Rare Diseases Category (14542 diseases)


Including: rare
See other categories (disease lists)

# Family MCID Name MIFTS
1 HRD090 Harderoporphyria 24
2 FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 18
3 c TBR025 Tuberous Sclerosis 1 84
4 MRF001 Marfan Syndrome 76
5 P LYN001 Lynch Syndrome 76
6 PLM134 Pulmonary Fibrosis, Idiopathic 76
7 BRT054 Brittle Bone Disorder 74
8 P RSP003 Respiratory Failure 74
9 BSL036 Basal Cell Nevus Syndrome 73
10 P APL001 Aplastic Anemia 73
11 c GLY008 Glycogen Storage Disease Ii 72
12 P MTC003 Metachromatic Leukodystrophy 71
13 c NRF023 Neurofibromatosis, Type Ii 71
14 P AMY004 Amyloidosis 70
15 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70
16 P GCH001 Gaucher's Disease 70
17 P MPL001 Maple Syrup Urine Disease 70
18 P CHR012 Chronic Granulomatous Disease 69
19 P TBR001 Tuberous Sclerosis 69
20 LYM007 Lymphangioleiomyomatosis 68
21 CRT072 Creutzfeldt-Jakob Disease 68
22 MLD001 Melioidosis 67
23 CRB037 Cerebral Palsy 67
24 P DBT009 Diabetes Mellitus 67
25 CHD001 Chediak-Higashi Syndrome 67
26 c JVN010 Juvenile Rheumatoid Arthritis 66
27 SND001 Sandhoff Disease 66
28 NVS017 Nevus, Epidermal 66
29 c LNG044 Long Qt Syndrome 1 66
30 c HRD010 Hereditary Spastic Paraplegia 66
31 P DMN002 Dementia 66
32 ANG054 Angina Pectoris 66
33 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 66
34 CHG001 Chagas Disease 66
35 P HRM001 Hermansky-Pudlak Syndrome 65
36 c DNG003 Dengue Disease 65
37 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 65
38 PRP001 Propionic Acidemia 65
39 P VNW001 Von Willebrand's Disease 65
40 c GM1007 Gm1 Gangliosidosis 65
41 GLL008 Gilles De La Tourette Syndrome 65
42 GRN037 Granulomatosis with Polyangiitis 64
43 CHY002 Chylomicron Retention Disease 64
44 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 64
45 AFB002 Afibrinogenemia, Congenital 64
46 P HRD011 Hereditary Spherocytosis 64
47 P CHL002 Childhood Absence Epilepsy 63
48 KND001 Kindler Syndrome 63
49 OMN001 Omenn Syndrome 63
50 KRN002 Kearns-Sayre Syndrome 63
51 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63
52 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
53 P NTR004 Neutropenia 63
54 DGR001 Digeorge Syndrome 62
55 LYM017 Lyme Disease 62
56 ERL001 Early Myoclonic Encephalopathy 62
57 c INT072 Intestinal Pseudo-Obstruction 62
58 c FNC043 Fanconi Anemia, Complementation Group E 62
59 BTN003 Biotinidase Deficiency 62
60 P FNG006 Feingold Syndrome 1 62
61 P BCK002 Beckwith-Wiedemann Syndrome 62
62 TRG002 Trigeminal Neuralgia 61
63 c CLR131 Ciliary Dyskinesia, Primary, 1 61
64 P ALC033 Alcohol Use Disorder 61
65 ARG002 Argininosuccinic Aciduria 61
66 NRM001 Neuromyelitis Optica 61
67 P ACT010 Acth-Secreting Pituitary Adenoma 61
68 PHL006 Phelan-Mcdermid Syndrome 60
69 HYP458 Hyper Ige Syndrome 60
70 P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60
71 CRY005 Cryptococcosis 60
72 ESP020 Esophageal Atresia 60
73 P PLY017 Polyarteritis Nodosa 60
74 c LTN004 Late-Onset Retinal Degeneration 60
75 P INT143 Interstitial Cystitis 60
76 CHL067 Cholecystitis 60
77 PMS001 Poems Syndrome 60
78 RHM001 Rheumatic Fever 59
79 P ALP009 Alopecia Areata 59
80 DNN001 Danon Disease 59
81 c SVR003 Severe Congenital Neutropenia 59
82 FLR001 Filarial Elephantiasis 59
83 NRN004 Neuroendocrine Tumor 59
84 DPH001 Diphtheria 59
85 PRT013 Portal Hypertension 59
86 ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 59
87 TTZ003 Tietz Albinism-Deafness Syndrome 59
88 STT001 Status Epilepticus 59
89 P EPS003 Episodic Ataxia 59
90 c LYN004 Lynch Syndrome I 58
91 P SHR029 Short Syndrome 58
92 P CRN323 Cranioectodermal Dysplasia 58
93 c CHL140 Chilblain Lupus 1 58
94 BRK001 Brooke-Spiegler Syndrome 58
95 CHL065 Cholangiocarcinoma 58
96 ASP002 Aspartylglucosaminuria 58
97 P EHL001 Ehlers-Danlos Syndrome 58
98 P ADM011 Adams-Oliver Syndrome 58
99 RGH009 Right Atrial Isomerism 57
100 SCR008 Scrub Typhus 57
101 ALP097 Alopecia Universalis Congenita 57
102 MXD005 Mixed Connective Tissue Disease 57
103 MTC027 Mitochondrial Trifunctional Protein Deficiency 57
104 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57
105 P NRF002 Neurofibromatosis 57
106 P SCL018 Scoliosis 57
107 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57
108 P HDC001 Headache 57
109 CLF004 Cleft Lip/palate 57
110 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57
111 SFT003 Soft Tissue Sarcoma 57
112 P HYP050 Hyperinsulinemic Hypoglycemia 57
113 SCH014 Schistosomiasis 56
114 c FRS014 Fraser Syndrome 1 56
115 P SCK005 Sickle Cell Disease 56
116 ACN002 Acanthosis Nigricans 56
117 SLP001 Sleeping Sickness 56
118 DYS164 Dyskeratosis Congenita, X-Linked 56
119 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 56
120 P EXD001 Exudative Vitreoretinopathy 56
121 P MYS005 Myositis 56
122 GRS011 Gerstmann-Straussler Disease 56
123 CRY003 Cryptosporidiosis 56
124 FLR002 Filariasis 55
125 c SCN036 Secondary Progressive Multiple Sclerosis 55
126 DYS192 Dystonia, Dopa-Responsive 55
127 CHR105 Choreoacanthocytosis 55
128 TRC096 Trichothiodystrophy 55
129 P HYP024 Hypoparathyroidism 55
130 HYP706 Hypermobile Ehlers-Danlos Syndrome 55
131 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55
132 P ANT006 Antiphospholipid Syndrome 55
133 P MRG008 Meier-Gorlin Syndrome 1 55
134 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55
135 DNN002 Donnai-Barrow Syndrome 55
136 KRT002 Keratomalacia 55
137 RLP001 Relapsing Polychondritis 55
138 SYN007 Synovitis 55
139 EBS001 Ebstein Anomaly 55
140 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 55
141 NNT017 Neonatal Adrenoleukodystrophy 54
142 ARS001 Aarskog-Scott Syndrome 54
143 c FNC042 Fanconi Anemia, Complementation Group D2 54
144 FCT003 Factor X Deficiency 54
145 P ALP008 Alopecia 54
146 PPL025 Popliteal Pterygium Syndrome 54
147 MBS002 Moebius Syndrome 54
148 SMT008 Smith-Magenis Syndrome 54
149 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
150 P HRD144 Hereditary Mixed Polyposis Syndrome 54
151 P AGN002 Agnosia 54
152 TRD006 Tardive Dyskinesia 53
153 DPM001 Dopamine Beta-Hydroxylase Deficiency 53
154 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
155 PRN001 Purine Nucleoside Phosphorylase Deficiency 53
156 MNN032 Meningococcal Meningitis 53
157 P VSC013 Visceral Heterotaxy 53
158 CCT002 Cicatricial Pemphigoid 53
159 FRN039 Frank-Ter Haar Syndrome 53
160 HLL004 Hellp Syndrome 53
161 SCH016 Schimke Immunoosseous Dysplasia 53
162 TRC023 Trichinosis 53
163 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
164 RSP023 Rasopathy 53
165 NCR004 Nocardiosis 53
166 THR009 Thrombocytopenia-Absent Radius Syndrome 53
167 c LNG048 Long Qt Syndrome 3 53
168 P STS003 Sitosterolemia 53
169 CNG046 Congenital Fiber-Type Disproportion 53
170 BRN003 Branchiooculofacial Syndrome 53
171 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 53
172 P BSL038 Basal Ganglia Calcification, Idiopathic, 1 53
173 OCL039 Oculoectodermal Syndrome 52
174 NRL004 Neuroleptic Malignant Syndrome 52
175 OCL020 Ocular Cicatricial Pemphigoid 52
176 PRP016 Paraplegia 52
177 STV003 Stuve-Wiedemann Syndrome 52
178 P RTN016 Retinal Degeneration 52
179 P ECL001 Eclampsia 52
180 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
181 P MTH008 Methylmalonic Acidemia 52
182 LMB002 Lambert-Eaton Myasthenic Syndrome 52
183 c PSR018 Psoriasis 13 52
184 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
185 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 52
186 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
187 MLB001 Mulibrey Nanism 52
188 c USH035 Usher Syndrome Type 2 52
189 c HNT004 Huntington Disease-Like 2 52
190 P SLV027 Silver-Russell Syndrome 1 52
191 RST011 Restrictive Dermopathy, Lethal 51
192 END020 Endocardial Fibroelastosis 51
193 MLC004 Mulchandani-Bhoj-Conlin Syndrome 51
194 RFL001 Reflex Sympathetic Dystrophy 51
195 P MRN003 Marinesco-Sjogren Syndrome 51
196 CLB002 Clubfoot 51
197 CRM001 Crimean-Congo Hemorrhagic Fever 51
198 c BRD012 Bardet-Biedl Syndrome 11 51
199 c OST126 Osteopetrosis, Autosomal Recessive 1 51
200 INT276 Interatrial Communication 51
201 DRR008 Diarrhea 1, Secretory Chloride, Congenital 51
202 KPS002 Kaposiform Hemangioendothelioma 50
203 P THY054 Thyrotoxic Periodic Paralysis 50
204 c OST120 Osteopetrosis, Autosomal Recessive 5 50
205 NTR018 Neutrophilia, Hereditary 50
206 LMB050 Limbal Stem Cell Deficiency 50
207 P CMP008 Compartment Syndrome 50
208 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 50
209 ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 50
210 PST049 Postaxial Acrofacial Dysostosis 50
211 c SVR005 Severe Pre-Eclampsia 50
212 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
213 SLT005 Solitary Median Maxillary Central Incisor 49
214 FLT009 Folate Malabsorption, Hereditary 49
215 P TMP001 Temporal Lobe Epilepsy 49
216 MYC012 Mycetoma 49
217 WLL006 Wells Syndrome 49
218 PRC003 Proctitis 49
219 DDF001 Dedifferentiated Liposarcoma 49
220 c WRD020 Waardenburg Syndrome, Type 4a 49
221 P ALP061 Alopecia, Androgenetic, 1 49
222 c 46X049 46,xy Sex Reversal 2 49
223 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49
224 P MRC003 Mercury Poisoning 49
225 CRN041 Carnitine-Acylcarnitine Translocase Deficiency 49
226 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49
227 c BRD018 Bardet-Biedl Syndrome 6 49
228 BTY001 Butyrylcholinesterase Deficiency 49
229 P MCL001 Mucolipidosis 49
230 HPT009 Hepatopulmonary Syndrome 48
231 c CRN108 Cranioectodermal Dysplasia 1 48
232 c CNG027 Congenital Hemolytic Anemia 48
233 c FNC032 Fanconi Anemia, Complementation Group B 48
234 c LYM145 Lymphatic Malformation 5 48
235 FRN020 Frontal Fibrosing Alopecia 48
236 P OCL001 Ocular Albinism 48
237 HMS001 Hemosiderosis 48
238 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 48
239 FBR032 Fibromuscular Dysplasia 48
240 IDP074 Idiopathic Bronchiectasis 48
241 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
242 P CLL015 Collagen Disease 48
243 SML028 Semilobar Holoprosencephaly 48
244 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 47
245 SPH010 Sphingolipidosis 47
246 c AMY009 Amyloidosis Aa 47
247 c MCK033 Meckel Syndrome, Type 4 47
248 DPN005 Du Pan Syndrome 47
249 P RDL002 Radioulnar Synostosis 47
250 MRF007 Marfanoid Hypermobility Syndrome 47
251 P GND004 Gonadal Dysgenesis 47
252 P GNG025 Gingival Fibromatosis 47
253 P TRT019 Torticollis 47
254 c ACT076 Acute Myocarditis 47
255 NSS002 Neisseria Meningitidis Infection 47
256 CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 47
257 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 47
258 MNC019 Monocarboxylate Transporter 1 Deficiency 47
259 ESN015 Eosinophilic Fasciitis 47
260 STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46
261 HRT030 Hartsfield Syndrome 46
262 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 46
263 PST062 Pustulosis Palmaris Et Plantaris 46
264 EPT021 Epithelial Recurrent Erosion Dystrophy 46
265 c LNG050 Long Qt Syndrome 5 46
266 P VTR007 Vitreoretinopathy 46
267 VNZ002 Venezuelan Equine Encephalitis 46
268 P DVL012 Developmental Dysplasia of the Hip 1 46
269 c DRR009 Diarrhea 6 45
270 c JBR015 Joubert Syndrome 6 45
271 c LBR013 Leber Congenital Amaurosis 3 45
272 P WHT013 White Sponge Nevus 1 45
273 c TYP028 Type 1 Diabetes Mellitus 2 45
274 JVN033 Juvenile Nasopharyngeal Angiofibroma 45
275 THR013 Thoracic Outlet Syndrome 45
276 MCR225 Macrophage Activation Syndrome 45
277 PHS014 Phosphoglycerate Kinase 1 Deficiency 45
278 c LNG051 Long Qt Syndrome 6 45
279 DRG026 Drug Reaction with Eosinophilia and Systemic Symptoms 45
280 URM005 Uremic Pruritus 45
281 P TRM004 Trimethylaminuria 45
282 STS002 Situs Inversus 45
283 SNG007 Sengers Syndrome 45
284 c XFP001 Xfe Progeroid Syndrome 45
285 TRS021 Triosephosphate Isomerase Deficiency 45
286 c ACR116 Aicardi-Goutieres Syndrome 1 45
287 HSD004 Hsd10 Mitochondrial Disease 45
288 PTT037 Pituitary Tumors 44
289 P GNG009 Gangliosidosis 44
290 LCK001 Locked-in Syndrome 44
291 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44
292 c SCH079 Schizophrenia 1 44
293 MNG006 Monogenic Diabetes 44
294 MCR103 Microtia 44
295 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 44
296 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 44
297 P PSD003 Pseudohypoaldosteronism 44
298 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
299 P DSR090 Disorder of Sexual Development 44
300 RNS001 Raine Syndrome 44
301 c MCR137 Microphthalmia, Isolated 2 44
302 MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44
303 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 44
304 RDC006 Red Cell Aplasia 44
305 P HRD018 Hair Disease 44
306 c HRD142 Hereditary Xanthinuria 43
