Bone Diseases Category (2505 diseases)


Including: Bone, Skeletal, Cartilage, Rheumatologic, Osteo
See other categories (disease lists)

# Family MCID Name MIFTS
1 P PGT001 Paget's Disease of Bone 61
2 PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 48
3 OST012 Osteoarthritis 81
4 c HRD104 Hereditary Multiple Osteochondromas 39
5 P OST002 Osteoporosis 74
6 BRT054 Brittle Bone Disorder 70
7 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 44
8 FML345 Familial Expansile Osteolysis 45
9 CHR288 Chronic Recurrent Multifocal Osteomyelitis 55
10 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28
11 GRC002 Gracile Bone Dysplasia 29
12 P BNC003 Bone Cancer 58
13 OST159 Osteogenic Sarcoma 66
14 CRT002 Cartilage-Hair Hypoplasia 59
15 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 56
16 c OST129 Osteopetrosis, Autosomal Recessive 2 47
17 c OST136 Osteopetrosis, Autosomal Recessive 7 44
18 c OST134 Osteopetrosis, Autosomal Recessive 6 35
19 c OST164 Osteoporosis, Juvenile 57
20 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42
21 GRH001 Gorham's Disease 38
22 c FML169 Familial Osteochondritis Dissecans 32
23 END081 Endosteal Hyperostosis, Autosomal Dominant 59
24 ALB001 Albright's Hereditary Osteodystrophy 53
25 OST044 Osteoglophonic Dysplasia 52
26 BSC001 Buschke-Ollendorff Syndrome 50
27 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 38
28 c OST137 Osteopetrosis, Autosomal Recessive 4 27
29 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 30
30 KHL001 Kohler's Disease 18
31 LGG001 Legg-Calve-Perthes Disease 61
32 BNG036 Bone Giant Cell Tumor 51
33 BNW001 Bone Ewing's Sarcoma 50
34 HJD001 Hajdu-Cheney Syndrome 60
35 ONC003 Oncogenic Osteomalacia 46
36 BNT003 Bent Bone Dysplasia Syndrome 41
37 TRC039 Tracheobronchopathia Osteoplastica 19
38 GRD006 Geroderma Osteodysplastica 28
39 RNS001 Raine Syndrome 45
40 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 28
41 c PRM243 Primary Bone Cancer 19
42 c JVN025 Juvenile Primary Osteoporosis 18
43 OST003 Osteonecrosis 66
44 ENC044 Enchondromatosis, Multiple, Ollier Type 54
45 CRP009 Carpotarsal Osteochondromatosis 10
46 BND020 Bone Disease 61
47 OST016 Osteochondrosis 52
48 OSG001 Osgood-Schlatter's Disease 36
49 AXL003 Axial Osteomalacia 33
50 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 24
51 OST022 Osteopathia Striata with Cranial Sclerosis 49
52 SCH072 Scheuermann Disease 39
53 MJD001 Majeed Syndrome 34
54 P NGT001 Negative Rheumatoid Factor Polyarthritis 10
55 MLT033 Multicentric Osteolysis Nephropathy 10
56 BNM001 Bone Marrow Cancer 52
57 ANR009 Aneurysmal Bone Cysts 49
58 c EXS019 Exostoses, Multiple, Type I 46
59 OST014 Osteopoikilosis 40
60 c OST128 Osteogenesis Imperfecta, Type Xii 29
61 MLR010 Melorheostosis with Osteopoikilosis 24
62 DNT050 Dentin Dysplasia with Sclerotic Bones 15
63 P OST009 Osteochondritis Dissecans 59
64 OST032 Osteofibrous Dysplasia 53
65 P CNT056 Cantu Syndrome 51
66 OST015 Osteochondrodysplasia 50
67 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 37
68 c CNT094 Cantú Syndrome and Related Disorders 6
69 CYS041 Cystic Angiomatosis of Bone, Diffuse 30
70 BNS001 Bone Osteosarcoma 30
71 P BNM015 Bone Mineral Density Quantitative Trait Locus 18 29
72 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 23
73 NVC001 Navicular Bone, Accessory 19
74 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 19
75 KNB002 Kienbock's Disease 28
76 c OST109 Osteogenesis Imperfecta, Type Xiv 26
77 c OST123 Osteogenesis Imperfecta, Type Xiii 26
78 PCM001 Pacman Dysplasia 21
79 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 16
80 OSS012 Osseous Heteroplasia, Progressive 64
81 P CHN012 Chondrosarcoma 58
82 GNT026 Gnathodiaphyseal Dysplasia 37
83 CDS002 Codas Syndrome 33
84 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
85 c LCL005 Localized Chondrosarcoma 10
86 RNL011 Renal Osteodystrophy 49
87 MLN014 Melnick-Needles Syndrome 41
88 GRD005 Geroderma Osteodysplasticum 31
89 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
90 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 20
91 OSL001 Oslam Syndrome 20
92 OST149 Osteolysis Syndrome, Recessive 20
93 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18
94 FRN047 Frontonasal Dysplasia with Alar Clefts 17
95 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
96 ALT005 Aloi Tomasini Isaia Syndrome 8
97 OST013 Osteosarcoma Arising in Bone Paget's Disease 7
98 DST005 Diastrophic Dysplasia 53
99 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 31
100 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 21
101 KTL001 Keutel Syndrome 40
102 SLT009 Solitary Bone Cyst 34
103 c KNN007 Kenny-Caffey Syndrome, Type 2 30
104 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
105 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
106 OST117 Osteomesopyknosis 21
