Rare Diseases Category (15241 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 20
2 c HYP595 Hypertension, Essential 84
3 P RHM011 Rheumatoid Arthritis 80
4 P NRF023 Neurofibromatosis, Type Ii 76
5 c HMC039 Hemochromatosis, Type 1 74
6 ACR006 Aceruloplasminemia 73
7 AGM019 Agammaglobulinemia, X-Linked 72
8 BSL036 Basal Cell Nevus Syndrome 72
9 P WSK001 Wiskott-Aldrich Syndrome 71
10 P SRC025 Sarcoidosis 1 70
11 MYL009 Myelodysplastic Syndrome 70
12 P BRG001 Brugada Syndrome 70
13 P FRG001 Fragile X Syndrome 68
14 P MYC084 Mycobacterium Tuberculosis 1 68
15 c FML021 Familial Hypercholesterolemia 68
16 P DBT085 Diabetes Mellitus, Insulin-Dependent 67
17 BLM001 Bloom Syndrome 66
18 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
19 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 66
20 ART001 Arterial Tortuosity Syndrome 66
21 P LYS001 Loeys-Dietz Syndrome 66
22 LWC002 Lowe Oculocerebrorenal Syndrome 66
23 OMN001 Omenn Syndrome 66
24 CHG001 Chagas Disease 66
25 P LNG028 Long Qt Syndrome 65
26 P HRM001 Hermansky-Pudlak Syndrome 65
27 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 65
28 DMN031 Dementia, Lewy Body 65
29 P MCP040 Mucopolysaccharidosis-Plus Syndrome 64
30 MVL001 Mevalonic Aciduria 64
31 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64
32 MYC079 Myoclonic Epilepsy of Lafora 64
33 P SPN046 Spinal Muscular Atrophy 64
34 BLS001 Blau Syndrome 64
35 c ART101 Aortic Valve Disease 2 63
36 MSC007 Muscle Hypertrophy 63
37 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 63
38 LYM017 Lyme Disease 63
39 TYP007 Typhoid Fever 63
40 P NTR004 Neutropenia 63
41 P PRD008 Periodontitis 62
42 TMT001 Timothy Syndrome 62
43 ESP020 Esophageal Atresia 62
44 TKY002 Takayasu Arteritis 61
45 CHR066 Chronic Fatigue Syndrome 61
46 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
47 BRC012 Brucellosis 61
48 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 61
49 LCR014 Lacrimoauriculodentodigital Syndrome 61
50 CYC010 Cyclic Neutropenia 61
51 SDD001 Sudden Infant Death Syndrome 61
52 RHM001 Rheumatic Fever 61
53 DRR014 Darier-White Disease 61
54 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
55 HYP810 Hypereosinophilic Syndrome, Idiopathic 61
56 P CHL002 Childhood Absence Epilepsy 60
57 CHR619 Chromosome 2q35 Duplication Syndrome 60
58 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 60
59 CHR001 Churg-Strauss Syndrome 60
60 ARG002 Argininosuccinic Aciduria 60
61 P NMN002 Niemann-Pick Disease 60
62 ASP002 Aspartylglucosaminuria 60
63 P SCL018 Scoliosis 60
64 STT001 Status Epilepticus 59
65 IMM174 Immunodeficiency with Hyper-Igm, Type 1 59
66 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59
67 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
68 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59
69 TTZ003 Tietz Albinism-Deafness Syndrome 58
70 ANT024 Anthrax Disease 58
71 PMS001 Poems Syndrome 58
72 SCR008 Scrub Typhus 58
73 P URT039 Urticaria 58
74 P CMR001 Camurati-Engelmann Disease 58
75 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 58
76 P PLY006 Polydactyly 58
77 P SCK004 Seckel Syndrome 57
78 P HDC001 Headache 57
79 RSP019 Respiratory Distress Syndrome in Premature Infants 57
80 LYS003 Lysinuric Protein Intolerance 56
81 P STR020 Strabismus 56
82 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 56
83 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 56
84 ALP097 Alopecia Universalis Congenita 56
85 SFT003 Soft Tissue Sarcoma 56
86 PPL025 Popliteal Pterygium Syndrome 56
87 P ALP008 Alopecia 56
88 DBL002 Double Outlet Right Ventricle 56
89 P PLY011 Polycystic Ovary Syndrome 56
90 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56
91 P PNM006 Pneumoconiosis 55
92 SYN007 Synovitis 55
93 P BRT004 Bartter Disease 55
94 c SCN036 Secondary Progressive Multiple Sclerosis 55
95 c CCK008 Cockayne Syndrome a 55
96 P ATR001 Atrioventricular Septal Defect 55
97 P WLL002 Weill-Marchesani Syndrome 55
98 P DBT005 Diabetes Insipidus 55
99 DXT001 Dextrocardia 55
100 HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55
101 c INT064 Intermediate Uveitis 55
102 P ANT006 Antiphospholipid Syndrome 54
103 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 54
104 HYP458 Hyper Ige Syndrome 54
105 c OST163 Osteopetrosis, Autosomal Recessive 3 54
106 ACR058 Acrofacial Dysostosis 1, Nager Type 54
107 RLP001 Relapsing Polychondritis 54
108 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 54
109 ORT008 Orotic Aciduria 54
110 c PST005 Posterior Uveitis 54
111 HLL004 Hellp Syndrome 53
112 CHK001 Chikungunya 53
113 VCS001 Vici Syndrome 53
114 P RTN016 Retinal Degeneration 53
115 HDR002 Hidradenitis Suppurativa 53
116 HYP706 Hypermobile Ehlers-Danlos Syndrome 53
117 MMB001 Membranoproliferative Glomerulonephritis 53
118 P ART018 Aortic Valve Insufficiency 53
119 P NLX004 Neu-Laxova Syndrome 1 53
120 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53
121 c WRD033 Waardenburg Syndrome, Type 2e 53
122 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 52
123 c LTN004 Late-Onset Retinal Degeneration 52
124 P VSC013 Visceral Heterotaxy 52
125 PRN011 Pernicious Anemia 52
126 P ACT105 Acute Mountain Sickness 52
127 FLT011 Felty Syndrome 52
128 ERD001 Erdheim-Chester Disease 52
129 INF034 Infective Endocarditis 52
130 P PRR016 Pierre Robin Syndrome 52
131 NTR018 Neutrophilia, Hereditary 52
132 RYS001 Reye Syndrome 51
133 c ACR116 Aicardi-Goutieres Syndrome 1 51
134 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 51
135 MYP136 Myopathy, Centronuclear, X-Linked 51
136 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 51
137 c FNC025 Fanconi Anemia, Complementation Group J 51
138 MCR088 Microscopic Polyangiitis 51
139 MLB001 Mulibrey Nanism 51
140 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 51
141 P LCT001 Lactic Acidosis 51
142 DRR008 Diarrhea 1, Secretory Chloride, Congenital 51
143 GLC004 Galactokinase Deficiency 51
144 P GNG025 Gingival Fibromatosis 51
145 P MNT319 Mental Retardation, Autosomal Dominant 20 51
146 RVS001 Revesz Syndrome 50
147 KRT010 Kartagener Syndrome 50
148 c HMC009 Hemochromatosis Type 2 50
149 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 50
150 P TMP001 Temporal Lobe Epilepsy 50
151 MLT134 Multiple Pterygium Syndrome, Lethal Type 50
152 CHR078 Chorioretinitis 50
153 c MTC054 Mitochondrial Dna Depletion Syndrome 7 50
154 RLP003 Relapsing Fever 50
155 RDL002 Radioulnar Synostosis 50
156 CSY001 C Syndrome 50
157 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
158 P OVR082 Overgrowth Syndrome 50
159 ALV002 Alveolar Echinococcosis 50
160 P ALP061 Alopecia, Androgenetic, 1 49
161 c LYS020 Loeys-Dietz Syndrome 5 49
162 MYC012 Mycetoma 49
163 47X002 47,xyy 49
164 PLM041 Pulmonary Valve Stenosis 49
165 BLS002 Blastomycosis 49
166 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 49
167 LPD016 Lipoid Proteinosis of Urbach and Wiethe 49
168 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49
169 KBG001 Kbg Syndrome 49
170 c ART120 Arthrogryposis, Distal, Type 3 49
171 c BRD018 Bardet-Biedl Syndrome 6 48
172 P CMP008 Compartment Syndrome 48
173 MLT145 Multiple Enchondromatosis, Maffucci Type 48
174 MCR020 Microsporidiosis 48
175 c ART155 Arthrogryposis, Distal, Type 2b1 48
176 TBR011 Tuberculous Meningitis 48
177 P JVN007 Juvenile Absence Epilepsy 48
178 ERY004 Erysipelas 48
179 P SCL015 Scleritis 48
180 FBR032 Fibromuscular Dysplasia 48
181 SND002 Sneddon Syndrome 48
182 NCR004 Nocardiosis 48
183 SPH010 Sphingolipidosis 47
184 NNT017 Neonatal Adrenoleukodystrophy 47
185 RSP023 Rasopathy 47
186 MYP151 Myopathy, Congenital, Bailey-Bloch 47
187 c CNT075 Central Precocious Puberty 47
188 c AXN009 Axenfeld-Rieger Syndrome, Type 1 47
189 P TRT019 Torticollis 47
190 HYP801 Hyperferritinemia with or Without Cataract 47
191 VRN004 Vernal Keratoconjunctivitis 47
192 PRS127 Pearson Marrow-Pancreas Syndrome 47
193 c FNC032 Fanconi Anemia, Complementation Group B 47
194 NNC002 Nance-Horan Syndrome 47
195 TTR011 Tetraploidy 47
196 c MLG069 Malignant Hypertension 47
197 FBL002 Fibular Hypoplasia and Complex Brachydactyly 47
198 P TRM004 Trimethylaminuria 47
199 CRY008 Cryopyrin-Associated Periodic Syndrome 47
200 PRG033 Progressive Non-Fluent Aphasia 47
201 P VTR007 Vitreoretinopathy 46
202 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46
203 ASB001 Asbestosis 46
204 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
205 MYL013 Myeloperoxidase Deficiency 46
206 MNC019 Monocarboxylate Transporter 1 Deficiency 46
207 P BLR006 Biliary Tract Disease 46
208 CNG028 Congenital Hypoplastic Anemia 46
209 c BRD032 Bardet-Biedl Syndrome 14 46
210 PRX001 Peroxisomal Disease 46
211 ENC010 Encephalocraniocutaneous Lipomatosis 46
212 P WHT013 White Sponge Nevus 1 46
213 NSS002 Neisseria Meningitidis Infection 46
214 MNN032 Meningococcal Meningitis 46
215 c HYP575 Hypotrichosis 7 46
216 VNZ002 Venezuelan Equine Encephalitis 46
217 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 46
218 EBL001 Ebola Hemorrhagic Fever 46
219 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 46
220 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 46
221 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 46
222 c JBR012 Joubert Syndrome 5 46
223 PST027 Postencephalitic Parkinson Disease 45
224 c VNW008 Von Willebrand Disease, Type 3 45
225 MCR037 Macroglossia 45
226 LMB050 Limbal Stem Cell Deficiency 45
227 PKL001 Poikiloderma with Neutropenia 45
228 GLL048 Glial Tumor 45
229 c KNB006 Knobloch Syndrome 1 45
230 STS002 Situs Inversus 45
231 BRL010 Buruli Ulcer 45
232 NNK001 Nonaka Myopathy 45
233 DYG001 Dyggve-Melchior-Clausen Disease 45
234 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45
235 c GM2006 Gm2 Gangliosidosis 45
236 c XFP001 Xfe Progeroid Syndrome 45
237 c BRC109 Brachydactyly, Type E1 45
238 FSH001 Fish-Eye Disease 45
239 GRN007 Granuloma Annulare 45
240 c 3MT014 3-Methylglutaconic Aciduria, Type V 45
241 NNS002 Nonspecific Interstitial Pneumonia 45
242 c NML004 Nemaline Myopathy 3 45
243 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 45
244 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45
245 PTT037 Pituitary Tumors 44
246 c ZLL011 Zellweger Spectrum Disorder 44
247 c EPP014 Epiphyseal Dysplasia, Multiple, 4 44
248 GRN017 Granulocytopenia 44
249 CHN010 Chondroma 44
250 JVN033 Juvenile Nasopharyngeal Angiofibroma 44
251 MNG006 Monogenic Diabetes 44
252 c RTS003 Ritscher-Schinzel Syndrome 1 44
253 PLN005 Palindromic Rheumatism 44
254 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 44
255 c LNG050 Long Qt Syndrome 5 44
256 ATR013 Atrichia with Papular Lesions 44
257 P HRT035 Heart Block, Congenital 44
258 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 44
259 CHL109 Childhood Apraxia of Speech 44
260 SPN119 Spondylarthropathy 44
261 VLV044 Vulvar Intraepithelial Neoplasia 44
262 CYT002 Cytokine Deficiency 44
263 c RTN172 Retinitis Pigmentosa 1 44
264 c JVN003 Juvenile Xanthogranuloma 44
265 TRS002 Tarsal-Carpal Coalition Syndrome 44
266 c MCL043 Macular Degeneration, Age-Related, 2 44
267 DWR001 Dwarfism 44
268 P SDR002 Siderosis 44
269 c CTR096 Cataract 6, Multiple Types 43
270 ACR012 Aicardi Syndrome 43
271 c SPN308 Spinocerebellar Ataxia 28 43
272 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
273 P SYN075 Syngnathia 43
274 P HYP078 Hypertrophy of Breast 43
275 SBL008 Sea-Blue Histiocyte Disease 43
276 IDP033 Idiopathic Edema 43
277 PRN049 Paraneoplastic Pemphigus 43
278 c HRD173 Hereditary Late-Onset Parkinson Disease 43
279 HSD004 Hsd10 Mitochondrial Disease 43
280 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 43
281 IDP073 Idiopathic Hypercalciuria 43
282 c BRT038 Baraitser-Winter Syndrome 1 43
283 DYS018 Dysostosis 43
284 c 46X002 46 Xx Gonadal Dysgenesis 43
285 c FNC057 Fanconi Anemia, Complementation Group U 43
286 ANP009 Anaplastic Oligodendroglioma 43
287 P STR092 Striatal Degeneration, Autosomal Dominant 2 43
288 LSS001 Loiasis 42
289 FCL022 Focal Dystonia 42
290 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 42
291 HMP009 Haemophilus Influenzae 42
292 P JVN008 Juvenile Glaucoma 42
293 DSC009 Discoid Lupus Erythematosus 42
294 OGD001 Ogden Syndrome 42
295 TRP006 Tarp Syndrome 42
296 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 42
297 P CLL015 Collagen Disease 42
298 PRS115 Prosthetic Joint Infection 42
299 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
300 P LTH003 Lethal Congenital Contracture Syndrome 42
301 C1Q001 C1q Deficiency 42
302 P RNG032 Ring Chromosome 42
