder 34
625 c CTR145 Cataract 44 34
626 P MTP005 Metaphyseal Anadysplasia 34
627 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
628 BWN006 Bowen's Disease 34
629 c SCH080 Schizophrenia 3 34
630 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
631 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34
632 c MYP081 Myopathy, Myofibrillar, 6 34
633 SPT023 Septate Uterus 34
634 LMN011 Laminopathy 34
635 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 34
636 c RST012 Restless Legs Syndrome 1 34
637 ISL109 Isolated Cleft Lip 34
638 P MYC026 Myoclonus Epilepsy 34
639 ARG001 Argentine Hemorrhagic Fever 34
640 SCL025 Scleromyxedema 34
641 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
642 PHT008 Photosensitive Epilepsy 34
643 ATH010 Athyreosis 34
644 c RNG004 Ring Chromosome 1 34
645 TRS002 Tarsal-Carpal Coalition Syndrome 34
646 c SYM022 Symphalangism, Proximal, 1a 34
647 c PLY136 Polydactyly, Preaxial I 34
648 c PRT059 Parietal Foramina 1 34
649 TXC020 Toxic Oil Syndrome 34
650 P ZMM001 Zimmermann-Laband Syndrome 34
651 P CXV002 Coxa Vara 34
652 HYP682 Hypertelorism, Teebi Type 34
653 SCR039 Scorpion Envenomation 34
654 SRC011 Sarcocystosis 34
655 P ECT002 Ectomesenchymoma 34
656 c RTN067 Retinitis Pigmentosa 41 34
657 BRN041 Bornholm Eye Disease 34
658 c ANT023 Anterior Scleritis 33
659 PST103 Postpartum Psychosis 33
660 SLP010 Slipped Capital Femoral Epiphysis 33
661 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 33
662 NNS011 Nonseminomatous Germ Cell Tumor 33
663 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 33
664 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
665 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 33
666 CND006 Candida Glabrata 33
667 P CHR084 Chromosomal Disease 33
668 c SPR094 Sporadic Pheochromocytoma 33
669 c WLL036 Weill-Marchesani Syndrome 1 33
670 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
671 DPH003 Diphyllobothriasis 33
672 MLT035 Multifocal Choroiditis 33
673 CLC017 Calcification of Joints and Arteries 33
674 RFL002 Reflex Epilepsy 33
675 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
676 NVS007 Nevus of Ota 33
677 c RTN036 Retinal Cone Dystrophy 4 33
678 P DXT004 Dextro-Looped Transposition of the Great Arteries 33
679 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
680 c BRT052 Bartter Syndrome, Type 1, Antenatal 33
681 c CCK002 Cockayne Syndrome Type I 33
682 PRX009 Paroxysmal Hemicrania 33
683 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 33
684 P NNT042 Neonatal Lupus Erythematosus 33
685 HRD218 Hereditary Stomatocytosis 33
686 CRD016 Cardiac Rupture 33
687 c WLL040 Weill-Marchesani Syndrome 4 33
688 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 33
689 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 33
690 c PLY149 Polydactyly, Preaxial Iv 33
691 c GLC083 Glaucoma 3, Primary Infantile, B 33
692 ASH001 Asherman's Syndrome 33
693 PPL050 Papillary Tumor of the Pineal Region 33
694 IDP031 Idiopathic Hypersomnia 32
695 c SCH056 Schizophrenia 15 32
696 ODN005 Odontogenic Myxoma 32
697 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 32
698 CHR387 Chromosome Xp21 Deletion Syndrome 32
699 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 32
700 MYC014 Mycobacterium Chelonae 32
701 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 32
702 c OMD001 Omodysplasia 1 32
703 CYT004 Cytomegalic Inclusion Disease 32
704 HGH041 High-Grade Astrocytoma 32
705 MYS016 Myosclerosis, Autosomal Recessive 32
706 c DYS146 Dystonia 24 32
707 PRP093 Pierpont Syndrome 32
708 NNN007 Non-Involuting Congenital Hemangioma 32
709 MXD032 Mixed Germ Cell Tumor 32
710 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
711 c BRG006 Brugada Syndrome 2 32
712 PST063 Postsynaptic Congenital Myasthenic Syndromes 32
713 EXN003 Exencephaly 32
714 MSC020 Mosaic Trisomy 8 32
715 SLF015 Self-Improving Collodion Baby 32
716 c GCH013 Gaucher Disease, Type Iiic 32
717 c SPN299 Spinocerebellar Ataxia 20 32
718 RFR009 Refractory Cytopenia with Multilineage Dysplasia 32
719 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
720 GLY061 Glycogen Storage Disease 0, Muscle 32
721 INT104 Intravascular Papillary Endothelial Hyperplasia 32
722 ODN006 Odontoma 32
723 ANG062 Angioosteohypertrophic Syndrome 32
724 c SCK010 Seckel Syndrome 4 32
725 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
726 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 32
727 c CTR129 Cataract 31, Multiple Types 31
728 c TRN009 Transient Hypogammaglobulinemia of Infancy 31
729 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 31
730 STT009 Sutton Disease 2 31
731 PRX097 Paroxysmal Dystonia 31
732 c CTR102 Cataract 2, Multiple Types 31
733 CHR523 Chromosome 15q11.2 Deletion Syndrome 31
734 c SCK011 Seckel Syndrome 5 31
735 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 31
736 ENC014 Enchondroma 31
737 SNG003 Single Ventricular Heart 31
738 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 31
739 c MLG145 Malignant Epithelioid Hemangioendothelioma 31
740 XNT002 Xanthogranulomatous Cholecystitis 31
741 ALP048 Alopecia Totalis 31
742 PRG023 Progeroid Short Stature with Pigmented Nevi 31
743 ANH001 Ainhum 31
744 c HYP597 Hyperprolinemia, Type Ii 31
745 c RTN051 Retinitis Pigmentosa 22 31
746 P RTS001 Ritscher-Schinzel Syndrome 31
747 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
748 c CNG562 Congenital Hypogonadotropic Hypogonadism 31
749 MYC019 Mycobacterium Marinum 31
750 HGH020 High Molecular Weight Kininogen Deficiency 31
751 MTH047 Methanol Poisoning 31
752 MYP064 Myopericytoma 31
753 ISL011 Isolated Aniridia 31
754 MCL018 Macular Dystrophy, Concentric Annular 31
755 PRC051 Paracetamol Poisoning 31
756 c PRG101 Progressive Familial Heart Block, Type Ii 31
757 c MYS011 Myasthenia Gravis Congenital 31
758 c HYP515 Hypotrichosis 3 31
759 RSP007 Respiratory Distress Syndrome, Infant 31
760 CHR582 Chromosome 3q29 Duplication Syndrome 31
761 ANP008 Anaplastic Oligoastrocytoma 31
762 DRF001 Dirofilariasis 31
763 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 31
764 GBR007 Gabriele-De Vries Syndrome 30
765 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 30
766 GNT019 Giant Cell Myocarditis 30
767 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
768 c PRM316 Primary Congenital Hypothyroidism 30
769 ECT108 Ectodermal Dysplasia and Immunodeficiency 1 30
770 ELS002 Elastosis Perforans Serpiginosa 30
771 CRN273 Corneal Dystrophy, Subepithelial Mucinous 30
772 ACT228 Acute Radiation Syndrome 30
773 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
774 MTR087 Maternal Uniparental Disomy 30
775 P HRT017 Heart Tumor 30
776 c BRT039 Baraitser-Winter Syndrome 2 30
777 IDP041 Idiopathic Recurrent Pericarditis 30
778 TRP020 Tropical Endomyocardial Fibrosis 30
779 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 30
780 ENG004 Engraftment Syndrome 30
781 P VTR008 Vitreoretinal Degeneration 30
782 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 30
783 c ERL004 Early Yaws 30
784 GRN033 Granulomatous Mastitis 30
785 c LYS020 Loeys-Dietz Syndrome 5 30
786 c CNG188 Congenital Disorder of Glycosylation, Type if 30
787 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 30
788 SPN340 Spontaneous Intracranial Hypotension 30
789 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
790 ANK010 Ankylostomiasis 30
791 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 30
792 c WRD010 Waardenburg Syndrome Type 4 30
793 P VNM004 Van Maldergem Syndrome 30
794 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
795 c ANG045 Angioedema, Hereditary, Type Iii 30
796 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 30
797 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
798 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 30
799 c CNG020 Congenital Hypogammaglobulinemia 30
800 c EPL188 Epilepsy, Progressive Myoclonic, 10 30
801 MYC069 Myoclonic-Astastic Epilepsy 30
802 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 30
803 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
804 CLS047 Classic Progressive Supranuclear Palsy Syndrome 30
805 c NLX003 Neu-Laxova Syndrome 2 30
806 MTG001 Metagonimiasis 30
807 CRN051 Craniofacial Microsomia 30
808 PMP009 Pemphigus Erythematosus 29
809 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
810 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 29
811 c RNG018 Ring Chromosome 22 29
812 ANG050 Angiocentric Glioma 29
813 c RNG008 Ring Chromosome 13 29
814 P IDP090 Idiopathic Eosinophilic Pneumonia 29
815 TMP019 Temporomandibular Joint Anomaly 29
816 CRN235 Corneal Dystrophy, Groenouw Type I 29
817 CLC010 Calcifying Epithelial Odontogenic Tumor 29
818 CTC004 Catecholamine-Producing Tumor 29
819 HMC012 Hemicrania Continua 29
820 c SCH064 Schizophrenia 10 29
821 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
822 PTT063 Pattern Dystrophy 29
823 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 29
824 DGT009 Digitotalar Dysmorphism 29
825 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 29
826 ATH004 Athetosis 29
827 P DVL012 Developmental Dysplasia of the Hip 1 29
828 c MLG133 Malignant Ectomesenchymoma 29
829 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 29
830 RNG003 Ring Dermoid of Cornea 29
831 SLR005 Solar Urticaria 29
832 RHM034 Rahman Syndrome 29
833 PRS120 Persistent Idiopathic Facial Pain 29
834 c CTR181 Cataract 18 29
835 PDT027 Pediatric Ulcerative Colitis 29
836 WRF003 Warfarin Syndrome 29
837 P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 29
838 LPG001 Lipogranulomatosis 29
839 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
840 UNV002 Univentricular Heart 29
841 CLB009 Coloboma of Iris 29
842 SCR024 Sacrococcygeal Teratoma 29
843 c ERL012 Early-Onset Glaucoma 29
844 UVL009 Uvula, Bifid 29
845 P KNB001 Knobloch Syndrome 29
846 HYL005 Hyaline Body Myopathy 29
847 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 29
848 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 29
849 SPT016 Septopreoptic Holoprosencephaly 28
850 BJL001 Bejel 28
851 ARG004 Argyria 28
852 SPR038 Supranuclear Ocular Palsy 28
853 RDC010 Reducing Body Myopathy 28
854 INN003 Iniencephaly 28
855 c RNG005 Ring Chromosome 10 28
856 c EPL155 Epilepsy, Progressive Myoclonic, 8 28
857 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
858 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
859 KLB004 Klebsiella Infection 28
860 c MLT094 Multiple Sclerosis 3 28
861 END051 Endolymphatic Sac Tumor 28
862 BRN055 Bronchogenic Cyst 28
863 KRN007 Kerion Celsi 28
864 FRS007 Frias Syndrome 28
865 c CTR175 Cataract 24 28
866 QLT008 Qualitative or Quantitative Defects of Dysferlin 28
867 CTR027 Cataract-Glaucoma 28
868 P ACT241 Acute Bilirubin Encephalopathy 28
869 MST020 Mast Cell Activation Syndrome 28
870 LYS029 Lysosomal Disease 28
871 c ACQ043 Acquired Lipodystrophy 28
872 c CTR166 Cataract 33, Multiple Types 28
873 c SCH073 Schizophrenia 9 28
874 c RTN068 Retinitis Pigmentosa 6 28
875 c BRG003 Brugada Syndrome 3 28
876 KCN010 Kcnq2-Related Disorders 28
877 DGT002 Digital Clubbing, Isolated Congenital 28
878 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
879 TRC038 Tracheobronchomegaly 28
880 c RNG022 Ring Chromosome 6 28
881 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 28
882 WLD004 Wildervanck Syndrome 28
883 c CLR066 Ciliary Dyskinesia, Primary, 2 28
884 PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 28
885 LRY026 Laryngeal Cleft 28
886 PSY012 Psychogenic Movement 28
887 c NML007 Nemaline Myopathy 6 28
888 c NML022 Nemaline Myopathy 10 28
889 c RNG016 Ring Chromosome 20 28
890 CYT018 Cytochrome P450 2d6 Variant 28
891 CLV004 Calvarial Hyperostosis 28
892 P MTR051 Maternal Uniparental Disomy of Chromosome 1 28
893 c PLM121 Pulmonary Hypertension, Primary, 4 28
894 OVR097 Ovarian Fibrothecoma 28
895 PYR025 Pyruvate Dehydrogenase E2 Deficiency 28
896 c ICH023 Ichthyosis, Acquired 28
897 GLD003 Goldmann-Favre Syndrome 28
898 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 28
899 CNG065 Congenital Contractures 28
900 P CRY006 Cryofibrinogenemia 28
901 CHR399 Chromosome 4q21 Deletion Syndrome 28
902 P PLT008 Pili Torti 28
903 c SCH087 Schizophrenia 18 28
904 c PRT060 Parietal Foramina 2 28
905 c EPL134 Epilepsy, Progressive Myoclonic 7 27
906 c HRD212 Hereditary Episodic Ataxia 27
907 RFR007 Refractory Anemia with Excess Blasts in Transformation 27
908 CMB015 Combined Oxidative Phosphorylation Deficiency 4 27
909 c INT274 Intermediate Congenital Nemaline Myopathy 27
910 RHM015 Rhombencephalosynapsis 27
911 c HYP577 Hypotrichosis 13 27
912 PSD040 Pseudomyotonia 27
913 CRL001 Cerulean Cataract 27
914 c CLR090 Ciliary Dyskinesia, Primary, 22 27
915 c EPL210 Epilepsy, Progressive Myoclonic, 6 27
916 c TRC073 Treacher Collins Syndrome 2 27
917 DFC001 Defective Apolipoprotein B-100 27
918 PDT040 Pediatric Hypertension 27
919 MSM016 Mesomelic Dysplasia, Kantaputra Type 27
920 c RNG010 Ring Chromosome 15 27
921 c RNG015 Ring Chromosome 2 27
922 c CLR094 Ciliary Dyskinesia, Primary, 28 27
923 c RTN060 Retinitis Pigmentosa 31 27
924 c BRG010 Brugada Syndrome 8 27
925 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 27
926 MLD011 Mild Hyperphenylalaninemia 27
927 IGG014 Igg4-Related Sclerosing Cholangitis 27
928 P PRG139 Progeroid Syndrome 27
929 c CLR114 Ciliary Dyskinesia, Primary, 30 27
930 PST044 Postorgasmic Illness Syndrome 27