307 HYD001 Hydranencephaly 43
308 PMP004 Pemphigus Foliaceus 43
309 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 43
310 P FBR003 Fibrous Histiocytoma 43
311 HMF009 Hemifacial Hyperplasia 43
312 HTR003 Heterotaxy 43
313 PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 43
314 CHN010 Chondroma 43
315 CYT002 Cytokine Deficiency 43
316 c HYP575 Hypotrichosis 7 43
317 c PSR028 Psoriasis 7 43
318 DSC009 Discoid Lupus Erythematosus 43
319 c HYP507 Hypotrichosis 1 43
320 PLN005 Palindromic Rheumatism 43
321 P HRT035 Heart Block, Congenital 43
322 P HYP121 Hypoalphalipoproteinemia 43
323 c SPH013 Spherocytosis, Type 1 42
324 P BRT047 Brittle Cornea Syndrome 42
325 BP1002 Bap1 Tumor Predisposition Syndrome 42
326 BTN002 Boutonneuse Fever 42
327 SRR001 Serrated Polyposis Syndrome 42
328 c CNG513 Congenital Ptosis 42
329 c NGH007 Night Blindness, Congenital Stationary, Type 1b 42
330 MTH078 Methylmalonic Aciduria, Cblb Type 42
331 PRS115 Prosthetic Joint Infection 42
332 GLT005 Glutamate Formiminotransferase Deficiency 42
333 GRN017 Granulocytopenia 42
334 CLF056 Cleft Lip with or Without Cleft Palate 42
335 NNS002 Nonspecific Interstitial Pneumonia 42
336 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 42
337 FBR019 Fibromatosis 42
338 PCH007 Pouchitis 42
339 c JBR016 Joubert Syndrome 10 42
340 P HYP087 Hypotrichosis 42
341 c LNG053 Long Qt Syndrome 9 42
342 IND002 Indolent Systemic Mastocytosis 42
343 SCR039 Scorpion Envenomation 41
344 c PST041 Posterior Urethral Valves 41
345 PRK003 Parkes Weber Syndrome 41
346 P KLZ004 Kala-Azar 1 41
347 PTC001 Potocki-Shaffer Syndrome 41
348 HMH004 Hemihyperplasia, Isolated 41
349 HMP009 Haemophilus Influenzae 41
350 IDP033 Idiopathic Edema 41
351 MYC069 Myoclonic-Astastic Epilepsy 41
352 ANP009 Anaplastic Oligodendroglioma 41
353 ATP013 Atopic Keratoconjunctivitis 41
354 BNS003 Binswanger's Disease 41
355 c LNG056 Long Qt Syndrome 12 41
356 SCH037 Schinzel-Giedion Midface Retraction Syndrome 41
357 P SPS008 Spastic Ataxia 41
358 VNC001 Von Economo's Disease 41
359 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 41
360 CLP005 Ciliopathy 41
361 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 41
362 c HMC034 Hemochromatosis, Type 5 41
363 PLL008 Pallister-Killian Syndrome 41
364 c BRT038 Baraitser-Winter Syndrome 1 41
365 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 41
366 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
367 FBR023 Fibrinogen Deficiency, Congenital 41
368 c ART104 Arthrogryposis, Distal, Type 5d 41
369 P HYP347 Hypotonia-Cystinuria Syndrome 41
370 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 41
371 P SCL057 Scoliosis, Isolated 1 40
372 SPS004 Spastic Quadriplegia 40
373 OCH001 Ochronosis 40
374 ESN002 Eosinophilia-Myalgia Syndrome 40
375 c ACT249 Acute Asthma 40
376 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
377 c CNG198 Congenital Disorder of Glycosylation, Type Il 40
378 DPH019 Diaphanospondylodysostosis 40
379 IDP073 Idiopathic Hypercalciuria 40
380 P MCR364 Macrodactyly 40
381 CHR518 Chromosome 9p Deletion Syndrome 40
382 c MYP080 Myopathy, Myofibrillar, 4 40
383 MNT058 Mental Retardation, X-Linked, Syndromic, Turner Type 40
384 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40
385 IVC001 Ivic Syndrome 40
386 c HYP581 Hypotrichosis 6 40
387 PLG004 Plagiocephaly 40
388 BTR002 Beta-Ureidopropionase Deficiency 40
389 P PRK101 Parkinsonism-Dystonia, Infantile, 1 40
390 c LNG057 Long Qt Syndrome 13 40
391 c SPH016 Spherocytosis, Type 4 39
392 ORN001 Ornithosis 39
393 PRM056 Primrose Syndrome 39
394 c ATS307 Autosomal Recessive Cerebellar Ataxia 39
395 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
396 IDP064 Idiopathic Neutropenia 39
397 MNS001 Mansonelliasis 39
398 KRT063 Keratocystic Odontogenic Tumor 39
399 MTH046 Methylmalonic Acidemia Without Homocystinuria 39
400 CRV045 Cervical Intraepithelial Neoplasia 39
401 HMM004 Hamamy Syndrome 39
402 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 39
403 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
404 MYS004 Myiasis 39
405 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
406 AP4001 Ap-4-Associated Hereditary Spastic Paraplegia 38
407 PMP002 Pemphigoid Gestationis 38
408 c PTT042 Pitt-Hopkins-Like Syndrome 38
409 SPS019 Spastic Paraparesis 38
410 c CTR130 Cataract 9, Multiple Types 38
411 WLL004 Wallerian Degeneration 38
412 c PRM092 Primary Lateral Sclerosis, Adult, 1 38
413 c 2HY001 2-Hydroxyglutaric Aciduria 38
414 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 38
415 c HYP559 Hypotrichosis 8 38
416 CLF028 Cleft Soft Palate 38
417 WBR001 Weber Syndrome 38
418 HMF008 Hemifacial Atrophy, Progressive 38
419 TRG019 Trigonocephaly with Short Stature and Developmental Delay 38
420 c ACT159 Acute Transverse Myelitis 38
421 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
422 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 38
423 SPN119 Spondylarthropathy 38
424 FBR064 Febrile Infection-Related Epilepsy Syndrome 38
425 c CRN209 Cornelia De Lange Syndrome 5 37
426 c AGM023 Agammaglobulinemia 4, Autosomal Recessive 37
427 MTH047 Methanol Poisoning 37
428 P NNT042 Neonatal Lupus Erythematosus 37
429 c PLL017 Pallister-Hall-Like Syndrome 37
430 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 37
431 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 37
432 c MCR109 Microphthalmia, Isolated 4 37
433 c BRD045 Bardet-Biedl Syndrome 19 37
434 c STS007 Sotos Syndrome 2 37
435 PTT045 Pituitary Hormone Deficiency, Combined, 1 37
436 PHS022 Phosphoserine Phosphatase Deficiency 37
437 SYN086 Synostoses, Tarsal, Carpal, and Digital 37
438 CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37
439 CRT055 Creatine Deficiency Syndromes 37
440 c CHR091 Chronic Meningitis 37
441 CHY005 Chylothorax, Congenital 37
442 P XNT004 Xanthinuria 37
443 RVL002 Ruvalcaba Syndrome 37
444 VLV042 Vulvar Vestibulitis Syndrome 37
445 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
446 c MCL044 Macular Degeneration, Age-Related, 9 37
447 c CNR016 Cone-Rod Dystrophy 7 37
448 MLN011 Malonyl-Coa Decarboxylase Deficiency 37
449 c RTN052 Retinitis Pigmentosa 23 37
450 c DMN021 Diamond-Blackfan Anemia 6 37
451 c ELL005 Elliptocytosis 2 37
452 NRW001 Norwegian Scabies 36
453 c SCK029 Seckel Syndrome 7 36
454 END072 Endotheliitis 36
455 c RTN159 Retinitis Pigmentosa 45 36
456 MYT003 Myotonic Disease 36
457 PST086 Posterior Cortical Atrophy 36
458 PTT063 Pattern Dystrophy 36
459 CMB015 Combined Oxidative Phosphorylation Deficiency 4 36
460 MYC017 Mycobacterium Kansasii 36
461 SPN438 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 36
462 P ANT061 Antenatal Bartter Syndrome 36
463 CHR502 Chromosome 17q12 Duplication Syndrome 36
464 c NGH027 Night Blindness, Congenital Stationary, Type 1c 36
465 c CHR020 Chronic Interstitial Cystitis 36
466 TRP020 Tropical Endomyocardial Fibrosis 36
467 c CNT101 Central Congenital Hypothyroidism 36
468 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
469 SPC031 Specific Learning Disability 36
470 c HYP525 Hypotrichosis 2 36
471 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 36
472 BLP004 Blepharophimosis 36
473 SHW001 Shwartzman Phenomenon 36
474 ISL087 Isolated Oxycephaly 36
475 P CNG048 Congenital Hepatic Fibrosis 36
476 INT020 Intravenous Leiomyomatosis 36
477 NTR011 Neutrophil-Specific Granule Deficiency 36
478 CHR704 Chromosome 16p11.2 Deletion Syndrome 36
479 c ATM022 Autoimmune Myocarditis 36
480 PYG006 Pyogenic Granuloma 36
481 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 36
482 CNT057 Central Centrifugal Cicatricial Alopecia 36
483 c INF076 Inflammatory Bowel Disease 18 36
484 P CNG024 Congenital Nystagmus 36
485 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 36
486 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
487 FCH002 Fuchs' Heterochromic Uveitis 35
488 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 35
489 c BRC062 Brachydactyly, Type D 35
490 OPH002 Ophthalmia Neonatorum 35
491 P MTP005 Metaphyseal Anadysplasia 35
492 c ACR091 Aicardi-Goutieres Syndrome 4 35
493 TYP026 Typical Congenital Nemaline Myopathy 35
494 c CTR111 Cataract 36 35
495 ALZ030 Alazami Syndrome 35
496 RTC012 Reticuloendotheliosis, X-Linked 35
497 GLM044 Glomerular Disease 35
498 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
499 MTC008 Mitochondrial Complex Iii Deficiency 35
500 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 35
501 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 35
502 c RTN171 Retinitis Pigmentosa 59 35
503 c RTN036 Retinal Cone Dystrophy 4 35
504 HYP231 Hypothalamic Hamartomas 35
505 P MYC026 Myoclonus Epilepsy 35
506 MTG002 Mutagen Sensitivity 35
507 SPT024 Spotted Fever Rickettsiosis 35
508 CMB016 Combined Oxidative Phosphorylation Deficiency 5 35
509 c CNR025 Cone-Rod Dystrophy 15 35
510 c ATM045 Autoimmune Glomerulonephritis 35
511 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
512 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 35
513 STR077 Streptococcal Toxic-Shock Syndrome 35
514 c FNC059 Fanconi-Like Syndrome 35
515 PRP093 Pierpont Syndrome 35
516 c HYP716 Hypermanganesemia with Dystonia 1 34
517 RCK002 Rocky Mountain Spotted Fever 34
518 P HYP700 Hypomyelinating Leukodystrophy 34
519 c SBC035 Subacute Cutaneous Lupus Erythematosus 34
520 c CLR059 Ciliary Dyskinesia, Primary, 13 34
521 LPB001 Lipoblastoma 34
522 CLC011 Cloacal Exstrophy 34
523 LSN002 Loose Anagen Hair Syndrome 34
524 HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 34
525 CRD016 Cardiac Rupture 34
526 MNN021 Meningococcemia 34
527 HMM005 Hemimelia 34
528 P BRT040 Baraitser-Winter Syndrome 34
529 CLD011 Cold Urticaria 34
530 FXD003 Fixed Drug Eruption 34
531 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 34
532 GNT006 Giant Papillary Conjunctivitis 34
533 P ENT005 Entropion 34
534 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 34
535 CMP040 Complement Component 4, Partial Deficiency of 34
536 CMB043 Combined Oxidative Phosphorylation Deficiency 9 34
537 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 34
538 P CHR084 Chromosomal Disease 34
539 MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34
540 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
541 c STS011 Sitosterolemia 2 34
542 ATH010 Athyreosis 34
543 HMP018 Hemophilic Arthropathy 34
544 LMN011 Laminopathy 34
545 CHR178 Chromosomal Triplication 34
546 c BRC060 Brachydactyly, Type E2 34
547 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
548 WTT002 Witteveen-Kolk Syndrome 34
549 c RTN152 Retinitis Pigmentosa 66 33
550 PRX005 Peroxisomal Biogenesis Disorder 33
551 c SPN102 Spinocerebellar Ataxia 30 33
552 c ACR092 Aicardi-Goutieres Syndrome 5 33
553 FST010 Fasting Hypoglycemia 33
554 MYP035 Myopathy, Distal, with Anterior Tibial Onset 33
555 c RST012 Restless Legs Syndrome 1 33
556 P CXV002 Coxa Vara 33
557 FML330 Familial Lcat Deficiency 33
558 c ART060 Arthrogryposis, Distal, Type 1b 33
559 LCH013 Lichen Planus Pemphigoides 33
560 c SPS092 Spastic Paraplegia 11 33
561 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 33
562 P RDC010 Reducing Body Myopathy 33
563 STC004 Stachybotrys Chartarum 33
564 GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 33
565 ELS002 Elastosis Perforans Serpiginosa 33
566 ATY003 Atypical Autism 33
567 CHR362 Chromosome 17q21.31 Duplication Syndrome 33
568 CRN302 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 33
569 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 33
570 RMN001 Rumination Disorder 33
571 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
572 AMR003 Amaurosis Fugax 33
573 NNS011 Nonseminomatous Germ Cell Tumor 33
574 c WLL040 Weill-Marchesani Syndrome 4 33
575 c HYP577 Hypotrichosis 13 33
576 TXC020 Toxic Oil Syndrome 33
577 TKN001 Takenouchi-Kosaki Syndrome 33
578 HNS001 Hansen's Disease 32
579 MSC020 Mosaic Trisomy 8 32
580 CLF049 Cleft Lip and Alveolus 32
581 FML168 Familial Isolated Pituitary Adenoma 32
582 P DSB002 Desbuquois Dysplasia 32
583 BRN133 Bronchomalacia 32
584 SGR001 Sugarman Brachydactyly 32
585 CMB077 Combined Oxidative Phosphorylation Deficiency 30 32
586 c CLR056 Ciliary Dyskinesia, Primary, 10 32
587 PRG023 Progeroid Short Stature with Pigmented Nevi 32
588 MTC019 Metachromatic Leukodystrophy Due to Saposin B Deficiency 32
589 c HRD220 Hereditary Spastic Paraplegia 30 32
590 BWN006 Bowen's Disease 32
591 PRX097 Paroxysmal Dystonia 32
592 P DYS023 Dyschromatosis Universalis Hereditaria 32
593 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 32
594 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
595 c SLV028 Silver-Russell Syndrome 3 32