303 BBN001 Bubonic Plague 42
304 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 42
305 P HYP087 Hypotrichosis 42
306 c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42
307 P PRP034 Purpura Fulminans 42
308 PHH001 Phaeohyphomycosis 42
309 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 41
310 c SCK015 Seckel Syndrome 2 41
311 c CNG023 Congenital Fibrosarcoma 41
312 ATP013 Atopic Keratoconjunctivitis 41
313 PLG004 Plagiocephaly 41
314 GGR001 Geographic Tongue 41
315 PRK003 Parkes Weber Syndrome 41
316 49X006 49, Xxxxy Syndrome 41
317 c HYP507 Hypotrichosis 1 41
318 c RTN090 Retinitis Pigmentosa 55 41
319 DYS032 Dystrophinopathies 41
320 CHR492 Chromosome 13q14 Deletion Syndrome 41
321 c CLR136 Ciliary Dyskinesia, Primary, 9 41
322 c LNG056 Long Qt Syndrome 12 41
323 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 41
324 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
325 c RTN180 Retinitis Pigmentosa 74 41
326 UND011 Undetermined Early-Onset Epileptic Encephalopathy 41
327 PYG006 Pyogenic Granuloma 40
328 HYP466 Hyperplastic Polyposis Syndrome 40
329 STP004 Staphylococcal Toxic Shock Syndrome 40
330 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 40
331 KRT063 Keratocystic Odontogenic Tumor 40
332 INH001 Inhalation Anthrax 40
333 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
334 c ACT067 Acute Conjunctivitis 40
335 RCK002 Rocky Mountain Spotted Fever 40
336 c RTN054 Retinitis Pigmentosa 25 40
337 c ALZ015 Alzheimer Disease 6 40
338 c DYS067 Dystonia 6, Torsion 40
339 c CNG027 Congenital Hemolytic Anemia 40
340 c NML006 Nemaline Myopathy 5 40
341 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 40
342 VLV042 Vulvar Vestibulitis Syndrome 40
343 IDP064 Idiopathic Neutropenia 40
344 c RTN066 Retinitis Pigmentosa 4 40
345 DNS007 Dense Deposit Disease 40
346 BLR027 Blue Rubber Bleb Nevus 40
347 P MCR364 Macrodactyly 40
348 PLY100 Polyploidy 40
349 RTC012 Reticuloendotheliosis, X-Linked 40
350 CLP005 Ciliopathy 40
351 SPS019 Spastic Paraparesis 40
352 KFM001 Kaufman Oculocerebrofacial Syndrome 39
353 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 39
354 HRP025 Herpes Simplex Virus Keratitis 39
355 GLM044 Glomerular Disease 39
356 MJD001 Majeed Syndrome 39
357 c RTN062 Retinitis Pigmentosa 33 39
358 HTR014 Heterotaxy, Visceral, 1, X-Linked 39
359 GBT001 Gaba-Transaminase Deficiency 39
360 ESN002 Eosinophilia-Myalgia Syndrome 39
361 HYP137 Hypotrichosis Simplex 39
362 c SPH014 Spherocytosis, Type 2 39
363 PRM329 Premature Aging 39
364 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 39
365 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
366 c HYP581 Hypotrichosis 6 39
367 c LNG057 Long Qt Syndrome 13 39
368 ANG002 Angiostrongyliasis 39
369 P NNT042 Neonatal Lupus Erythematosus 39
370 CRV045 Cervical Intraepithelial Neoplasia 39
371 SML028 Semilobar Holoprosencephaly 39
372 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
373 c ACQ012 Acquired Angioedema 39
374 PCH007 Pouchitis 39
375 SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39
376 ORN001 Ornithosis 39
377 WLL004 Wallerian Degeneration 39
378 P LCR008 Lacrimal Apparatus Disease 39
379 HTR003 Heterotaxy 39
380 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39
381 c ERL056 Early-Onset Parkinson's Disease 39
382 SPN221 Spina Bifida Occulta 38
383 IND002 Indolent Systemic Mastocytosis 38
384 c CNR005 Cone-Rod Dystrophy 3 38
385 DYS030 Dysferlinopathy 38
386 c ACT159 Acute Transverse Myelitis 38
387 c PSR032 Psoriasis 11 38
388 c LNG046 Long Qt Syndrome 11 38
389 c LNG098 Long Qt Syndrome 14 38
390 c HYP559 Hypotrichosis 8 38
391 c JBR028 Joubert Syndrome 13 38
392 CRB081 Cerebellar Ataxia, Cayman Type 38
393 MNK002 Monkeypox 38
394 HNZ004 Heinz Body Anemias 38
395 c RTN114 Retinitis Pigmentosa 58 38
396 LWG005 Low-Grade Astrocytoma 38
397 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 38
398 ALG027 Al-Gazali-Bakalinova Syndrome 38
399 AMN006 Aminoaciduria 38
400 FSR001 Fusariosis 38
401 CRT055 Creatine Deficiency Syndromes 38
402 SPC031 Specific Learning Disability 38
403 c CND011 Cone Dystrophy 3 38
404 MRN002 Mooren's Ulcer 38
405 GNT006 Giant Papillary Conjunctivitis 38
406 CRD016 Cardiac Rupture 38
407 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 38
408 P CNT009 Central Core Myopathy 38
409 c CHR091 Chronic Meningitis 38
410 KNZ001 Kanzaki Disease 37
411 CLC008 Colchicine Resistance 37
412 OCH001 Ochronosis 37
413 PTT045 Pituitary Hormone Deficiency, Combined, 1 37
414 MNN021 Meningococcemia 37
415 P CNG048 Congenital Hepatic Fibrosis 37
416 c CHR020 Chronic Interstitial Cystitis 37
417 BLP004 Blepharophimosis 37
418 NNL001 Non-Langerhans-Cell Histiocytosis 37
419 c SCH080 Schizophrenia 3 37
420 STR077 Streptococcal Toxic-Shock Syndrome 37
421 PRT048 Partial Atrioventricular Canal 37
422 c RTN048 Retinitis Pigmentosa 19 37
423 SPN331 Spondyloocular Syndrome 37
424 MYT003 Myotonic Disease 37
425 c GLM047 Glioma Susceptibility 3 37
426 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 37
427 MYC017 Mycobacterium Kansasii 37
428 c RTN052 Retinitis Pigmentosa 23 37
429 c BNG021 Benign Essential Hypertension 37
430 c HYP510 Hyperekplexia 2 37
431 SYN086 Synostoses, Tarsal, Carpal, and Digital 36
432 SHW001 Shwartzman Phenomenon 36
433 c SYN084 Synpolydactyly 1 36
434 HRY002 Hairy Tongue 36
435 P BRT040 Baraitser-Winter Syndrome 36
436 PDT025 Pediatric Multiple Sclerosis 36
437 UVL010 Uveal Disease 36
438 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 36
439 RVL002 Ruvalcaba Syndrome 36
440 DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 36
441 c ELL005 Elliptocytosis 2 36
442 c RNG004 Ring Chromosome 1 36
443 HMM005 Hemimelia 36
444 P OVR075 Ovarian Dysgenesis 1 36
445 PLY036 Polyembryoma 36
446 c NGH027 Night Blindness, Congenital Stationary, Type 1c 36
447 P SYN059 Syndactyly, Type V 36
448 MTG002 Mutagen Sensitivity 36
449 c ALB015 Albinism, Oculocutaneous, Type V 36
450 P FML168 Familial Isolated Pituitary Adenoma 36
451 c CTR174 Cataract 40 36
452 c MCR329 Microcephaly, Autosomal Dominant 36
453 ARG001 Argentine Hemorrhagic Fever 36
454 CNT057 Central Centrifugal Cicatricial Alopecia 36
455 c PRM015 Primary Cerebellar Degeneration 36
456 c RTN106 Retinitis Pigmentosa 51 36
457 c HTR021 Heterotaxy, Visceral, 5, Autosomal 36
458 ASC009 Ascites, Chylous 36
459 ISL109 Isolated Cleft Lip 36
460 BRN041 Bornholm Eye Disease 36
461 c CLR135 Ciliary Dyskinesia, Primary, 7 35
462 c KRT029 Keratoconus 1 35
463 P DNT007 Dentin Sensitivity 35
464 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
465 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
466 P HVY001 Heavy Chain Disease 35
467 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
468 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 35
469 CRB079 Cerebrospinal Fluid Leak 35
470 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
471 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 35
472 LCT013 Lactase Deficiency, Congenital 35
473 FST010 Fasting Hypoglycemia 35
474 c CTR095 Cataract 8, Multiple Types 35
475 PCT001 Pectus Carinatum 35
476 LNR004 Linear Porokeratosis 35
477 c RTN046 Retinitis Pigmentosa 17 35
478 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
479 ATH010 Athyreosis 35
480 c PRM149 Primary Hypereosinophilic Syndrome 35
481 c RTN159 Retinitis Pigmentosa 45 35
482 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 35
483 CHR178 Chromosomal Triplication 35
484 c MCR124 Microphthalmia, Isolated 1 35
485 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
486 LPB001 Lipoblastoma 34
487 AMR003 Amaurosis Fugax 34
488 HMR015 Humeroradial Synostosis 34
489 HNS001 Hansen's Disease 34
490 HYP679 Hypoglossia-Hypodactylia 34
491 BTH002 Bothnia Retinal Dystrophy 34
492 WBR001 Weber Syndrome 34
493 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 34
494 P LNS003 Lens Disease 34
495 BWN003 Bowenoid Papulosis 34
496 c HYP525 Hypotrichosis 2 34
497 HMP018 Hemophilic Arthropathy 34
498 c CTR145 Cataract 44 34
499 c BRG006 Brugada Syndrome 2 34
500 NNT024 Neonatal Stroke 34
501 c RTN136 Retinitis Pigmentosa 44 34
502 P DYS023 Dyschromatosis Universalis Hereditaria 34
503 SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 34
504 c RTN057 Retinitis Pigmentosa 29 34
505 ALZ030 Alazami Syndrome 34
506 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 34
507 c LBR029 Leber Congenital Amaurosis 17 34
508 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 34
509 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
510 STC004 Stachybotrys Chartarum 34
511 47X003 47, Xxy 34
512 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 34
513 P HRD214 Hereditary Periodic Fever Syndrome 34
514 c RST012 Restless Legs Syndrome 1 34
515 c ACQ047 Acquired Methemoglobinemia 34
516 c HYP577 Hypotrichosis 13 34
517 LCH013 Lichen Planus Pemphigoides 34
518 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 34
519 MYC069 Myoclonic-Astastic Epilepsy 34
520 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
521 c RTN171 Retinitis Pigmentosa 59 34
522 SYN106 Syndromic Craniosynostosis 34
523 c MCR245 Microphthalmia, Syndromic 8 34
524 c CNT101 Central Congenital Hypothyroidism 34
525 PPL050 Papillary Tumor of the Pineal Region 33
526 c SPS021 Spastic Paraplegia 10 33
527 c MCL038 Macular Degeneration, Age-Related, 4 33
528 P PRS124 Presynaptic Congenital Myasthenic Syndromes 33
529 MNS001 Mansonelliasis 33
530 LMN011 Laminopathy 33
531 c NGH007 Night Blindness, Congenital Stationary, Type 1b 33
532 c SPL070 Split-Hand/foot Malformation 2 33
533 PRX009 Paroxysmal Hemicrania 33
534 FLP001 Filippi Syndrome 33
535 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 33
536 c STS007 Sotos Syndrome 2 33
537 c WLL040 Weill-Marchesani Syndrome 4 33
538 MTH086 Methotrexate Toxicity 33
539 c CLR066 Ciliary Dyskinesia, Primary, 2 33
540 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 33
541 c BRG012 Brugada Syndrome 9 33
542 NNN007 Non-Involuting Congenital Hemangioma 33
543 CMP040 Complement Component 4, Partial Deficiency of 33
544 RHM034 Rahman Syndrome 33
545 PRG023 Progeroid Short Stature with Pigmented Nevi 33
546 GRN022 Granulosa Cell Tumor of the Ovary 33
547 WRT003 Warthin Tumor 33
548 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 33
549 P CXV002 Coxa Vara 33
550 MCR099 Microlissencephaly 33
551 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33
552 c ATM045 Autoimmune Glomerulonephritis 33
553 c SCH083 Schizophrenia 7 33
554 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 33
555 c BCT006 Bacterial Conjunctivitis 33
556 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 33
557 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 33
558 SCR039 Scorpion Envenomation 33
559 MSC020 Mosaic Trisomy 8 33
560 CHL107 Childhood-Onset Nemaline Myopathy 33
561 SPT023 Septate Uterus 33
562 TXC020 Toxic Oil Syndrome 33
563 NNS011 Nonseminomatous Germ Cell Tumor 33
564 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 33
565 c RTN146 Retinitis Pigmentosa 62 33
566 c ELL006 Elliptocytosis 3 33
567 VRS002 Virus-Associated Trichodysplasia Spinulosa 32
568 CND006 Candida Glabrata 32
569 BWN006 Bowen's Disease 32
570 LPD026 Lipedema 32
571 ODN005 Odontogenic Myxoma 32
572 BRN133 Bronchomalacia 32
573 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 32
574 c BRG008 Brugada Syndrome 6 32
575 P PLY188 Polyendocrinopathy 32
576 OPH002 Ophthalmia Neonatorum 32
577 P SCL047 Sclerocornea 32
578 TRC007 Tricuspid Valve Prolapse 32
579 c EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 32
580 CHR377 Chromosome 10q26 Deletion Syndrome 32
581 P ATX039 Ataxia-Pancytopenia Syndrome 32
582 ISL096 Isolated Klippel-Feil Syndrome 32
583 ASH001 Asherman's Syndrome 32
584 c MLG039 Malignant Essential Hypertension 32
585 c CNR003 Cone-Rod Dystrophy 1 32
586 TBL008 Tibial Hemimelia 32
587 TRC035 Tracheal Agenesis 32
588 BJL001 Bejel 32
589 c INF089 Inflammatory Bowel Disease 6 32
590 c TRN009 Transient Hypogammaglobulinemia of Infancy 32
591 PNC059 Punctate Inner Choroidopathy 32
592 DYS001 Dyskinetic Cerebral Palsy 32
593 WLD005 Wild Type Attr Amyloidosis 32
594 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 32
595 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 32
596 MYC014 Mycobacterium Chelonae 32
597 HMN002 Human Granulocytic Anaplasmosis 32
598 ODN006 Odontoma 32
599 c HYP576 Hypotrichosis 4 31
600 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 31
601 c DSB005 Desbuquois Dysplasia 2 31