931 DMT001 Dimethylglycine Dehydrogenase Deficiency 27
932 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 27
933 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
934 QNQ001 Quinquaud's Decalvans Folliculitis 27
935 c CTR158 Cataract 37 27
936 PTC005 Pituicytoma 27
937 PRT086 Partial Hydatidiform Mole 27
938 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 27
939 CLF049 Cleft Lip and Alveolus 27
940 THY042 Thymic Epithelial Tumor 27
941 c BRG004 Brugada Syndrome 4 27
942 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 27
943 HYP644 Hypocalcified Amelogenesis Imperfecta 27
944 ACT094 Acute Articular Rheumatism 27
945 CRT028 Cor Triatriatum 27
946 c EPL154 Epilepsy, Progressive Myoclonic, 9 27
947 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 27
948 CMB017 Combined Oxidative Phosphorylation Deficiency 6 27
949 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
950 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 27
951 c VNM002 Van Maldergem Syndrome 2 27
952 SPC030 Specific Language Disorder 27
953 PRM050 Primary Orthostatic Tremor 27
954 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
955 c SCH081 Schizophrenia 6 27
956 PTT016 Patterson Pseudoleprechaunism Syndrome 27
957 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
958 MYC018 Mycobacterium Malmoense 26
959 HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 26
960 c MYP098 Myopathy, Centronuclear, 4 26
961 LSN002 Loose Anagen Hair Syndrome 26
962 HYP160 Hyperkeratosis Lenticularis Perstans 26
963 WLL012 Williams-Beuren Region Duplication Syndrome 26
964 c CLR125 Ciliary Dyskinesia, Primary, 33 26
965 P MYM016 Moyamoya Angiopathy 26
966 P PST016 Posterior Polar Cataract 26
967 PTY004 Pityriasis Lichenoides 26
968 PSD026 Pseudoainhum 26
969 NNT021 Neonatal Meningitis 26
970 c PRK075 Porokeratosis 7, Multiple Types 26
971 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
972 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 26
973 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
974 c EPL207 Epilepsy, Progressive Myoclonic, 1b 26
975 AML011 Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 26
976 STN013 Stenotrophomonas Maltophilia Infection 26
977 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 26
978 c CLR095 Ciliary Dyskinesia, Primary, 19 26
979 NRL008 Neural Crest Tumor 26
980 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
981 IRN007 Irinotecan Toxicity 26
982 c CTR180 Cataract 22, Multiple Types 26
983 PNT005 Pentalogy of Cantrell 26
984 c CLR042 Ciliary Dyskinesia, Primary, 6 26
985 MYC021 Mycobacterium Xenopi 26
986 c SPS072 Spastic Ataxia 1, Autosomal Dominant 26
987 PTN004 Patent Ductus Venosus 26
988 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
989 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
990 GGN004 Gigantomastia 26
991 CBB002 Cobb Syndrome 26
992 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
993 SKR001 Skraban-Deardorff Syndrome 26
994 c RNG017 Ring Chromosome 21 26
995 c BRG009 Brugada Syndrome 7 26
996 P HRD207 Hereditary Transthyretin Amyloidosis 26
997 SNC001 Sunct Headache 26
998 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 26
999 c CLR097 Ciliary Dyskinesia, Primary, 23 26
1000 c TRS012 Trisomy 22 26
1001 c PSD107 Pseudo-Torch Syndrome 2 26
1002 CNG506 Congenital Amyoplasia 26
1003 ACR099 Acrofacial Dysostosis, Catania Type 26
1004 P PLM069 Pulmonary Venous Return Anomaly 26
1005 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 26
1006 CHR229 Chromosome 20p Duplication 26
1007 c CLR134 Ciliary Dyskinesia, Primary, 3 26
1008 c SPN098 Spinocerebellar Ataxia 25 26
1009 c CLR123 Ciliary Dyskinesia, Primary, 37 26
1010 CNG489 Congenital Herpes Simplex Virus Infection 26
1011 EPP010 Epiphysiolysis of the Hip 26
1012 BRT037 Brittle Diabetes 26
1013 CRY010 Cryptophthalmos 25
1014 INV018 Invasive Mole 25
1015 c CLR117 Ciliary Dyskinesia, Primary, 32 25
1016 c NML025 Nemaline Myopathy 8 25
1017 DSM006 Desmoplastic Infantile Ganglioglioma 25
1018 c RNG007 Ring Chromosome 12 25
1019 FGS002 Fg Syndrome 2 25
1020 PLM061 Pulmonary Edema of Mountaineers 25
1021 PRQ002 Paraquat Poisoning 25
1022 BLP041 Blepharochalasis and Double Lip 25
1023 c WLL038 Weill-Marchesani Syndrome 3 25
1024 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 25
1025 RGH006 Right Aortic Arch 25
1026 FXC001 Foix Chavany Marie Syndrome 25
1027 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 25
1028 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 25
1029 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 25
1030 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 25
1031 CRN128 Corneal Dystrophy, Endothelial, X-Linked 25
1032 CRN042 Carnosinemia 25
1033 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 25
1034 CHR190 Chromosome 12p Duplication 25
1035 FBR085 Fibrillary Glomerulonephritis 25
1036 c CTR116 Cataract 15, Multiple Types 25
1037 c MNS008 Monosomy 21 25
1038 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 25
1039 c CLR135 Ciliary Dyskinesia, Primary, 7 25
1040 OBS168 Obsolete: Atypical Teratoid/rhabdoid Tumor 25
1041 PNT016 Pontoneocerebellar Hypoplasia 25
1042 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 25
1043 TRY004 Trypanosomiasis, Human East-African 25
1044 SRP002 Serpiginous Choroiditis 25
1045 HMN001 Human Monocytic Ehrlichiosis 25
1046 c CLR116 Ciliary Dyskinesia, Primary, 29 25
1047 MYT026 Myotonia Atrophica 25
1048 HMP028 Hemophagocytic Syndrome Associated with an Infection 25
1049 PRT085 Peritoneal Cystic Mesothelioma 25
1050 c SCK029 Seckel Syndrome 7 25
1051 BRR004 Baroreflex Failure 25
1052 MCR039 Macrophagic Myofasciitis 25
1053 HRP011 Herpes Zoster Ophthalmicus 25
1054 CTN016 Cutaneous Larva Migrans 25
1055 HSB001 His Bundle Tachycardia 25
1056 16Q001 16q24.3 Microdeletion Syndrome 25
1057 ADG002 Audiogenic Seizures 25
1058 CHR248 Chromosome 4p Duplication 25
1059 c NML010 Nemaline Myopathy 7 25
1060 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
1061 TMF001 Tumefactive Multiple Sclerosis 25
1062 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 25
1063 c PSD068 Pseudohypoaldosteronism, Type Iic 25
1064 P TRS029 Trisomy 1q 25
1065 c ANT010 Anterior Compartment Syndrome 25
1066 P PHC014 Phocomelia 25
1067 P PPL026 Papular Mucinosis 25
1068 c SYS038 Systemic Lupus Erythematosus 2 25
1069 EXR007 Exercise-Induced Anaphylaxis 25
1070 ERY023 Erythroplakia 25
1071 P PRC050 Pericardium Disease 25
1072 P UNP013 Uniparental Disomy of Chromosome 1 25
1073 UND004 Undetermined Colitis 25
1074 STR029 Sternal Cleft 25
1075 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
1076 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
1077 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1078 c MYP119 Myopathy, Myofibrillar, 7 25
1079 P ACR093 Acrofrontofacionasal Dysostosis 25
1080 c PLY141 Polycystic Kidney Disease 5 25
1081 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 25
1082 RCK003 Rickettsialpox 25
1083 HYP213 Hypomelanotic Disorder 25
1084 P BLT016 Bilateral Polymicrogyria 25
1085 NKJ001 Nakajo Syndrome 25
1086 c CLR098 Ciliary Dyskinesia, Primary, 27 25
1087 BTT011 Butterfly-Shaped Pigment Dystrophy 25
1088 INS010 Insulin-Resistant Acanthosis Nigricans, Type a 25
1089 c HYP576 Hypotrichosis 4 25
1090 CMB045 Combined Oxidative Phosphorylation Deficiency 19 25
1091 c TRC071 Treacher Collins Syndrome 3 25
1092 SRN002 Sirenomelia 25
1093 c RNG013 Ring Chromosome 18 25
1094 c CLR104 Ciliary Dyskinesia, Primary, 15 25
1095 DSS025 Dissociative Seizures 25
1096 CYN003 Cyanide Poisoning 24
1097 c FNG009 Feingold Syndrome 2 24
1098 CHR265 Chromosome 8p Duplication 24
1099 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
1100 GNR023 Generalized Eruptive Histiocytosis 24
1101 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 24
1102 LGP003 Logopenic Progressive Aphasia 24
1103 c MLT093 Multiple Sclerosis 2 24
1104 GRD004 Gardner-Diamond Syndrome 24
1105 c MLT060 Multiple Synostoses Syndrome 2 24
1106 c BRG012 Brugada Syndrome 9 24
1107 c ALT008 Alternating Hemiplegia of Childhood 1 24
1108 c SHW007 Shwachman-Diamond Syndrome 2 24
1109 DRG016 Drug Induced Dyskinesia 24
1110 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 24
1111 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
1112 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 24
1113 NNT018 Neonatal Herpes 24
1114 TRC037 Tracheobronchomalacia 24
1115 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 24
1116 c CTR131 Cataract 17, Multiple Types 24
1117 CHR212 Chromosome 18p Duplication 24
1118 c VND004 Van Der Woude Syndrome 2 24
1119 c ALP099 Alopecia, Congenital 24
1120 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 24
1121 P ACR072 Acrorenal Syndrome 24
1122 ELC001 Elective Mutism 24
1123 c CTR182 Cataract 23, Multiple Types 24
1124 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1125 c CLR136 Ciliary Dyskinesia, Primary, 9 24
1126 P STR035 Streptococcal Group a Invasive Disease 24
1127 OLG014 Oligocone Trichromacy 24
1128 c JVN047 Juvenile Spondyloarthropathy 24
1129 c CLR140 Ciliary Dyskinesia, Primary, 40 24
1130 c CTR111 Cataract 36 24
1131 PHS010 Phosphoglycerate Mutase Deficiency 24
1132 NN2002 Non 24 Hour Sleep Wake Disorder 24
1133 SHP003 Shapiro Syndrome 24
1134 P NNT006 Neonatal Myasthenia Gravis 24
1135 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 24
1136 NCL007 Nuclear Gene-Encoded Leigh Syndrome 24
1137 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 24
1138 EF001 Eaf 24
1139 NCR014 Necrotizing Soft Tissue Infection 24
1140 c CTR124 Cataract 10, Multiple Types 24
1141 CHR209 Chromosome 17p Duplication 24
1142 PNL023 Penile Agenesis 24
1143 c CLR091 Ciliary Dyskinesia, Primary, 14 24
1144 HRN018 Hearing Loss, Cisplatin-Induced 24
1145 MRN005 Marie Unna Congenital Hypotrichosis 24
1146 c CTR165 Cataract 19, Multiple Types 24
1147 c EPS034 Episodic Ataxia, Type 5 24
1148 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 24
1149 OVR098 Ovarian Fibroma 24
1150 c MLG148 Malignant Hyperthermia 2 24
1151 c ATX024 Ataxia-Oculomotor Apraxia 3 24
1152 c ERL003 Early Onset Absence Epilepsy 24
1153 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1154 c RNG021 Ring Chromosome 5 24
1155 OBS635 Obsolete: Laryngeal Dyskinesia 24
1156 PTR034 Paternal Uniparental Disomy 24
1157 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 24
1158 KR001 Koro 24
1159 c CHR565 Chromosomal Deletion Syndrome 24
1160 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 24
1161 c CLR092 Ciliary Dyskinesia, Primary, 18 24
1162 RTR012 Retroperitoneal Liposarcoma 24
1163 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 24
1164 c SCH053 Schizophrenia 13 24
1165 GNT043 Genitopalatocardiac Syndrome 24
1166 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1167 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 24
1168 c MYP118 Myopathy, Myofibrillar, 8 24
1169 c CTR105 Cataract 12, Multiple Types 24
1170 AML005 Amelogenesis Imperfecta Hypomaturation Type 24
1171 c ATS432 Autosomal Dominant Distal Myopathy 24
1172 CMP092 Complement Component 8 Deficiency, Type Ii 24
1173 c SCH075 Schizophrenia 19 24
1174 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 24
1175 P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 24
1176 IGG008 Igg4-Related Mesenteritis 24
1177 TRG006 Trigger Thumb 24
1178 INT277 Intellectual Disability-Developmental Delay-Contractures Syndrome 24
1179 P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 24
1180 c ADL080 Adult Acute Respiratory Distress Syndrome 24
1181 DPS001 Dipsogenic Diabetes Insipidus 24
1182 CNG092 Congenital Extrahepatic Portosystemic Shunt 24
1183 c CLR105 Ciliary Dyskinesia, Primary, 20 24
1184 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
1185 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
1186 ULC008 Ulcerative Proctitis 24
1187 c SPS027 Spastic Paraplegia 17 24
1188 c PRT063 Proteus-Like Syndrome 24
1189 c RNG024 Ring Chromosome 8 23
1190 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 23
1191 LKN007 Leukonychia Totalis 23
1192 c WSK002 Wiskott-Aldrich Syndrome 2 23
1193 c RTS002 Ritscher-Schinzel Syndrome 2 23
1194 INC004 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 23
1195 PSD030 Pseudodiastrophic Dysplasia 23
1196 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 23
1197 KLB005 Kleeblattschaedel 23
1198 P TRC034 Torch Syndrome 23
1199 c CTR136 Cataract 41 23
1200 SDD004 Sudden Arrhythmia Death Syndrome 23
1201 P ART034 Aortopulmonary Window 23
1202 c LTH039 Lethal Congenital Contracture Syndrome 11 23
1203 c CTR110 Cataract 26, Multiple Types 23
1204 c SYN088 Synpolydactyly 2 23
1205 c LNG046 Long Qt Syndrome 11 23
1206 c CLR059 Ciliary Dyskinesia, Primary, 13 23
1207 c PLT022 Pili Torti, Early-Onset 23
1208 DBL004 Double Discordia 23
1209 c SCH045 Schizophrenia 12 23
1210 c NML021 Nemaline Myopathy 9 23
1211 c JVN015 Juvenile Huntington Disease 23
1212 MNC020 Monoclonal Mast Cell Activation Syndrome 23
1213 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 23
1214 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1215 c HTR018 Heterotaxy, Visceral, 7, Autosomal 23
1216 P PLM064 Pulmonary Sequestration 23
1217 TTR027 Tetrasomy 15q26 23
1218 CHR208 Chromosome 17p Deletion 23
1219 c GNR020 Gne-Related Myopathy 23
1220 c CLR102 Ciliary Dyskinesia, Primary, 17 23