596 c PRM316 Primary Congenital Hypothyroidism 32
597 P SCP010 Scapuloperoneal Myopathy 32
598 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 32
599 WST010 West Nile Virus Infection 32
600 c EPL188 Epilepsy, Progressive Myoclonic, 10 32
601 SCL025 Scleromyxedema 32
602 c ATX033 Ataxia-Oculomotor Apraxia 4 32
603 c HYP576 Hypotrichosis 4 32
604 MTH086 Methotrexate Toxicity 32
605 NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 32
606 ASC009 Ascites, Chylous 32
607 THM005 Thumb Deformity 32
608 ATN021 Autoinflammatory Syndrome 32
609 HVR001 Haverhill Fever 32
610 c ADL015 Adult Liposarcoma 32
611 SMT007 Smith-Fineman-Myers Syndrome 32
612 MXL016 Maxillonasal Dysplasia, Binder Type 32
613 PST044 Postorgasmic Illness Syndrome 32
614 c CNR003 Cone-Rod Dystrophy 1 31
615 P PRC050 Pericardium Disease 31
616 c JVN034 Juvenile Polyposis of Infancy 31
617 ORF053 Orofacial Clefting Syndrome 31
618 PPL050 Papillary Tumor of the Pineal Region 31
619 DYS001 Dyskinetic Cerebral Palsy 31
620 ODN005 Odontogenic Myxoma 31
621 INF046 Infantile Digital Fibromatosis 31
622 PTN004 Patent Ductus Venosus 31
623 PYR025 Pyruvate Dehydrogenase E2 Deficiency 31
624 MCP039 Mucoepithelial Dysplasia, Hereditary 31
625 PST103 Postpartum Psychosis 31
626 CHR386 Chromosome 6pter-P24 Deletion Syndrome 31
627 c RNG017 Ring Chromosome 21 31
628 c PRM026 Primary Systemic Mycosis 31
629 c HYD040 Hydrolethalus Syndrome 2 31
630 P PLY188 Polyendocrinopathy 31
631 c SPN203 Spinocerebellar Ataxia, X-Linked 5 31
632 c PRX057 Peroxisome Biogenesis Disorder 4a 31
633 HMN002 Human Granulocytic Anaplasmosis 31
634 CRR001 Carrion's Disease 31
635 THY098 Thyroid Ectopia 31
636 CHR523 Chromosome 15q11.2 Deletion Syndrome 31
637 ERL027 Early-Onset Non-Syndromic Cataract 31
638 SRC011 Sarcocystosis 31
639 AGM004 Agammaglobulinemia, Non-Bruton Type 31
640 c DSB005 Desbuquois Dysplasia 2 30
641 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
642 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 30
643 INT104 Intravascular Papillary Endothelial Hyperplasia 30
644 CCN009 Cocaine Intoxication 30
645 LYS029 Lysosomal Disease 30
646 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 30
647 c PRM015 Primary Cerebellar Degeneration 30
648 OSC001 Oeis Complex 30
649 c CNG478 Congenital Diarrhea 30
650 EXN003 Exencephaly 30
651 48X003 48,xxyy Syndrome 30
652 c ATM068 Autoimmune Hypoparathyroidism 30
653 c CNR030 Cone-Rod Dystrophy 20 30
654 c BRD051 Bardet-Biedl Syndrome 20 30
655 TRC035 Tracheal Agenesis 30
656 c GLL040 Galloway-Mowat Syndrome 3 30
657 CPP003 Cap Polyposis 30
658 SNG003 Single Ventricular Heart 30
659 c FRD006 Friedreich Ataxia 2 30
660 CDK006 Cdkl5 Deficiency Disorder 30
661 P EPL003 Epulis 30
662 c BRC099 Brachydactyly, Type A4 30
663 ACT228 Acute Radiation Syndrome 30
664 SPR034 Superior Limbic Keratoconjunctivitis 30
665 c ACQ047 Acquired Methemoglobinemia 30
666 c ACQ016 Acquired Pure Red Cell Aplasia 30
667 c CLR134 Ciliary Dyskinesia, Primary, 3 30
668 IDP041 Idiopathic Recurrent Pericarditis 30
669 P HRD214 Hereditary Periodic Fever Syndrome 30
670 PNT003 Pinta Disease 30
671 P HRD209 Hereditary Angioedema with Normal C1inh 30
672 CND006 Candida Glabrata 30
673 ATY016 Atypical Werner Syndrome 29
674 LPD026 Lipedema 29
675 STT009 Sutton Disease 2 29
676 SKR001 Skraban-Deardorff Syndrome 29
677 PRC051 Paracetamol Poisoning 29
678 c HYP515 Hypotrichosis 3 29
679 c EXD010 Exudative Vitreoretinopathy 6 29
680 PYR016 Pyridoxine Deficiency 29
681 c MCL059 Macular Dystrophy, Patterned, 1 29
682 P MTR051 Maternal Uniparental Disomy of Chromosome 1 29
683 QLT008 Qualitative or Quantitative Defects of Dysferlin 29
684 MLT116 Multiple System Atrophy, Parkinsonian Type 29
685 CHR582 Chromosome 3q29 Duplication Syndrome 29
686 MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 29
687 c HYP528 Hypotrichosis 11 29
688 CHL078 Childhood-Onset Schizophrenia 29
689 LJH001 Lujo Hemorrhagic Fever 29
690 CMB013 Combined Oxidative Phosphorylation Deficiency 2 29
691 c PRR021 Perrault Syndrome 4 29
692 ANR010 Aneurysm of Sinus of Valsalva 29
693 GNT019 Giant Cell Myocarditis 29
694 ODN006 Odontoma 29
695 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
696 MYC014 Mycobacterium Chelonae 29
697 LPG001 Lipogranulomatosis 29
698 c RTN149 Retinitis Pigmentosa 42 29
699 c INF185 Infantile Epilepsy Syndrome 29
700 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29
701 P CHR200 Chromosome 16 Trisomy 29
702 ETH012 Ethylene Glycol Poisoning 29
703 MYC019 Mycobacterium Marinum 29
704 SLR005 Solar Urticaria 29
705 HYM001 Hymenolepiasis 29
706 c PSR034 Psoriasis 15 29
707 c ERL003 Early Onset Absence Epilepsy 29
708 CHR229 Chromosome 20p Duplication 29
709 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 29
710 PLT007 Palatopharyngeal Incompetence 29
711 MYP064 Myopericytoma 29
712 c ACT047 Acute Endophthalmitis 29
713 P ERL043 Early-Onset Nuclear Cataract 29
714 c RDL040 Radioulnar Synostosis, Nonsyndromic 29
715 c GLC100 Glaucoma 1, Open Angle, D 29
716 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 29
717 FRS007 Frias Syndrome 29
718 OVR097 Ovarian Fibrothecoma 28
719 BJL001 Bejel 28
720 CRN051 Craniofacial Microsomia 28
721 ARG006 Aregenerative Anemia 28
722 c AMY081 Amyotrophic Lateral Sclerosis Type 12 28
723 c ART131 Arthrogryposis, Distal, Type 4 28
724 CHR281 Chronic Hiccups 28
725 c RTN117 Retinitis Pigmentosa 57 28
726 PSD046 Pseudotrisomy 13 Syndrome 28
727 P HYP658 Hypoplastic Amelogenesis Imperfecta 28
728 SNC001 Sunct Headache 28
729 c EPS037 Episodic Ataxia, Type 4 28
730 P ADL037 Adult Xanthogranuloma 28
731 c EPS015 Episodic Ataxia, Type 7 28
732 PTT016 Patterson Pseudoleprechaunism Syndrome 28
733 PRQ002 Paraquat Poisoning 28
734 c PST008 Posterior Scleritis 28
735 c RNG024 Ring Chromosome 8 28
736 MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 28
737 NVS007 Nevus of Ota 28
738 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
739 c INF089 Inflammatory Bowel Disease 6 28
740 ENC014 Enchondroma 28
741 CHR399 Chromosome 4q21 Deletion Syndrome 28
742 XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 28
743 CLC010 Calcifying Epithelial Odontogenic Tumor 28
744 LCH014 Lichen Amyloidosis 28
745 c ATS209 Autosomal Dominant Secondary Polycythemia 28
746 ACD011 Acid Phosphatase Deficiency 28
747 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 28
748 CLV004 Calvarial Hyperostosis 28
749 UVL009 Uvula, Bifid 28
750 PNT001 Pontiac Fever 28
751 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 28
752 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
753 MST020 Mast Cell Activation Syndrome 28
754 PSD030 Pseudodiastrophic Dysplasia 28
755 ANG050 Angiocentric Glioma 28
756 FGS002 Fg Syndrome 2 28
757 KRB005 Krabbe Disease, Atypical, Due to Saposin a Deficiency 28
758 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
759 HYP021 Hypercementosis 28
760 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
761 CNG506 Congenital Amyoplasia 27
762 CHR270 Chromosome 9p Duplication 27
763 c MRG011 Meier-Gorlin Syndrome 4 27
764 HSH004 Hashimoto Encephalopathy 27
765 CHR265 Chromosome 8p Duplication 27
766 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 27
767 c CLR091 Ciliary Dyskinesia, Primary, 14 27
768 STR033 Storm Syndrome 27
769 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
770 TRC038 Tracheobronchomegaly 27
771 c PRX062 Peroxisome Biogenesis Disorder 8b 27
772 16Q001 16q24.3 Microdeletion Syndrome 27
773 P BLT016 Bilateral Polymicrogyria 27
774 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
775 c RNG007 Ring Chromosome 12 27
776 SPN340 Spontaneous Intracranial Hypotension 27
777 GLT028 Glutaric Aciduria Iii 27
778 c SCH084 Schizophrenia 8 27
779 c SPS062 Spastic Paraplegia 34, X-Linked 27
780 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 27
781 WLL012 Williams-Beuren Region Duplication Syndrome 27
782 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 27
783 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
784 PRS120 Persistent Idiopathic Facial Pain 27
785 PMP008 Pemphigus Vegetans 27
786 HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 27
787 c ACQ029 Acquired Porencephaly 27
788 NBL001 Nablus Mask-Like Facial Syndrome 27
789 INF118 Inflammatory Myopathy with Abundant Macrophages 27
790 GLC001 Glaucomatocyclitic Crisis 27
791 CHR190 Chromosome 12p Duplication 27
792 48X001 48, Xxxx 27
793 PDT027 Pediatric Ulcerative Colitis 27
794 PRX086 Paroxysmal Exertion-Induced Dyskinesia 27
795 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 27
796 ACR099 Acrofacial Dysostosis, Catania Type 27
797 MCR310 Microgastria-Limb Reduction Defects Association 27
798 c RTN053 Retinitis Pigmentosa 24 27
799 CMP093 Complement Component 8 Deficiency, Type I 26
800 HYP180 Hypertrichosis Lanuginosa Congenita 26
801 RTB001 Rat Bite Fever 26
802 NCR001 Necrotizing Ulcerative Gingivitis 26
803 ARG004 Argyria 26
804 SPS090 Sepsis in Premature Infants 26
805 ISL084 Isolated Trigonocephaly 26
806 RFR007 Refractory Anemia with Excess Blasts in Transformation 26
807 CMP017 Camptocormism 26
808 c ALZ059 Alzheimer Disease 13 26
809 ENG004 Engraftment Syndrome 26
810 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
811 FRN014 Fournier Gangrene 26
812 c RTN116 Retinitis Pigmentosa 56 26
813 ASS004 Aase-Smith Syndrome I 26
814 WRT003 Warthin Tumor 26
815 c XLN065 X-Linked Infantile Nystagmus 26
816 CRL001 Cerulean Cataract 26
817 NKJ001 Nakajo Syndrome 26
818 CHR248 Chromosome 4p Duplication 26
819 STR093 Striatonigral Degeneration, Childhood-Onset 26
820 CRN273 Corneal Dystrophy, Subepithelial Mucinous 26
821 HMF010 Hemifacial Microsomia with Radial Defects 26
822 STN013 Stenotrophomonas Maltophilia Infection 26
823 HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 26
824 FBR083 Fibrous Dysplasia/mccune-Albright Syndrome 26
825 STR007 Stress Polycythemia 26
826 c SLV029 Silver-Russell Syndrome 2 26
827 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
828 FNC050 Functioning Gonadotropic Adenoma 26
829 P IDP090 Idiopathic Eosinophilic Pneumonia 26
830 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 26
831 KLB004 Klebsiella Infection 26
832 MYC018 Mycobacterium Malmoense 26
833 P HYP821 Hypermanganesemia with Dystonia 26
834 CYT018 Cytochrome P450 2d6 Variant 26
835 c LTH047 Lethal Congenital Contracture Syndrome 3 26
836 c RNG005 Ring Chromosome 10 26
837 c 46X047 46,xy Sex Reversal 7 26
838 OCC011 Occipital Encephalocele 26
839 DGT002 Digital Clubbing, Isolated Congenital 26
840 PRM315 Permanent Congenital Hypothyroidism 26
841 c GLY093 Glycogen Storage Disease Ixa 26
842 HMC001 Homocarnosinosis 26
843 CHR266 Chromosome 8p23.1 Deletion 26
844 NCR009 Necrobiotic Xanthogranuloma 26
845 c CLR123 Ciliary Dyskinesia, Primary, 37 26
846 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
847 c FRN037 Frontal Encephalocele 25
848 c CHR565 Chromosomal Deletion Syndrome 25
849 ART030 Aortic Arch Interruption 25
850 P PRR032 Pura-Related Neurodevelopmental Disorders 25
851 P ACT241 Acute Bilirubin Encephalopathy 25
852 c ART157 Arthrogryposis, Distal, Type 2b3 25
853 OLG014 Oligocone Trichromacy 25
854 CRN042 Carnosinemia 25
855 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 25
856 PLS031 Plastic Bronchitis 25
857 AML011 Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 25
858 NRL008 Neural Crest Tumor 25
859 ATR048 Atrial Tachyarrhythmia with Short Pr Interval 25
860 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 25
861 c SYN064 Syndromic X-Linked Intellectual Disability 25
862 c MLT078 Multiple Synostoses Syndrome 3 25
863 P CRY006 Cryofibrinogenemia 25
864 MLT105 Multiple System Atrophy, Cerebellar Type 25
865 P SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 25
866 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 25
867 CNG065 Congenital Contractures 25
868 CLB009 Coloboma of Iris 25
869 HRD037 Hardikar Syndrome 25
870 PSD026 Pseudoainhum 25
871 c CHL114 Chilblain Lupus 2 25
872 c ANM032 Anemia, Sideroblastic, 3, Pyridoxine-Refractory 25
873 HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25
874 c JVN058 Juvenile-Onset Parkinson's Disease 25
875 c INF092 Inflammatory Bowel Disease 9 25
876 c DRR018 Diarrhea 9 25
877 c OTS005 Otosclerosis 1 25
878 c RTN063 Retinitis Pigmentosa 34 25
879 c DYS139 Dyschromatosis Universalis Hereditaria 3 25
880 RNG030 Ringed Hair 25
881 GGN004 Gigantomastia 25
882 SPC030 Specific Language Disorder 25
883 CRY010 Cryptophthalmos 25
884 c CTR105 Cataract 12, Multiple Types 25
885 c BRC053 Brachyolmia Type 2 25
886 FKY002 Fukuyama Type Muscular Dystrophy 25
887 ATH004 Athetosis 25