602 GLY061 Glycogen Storage Disease 0, Muscle 31
603 c CRN209 Cornelia De Lange Syndrome 5 31
604 HRD218 Hereditary Stomatocytosis 31
605 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 31
606 c CNR013 Cone-Rod Dystrophy 12 31
607 PNT003 Pinta Disease 31
608 CMB017 Combined Oxidative Phosphorylation Deficiency 6 31
609 MYC015 Mycobacterium Fortuitum 31
610 c HYP515 Hypotrichosis 3 31
611 HGH020 High Molecular Weight Kininogen Deficiency 31
612 INT104 Intravascular Papillary Endothelial Hyperplasia 31
613 c ADL019 Adult Fibrosarcoma 31
614 EXN003 Exencephaly 31
615 RFR009 Refractory Cytopenia with Multilineage Dysplasia 31
616 c CNR006 Cone-Rod Dystrophy 5 31
617 LCH014 Lichen Amyloidosis 31
618 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 31
619 PMP009 Pemphigus Erythematosus 31
620 HGH041 High-Grade Astrocytoma 31
621 MXD032 Mixed Germ Cell Tumor 31
622 SPR034 Superior Limbic Keratoconjunctivitis 31
623 ELS002 Elastosis Perforans Serpiginosa 31
624 ATY016 Atypical Werner Syndrome 31
625 ISL061 Isolated Brachycephaly 31
626 c CTR097 Cataract 34, Multiple Types 31
627 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 31
628 c JVN038 Juvenile Myasthenia Gravis 31
629 CHL078 Childhood-Onset Schizophrenia 31
630 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 31
631 MCR379 Microcystic Stromal Tumor 31
632 c BLR024 Biliary Cirrhosis, Primary, 1 30
633 c JBR045 Joubert Syndrome 33 30
634 c PRX051 Peroxisome Biogenesis Disorder 6a 30
635 STT009 Sutton Disease 2 30
636 RST024 Rosette-Forming Glioneuronal Tumor 30
637 PYR016 Pyridoxine Deficiency 30
638 WRF003 Warfarin Syndrome 30
639 c SCK033 Seckel Syndrome 8 30
640 MTR087 Maternal Uniparental Disomy 30
641 ENC014 Enchondroma 30
642 SNG003 Single Ventricular Heart 30
643 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
644 c GLM043 Glioma Susceptibility 9 30
645 DPH003 Diphyllobothriasis 30
646 PST044 Postorgasmic Illness Syndrome 30
647 c RTN130 Retinitis Pigmentosa 46 30
648 SGR001 Sugarman Brachydactyly 30
649 c INT274 Intermediate Congenital Nemaline Myopathy 30
650 MSC021 Mosaic Trisomy 9 30
651 MTH047 Methanol Poisoning 30
652 GBR007 Gabriele-De Vries Syndrome 30
653 c SCH053 Schizophrenia 13 30
654 c CRN215 Cornelia De Lange Syndrome 4 30
655 c CNG562 Congenital Hypogonadotropic Hypogonadism 30
656 PRP038 Properdin Deficiency, X-Linked 30
657 AML065 Amelia 30
658 LMB010 Lambert Syndrome 30
659 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 30
660 SLR005 Solar Urticaria 30
661 P DVL012 Developmental Dysplasia of the Hip 1 30
662 INN003 Iniencephaly 30
663 MYP064 Myopericytoma 30
664 RSP007 Respiratory Distress Syndrome, Infant 30
665 P MTR051 Maternal Uniparental Disomy of Chromosome 1 30
666 c RTN178 Retinitis Pigmentosa 72 30
667 c ACT047 Acute Endophthalmitis 30
668 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 30
669 CLC010 Calcifying Epithelial Odontogenic Tumor 30
670 c GLP004 Geleophysic Dysplasia 2 30
671 P VTR008 Vitreoretinal Degeneration 30
672 c USH043 Usher Syndrome, Type Ih 30
673 GNT019 Giant Cell Myocarditis 30
674 ENG004 Engraftment Syndrome 30
675 c ERL002 Early Congenital Syphilis 29
676 RNG003 Ring Dermoid of Cornea 29
677 ACT228 Acute Radiation Syndrome 29
678 P NYS017 Nystagmus 1, Congenital, X-Linked 29
679 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 29
680 GRN033 Granulomatous Mastitis 29
681 CHR487 Chromosome 8q21.11 Deletion Syndrome 29
682 P ADL037 Adult Xanthogranuloma 29
683 HYM001 Hymenolepiasis 29
684 c RTN067 Retinitis Pigmentosa 41 29
685 c USH030 Usher Syndrome, Type Ik 29
686 MYC088 Mycobacterium Avium Complex Infections 29
687 CHR270 Chromosome 9p Duplication 29
688 c EPS014 Episodic Ataxia, Type 3 29
689 SPN340 Spontaneous Intracranial Hypotension 29
690 c WRD010 Waardenburg Syndrome Type 4 29
691 LPG001 Lipogranulomatosis 29
692 c CLR069 Ciliary Dyskinesia, Primary, 8 29
693 c ALC016 Alcohol Sensitivity, Acute 29
694 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 29
695 CLF049 Cleft Lip and Alveolus 29
696 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 29
697 c RTN160 Retinitis Pigmentosa 60 29
698 ART158 Arthrogryposis Multiplex Congenita, Myogenic Type 29
699 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 29
700 SCR024 Sacrococcygeal Teratoma 29
701 HYP808 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 29
702 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 29
703 c RTN149 Retinitis Pigmentosa 42 29
704 c CLR067 Ciliary Dyskinesia, Primary, 4 29
705 MYC019 Mycobacterium Marinum 29
706 c ERL003 Early Onset Absence Epilepsy 29
707 PTT063 Pattern Dystrophy 29
708 CRN051 Craniofacial Microsomia 29
709 WLL012 Williams-Beuren Region Duplication Syndrome 29
710 TRP020 Tropical Endomyocardial Fibrosis 29
711 c MCL030 Macular Degeneration, Age-Related, 10 29
712 TTR023 Tetraamelia-Multiple Malformations Syndrome 29
713 c ORF027 Orofacial Cleft 11 29
714 PST092 Posttransplant Acute Limbic Encephalitis 29
715 c TYP010 Type C Thymoma 28
716 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 28
717 c LCL005 Localized Chondrosarcoma 28
718 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
719 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 28
720 MCR302 Macrostomia, Isolated 28
721 c PLM128 Pulmonary Hypertension, Primary, 2 28
722 ACD011 Acid Phosphatase Deficiency 28
723 c RNG022 Ring Chromosome 6 28
724 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28
725 ACR099 Acrofacial Dysostosis, Catania Type 28
726 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 28
727 ANG050 Angiocentric Glioma 28
728 ERY066 Erythema Multiforme Major 28
729 c BNG012 Benign Mesenchymoma 28
730 P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 28
731 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 28
732 PTT016 Patterson Pseudoleprechaunism Syndrome 28
733 CLB009 Coloboma of Iris 28
734 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 28
735 c HYP528 Hypotrichosis 11 28
736 GLT028 Glutaric Aciduria Iii 28
737 LYS029 Lysosomal Disease 28
738 c INF019 Infectious Anterior Uveitis 28
739 16Q001 16q24.3 Microdeletion Syndrome 28
740 ATH004 Athetosis 28
741 c RTN116 Retinitis Pigmentosa 56 28
742 c PRX048 Peroxisome Biogenesis Disorder 10a 28
743 LRY026 Laryngeal Cleft 28
744 P RTS001 Ritscher-Schinzel Syndrome 28
745 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
746 c PRT063 Proteus-Like Syndrome 28
747 CHR229 Chromosome 20p Duplication 28
748 c PLM121 Pulmonary Hypertension, Primary, 4 28
749 CNG065 Congenital Contractures 28
750 PDT027 Pediatric Ulcerative Colitis 28
751 ARG004 Argyria 28
752 END051 Endolymphatic Sac Tumor 28
753 PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 28
754 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 27
755 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
756 TRC038 Tracheobronchomegaly 27
757 HRY005 Hairy Elbows 27
758 KLB004 Klebsiella Infection 27
759 c RTN190 Retinitis Pigmentosa 76 27
760 c RNG016 Ring Chromosome 20 27
761 MCR365 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 27
762 c ACQ043 Acquired Lipodystrophy 27
763 LSN002 Loose Anagen Hair Syndrome 27
764 CYC002 Cyclosporiasis 27
765 KCN010 Kcnq2-Related Disorders 27
766 PRM050 Primary Orthostatic Tremor 27
767 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 27
768 HYP644 Hypocalcified Amelogenesis Imperfecta 27
769 CTR027 Cataract-Glaucoma 27
770 XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 27
771 P MYM016 Moyamoya Angiopathy 27
772 HMN001 Human Monocytic Ehrlichiosis 27
773 c FRN032 Frontonasal Dysplasia 3 27
774 PTN004 Patent Ductus Venosus 27
775 CBB002 Cobb Syndrome 27
776 PLS031 Plastic Bronchitis 27
777 P PPL023 Pupil Disease 27
778 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 27
779 QLT008 Qualitative or Quantitative Defects of Dysferlin 27
780 KYS001 Kyasanur Forest Disease 27
781 ART030 Aortic Arch Interruption 27
782 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 27
783 CYT018 Cytochrome P450 2d6 Variant 27
784 CHR393 Chromosome 19p13.13 Deletion Syndrome 27
785 c ANM033 Anemia, Sideroblastic, 2, Pyridoxine-Refractory 27
786 NRL008 Neural Crest Tumor 27
787 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 27
788 FGS002 Fg Syndrome 2 27
789 PTY007 Pityriasis Rotunda 27
790 c CTR158 Cataract 37 27
791 CHR265 Chromosome 8p Duplication 27
792 c RTN068 Retinitis Pigmentosa 6 27
793 THR032 Thoracolaryngopelvic Dysplasia 27
794 c RTN065 Retinitis Pigmentosa 36 27
795 P ACR093 Acrofrontofacionasal Dysostosis 27
796 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
797 c ERL012 Early-Onset Glaucoma 27
798 c CHR565 Chromosomal Deletion Syndrome 27
799 HMC001 Homocarnosinosis 27
800 PSD026 Pseudoainhum 27
801 DFC001 Defective Apolipoprotein B-100 27
802 MLD011 Mild Hyperphenylalaninemia 27
803 UNL005 Unilateral Polymicrogyria 27
804 CRL001 Cerulean Cataract 27
805 c RTN213 Retinitis Pigmentosa 80 27
806 RFR007 Refractory Anemia with Excess Blasts in Transformation 27
807 CMB071 Combined Oxidative Phosphorylation Deficiency 27 27
808 LPD001 Lipid Pneumonia 27
809 MST020 Mast Cell Activation Syndrome 27
810 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 27
811 HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 27
812 CRT028 Cor Triatriatum 27
813 P CRY006 Cryofibrinogenemia 26
814 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 26
815 P SPS012 Spastic Paraplegia 3a 26
816 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 26
817 c RTN169 Retinitis Pigmentosa 70 26
818 BNG077 Benign Idiopathic Neonatal Seizures 26
819 c HRD186 Hereditary Spastic Paraplegia 51 26
820 c MLG036 Malignant Spiradenoma 26
821 c LNG052 Long Qt Syndrome 8 26
822 CMB015 Combined Oxidative Phosphorylation Deficiency 4 26
823 SRN002 Sirenomelia 26
824 IGP001 Iga Pemphigus 26
825 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26
826 MYC018 Mycobacterium Malmoense 26
827 NCR001 Necrotizing Ulcerative Gingivitis 26
828 THY098 Thyroid Ectopia 26
829 2MN001 2-Aminoadipic 2-Oxoadipic Aciduria 26
830 c DMN024 Diamond-Blackfan Anemia 7 26
831 c HML035 Hemolytic Uremic Syndrome, Atypical 2 26
832 CHR209 Chromosome 17p Duplication 26
833 GMM011 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to 26
834 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 26
835 ACT094 Acute Articular Rheumatism 26
836 PRT085 Peritoneal Cystic Mesothelioma 26
837 STR093 Striatonigral Degeneration, Childhood-Onset 26
838 c TRC071 Treacher Collins Syndrome 3 26
839 PTY004 Pityriasis Lichenoides 26
840 PRX086 Paroxysmal Exertion-Induced Dyskinesia 26
841 c CTR111 Cataract 36 26
842 CHR248 Chromosome 4p Duplication 26
843 c BSL030 Basal Encephalocele 26
844 CTR014 Cataract Microcornea Syndrome 26
845 c CLR104 Ciliary Dyskinesia, Primary, 15 26
846 ASB003 Asbestos Intoxication 26
847 HML052 Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency 26
848 c ADL080 Adult Acute Respiratory Distress Syndrome 26
849 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
850 c LPR007 Leopard Syndrome 3 26
851 c PRK098 Parkinson Disease 5, Autosomal Dominant 26
852 CRN042 Carnosinemia 26
853 ATS301 Autosomal Dominant Epilepsy with Auditory Features 26
854 CMP035 Complete Atrioventricular Canal 26
855 c CLR053 Ciliary Dyskinesia, Primary, 11 26
856 AML011 Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 26
857 c ATS370 Autism 3 26
858 HRD037 Hardikar Syndrome 26
859 c DMN019 Diamond-Blackfan Anemia 4 26
860 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 26
861 CRY010 Cryptophthalmos 25
862 THY042 Thymic Epithelial Tumor 25
863 FBR085 Fibrillary Glomerulonephritis 25
864 c MYP098 Myopathy, Centronuclear, 4 25
865 c CLR097 Ciliary Dyskinesia, Primary, 23 25
866 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
867 IRN007 Irinotecan Toxicity 25
868 c JBR040 Joubert Syndrome 30 25
869 MYC021 Mycobacterium Xenopi 25
870 HSB001 His Bundle Tachycardia 25
871 CHR212 Chromosome 18p Duplication 25
872 NKJ001 Nakajo Syndrome 25
873 c RTN063 Retinitis Pigmentosa 34 25
874 MTH040 Methylmalonyl-Coa Epimerase Deficiency 25
875 INV018 Invasive Mole 25
876 CMB048 Combined Oxidative Phosphorylation Deficiency 15 25
877 PRQ002 Paraquat Poisoning 25
878 c BRD051 Bardet-Biedl Syndrome 20 25
879 c CLR125 Ciliary Dyskinesia, Primary, 33 25
880 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 25
881 ESN022 Eosinophilic Colitis 25
882 GRD004 Gardner-Diamond Syndrome 25
883 URD002 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to 25