1221 c CTR183 Cataract 38 23
1222 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
1223 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 23
1224 c RTN032 Retinal Cone Dystrophy 1 23
1225 ABR001 Aberrant Subclavian Artery 23
1226 FNC050 Functioning Gonadotropic Adenoma 23
1227 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
1228 PRX086 Paroxysmal Exertion-Induced Dyskinesia 23
1229 CCN009 Cocaine Intoxication 23
1230 JMP002 Jumping Frenchmen of Maine 23
1231 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 23
1232 MNR004 Mounier-Kuhn Syndrome 23
1233 c HTR023 Heterotaxy, Visceral, 6, Autosomal 23
1234 PRP090 Peripheral Dysostosis 23
1235 c WRD022 Waardenburg Syndrome, Type 2d 23
1236 PRX096 Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 23
1237 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
1238 SCH055 Schilbach-Rott Syndrome 23
1239 WLD006 Wild Type Abeta2m Amyloidosis 23
1240 P RTN102 Retinitis Pigmentosa, Y-Linked 23
1241 ORF053 Orofacial Clefting Syndrome 23
1242 c SCH083 Schizophrenia 7 23
1243 HVY002 Heavy Metal Poisoning 23
1244 c SCK037 Seckel Syndrome 9 23
1245 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 23
1246 CHR247 Chromosome 4p Deletion 23
1247 CNG418 Congenital Intrauterine Infection-Like Syndrome 23
1248 HYP181 Hypertrichosis Lanuginosa, Acquired 23
1249 c CLR107 Ciliary Dyskinesia, Primary, 24 23
1250 c CTR125 Cataract 7 23
1251 c CLR106 Ciliary Dyskinesia, Primary, 26 23
1252 CMB052 Combined Oxidative Phosphorylation Deficiency 20 23
1253 c CLR139 Ciliary Dyskinesia, Primary, 39 23
1254 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 23
1255 VBR003 Vibrio Vulnificus Infection 23
1256 ISL135 Isolated Dystonia 23
1257 ART109 Arterial Thoracic Outlet Syndrome 23
1258 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 23
1259 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 23
1260 c SCK038 Seckel Syndrome 10 23
1261 DMD001 Demodicidosis 23
1262 P ACR020 Acropectorovertebral Dysplasia 23
1263 PRX034 Peroxisome Disorders 23
1264 TMP008 Tempi Syndrome 22
1265 INT093 Interferon Gamma, Receptor 1, Deficiency 22
1266 EPL011 Epilepsy, Benign Occipital 22
1267 AXL004 Axial Mesodermal Dysplasia Spectrum 22
1268 MYC016 Mycobacterium Gordonae 22
1269 OBS507 Obsolete: Small Pox 22
1270 c EPS037 Episodic Ataxia, Type 4 22
1271 c FCL056 Facial Paresis, Hereditary Congenital, 3 22
1272 c ATS438 Autosomal Recessive Spastic Ataxia 22
1273 PRL021 Perilymphatic Fistula 22
1274 OBS529 Obsolete: Combined Hyperlipidemia 22
1275 LPY002 Lipoyltransferase 1 Deficiency 22
1276 CRN266 Craniofacial Dyssynostosis with Short Stature 22
1277 OCL070 Oculopalatocerebral Syndrome 22
1278 RDL022 Radial Hemimelia 22
1279 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 22
1280 CGN001 Cogan-Reese Syndrome 22
1281 c CTR162 Cataract 47 22
1282 c CLR054 Ciliary Dyskinesia, Primary, 12 22
1283 RFS003 Refsum Disease, Infantile Form 22
1284 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 22
1285 P OTP002 Otopalatodigital Spectrum Disorders 22
1286 PLL009 Pellucid Marginal Degeneration 22
1287 LRY028 Laryngocele 22
1288 c CTR169 Cataract 29 22
1289 GRW021 Growing Teratoma Syndrome 22
1290 DYS038 Dysgnathia Complex 22
1291 c RNG019 Ring Chromosome 3 22
1292 c CLR053 Ciliary Dyskinesia, Primary, 11 22
1293 c ACR103 Acrofrontofacionasal Dysostosis 1 22
1294 CHR243 Chromosome 3p Deletion 22
1295 HML018 Homologous Wasting Disease 22
1296 c CTR184 Cataract 39, Multiple Types 22
1297 PST040 Posterior Column Ataxia 22
1298 c CNG514 Congenital Radioulnar Synostosis 22
1299 c BRG008 Brugada Syndrome 6 22
1300 LMB009 Lambdoid Synostosis 22
1301 c GLC054 Glaucoma 3, Primary Congenital, D 22
1302 HYP690 Hyper-Beta-Alaninemia 22
1303 c SYS040 Systemic Lupus Erythematosus 10 22
1304 P ERL043 Early-Onset Nuclear Cataract 22
1305 c MCL073 Macular Dystrophy, Vitelliform, 1 22
1306 ISL116 Isolated Complex Iii Deficiency 22
1307 c ADL068 Adult-Onset Nemaline Myopathy 22
1308 c CLR101 Ciliary Dyskinesia, Primary, 25 22
1309 ETH012 Ethylene Glycol Poisoning 22
1310 DSS022 Disseminated Peritoneal Leiomyomatosis 22
1311 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 22
1312 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
1313 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1314 c ACR105 Acrofrontofacionasal Dysostosis 2 22
1315 c ICH014 Ichthyosis Lamellar 1 22
1316 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
1317 c EPP009 Epiphyseal Dysplasia, Multiple, 6 22
1318 c CLR056 Ciliary Dyskinesia, Primary, 10 22
1319 ADS015 Aids Wasting Syndrome 22
1320 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 22
1321 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
1322 MDL024 Madelung Deformity 22
1323 NWD001 New Daily-Persistent Headache 22
1324 c CLR138 Ciliary Dyskinesia, Primary, 38 22
1325 PSD043 Pseudopelade of Brocq 22
1326 MYP060 Myopic Macular Degeneration 22
1327 CGH002 Cough Headache 22
1328 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1329 c CTR187 Cataract 48 22
1330 OBS097 Obsolete: Heinz Body Anemia 22
1331 c HYP578 Hypotrichosis 12 22
1332 ERY043 Euryblepharon 22
1333 c HYP832 Hypotrichosis 14 22
1334 BNT001 Banti's Syndrome 22
1335 P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 22
1336 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1337 MNS012 Monostotic Fibrous Dysplasia 22
1338 c PSD047 Pseudo-Turner Syndrome 22
1339 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1340 CMB051 Combined Oxidative Phosphorylation Deficiency 21 22
1341 c FBR079 Fibromatosis, Gingival, 2 21
1342 INT095 Internal Carotid Agenesis 21
1343 P RTN220 Retinal Ciliopathy 21
1344 MTC115 Mitochondrial Myopathy, Lethal, Infantile 21
1345 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
1346 c EPP026 Epiphyseal Dysplasia, Multiple, 7 21
1347 c GNS004 Geniospasm 1 21
1348 PRN068 Paraneoplastic Limbic Encephalitis 21
1349 c INF186 Infectious Encephalitis 21
1350 c SYS046 Systemic Lupus Erythematosus 3 21
1351 LPS019 Lupus Erythematosus Tumidus 21
1352 HTR005 Heterochromia Iridis 21
1353 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 21
1354 CGT001 Ciguatera Fish Poisoning 21
1355 ATR052 Atrophic Lichen Planus 21
1356 c CTR163 Cataract 46, Juvenile-Onset 21
1357 DST011 Distal Chromosome 18q Deletion Syndrome 21
1358 SPS087 Spasmus Nutans 21
1359 c MLG149 Malignant Hyperthermia 3 21
1360 c PRM200 Primary Fanconi Syndrome 21
1361 RCK009 Rickettsial Disease 21
1362 P SCN067 Scn1a Seizure Disorders 21
1363 PLR024 Pilarowski-Bjornsson Syndrome 21
1364 c SPS198 Spastic Paraplegia 16, X-Linked 21
1365 SCH024 Schinzel Giedion Syndrome 21
1366 FNT003 Fountain Syndrome 21
1367 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 21
1368 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 21
1369 SCD003 Scedosporiosis 21
1370 c SYS053 Systemic Lupus Erythematosus 5 21
1371 MTC144 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 21
1372 c MLG150 Malignant Hyperthermia 4 21
1373 c STC007 Stickler Syndrome, Type 3 21
1374 QLT002 Qualitative or Quantitative Defects of Dystrophin 21
1375 URT052 Urticaria, Aquagenic 21
1376 KRB005 Krabbe Disease, Atypical, Due to Saposin a Deficiency 21
1377 c MRD001 Marden Walker Like Syndrome 21
1378 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 21
1379 c SPS023 Spastic Paraplegia 13 21
1380 P CTS012 Cutis Verticis Gyrata 21
1381 CRT060 Cor Triatriatum Sinister 21
1382 GLC025 Galactorrhoea-Hyperprolactinaemia 21
1383 c ANR027 Aneurysm, Intracranial Berry, 1 21
1384 CLC053 Colchicine Poisoning 21
1385 OVR108 Ovarian Sex Cord Tumor with Annular Tubules 21
1386 MTR027 Mitral Atresia 21
1387 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
1388 c SCK033 Seckel Syndrome 8 21
1389 NTH002 Nathalie Syndrome 21
1390 c MCL061 Macular Dystrophy, Vitelliform, 4 21
1391 c CHR692 Chronic Encephalitis 21
1392 BRN126 Brenner Tumor of Ovary 21
1393 NDD001 Nodding Syndrome 21
1394 c HTR020 Heterotaxy, Visceral, 8, Autosomal 21
1395 ECT085 Ectopia Cordis 21
1396 SGL002 Sagliker Syndrome 21
1397 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1398 P STR111 Stromal Corneal Dystrophy 21
1399 DSS012 Disseminated Infection with Mycobacterium Avium Complex 21
1400 GNR033 Generalized Eruptive Keratoacanthoma 21
1401 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 21
1402 TLN007 Telangiectasia, Hereditary Benign 21
1403 c RSM003 Rasmussen Subacute Encephalitis 21
1404 c SYS069 Systemic Lupus Erythematosus 6 21
1405 PLY039 Polymorphic Reticulosis 21
1406 ACR107 Acrofacial Dysostosis, Palagonia Type 21
1407 P RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 21
1408 DPR014 Diprosopus 21
1409 TRH001 Trehalase Deficiency 21
1410 EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 21
1411 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
1412 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 21
1413 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
1414 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
1415 HPS001 Hip Subluxation 20
1416 c EXS021 Exostoses, Multiple, Type Iii 20
1417 RFM002 Roifman-Chitayat Syndrome 20
1418 c SYM019 Symphalangism, Proximal, 1b 20
1419 2Q3001 2q37 Deletion Syndrome 20
1420 c MCL056 Macular Dystrophy, Vitelliform, 5 20
1421 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 20
1422 BLL015 Bullous Lichen Planus 20
1423 CYT017 Cytophagic Histiocytic Panniculitis 20
1424 c MLT124 Multiple Sclerosis 5 20
1425 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 20
1426 UNL013 Unilateral Absence of a Pulmonary Artery 20
1427 c CTR144 Cataract 43 20
1428 c RNG025 Ring Chromosome 9 20
1429 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 20
1430 STR033 Storm Syndrome 20
1431 NND001 Nondystrophic Myotonia 20
1432 c SYS051 Systemic Lupus Erythematosus 4 20
1433 PYT001 Pythiosis 20
1434 PST047 Post-Traumatic Epilepsy 20
1435 c CTR159 Cataract 35 20
1436 ATR053 Atresia of Urethra 20
1437 c SCH052 Schizophrenia 14 20
1438 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
1439 RTH002 Rutherfurd Syndrome 20
1440 c CTR097 Cataract 34, Multiple Types 20
1441 c ART131 Arthrogryposis, Distal, Type 4 20
1442 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 20
1443 c CTR185 Cataract 30 20
1444 c ZMM003 Zimmermann-Laband Syndrome 2 20
1445 CRT061 Cor Triatriatum Dexter 20
1446 KRT020 Keratoconus Posticus Circumscriptus 20
1447 c RNG012 Ring Chromosome 17 20
1448 RTC007 Reticular Perineurioma 20
1449 MSC017 Mosaic Trisomy 22 20
1450 CMB063 Combined Oxidative Phosphorylation Deficiency 25 20
1451 c SYS041 Systemic Lupus Erythematosus 9 20
1452 c CTR106 Cataract 20, Multiple Types 20
1453 CDL006 Caudal Regression Sequence 20
1454 c WHT015 White Sponge Nevus 2 20
1455 LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 20
1456 c SPN102 Spinocerebellar Ataxia 30 20
1457 CRN126 Corneal Dystrophy, Lisch Epithelial 20
1458 SPS090 Sepsis in Premature Infants 20
1459 c MTP014 Metaphyseal Anadysplasia 2 20
1460 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1461 c CRS018 Crisponi/cold-Induced Sweating Syndrome 3 20
1462 DHY008 Dihydroxyadeninuria 20
1463 CRN076 Crane-Heise Syndrome 20
1464 8PN001 8p Inverted Duplication/deletion Syndrome 20
1465 AND005 Androgen Insensitivity Syndrome, Mild 20
1466 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1467 c CTR139 Cataract 42 20
1468 c NNT025 Neonatal Systemic Lupus Erythematosus 20
1469 P CNG515 Congenital Zika Syndrome 20
1470 c EPL217 Epilepsy, Juvenile Myoclonic 10 20
1471 16P002 16p11.2 Deletion Syndrome 20
1472 MRF007 Marfanoid Hypermobility Syndrome 20
1473 CHR369 Chromosome Xq28 Duplication Syndrome 20
1474 HRP026 Herpetiform Pemphigus 20
1475 CRB072 Cerebral Palsy Athetoid 20
1476 c CHR686 Chronic Cutaneous Lupus Erythematosus 19
1477 SPN092 Spinal Shock 19
1478 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 19
1479 c SCK032 Seckel Syndrome 6 19
1480 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 19
1481 SPN349 Spondylometaphyseal Dysplasia, Type A4 19
1482 GLC039 Glucosephosphate Isomerase Deficiency 19
1483 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 19
1484 ALP088 Alpha-Fetoprotein, Hereditary Persistence of 19
1485 c WRD029 Waardenburg Syndrome, Type 2b 19
1486 c MLG152 Malignant Hyperthermia 6 19
1487 BRC100 Brachydactyly, Combined B and E Types 19
1488 DBL007 Double Outlet Left Ventricle 19
1489 FRN028 Furunculous Myiasis 19
1490 c INF047 Infantile Free Sialic Acid Storage Disease 19
1491 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 19
1492 c HYP528 Hypotrichosis 11 19
1493 EPG004 Epignathus 19
1494 LPS018 Lupus Erythematosus Panniculitis 19
1495 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1496 c CHR227 Chromosome 20 Trisomy 19
1497 CHR241 Chromosome 2q24 Microdeletion Syndrome 19
1498 c ATS454 Autosomal Trisomy 19
1499 CMB079 Combined Oxidative Phosphorylation Deficiency 29 19
1500 ISN001 Isoniazid Toxicity 19
1501 SMC003 Semicircular Canal Dehiscence Syndrome 19
1502 c RNG006 Ring Chromosome 11 19
1503 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 19
1504 c PRM150 Primary Localized Amyloidosis 19
1505 c SCN048 Secondary Syringomyelia 19
1506 BDR001 Bidirectional Tachycardia 19
1507 c PRK074 Porokeratosis 9, Multiple Types 19
1508 LVT001 Levator Syndrome 19
1509 LWF001 Low-Flow Priapism 19
1510 c MLT095 Multiple Sclerosis 4 19
1511 EGL001 Eagle Syndrome 19