107 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 16
108 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 14
109 KNS001 Kniest Dysplasia 56
110 ADM013 Adamantinoma of Long Bones 48
111 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 40
112 JXT003 Juxtacortical Osteosarcoma 40
113 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 38
114 SKL003 Skeletal Muscle Cancer 37
115 c PGT007 Paget Disease of Bone 3 36
116 PRP024 Peripheral Osteosarcoma 34
117 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 34
118 CNV007 Conventional Central Osteosarcoma 27
119 c PGT009 Paget Disease of Bone 2, Early-Onset 26
120 SML003 Small Cell Osteogenic Sarcoma 25
121 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 19
122 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16
123 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 16
124 OST034 Osteogenesis Imperfecta Levin Type 10
125 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
126 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
127 LRY012 Laryngeal Cartilage Cancer 8
128 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 6
129 INF051 Infantile Recurrent Chronic Multifocal Osteomyolitis 4
130 ACH004 Achondroplasia 68
131 OST017 Osteomyelitis 64
132 OST011 Osteomalacia 52
133 EXS001 Exostosis 45
134 OST004 Osteitis Fibrosa 42
135 P CLC057 Cole-Carpenter Syndrome 38
136 BMR001 Boomerang Dysplasia 36
137 OST062 Osteoarthritis with Mild Chondrodysplasia 30
138 TRC115 Tracheopathia Osteoplastica 29
139 EKN001 Eiken Syndrome 22
140 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 21
141 c PGT011 Paget Disease of Bone 6 21
142 SHR027 Short Stature Wormian Bones Dextrocardia 13
143 BNN003 Bone Inflammation Disease 55
144 GLC086 Glucocorticoid-Induced Osteoporosis 46
145 P ACH011 Achondrogenesis 45
146 SKL017 Skeletal Dysplasias 43
147 MRS004 Marshall-Smith Syndrome 42
148 P BNL002 Bone Lymphoma 34
149 SKL001 Skeletal Tuberculosis 25
150 HMM004 Hamamy Syndrome 25
151 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 25
152 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 22
153 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 21
154 BND017 Bone Dysplasia, Lethal, Holmgren Type 21
155 BRS030 Breast Osteosarcoma 20
156 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 17
157 OST047 Osteopenia and Sparse Hair 17
158 OST058 Osteopoikilosis and Dacryocystitis 17
159 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 17
160 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 15
161 KDN010 Kidney Osteogenic Sarcoma 13
162 CHS003 Chest Wall Bone Cancer 9
163 BNR002 Bone Resorption Disease 53
164 P OST028 Osteochondroma 49
165 c BNM029 Bone Mineral Density Quantitative Trait Locus 15 47
166 P BRC015 Bruck Syndrome 45
167 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 44
168 PRS029 Periosteal Osteogenic Sarcoma 42
169 FBR013 Fibrosarcomatous Osteosarcoma 38
170 DYS013 Dysbaric Osteonecrosis 37
171 P EXT032 Extraosseous Osteosarcoma 37
172 WNC001 Winchester Syndrome 35
173 CHP002 Chops Syndrome 33
174 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 29
175 BNG005 Bone Giant Cell Sarcoma 26
176 HGH023 High Bone Mass Osteogenesis Imperfecta 26
177 BNP002 Bone Epithelioid Hemangioma 24
178 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
179 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
180 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 16
181 PYK001 Pyknoachondrogenesis 16
182 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 16
183 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 16
184 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 15
185 PLY028 Polycystic Bone Disease 13
186 c ADL034 Adult Extraosseous Osteosarcoma 13
187 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 13
188 BWN005 Bowing of Long Bones Congenital 12
189 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 10
190 CHL007 Childhood Extraosseous Osteosarcoma 10
191 HPT017 Hepatic Osteogenic Sarcoma 10
192 MDS009 Mediastinal Osteogenic Sarcoma 9
193 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 9
194 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 9
195 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 8
196 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 4
197 HYP068 Hyperostosis 50
198 BNF002 Bone Fracture 46
199 OPS002 Opsismodysplasia 38
200 ACR002 Acrocapitofemoral Dysplasia 33
201 CZC002 Czech Dysplasia 28
202 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 22
203 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 8
204 HYP042 Hypochondroplasia 60
205 GRN034 Grange Syndrome 55
206 FBR009 Fibrous Dysplasia 50
207 CHR543 Chromosome 2q37 Deletion Syndrome 35
208 c DNT025 Dentinogenesis Imperfecta 1 31
209 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
210 c EXS020 Exostoses, Multiple, Type Ii 25