888 c ART156 Arthrogryposis, Distal, Type 2b2 25
889 OCL030 Oculoauriculofrontonasal Syndrome 25
890 DYT005 Dyt-Thap1 25
891 FBR085 Fibrillary Glomerulonephritis 25
892 c CHR449 Choroidal Dystrophy, Central Areolar 2 24
893 c PSR031 Psoriasis 10 24
894 c DVL073 Developmental and Epileptic Encephalopathy 48 24
895 DFC001 Defective Apolipoprotein B-100 24
896 c CFF006 Coffin-Siris Syndrome 5 24
897 c DYS090 Dyschromatosis Universalis Hereditaria 1 24
898 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 24
899 MYC001 Myoclonic Cerebellar Dyssynergia 24
900 HYP267 Hyperchlorhidrosis, Isolated 24
901 NN2002 Non 24 Hour Sleep Wake Disorder 24
902 c JVN047 Juvenile Spondyloarthropathy 24
903 c HRM020 Hermansky-Pudlak Syndrome 10 24
904 BRT037 Brittle Diabetes 24
905 KCN010 Kcnq2-Related Disorders 24
906 ANP007 Anaplastic Ganglioglioma 24
907 c ATS370 Autism 3 24
908 PRM050 Primary Orthostatic Tremor 24
909 OVR098 Ovarian Fibroma 24
910 END051 Endolymphatic Sac Tumor 24
911 GYN003 Gynandroblastoma 24
912 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 24
913 OSP001 Oesophagostomiasis 24
914 SCH055 Schilbach-Rott Syndrome 24
915 c ATS365 Autism X-Linked 1 24
916 CMB065 Combined Oxidative Phosphorylation Deficiency 26 24
917 P PPL026 Papular Mucinosis 24
918 CNG092 Congenital Extrahepatic Portosystemic Shunt 24
919 CHR252 Chromosome 5p Duplication 24
920 c PLT022 Pili Torti, Early-Onset 24
921 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 24
922 c JBR039 Joubert Syndrome 28 24
923 DHY008 Dihydroxyadeninuria 24
924 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 24
925 HMP028 Hemophagocytic Syndrome Associated with an Infection 24
926 MXD032 Mixed Germ Cell Tumor 24
927 CHR369 Chromosome Xq28 Duplication Syndrome 24
928 ACT094 Acute Articular Rheumatism 24
929 c HTR023 Heterotaxy, Visceral, 6, Autosomal 24
930 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
931 ESN022 Eosinophilic Colitis 24
932 CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 24
933 CMP041 Complement Factor D Deficiency 24
934 c ATS432 Autosomal Dominant Distal Myopathy 24
935 MCR039 Macrophagic Myofasciitis 24
936 c SLV031 Silver-Russell Syndrome 5 24
937 HYP642 Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency 24
938 FNT003 Fountain Syndrome 24
939 c SCH061 Schizophrenia 16 24
940 PRT085 Peritoneal Cystic Mesothelioma 24
941 OCL070 Oculopalatocerebral Syndrome 24
942 CHR247 Chromosome 4p Deletion 23
943 MMM002 Mammary-Digital-Nail Syndrome 23
944 LGP003 Logopenic Progressive Aphasia 23
945 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 23
946 CLC053 Colchicine Poisoning 23
947 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 23
948 P MTC140 Mitochondrial Dna Maintenance Defects 23
949 P PHC014 Phocomelia 23
950 PRT091 Partial Cryptophthalmia 23
951 VNZ001 Venezuelan Hemorrhagic Fever 23
952 LCH008 Lichen Planus Pigmentosus 23
953 NVR001 Nievergelt Syndrome 23
954 TRG006 Trigger Thumb 23
955 c SCH082 Schizophrenia 5 23
956 GLY054 Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency 23
957 RTR012 Retroperitoneal Liposarcoma 23
958 CMP097 Complex Chromosomal Rearrangement 23
959 c DPH016 Diaphragmatic Hernia 3 23
960 SCD003 Scedosporiosis 23
961 WLD006 Wild Type Abeta2m Amyloidosis 23
962 ACL002 Acalvaria 23
963 c CRB217 Cerebellar Ataxia Type 42 23
964 EXR007 Exercise-Induced Anaphylaxis 23
965 RCK003 Rickettsialpox 23
966 c EPP026 Epiphyseal Dysplasia, Multiple, 7 23
967 c DMN029 Diamond-Blackfan Anemia 11 23
968 NNT018 Neonatal Herpes 23
969 c DMN028 Diamond-Blackfan Anemia 12 23
970 BRN129 Branchial Cleft Anomalies 23
971 c SPS027 Spastic Paraplegia 17 23
972 IGG014 Igg4-Related Sclerosing Cholangitis 23
973 c SCK022 Sick Sinus Syndrome 3 23
974 DRG016 Drug Induced Dyskinesia 23
975 CNG418 Congenital Intrauterine Infection-Like Syndrome 23
976 PST040 Posterior Column Ataxia 23
977 c RNG013 Ring Chromosome 18 23
978 LLS001 Lelis Syndrome 23
979 XLN179 X-Linked Intellectual Disability, Turner Type 23
980 c CNR032 Cone-Rod Dystrophy 21 23
981 c MNK006 Menke-Hennekam Syndrome 2 23
982 DYS188 Dyskinesia, Limb and Orofacial, Infantile-Onset 23
983 HRP008 Herpes Simiae 23
984 TRC037 Tracheobronchomalacia 23
985 LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 23
986 c LTH029 Lethal Congenital Contracture Syndrome 9 23
987 ART037 Arthrogryposis and Ectodermal Dysplasia 23
988 EPL011 Epilepsy, Benign Occipital 23
989 c DVL098 Developmental and Epileptic Encephalopathy 74 23
990 c RTN234 Retinitis Pigmentosa 90 23
991 AML005 Amelogenesis Imperfecta Hypomaturation Type 23
992 c JBR047 Joubert Syndrome 35 23
993 c PRC047 Precocious Puberty, Central, 1 23
994 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
995 PRT086 Partial Hydatidiform Mole 23
996 c WLL035 Woolly Hair, Autosomal Recessive 3 23
997 c MTP014 Metaphyseal Anadysplasia 2 23
998 c RDC016 Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 22
999 DSM006 Desmoplastic Infantile Ganglioglioma 22
1000 P SPN236 Spina Bifida Cystica 22
1001 c OMP009 Omphalocele, Autosomal 22
1002 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
1003 c PRR026 Perrault Syndrome 5 22
1004 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 22
1005 c MCL071 Macular Dystrophy, Patterned, 2 22
1006 ATR018 Atrial Septal Defect Ostium Primum 22
1007 HSB001 His Bundle Tachycardia 22
1008 CLC064 Calcifying Aponeurotic Fibroma 22
1009 SNK001 Snakebite Envenomation 22
1010 DMD001 Demodicidosis 22
1011 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 22
1012 NNT021 Neonatal Meningitis 22
1013 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 22
1014 c PRC046 Precocious Puberty, Central, 2 22
1015 HVY002 Heavy Metal Poisoning 22
1016 SDD004 Sudden Arrhythmia Death Syndrome 22
1017 NPH027 Nipah Virus Encephalitis 22
1018 CNG357 Congenital Symblepharon 22
1019 P RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 22
1020 2Q3005 2q31.1 Microdeletion Syndrome 22
1021 c ATR064 Atrioventricular Septal Defect 3 22
1022 c RTN192 Retinitis Pigmentosa 77 22
1023 P MCL058 Macular Degeneration, Early-Onset 22
1024 INT093 Interferon Gamma, Receptor 1, Deficiency 22
1025 CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 22
1026 NWN001 New-Onset Refractory Status Epilepticus 22
1027 P HYD015 Hydroa Vacciniforme 22
1028 TTR021 Tetrasomy 21 22
1029 c NRC017 Narcolepsy 7 22
1030 HYP696 Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome 22
1031 P RTN220 Retinal Ciliopathy 22
1032 UND004 Undetermined Colitis 22
1033 SRP002 Serpiginous Choroiditis 22
1034 ERY023 Erythroplakia 22
1035 c DYS175 Dystonia 26, Myoclonic 22
1036 FWL003 Fowler Urethral Sphincter Dysfunction Syndrome 22
1037 PSD050 Pseudoxanthoma Elasticum, Forme Fruste 22
1038 c CLR107 Ciliary Dyskinesia, Primary, 24 22
1039 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1040 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 22
1041 c TRN047 Transient Congenital Hypothyroidism 22
1042 c ACT229 Acute Necrotizing Encephalopathy Type 1 22
1043 c FRM002 Form Agnosia 22
1044 6QT002 6q Terminal Deletion Syndrome 22
1045 c CHR059 Chronic Endophthalmitis 22
1046 c CFF015 Coffin-Siris Syndrome 10 22
1047 P MYM016 Moyamoya Angiopathy 22
1048 RTN072 Retinohepatoendocrinologic Syndrome 22
1049 c PSR030 Psoriasis 8 22
1050 DPS001 Dipsogenic Diabetes Insipidus 22
1051 c CNG100 Congenital Herpes Simplex 22
1052 CYN003 Cyanide Poisoning 22
1053 8PN001 8p Inverted Duplication/deletion Syndrome 22
1054 FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 22
1055 XLN076 X-Linked Cerebellar Ataxia 21
1056 AND005 Androgen Insensitivity Syndrome, Mild 21
1057 HML018 Homologous Wasting Disease 21
1058 XLN170 X-Linked Mendelian Susceptibility to Mycobacterial Diseases 21
1059 CHR208 Chromosome 17p Deletion 21
1060 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 21
1061 c AGM017 Agammaglobulinemia 8, Autosomal Dominant 21
1062 RDL022 Radial Hemimelia 21
1063 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
1064 c ATM050 Autoimmune Thyroid Disease 3 21
1065 CHR159 Charlie M Syndrome 21
1066 PSY017 Psychogenic Movement Disorders 21
1067 c ATS369 Autism 8 21
1068 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
1069 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 21
1070 c TYP033 Type 1 Diabetes Mellitus 7 21
1071 JMP002 Jumping Frenchmen of Maine 21
1072 c NCL011 Nuclear Gene-Encoded Leigh Syndrome Spectrum 21
1073 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 21
1074 CNG117 Congenital Nonhemolytic Jaundice 21
1075 BNT001 Banti's Syndrome 21
1076 c TYP032 Type 1 Diabetes Mellitus 6 21
1077 c SBC010 Subacute Glomerulonephritis 21
1078 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 21
1079 XLN236 X-Linked Intellectual Disability-Epilepsy Syndrome 21
1080 c EFM001 Efemp2-Related Cutis Laxa 21
1081 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 21
1082 PSD043 Pseudopelade of Brocq 21
1083 c EPL137 Epilepsy, Childhood Absence 6 21
1084 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1085 SYM024 Symphalangism, Distal 21
1086 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
1087 ADN085 Adenylate Kinase Deficiency, Hemolytic Anemia Due to 21
1088 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 21
1089 P FML337 Familial Chilblain Lupus 21
1090 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 21
1091 c CLR088 Ciliary Dyskinesia, Primary, 21 21
1092 HMP027 Hemiparkinsonism-Hemiatrophy Syndrome 21
1093 SPS087 Spasmus Nutans 21
1094 c TYP049 Type 2 Diabetes Mellitus 2 21
1095 c SCN048 Secondary Syringomyelia 21
1096 c SYS038 Systemic Lupus Erythematosus 2 21
1097 c TRM016 Tremor, Hereditary Essential, 3 21
1098 PHK008 Phakomatosis Cesioflammea 20
1099 ATM106 Autoimmune Hemolytic Anemia, Cold Type 20
1100 ORB019 Orbital Margin, Hypoplasia of 20
1101 PLS037 Plasma Cell Tumor 20
1102 DYS038 Dysgnathia Complex 20
1103 GLC025 Galactorrhoea-Hyperprolactinaemia 20
1104 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 20
1105 P PTT054 Patterned Macular Dystrophy 20
1106 ACR107 Acrofacial Dysostosis, Palagonia Type 20
1107 LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 20
1108 P SYN140 Syndrome with 46,xy Disorder of Sex Development 20
1109 c SVR107 Severe Congenital Neutropenia 3 20
1110 GRD004 Gardner-Diamond Syndrome 20
1111 MRC009 Mercaptolactate-Cysteine Disulfiduria 20
1112 CRT061 Cor Triatriatum Dexter 20
1113 PST047 Post-Traumatic Epilepsy 20
1114 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
1115 c SPN403 Spinocerebellar Ataxia, X-Linked 2 20
1116 CGT001 Ciguatera Fish Poisoning 20
1117 c INF080 Inflammatory Bowel Disease 21 20
1118 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 20
1119 ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 20
1120 c SPS171 Spastic Ataxia 5 20
1121 NDD001 Nodding Syndrome 20
1122 c AGM024 Agammaglobulinemia 5, Autosomal Dominant 20
1123 PTY005 Pityriasis Lichenoides Chronica 20
1124 c HYP573 Hypotrichosis 5 20
1125 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 20
1126 VBR003 Vibrio Vulnificus Infection 20
1127 c ZMM004 Zimmermann-Laband Syndrome 3 20
1128 MYC016 Mycobacterium Gordonae 20
1129 BRR004 Baroreflex Failure 20
1130 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 20
1131 c FBR079 Fibromatosis, Gingival, 2 20
1132 c CLR124 Ciliary Dyskinesia, Primary, 34 20
1133 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 20
1134 c ATS474 Autism 20 20
1135 SYN120 Syndromic Oculocutaneous Albinism 20
1136 NND001 Nondystrophic Myotonia 20
1137 DST037 Distal Monosomy 9p 20
1138 PSD084 Pseudo-Meigs Syndrome 20
1139 c SVR103 Severe Congenital Neutropenia 1 20
1140 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1141 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 20
1142 MNC020 Monoclonal Mast Cell Activation Syndrome 20
1143 c MYP141 Myopia 5, Autosomal Dominant 20
1144 c CLL018 Collagen Type Vi-Related Disorders 20
1145 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
1146 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
1147 PLY135 Polydactyly, Postaxial, with Progressive Myopia 20
1148 c DWL004 Dowling-Degos Disease 4 20
1149 ALP088 Alpha-Fetoprotein, Hereditary Persistence of 20
1150 DST059 Distal Trisomy 17q 20
1151 DRG014 Drug-Induced Autoimmune Hemolytic Anemia 20
1152 c RNG021 Ring Chromosome 5 20
1153 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 20
1154 PNH004 Panhypophysitis 20
1155 PRG077 Progressive Nodular Histiocytosis 20
1156 c PNM004 Pneumoconiosis Due to Talc 20
1157 c RTN214 Retinitis Pigmentosa 81 20
1158 NWD001 New Daily-Persistent Headache 20
1159 PRD026 Pre-Descemet Corneal Dystrophy 20
1160 BNG086 Bangstad Syndrome 20