1512 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
1513 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
1514 CLT002 Cluttering 19
1515 MDS024 Mediastinal Endodermal Sinus Tumors 19
1516 c TRM020 Tremor, Hereditary Essential, 2 19
1517 c SCH061 Schizophrenia 16 19
1518 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 19
1519 ISL082 Isolated Atp Synthase Deficiency 19
1520 BRH001 Boerhaave Syndrome 19
1521 MLG087 Malignant Cylindroma 19
1522 HYD031 Hydroxyprolinemia 19
1523 THN005 Thunderclap Headache 19
1524 TRN067 Transcobalamin I Deficiency 19
1525 c CTR160 Cataract 45 19
1526 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
1527 CLF021 Cleft Palate X-Linked 19
1528 PRD026 Pre-Descemet Corneal Dystrophy 19
1529 c SCH086 Schizophrenia 11 19
1530 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
1531 HNH001 Hanhart Syndrome 19
1532 LNR010 Linear Lichen Planus 19
1533 ODN020 Odontoma-Dysphagia Syndrome 19
1534 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
1535 c CTR121 Cataract 25 19
1536 BMF002 Bamforth Syndrome 19
1537 SBR012 Subaortic Stenosis, Membranous 19
1538 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 19
1539 c EPS033 Episodic Ataxia, Type 8 19
1540 PRM331 Primary Hypophysitis 19
1541 c CNG336 Congenital Analbuminemia 19
1542 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 19
1543 c UNP012 Uniparental Disomy of Chromosome 7 19
1544 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 19
1545 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 19
1546 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
1547 CRV062 Cervical Spina Bifida Cystica 19
1548 IGG009 Igg4-Related Ophthalmic Disease 19
1549 ISL067 Isolated Congenital Megalocornea 19
1550 MLT131 Multifocal Atrial Tachycardia 19
1551 c CNG121 Congenital Pulmonary Alveolar Proteinosis 19
1552 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 19
1553 IQS001 Iqsec2 19
1554 CYT006 Cytoplasmic Body Myopathy 19
1555 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 19
1556 EXT061 Extracardiac Rhabdomyoma 19
1557 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1558 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 19
1559 c EPS014 Episodic Ataxia, Type 3 19
1560 c RPP007 Rippling Muscle Disease 1 19
1561 CRB164 Cerebrooculonasal Syndrome 19
1562 c SPS022 Spastic Paraplegia 12 19
1563 SVR060 Severe X-Linked Intellectual Disability, Gustavson Type 19
1564 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 19
1565 LGR001 Laugier-Hunziker Syndrome 18
1566 c GLC089 Glaucoma 3, Primary Congenital, E 18
1567 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 18
1568 MCR330 Microphthalmia, Isolated, with Cataract 1 18
1569 TRT005 Teratoma with Malignant Transformation 18
1570 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 18
1571 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
1572 c PLY066 Polyposis Syndrome, Hereditary Mixed, 2 18
1573 c CNG579 Congenital Nemaline Myopathy 18
1574 STR007 Stress Polycythemia 18
1575 BNG086 Bangstad Syndrome 18
1576 ICH025 Ichthyosis, Follicular 18
1577 c SPS028 Spastic Paraplegia 18 18
1578 OCL057 Oculotrichodysplasia 18
1579 TRC052 Trichofolliculoma 18
1580 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
1581 RTN185 Retinal Dysplasia, Primary 18
1582 DYT005 Dyt-Thap1 18
1583 VNZ001 Venezuelan Hemorrhagic Fever 18
1584 GLT036 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to 18
1585 HHV001 Hhv-6 Encephalitis 18
1586 AMY010 Amyloidosis Beta2m 18
1587 TLN012 Telangiectasia Macularis Eruptiva Perstans 18
1588 c ANM039 Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 18
1589 ALP072 Alpha-Fetoprotein Deficiency 18
1590 c NNN032 Non-Infectious Posterior Uveitis 18
1591 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 18
1592 SWY003 Swyer-James Syndrome 18
1593 c SCH084 Schizophrenia 8 18
1594 QLT009 Qualitative or Quantitative Defects of Caveolin-3 18
1595 c ATS419 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 18
1596 DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 18
1597 CTM001 Catamenial Pneumothorax 18
1598 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 18
1599 P HRD043 Hereditary Congenital Facial Paresis 18
1600 c ATS461 Autosomal Dominant Cerebellar Ataxia Type I 18
1601 NNF008 Non-Functioning Paraganglioma 18
1602 c TRN062 Transient Neonatal Myasthenia Gravis 18
1603 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 18
1604 CNT088 Central Cloudy Dystrophy of Francois 18
1605 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 18
1606 GND015 Gonadal Germ Cell Tumor 18
1607 GLM036 Gliomatosis Peritonei 18
1608 PNH004 Panhypophysitis 18
1609 HMF007 Hemifacial Hyperplasia with Strabismus 18
1610 MYX011 Myxozoa 18
1611 c JVN060 Juvenile Idiopathic Inflammatory Myopathy 18
1612 MYS028 Myospherulosis 18
1613 P CNG070 Congenital Dislocation of the Patella 18
1614 1QD001 1q Duplications 18
1615 c SYS065 Systemic Lupus Erythematosus 11 18
1616 JCK003 Jackhammer Esophagus 18
1617 PSD079 Pseudoangiomatous Stromal Hyperplasia 18
1618 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 18
1619 c CLR141 Ciliary Dyskinesia, Primary, 41 18
1620 P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 18
1621 HRD044 Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke 18
1622 LMB056 Lumbosacral Spina Bifida Cystica 18
1623 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 18
1624 CHL084 Cholesterol Pneumonia 18
1625 P PCS003 Pacs1 Syndrome 18
1626 c CTR178 Cataract 27 18
1627 THM005 Thumb Deformity 18
1628 c CHR344 Chronic Orthostatic Intolerance 18
1629 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
1630 CCC003 Coccygodynia 18
1631 P DNS004 Duane Syndrome Type 2 18
1632 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 18
1633 MCR307 Microspherophakia-Metaphyseal Dysplasia 18
1634 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 18
1635 c CTR157 Cataract 28 18
1636 VLV046 Vulvovaginal Gingival Syndrome 18
1637 PRM157 Primary Progressive Freezing Gait 18
1638 c SPS034 Spastic Paraplegia 26 18
1639 CTN020 Cutaneous Sclerosis 18
1640 GLY074 Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset 18
1641 c JVN045 Juvenile Ossifying Fibroma 18
1642 RMT001 Remitting Seronegative Symmetrical Synovitis with Pitting Edema 18
1643 P ATS469 Autosomal Monosomy 18
1644 CTN034 Cutaneous Myiasis 18
1645 OTN001 Otoonychoperoneal Syndrome 18
1646 XLN215 X-Linked Congenital Generalized Hypertrichosis 18
1647 c PCS002 Pacs1-Related Syndrome 18
1648 DST059 Distal Trisomy 17q 18
1649 STN005 St Anthony's Fire 18
1650 MTH011 Methionine Adenosyltransferase Deficiency 18
1651 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
1652 TRP010 Treponema Infection 18
1653 P 17Q010 17q12 Deletion Syndrome 18
1654 HRR005 Harrod Syndrome 18
1655 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 17
1656 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
1657 c SYN040 Synpolydactyly 3 17
1658 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
1659 MCR317 Macrophthalmia, Colobomatous, with Microcornea 17
1660 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 17
1661 HMR013 Hemorrhagic Proctocolitis 17
1662 c DVL011 Developmental Dysplasia of the Hip 2 17
1663 ISL085 Isolated Agammaglobulinemia 17
1664 CHR612 Chromosome 15q14 Deletion Syndrome 17
1665 c INF055 Infectious Myocarditis 17
1666 MD1003 Med13l Haploinsufficiency Syndrome 17
1667 RDT004 Radiation Induced Brachial Plexopathy 17
1668 CLS032 Clostridium Perfringens Infection 17
1669 ORN004 Ornithinemia 17
1670 c LTY001 Late Yaws 17
1671 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 17
1672 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 17
1673 P NDL017 Nodular Cutaneous Amyloidosis 17
1674 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
1675 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 17
1676 CHR184 Chromosome 10q Duplication 17
1677 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 17
1678 c PRK084 Porokeratosis 6, Multiple Types 17
1679 PNT023 Pontine Hemorrhage 17
1680 WND005 Wound Myiasis 17
1681 RSM002 Rasmussen Johnsen Thomsen Syndrome 17
1682 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 17
1683 ILL003 Illum Syndrome 17
1684 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 17
1685 THR085 Thoracolumbosacral Spina Bifida Aperta 17
1686 c HYP573 Hypotrichosis 5 17
1687 P CNG600 Congenital Arteriovenous Fistula 17
1688 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1689 SPR072 Superficial Pemphigus 17
1690 ERY050 Erythema Palmare Hereditarium 17
1691 CLM004 Climatic Droplet Keratopathy 17
1692 MSC081 Mosaic Trisomy 15 17
1693 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 17
1694 TRC114 Trichodental Dysplasia 17
1695 17Q011 17q12 Duplication 17
1696 ACN013 Acanthocheilonemiasis 17
1697 P PYR006 Pyridoxine-Responsive Sideroblastic Anemia 17
1698 PPL053 Papillomatosis, Florid, of Nipple 17
1699 OBS199 Obsolete: Sakati-Nyhan Syndrome 17
1700 BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 17
1701 CHR257 Chromosome 6q Deletion 17
1702 CRV066 Cervical Aortic Arch 17
1703 c RNG014 Ring Chromosome 19 17
1704 KNS006 Kniest-Like Dysplasia, Lethal 17
1705 c FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 17
1706 c CTR128 Cataract 33 17
1707 ALN006 Alien Hand Syndrome 17
1708 c CRN298 Carney Complex, Type 2 17
1709 PRX013 Proximal Chromosome 18q Deletion Syndrome 17
1710 c PRM188 Primary Cutis Verticis Gyrata 17
1711 SPR065 Supernumerary Nostril 17
1712 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 17
1713 c RNG011 Ring Chromosome 16 17
1714 c UNP011 Uniparental Disomy of Chromosome 14 17
1715 c BNG001 Benign Peritoneal Mesothelioma 17
1716 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
1717 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 17
1718 CRN287 Carnitine Deficiency, Myopathic 17
1719 MSM018 Mesomelic Limb Shortening and Bowing 17
1720 SLT007 Solitary Rectal Ulcer Syndrome 17
1721 RDR002 Rodrigues Blindness 17
1722 CMM018 Common Mesentery 17
1723 SYR004 Syringobulbia 17
1724 P PSD036 Pseudoinflammatory Fundus Dystrophy 17
1725 c SPN107 Spinocerebellar Ataxia 9 17
1726 ANL019 Anal Sphincter Dysplasia 17
1727 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 16
1728 APD001 Apo a-I Deficiency 16
1729 CLF034 Cleft Hard Palate 16
1730 c WRD026 Waardenburg Syndrome, Type 2c 16
1731 ATY045 Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality 16
1732 CLD006 Cleidorhizomelic Syndrome 16
1733 EMR002 Emerinopathy 16
1734 DBL010 Double-Orifice Mitral Valve 16
1735 HYP171 Hyperphenylalaninemia Due to Dehydratase Deficiency 16
1736 c SYS055 Systemic Lupus Erythematosus 12 16
1737 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 16
1738 RGH003 Right Ventricle Hypoplasia 16
1739 THM025 Thumbs, Congenital Clasped 16
1740 c CLR069 Ciliary Dyskinesia, Primary, 8 16
1741 ADN078 Adnp Syndrome 16
1742 CRN224 Craniofaciofrontodigital Syndrome 16
1743 MSM003 Mesomelia 16
1744 OBS172 Obsolete: Solitary Median Maxillary Central Incisor Syndrome 16
1745 c CNG370 Congenital Tracheal Stenosis 16
1746 c RTN181 Retinitis Pigmentosa 2, X-Linked 16
1747 LTH004 Lathyrism 16
1748 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 16
1749 SPN113 Spinocerebellar Ataxia with Dysmorphism 16
1750 c HRN019 Hair-an Syndrome 16
1751 c ACQ039 Acquired Purpura Fulminans 16
1752 KSH003 Kshv Inflammatory Cytokine Syndrome 16
1753 CNG243 Congenital Subglottic Stenosis 16
1754 PRP068 Propriospinal Myoclonus 16
1755 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 16
1756 ACR026 Acrocephalopolydactyly 16
1757 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
1758 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 16
1759 c SYS048 Systemic Lupus Erythematosus 8 16
1760 MCR374 Microencephaly 16
1761 TRS011 Trisomy 2 Mosaicism 16
1762 CHR220 Chromosome 1p Deletion 16
1763 c CLR067 Ciliary Dyskinesia, Primary, 4 16
1764 16P003 16p13.11 Microdeletion Syndrome 16
1765 LJN002 Lujan Syndrome 16
1766 CHS007 Chester Porphyria 16
1767 GLC088 Glaucoma and Sleep Apnea 16
1768 BSC003 Buschke Lowenstein Tumor 16
1769 CHR271 Chromosome 9q Deletion 16
1770 ZBR001 Zebra Body Myopathy 16
1771 TRS010 Trisomy 17 Mosaicism 16
1772 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 16
1773 c SYS052 Systemic Lupus Erythematosus 13 16
1774 CNG529 Congenital Femoral Deficiency 16
1775 CHR250 Chromosome 4q Duplication 16
1776 SPR145 Superficial Fibromatosis 16
1777 SGR001 Sugarman Brachydactyly 16
1778 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 16
1779 c ALP036 Alopecia, Androgenetic, 2 16
1780 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 16
1781 MSC086 Mesocardia 16
1782 OVR073 Ovarian Remnant Syndrome 16
1783 c GLC052 Glaucoma 3, Primary Congenital, C 16
1784 EPL163 Epilepsy with Bilateral Occipital Calcifications 16
1785 c MYC085 Myoclonic Epilepsy, Juvenile 3 16
1786 GRN021 Granulomatous Rosacea 16
1787 c KLL008 Kallmann Syndrome 6 16
1788 LNG102 Long-Thumb Brachydactyly Syndrome 16
1789 DYS053 Dystelephalangy 16
1790 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1791 c CRN068 Corneal Endothelial Dystrophy Type 2 16
1792 c PNM004 Pneumoconiosis Due to Talc 16
1793 SYN149 Syndromic Rod-Cone Dystrophy 16
1794 c HYP551 Hypotrichosis 9 16
1795 RDC003 Red Cell Phospholipid Defect with Hemolysis 16
1796 P PRM210 Primary Lipodystrophy 16
1797 ERL040 Early-Onset Sutural Cataract 16