884 WLD006 Wild Type Abeta2m Amyloidosis 25
885 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 25
886 c INF018 Inflammatory Liposarcoma 25
887 DRM043 Dermochondrocorneal Dystrophy 25
888 DVL022 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 25
889 HRP008 Herpes Simiae 25
890 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 25
891 PSD030 Pseudodiastrophic Dysplasia 25
892 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25
893 PLM061 Pulmonary Edema of Mountaineers 25
894 GNT043 Genitopalatocardiac Syndrome 25
895 CHR252 Chromosome 5p Duplication 25
896 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 25
897 c CFF013 Coffin-Siris Syndrome 8 25
898 CHR167 Chorioretinal Atrophy, Progressive Bifocal 25
899 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
900 c EPL154 Epilepsy, Progressive Myoclonic, 9 25
901 BRT037 Brittle Diabetes 25
902 TTR027 Tetrasomy 15q26 25
903 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
904 c CRN280 Cornea Plana 2, Autosomal Recessive 25
905 CNG506 Congenital Amyoplasia 25
906 CMB091 Combined Oxidative Phosphorylation Deficiency 39 25
907 NNT021 Neonatal Meningitis 25
908 c DRR021 Diarrhea 11, Malabsorptive, Congenital 25
909 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
910 c PRM089 Premature Ovarian Failure 3 25
911 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
912 c ATR067 Atrioventricular Septal Defect 4 25
913 MYC001 Myoclonic Cerebellar Dyssynergia 25
914 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
915 MDL024 Madelung Deformity 25
916 c PSR025 Psoriasis 4 25
917 c FNC061 Fanconi Anemia, Complementation Group W 25
918 c D2H003 D-2-Hydroxyglutaric Aciduria 2 25
919 OBS895 Obsolete: Rapidly Progressive Glomerulonephritis 24
920 GRH005 Graham-Little-Piccardi-Lassueur Syndrome 24
921 c CNR027 Cone-Rod Dystrophy 17 24
922 SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 24
923 c PLY141 Polycystic Kidney Disease 5 24
924 PLY110 Polymicrogyria, Bilateral Temporooccipital 24
925 c CLR117 Ciliary Dyskinesia, Primary, 32 24
926 c MNS008 Monosomy 21 24
927 c FRS016 Fraser Syndrome 2 24
928 CTN016 Cutaneous Larva Migrans 24
929 MRN005 Marie Unna Congenital Hypotrichosis 24
930 FNC050 Functioning Gonadotropic Adenoma 24
931 STR029 Sternal Cleft 24
932 c ATM067 Autoimmune Polyendocrinopathy Type 3 24
933 SRP002 Serpiginous Choroiditis 24
934 c ALP099 Alopecia, Congenital 24
935 P KRT014 Keratosis Follicularis Spinulosa Decalvans 24
936 HYP213 Hypomelanotic Disorder 24
937 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
938 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 24
939 ADD006 Adducted Thumbs Syndrome 24
940 c ORF028 Orofacial Cleft 10 24
941 RCK003 Rickettsialpox 24
942 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
943 P UNP013 Uniparental Disomy of Chromosome 1 24
944 ERY023 Erythroplakia 24
945 P PPL026 Papular Mucinosis 24
946 HMP028 Hemophagocytic Syndrome Associated with an Infection 24
947 c SCK037 Seckel Syndrome 9 24
948 P MTC140 Mitochondrial Dna Maintenance Defects 24
949 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
950 c CLR098 Ciliary Dyskinesia, Primary, 27 24
951 CNG418 Congenital Intrauterine Infection-Like Syndrome 24
952 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 24
953 c SNR004 Senior-Loken Syndrome 4 24
954 UND004 Undetermined Colitis 24
955 c WLL018 Woolly Hair, Autosomal Dominant 24
956 c INF082 Inflammatory Bowel Disease 23 24
957 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 24
958 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 24
959 c PRR022 Perrault Syndrome 2 24
960 c ANT010 Anterior Compartment Syndrome 24
961 MYP114 Myopathy, Scapulohumeroperoneal 24
962 c LPR011 Leopard Syndrome 2 24
963 c CLR099 Ciliary Dyskinesia, Primary, 16 24
964 BCR002 Bicornuate Uterus 24
965 c ACR105 Acrofrontofacionasal Dysostosis 2 24
966 ACT120 Acute Zonal Occult Outer Retinopathy 24
967 CHR159 Charlie M Syndrome 24
968 c VNT026 Ventricular Septal Defect 2 24
969 c INF185 Infantile Epilepsy Syndrome 24
970 DRG016 Drug Induced Dyskinesia 24
971 HYP181 Hypertrichosis Lanuginosa, Acquired 24
972 HRN018 Hearing Loss, Cisplatin-Induced 24
973 c ATS438 Autosomal Recessive Spastic Ataxia 24
974 c WSK002 Wiskott-Aldrich Syndrome 2 24
975 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 24
976 c JVN047 Juvenile Spondyloarthropathy 24
977 c ORF047 Orofacial Cleft 15 24
978 ART037 Arthrogryposis and Ectodermal Dysplasia 24
979 c LTH032 Lethal Congenital Contracture Syndrome 7 24
980 FBR023 Fibrinogen Deficiency, Congenital 24
981 c MYM004 Moyamoya Disease 2 24
982 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 24
983 KR001 Koro 24
984 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 24
985 c ATS365 Autism X-Linked 1 24
986 c DYS138 Dystonia 21 24
987 CYN003 Cyanide Poisoning 24
988 NNT018 Neonatal Herpes 24
989 LLS001 Lelis Syndrome 24
990 c LTH029 Lethal Congenital Contracture Syndrome 9 24
991 JMP002 Jumping Frenchmen of Maine 24
992 BRN129 Branchial Cleft Anomalies 24
993 ELC001 Elective Mutism 23
994 TRG006 Trigger Thumb 23
995 INT095 Internal Carotid Agenesis 23
996 HYP144 Hyperacusis 23
997 c ANX008 Anauxetic Dysplasia 2 23
998 c SYS038 Systemic Lupus Erythematosus 2 23
999 P STR035 Streptococcal Group a Invasive Disease 23
1000 CLC053 Colchicine Poisoning 23
1001 c HML037 Hemolytic Uremic Syndrome, Atypical 5 23
1002 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
1003 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 23
1004 c ACR103 Acrofrontofacionasal Dysostosis 1 23
1005 CMB013 Combined Oxidative Phosphorylation Deficiency 2 23
1006 DSM006 Desmoplastic Infantile Ganglioglioma 23
1007 OBS635 Obsolete: Laryngeal Dyskinesia 23
1008 CMB065 Combined Oxidative Phosphorylation Deficiency 26 23
1009 PTR034 Paternal Uniparental Disomy 23
1010 MNR004 Mounier-Kuhn Syndrome 23
1011 BLP009 Blepharonasofacial Malformation Syndrome 23
1012 CMP041 Complement Factor D Deficiency 23
1013 SDD004 Sudden Arrhythmia Death Syndrome 23
1014 CLC064 Calcifying Aponeurotic Fibroma 23
1015 HRP011 Herpes Zoster Ophthalmicus 23
1016 P MCL035 Macular Dystrophy, Retinal, 2 23
1017 c SPN323 Spinocerebellar Ataxia 41 23
1018 SNC001 Sunct Headache 23
1019 LPY002 Lipoyltransferase 1 Deficiency 23
1020 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 23
1021 c SYN088 Synpolydactyly 2 23
1022 NCL007 Nuclear Gene-Encoded Leigh Syndrome 23
1023 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
1024 EXR007 Exercise-Induced Anaphylaxis 23
1025 c MCR228 Microphthalmia, Syndromic 13 23
1026 c RTN061 Retinitis Pigmentosa 32 23
1027 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 23
1028 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
1029 c DMN005 Diamond-Blackfan Anemia 2 23
1030 TRC037 Tracheobronchomalacia 23
1031 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
1032 HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 23
1033 LCT017 Lactate Dehydrogenase B Deficiency 23
1034 RTR012 Retroperitoneal Liposarcoma 23
1035 c EXD007 Exudative Vitreoretinopathy 3 23
1036 CMB076 Combined Oxidative Phosphorylation Deficiency 31 23
1037 c GNR020 Gne-Related Myopathy 23
1038 c MCL051 Macular Degeneration, Age-Related, 12 23
1039 c PRM192 Premature Ovarian Failure 8 23
1040 FCC002 Faciocardiorenal Syndrome 23
1041 KYR001 Kyrle Disease 23
1042 c STC012 Stickler Syndrome, Type Iv 23
1043 STR007 Stress Polycythemia 23
1044 HGH021 Hughes-Stovin Syndrome 23
1045 GLC001 Glaucomatocyclitic Crisis 23
1046 VBR003 Vibrio Vulnificus Infection 23
1047 c DMN029 Diamond-Blackfan Anemia 11 23
1048 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 23
1049 P MCL058 Macular Degeneration, Early-Onset 23
1050 DPS001 Dipsogenic Diabetes Insipidus 23
1051 CNG092 Congenital Extrahepatic Portosystemic Shunt 23
1052 ULC008 Ulcerative Proctitis 23
1053 TTR019 Tetrasomy 5p 23
1054 KRT020 Keratoconus Posticus Circumscriptus 23
1055 c LPR023 Leprosy 1 23
1056 c CLR101 Ciliary Dyskinesia, Primary, 25 23
1057 c ASP032 Asperger Syndrome 1 23
1058 c CTR165 Cataract 19, Multiple Types 23
1059 CRS011 Criss-Cross Heart 23
1060 c INF073 Inflammatory Bowel Disease 12 23
1061 c CLR138 Ciliary Dyskinesia, Primary, 38 23
1062 DBL004 Double Discordia 23
1063 c CTR110 Cataract 26, Multiple Types 23
1064 CHR208 Chromosome 17p Deletion 23
1065 DMD001 Demodicidosis 23
1066 c MLT093 Multiple Sclerosis 2 23
1067 ERY043 Euryblepharon 23
1068 P RTN220 Retinal Ciliopathy 23
1069 P HYD015 Hydroa Vacciniforme 23
1070 c EXD010 Exudative Vitreoretinopathy 6 23
1071 P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 22
1072 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 22
1073 PST040 Posterior Column Ataxia 22
1074 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
1075 P PLM064 Pulmonary Sequestration 22
1076 8P2002 8p23.1 Duplication Syndrome 22
1077 INT093 Interferon Gamma, Receptor 1, Deficiency 22
1078 c RDC016 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 22
1079 c GLL042 Galloway-Mowat Syndrome 5 22
1080 c CRB209 Cerebellar Malformation 22
1081 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 22
1082 PLS037 Plasma Cell Tumor 22
1083 DPR014 Diprosopus 22
1084 ART109 Arterial Thoracic Outlet Syndrome 22
1085 PLR024 Pilarowski-Bjornsson Syndrome 22
1086 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 22
1087 PSD043 Pseudopelade of Brocq 22
1088 MTC115 Mitochondrial Myopathy, Lethal, Infantile 22
1089 EXF002 Exfoliative Ichthyosis 22
1090 c TRC099 Trichothiodystrophy 2, Photosensitive 22
1091 OBS168 Obsolete: Atypical Teratoid/rhabdoid Tumor 22
1092 HVY002 Heavy Metal Poisoning 22
1093 CHR247 Chromosome 4p Deletion 22
1094 ORF053 Orofacial Clefting Syndrome 22
1095 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 22
1096 c PRG137 Paragangliomas 6 22
1097 c ICH014 Ichthyosis Lamellar 1 22
1098 PST047 Post-Traumatic Epilepsy 22
1099 c UVS003 Uv-Sensitive Syndrome 3 22
1100 ADS015 Aids Wasting Syndrome 22
1101 c NNT025 Neonatal Systemic Lupus Erythematosus 22
1102 c ATS369 Autism 8 22
1103 c TYP029 Type 1 Diabetes Mellitus 3 22
1104 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1105 XLN179 X-Linked Intellectual Disability, Turner Type 22
1106 AND005 Androgen Insensitivity Syndrome, Mild 22
1107 P RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 22
1108 c CFF015 Coffin-Siris Syndrome 10 22
1109 OBS507 Obsolete: Small Pox 22
1110 c ATS378 Autism 17 22
1111 DYS038 Dysgnathia Complex 22
1112 ACR107 Acrofacial Dysostosis, Palagonia Type 22
1113 c SCH086 Schizophrenia 11 22
1114 FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 22
1115 MXD035 Mixed-Type Autoimmune Hemolytic Anemia 22
1116 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 22
1117 PLL009 Pellucid Marginal Degeneration 22
1118 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1119 OBS529 Obsolete: Combined Hyperlipidemia 22
1120 CCN009 Cocaine Intoxication 22
1121 LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 22
1122 RFS003 Refsum Disease, Infantile Form 22
1123 c CTR184 Cataract 39, Multiple Types 22
1124 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 22
1125 c FBR079 Fibromatosis, Gingival, 2 22
1126 NWD001 New Daily-Persistent Headache 22
1127 HTR005 Heterochromia Iridis 22
1128 c ATM066 Autoimmune Polyendocrinopathy Type 4 22
1129 c CCK004 Cockayne Syndrome Type Iii 22
1130 HML018 Homologous Wasting Disease 22
1131 c SNR011 Senior-Loken Syndrome 3 22
1132 6QT002 6q Terminal Deletion Syndrome 21
1133 c LTH026 Lethal Congenital Contracture Syndrome 4 21
1134 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1135 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
1136 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1137 c HYP832 Hypotrichosis 14 21
1138 c SYS040 Systemic Lupus Erythematosus 10 21
1139 GRW021 Growing Teratoma Syndrome 21
1140 c MLG150 Malignant Hyperthermia 4 21
1141 MYC016 Mycobacterium Gordonae 21
1142 MCL047 Macular Amyloidosis 21
1143 LMB009 Lambdoid Synostosis 21
1144 MSL005 Mseleni Joint Disease 21
1145 c SCN048 Secondary Syringomyelia 21
1146 c PSR027 Psoriasis 6 21
1147 c SYS046 Systemic Lupus Erythematosus 3 21
1148 SLN006 Silent Sinus Syndrome 21
1149 SPS006 Spastic Monoplegia 21
1150 ETH012 Ethylene Glycol Poisoning 21
1151 URT052 Urticaria, Aquagenic 21
1152 c SBC010 Subacute Glomerulonephritis 21
1153 SPS087 Spasmus Nutans 21
1154 STR033 Storm Syndrome 21
1155 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
1156 NWN001 New-Onset Refractory Status Epilepticus 21