1161 c SPR049 Supranuclear Palsy, Progressive, 2 19
1162 BRC046 Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia 19
1163 NNF008 Non-Functioning Paraganglioma 19
1164 SPN092 Spinal Shock 19
1165 19P001 19p13.12 Microdeletion Syndrome 19
1166 c PRV016 Periventricular Nodular Heterotopia 6 19
1167 c HYP832 Hypotrichosis 14 19
1168 QLT002 Qualitative or Quantitative Defects of Dystrophin 19
1169 c RNG012 Ring Chromosome 17 19
1170 CHR612 Chromosome 15q14 Deletion Syndrome 19
1171 ODN020 Odontoma-Dysphagia Syndrome 19
1172 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 19
1173 c ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 19
1174 c SLV030 Silver-Russell Syndrome 4 19
1175 P CNG515 Congenital Zika Syndrome 19
1176 c ORF050 Orofacial Cleft 2 19
1177 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
1178 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1179 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 19
1180 c STC011 Stickler Syndrome, Type V 19
1181 c LFT020 Left Ventricular Noncompaction 7 19
1182 MYP060 Myopic Macular Degeneration 19
1183 DST011 Distal Chromosome 18q Deletion Syndrome 19
1184 c PRM292 Premature Ovarian Failure 14 19
1185 c PRM253 Premature Ovarian Failure 13 19
1186 P SPN237 Spina Bifida Aperta 19
1187 HYD031 Hydroxyprolinemia 19
1188 DST036 Distal Trisomy 15q 19
1189 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 19
1190 MCR330 Microphthalmia, Isolated, with Cataract 1 19
1191 P CTS012 Cutis Verticis Gyrata 19
1192 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1193 c SPR070 Sporadic Infantile Bilateral Striatal Necrosis 19
1194 MTC033 Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form 19
1195 JNT004 Joint Laxity, Short Stature, and Myopia 19
1196 c HYP578 Hypotrichosis 12 19
1197 IGG015 Igg4-Related Thyroid Disease 19
1198 LMB009 Lambdoid Synostosis 19
1199 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 19
1200 MYC021 Mycobacterium Xenopi 19
1201 c ART168 Arthrogryposis, Distal, Type 1c 19
1202 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
1203 c DMN040 Diamond-Blackfan Anemia 16 19
1204 VGN031 Vaginal Atresia 19
1205 RTN185 Retinal Dysplasia, Primary 19
1206 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
1207 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 19
1208 c STS009 Sotos Syndrome 3 19
1209 VLV046 Vulvovaginal Gingival Syndrome 19
1210 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
1211 c INF079 Inflammatory Bowel Disease 20 19
1212 EXT061 Extracardiac Rhabdomyoma 19
1213 OTP003 Oto-Palatal-Digital Syndrome 19
1214 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 19
1215 CHL084 Cholesterol Pneumonia 19
1216 DSS012 Disseminated Infection with Mycobacterium Avium Complex 19
1217 HMF007 Hemifacial Hyperplasia with Strabismus 19
1218 c INF084 Inflammatory Bowel Disease 26 19
1219 c INF081 Inflammatory Bowel Disease 22 18
1220 IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 18
1221 c ECT114 Ectodermal Dysplasia 10b 18
1222 CYT006 Cytoplasmic Body Myopathy 18
1223 c NNN032 Non-Infectious Posterior Uveitis 18
1224 LNR010 Linear Lichen Planus 18
1225 CRY024 Crystal Arthropathies 18
1226 PYT001 Pythiosis 18
1227 SBR012 Subaortic Stenosis, Membranous 18
1228 STC008 Stocco Dos Santos Syndrome 18
1229 c EPL009 Epilepsy Progressive Myoclonic Type 3 18
1230 STN005 St Anthony's Fire 18
1231 c BRN073 Branchiootic Syndrome 2 18
1232 P RFR014 Refractory Anemia with Excess Blasts Type 2 18
1233 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18
1234 HRP026 Herpetiform Pemphigus 18
1235 PRX013 Proximal Chromosome 18q Deletion Syndrome 18
1236 c OCL081 Oculocutaneous Albinism, Type Viii 18
1237 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 18
1238 AML012 Ameloonychohypohidrotic Syndrome 18
1239 LYS028 Lysosomal Glycogen Storage Disease 18
1240 CYT017 Cytophagic Histiocytic Panniculitis 18
1241 GRW021 Growing Teratoma Syndrome 18
1242 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 18
1243 PSD079 Pseudoangiomatous Stromal Hyperplasia 18
1244 BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 18
1245 LJN002 Lujan Syndrome 18
1246 KRT077 Keratinopathic Ichthyosis 18
1247 c ANR046 Aniridia 3 18
1248 ALP072 Alpha-Fetoprotein Deficiency 18
1249 FRN028 Furunculous Myiasis 18
1250 CTR009 Cataract Congenital Dominant Non Nuclear 18
1251 IQS001 Iqsec2 18
1252 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 18
1253 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 18
1254 c CLR141 Ciliary Dyskinesia, Primary, 41 18
1255 FRY007 Fryns Macrocephaly 18
1256 c HYD070 Hydrocephalus, Congenital Communicating, 1 18
1257 c HYD067 Hydatidiform Mole, Recurrent, 3 18
1258 P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 18
1259 DYS134 Dysspondyloenchondromatosis 18
1260 5Q1001 5q14.3 Microdeletion Syndrome 18
1261 c KRT053 Keratoconus 7 18
1262 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 18
1263 CCC003 Coccygodynia 18
1264 MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 18
1265 EPG004 Epignathus 18
1266 BRZ001 Brazilian Hemorrhagic Fever 18
1267 MDS024 Mediastinal Endodermal Sinus Tumors 18
1268 c PRM188 Primary Cutis Verticis Gyrata 18
1269 IDP047 Idiopathic Panuveitis 18
1270 17Q009 17q12 Recurrent Deletion Syndrome 18
1271 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1272 MSC019 Mosaic Trisomy 7 18
1273 ICH025 Ichthyosis, Follicular 18
1274 KRT065 Keratosis Follicularis, Dwarfism, and Cerebral Atrophy 18
1275 TLN013 Telangiectasia Macularis Eruptive Perstans 18
1276 c SYS046 Systemic Lupus Erythematosus 3 18
1277 c OTS007 Otosclerosis 3 18
1278 SYM006 Symmetrical Thalamic Calcifications 18
1279 AMB005 Amoebiasis Due to Free-Living Amoebae 18
1280 ISL155 Isolated Anencephaly 18
1281 P WHS002 Whistling Face Syndrome, Recessive Form 18
1282 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1283 MTH011 Methionine Adenosyltransferase Deficiency 18
1284 GLM036 Gliomatosis Peritonei 18
1285 PLY133 Polysyndactyly with Cardiac Malformation 18
1286 GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 18
1287 ORM001 Oro-Mandibular-Limb Hypogenesis Syndrome 18
1288 SND006 Sonoda Syndrome 17
1289 LRG010 L-Arginine:glycine Amidinotransferase Deficiency 17
1290 RDR002 Rodrigues Blindness 17
1291 c PLY178 Polydactyly, Postaxial, Type A8 17
1292 c JVN046 Juvenile Polymyositis 17
1293 5Q3001 5q35 Microduplication Syndrome 17
1294 PTR029 Pterygium, Antecubital 17
1295 PRP107 Peripheral Hypothyroidism 17
1296 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 17
1297 QLT009 Qualitative or Quantitative Defects of Caveolin-3 17
1298 HMR013 Hemorrhagic Proctocolitis 17
1299 PNT023 Pontine Hemorrhage 17
1300 16P003 16p13.11 Microdeletion Syndrome 17
1301 SPR064 Supernumerary Breasts 17
1302 CRB203 Caribbean Parkinsonism 17
1303 c KRT050 Keratoconus 5 17
1304 HMR016 Humeroradioulnar Synostosis 17
1305 SPN113 Spinocerebellar Ataxia with Dysmorphism 17
1306 EGL001 Eagle Syndrome 17
1307 CNG284 Congenital Pseudoarthrosis of the Tibia 17
1308 c DPH025 Diaphragmatic Hernia 2 17
1309 CXR001 Coxoauricular Syndrome 17
1310 PLY088 Polyvalvular Heart Disease Syndrome 17
1311 GLC039 Glucosephosphate Isomerase Deficiency 17
1312 DBL010 Double-Orifice Mitral Valve 17
1313 BRC116 Brachial Amelia, Cleft Lip, and Holoprosencephaly 17
1314 c CHR692 Chronic Encephalitis 17
1315 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 17
1316 MLT131 Multifocal Atrial Tachycardia 17
1317 c SPS170 Spastic Ataxia 2 17
1318 CNT088 Central Cloudy Dystrophy of Francois 17
1319 P NCL007 Nuclear Gene-Encoded Leigh Syndrome 17
1320 CNG108 Congenital Mitral Stenosis 17
1321 MTT004 Metatarsus Adductus 17
1322 c INF152 Infectious Posterior Uveitis 17
1323 THR084 Thoracolumbosacral Spina Bifida Cystica 17
1324 c TTL008 Total Spina Bifida Cystica 17
1325 THR085 Thoracolumbosacral Spina Bifida Aperta 17
1326 c MYP133 Myopia 18, Autosomal Recessive 17
1327 c CHR686 Chronic Cutaneous Lupus Erythematosus 17
1328 EXT063 Extrapelvic Endometriosis 17
1329 RMT001 Remitting Seronegative Symmetrical Synovitis with Pitting Edema 17
1330 CRN287 Carnitine Deficiency, Myopathic 17
1331 3Q2006 3q27.3 Microdeletion Syndrome 17
1332 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
1333 PPL053 Papillomatosis, Florid, of Nipple 17
1334 IGG009 Igg4-Related Ophthalmic Disease 17
1335 ITC001 Itch E3 Ubiquitin Ligase Deficiency 17
1336 c SCL049 Scoliosis, Isolated 3 17
1337 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 17
1338 OPH015 Ophn1 Syndrome 17
1339 STP007 Staphylococcal Scarlet Fever 16
1340 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 16
1341 AMY010 Amyloidosis Beta2m 16
1342 c ATS177 Autism X-Linked 5 16
1343 c MYP041 Myopia 8 16
1344 RTF001 Retiform Hemangioendothelioma 16
1345 CLT002 Cluttering 16
1346 20Q003 20q11.2 Microdeletion Syndrome 16
1347 MDL024 Madelung Deformity 16
1348 1QD001 1q Duplications 16
1349 XLN215 X-Linked Congenital Generalized Hypertrichosis 16
1350 BRH001 Boerhaave Syndrome 16
1351 SMC003 Semicircular Canal Dehiscence Syndrome 16
1352 CRN192 Craniorhiny 16
1353 PRS110 Persistent Placoid Maculopathy 16
1354 MSC079 Mosaic Trisomy 1 16
1355 KSH003 Kshv Inflammatory Cytokine Syndrome 16
1356 DYT003 Dyt-Gnal 16
1357 ACT231 Acute Flaccid Myelitis 16
1358 c PLY103 Polydactyly, Postaxial, Type A5 16
1359 EMR002 Emerinopathy 16
1360 EPB002 Epiblepharon 16
1361 SCL051 Scalp Defects and Postaxial Polydactyly 16
1362 MLT155 Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type 16
1363 CTN020 Cutaneous Sclerosis 16
1364 CLS032 Clostridium Perfringens Infection 16
1365 c ALP040 Alopecia Areata 2 16
1366 ATY025 Atypical Glycine Encephalopathy 16
1367 SLT007 Solitary Rectal Ulcer Syndrome 16
1368 GMB001 Gombo Syndrome 16
1369 49X005 49, Xxxyy Syndrome 16
1370 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 16
1371 LMB071 Lambotte Syndrome 16
1372 c SPS028 Spastic Paraplegia 18 16
1373 PRM367 Primary Localized Cutaneous Nodular Amyloidosis 16
1374 TYP044 Type 1 Interferonopathy 16
1375 CGH002 Cough Headache 16
1376 MYS028 Myospherulosis 16
1377 c CNG596 Congenital Ectropion 16
1378 ANL019 Anal Sphincter Dysplasia 16
1379 ALN006 Alien Hand Syndrome 16
1380 c SYS051 Systemic Lupus Erythematosus 4 16
1381 HPS001 Hip Subluxation 16
1382 GLC088 Glaucoma and Sleep Apnea 16
1383 PRP069 Purpura Simplex 16
1384 c PST093 Posterior Hypospadias 16
1385 ART091 Aorto-Ventricular Tunnel 16
1386 RDC003 Red Cell Phospholipid Defect with Hemolysis 16
1387 LWF001 Low-Flow Priapism 16
1388 c OTS012 Otosclerosis 10 16
1389 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1390 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
1391 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1392 CTN034 Cutaneous Myiasis 16
1393 c PLY101 Polydactyly, Postaxial, Type A6 16
1394 ERL037 Early-Onset Lamellar Cataract 16
1395 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 16
1396 MCR300 Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 16
1397 c CHR180 Chromosome 10, Uniparental Disomy 16
1398 EXT050 Extraneural Perineurioma 16
1399 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 16
1400 GLY085 Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency 16
1401 HYP727 Hypoglossia with Situs Inversus 16
1402 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 16
1403 LTH036 Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 16
1404 CMM018 Common Mesentery 16
1405 c ATS454 Autosomal Trisomy 16
1406 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 16
1407 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1408 APD001 Apo a-I Deficiency 16
1409 THM025 Thumbs, Congenital Clasped 16
1410 ACT170 Acute Ackee Fruit Intoxication 15
1411 8P1001 8p11.2 Deletion Syndrome 15
1412 LKT001 Leukotriene C4 Synthase Deficiency 15
1413 THN005 Thunderclap Headache 15
1414 c MYP143 Myopia 11, Autosomal Dominant 15
1415 ZNC005 Zinc-Responsive Necrolytic Acral Erythema 15
1416 c ALP036 Alopecia, Androgenetic, 2 15
1417 c MCL026 Macular Dystrophy, Retinal, 3 15
1418 c HYP551 Hypotrichosis 9 15
1419 6Q1002 6q16 Microdeletion Syndrome 15
1420 BRC100 Brachydactyly, Combined B and E Types 15
1421 CRV046 Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction 15
1422 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
1423 RDT004 Radiation Induced Brachial Plexopathy 15
1424 IRS009 Iris Hypoplasia with Glaucoma 15
1425 MLT154 Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type 15
1426 c OTS010 Otosclerosis 7 15
1427 ANT040 Anton's Syndrome 15
1428 MCR340 Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate 15
1429 MSM003 Mesomelia 15
1430 XP2001 Xp22.3 Microdeletion Syndrome 15