1798 c RFR015 Refractory Anemia with Excess Blasts Type 1 16
1799 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 16
1800 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 16
1801 CHR188 Chromosome 11q Duplication 16
1802 RCT024 Reactive Angioendotheliomatosis 16
1803 c MYC086 Myoclonic Epilepsy, Juvenile 4 16
1804 NSD003 Nasodigitoacoustic Syndrome 16
1805 16P008 16p11.2 Duplication 16
1806 PHN012 Phenytoin or Carbamazepine Toxicity 16
1807 BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 16
1808 LCT008 Lactate Dehydrogenase Deficiency 16
1809 PPL027 Papular Urticaria 16
1810 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16
1811 CHR199 Chromosome 15q Duplication 16
1812 PNH003 Pinheiro Freire-Maia Miranda Syndrome 16
1813 SYM006 Symmetrical Thalamic Calcifications 16
1814 c FBR077 Fibromatosis, Gingival, 3 15
1815 c FBR080 Fibromatosis, Gingival, 4 15
1816 CHR238 Chromosome 2p Duplication 15
1817 BRC096 Brachydactyly-Distal Symphalangism Syndrome 15
1818 RDT014 Radiation Myelitis 15
1819 ACT174 Acute Peripheral Arterial Occlusion 15
1820 PRP069 Purpura Simplex 15
1821 SNK001 Snakebite Envenomation 15
1822 OBS249 Obsolete: Papillary Fibroelastoma of the Heart 15
1823 SPN353 Spondylometaphyseal Dysplasia, X-Linked 15
1824 CHR181 Chromosome 10p Deletion 15
1825 PRP033 Properdin Deficiency 15
1826 SBP005 Subpulmonary Stenosis 15
1827 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 15
1828 EXR004 Exertional Headache 15
1829 CHR264 Chromosome 8p Deletion 15
1830 c UNP008 Uniparental Disomy of Chromosome 15 15
1831 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 15
1832 ETN003 Eating Reflex Epilepsy 15
1833 c PRT113 Parietal Foramina 3 15
1834 XP2001 Xp22.3 Microdeletion Syndrome 15
1835 CRT056 Carotidynia 15
1836 OBS413 Obsolete: Brachydactyly of Fingers 15
1837 ART027 Aorta-Pulmonary Artery Fistula 15
1838 DBL009 Double Inferior Vena Cava 15
1839 CNG067 Congenital Cystic Eye 15
1840 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 15
1841 DBS003 Dibasic Amino Aciduria I 15
1842 c OBS417 Obsolete: Brachydactyly of Toes 15
1843 GRN020 Granulomatous Hypophysitis 15
1844 DSM005 Desmoplastic Infantile Astrocytoma 15
1845 IDP047 Idiopathic Panuveitis 15
1846 NSP010 Nasopharyngeal Teratoma 15
1847 LRS009 Larsen-Like Syndrome, Lethal Type 15
1848 CNG248 Congenital Smooth Muscle Hamartoma 15
1849 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 15
1850 c SPN122 Spondylocostal Dysostosis 2 15
1851 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 15
1852 c MYG006 Myoglobinuria, Autosomal Dominant 15
1853 ECT086 Ectrodactyly-Polydactyly 15
1854 TYP044 Type 1 Interferonopathy 15
1855 SCR022 Sacral Meningocele Conotruncal Heart Defects 15
1856 ESP040 Esophageal Duplication Cyst 15
1857 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 15
1858 CTT001 Catatrichy 15
1859 CHR272 Chromosome 9q Duplication 15
1860 MYL019 Myeloid Splenomegaly 15
1861 ONY005 Onychomatricoma 15
1862 GMB001 Gombo Syndrome 15
1863 CHR263 Chromosome 7q Duplication 15
1864 SGM006 Segmental Odontomaxillary Dysplasia 15
1865 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 15
1866 ANP028 Anaplastic/large Cell Medulloblastoma 15
1867 MRG007 Morgellons 15
1868 GLM046 Glomus Vagale Tumor 15
1869 PLM062 Pulmonary Hyalinizing Granuloma 15
1870 CHR261 Chromosome 7p Duplication 15
1871 PRT237 Partial Deletion of the Long Arm of Chromosome 16 15
1872 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 15
1873 PRG036 Progressive Transformation of Germinal Centers 15
1874 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 15
1875 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
1876 CSK001 Cask-Related Disorders 15
1877 PST037 Pasteurella Multocida Infection 15
1878 c SPS032 Spastic Paraplegia 24 15
1879 CRN083 Craniofacial Dyssynostosis 15
1880 P LTH050 Lethal Chondrodysplasia 15
1881 PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 15
1882 c CTR176 Cataract, Age-Related Nuclear 15
1883 ACH040 Achoo Syndrome 15
1884 c SYS047 Systemic Lupus Erythematosus 7 15
1885 ERL037 Early-Onset Lamellar Cataract 15
1886 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 15
1887 ACR022 Acardia 15
1888 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
1889 c HTR012 Heterotaxy, Visceral, 3, Autosomal 15
1890 CMP052 Complication in Hemodialysis 15
1891 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 15
1892 LMB071 Lambotte Syndrome 15
1893 SSR001 Ssr4-Cdg 15
1894 CHR194 Chromosome 13q Duplication 15
1895 ADC008 Adactylia, Unilateral 15
1896 TBR012 Tuberculous Uveitis 15
1897 CMP079 Complete Septate Uterus 15
1898 CHR240 Chromosome 2q Duplication 15
1899 CRB203 Caribbean Parkinsonism 15
1900 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 15
1901 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 15
1902 CLF036 Cleft Tongue 15
1903 DGT004 Digitalis Poisoning 15
1904 OMP007 Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex 15
1905 PNS014 Penis Agenesis 15
1906 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
1907 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
1908 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 15
1909 P NNN030 Non-Infectious Anterior Uveitis 15
1910 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1911 c HYP544 Hypotrichosis 10 15
1912 DRT002 Duarte Variant Galactosemia 15
1913 THR122 Thoracic Malformation 15
1914 CHR214 Chromosome 18q Duplication 14
1915 c SYR009 Syringomas, Multiple 14
1916 ISL072 Isolated Levocardia 14
1917 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
1918 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 14
1919 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1920 BSL013 Basaloid Follicular Hamartoma 14
1921 APL029 Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 14
1922 KLN003 Kaolin Pneumoconiosis 14
1923 ANT076 Anthracycline Extravasation 14
1924 TRP027 Triphalangeal Thumb, Nonopposable 14
1925 HRD038 Harding Ataxia 14
1926 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 14
1927 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 14
1928 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 14
1929 CHR196 Chromosome 14q Duplication 14
1930 CHR219 Chromosome 19q13.11 Deletion Syndrome 14
1931 ORB018 Orbital Leiomyoma 14
1932 c MTR061 Maternal Uniparental Disomy of Chromosome 6 14
1933 CHR249 Chromosome 4q Deletion 14
1934 WYR003 Weyers Ulnar Ray/oligodactyly Syndrome 14
1935 c ISC010 Isochromosome Yp 14
1936 AST010 Astley-Kendall Syndrome 14
1937 LTN011 Late-Onset Isolated Acth Deficiency 14
1938 TLN004 Talonavicular Coalition 14
1939 PRS111 Persistent Fifth Aortic Arch 14
1940 CHR207 Chromosome 16q Duplication 14
1941 WHS002 Whistling Face Syndrome, Recessive Form 14
1942 TRC064 Trochlear Dysplasia 14
1943 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 14
1944 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 14
1945 c EPL186 Epilepsy, Juvenile Myoclonic 9 14
1946 c GLT029 Glutaric Acidemia Type Iii 14
1947 CRV046 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 14
1948 TRC061 Trichostasis Spinulosa 14
1949 WLN002 Welander Distal Myopathy, Swedish Type 14
1950 CHR256 Chromosome 6p Duplication 14
1951 c INF151 Infectious Panuveitis 14
1952 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
1953 GSB001 Gas Bloat Syndrome 14
1954 FRY004 Fryns Hofkens Fabry Syndrome 14
1955 17Q012 17q24.2 Microdeletion Syndrome 14
1956 ACT170 Acute Ackee Fruit Intoxication 14
1957 PRS132 Parasomnia, Sleep Bruxism Type 14
1958 CHR197 Chromosome 15, Trisomy Mosaicism 14
1959 ANN013 Annular Atrophic Lichen Planus 14
1960 EXG001 Exogenous Ochronosis 14
1961 GST058 Gestational Diabetes Insipidus 14
1962 ISD002 Isodicentric Chromosome 15 Syndrome 14
1963 ARC024 Aurocephalosyndactyly 14
1964 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
1965 ETH013 Euthyroid Graves Orbitopathy 14
1966 CLS034 Clostridium Septicum Infection 14
1967 CHR244 Chromosome 3p Duplication 14
1968 P BMN001 Biemond Syndrome 14
1969 PHC007 Pheochromocytoma, Childhood 14
1970 PRV008 Parvovirus Antenatal Infection 14
1971 c MCH014 Machado-Joseph Disease Type 2 14
1972 c ESP034 Esophagitis, Eosinophilic, 2 14
1973 c ATS460 Autosomal Recessive Congenital Cerebellar Ataxia 14
1974 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
1975 CHR198 Chromosome 15q Deletion 14
1976 SHR117 Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms 14
1977 c UNP007 Uniparental Disomy of Chromosome 6 14
1978 NNH006 Non-Herpetic Acute Limbic Encephalitis 14
1979 c CNG100 Congenital Herpes Simplex 14
1980 CHR254 Chromosome 5q Duplication 14
1981 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 14
1982 CMB094 Combined Dystonia 14
1983 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 14
1984 FRT004 Fourth Branchial Cleft Anomaly 14
1985 LFT005 Left-Sided Gallbladder 14
1986 LKN028 Leukoencephalopathy with Calcifications and Cysts 14
1987 ITC001 Itch E3 Ubiquitin Ligase Deficiency 14
1988 c PSD024 Pseudo Pelger-Huet Anomaly 14
1989 STR070 Startle Epilepsy 14
1990 FMR007 Femur Bifid with Monodactylous Ectrodactyly 14
1991 ORB016 Orbital Varix 14
1992 LGH014 Light and Heavy Chain Deposition Disease 14
1993 PRM138 Pure Mitochondrial Myopathy 14
1994 CHR468 Chronic Pneumonitis of Infancy 14
1995 OBS412 Obsolete: Preaxial Polydactyly of Toes 14
1996 CHR183 Chromosome 10q Deletion 14
1997 RCT033 Rectal Duplication 14
1998 c ANR028 Aneurysm, Intracranial Berry, 3 14
1999 49X005 49, Xxxyy Syndrome 14
2000 ONY004 Onychocytic Matricoma 14
2001 WLF008 Wolffian Tumor 14
2002 PRM238 Primary Intralymphatic Angioendothelioma 14
2003 c SPS029 Spastic Paraplegia 19 14
2004 FRN042 Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome 14
2005 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 14
2006 ENC045 Encephalopathy, Recurrent, of Childhood 14
2007 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 14
2008 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 14
2009 VCT002 Vacterl Association with Hydrocephaly, X-Linked 14
2010 DST069 Distal Monosomy 12q 14
2011 ICH018 Ichthyosis Linearis Circumflexa 14
2012 CHR556 Chromosome 3q Duplication 14
2013 c RST013 Restless Legs Syndrome 2 13
2014 DRM036 Dermochondrocorneal Dystrophy of François 13
2015 CHR274 Chromosome Xq Duplication 13
2016 c SYS045 Systemic Lupus Erythematosus 14 13
2017 DYT003 Dyt-Gnal 13
2018 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 13
2019 IRS009 Iris Hypoplasia with Glaucoma 13
2020 FTZ005 Fitzsimmons-Guilbert Syndrome 13
2021 MCR073 Microgastria Limb Reduction Defect 13
2022 c ANR011 Aneurysm, Intracranial Berry, 2 13
2023 HND012 Handigodu Joint Disease 13
2024 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13
2025 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
2026 CHR192 Chromosome 12q Duplication 13
2027 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 13
2028 FCL087 Facial Infiltrating Lipomatosis 13
2029 ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 13
2030 c KLL007 Kallmann Syndrome 5 13
2031 SCN061 Scn8a Encephalopathy 13
2032 HNR001 Heiner Syndrome 13
2033 c RST014 Restless Legs Syndrome 3 13
2034 CMP062 Complication After Organ Transplantation 13
2035 c PTR011 Paternal Uniparental Disomy of Chromosome 1 13
2036 ACR040 Acromelanosis 13
2037 CHR223 Chromosome 1q Deletion 13
2038 MXL011 Maxillofacial Dysostosis 13
2039 CHR614 Chromosome 16p13.2 Deletion Syndrome 13
2040 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13
2041 SBP003 Subependymal Nodular Heterotopia 13
2042 6Q1002 6q16 Microdeletion Syndrome 13
2043 ABS016 Absence of the Pulmonary Artery 13
2044 MSC079 Mosaic Trisomy 1 13
2045 SKD001 Sakoda Complex 13
2046 MLT168 Multicore Disease 13
2047 ATL006 Atlanto-Axial Fusion 13
2048 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
2049 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 13
2050 P HRD194 Hereditary Geniospasm 13
2051 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 13
2052 RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 13
2053 CRY037 Cryptophthalmia 13
2054 BNG042 Benign Multicystic Peritoneal Mesothelioma 13
2055 OBS524 Obsolete: Benign Exophthalmos Syndrome 13
2056 c FCL065 Facial Palsy, Familial Recurrent Peripheral 13
2057 PRT178 Partial Deletion of the Long Arm of Chromosome 5 13
2058 INV015 Invasive Non-Typhoidal Salmonellosis 13
2059 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
2060 PHC005 Phacomatosis Pigmentokeratotica 13
2061 VRB002 Variably Protease-Sensitive Prionopathy 13
2062 RDL031 Radial Aplasia, X-Linked 13
2063 ASP009 Aspergillus Niger Infection 13
2064 CHR189 Chromosome 12p Deletion 13
2065 CHR275 Chromosome Xq28 Deletion Syndrome 13
2066 HND010 Handigodu Disease 13
2067 EXT060 Extragonadal Teratoma 13
2068 PRS125 Pura Syndrome 13
2069 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
2070 c ANR029 Aneurysm, Intracranial Berry, 6 13
2071 SPS006 Spastic Monoplegia 13
2072 c SPS035 Spastic Paraplegia 29 13
2073 TRT022 True Thymic Hyperplasia 13
2074 CRN310 Cranial Malformation 13
2075 OBS536 Obsolete: Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 13
2076 CNG241 Congenital Laryngeal Palsy 13
2077 c SPN403 Spinocerebellar Ataxia, X-Linked 2 13
2078 EXS022 Exostosis, Dupuytren Subungual 13
2079 c ACR046 Acropectorovertebral Dysplasia F Form 13
2080 ANT038 Anti-Plasmin Deficiency, Congenital 13
2081 GSR001 Gosr2-Related Progressive Myoclonus Ataxia 13