1157 c RTN196 Retinitis Pigmentosa 78 21
1158 c ADL084 Adult-Onset Myasthenia Gravis 21
1159 c OVR119 Ovarian Dysgenesis 7 21
1160 OBS097 Obsolete: Heinz Body Anemia 21
1161 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1162 CGH002 Cough Headache 21
1163 STP007 Staphylococcal Scarlet Fever 21
1164 MYP060 Myopic Macular Degeneration 21
1165 ATR052 Atrophic Lichen Planus 21
1166 c CLL018 Collagen Type Vi-Related Disorders 21
1167 P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 21
1168 c PRM295 Premature Ovarian Failure 15 21
1169 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 21
1170 c FRM002 Form Agnosia 21
1171 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 21
1172 BNT001 Banti's Syndrome 21
1173 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
1174 c CLR054 Ciliary Dyskinesia, Primary, 12 21
1175 DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 21
1176 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1177 c ATS209 Autosomal Dominant Secondary Polycythemia 21
1178 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1179 GLC025 Galactorrhoea-Hyperprolactinaemia 21
1180 PRN068 Paraneoplastic Limbic Encephalitis 21
1181 LPS019 Lupus Erythematosus Tumidus 21
1182 c PNM004 Pneumoconiosis Due to Talc 21
1183 c DMN028 Diamond-Blackfan Anemia 12 21
1184 CGT001 Ciguatera Fish Poisoning 21
1185 BLL015 Bullous Lichen Planus 21
1186 MRF007 Marfanoid Hypermobility Syndrome 21
1187 PLY039 Polymorphic Reticulosis 21
1188 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1189 EPS038 Episodic Angioedema with Eosinophilia 21
1190 MTR027 Mitral Atresia 21
1191 ORB019 Orbital Margin, Hypoplasia of 21
1192 c PRM253 Premature Ovarian Failure 13 21
1193 c AML059 Amelogenesis Imperfecta, Type Ij 21
1194 c MTH083 Methemoglobinemia, Beta Type 21
1195 NDD001 Nodding Syndrome 21
1196 c TYP034 Type 1 Diabetes Mellitus 8 21
1197 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 21
1198 UNL013 Unilateral Absence of a Pulmonary Artery 21
1199 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 21
1200 c ANT087 Anterior Segment Dysgenesis 6 21
1201 SCD003 Scedosporiosis 21
1202 c MLG080 Malignant Secondary Hypertension 21
1203 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 21
1204 ACH039 Achalasia-Microcephaly Syndrome 20
1205 SYN120 Syndromic Oculocutaneous Albinism 20
1206 P STR111 Stromal Corneal Dystrophy 20
1207 CYT017 Cytophagic Histiocytic Panniculitis 20
1208 QLT002 Qualitative or Quantitative Defects of Dystrophin 20
1209 TRH001 Trehalase Deficiency 20
1210 c TYP033 Type 1 Diabetes Mellitus 7 20
1211 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 20
1212 CRY024 Crystal Arthropathies 20
1213 c HYP578 Hypotrichosis 12 20
1214 MRZ001 Mirizzi Syndrome 20
1215 HRR005 Harrod Syndrome 20
1216 CMP017 Camptocormism 20
1217 c NRC017 Narcolepsy 7 20
1218 FBR091 Fibroblastic Rheumatism 20
1219 c PSR031 Psoriasis 10 20
1220 RCK009 Rickettsial Disease 20
1221 PSD084 Pseudo-Meigs Syndrome 20
1222 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 20
1223 XQ2003 Xq25 Duplication Syndrome 20
1224 PRM157 Primary Progressive Freezing Gait 20
1225 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
1226 CMB051 Combined Oxidative Phosphorylation Deficiency 21 20
1227 ISL082 Isolated Atp Synthase Deficiency 20
1228 DPL007 Duplication of Urethra 20
1229 ISL084 Isolated Trigonocephaly 20
1230 HST018 Histiocytosis, Progressive Mucinous 20
1231 c MYP040 Myopia 7 20
1232 c ORF014 Orofacial Cleft 5 20
1233 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
1234 DST011 Distal Chromosome 18q Deletion Syndrome 20
1235 ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 20
1236 ITR001 Iatrogenic Botulism 20
1237 c CTR159 Cataract 35 20
1238 MTT004 Metatarsus Adductus 20
1239 c PLY176 Polycystic Kidney Disease 4 20
1240 QDR002 Quadricuspid Aortic Valve 20
1241 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
1242 c BRC105 Brachydactyly, Type A1, D 20
1243 CLF021 Cleft Palate X-Linked 20
1244 OBS873 Obsolete: Ito Hypomelanosis 20
1245 c ANM034 Anemia, Sideroblastic, 4 20
1246 FCC003 Faciocardiomelic Dysplasia, Lethal 20
1247 DSS012 Disseminated Infection with Mycobacterium Avium Complex 20
1248 P CHR200 Chromosome 16 Trisomy 20
1249 c TYP040 Type 1 Diabetes Mellitus 18 20
1250 FMR013 Femoral Agenesis/hypoplasia 20
1251 MDS024 Mediastinal Endodermal Sinus Tumors 20
1252 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
1253 HPS001 Hip Subluxation 20
1254 c LTY001 Late Yaws 20
1255 ALP088 Alpha-Fetoprotein, Hereditary Persistence of 20
1256 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 20
1257 XLN240 X-Linked Otopalatodigital Spectrum Disorders 20
1258 BNG086 Bangstad Syndrome 20
1259 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 20
1260 HRP026 Herpetiform Pemphigus 20
1261 MLG087 Malignant Cylindroma 20
1262 NND001 Nondystrophic Myotonia 20
1263 TLN013 Telangiectasia Macularis Eruptive Perstans 20
1264 c HYD071 Hydrocephalus, Normal-Pressure, 1 20
1265 PYT001 Pythiosis 20
1266 ULN014 Ulnar Hemimelia 20
1267 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 20
1268 EXT063 Extrapelvic Endometriosis 20
1269 THN005 Thunderclap Headache 19
1270 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 19
1271 TBT001 Tabatznik Syndrome 19
1272 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
1273 MCR330 Microphthalmia, Isolated, with Cataract 1 19
1274 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 19
1275 MSC017 Mosaic Trisomy 22 19
1276 c PNT053 Pontocerebellar Hypoplasia, Type 13 19
1277 BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 19
1278 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 19
1279 PSD079 Pseudoangiomatous Stromal Hyperplasia 19
1280 16P002 16p11.2 Deletion Syndrome 19
1281 c CHR227 Chromosome 20 Trisomy 19
1282 VGN031 Vaginal Atresia 19
1283 CHR612 Chromosome 15q14 Deletion Syndrome 19
1284 c CNT094 Cantú Syndrome and Related Disorders 19
1285 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 19
1286 DST036 Distal Trisomy 15q 19
1287 FRN028 Furunculous Myiasis 19
1288 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 19
1289 PRP107 Peripheral Hypothyroidism 19
1290 c INF047 Infantile Free Sialic Acid Storage Disease 19
1291 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 19
1292 PTY005 Pityriasis Lichenoides Chronica 19
1293 P CNG515 Congenital Zika Syndrome 19
1294 DHY008 Dihydroxyadeninuria 19
1295 c WLL035 Woolly Hair, Autosomal Recessive 3 19
1296 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 19
1297 c 46X046 46,xy Sex Reversal 4 19
1298 GLC039 Glucosephosphate Isomerase Deficiency 19
1299 XLN215 X-Linked Congenital Generalized Hypertrichosis 19
1300 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
1301 CHR182 Chromosome 10p Duplication 19
1302 BDR001 Bidirectional Tachycardia 19
1303 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 19
1304 LNR010 Linear Lichen Planus 19
1305 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
1306 19P001 19p13.12 Microdeletion Syndrome 19
1307 CHR567 Chromosome 5q12 Deletion Syndrome 19
1308 KRT077 Keratinopathic Ichthyosis 19
1309 c RTN214 Retinitis Pigmentosa 81 19
1310 c DYS058 Dystonia 15, Myoclonic 19
1311 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1312 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
1313 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1314 PHC015 Phacoanaphylactic Uveitis 19
1315 BRH001 Boerhaave Syndrome 19
1316 1Q4001 1q44 Microdeletion Syndrome 19
1317 c TYP039 Type 1 Diabetes Mellitus 17 19
1318 c MYP141 Myopia 5, Autosomal Dominant 19
1319 TRN067 Transcobalamin I Deficiency 19
1320 EGL001 Eagle Syndrome 19
1321 ISN001 Isoniazid Toxicity 19
1322 LGR001 Laugier-Hunziker Syndrome 19
1323 c PRM209 Primary Trimethylaminuria 19
1324 AML012 Ameloonychohypohidrotic Syndrome 19
1325 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1326 OCL057 Oculotrichodysplasia 19
1327 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 19
1328 c DMN047 Diamond-Blackfan Anemia 18 19
1329 EPG004 Epignathus 19
1330 DST045 Distal Trisomy 6p 19
1331 SMC003 Semicircular Canal Dehiscence Syndrome 19
1332 CHL084 Cholesterol Pneumonia 19
1333 P CNG070 Congenital Dislocation of the Patella 19
1334 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
1335 AMY010 Amyloidosis Beta2m 19
1336 LWF001 Low-Flow Priapism 19
1337 c PSR022 Psoriasis 15, Pustular 19
1338 LVT001 Levator Syndrome 19
1339 HMF007 Hemifacial Hyperplasia with Strabismus 18
1340 c DMN040 Diamond-Blackfan Anemia 16 18
1341 EXT061 Extracardiac Rhabdomyoma 18
1342 IQS001 Iqsec2 18
1343 SPR064 Supernumerary Breasts 18
1344 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
1345 PRM331 Primary Hypophysitis 18
1346 CYT006 Cytoplasmic Body Myopathy 18
1347 c INF081 Inflammatory Bowel Disease 22 18
1348 LMB056 Lumbosacral Spina Bifida Cystica 18
1349 HSH001 Hashimoto-Pritzker Syndrome 18
1350 SCL051 Scalp Defects and Postaxial Polydactyly 18
1351 c MCR108 Microphthalmia, Isolated 7 18
1352 OBS385 Obsolete: Postaxial Polydactyly of Fingers 18
1353 OTN001 Otoonychoperoneal Syndrome 18
1354 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 18
1355 17Q009 17q12 Recurrent Deletion Syndrome 18
1356 PPL053 Papillomatosis, Florid, of Nipple 18
1357 RDR002 Rodrigues Blindness 18
1358 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 18
1359 THM005 Thumb Deformity 18
1360 CTN031 Cutaneous Pseudolymphoma 18
1361 MSM018 Mesomelic Limb Shortening and Bowing 18
1362 MSC081 Mosaic Trisomy 15 18
1363 TRT005 Teratoma with Malignant Transformation 18
1364 PRS119 Persistent Genital Arousal Disorder 18
1365 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1366 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 18
1367 c PRG138 Paragangliomas 7 18
1368 LCT008 Lactate Dehydrogenase Deficiency 18
1369 DYT005 Dyt-Thap1 18
1370 MLT131 Multifocal Atrial Tachycardia 18
1371 INH017 Inherited Congenital Spastic Tetraplegia 18
1372 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 18
1373 c PTS018 Ptosis, Hereditary Congenital 1 18
1374 CTM001 Catamenial Pneumothorax 18
1375 c SCL049 Scoliosis, Isolated 3 18
1376 MTH011 Methionine Adenosyltransferase Deficiency 18
1377 c MYP044 Myopia 10 18
1378 BMF002 Bamforth Syndrome 18
1379 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 18
1380 CNT088 Central Cloudy Dystrophy of Francois 18
1381 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1382 PPL038 Papular Xanthoma 18
1383 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
1384 c ERL044 Early-Onset Posterior Polar Cataract 18
1385 VLN001 Valinemia 18
1386 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 18
1387 c ORF050 Orofacial Cleft 2 18
1388 MYS028 Myospherulosis 18
1389 IDP047 Idiopathic Panuveitis 18
1390 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 18
1391 CRN224 Craniofaciofrontodigital Syndrome 18
1392 c NNN032 Non-Infectious Posterior Uveitis 18
1393 c HYP573 Hypotrichosis 5 18
1394 CNG108 Congenital Mitral Stenosis 18
1395 SWY003 Swyer-James Syndrome 18
1396 CLF047 Cleft-Limb-Heart Malformation Syndrome 18
1397 c INF084 Inflammatory Bowel Disease 26 18
1398 GLS013 Glossodynia 18
1399 QLT009 Qualitative or Quantitative Defects of Caveolin-3 18
1400 c CHR180 Chromosome 10, Uniparental Disomy 18
1401 ICH025 Ichthyosis, Follicular 18
1402 THR084 Thoracolumbosacral Spina Bifida Cystica 18
1403 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 18
1404 c CTR178 Cataract 27 18
1405 PHN012 Phenytoin or Carbamazepine Toxicity 18
1406 GLM036 Gliomatosis Peritonei 18
1407 c ORF049 Orofacial Cleft 3 17
1408 P HRD043 Hereditary Congenital Facial Paresis 17
1409 MYX011 Myxozoa 17
1410 P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 17
1411 SPR065 Supernumerary Nostril 17
1412 CTN020 Cutaneous Sclerosis 17
1413 GND015 Gonadal Germ Cell Tumor 17
1414 CCC003 Coccygodynia 17
1415 c GLC100 Glaucoma 1, Open Angle, D 17
1416 ANL019 Anal Sphincter Dysplasia 17
1417 CXR001 Coxoauricular Syndrome 17
1418 TRP010 Treponema Infection 17
1419 BRC096 Brachydactyly-Distal Symphalangism Syndrome 17
1420 c PSR030 Psoriasis 8 17
1421 RMT001 Remitting Seronegative Symmetrical Synovitis with Pitting Edema 17
1422 P ATS469 Autosomal Monosomy 17
1423 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 17
1424 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 17
1425 STN005 St Anthony's Fire 17
1426 CTN034 Cutaneous Myiasis 17
1427 c MYP144 Myopia 12, Autosomal Dominant 17