1431 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1432 LTH004 Lathyrism 15
1433 TRS010 Trisomy 17 Mosaicism 15
1434 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 15
1435 XLN133 X-Linked Intellectual Disability, Shashi Type 15
1436 c FBR077 Fibromatosis, Gingival, 3 15
1437 c FBR080 Fibromatosis, Gingival, 4 15
1438 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1439 c HYP544 Hypotrichosis 10 15
1440 ETN003 Eating Reflex Epilepsy 15
1441 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 15
1442 c TBB006 Tubb4a-Related Leukodystrophy 15
1443 SYR004 Syringobulbia 15
1444 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 15
1445 TRP027 Triphalangeal Thumb, Nonopposable 15
1446 WYR003 Weyers Ulnar Ray/oligodactyly Syndrome 15
1447 DST038 Distal Monosomy 7q36 15
1448 ITR003 Iatrogenic Creutzfeldt-Jakob Disease 15
1449 SHN001 Shone Complex 15
1450 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 15
1451 20P001 20p12.3 Microdeletion Syndrome 15
1452 CHR199 Chromosome 15q Duplication 15
1453 9P1001 9p13 Microdeletion Syndrome 15
1454 PPL027 Papular Urticaria 15
1455 VCT002 Vacterl Association with Hydrocephaly, X-Linked 15
1456 ARC024 Aurocephalosyndactyly 15
1457 c UNP011 Uniparental Disomy of Chromosome 14 15
1458 DST035 Distal Trisomy 18q 15
1459 CHR184 Chromosome 10q Duplication 15
1460 ANN014 Annular Lichen Planus 15
1461 JVN060 Juvenile Idiopathic Inflammatory Myopathy 15
1462 EPL161 Epilepsy, Reading 15
1463 FNG010 Fingerprint Body Myopathy 15
1464 c FRM005 Frmd7-Related Infantile Nystagmus 15
1465 TRP010 Treponema Infection 15
1466 PRS132 Parasomnia, Sleep Bruxism Type 15
1467 c ANR050 Aneurysm, Intracranial Berry, 12 15
1468 CRD014 Cardiac Diverticulum 15
1469 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 15
1470 c ISC010 Isochromosome Yp 15
1471 CNG120 Congenital Pseudoarthrosis 15
1472 ODN008 Odontomicronychial Dysplasia 15
1473 JCK003 Jackhammer Esophagus 15
1474 ISL118 Isolated Tracheoesophageal Fistula 15
1475 c TYP050 Type 2 Diabetes Mellitus 3 15
1476 CHR220 Chromosome 1p Deletion 15
1477 ACH040 Achoo Syndrome 15
1478 c GLC076 Glaucoma 1, Open Angle, H 15
1479 CTT001 Catatrichy 15
1480 LNG102 Long-Thumb Brachydactyly Syndrome 15
1481 c PLY163 Polydactyly, Postaxial, Type A2 15
1482 c RST016 Restless Legs Syndrome 7 15
1483 CTN018 Cutaneous Photosensitivity and Colitis, Lethal 15
1484 c OTS011 Otosclerosis 8 15
1485 c PTS010 Ptosis, Hereditary Congenital 2 14
1486 ISD002 Isodicentric Chromosome 15 Syndrome 14
1487 DYS053 Dystelephalangy 14
1488 c UNP012 Uniparental Disomy of Chromosome 7 14
1489 MRG007 Morgellons 14
1490 NSP010 Nasopharyngeal Teratoma 14
1491 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 14
1492 MTR086 Motor Stereotypies 14
1493 c GLC048 Glaucoma 1, Open Angle, I 14
1494 KNS003 Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 14
1495 MXL011 Maxillofacial Dysostosis 14
1496 c CSK002 Cask-Related Intellectual Disability 14
1497 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 14
1498 ISL072 Isolated Levocardia 14
1499 CHR264 Chromosome 8p Deletion 14
1500 14Q005 14q24.1q24.3 Microdeletion Syndrome 14
1501 CRT056 Carotidynia 14
1502 SCN063 Scn2a Related Disorders 14
1503 CHR257 Chromosome 6q Deletion 14
1504 DBL009 Double Inferior Vena Cava 14
1505 c GRV009 Graves Disease 2 14
1506 c ESP034 Esophagitis, Eosinophilic, 2 14
1507 CHR240 Chromosome 2q Duplication 14
1508 INT102 Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity 14
1509 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
1510 P NNN030 Non-Infectious Anterior Uveitis 14
1511 ESP040 Esophageal Duplication Cyst 14
1512 VNB001 Van Benthem-Driessen-Hanveld Syndrome 14
1513 MDM005 Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency 14
1514 DST055 Distal 22q11.2 Microduplication Syndrome 14
1515 GRN042 Granulomatous Lobular Mastitis 14
1516 GRN020 Granulomatous Hypophysitis 14
1517 GRN021 Granulomatous Rosacea 14
1518 c MTR060 Maternal Uniparental Disomy of Chromosome 9 14
1519 ANR045 Aneurysm of Interventricular Septum 14
1520 MGP001 Megaepiphyseal Dwarfism 14
1521 CNG529 Congenital Femoral Deficiency 14
1522 APV001 Aapoaiv Amyloidosis 14
1523 MDL016 Midline Cervical Cleft 14
1524 ASR001 Asrar Facharzt Haque Syndrome 14
1525 c SYS047 Systemic Lupus Erythematosus 7 14
1526 LGR001 Laugier-Hunziker Syndrome 14
1527 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 14
1528 DSM005 Desmoplastic Infantile Astrocytoma 14
1529 PRG036 Progressive Transformation of Germinal Centers 14
1530 CHR272 Chromosome 9q Duplication 14
1531 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 14
1532 CHR250 Chromosome 4q Duplication 14
1533 BDR001 Bidirectional Tachycardia 14
1534 WHB001 Wahab Syndrome 14
1535 PDT046 Pediatric-Onset Graves Disease 14
1536 ISL134 Isolated Craniosynostosis 14
1537 CHR238 Chromosome 2p Duplication 14
1538 CLF033 Cleft Mitral Valve 14
1539 MCR186 Microtriplication 11q24.1 14
1540 PHR010 Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome 14
1541 GST058 Gestational Diabetes Insipidus 14
1542 CHR256 Chromosome 6p Duplication 14
1543 NCT004 N Acetyltransferase Deficiency 14
1544 MYL019 Myeloid Splenomegaly 14
1545 NNH006 Non-Herpetic Acute Limbic Encephalitis 14
1546 GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 14
1547 ACR022 Acardia 14
1548 c PRK095 Porokeratosis 4, Disseminated Superficial Actinic Type 14
1549 CHR170 Choroid Plexus Cyst 14
1550 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 14
1551 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1552 c NNP008 Nanophthalmos 3 14
1553 CHR244 Chromosome 3p Duplication 14
1554 6P2001 6p22 Microdeletion Syndrome 14
1555 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1556 PMP003 Pemphigus and Fogo Selvagem 14
1557 ANN013 Annular Atrophic Lichen Planus 14
1558 EXG001 Exogenous Ochronosis 14
1559 CHR181 Chromosome 10p Deletion 14
1560 RCT024 Reactive Angioendotheliomatosis 14
1561 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 14
1562 PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 14
1563 PRP033 Properdin Deficiency 14
1564 BRD027 Braddock Jones Superneau Syndrome 14
1565 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1566 10Q002 10q22.3q23.3 Microduplication Syndrome 13
1567 ISL128 Isolated Microspherophakia 13
1568 c PST110 Posterior Corneal Dystrophy 13
1569 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 13
1570 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1571 GLM046 Glomus Vagale Tumor 13
1572 ATS112 Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity 13
1573 EPL095 Epilepsy with Myoclonic Absences 13
1574 CMB094 Combined Dystonia 13
1575 STR070 Startle Epilepsy 13
1576 TLN004 Talonavicular Coalition 13
1577 UNC008 Unclassified Myelodysplastic Syndrome 13
1578 c ELN001 Elane-Related Neutropenia 13
1579 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 13
1580 CHR263 Chromosome 7q Duplication 13
1581 c KCN020 Kcnt1-Related Epilepsy 13
1582 CRN039 Carnitine Acetyltransferase Deficiency 13
1583 PRM238 Primary Intralymphatic Angioendothelioma 13
1584 CHR261 Chromosome 7p Duplication 13
1585 c CNG619 Congenital Aplastic Anemia 13
1586 DRT002 Duarte Variant Galactosemia 13
1587 URC013 Urachal Diverticulum 13
1588 MSC015 Mosaic Trisomy 13 13
1589 XYL001 Xylt1-Cdg 13
1590 MYS071 Myasthenia, Limb-Girdle, Autoimmune 13
1591 ORN004 Ornithinemia 13
1592 CHR183 Chromosome 10q Deletion 13
1593 DYS181 Dyssegmental Dysplasia with Glaucoma 13
1594 EXR004 Exertional Headache 13
1595 c LTH052 Lethal Recessive Chondrodysplasia 13
1596 LNR012 Linear Verrucous Nevus Syndrome 13
1597 SCN061 Scn8a Encephalopathy 13
1598 DGT004 Digitalis Poisoning 13
1599 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 13
1600 ORB018 Orbital Leiomyoma 13
1601 6PH001 6-Phosphogluconate Dehydrogenase Deficiency 13
1602 TRC061 Trichostasis Spinulosa 13
1603 NND003 Non-Distal Trisomy 10q 13
1604 ANN009 Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly 13
1605 PRR018 Preauricular Sinus 13
1606 MSC078 Mosaic Trisomy 17 13
1607 FBR022 Febrile Ulceronecrotic Mucha-Habermann Disease 13
1608 CHR249 Chromosome 4q Deletion 13
1609 PRS111 Persistent Fifth Aortic Arch 13
1610 3LP002 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 13
1611 CHR207 Chromosome 16q Duplication 13
1612 CHR192 Chromosome 12q Duplication 13
1613 PLT010 Pili Torti Onychodysplasia 13
1614 ICH018 Ichthyosis Linearis Circumflexa 13
1615 CLS034 Clostridium Septicum Infection 13
1616 c RST014 Restless Legs Syndrome 3 13
1617 c WSK003 Wiskott-Aldrich Syndrome, Autosomal Dominant Form 13
1618 LFT005 Left-Sided Gallbladder 13
1619 c INF151 Infectious Panuveitis 13
1620 BSL013 Basaloid Follicular Hamartoma 13
1621 ATL006 Atlanto-Axial Fusion 13
1622 FRT004 Fourth Branchial Cleft Anomaly 13
1623 HYP176 Hypertelorism and Tetralogy of Fallot 13
1624 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
1625 PPL044 Papular Elastorrhexis 13
1626 BLT010 Bilateral Parasagittal Parieto-Occipital Polymicrogyria 13
1627 TBR012 Tuberculous Uveitis 13
1628 CHR196 Chromosome 14q Duplication 13
1629 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 13
1630 GND015 Gonadal Germ Cell Tumor 13
1631 DPL003 Diploid-Triploid Mosaicism 13
1632 c PRK097 Porokeratosis 5, Disseminated Superficial Actinic Type 13
1633 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1634 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 13
1635 c PRG144 Progressive Myoclonus Epilepsy 1b 13
1636 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1637 BNG042 Benign Multicystic Peritoneal Mesothelioma 13
1638 SKD001 Sakoda Complex 13
1639 CHR197 Chromosome 15, Trisomy Mosaicism 13
1640 CHR223 Chromosome 1q Deletion 13
1641 RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 13
1642 c ANR022 Aneurysm, Intracranial Berry, 4 13
1643 DBS003 Dibasic Amino Aciduria I 13
1644 11P002 11p15.4 Microduplication Syndrome 13
1645 PHC005 Phacomatosis Pigmentokeratotica 13
1646 CHR254 Chromosome 5q Duplication 13
1647 CHR194 Chromosome 13q Duplication 13
1648 DST052 Distal 7q11.23 Microduplication Syndrome 13
1649 CHR468 Chronic Pneumonitis of Infancy 13
1650 CHS007 Chester Porphyria 13
1651 c DYS091 Dyschromatosis Universalis Hereditaria 2 13
1652 P HRD194 Hereditary Geniospasm 13
1653 c UNP003 Uniparental Disomy of Chromosome 11 13
1654 IDP023 Idiopathic Subglottic Tracheal Stenosis 13
1655 c DPD002 Depdc5-Related Epilepsy 13
1656 c ATS460 Autosomal Recessive Congenital Cerebellar Ataxia 13
1657 RCT033 Rectal Duplication 13
1658 CHR214 Chromosome 18q Duplication 13
1659 DST079 Distal Trisomy 5q 13
1660 PRT237 Partial Deletion of the Long Arm of Chromosome 16 13
1661 CHR258 Chromosome 6q Duplication 13
1662 EXS022 Exostosis, Dupuytren Subungual 13
1663 c ASP034 Asperger Syndrome 4 13
1664 SPN414 Spondylometaphyseal Dysplasia, East African Type 13
1665 LMY006 Leiomyoma of Vulva and Esophagus 13
1666 IDP062 Idiopathic Syringomyelia 13
1667 HLL011 Hall-Riggs Syndrome 13
1668 P ANT062 Anterior Urethral Valve 12
1669 SVR061 Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 12
1670 c TRS033 Trisomy 18-Like Syndrome 12
1671 c OTS009 Otosclerosis 5 12
1672 RCN002 Ricin Poisoning 12
1673 c CLD017 Cold-Induced Sweating Syndrome 3 12
1674 ACR113 Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma 12
1675 THR034 Thoracopelvic Dysostosis 12
1676 9Q3001 9q31.1q31.3 Microdeletion Syndrome 12
1677 PRP103 Peripapillary Staphyloma 12
1678 ACQ033 Acquired Aneurysmal Subarachnoid Hemorrhage 12
1679 PST104 Postaxial Oligodactyly, Tetramelic 12
1680 c EPL257 Epilepsy, Progressive Myoclonic, 12 12
1681 MLT168 Multicore Disease 12
1682 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 12
1683 THS001 Thai Symphalangism Syndrome 12
1684 CHR274 Chromosome Xq Duplication 12
1685 PRV008 Parvovirus Antenatal Infection 12
1686 NND005 Non-Distal Trisomy 13q 12
1687 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 12
1688 CHR239 Chromosome 2q Deletion 12
1689 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 12
1690 ATS117 Autosomal Recessive Nail Dysplasia 12
1691 MNN041 Mannose-Binding Lectin Protein Deficiency 12
1692 PST037 Pasteurella Multocida Infection 12
1693 CNG235 Congenital Microgastria 12
1694 c DYS194 Dysautonomia-Like Disorder 12
1695 RHB019 Rhabdomyosarcoma of the Cervix Uteri 12
1696 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 12
1697 BNG075 Benign Samaritan Congenital Myopathy 12
1698 APR008 Aprosencephaly and Cerebellar Dysgenesis 12
1699 EXT060 Extragonadal Teratoma 12
1700 CNG587 Congenital Limb Malformation 12
1701 CLR130 Ciliary Dyskinesia with Defective Radial Spokes 12