2082 c INT094 Intermediate Severe Salla Disease 13
2083 c UNP003 Uniparental Disomy of Chromosome 11 13
2084 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 13
2085 P CHR555 Chromosome 3p- Syndrome 13
2086 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
2087 MRV001 Morvan's Fibrillary Chorea 13
2088 PRM153 Primary Progressive Apraxia of Speech 13
2089 CNG519 Congenital Gerbode Defect 13
2090 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
2091 20P001 20p12.3 Microdeletion Syndrome 13
2092 c RNG031 Ring Chromosome Y Syndrome 13
2093 MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 13
2094 c SYS067 Systemic Lupus Erythematosus 15 13
2095 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 13
2096 c RST015 Restless Legs Syndrome 4 13
2097 PLG007 Pili Gemini 13
2098 KNS003 Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 13
2099 GRN042 Granulomatous Lobular Mastitis 13
2100 MYS071 Myasthenia, Limb-Girdle, Autoimmune 13
2101 c BLT007 Bilateral Frontal Polymicrogyria 13
2102 GLT037 Gluteal Muscles, Absence of 13
2103 c ANR024 Aneurysm, Intracranial Berry, 9 13
2104 c SPS161 Spastic Paraplegia 32 13
2105 c SCN053 Secondary Glomerular Disease 13
2106 CHR258 Chromosome 6q Duplication 13
2107 TMR022 Tumor of Meninges 13
2108 SCN063 Scn2a Related Disorders 13
2109 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
2110 OBS116 Obsolete: Duplication 4q 13
2111 CNG587 Congenital Limb Malformation 13
2112 INT102 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity 13
2113 BWH001 Bow Hunter's Stroke 13
2114 NCT004 N Acetyltransferase Deficiency 13
2115 PSD044 Pseudopolycythaemia 13
2116 CNG235 Congenital Microgastria 13
2117 CHR175 Chromhidrosis 13
2118 8P1001 8p11.2 Deletion Syndrome 13
2119 KMT002 Kmt2b-Related Dystonia 13
2120 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 13
2121 MTS004 Metastatic Insulinoma 13
2122 TGV001 Togaviridae Disease 13
2123 DST038 Distal Monosomy 7q36 13
2124 PRR018 Preauricular Sinus 13
2125 c SCN066 Secondary Erythromelalgia 13
2126 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 13
2127 IRF001 Irf6-Related Disorders 13
2128 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 13
2129 c ANR022 Aneurysm, Intracranial Berry, 4 13
2130 c SPS033 Spastic Paraplegia 25 13
2131 LTR017 Lateral Facial Cleft 13
2132 c SPR097 Sporadic Hyperekplexia 13
2133 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 13
2134 11Q001 11q22.2q22.3 Microdeletion Syndrome 12
2135 IDP062 Idiopathic Syringomyelia 12
2136 SPN414 Spondylometaphyseal Dysplasia, East African Type 12
2137 FBR026 Fibromatosis Multiple Non Ossifying 12
2138 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 12
2139 PLB003 Pili Bifurcati 12
2140 49X004 49,xyyyy Syndrome 12
2141 PCR003 Pauciarticular Onset Juvenile Idiopathic Arthritis 12
2142 CHR239 Chromosome 2q Deletion 12
2143 IDP023 Idiopathic Subglottic Tracheal Stenosis 12
2144 PRM233 Primary Cutaneous Plasmacytosis 12
2145 MNN041 Mannose-Binding Lectin Protein Deficiency 12
2146 c SPS080 Spastic Paraplegia 51 12
2147 SPR028 Spirochetes Disease 12
2148 TRN045 True Unicornuate Uterus 12
2149 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 12
2150 PLM053 Pulmonary Artery Agenesis 12
2151 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 12
2152 c SPS024 Spastic Paraplegia 14 12
2153 UNC008 Unclassified Myelodysplastic Syndrome 12
2154 MSN011 Mesangioproliferative Glomerulopathy 12
2155 CD4004 Cd4 Deficiency 12
2156 XP2002 Xp22.13p22.2 Duplication Syndrome 12
2157 CHR206 Chromosome 16q Deletion 12
2158 CMP031 Complement Component Deficiency 12
2159 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
2160 NNP018 Non-Paraneoplastic Limbic Encephalitis 12
2161 ANN009 Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 12
2162 c ANR026 Aneurysm, Intracranial Berry, 5 12
2163 c RST021 Restless Legs Syndrome 5 12
2164 c ANR023 Aneurysm, Intracranial Berry, 7 12
2165 c ANR030 Aneurysm, Intracranial Berry, 8 12
2166 GLM017 Glomus Tympanicum Tumor 12
2167 MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 12
2168 PLY127 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome 12
2169 CHR195 Chromosome 14q Deletion 12
2170 CYS035 Cystic Adventitial Disease 12
2171 CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 12
2172 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 12
2173 P PRM298 Primary Peritoneal Tumor 12
2174 c INF119 Infantile Mercury Poisoning 12
2175 c KLZ002 Kala-Azar 2 12
2176 CNG238 Congenital Panfollicular Nevus 12
2177 CNG335 Congenital Ectropion Uveae 12
2178 c CNG343 Congenital Coronary Artery Aneurysm 12
2179 CHR458 Chromosome 9 Inversion 12
2180 LCT018 Lactobezoar 12
2181 ANT064 Antidepressant or Antipsychotic Toxicity or Dose Selection 12
2182 CHR233 Chromosome 21q Deletion 12
2183 c PPL045 Papular Mucinosis of Infancy 12
2184 THR034 Thoracopelvic Dysostosis 12
2185 ZLT002 Zlotogora Syndrome 12
2186 IDP043 Idiopathic Uveal Effusion Syndrome 12
2187 c ZKV002 Zika Virus Congenital Syndrome 12
2188 TCR004 Tacrolimus Dose Selection 12
2189 c 17Q009 17q12 Recurrent Deletion Syndrome 12
2190 P HRT041 Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome 12
2191 RFR006 Refractory Cytopenia with Unilineage Dysplasia 12
2192 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
2193 OBS385 Obsolete: Postaxial Polydactyly of Fingers 12
2194 JMC001 Jamaican Vomiting Sickness 12
2195 LPM011 Lip, Median Nodule of Upper 12
2196 c ANR025 Aneurysm, Intracranial Berry, 10 12
2197 CHR210 Chromosome 17q Duplication 12
2198 c DNT048 Dentinogenesis Imperfecta Type 3 12
2199 WLM003 Wilms Tumor and Radial Bilateral Aplasia 12
2200 ISL131 Isolated Foveal Hypoplasia 12
2201 c CNG342 Congenital Central Diabetes Insipidus 12
2202 P LRY049 Laryngotracheoesophageal Cleft Type 4 12
2203 c INF052 Infantile Scoliosis 12
2204 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 12
2205 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 12
2206 CHR185 Chromosome 11p Deletion 12
2207 CYS023 Cystic Medial Necrosis of Aorta 12
2208 MDL007 Medial Medullary Syndrome 12
2209 SXC004 Sex Chromosome Disorder of Sex Development 12
2210 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 12
2211 LPC003 Lipoic Acid Synthetase Deficiency 12
2212 c CLD018 Cleidocranial Dysplasia, Recessive Form 12
2213 c SPS165 Spastic Paraplegia 47 12
2214 MYL077 Myeloid Hemopathy 12
2215 P ISL045 Isolated Focal Cortical Dysplasia Type I 12
2216 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
2217 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 12
2218 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
2219 c DYS194 Dysautonomia-Like Disorder 12
2220 SYN124 Syndromic Inherited Retinal Disorder 12
2221 c SPN123 Spondylocostal Dysostosis 3 12
2222 CHR203 Chromosome 16p Duplication 12
2223 SLN002 Selenium Poisoning 12
2224 DYS181 Dyssegmental Dysplasia with Glaucoma 12
2225 TRP023 Triphalangeal Thumbs and Dislocation of Patella 12
2226 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 12
2227 CHR255 Chromosome 6p Deletion 12
2228 c KLL005 Kallmann Syndrome 3 12
2229 ACR113 Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma 12
2230 FGS003 Fg Syndrome 3 12
2231 CRD015 Cardiac Hydatid Cysts with Intracavitary Expansion 12
2232 TRP011 Triopia 12
2233 NND003 Non-Distal Trisomy 10q 12
2234 ALC030 Alect2 Amyloidosis 12
2235 STT044 Statin Toxicity 12
2236 VRL018 Virilizing Ovarian Tumor 12
2237 CHR217 Chromosome 19q Deletion 12
2238 CNG120 Congenital Pseudoarthrosis 12
2239 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 12
2240 TBC002 Tbc1d24-Related Disorders 12
2241 c CHR689 Chronic Polyradiculoneuropathy 12
2242 THR083 Third Branchial Cleft Anomaly 12
2243 XLN101 X-Linked Complex Spastic Paraplegia 12
2244 CHR235 Chromosome 22q Deletion 12
2245 c ACQ036 Acquired Angioedema Type 2 12
2246 c PSD023 Pseudo-Gaucher Disease 12
2247 PST109 Postinfectious Encephalitis 11
2248 c ANR039 Aneurysm, Intracranial Berry, 11 11
2249 CLF040 Cleft Lip-Retinopathy Syndrome 11
2250 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 11
2251 ACR080 Acral Persistent Papular Mucinosis 11
2252 CHR230 Chromosome 20q Deletion 11
2253 RHB007 Rhabdomyomatous Mesenchymal Hamartoma 11
2254 CNG357 Congenital Symblepharon 11
2255 c CHN027 Chondrodysplasia Lethal Recessive 11
2256 ATM088 Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea 11
2257 CMP085 Camptomelic Syndrome, Long-Limb Type 11
2258 CNG053 Congenital Amputation 11
2259 LMY012 Leiomyosarcoma of the Cervix Uteri 11
2260 VTM021 Vitamin K Antagonists Toxicity or Dose Selection 11
2261 CHR218 Chromosome 19q Duplication 11
2262 DRM038 Dermotrichic Syndrome 11
2263 10Q002 10q22.3q23.3 Microduplication Syndrome 11
2264 DPD002 Depdc5-Related Epilepsy 11
2265 P ICH074 Ichthyosis, Lamellar, Autosomal Dominant 11
2266 GN1001 Gnao1 Encephalopathy 11
2267 c SCN042 Secondary Hypereosinophilic Syndrome 11
2268 P CNG595 Congenital Alacrima 11
2269 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 11
2270 ANR041 Aniridia-Intellectual Disability Syndrome 11
2271 CHR221 Chromosome 1p Duplication 11
2272 c CHR143 Charcot-Marie-Tooth Disease Type 2g 11
2273 INF134 Infective Myositis 11
2274 THS001 Thai Symphalangism Syndrome 11
2275 FRM006 Formaldehyde Poisoning 11
2276 CRB080 Cor Biloculare 11
2277 c ZYG007 Zygodactyly Type 3 11
2278 DPL010 Duplication of the Esophagus 11
2279 MDP001 Midphalangeal Hair 11
2280 NYS007 Nystagmus, Hereditary Vertical 11
2281 MTP010 Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly 11
2282 ISL033 Isolated Delta-Storage Pool Disease 11
2283 SYN109 Syndrome with a Dandy-Walker Malformation As Major Feature 11
2284 CDN003 Codeine Toxicity 11
2285 CHR459 Chromosome Xp Deletion 11
2286 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
2287 MLL015 Mills Syndrome 11
2288 CHR231 Chromosome 20q Duplication 11
2289 c USH011 Usher Syndrome, Type 2b 11
2290 c UNP004 Uniparental Disomy of Chromosome 2 11
2291 BLR012 Biliary Hypoplasia 11
2292 CLR130 Ciliary Dyskinesia with Defective Radial Spokes 11
2293 c ALP037 Alopecia, Androgenetic, 3 11
2294 RWL001 Rowley-Rosenberg Syndrome 11
2295 c TRS033 Trisomy 18-Like Syndrome 11
2296 c SPS026 Spastic Paraplegia 16 11
2297 PRT186 Partial Duplication of the Long Arm of Chromosome X 11
2298 CRC033 Circumscribed Palmoplantar Hypokeratosis 11
2299 AST008 Asternia 11
2300 TRC088 Trochleitis 11
2301 STR108 Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome 11
2302 ACQ011 Acquired Agranulocytosis 11
2303 ANG033 Angiomyomatous Hamartoma 11
2304 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 11
2305 MTT008 Mt-Atp6-Related Mitochondrial Spastic Paraplegia 11
2306 HYP145 Hyperbetaalaninemia 11
2307 RHZ007 Rhizomelic Pseudopolyarthritis 11
2308 SRP007 Serpinopathy 11
2309 CHR213 Chromosome 18p Tetrasomy 11
2310 c ICH016 Ichthyosis Lamellar 3 11
2311 DST055 Distal 22q11.2 Microduplication Syndrome 11
2312 c IDP048 Idiopathic Posterior Uveitis 11
2313 LMY006 Leiomyoma of Vulva and Esophagus 11
2314 INF115 Infectious Epithelial Keratitis 11
2315 OBS634 Obsolete: Autosomal Dominant Focal Dystonia, Dyt7 Type 11
2316 KST002 Kuster Syndrome 11
2317 IDP036 Idiopathic Bilateral Vestibulopathy 11
2318 c CNG455 Congenital Aortopulmonary Window 11
2319 CND035 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen 11
2320 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 11
2321 ALL025 Allopurinol Toxicity 11
2322 CHR228 Chromosome 20p Deletion 11
2323 c CTR025 Cataract, Total Congenital 11
2324 ERY018 Erythema Nodosum, Idiopathic 11
2325 NBD001 Nbia/dyt/park-Pla2g6 11
2326 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 11
2327 c CHR161 Chiari Malformation Type 3 11
2328 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 11
2329 c EPL009 Epilepsy Progressive Myoclonic Type 3 11
2330 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 11
2331 EPS046 Epstein-Barr Virus-Related Tumor 11
2332 TXC021 Toxicity or Absent Response to Clozapine 11
2333 SPL021 Split Hand Split Foot Nystagmus 11
2334 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 11
2335 NLL003 Null Pituitary Adenoma 11
2336 DTR002 Dieterich's Disease 11
2337 ACT168 Acute Annular Outer Retinopathy 11
2338 c AMY014 Amyloidosis Nodular Localized Cutaneous 11
2339 ALP098 Alpha-2-Deficient Collagen Disease 11
2340 DST052 Distal 7q11.23 Microduplication Syndrome 11
2341 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 11
2342 c ADL071 Adult Krabbe Disease 11
2343 SYM005 Symmastia 11
2344 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 11
2345 c ACR115 Acrorenal Syndrome, Autosomal Recessive 11
2346 DBL015 Double Outlet Right Atrium 11
2347 CHR267 Chromosome 8q Deletion 11
2348 RDS004 Rud Syndrome 11
2349 MCR186 Microtriplication 11q24.1 10
2350 c RRD018 Rare Disease with Pierre Robin Syndrome 10
2351 GNT118 Genetic Syndrome with a Dandy-Walker Malformation As Major Feature 10
2352 ERL036 Early-Onset Posterior Subcapsular Cataract 10
2353 TFT002 Tufted Hair Folliculitis 10
2354 DYS128 Dysplasia of Head of Femur, Meyer Type 10
2355 c CNG257 Congenital Pulmonary Sequestration 10
2356 P ATY049 Atypical Hemolytic Uremic Syndrome with C3 Anomaly 10
2357 OBS557 Obsolete: Secondary Ciliary Dyskinesia 10
2358 DCK001 Dock2 Deficiency 10
2359 PRT165 Partial Deletion of the Short Arm of Chromosome 7 10
2360 ATS453 Autosomal Anomaly 10