1428 WHT005 White Forelock with Malformations 17
1429 BNG078 Benign Paroxysmal Torticollis of Infancy 17
1430 c ALP040 Alopecia Areata 2 17
1431 INH013 Inhalational Botulism 17
1432 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 17
1433 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
1434 c ACQ039 Acquired Purpura Fulminans 17
1435 ZBR001 Zebra Body Myopathy 17
1436 MD1003 Med13l Haploinsufficiency Syndrome 17
1437 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
1438 CHR257 Chromosome 6q Deletion 17
1439 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 17
1440 3Q2006 3q27.3 Microdeletion Syndrome 17
1441 HYD049 Hydrocephalus with Cerebellar Agenesis 17
1442 BRZ001 Brazilian Hemorrhagic Fever 17
1443 BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 17
1444 CHR184 Chromosome 10q Duplication 17
1445 CRB203 Caribbean Parkinsonism 17
1446 PRX013 Proximal Chromosome 18q Deletion Syndrome 17
1447 OBS172 Obsolete: Solitary Median Maxillary Central Incisor Syndrome 17
1448 c MCH013 Machado-Joseph Disease Type 3 17
1449 HMR013 Hemorrhagic Proctocolitis 17
1450 c GLC104 Glaucoma 1, Open Angle, O 17
1451 c INF055 Infectious Myocarditis 17
1452 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1453 TYP044 Type 1 Interferonopathy 17
1454 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 17
1455 CLS032 Clostridium Perfringens Infection 17
1456 APD001 Apo a-I Deficiency 17
1457 c ATS172 Autism 10 17
1458 ORN004 Ornithinemia 17
1459 c SPS163 Spastic Ataxia 3 17
1460 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 17
1461 c MCH012 Machado-Joseph Disease Type 1 17
1462 PNT023 Pontine Hemorrhage 17
1463 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
1464 LMB071 Lambotte Syndrome 17
1465 ANT040 Anton's Syndrome 17
1466 P NDL017 Nodular Cutaneous Amyloidosis 17
1467 ANT063 Anti-P200 Pemphigoid 17
1468 c CHR665 Choroidal Dystrophy, Central Areolar, 3 17
1469 RDT004 Radiation Induced Brachial Plexopathy 17
1470 DST069 Distal Monosomy 12q 17
1471 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 17
1472 THY105 Thyrocerebroretinal Syndrome 17
1473 CRN287 Carnitine Deficiency, Myopathic 17
1474 RSM002 Rasmussen Johnsen Thomsen Syndrome 17
1475 PRP069 Purpura Simplex 17
1476 LJN002 Lujan Syndrome 17
1477 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
1478 DSM005 Desmoplastic Infantile Astrocytoma 17
1479 CND008 Condensing Osteitis of the Clavicle 17
1480 MSM003 Mesomelia 17
1481 c PST077 Posterior Meningocele 16
1482 14Q001 14q12 Microdeletion Syndrome 16
1483 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
1484 OBS199 Obsolete: Sakati-Nyhan Syndrome 16
1485 EXT050 Extraneural Perineurioma 16
1486 KMM002 Kommerell Diverticulum 16
1487 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 16
1488 CRN308 Coronary Arterial Fistula 16
1489 c OTS006 Otosclerosis 2 16
1490 ALN006 Alien Hand Syndrome 16
1491 EMR002 Emerinopathy 16
1492 BSC003 Buschke Lowenstein Tumor 16
1493 PLM065 Pulmonary Supravalvular Stenosis 16
1494 SYN149 Syndromic Rod-Cone Dystrophy 16
1495 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1496 c UNC018 Uncombable Hair Syndrome 3 16
1497 c UNP011 Uniparental Disomy of Chromosome 14 16
1498 EPL161 Epilepsy, Reading 16
1499 c MCL026 Macular Dystrophy, Retinal, 3 16
1500 c HYP551 Hypotrichosis 9 16
1501 CHR250 Chromosome 4q Duplication 16
1502 3P2001 3p25.3 Microdeletion Syndrome 16
1503 TYS007 Tyshchenko Syndrome 16
1504 PRP068 Propriospinal Myoclonus 16
1505 THM025 Thumbs, Congenital Clasped 16
1506 RDC003 Red Cell Phospholipid Defect with Hemolysis 16
1507 c MYC086 Myoclonic Epilepsy, Juvenile 4 16
1508 SLT007 Solitary Rectal Ulcer Syndrome 16
1509 SYR004 Syringobulbia 16
1510 CLD006 Cleidorhizomelic Syndrome 16
1511 c ZMM004 Zimmermann-Laband Syndrome 3 16
1512 TRS010 Trisomy 17 Mosaicism 16
1513 c MYG006 Myoglobinuria, Autosomal Dominant 16
1514 GMB001 Gombo Syndrome 16
1515 49X005 49, Xxxyy Syndrome 16
1516 CLF034 Cleft Hard Palate 16
1517 GLC088 Glaucoma and Sleep Apnea 16
1518 FWL003 Fowler Urethral Sphincter Dysfunction Syndrome 16
1519 HYD055 Hydroxylysinuria 16
1520 LNG102 Long-Thumb Brachydactyly Syndrome 16
1521 CRV046 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 16
1522 ART091 Aorto-Ventricular Tunnel 16
1523 PRS110 Persistent Placoid Maculopathy 16
1524 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 16
1525 c PTS010 Ptosis, Hereditary Congenital 2 16
1526 c HYP544 Hypotrichosis 10 16
1527 HYP689 Hypomelia with Mullerian Duct Anomalies 16
1528 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1529 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 16
1530 c ATS373 Autism 11 16
1531 c TYS005 Tay-Sachs Disease, B1 Variant 16
1532 CMP077 Composite Hemangioendothelioma 16
1533 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 16
1534 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 16
1535 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
1536 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1537 ECT086 Ectrodactyly-Polydactyly 16
1538 CNG238 Congenital Panfollicular Nevus 16
1539 CLM004 Climatic Droplet Keratopathy 16
1540 ACT174 Acute Peripheral Arterial Occlusion 16
1541 LTH004 Lathyrism 16
1542 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 16
1543 KSH003 Kshv Inflammatory Cytokine Syndrome 16
1544 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1545 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 16
1546 GLM046 Glomus Vagale Tumor 16
1547 c MYP147 Myopia 19, Autosomal Dominant 16
1548 DDL001 Didelphys Uterus 16
1549 c CTR176 Cataract, Age-Related Nuclear 16
1550 CRT056 Carotidynia 16
1551 HYP727 Hypoglossia with Situs Inversus 16
1552 TRC120 Tricarboxylic Acid Cycle, Defect of 16
1553 c PRR032 Pura-Related Neurodevelopmental Disorders 16
1554 GRN020 Granulomatous Hypophysitis 16
1555 ATY025 Atypical Glycine Encephalopathy 16
1556 SPN120 Spondylocamptodactyly 16
1557 DYS053 Dystelephalangy 16
1558 DST035 Distal Trisomy 18q 16
1559 c ISC010 Isochromosome Yp 16
1560 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 16
1561 RCS010 Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome 16
1562 CHR220 Chromosome 1p Deletion 15
1563 WYR003 Weyers Ulnar Ray/oligodactyly Syndrome 15
1564 CHR264 Chromosome 8p Deletion 15
1565 PNS014 Penis Agenesis 15
1566 c OTS012 Otosclerosis 10 15
1567 ADN061 Adenosarcoma of the Cervix Uteri 15
1568 MSC086 Mesocardia 15
1569 GRN021 Granulomatous Rosacea 15
1570 LKT001 Leukotriene C4 Synthase Deficiency 15
1571 CHR238 Chromosome 2p Duplication 15
1572 CHS007 Chester Porphyria 15
1573 CHR244 Chromosome 3p Duplication 15
1574 OBS524 Obsolete: Benign Exophthalmos Syndrome 15
1575 TRP027 Triphalangeal Thumb, Nonopposable 15
1576 ERL040 Early-Onset Sutural Cataract 15
1577 ODN008 Odontomicronychial Dysplasia 15
1578 OVR073 Ovarian Remnant Syndrome 15
1579 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 15
1580 SPR145 Superficial Fibromatosis 15
1581 CHR272 Chromosome 9q Duplication 15
1582 SPS093 Spastic Diplegia Cerebral Palsy 15
1583 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 15
1584 CYL003 Cylindrical Spirals Myopathy 15
1585 SNK001 Snakebite Envenomation 15
1586 XLN223 X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability 15
1587 CTT001 Catatrichy 15
1588 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 15
1589 CHR263 Chromosome 7q Duplication 15
1590 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
1591 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 15
1592 TRM021 Tremor, Nystagmus, and Duodenal Ulcer 15
1593 16P008 16p11.2 Duplication 15
1594 BSL013 Basaloid Follicular Hamartoma 15
1595 PRX084 Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 15
1596 ERL037 Early-Onset Lamellar Cataract 15
1597 c ALP036 Alopecia, Androgenetic, 2 15
1598 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1599 CHR256 Chromosome 6p Duplication 15
1600 PRP033 Properdin Deficiency 15
1601 c MRR012 Mirror Movements 3 15
1602 NCT004 N Acetyltransferase Deficiency 15
1603 CHR188 Chromosome 11q Duplication 15
1604 INC023 Incisors, Fused Mandibular 15
1605 c RFR015 Refractory Anemia with Excess Blasts Type 1 15
1606 c KRT039 Keratoconus 2 15
1607 SHN001 Shone Complex 15
1608 PPL027 Papular Urticaria 15
1609 DST038 Distal Monosomy 7q36 15
1610 ADC008 Adactylia, Unilateral 15
1611 CHR199 Chromosome 15q Duplication 15
1612 c FBR077 Fibromatosis, Gingival, 3 15
1613 c FBR080 Fibromatosis, Gingival, 4 15
1614 OBS249 Obsolete: Papillary Fibroelastoma of the Heart 15
1615 APL029 Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 15
1616 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
1617 49X004 49,xyyyy Syndrome 15
1618 CHR261 Chromosome 7p Duplication 15
1619 OBS890 Obsolete: Adult Pulmonary Langerhans Cell Histiocytosis 15
1620 NSP010 Nasopharyngeal Teratoma 15
1621 ACH040 Achoo Syndrome 15
1622 CHR181 Chromosome 10p Deletion 15
1623 c OBS417 Obsolete: Brachydactyly of Toes 15
1624 ENC045 Encephalopathy, Recurrent, of Childhood 15
1625 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 15
1626 SBP005 Subpulmonary Stenosis 15
1627 CHR170 Choroid Plexus Cyst 15
1628 CNG120 Congenital Pseudoarthrosis 15
1629 TRP023 Triphalangeal Thumbs and Dislocation of Patella 15
1630 SBM006 Submucosal Cleft Palate 15
1631 c ESP034 Esophagitis, Eosinophilic, 2 15
1632 EXR004 Exertional Headache 15
1633 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 15
1634 c RRM002 Rrm2b-Related Mitochondrial Disease 15
1635 ARC024 Aurocephalosyndactyly 15
1636 CSK001 Cask-Related Disorders 15
1637 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 15
1638 c UNP008 Uniparental Disomy of Chromosome 15 15
1639 CNS012 Cono-Spondylar Dysplasia 15
1640 ACT215 Actg2-Related Disorders 15
1641 HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 15
1642 PLM062 Pulmonary Hyalinizing Granuloma 15
1643 P ISL029 Isolated Anorectal Malformation 15
1644 MYL019 Myeloid Splenomegaly 15
1645 HYP468 Hyperkeratosis-Hyperpigmentation Syndrome 15
1646 DBL009 Double Inferior Vena Cava 15
1647 ART027 Aorta-Pulmonary Artery Fistula 15
1648 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 15
1649 PRS132 Parasomnia, Sleep Bruxism Type 15
1650 OBS413 Obsolete: Brachydactyly of Fingers 15
1651 RCT024 Reactive Angioendotheliomatosis 15
1652 c KRT040 Keratoconus 3 15
1653 CRD014 Cardiac Diverticulum 15
1654 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1655 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 15
1656 WHB001 Wahab Syndrome 15
1657 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 15
1658 ONY005 Onychomatricoma 15
1659 TRM018 Traumatic Avascular Necrosis 15
1660 CMP079 Complete Septate Uterus 15
1661 LGH014 Light and Heavy Chain Deposition Disease 15
1662 LFT022 Left Sided Atrial Isomerism 15
1663 ITC001 Itch E3 Ubiquitin Ligase Deficiency 15
1664 MRG007 Morgellons 15
1665 CHR249 Chromosome 4q Deletion 15
1666 CHR214 Chromosome 18q Duplication 15
1667 GST058 Gestational Diabetes Insipidus 14
1668 c NDP001 Ndp-Related Retinopathies 14
1669 PHK006 Phakomatosis Pigmentokeratotica 14
1670 TBR012 Tuberculous Uveitis 14
1671 c MYP145 Myopia 16, Autosomal Dominant 14
1672 c BRC037 Brachydactyly Type A7 14
1673 OBS412 Obsolete: Preaxial Polydactyly of Toes 14
1674 TRC061 Trichostasis Spinulosa 14
1675 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 14
1676 PST037 Pasteurella Multocida Infection 14
1677 RCT033 Rectal Duplication 14
1678 TRG013 Trigeminal Autonomic Cephalalgia 14
1679 PRG036 Progressive Transformation of Germinal Centers 14
1680 CLF036 Cleft Tongue 14
1681 CHR198 Chromosome 15q Deletion 14
1682 ANR045 Aneurysm of Interventricular Septum 14
1683 6P2001 6p22 Microdeletion Syndrome 14
1684 ACR022 Acardia 14
1685 c GLC048 Glaucoma 1, Open Angle, I 14
1686 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 14
1687 ISL072 Isolated Levocardia 14
1688 APV001 Aapoaiv Amyloidosis 14
1689 KNS003 Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 14
1690 MXL011 Maxillofacial Dysostosis 14
1691 GSB001 Gas Bloat Syndrome 14
1692 PLY127 Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome 14
1693 LCL017 Localized Pagetoid Reticulosis 14
1694 CMB094 Combined Dystonia 14
1695 THR122 Thoracic Malformation 14
1696 TLN004 Talonavicular Coalition 14
1697 CNG609 Congenital Left Ventricular Aneurysm 14
1698 HRP038 Herpes Simplex Virus Stromal Keratitis 14
1699 c SCN046 Secondary Short Bowel Syndrome 14
1700 CHR196 Chromosome 14q Duplication 14
1701 CHR194 Chromosome 13q Duplication 14