1702 RTN189 Retinal Capillary Malformation 12
1703 c PPL045 Papular Mucinosis of Infancy 12
1704 PRP068 Propriospinal Myoclonus 12
1705 PCR003 Pauciarticular Onset Juvenile Idiopathic Arthritis 12
1706 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 12
1707 MCL020 Macules Hereditary Congenital Hypopigmented and Hyperpigmented 12
1708 FMR007 Femur Bifid with Monodactylous Ectrodactyly 12
1709 CHR271 Chromosome 9q Deletion 12
1710 INF059 Infundibulopelvic Dysgenesis 12
1711 ANN018 Anonychia, Total, with Microcephaly 12
1712 CLF040 Cleft Lip-Retinopathy Syndrome 12
1713 CHR189 Chromosome 12p Deletion 12
1714 IRF001 Irf6-Related Disorders 12
1715 CYS035 Cystic Adventitial Disease 12
1716 c RST021 Restless Legs Syndrome 5 12
1717 ALC030 Alect2 Amyloidosis 12
1718 MSC090 Mosaic Trisomy 3 12
1719 HRD193 Hereditary Alpha Tryptasemia Syndrome 12
1720 ATY026 Atypical Meigs Syndrome 12
1721 DYS158 Dystonia-Aphonia Syndrome 12
1722 c SPS024 Spastic Paraplegia 14 12
1723 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 12
1724 KST002 Kuster Syndrome 12
1725 c SPS165 Spastic Paraplegia 47 12
1726 DST071 Distal Monosomy 19p13.3 12
1727 SRN003 Seronegative Autoimmune Hepatitis 12
1728 c ANR023 Aneurysm, Intracranial Berry, 7 12
1729 c ANR030 Aneurysm, Intracranial Berry, 8 12
1730 AMP011 Ampola Syndrome 12
1731 PRL020 Paralysis Agitans, Juvenile, of Hunt 12
1732 c SCL058 Scoliosis, Isolated 2 12
1733 TRC064 Trochlear Dysplasia 12
1734 FGS003 Fg Syndrome 3 12
1735 ISL033 Isolated Delta-Storage Pool Disease 12
1736 DLY009 Delayed Encephalopathy Due to Carbon Monoxide Poisoning 12
1737 CHR198 Chromosome 15q Deletion 12
1738 c CCH011 Coach Syndrome 3 12
1739 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
1740 ONY002 Onychotrichodysplasia and Neutropenia 12
1741 TXN001 Toxin-Mediated Infectious Botulism 12
1742 RNL026 Renal Tubular Acidosis with Deafness 12
1743 TMR022 Tumor of Meninges 12
1744 CMP085 Camptomelic Syndrome, Long-Limb Type 12
1745 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1746 RBL002 Rubella Panencephalitis 12
1747 ART097 Aorto-Left Ventricular Tunnel 12
1748 NYS007 Nystagmus, Hereditary Vertical 12
1749 HRR003 Herrmann Opitz Craniosynostosis 12
1750 GNT041 Genetic Lipodystrophy 12
1751 MRV001 Morvan's Fibrillary Chorea 12
1752 HYP663 Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome 12
1753 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 11
1754 MDL007 Medial Medullary Syndrome 11
1755 c INF119 Infantile Mercury Poisoning 11
1756 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 11
1757 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 11
1758 UNL012 Unilateral Hemispheric Polymicrogyria 11
1759 CTR005 Cataract and Congenital Ichthyosis 11
1760 LBR027 Laubry-Pezzi Syndrome 11
1761 TRY006 Tryptophanuria with Dwarfism 11
1762 TYP047 Typhus-Group Rickettsiosis 11
1763 CHR203 Chromosome 16p Duplication 11
1764 GSB001 Gas Bloat Syndrome 11
1765 CHR556 Chromosome 3q Duplication 11
1766 SPR147 Superficial Corneal Dystrophy 11
1767 CHR255 Chromosome 6p Deletion 11
1768 SHR117 Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms 11
1769 CRP016 Creeping Myiasis 11
1770 CRC033 Circumscribed Palmoplantar Hypokeratosis 11
1771 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 11
1772 c QLT007 Qualitative or Quantitative Defects of Delta-Sarcoglycan 11
1773 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
1774 ACR080 Acral Persistent Papular Mucinosis 11
1775 CLR026 Ciliary Dyskinesia with Excessively Long Cilia 11
1776 CND035 Cone Dystrophy, X-Linked, with Tapetal-Like Sheen 11
1777 CRN194 Cranial Meningocele 11
1778 GLM017 Glomus Tympanicum Tumor 11
1779 CHR230 Chromosome 20q Deletion 11
1780 BWH001 Bow Hunter's Stroke 11
1781 MDP001 Midphalangeal Hair 11
1782 INF134 Infective Myositis 11
1783 P CNG595 Congenital Alacrima 11
1784 CHN047 Chondroectodermal Dysplasia with Night Blindness 11
1785 CHR233 Chromosome 21q Deletion 11
1786 CHR195 Chromosome 14q Deletion 11
1787 ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 11
1788 TBC002 Tbc1d24-Related Disorders 11
1789 TRT022 True Thymic Hyperplasia 11
1790 CHR218 Chromosome 19q Duplication 11
1791 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
1792 c RTN201 Retinoschisis, Autosomal Dominant 11
1793 c GLC080 Glaucoma 1, Open Angle, N 11
1794 CNG282 Congenital Knee Dislocation 11
1795 FLN005 Folinic Acid-Responsive Seizures 11
1796 SYN124 Syndromic Inherited Retinal Disorder 11
1797 LPC003 Lipoic Acid Synthetase Deficiency 11
1798 c VSC041 Vesicoureteral Reflux 7 11
1799 CHR206 Chromosome 16q Deletion 11
1800 PDT048 Pediatric-Onset Glaucoma of Genetic Origin 11
1801 c MLT172 Multiple Metaphyseal Dysplasia 11
1802 CHR458 Chromosome 9 Inversion 11
1803 ADN061 Adenosarcoma of the Cervix Uteri 11
1804 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1805 AML008 Amelogenesis Imperfecta Local Hypoplastic 11
1806 THR122 Thoracic Malformation 11
1807 MSN011 Mesangioproliferative Glomerulopathy 11
1808 IDP036 Idiopathic Bilateral Vestibulopathy 11
1809 VRL018 Virilizing Ovarian Tumor 11
1810 GNT037 Genetic Hyperferritinemia Without Iron Overload 11
1811 RHB007 Rhabdomyomatous Mesenchymal Hamartoma 11
1812 c ALP037 Alopecia, Androgenetic, 3 11
1813 c RST019 Restless Legs Syndrome 8 11
1814 PRT200 Partial Duplication of the Long Arm of Chromosome 2 11
1815 CHR210 Chromosome 17q Duplication 11
1816 c GLM021 Glioma Susceptibility 6 11
1817 CHR221 Chromosome 1p Duplication 11
1818 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
1819 NTR048 Neutropenia, Lethal Congenital, with Eosinophilia 11
1820 NCT005 N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii 11
1821 TGV001 Togaviridae Disease 11
1822 ARW003 Airway-Centered Interstitial Fibrosis 11
1823 ANG033 Angiomyomatous Hamartoma 11
1824 RHZ007 Rhizomelic Pseudopolyarthritis 11
1825 FBR026 Fibromatosis Multiple Non Ossifying 11
1826 PRT178 Partial Deletion of the Long Arm of Chromosome 5 11
1827 PLC012 Pleoconial Myopathy with Salt Craving 11
1828 c SCN055 Secondary Polyarteritis Nodosa 11
1829 GN1001 Gnao1 Encephalopathy 11
1830 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 11
1831 RSR001 Reese Retinal Dysplasia 10
1832 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1833 ACQ011 Acquired Agranulocytosis 10
1834 c ACQ036 Acquired Angioedema Type 2 10
1835 c CTR025 Cataract, Total Congenital 10
1836 c ATM058 Autoimmune Thyroid Disease 4 10
1837 LPC004 Lipoic Acid Biosynthesis Defects 10
1838 PRT215 Partial Duplication of the Short Arm of Chromosome 2 10
1839 MTH081 Mthfr Gene Variant 10
1840 c QLT013 Qualitative or Quantitative Defects of Beta-Sarcoglycan 10
1841 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 10
1842 c ATS154 Autosomal Recessive Complex Spastic Paraplegia 10
1843 DSM014 Desmoplastic Infantile Astrocytoma/ganglioglioma 10
1844 IDP079 Idiopathic Dropped Head Syndrome 10
1845 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 10
1846 MYL078 Myelodysplastic Syndrome with Single Lineage Dysplasia 10
1847 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 10
1848 ACT168 Acute Annular Outer Retinopathy 10
1849 c ACQ070 Acquired Laryngomalacia 10
1850 c GLM019 Glioma Susceptibility 4 10
1851 CHR235 Chromosome 22q Deletion 10
1852 LVC001 Levic Stefanovic Nikolic Syndrome 10
1853 SYM005 Symmastia 10
1854 HYP668 Hypospadias-Intellectual Disability, Goldblatt Type Syndrome 10
1855 HFT001 Hooft Disease 10
1856 CMP031 Complement Component Deficiency 10
1857 c INT382 Intermediate Atrioventricular Septal Defect 10
1858 INT396 Internal Carotid Absence 10
1859 CHR260 Chromosome 7p Deletion 10
1860 TRR003 Terrien Marginal Degeneration 10
1861 INC014 Incessant Infant Ventricular Tachycardia 10
1862 LFT022 Left Sided Atrial Isomerism 10
1863 c SCL059 Scoliosis, Isolated 4 10
1864 c SCL060 Scoliosis, Isolated 5 10
1865 RDS004 Rud Syndrome 10
1866 PRP108 Paraparetic Variant of Guillain-Barre Syndrome 10
1867 CHR217 Chromosome 19q Deletion 10
1868 c HYP770 Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria 10
1869 CHR231 Chromosome 20q Duplication 10
1870 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 10
1871 CYS023 Cystic Medial Necrosis of Aorta 10
1872 ATY052 Atypical Timothy Syndrome 10
1873 SPL021 Split Hand Split Foot Nystagmus 10
1874 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
1875 FRM006 Formaldehyde Poisoning 10
1876 CHR228 Chromosome 20p Deletion 10
1877 CHR459 Chromosome Xp Deletion 10
1878 LCT018 Lactobezoar 10
1879 CLR128 Ciliary Discoordination Due to Random Ciliary Orientation 10
1880 TRD004 Taurodontism, Microdontia, and Dens Invaginatus 10
1881 TRC060 Trichoscyphodysplasia 10
1882 CHR186 Chromosome 11p Duplication 10
1883 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 10
1884 CHR267 Chromosome 8q Deletion 10
1885 CRB080 Cor Biloculare 10
1886 FCL058 Facial Arteriovenous Malformation 10
1887 CD4004 Cd4 Deficiency 10
1888 c ATS065 Autosomal Dominant Coarctation of Aorta 10
1889 CMP062 Complication After Organ Transplantation 10
1890 HSH001 Hashimoto-Pritzker Syndrome 10
1891 ALP098 Alpha-2-Deficient Collagen Disease 10
1892 CHN026 Chondrodysplasia Calcificans Metaphysealis 10
1893 IGG010 Igg4-Related Aortitis 10
1894 DTR002 Dieterich's Disease 10
1895 PRM302 Paramedian Facial Cleft 10
1896 SLN002 Selenium Poisoning 10
1897 BST005 Bustos Simosa Pinto Cisternas Syndrome 10
1898 ERY018 Erythema Nodosum, Idiopathic 10
1899 ONY006 Onychodystrophy-Anonychia 10
1900 ATY027 Atypical Lichen Myxedematosus 10
1901 HHV002 Hhv-8-Associated Multicentric Castleman Disease 10
1902 DBL015 Double Outlet Right Atrium 10
1903 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 10
1904 ADV004 Adverse Events of 5-Alpha-Reductase Inhibitors 10
1905 CHR234 Chromosome 21q Duplication 10
1906 DST089 Distal Trisomy 3p 10
1907 NNT045 Neonatal Autoimmune Hemolytic Anemia 10
1908 PTT019 Pituitary Dwarfism with Large Sella Turcica 10
1909 c GLM022 Glioma Susceptibility 8 10
1910 AST008 Asternia 10
1911 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
1912 DFF017 Diffuse Cavernous Hemangioma of the Rectum 10
1913 CSK001 Cask-Related Disorders 10
1914 PLR014 Pleuro-Pericardial Cyst 10
1915 ANN019 Anonychia-Ectrodactyly 10
1916 RNP002 Renoprival Hypertension 10
1917 MLT158 Multiple Exostoses with Spastic Tetraparesis 9
1918 SNS012 Sinus Node Disease and Myopia 9
1919 CQR001 Coq-Responsive Oxphos Deficiency 9
1920 c HYP453 Hypertension, Essential 7 9
1921 SMP006 Simple Cryoglobulinemia 9
1922 WND003 Windblown Hand 9
1923 PSD083 Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 9
1924 MYC062 Mycoplasma Encephalitis 9
1925 4P1001 4p16.3 Microduplication Syndrome 9
1926 LPD038 Lipedematous Scalp 9
1927 MCR090 Microspherophakia with Hernia 9
1928 ZSK001 Zuska's Disease 9
1929 FND005 Fundus Pulverulentus 9
1930 CTH001 Cathepsin a-Related Arteriopathy-Strokes-Leukoencephalopathy 9
1931 c SPR154 Sporadic Human Prion Disease 9
1932 DST081 Distal Trisomy 11q 9
1933 c PRM185 Primary Essential Cutis Verticis Gyrata 9
1934 CHR185 Chromosome 11p Deletion 9
1935 IDP056 Idiopathic Neonatal Atrial Flutter 9
1936 HRP036 Herpesvirus Simiae B Virus Infection 9
1937 CHR191 Chromosome 12q Deletion 9
1938 CTR030 Citrulline Transport Defect 9
1939 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 9
1940 c TRN078 Transient Antenatal Bartter Syndrome 9
1941 PLY165 Polyosteolysis-Hyperostosis Syndrome 9
1942 PRT160 Partial Deletion of the Short Arm of Chromosome 4 9
1943 PRT187 Partial Duplication of Chromosome X 9
1944 INF139 Infantile Choroidocerebral Calcification Syndrome 9
1945 c WDR002 Wdr26-Related Intellectual Disability 9
1946 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
1947 TRS009 Trisomy 12 Mosaicism 9
1948 CRT077 Cortical Blindness-Intellectual Disability-Polydactyly Syndrome 9
1949 CHR245 Chromosome 3q Deletion 9
1950 c KLZ003 Kala-Azar 3 9
1951 AHM001 Ahumada Del Castillo Syndrome 9
1952 RDT003 Radiation Induced Angiosarcoma of the Breast 9
1953 SPL023 Split Hand/foot Malformation X-Linked 9
1954 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 9
1955 AXN006 Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy 9
1956 WHT012 White Fibrous Papulosis of the Neck 9
1957 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
1958 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 9
1959 CRD015 Cardiac Hydatid Cysts with Intracavitary Expansion 9
1960 GRN018 Granulomas, Congenital Cerebral 9
1961 CHR237 Chromosome 2p Deletion 9
1962 P PRM298 Primary Peritoneal Tumor 9
1963 c UNP009 Uniparental Disomy of Chromosome 20 9
1964 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 9