2361 SBC040 Subcutaneous Tissue Disease 10
2362 PRL020 Paralysis Agitans, Juvenile, of Hunt 10
2363 c GLC032 Glaucoma, Hereditary 10
2364 ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 10
2365 CNG131 Congenital Unilateral Pulmonary Hypoplasia 10
2366 ATY027 Atypical Lichen Myxedematosus 10
2367 RDT003 Radiation Induced Angiosarcoma of the Breast 10
2368 P OBS551 Obsolete: Ehlers-Danlos Syndrome Type 1 10
2369 MSC088 Mosaic Trisomy 5 10
2370 OBS410 Obsolete: Central Polydactyly of Toes 10
2371 TRR003 Terrien Marginal Degeneration 10
2372 CTR005 Cataract and Congenital Ichthyosis 10
2373 ONY002 Onychotrichodysplasia and Neutropenia 10
2374 TRC060 Trichoscyphodysplasia 10
2375 CHR186 Chromosome 11p Duplication 10
2376 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
2377 ATT023 Attenuated Chediak-Higashi Syndrome 10
2378 IGG010 Igg4-Related Aortitis 10
2379 c SPN121 Spondylocostal Dysostosis 1 10
2380 LRY034 Laryngotracheal Angioma 10
2381 PRT111 Partial Septate Uterus 10
2382 BST005 Bustos Simosa Pinto Cisternas Syndrome 10
2383 XNT007 Xanthogranulomatous Sialadenitis 10
2384 PRT144 Partial Deletion of Chromosome 2 10
2385 c SCN047 Secondary Pulmonary Hemosiderosis 10
2386 DYR001 Dyrk1a-Related Intellectual Disability Syndrome 10
2387 NND005 Non-Distal Trisomy 13q 10
2388 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
2389 CHN047 Chondroectodermal Dysplasia with Night Blindness 10
2390 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 10
2391 CLR026 Ciliary Dyskinesia with Excessively Long Cilia 10
2392 ISL112 Isolated Congenital Hepatic Fibrosis 10
2393 MCR299 Microlissencephaly-Micromelia Syndrome 10
2394 ECT024 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 10
2395 NTR048 Neutropenia, Lethal Congenital, with Eosinophilia 10
2396 c KLZ003 Kala-Azar 3 10
2397 AHM001 Ahumada Del Castillo Syndrome 10
2398 BRC024 Brachydactyly Elbow Wrist Dysplasia 10
2399 c CHR232 Chromosome 21, Uniparental Disomy 10
2400 WND003 Windblown Hand 10
2401 ACT227 Acute Respiratory Coronavirus Infection 10
2402 4P1001 4p16.3 Microduplication Syndrome 10
2403 PDT046 Pediatric-Onset Graves Disease 10
2404 CHT001 Chaotic Atrial Tachycardia 10
2405 TPT004 Tapetoretinal Degeneration with Ataxia 10
2406 BRN050 Branchial Arch Defects 10
2407 CLR128 Ciliary Discoordination Due to Random Ciliary Orientation 10
2408 CHR260 Chromosome 7p Deletion 10
2409 TLN013 Telangiectasia Macularis Eruptive Perstans 10
2410 NND004 Non-Distal Monosomy 10q 10
2411 DST079 Distal Trisomy 5q 10
2412 DST089 Distal Trisomy 3p 10
2413 CNG062 Congenital Bronchobiliary Fistula 10
2414 OBS541 Obsolete: Bullous Systemic Lupus Erythematosus 10
2415 CTR009 Cataract Congenital Dominant Non Nuclear 10
2416 CLS033 Clostridium Sordellii Infection 10
2417 CQR001 Coq-Responsive Oxphos Deficiency 10
2418 LRY045 Laryngeal Abductor Paralysis-Intellectual Disability Syndrome 10
2419 CHR234 Chromosome 21q Duplication 10
2420 TRS009 Trisomy 12 Mosaicism 10
2421 DFF017 Diffuse Cavernous Hemangioma of the Rectum 10
2422 BRN058 Brunsting-Perry Syndrome 10
2423 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 10
2424 DDY001 Didymosis Aplasticosebacea 10
2425 IDP079 Idiopathic Dropped Head Syndrome 10
2426 RDT016 Radiation-Induced Plexopathy 10
2427 CHN026 Chondrodysplasia Calcificans Metaphysealis 10
2428 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 10
2429 RNP002 Renoprival Hypertension 10
2430 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 10
2431 CRN207 Coronary Sinus Stenosis 10
2432 ART161 Aortic Malformation 10
2433 ADV004 Adverse Events of 5-Alpha-Reductase Inhibitors 10
2434 LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 10
2435 RSR001 Reese Retinal Dysplasia 10
2436 CHR237 Chromosome 2p Deletion 10
2437 PRC041 Pericardial and Diaphragmatic Defect 10
2438 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 10
2439 RTN201 Retinoschisis, Autosomal Dominant 10
2440 MCL020 Macules Hereditary Congenital Hypopigmented and Hyperpigmented 10
2441 ATS074 Autosomal Recessive Ataxia Due to Pex10 Deficiency 10
2442 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
2443 CNG278 Congenital Pseudoarthrosis of the Radius 10
2444 RTN189 Retinal Capillary Malformation 10
2445 STT042 Stt3a-Cdg and Stt3b-Cdg 10
2446 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 10
2447 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 10
2448 TTR007 Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 10
2449 TRY006 Tryptophanuria with Dwarfism 10
2450 FCL058 Facial Arteriovenous Malformation 10
2451 HYD056 Hydrocephalus-Cleft Palate-Joint Contractures Syndrome 10
2452 c ANM056 Anomaly of Chromosome 10 10
2453 c PRM185 Primary Essential Cutis Verticis Gyrata 10
2454 c CRY033 Cryofibrinogenemia, Familial Primary 10
2455 STC008 Stocco Dos Santos Syndrome 10
2456 XLN076 X-Linked Cerebellar Ataxia 10
2457 PRT215 Partial Duplication of the Short Arm of Chromosome 2 10
2458 OBS544 Obsolete: Methotrexate Poisoning 10
2459 c CHR201 Chromosome 16, Uniparental Disomy 10
2460 ANN019 Anonychia-Ectrodactyly 10
2461 PLC012 Pleoconial Myopathy with Salt Craving 10
2462 BRZ001 Brazilian Hemorrhagic Fever 10
2463 ACH016 Achard Thiers Syndrome 10
2464 c BRC037 Brachydactyly Type A7 10
2465 CHR191 Chromosome 12q Deletion 10
2466 PRX078 Preaxial Polydactyly of Fingers 10
2467 TRC048 Trichodental Syndrome 10
2468 MTH061 Methotrexate Toxicity or Dose Selection 10
2469 DST085 Distal Trisomy 2q 10
2470 PRS140 Parasitic Myositis 9
2471 LPD038 Lipedematous Scalp 9
2472 BRR006 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 9
2473 c PLY176 Polycystic Kidney Disease 4 9
2474 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 9
2475 RLF001 Rela Fusion-Positive Ependymoma 9
2476 HFT001 Hooft Disease 9
2477 PLY165 Polyosteolysis-Hyperostosis Syndrome 9
2478 DYT004 Dyt-Prkra 9
2479 TTR006 Tetraamelia Multiple Malformations X-Linked 9
2480 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 9
2481 HMR042 Humero-Ulnar Synostosis 9
2482 AGN006 Agnathia-Microstomia-Synotia 9
2483 SCR023 Sacral Plexopathy 9
2484 CNG255 Congenital Temporomandibular Joint Ankylosis 9
2485 c PST077 Posterior Meningocele 9
2486 HRP036 Herpesvirus Simiae B Virus Infection 9
2487 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
2488 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
2489 c PTL011 Patella, Familial Recurrent Dislocation of 9
2490 THL008 Thalamic Degeneration, Symmetric Infantile 9
2491 c CHR364 Chromosome 18 Pericentric Inversion 9
2492 MCR035 Macrodactyly of the Hand 9
2493 P RCR003 Recurrent Peripheral Facial Palsy 9
2494 SPL017 Splenogonadal Fusion Limb Defects Micrognatia 9
2495 ZSK001 Zuska's Disease 9
2496 c HLL012 Hallermann-Streiff-Like Syndrome 9
2497 IDP042 Idiopathic Recurrent Stupor 9
2498 c PRR042 Pure or Complex Autosomal Recessive Spastic Paraplegia 9
2499 c PRM317 Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan 9
2500 OBS123 Obsolete: Amniotic Bands 9
2501 SLL006 Sillence Syndrome 9
2502 INC014 Incessant Infant Ventricular Tachycardia 9
2503 DST071 Distal Monosomy 19p13.3 9
2504 c ERL039 Early-Onset Anterior Polar Cataract 9
2505 PRT219 Partial Duplication of the Short Arm of Chromosome 6 9
2506 DST076 Distal Trisomy 13q 9
2507 c ALC031 Alacrima, Congenital, Autosomal Dominant 9
2508 CHR287 Chronic Polyradiculoneuritis 9
2509 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 9
2510 c ATS405 Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction 9
2511 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 9
2512 ACT096 Acute Cholinergic Dysautonomia 9
2513 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 9
2514 ARW003 Airway-Centered Interstitial Fibrosis 9
2515 MSC013 Mosaic Monosomy 18 9
2516 SLF008 Self-Healing Papular Mucinosis 9
2517 c ATS471 Autosomal Dominant Complex Spastic Paraplegia 9
2518 CRB054 Cerebellar Astrocytoma, Childhood 9
2519 HLP003 Holoprosencephaly Ectrodactyly Cleft Lip Palate 9
2520 c SPN124 Spondylocostal Dysostosis 4 9
2521 GNT037 Genetic Hyperferritinemia Without Iron Overload 9
2522 c UNP010 Uniparental Disomy of Chromosome 13 9
2523 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
2524 SNS012 Sinus Node Disease and Myopia 9
2525 JVN017 Juvenile Macular Degeneration and Hypotrichosis 9
2526 MTC191 Mitochondrial Dna-Related Mitochondrial Myopathy 9
2527 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
2528 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
2529 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
2530 c MCR185 Macrodactyly of Toes 9
2531 c OBS550 Obsolete: Ehlers-Danlos Syndrome Type 2 9
2532 CRH002 Crohn's Disease of the Esophagus 9
2533 c CNG249 Congenital Pulmonary Venous Return Anomaly 9
2534 c SCN085 Secondary Ectropion 9
2535 CNG117 Congenital Nonhemolytic Jaundice 9
2536 LKN006 Leukoencephalopathy, Cerebral Calcifications, and Cysts 9
2537 ADN079 Adenosine Triphosphatase Deficiency, Anemia Due to 9
2538 HYP176 Hypertelorism and Tetralogy of Fallot 9
2539 DBR003 Dobrow Syndrome 9
2540 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
2541 DST078 Distal Trisomy 6q 9
2542 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 9
2543 DVL026 Developmental Defect of the Eye 9
2544 ECT107 Ectasia of the Left Atrial Appendage 9
2545 c CNG251 Congenital Pericardium Anomaly 9
2546 9Q3002 9q33.3q34.11 Microdeletion Syndrome 9
2547 ESP045 Esophageal Malformation 9
2548 MCR034 Macrodactyly of the Foot 9
2549 TRS013 Trisomy 3 Mosaicism 9
2550 HLL011 Hall-Riggs Syndrome 9
2551 ISL065 Isolated Congenital Alacrima 9
2552 MLT172 Multiple Metaphyseal Dysplasia 9
2553 CHR216 Chromosome 19p Duplication 9
2554 CNG097 Congenital Giant Megaureter 9
2555 c OBS841 Obsolete: Ehlers-Danlos Syndrome Type 7a 9
2556 GRN018 Granulomas, Congenital Cerebral 9
2557 HMP015 Hemophagocytic Reticulosis 9
2558 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 9
2559 BNG090 Benign Nocturnal Alternating Hemiplegia of Childhood 9
2560 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 9
2561 P RRN017 Rare Intellectual Disability 9
2562 ACC010 Accessory Tricuspid Valve Tissue 9
2563 ABS006 Absent Breasts and Nipples 9
2564 CHR245 Chromosome 3q Deletion 9
2565 CTR030 Citrulline Transport Defect 9
2566 PTT019 Pituitary Dwarfism with Large Sella Turcica 9
2567 c DNS005 Duane Syndrome Type 3 9
2568 GNT022 Giant Mammary Hamartoma 9
2569 GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 9
2570 HM3001 Hemi 3 Syndrome 9
2571 KPL001 Kaplan Plauchu Fitch Syndrome 9
2572 MTH067 Methylmalonic Acidemia with Homocystinuria Type Cblj 9
2573 MYS066 Myosinopathies 9
2574 OPH015 Ophn1 Syndrome 9
2575 RLN004 Rolandic Epilepsy-Speech Dyspraxia Syndrome 9
2576 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
2577 PRN048 Prenatal Benign Hypophosphatasia 9
2578 PRT241 Partial Deletion of the Long Arm of Chromosome 20 9
2579 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 9
2580 DST057 Distal Trisomy 19q 9
2581 HRD208 Hereditary Angioedema with C1inh Deficiency 9
2582 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 9
2583 XLN210 X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome 8
2584 IDP061 Idiopathic Congenital Hypothyroidism 8
2585 MCR090 Microspherophakia with Hernia 8
2586 GRN053 Grin2b Related Syndrome 8
2587 2MT002 2-Methylacetoacetyl Coa Thiolase Deficiency 8
2588 DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8
2589 MHV001 Mahvash Disease 8
2590 P OBS113 Obsolete: Deletion 4q 8
2591 c ACT189 Acute Neonatal Citrullinemia Type I 8
2592 c UNP009 Uniparental Disomy of Chromosome 20 8
2593 c ISL038 Isolated Focal Cortical Dysplasia Type Ib 8
2594 TRN052 Transient Hyperammonemia of the Newborn 8
2595 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 8
2596 FLV003 Flavimonas Oryzihabitans Infection 8
2597 3LP002 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 8
2598 MCR055 Microcephaly Nonsyndromal 8
2599 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 8
2600 SNG013 Single-Organ Polyarteritis Nodosa 8
2601 c PLR020 Pleuropulmonary Blastoma Type 3 8
2602 FRY005 Fryns Smeets Thiry Syndrome 8
2603 ACT090 Acetyl-Carnitine Deficiency 8
2604 BTH003 Bothriocephalosis 8
2605 MSC014 Mosaic Monosomy 22 8
2606 OVR072 Ovarian Low Malignant Potential Tumor 8
2607 MXL013 Maxillary Arteriovenous Malformation 8
2608 FBL017 Fibular Dimelia-Diplopodia Syndrome 8
2609 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
2610 QLT016 Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan 8
2611 PRP108 Paraparetic Variant of Guillain-Barre Syndrome 8
2612 XLN237 X-Linked Pure Spastic Paraplegia 8
2613 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 8
2614 CHR215 Chromosome 19p Deletion 8
2615 c OBS114 Obsolete: Deletion 20p 8
2616 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 8
2617 PRT230 Partial Duplication of Chromosome 3 8
2618 OBS516 Obsolete: Fibular Aplasia-Tibial Campomelia-Oligosyndactyly Syndrome 8
2619 KLH005 Klhl9-Related Early-Onset Distal Myopathy 8
2620 JNG001 Jung Wolff Back Stahl Syndrome 8
2621 MSL002 Mousa Al Din Al Nassar Syndrome 8
2622 TBB001 Tibia Absent Polydactyly Arachnoid Cyst 8
2623 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 8
2624 ANG056 Angora Hair Nevus 8
2625 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
2626 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 8
2627 ANT052 Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita 8