1702 OBS536 Obsolete: Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 14
1703 IRS009 Iris Hypoplasia with Glaucoma 14
1704 CHR240 Chromosome 2q Duplication 14
1705 PHC005 Phacomatosis Pigmentokeratotica 14
1706 DGT004 Digitalis Poisoning 14
1707 INT102 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity 14
1708 c PLY053 Polydactyly, Postaxial, Type A3 14
1709 MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14
1710 DRT002 Duarte Variant Galactosemia 14
1711 CHR183 Chromosome 10q Deletion 14
1712 DST055 Distal 22q11.2 Microduplication Syndrome 14
1713 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
1714 P NNN030 Non-Infectious Anterior Uveitis 14
1715 CHL009 Childhood Cerebral Astrocytoma 14
1716 WLF008 Wolffian Tumor 14
1717 TRC064 Trochlear Dysplasia 14
1718 MYS071 Myasthenia, Limb-Girdle, Autoimmune 14
1719 c ANR028 Aneurysm, Intracranial Berry, 3 14
1720 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
1721 c PST110 Posterior Corneal Dystrophy 14
1722 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 14
1723 CHR197 Chromosome 15, Trisomy Mosaicism 14
1724 ORB018 Orbital Leiomyoma 14
1725 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 14
1726 MNN041 Mannose-Binding Lectin Protein Deficiency 14
1727 CLS034 Clostridium Septicum Infection 14
1728 CHR192 Chromosome 12q Duplication 14
1729 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
1730 OBS891 Obsolete: Hand-Schuller-Christian Disease 14
1731 SCN063 Scn2a Related Disorders 14
1732 CHR207 Chromosome 16q Duplication 14
1733 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 14
1734 c PRG145 Progressive Myoclonus Epilepsy 6 14
1735 PRS111 Persistent Fifth Aortic Arch 14
1736 c ELN001 Elane-Related Neutropenia 14
1737 MSP003 Misophonia 14
1738 c KCN020 Kcnt1-Related Epilepsy 14
1739 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1740 GLT037 Gluteal Muscles, Absence of 14
1741 ACT170 Acute Ackee Fruit Intoxication 14
1742 c NRC013 Narcolepsy 5 14
1743 EXG001 Exogenous Ochronosis 14
1744 ETH013 Euthyroid Graves Orbitopathy 14
1745 ISD002 Isodicentric Chromosome 15 Syndrome 14
1746 P ICH074 Ichthyosis, Lamellar, Autosomal Dominant 14
1747 c PSD024 Pseudo Pelger-Huet Anomaly 14
1748 VCT002 Vacterl Association with Hydrocephaly, X-Linked 14
1749 9Q2003 9q21.13 Microdeletion Syndrome 14
1750 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
1751 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1752 TRP011 Triopia 14
1753 SHR117 Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms 14
1754 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 14
1755 PRT165 Partial Deletion of the Short Arm of Chromosome 7 14
1756 20Q001 20q13.33 Microdeletion Syndrome 14
1757 PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 14
1758 CHR189 Chromosome 12p Deletion 14
1759 PRV008 Parvovirus Antenatal Infection 14
1760 CHR239 Chromosome 2q Deletion 13
1761 CHR271 Chromosome 9q Deletion 13
1762 SKD001 Sakoda Complex 13
1763 c INF151 Infectious Panuveitis 13
1764 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 13
1765 DBS003 Dibasic Amino Aciduria I 13
1766 MTC196 Mitochondrial Disease with Epilepsy 13
1767 c ATM056 Autoimmune Thyroid Disease 1 13
1768 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 13
1769 c SPN403 Spinocerebellar Ataxia, X-Linked 2 13
1770 PRR018 Preauricular Sinus 13
1771 ORB016 Orbital Varix 13
1772 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 13
1773 FMR007 Femur Bifid with Monodactylous Ectrodactyly 13
1774 CHR254 Chromosome 5q Duplication 13
1775 c DYS091 Dyschromatosis Universalis Hereditaria 2 13
1776 EPL095 Epilepsy with Myoclonic Absences 13
1777 LFT005 Left-Sided Gallbladder 13
1778 CHR274 Chromosome Xq Duplication 13
1779 SML040 Smoldering Systemic Mastocytosis 13
1780 PRM153 Primary Progressive Apraxia of Speech 13
1781 ANN009 Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 13
1782 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
1783 PRM238 Primary Intralymphatic Angioendothelioma 13
1784 URC012 Urachal Sinus 13
1785 c USH046 Usher Syndrome, Type 1m 13
1786 SPN414 Spondylometaphyseal Dysplasia, East African Type 13
1787 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1788 DYS181 Dyssegmental Dysplasia with Glaucoma 13
1789 c SCN066 Secondary Erythromelalgia 13
1790 ICH018 Ichthyosis Linearis Circumflexa 13
1791 ONY004 Onychocytic Matricoma 13
1792 c DPD002 Depdc5-Related Epilepsy 13
1793 SVR061 Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 13
1794 TMR022 Tumor of Meninges 13
1795 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 13
1796 TCR004 Tacrolimus Dose Selection 13
1797 ACR113 Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma 13
1798 DST013 Distal Myopathy with Vocal Cord Weakness 13
1799 ANT064 Antidepressant or Antipsychotic Toxicity or Dose Selection 13
1800 CHR556 Chromosome 3q Duplication 13
1801 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
1802 DYT003 Dyt-Gnal 13
1803 HNR001 Heiner Syndrome 13
1804 CRN039 Carnitine Acetyltransferase Deficiency 13
1805 IDP038 Idiopathic Acute Transverse Myelitis 13
1806 c OTS009 Otosclerosis 5 13
1807 c DYS194 Dysautonomia-Like Disorder 13
1808 ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 13
1809 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 13
1810 CNG235 Congenital Microgastria 13
1811 MTS004 Metastatic Insulinoma 13
1812 FCL087 Facial Infiltrating Lipomatosis 13
1813 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
1814 CMP062 Complication After Organ Transplantation 13
1815 SRN003 Seronegative Autoimmune Hepatitis 13
1816 ATL006 Atlanto-Axial Fusion 13
1817 BLD072 Bleeding Disorder, East Texas Type 13
1818 c ANR029 Aneurysm, Intracranial Berry, 6 13
1819 GLY052 Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 13
1820 MLT168 Multicore Disease 13
1821 CHR223 Chromosome 1q Deletion 13
1822 CLF019 Cleft Palate Short Stature Vertebral Anomalies 13
1823 INV015 Invasive Non-Typhoidal Salmonellosis 13
1824 BNG042 Benign Multicystic Peritoneal Mesothelioma 13
1825 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
1826 RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 13
1827 OBS116 Obsolete: Duplication 4q 13
1828 MDR001 Medeira-Dennis-Donnai Syndrome 13
1829 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 13
1830 CRY037 Cryptophthalmia 13
1831 11P002 11p15.4 Microduplication Syndrome 13
1832 RWL001 Rowley-Rosenberg Syndrome 13
1833 ASP009 Aspergillus Niger Infection 13
1834 EXT060 Extragonadal Teratoma 13
1835 CHR230 Chromosome 20q Deletion 13
1836 ATT023 Attenuated Chediak-Higashi Syndrome 13
1837 c MTR057 Maternal Uniparental Disomy of Chromosome X 13
1838 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 13
1839 CRN310 Cranial Malformation 13
1840 MTT008 Mt-Atp6-Related Mitochondrial Spastic Paraplegia 13
1841 TRT022 True Thymic Hyperplasia 13
1842 DST079 Distal Trisomy 5q 13
1843 RBL002 Rubella Panencephalitis 13
1844 LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 13
1845 c HYD070 Hydrocephalus, Congenital Communicating, 1 13
1846 MYL078 Myelodysplastic Syndrome with Single Lineage Dysplasia 13
1847 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
1848 RCN002 Ricin Poisoning 13
1849 ACR027 Acrodysplasia Scoliosis 13
1850 EXS022 Exostosis, Dupuytren Subungual 13
1851 CHR195 Chromosome 14q Deletion 13
1852 c UNP003 Uniparental Disomy of Chromosome 11 13
1853 PLG007 Pili Gemini 13
1854 BLL014 Bullous Diffuse Cutaneous Mastocytosis 12
1855 CNG519 Congenital Gerbode Defect 12
1856 HLL011 Hall-Riggs Syndrome 12
1857 GRN042 Granulomatous Lobular Mastitis 12
1858 P ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 12
1859 ERL023 Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation 12
1860 c GLC102 Glaucoma 1, Open Angle, J 12
1861 c INF119 Infantile Mercury Poisoning 12
1862 c VCN001 Vcan-Related Vitreoretinopathy 12
1863 THR034 Thoracopelvic Dysostosis 12
1864 CHR206 Chromosome 16q Deletion 12
1865 PLM053 Pulmonary Artery Agenesis 12
1866 CTR009 Cataract Congenital Dominant Non Nuclear 12
1867 P CNG326 Congenital Primary Megaureter 12
1868 CHR258 Chromosome 6q Duplication 12
1869 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 12
1870 THS001 Thai Symphalangism Syndrome 12
1871 c SCL058 Scoliosis, Isolated 2 12
1872 CD4004 Cd4 Deficiency 12
1873 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1874 BWH001 Bow Hunter's Stroke 12
1875 MRV001 Morvan's Fibrillary Chorea 12
1876 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 12
1877 c INF052 Infantile Scoliosis 12
1878 c HRD211 Hereditary Dentin Defect 12
1879 UNL006 Unilateral Focal Polymicrogyria 12
1880 VTM021 Vitamin K Antagonists Toxicity or Dose Selection 12
1881 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 12
1882 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 12
1883 CHR458 Chromosome 9 Inversion 12
1884 CDN003 Codeine Toxicity 12
1885 XQ1001 Xq12-Q13.3 Duplication Syndrome 12
1886 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 12
1887 CLC060 Clcn4-Related X-Linked Intellectual Disability Syndrome 12
1888 CHR175 Chromhidrosis 12
1889 IRF001 Irf6-Related Disorders 12
1890 ECT024 Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 12
1891 CLR130 Ciliary Dyskinesia with Defective Radial Spokes 12
1892 c ATM057 Autoimmune Thyroid Disease 2 12
1893 PRT213 Partial Duplication of Chromosome 19 12
1894 ACR040 Acromelanosis 12
1895 PCR003 Pauciarticular Onset Juvenile Idiopathic Arthritis 12
1896 c SYN050 Syndactyly Type 6 12
1897 NNP018 Non-Paraneoplastic Limbic Encephalitis 12
1898 IDP023 Idiopathic Subglottic Tracheal Stenosis 12
1899 FBR026 Fibromatosis Multiple Non Ossifying 12
1900 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12
1901 LPM011 Lip, Median Nodule of Upper 12
1902 INF059 Infundibulopelvic Dysgenesis 12
1903 ANN018 Anonychia, Total, with Microcephaly 12
1904 SPR028 Spirochetes Disease 12
1905 CLF040 Cleft Lip-Retinopathy Syndrome 12
1906 CHR255 Chromosome 6p Deletion 12
1907 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
1908 MSN011 Mesangioproliferative Glomerulopathy 12
1909 CYS035 Cystic Adventitial Disease 12
1910 THR083 Third Branchial Cleft Anomaly 12
1911 CMP031 Complement Component Deficiency 12
1912 GLM017 Glomus Tympanicum Tumor 12
1913 NSL021 Nasal Encephalocele 12
1914 ISC019 Ischiovertebral Syndrome 12
1915 c ACQ036 Acquired Angioedema Type 2 12
1916 CNG335 Congenital Ectropion Uveae 12
1917 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 12
1918 MND008 Mandibular Arteriovenous Malformation 12
1919 ANM075 Anomalous Aortic Origin of Coronary Artery 12
1920 SVR093 Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome 12
1921 CHR233 Chromosome 21q Deletion 12
1922 c KLZ002 Kala-Azar 2 12
1923 c ANR025 Aneurysm, Intracranial Berry, 10 12
1924 ANM076 Anomalous Aortic Origin of the Right Coronary Artery 12
1925 c PPL045 Papular Mucinosis of Infancy 12
1926 c CNG343 Congenital Coronary Artery Aneurysm 12
1927 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 12
1928 DST071 Distal Monosomy 19p13.3 12
1929 XLN145 X-Linked Intellectual Disability, Pai Type 12
1930 ART129 Arterial Dissection with Lentiginosis 12
1931 c GLC080 Glaucoma 1, Open Angle, N 12
1932 RHB007 Rhabdomyomatous Mesenchymal Hamartoma 12
1933 PRL020 Paralysis Agitans, Juvenile, of Hunt 12
1934 ISL131 Isolated Foveal Hypoplasia 12
1935 LCT018 Lactobezoar 12
1936 INT228 Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome 12
1937 ONY002 Onychotrichodysplasia and Neutropenia 12
1938 TXN001 Toxin-Mediated Infectious Botulism 12
1939 CND035 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen 12
1940 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 12
1941 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 12
1942 c EZH001 Ezh2-Related Overgrowth 12
1943 CMP085 Camptomelic Syndrome, Long-Limb Type 12
1944 HND011 Hendra Virus Infection 12
1945 SXC004 Sex Chromosome Disorder of Sex Development 12
1946 DYS208 Dysostosis with Brachydactyly 12
1947 JMC001 Jamaican Vomiting Sickness 12
1948 NYS007 Nystagmus, Hereditary Vertical 12
1949 TRC112 Trochlea of the Humerus, Aplasia of 12
1950 PRP103 Peripapillary Staphyloma 12
1951 LMY006 Leiomyoma of Vulva and Esophagus 12
1952 CHR231 Chromosome 20q Duplication 12
1953 TRC088 Trochleitis 12
1954 c USH011 Usher Syndrome, Type 2b 12
1955 c PSR034 Psoriasis 15 12
1956 CHR210 Chromosome 17q Duplication 11
1957 CHR217 Chromosome 19q Deletion 11
1958 CYS023 Cystic Medial Necrosis of Aorta 11