1965 DST076 Distal Trisomy 13q 9
1966 PRC042 Parachute Tricuspid Valve 9
1967 ACT096 Acute Cholinergic Dysautonomia 9
1968 MSM006 Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 9
1969 AMN016 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 9
1970 BRN058 Brunsting-Perry Syndrome 9
1971 MSC013 Mosaic Monosomy 18 9
1972 PRX078 Preaxial Polydactyly of Fingers 9
1973 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 9
1974 DDY001 Didymosis Aplasticosebacea 9
1975 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 9
1976 CNG053 Congenital Amputation 9
1977 CHR287 Chronic Polyradiculoneuritis 9
1978 SRP007 Serpinopathy 9
1979 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
1980 P FRN057 Furuncular Myiasis Due to Cordylobia Anthropophaga 9
1981 c ISC017 Isca2-Related Mitochondrial Disorder 9
1982 P RCR003 Recurrent Peripheral Facial Palsy 9
1983 BNG092 Benign Infantile Focal Epilepsy with Midline Spikes and Waves During Sleep 9
1984 c SCN085 Secondary Ectropion 9
1985 CLS033 Clostridium Sordellii Infection 9
1986 CHR216 Chromosome 19p Duplication 9
1987 CRH002 Crohn's Disease of the Esophagus 9
1988 c AML063 Amelogenesis Imperfecta Type 2a1 9
1989 ACH016 Achard Thiers Syndrome 9
1990 XLN212 X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome 9
1991 LKN006 Leukoencephalopathy, Cerebral Calcifications, and Cysts 9
1992 XNT007 Xanthogranulomatous Sialadenitis 9
1993 c APL027 Aplasia Cutis Congenita of Limbs, Autosomal Recessive 9
1994 MCR055 Microcephaly Nonsyndromal 9
1995 DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8
1996 GNT022 Giant Mammary Hamartoma 8
1997 OMP003 Omphalomesenteric Cyst 8
1998 PRT228 Partial Duplication of Chromosome 1 8
1999 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 8
2000 c LCT020 Lactic Acidosis, Chronic Adult Form 8
2001 NYS008 Nystagmus, Myoclonic 8
2002 CHR460 Chromosome Xq Deletion 8
2003 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
2004 ACC010 Accessory Tricuspid Valve Tissue 8
2005 c ISC013 Isochromosomy Yq 8
2006 BYL003 Baylisascaris Infection 8
2007 ADN079 Adenosine Triphosphatase Deficiency, Anemia Due to 8
2008 PPL055 Pupil, Egg-Shaped 8
2009 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
2010 CTR011 Cataract Hutterite Type 8
2011 HM3001 Hemi 3 Syndrome 8
2012 MCR060 Microcephaly with Spastic Quadriplegia 8
2013 TRB003 Trueb Burg Bottani Syndrome 8
2014 URG002 Urogenital Adysplasia 8
2015 PRT197 Partial Duplication of the Long Arm of Chromosome 15 8
2016 PRT203 Partial Duplication of the Long Arm of Chromosome 7 8
2017 DST057 Distal Trisomy 19q 8
2018 FNG013 Fungal Myositis 8
2019 BNG090 Benign Nocturnal Alternating Hemiplegia of Childhood 8
2020 c PRM317 Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan 8
2021 CNG327 Congenital Epstein-Barr Virus Infection 8
2022 c MTR065 Maternal Uniparental Disomy of Chromosome 21 8
2023 HMP015 Hemophagocytic Reticulosis 8
2024 GNT152 Genetic Hyperaldosteronism 8
2025 2MT002 2-Methylacetoacetyl Coa Thiolase Deficiency 8
2026 BRN050 Branchial Arch Defects 8
2027 PRT231 Partial Duplication of Chromosome 4 8
2028 c ISL038 Isolated Focal Cortical Dysplasia Type Ib 8
2029 CNG255 Congenital Temporomandibular Joint Ankylosis 8
2030 CCH007 Cochleovestibular Dysplasia 8
2031 SCR023 Sacral Plexopathy 8
2032 FLV003 Flavimonas Oryzihabitans Infection 8
2033 MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 8
2034 MSC014 Mosaic Monosomy 22 8
2035 MYS066 Myosinopathies 8
2036 c ACQ056 Acquired Ataxia 8
2037 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
2038 PRT181 Partial Deletion of the Long Arm of Chromosome 8 8
2039 SLF008 Self-Healing Papular Mucinosis 8
2040 c SVR104 Severe Congenital Neutropenia 7 8
2041 FTZ005 Fitzsimmons-Guilbert Syndrome 8
2042 MHV001 Mahvash Disease 8
2043 GNT126 Genetic Hypoparathyroidism 8
2044 XLN237 X-Linked Pure Spastic Paraplegia 8
2045 PRT171 Partial Deletion of the Short Arm of Chromosome 18 8
2046 IDP014 Idiopathic Alveolar Hypoventilation Syndrome 8
2047 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8
2048 CHN052 Choanal Atresia, Bilateral 8
2049 STP012 Staphylococcal Toxemia 8
2050 RFS002 Refsum Disease with Increased Pipecolic Acidemia 8
2051 INC032 Inclusion Myopathy 8
2052 c ACT189 Acute Neonatal Citrullinemia Type I 8
2053 TBF001 Tibio-Fibular Synostosis 8
2054 ESP045 Esophageal Malformation 8
2055 DNS002 Dens in Dente and Palatal Invaginations 8
2056 NVS014 Nevus Mucinosis 8
2057 NBL002 Noble Bass Sherman Syndrome 8
2058 SYS008 Systemic Necrotizing Angitis 8
2059 WRM002 Warman Mulliken Hayward Syndrome 8
2060 P ANM056 Anomaly of Chromosome 10 8
2061 PRT152 Partial Deletion of Chromosome 10 8
2062 PRT177 Partial Deletion of the Long Arm of Chromosome 4 8
2063 PRT238 Partial Deletion of the Long Arm of Chromosome 17 8
2064 PRT241 Partial Deletion of the Long Arm of Chromosome 20 8
2065 CNG318 Congenital Genu Recurvatum 8
2066 SYN127 Syndromic Ectopia Lentis 8
2067 CRN208 Coronary Sinus Atresia 8
2068 ABS006 Absent Breasts and Nipples 8
2069 CNG062 Congenital Bronchobiliary Fistula 8
2070 CNG097 Congenital Giant Megaureter 7
2071 DWR022 Dwarfism, Proportionate, with Hip Dislocation 7
2072 c NNS076 Non-Syndromic X-Linked Intellectual Disability 58 7
2073 CNG517 Congenital Agenesis of the Scrotum 7
2074 MSC018 Mosaic Trisomy 6 7
2075 CRB075 Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease 7
2076 SLB001 Saal Bulas Syndrome 7
2077 SPS186 Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome 7
2078 WSC001 Wisconsin Syndrome 7
2079 P PRT173 Partial Monosomy of the Short Arm of Chromosome 20 7
2080 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 7
2081 PRT234 Partial Duplication of Chromosome 7 7
2082 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 7
2083 PLY128 Polyclonal Hyperviscosity Syndrome 7
2084 SNG013 Single-Organ Polyarteritis Nodosa 7
2085 CMP026 Camptodactyly-Ichthyosis Syndrome 7
2086 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
2087 PST076 Postcardiotomy Right Ventricular Failure 7
2088 AML037 Amelia of Upper Limb 7
2089 TRN052 Transient Hyperammonemia of the Newborn 7
2090 c PRM287 Primary Adult Heart Tumor 7
2091 DST084 Distal Trisomy 8q 7
2092 CHR215 Chromosome 19p Deletion 7
2093 INF115 Infectious Epithelial Keratitis 7
2094 PRT235 Partial Deletion of the Long Arm of Chromosome 14 7
2095 c SCN080 Secondary Avascular Necrosis 7
2096 SYN150 Syndromic Cataract 7
2097 c NNS094 Non-Syndromic X-Linked Intellectual Disability 72 7
2098 CRB063 Cerebello-Olivary Atrophy 7
2099 SPS184 Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 7
2100 URG006 Urogenital Tract Malformation 7
2101 c CRB078 Cerebrocostomandibular-Like Syndrome 7
2102 c ACQ028 Acquired Secondary Polycythemia 7
2103 GNR045 Generalized Lipodystrophy-Associated Progeroid Syndrome 7
2104 c ACQ064 Acquired Premature Ovarian Failure 7
2105 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
2106 DWR002 Dauwerse-Peters Syndrome 7
2107 TRS022 Torsade De Pointes, Short-Coupled Variant 7
2108 MCP019 Mcpherson Robertson Cammarano Syndrome 7
2109 MHT001 Mehta Lewis Patton Syndrome 7
2110 NLD003 Nail Dysplasia, Isolated Congenital 7
2111 SPL017 Splenogonadal Fusion Limb Defects Micrognatia 7
2112 NDL018 Nodular Urticaria Pigmentosa 7
2113 PRT146 Partial Deletion of Chromosome 8 7
2114 PRT149 Partial Deletion of Chromosome 7 7
2115 PRT217 Partial Duplication of the Short Arm of Chromosome 4 7
2116 VLV045 Vulvovaginal Rhabdomyosarcoma 7
2117 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
2118 ESN021 Eosinophilic Mastitis 7
2119 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
2120 LNG103 Lin-Gettig Syndrome 7
2121 JRG001 Jorgenson Lenz Syndrome 7
2122 GNT108 Genetic Infertility 7
2123 DSR032 Disorder of Manganese Transport 7
2124 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
2125 CHT002 Chitayat Meunier Hodgkinson Syndrome 7
2126 CHR259 Chromosome 6q25 Microdeletion Syndrome 7
2127 DST096 Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies 7
2128 SGM003 Segmentation Syndrome 1 7
2129 UNV005 Universal Acquired Melanosis 7
2130 ISL026 Isolated Sternocostoclavicular Hyperostosis 7
2131 c PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
2132 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
2133 NNS054 Non-Syndromic Postaxial Polydactyly 7
2134 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 7
2135 NNS059 Non-Syndromic Limb Reduction Defect 7
2136 BTZ001 Baetz-Greenwalt Syndrome 6
2137 BDH001 Boudhina Yedes Khiari Syndrome 6
2138 c CNG110 Congenital Mumps 6
2139 GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 6
2140 HYP196 Hypodontia, X-Linked 6
2141 P TSS001 Tessier Number 5 Facial Cleft 6
2142 PRT143 Partial Deletion of Chromosome 5 6
2143 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
2144 GNT162 Genetic Non-Acquired Premature Ovarian Failure 6
2145 UNC009 Unclassified Myelodysplastic/myeloproliferative Disease 6
2146 c ATS153 Autosomal Recessive Pure Spastic Paraplegia 6
2147 CDC005 Cad-Cdg 6
2148 SMS002 Samson Viljoen Syndrome 6
2149 QLT016 Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan 6
2150 c ATS439 Autosomal Ichthyosis Syndrome 6
2151 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 6
2152 MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 6
2153 BRC020 Brachydactylous Dwarfism Mseleni Type 6
2154 c CHR162 Chiari Malformation Type 4 6
2155 CRN101 Craniosynostosis Philadelphia Type 6
2156 GYF001 Gay Feinmesser Cohen Syndrome 6
2157 P PRX076 Peroxisomal Beta-Oxidation Disorder 6
2158 PRG024 Progeroid Syndrome Petty Type 6
2159 CNG261 Congenital Insensitivity to Pain with Hyperhidrosis 6
2160 ISL055 Isolated Facial Myokymia 6
2161 FCL062 Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation 6
2162 12Q001 12q15q21.1 Microdeletion Syndrome 6
2163 c FRN055 Furuncular Myiasis Due to Cordylobia Rodhaini 6
2164 RDT017 Radiation-Induced Disorder 6
2165 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
2166 DST074 Distal Trisomy 20q 6
2167 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 6
2168 MTC024 Mitochondrial Genetic Disorders 6
2169 c KLP013 Klippel-Feil Syndrome 3 6
2170 SRS008 Seres-Santamaria Arimany Muniz Syndrome 6
2171 IDP088 Idiopathic Isolated Micropenis 6
2172 c PLY005 Polycythemia Due to Hypoxia 6
2173 SCH021 Schaefer Stein Oshman Syndrome 6
2174 SCH032 Schrander-Stumpel Theunissen Hulsmans Syndrome 6
2175 CNG610 Congenital Hypoplasia of Thumb 6
2176 LNG112 Longitudinal Limb Defect 6
2177 c ATS463 Autosomal Dominant Cerebellar Ataxia Type Iv 6
2178 ECT057 Ectasia of the Right Atrial Appendage 6
2179 CRB183 Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers 6
2180 ALP024 Alopecia Universalis Onychodystrophy Vitiligo 6
2181 ARR003 Arroyo Garcia Cimadevilla Syndrome 6
2182 CMP033 Complement Receptor Deficiency 6
2183 FRN018 Frenkel Russe Syndrome 6
2184 MSS003 Massa Casaer Ceulemans Syndrome 6
2185 SCK006 Sackey Sakati Aur Syndrome 6
2186 SCH034 Schwartz Cohen-Addad Lambert Syndrome 6
2187 TRY005 Trypanosomiasis, Human West-African 6
2188 ZDK001 Zadik Barak Levin Syndrome 6
2189 HYP850 Hypoglossia/aglossia 6
2190 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
2191 PRT191 Partial Duplication of the Long Arm of Chromosome 17 6
2192 HML043 Hemolytic Disease of the Newborn with Kell Alloimmunization 6
2193 TRN050 Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency 6
2194 GRY003 Grayson-Wilbrandt Corneal Dystrophy 6
2195 ACT171 Acute Opioid Poisoning 6
2196 NDL019 Nodular Lichen Myxedematosus 6
2197 TBL020 Tubular Duplication of the Esophagus 6
2198 DPR003 Diprosopia 6
2199 c ADL100 Adult-Onset Severe Asthma 6
2200 c NNS075 Non-Syndromic X-Linked Intellectual Disability 20 6
2201 CNG592 Congenital Aortic Valve Atresia 6
2202 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 6
2203 ANN003 Anencephaly and Spina Bifida X-Linked 5
2204 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
2205 DRK001 Der Kaloustian Mcintosh Silver Syndrome 5
2206 GHS002 Ghose Sachdev Kumar Syndrome 5
2207 PRC025 Precocious Puberty, Gonadotropin-Dependent 5
2208 BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 5
2209 THN007 Thinking Seizures 5
2210 EXT055 Extragonadal Germinoma 5
2211 LWR011 Lower Lip Fistula 5
2212 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
2213 PRT147 Partial Deletion of Chromosome 9 5
2214 PRT201 Partial Duplication of the Long Arm of Chromosome 3 5
2215 PRT209 Partial Duplication of the Short Arm of Chromosome 17 5
2216 PRT211 Partial Duplication of the Short Arm of Chromosome 11 5
2217 INT355 Intercalary Limb Defects 5
2218 DBL020 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect 5
2219