2628 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
2629 CHR460 Chromosome Xq Deletion 8
2630 c KLL006 Kallmann Syndrome 4 8
2631 MBD002 Mbd25-Related Intellectual Disability 8
2632 SPL023 Split Hand/foot Malformation X-Linked 8
2633 URG002 Urogenital Adysplasia 8
2634 OBS184 Obsolete: Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome 8
2635 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
2636 PLY128 Polyclonal Hyperviscosity Syndrome 8
2637 ERL042 Early-Onset Partial Cataract 8
2638 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 8
2639 c LCT020 Lactic Acidosis, Chronic Adult Form 8
2640 NYS008 Nystagmus, Myoclonic 8
2641 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
2642 MTC024 Mitochondrial Genetic Disorders 8
2643 PRT171 Partial Deletion of the Short Arm of Chromosome 18 8
2644 VRC006 Voriconazole Toxicity 8
2645 CNG290 Congenital Absence of Both Lower Leg and Foot 8
2646 c PTR019 Paternal Uniparental Disomy of Chromosome 5 8
2647 PST076 Postcardiotomy Right Ventricular Failure 8
2648 ESN021 Eosinophilic Mastitis 8
2649 MSM006 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 8
2650 ICH076 Ichthyosis Congenita with Biliary Atresia 8
2651 FLR004 Florid Cystic Endosalpingiosis of the Uterus 8
2652 JHN005 Johnston Aarons Schelley Syndrome 8
2653 OTP003 Oto-Palatal-Digital Syndrome 8
2654 SYS008 Systemic Necrotizing Angitis 8
2655 WRM002 Warman Mulliken Hayward Syndrome 8
2656 SYN101 Syndromic Hypothyroidism 8
2657 ISL028 Isolated Cerebellar Vermis Hypoplasia 8
2658 NDL018 Nodular Urticaria Pigmentosa 8
2659 PRT152 Partial Deletion of Chromosome 10 8
2660 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
2661 PRT207 Partial Duplication of the Short Arm of Chromosome 7 8
2662 ISL108 Isolated Splenogonadal Fusion 8
2663 NNS054 Non-Syndromic Postaxial Polydactyly 8
2664 SYN127 Syndromic Ectopia Lentis 8
2665 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 8
2666 DST087 Distal Trisomy 7p 8
2667 c GM2001 Gm2 Gangliosidosis, 0 Variant 8
2668 MSC018 Mosaic Trisomy 6 8
2669 WSC001 Wisconsin Syndrome 8
2670 PRT159 Partial Deletion of the Short Arm of Chromosome 1 8
2671 c ACQ035 Acquired Angioedema Type 1 8
2672 BRK006 Bork Stender Schmidt Syndrome 8
2673 CRN208 Coronary Sinus Atresia 8
2674 TRD004 Taurodontism, Microdontia, and Dens Invaginatus 8
2675 P TTL001 Total Internal Ophthalmoplegia 8
2676 c ATS360 Autosomal Recessive Intellectual Disability 58 8
2677 SLB001 Saal Bulas Syndrome 8
2678 PRT234 Partial Duplication of Chromosome 7 8
2679 CRB213 Cerebral Organic Aciduria 8
2680 SPR148 Supranuclear Eye Movement Disorder 8
2681 CMP026 Camptodactyly-Ichthyosis Syndrome 7
2682 CTR011 Cataract Hutterite Type 7
2683 INT270 Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome 7
2684 UNV005 Universal Acquired Melanosis 7
2685 EXT055 Extragonadal Germinoma 7
2686 INT355 Intercalary Limb Defects 7
2687 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
2688 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 7
2689 c PRM287 Primary Adult Heart Tumor 7
2690 3Q2004 3q26 Microduplication Syndrome 7
2691 SPN437 Spondylodysplastic Dysplasia 7
2692 c OBS842 Obsolete: Ehlers-Danlos Syndrome Type 7b 7
2693 NNS059 Non-Syndromic Limb Reduction Defect 7
2694 PPL055 Pupil, Egg-Shaped 7
2695 c ALC032 Alacrima, Congenital, Autosomal Recessive 7
2696 c CNG110 Congenital Mumps 7
2697 GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 7
2698 HYP196 Hypodontia, X-Linked 7
2699 PRT151 Partial Deletion of Chromosome 16 7
2700 PRT222 Partial Duplication of Chromosome 8 7
2701 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 7
2702 HYP668 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 7
2703 MCR053 Microcephaly Micropenis Convulsions 7
2704 NTT001 Not Otherwise Specified 3-Mga-Uria Type 7
2705 OBS270 Obsolete: Microcephaly-Seizures-Developmental Delay Syndrome 7
2706 RDT017 Radiation-Induced Disorder 7
2707 CRB063 Cerebello-Olivary Atrophy 7
2708 JRG001 Jorgenson Lenz Syndrome 7
2709 TRB003 Trueb Burg Bottani Syndrome 7
2710 PRT181 Partial Deletion of the Long Arm of Chromosome 8 7
2711 P OBS777 Obsolete: Male Infertility with Impaired Virilization 7
2712 c CRB078 Cerebrocostomandibular-Like Syndrome 7
2713 RFS002 Refsum Disease with Increased Pipecolic Acidemia 7
2714 GNT108 Genetic Infertility 7
2715 FGF013 Fgfr3-Related Chondrodysplasia 7
2716 AMN016 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 7
2717 DWR002 Dauwerse-Peters Syndrome 7
2718 TRS022 Torsade De Pointes, Short-Coupled Variant 7
2719 FBL006 Fibular Aplasia Ectrodactyly 7
2720 LNG103 Lin-Gettig Syndrome 7
2721 MYC020 Mycobacterium Tuberculosis, Susceptibility to Infection by 7
2722 NLD003 Nail Dysplasia, Isolated Congenital 7
2723 PRG024 Progeroid Syndrome Petty Type 7
2724 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 7
2725 TRG018 Trigonocephaly-Broad Thumbs Syndrome 7
2726 VLV045 Vulvovaginal Rhabdomyosarcoma 7
2727 AXN006 Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy 7
2728 c CNG476 Congenital Systemic Arteriovenous Fistula 7
2729 TRN049 Transient Tyrosinemia of the Newborn 7
2730 OBS411 Obsolete: Postaxial Polydactyly of Toes 7
2731 c PRM322 Primary Myoclonus 7
2732 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 7
2733 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 7
2734 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
2735 c ISC013 Isochromosomy Yq 7
2736 c SPS040 Spastic Paraplegia 5b 7
2737 DNS002 Dens in Dente and Palatal Invaginations 7
2738 CRB075 Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease 7
2739 ANT033 Anterior Spinal Artery Stroke 7
2740 DST096 Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies 7
2741 XLN212 X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome 7
2742 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
2743 CHT002 Chitayat Meunier Hodgkinson Syndrome 7
2744 DSH001 Daish Hardman Lamont Syndrome 7
2745 GYF001 Gay Feinmesser Cohen Syndrome 7
2746 KSH002 Kashani Strom Utley Syndrome 7
2747 SYF001 Say-Field-Coldwell Syndrome 7
2748 XLN106 X-Linked Intellectual Disability with or Without Nystagmus 7
2749 ISL026 Isolated Sternocostoclavicular Hyperostosis 7
2750 P PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
2751 PRT177 Partial Deletion of the Long Arm of Chromosome 4 7
2752 RDL019 Radio-Ulnar Synostosis, Unilateral 7
2753 CLF022 Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 7
2754 15Q006 15q13.3 Microduplication Syndrome 7
2755 BTZ001 Baetz-Greenwalt Syndrome 7
2756 BRC020 Brachydactylous Dwarfism Mseleni Type 7
2757 CLF054 Cleft Palate, Cardiac Defects, and Intellectual Disability 7
2758 SCK006 Sackey Sakati Aur Syndrome 7
2759 c SCN009 Scn1a-Related Seizure Disorders 7
2760 CVT002 Cavitary Myiasis 7
2761 UTR059 Uterovaginal Malformation 7
2762 ERL058 Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus 7
2763 c PRT173 Partial Monosomy of the Short Arm of Chromosome 20 7
2764 OKH001 Okihiro Syndrome Due to a Point Mutation 7
2765 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
2766 DSR032 Disorder of Manganese Transport 7
2767 DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 7
2768 MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 7
2769 HYP504 Hypothalamic Hamartomas with Gelastic Seizures 7
2770 NDL019 Nodular Lichen Myxedematosus 7
2771 PHK009 Phakomatosis Cesiomarmorata 7
2772 c MTR079 Maternal Uniparental Disomy of Chromosome 13 7
2773 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 7
2774 CHR259 Chromosome 6q25 Microdeletion Syndrome 7
2775 DND014 Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus 7
2776 PTL005 Patel Bixler Syndrome 7
2777 SGM003 Segmentation Syndrome 1 7
2778 PRT193 Partial Duplication of the Long Arm of Chromosome 11 7
2779 P ISC012 Isochromosome Y 7
2780 CDC005 Cad-Cdg 6
2781 MRT006 Martinez Monasterio Pinheiro Syndrome 6
2782 SMS002 Samson Viljoen Syndrome 6
2783 c NYS019 Nystagmus, Congenital, Autosomal Recessive 6
2784 CNG592 Congenital Aortic Valve Atresia 6
2785 DWR022 Dwarfism, Proportionate, with Hip Dislocation 6
2786 MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 6
2787 ANT036 Anti-Hla Hyperimmunization 6
2788 c CHR162 Chiari Malformation Type 4 6
2789 CRN101 Craniosynostosis Philadelphia Type 6
2790 ESC002 Escobar Syndrome, Type B 6
2791 HMN015 Hamanishi Ueba Tsuji Syndrome 6
2792 IDP014 Idiopathic Alveolar Hypoventilation Syndrome 6
2793 KRS001 Krauss Herman Holmes Syndrome 6
2794 MHT001 Mehta Lewis Patton Syndrome 6
2795 ODN003 O Donnell Pappas Syndrome 6
2796 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 6
2797 SCH021 Schaefer Stein Oshman Syndrome 6
2798 SPR029 Spirurida Infections 6
2799 TRY005 Trypanosomiasis, Human West-African 6
2800 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 6
2801 CMM016 Commissural Lip Fistula 6
2802 c ANM065 Anomaly of Chromosome 16 6
2803 PRT242 Partial Deletion of the Long Arm of Chromosome 21 6
2804 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 6
2805 DST058 Distal Monosomy 12p 6
2806 CNG261 Congenital Insensitivity to Pain with Hyperhidrosis 6
2807 ATS105 Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 6
2808 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 6
2809 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 6
2810 FCL071 Facial Diplegia with Paresthesias 6
2811 STP010 Staphylococcal Necrotizing Pneumonia 6
2812 DST074 Distal Trisomy 20q 6
2813 DST075 Distal Trisomy 16q 6
2814 CHR512 Cheirospondyloenchondromatosis 6
2815 P OBS151 Obsolete: Channelopathy 6
2816 P OBS768 Obsolete: Male Infertility with Normal Virilization 6
2817 AML008 Amelogenesis Imperfecta Local Hypoplastic 6
2818 ARR003 Arroyo Garcia Cimadevilla Syndrome 6
2819 c ATS410 Autosomal Dominant Intellectual Disability 49 6
2820 INF139 Infantile Choroidocerebral Calcification Syndrome 6
2821 MSS003 Massa Casaer Ceulemans Syndrome 6
2822 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 6
2823 SCH034 Schwartz Cohen-Addad Lambert Syndrome 6
2824 SRS008 Seres-Santamaria Arimany Muniz Syndrome 6
2825 BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 6
2826 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 6
2827 GNT139 Genetic Intractable Diarrhea of Infancy 6
2828 CNG091 Congenital Ectodermal Dysplasia with Hearing Loss 6
2829 LWR006 Lower Mesodermal Defects Sequence 6
2830 SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 6
2831 ORG008 Orgasm-Induced Seizures 6
2832 LPT012 Leptomyelolipoma 6
2833 ISL034 Isolated Megalencephaly 6
2834 c ATS463 Autosomal Dominant Cerebellar Ataxia Type Iv 6
2835 P DSR041 Disorder of Multiple Glycosylation 6
2836 ACR117 Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 6
2837 PLY164 Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 6
2838 c MLG021 Malignant Sertoli-Leydig Cell Tumor 6
2839 3LP001 3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency 6
2840 ALP024 Alopecia Universalis Onychodystrophy Vitiligo 6
2841 AMN008 Aminolevulinate Dehydratase Deficiency Porphyria 6
2842 CMP033 Complement Receptor Deficiency 6
2843 FRN018 Frenkel Russe Syndrome 6
2844 GNR045 Generalized Lipodystrophy-Associated Progeroid Syndrome 6
2845 MCP019 Mcpherson Robertson Cammarano Syndrome 6
2846 SMS001 Samson Gardner Syndrome 6
2847 THL007 Thalamic Degeneration Symmetrical Infantile 6
2848 ZDK001 Zadik Barak Levin Syndrome 6
2849 MYP061 Myopathy with Hexagonally Cross-Linked Tubular Arrays 6
2850 7Q3001 7q31 Microdeletion Syndrome 6
2851 PRT148 Partial Deletion of Chromosome 6 6
2852 DST054 Distal 17p13.3 Microdeletion Syndrome 6
2853 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
2854 CNF001 Confetti-Like Macular Atrophy 6
2855 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
2856 KTM001 Ketamine-Induced Biliary Dilatation 6
2857 GNT163 Genetic Alopecia 6
2858 SCL040 Scleromyxedema Without Monoclonal Gammopathy 6
2859 ISL149 Isolated Nail Anomaly 6
2860 IDP088 Idiopathic Isolated Micropenis 6
2861 TBL020 Tubular Duplication of the Esophagus 6
2862 c ATS403 Autosomal Dominant Intellectual Disability 40 6
2863 GNT014 Genetic Reflex Epilepsy 6
2864 c BNG038 Benign Autosomal Dominant Myopathy 6
2865 CRN072 Coronaro-Cardiac Fistula 6
2866 CRT077 Cortical Blindness-Intellectual Disability-Polydactyly Syndrome 6
2867 LVT002 Levotransposition of the Great Arteries 6
2868 PRG025 Progeroid Syndrome, Penttinen Type 6
2869 RKT002 Rokitansky Sequence 6
2870 OBS426 Obsolete: Glycogen Storage Disease Due to Acid Maltase Deficiency, Juvenile Onset 6
2871 c HYD017 Hydrocephalus Autosomal Recessive 6
2872 c ACR048 Acrorenal Syndrome Recessive 6
2873 ANN003 Anencephaly and Spina Bifida X-Linked 6
2874 BKR001 Baker Vinters Syndrome 6
2875 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 6
2876 CLR028 Ciliary Dyskinesia-Bronchiectasis 6
2877 DRK001 Der Kaloustian Mcintosh Silver Syndrome 6
2878 DPR003 Diprosopia 6
2879 DYT008 Dyt/park-Gch1 6
2880 GHS002 Ghose Sachdev Kumar Syndrome 6
2881 HRR001 Harrod Doman Keele Syndrome 6
2882 KZL001 Kozlowski Brown Hardwick Syndrome 6
2883 MRT004 Maroteaux Fonfria Syndrome 6
2884 MGL005 Megalocornea - Spherophakia - Secondary Glaucoma 6
2885 MSM005 Mesomelic Dwarfism Cleft Palate Camptodactyly 6
2886 PLL007 Pillay Syndrome 6
2887 PDD001 Podder-Tolmie Syndrome 6
2888 RZC001 Ruzicka Goerz Anton Syndrome 6
2889 THN007 Thinking Seizures 6
2890 OBS134 Obsolete: Syndrome Associated with Pierre Robin Syndrome 6
2891