1959 TXC021 Toxicity or Absent Response to Clozapine 11
1960 CHR260 Chromosome 7p Deletion 11
1961 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1962 P ISL045 Isolated Focal Cortical Dysplasia Type I 11
1963 CNG131 Congenital Unilateral Pulmonary Hypoplasia 11
1964 CHR185 Chromosome 11p Deletion 11
1965 MDL007 Medial Medullary Syndrome 11
1966 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 11
1967 CTR005 Cataract and Congenital Ichthyosis 11
1968 ANG033 Angiomyomatous Hamartoma 11
1969 INF134 Infective Myositis 11
1970 TGV001 Togaviridae Disease 11
1971 P PRM298 Primary Peritoneal Tumor 11
1972 c CNG253 Congenital Communicating Hydrocephalus 11
1973 SPR080 Spirillary Rat-Bite Fever 11
1974 TRY006 Tryptophanuria with Dwarfism 11
1975 SLN002 Selenium Poisoning 11
1976 CHR203 Chromosome 16p Duplication 11
1977 CNG459 Congenital Myopathy with Myasthenic-Like Onset 11
1978 ALC030 Alect2 Amyloidosis 11
1979 CRD015 Cardiac Hydatid Cysts with Intracavitary Expansion 11
1980 FGS003 Fg Syndrome 3 11
1981 SRP007 Serpinopathy 11
1982 VRL018 Virilizing Ovarian Tumor 11
1983 ACT096 Acute Cholinergic Dysautonomia 11
1984 c CNG455 Congenital Aortopulmonary Window 11
1985 STT044 Statin Toxicity 11
1986 TBC002 Tbc1d24-Related Disorders 11
1987 PST112 Post-Traumatic Pituitary Deficiency 11
1988 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 11
1989 CLR026 Ciliary Dyskinesia with Excessively Long Cilia 11
1990 GNT118 Genetic Syndrome with a Dandy-Walker Malformation As Major Feature 11
1991 CHR235 Chromosome 22q Deletion 11
1992 PST109 Postinfectious Encephalitis 11
1993 MDP001 Midphalangeal Hair 11
1994 c JBR048 Joubert Syndrome 36 11
1995 LPC004 Lipoic Acid Biosynthesis Defects 11
1996 ACR080 Acral Persistent Papular Mucinosis 11
1997 CNG053 Congenital Amputation 11
1998 c AMY014 Amyloidosis Nodular Localized Cutaneous 11
1999 c CHR689 Chronic Polyradiculoneuropathy 11
2000 LMY012 Leiomyosarcoma of the Cervix Uteri 11
2001 EPS046 Epstein-Barr Virus-Related Tumor 11
2002 P CNG595 Congenital Alacrima 11
2003 RTN201 Retinoschisis, Autosomal Dominant 11
2004 CHR218 Chromosome 19q Duplication 11
2005 MTR084 Maternal Hyperthermia-Induced Birth Defects 11
2006 c UNP004 Uniparental Disomy of Chromosome 2 11
2007 LPC003 Lipoic Acid Synthetase Deficiency 11
2008 FRM006 Formaldehyde Poisoning 11
2009 BRR006 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 11
2010 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
2011 CHR221 Chromosome 1p Duplication 11
2012 c SCL059 Scoliosis, Isolated 4 11
2013 c SCL060 Scoliosis, Isolated 5 11
2014 RLF001 Rela Fusion-Positive Ependymoma 11
2015 CHR459 Chromosome Xp Deletion 11
2016 ALP098 Alpha-2-Deficient Collagen Disease 11
2017 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 11
2018 GNT037 Genetic Hyperferritinemia Without Iron Overload 11
2019 OBS544 Obsolete: Methotrexate Poisoning 11
2020 CRB080 Cor Biloculare 11
2021 BLR012 Biliary Hypoplasia 11
2022 HYP176 Hypertelorism and Tetralogy of Fallot 11
2023 c ALP037 Alopecia, Androgenetic, 3 11
2024 c RST019 Restless Legs Syndrome 8 11
2025 MCD003 Mcdowall Syndrome 11
2026 PRT186 Partial Duplication of the Long Arm of Chromosome X 11
2027 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
2028 DPL010 Duplication of the Esophagus 11
2029 OBS634 Obsolete: Autosomal Dominant Focal Dystonia, Dyt7 Type 11
2030 ADV004 Adverse Events of 5-Alpha-Reductase Inhibitors 11
2031 NTR048 Neutropenia, Lethal Congenital, with Eosinophilia 11
2032 SJG009 Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement 11
2033 c ANR050 Aneurysm, Intracranial Berry, 12 11
2034 IDP036 Idiopathic Bilateral Vestibulopathy 11
2035 RHZ007 Rhizomelic Pseudopolyarthritis 11
2036 AST008 Asternia 11
2037 c ICH016 Ichthyosis Lamellar 3 11
2038 ALL025 Allopurinol Toxicity 11
2039 PRT185 Partial Deletion of the Long Arm of Chromosome 13 11
2040 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 11
2041 PLY165 Polyosteolysis-Hyperostosis Syndrome 11
2042 ERY018 Erythema Nodosum, Idiopathic 11
2043 KST002 Kuster Syndrome 11
2044 XNT007 Xanthogranulomatous Sialadenitis 11
2045 PLC012 Pleoconial Myopathy with Salt Craving 11
2046 ACQ011 Acquired Agranulocytosis 11
2047 CHN026 Chondrodysplasia Calcificans Metaphysealis 11
2048 c TRR002 Trio-Related Intellectual Disability 11
2049 RSR001 Reese Retinal Dysplasia 10
2050 CHR228 Chromosome 20p Deletion 10
2051 MTH053 Methotrexate Dose Selection 10
2052 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 10
2053 PRS112 Persistent Eustachian Valve 10
2054 MLT172 Multiple Metaphyseal Dysplasia 10
2055 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 10
2056 DBL015 Double Outlet Right Atrium 10
2057 SPL021 Split Hand Split Foot Nystagmus 10
2058 DTR002 Dieterich's Disease 10
2059 PRT163 Partial Deletion of the Short Arm of Chromosome 5 10
2060 ACT168 Acute Annular Outer Retinopathy 10
2061 LKN006 Leukoencephalopathy, Cerebral Calcifications, and Cysts 10
2062 HYP668 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 10
2063 HFT001 Hooft Disease 10
2064 ISL154 Isolated Exencephaly 10
2065 MSC087 Mosaic Trisomy 4 10
2066 ANN019 Anonychia-Ectrodactyly 10
2067 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 10
2068 SYM005 Symmastia 10
2069 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 10
2070 RDS004 Rud Syndrome 10
2071 NLL003 Null Pituitary Adenoma 10
2072 ISL112 Isolated Congenital Hepatic Fibrosis 10
2073 P OBS551 Obsolete: Ehlers-Danlos Syndrome Type 1 10
2074 INC014 Incessant Infant Ventricular Tachycardia 10
2075 c WDR002 Wdr26-Related Intellectual Disability 10
2076 MRN008 Marin-Amat Syndrome 10
2077 SYN109 Syndrome with a Dandy-Walker Malformation As Major Feature 10
2078 c CNG257 Congenital Pulmonary Sequestration 10
2079 DSC010 Discrete Papular Lichen Myxedematosus 10
2080 c GLC032 Glaucoma, Hereditary 10
2081 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 10
2082 CNG575 Congenital Joint Dislocations 10
2083 CNG244 Congenital Laryngeal Cyst 10
2084 RDT003 Radiation Induced Angiosarcoma of the Breast 10
2085 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 10
2086 ATS453 Autosomal Anomaly 10
2087 CHR267 Chromosome 8q Deletion 10
2088 CHR186 Chromosome 11p Duplication 10
2089 CYN006 Cyanide-Induced Parkinsonism-Dystonia 10
2090 ATY027 Atypical Lichen Myxedematosus 10
2091 TRR003 Terrien Marginal Degeneration 10
2092 OBS410 Obsolete: Central Polydactyly of Toes 10
2093 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 10
2094 CLR128 Ciliary Discoordination Due to Random Ciliary Orientation 10
2095 TRD004 Taurodontism, Microdontia, and Dens Invaginatus 10
2096 TRC060 Trichoscyphodysplasia 10
2097 CHR191 Chromosome 12q Deletion 10
2098 DCK001 Dock2 Deficiency 10
2099 PRX078 Preaxial Polydactyly of Fingers 10
2100 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
2101 c PRM185 Primary Essential Cutis Verticis Gyrata 10
2102 c ZYG005 Zygodactyly Type 4 10
2103 IGG010 Igg4-Related Aortitis 10
2104 CNG516 Congenital Cervical Spinal Stenosis 10
2105 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 10
2106 c SCN010 Scn9a-Related Inherited Erythromelalgia 10
2107 CNG472 Congenital Insensitivity to Pain with Severe Intellectual Disability 10
2108 PRT111 Partial Septate Uterus 10
2109 LPD038 Lipedematous Scalp 10
2110 c PTR015 Paternal Uniparental Disomy of Chromosome X 10
2111 TRS009 Trisomy 12 Mosaicism 10
2112 BST005 Bustos Simosa Pinto Cisternas Syndrome 10
2113 MCR184 Macrodactyly of Fingers 10
2114 DSM014 Desmoplastic Infantile Astrocytoma/ganglioglioma 10
2115 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
2116 ISL065 Isolated Congenital Alacrima 10
2117 RDT016 Radiation-Induced Plexopathy 10
2118 OBS123 Obsolete: Amniotic Bands 10
2119 c HYP449 Hypertension, Essential 3 10
2120 c HYP450 Hypertension, Essential 4 10
2121 AHM001 Ahumada Del Castillo Syndrome 10
2122 WHT012 White Fibrous Papulosis of the Neck 10
2123 CHT001 Chaotic Atrial Tachycardia 10
2124 ARW003 Airway-Centered Interstitial Fibrosis 10
2125 OBS541 Obsolete: Bullous Systemic Lupus Erythematosus 10
2126 CNG097 Congenital Giant Megaureter 10
2127 BRN050 Branchial Arch Defects 10
2128 PTT019 Pituitary Dwarfism with Large Sella Turcica 10
2129 CQR001 Coq-Responsive Oxphos Deficiency 10
2130 DFF017 Diffuse Cavernous Hemangioma of the Rectum 10
2131 WND003 Windblown Hand 10
2132 OBS865 Obsolete: Congenital Valvular Dysplasia 10
2133 IDP079 Idiopathic Dropped Head Syndrome 10
2134 CHR234 Chromosome 21q Duplication 10
2135 BRN058 Brunsting-Perry Syndrome 10
2136 ERY024 Erythropoietic Uroporphyria Associated with Myeloid Malignancy 10
2137 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
2138 RNP002 Renoprival Hypertension 9
2139 c PTR019 Paternal Uniparental Disomy of Chromosome 5 9
2140 c PLR018 Pleuropulmonary Blastoma Type 1 9
2141 OBS830 Obsolete: Autosomal Dominant Spastic Paraplegia Type 9 9
2142 MLT158 Multiple Exostoses with Spastic Tetraparesis 9
2143 SNS012 Sinus Node Disease and Myopia 9
2144 GNT022 Giant Mammary Hamartoma 9
2145 MCL020 Macules Hereditary Congenital Hypopigmented and Hyperpigmented 9
2146 CHR237 Chromosome 2p Deletion 9
2147 CLS033 Clostridium Sordellii Infection 9
2148 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
2149 MCR090 Microspherophakia with Hernia 9
2150 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
2151 FND005 Fundus Pulverulentus 9
2152 STC008 Stocco Dos Santos Syndrome 9
2153 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 9
2154 ACH016 Achard Thiers Syndrome 9
2155 CNG283 Congenital Pseudoarthrosis of the Femur 9
2156 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 9
2157 CHR216 Chromosome 19p Duplication 9
2158 CTR030 Citrulline Transport Defect 9
2159 CRY020 Cryptogenic Late-Onset Epileptic Spasms 9
2160 PRT153 Partial Deletion of Chromosome 11 9
2161 GRN053 Grin2b Related Syndrome 9
2162 HRP036 Herpesvirus Simiae B Virus Infection 9
2163 HMR042 Humero-Ulnar Synostosis 9
2164 AGN006 Agnathia-Microstomia-Synotia 9
2165 ACC010 Accessory Tricuspid Valve Tissue 9
2166 P RCR003 Recurrent Peripheral Facial Palsy 9
2167 SCR023 Sacral Plexopathy 9
2168 INF139 Infantile Choroidocerebral Calcification Syndrome 9
2169 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
2170 CRT077 Cortical Blindness-Intellectual Disability-Polydactyly Syndrome 9
2171 c HMR041 Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 9
2172 ADN079 Adenosine Triphosphatase Deficiency, Anemia Due to 9
2173 SPL017 Splenogonadal Fusion Limb Defects Micrognatia 9
2174 ZSK001 Zuska's Disease 9
2175 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
2176 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9
2177 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9
2178 IDP042 Idiopathic Recurrent Stupor 9
2179 CNG272 Congenital Achiasma 9
2180 c PRM317 Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan 9
2181 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
2182 GRN018 Granulomas, Congenital Cerebral 9
2183 BYL003 Baylisascaris Infection 9
2184 PRT219 Partial Duplication of the Short Arm of Chromosome 6 9
2185 MSM006 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 9
2186 AMN016 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 9
2187 CNG255 Congenital Temporomandibular Joint Ankylosis 9
2188 CHR287 Chronic Polyradiculoneuritis 9
2189 MSC013 Mosaic Monosomy 18 9
2190 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
2191 CRH002 Crohn's Disease of the Esophagus 9
2192 PST076 Postcardiotomy Right Ventricular Failure 9
2193 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
2194 CNG327 Congenital Epstein-Barr Virus Infection 9
2195 c OBS550 Obsolete: Ehlers-Danlos Syndrome Type 2 9
2196 CNG117 Congenital Nonhemolytic Jaundice 9
2197 P ANM056 Anomaly of Chromosome 10 9
2198 XLN212 X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome 9
2199 PRT154 Partial Deletion of Chromosome 18 9
2200 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
2201 DST078 Distal Trisomy 6q 9
2202 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 9
2203 DVL026 Developmental Defect of the Eye 9
2204 PRT171 Partial Deletion of the Short Arm of Chromosome 18 9
2205 c SCN009 Scn1a-Related Seizure Disorders 8
2206 PRT228 Partial Duplication of Chromosome 1 8
2207 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 8
2208 c OBS841 Obsolete: Ehlers-Danlos Syndrome Type 7a 8
2209 NYS008 Nystagmus, Myoclonic 8
2210 CHP001 Chapare Hemorrhagic Fever 8
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