211 STR088 Stratton-Parker Syndrome 23
212 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 22
213 c ERL004 Early Yaws 21
214 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 20
215 c LTY001 Late Yaws 19
216 PNN003 Panner Disease 9
217 LNG027 Long Bones of Lower Limb Cancer 8
218 c LYS017 Loeys-Dietz Syndrome 4 49
219 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48
220 MLR003 Melorheostosis 47
221 OST097 Osteoporotic Fracture 44
222 MLG014 Malignant Fibrous Histiocytoma of Bone 42
223 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
224 c FNC046 Fanconi Anemia, Complementation Group P 39
225 FBR002 Fibrosarcoma of Bone 39
226 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 35
227 PDT021 Pediatric Osteosarcoma 35
228 BNR001 Bone Remodeling Disease 31
229 CHN003 Chondroblastic Osteosarcoma 31
230 LCL004 Localized Osteosarcoma 30
231 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
232 TLN002 Telangiectatic Osteogenic Sarcoma 27
233 c CLC056 Cole-Carpenter Syndrome 1 23
234 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 20
235 c PRM151 Primary Bone Lymphoma 20
236 P MLT017 Multifocal Osteogenic Sarcoma 19
237 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19
238 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
239 c PGT006 Paget Disease of Bone 4 18
240 BMR004 Beemer Lethal Malformation Syndrome 18
241 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
242 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
243 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
244 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
245 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 15
246 INT073 Intracortical Osteogenic Sarcoma 14
247 SYN002 Synchronous Multifocal Osteogenic Sarcoma 14
248 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 14
249 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 12
250 DST098 Distal Osteosclerosis 12
251 LPS001 Liposarcoma of Bone 12
252 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 11
253 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 11
254 OST156 Osteosclerosis with Ichthyosis and Fractures 10
255 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 10
256 BNN002 Bone Angioendothelial Sarcoma 10
257 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 9
258 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 7
259 CHL041 Childhood Intracortical Osteosarcoma 7
260 CHL001 Childhood Parosteal Osteogenic Sarcoma 6
261 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
262 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 6
263 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 6
264 OST172 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 6
265 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 6
266 MTC001 Metachronous Osteosarcoma of the Bone 5
267 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
268 CTR016 Cataract Skeletal Anomalies 4
269 HYD022 Hydrocephalus Skeletal Anomalies 4
270 OCL029 Oculo Skeletal Renal Syndrome 3
271 CTS007 Cutis Laxa Osteoporosis 3
272 c PST038 Positive Rheumatoid Factor Polyarthritis 3
273 BRT025 Brittle Bone Syndrome Lethal Type 3
274 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
275 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 3
276 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 3
277 DWR010 Dwarfism Thin Bones Multiple Fractures 3
278 CRP008 Carpo Tarsal Osteolysis Recessive 3
279 CRN080 Craniofacial and Skeletal Defects 3
280 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
281 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 3
282 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 62
283 P OTS002 Otospondylomegaepiphyseal Dysplasia 46
284 OST115 Osteonecrosis of the Jaw 44
285 c ACH033 Achondrogenesis, Type Ia 44
286 c MYF007 Myofibromatosis, Infantile, 1 43
287 P HRD001 Hereditary Multiple Exostoses 42
288 CHN004 Chondroblastoma 40
289 END059 Endocrine-Cerebroosteodysplasia 35
290 OST006 Osteoblastoma 34
291 OST160 Osteoid Osteoma 32
292 BND014 Bone Development Disease 31
293 P BRC003 Brachyolmia 30
294 DYS045 Dysosteosclerosis 30
295 CPL004 Caplan's Syndrome 29
296 BNS002 Bone Structure Disease 27
297 PTR001 Petrositis 23
298 c FBR029 Fibrochondrogenesis 1 23
299 OST168 Osteosclerotic Metaphyseal Dysplasia 21
300 c BRC053 Brachyolmia Type 2 21
301 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 20
302 SHR114 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 20
303 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
304 SLW006 Saul-Wilson Syndrome 14
305 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 13
306 CHR633 Choroidal Osteoma, Bilateral 11
307 P ART022 Arthritis 77
308 CNN005 Connective Tissue Disease 64
309 P HMC002 Homocystinuria 52
310 HYP017 Hypophosphatemia 48
311 P OSS001 Ossifying Fibroma 46
312 P FRN012 Frontometaphyseal Dysplasia 45
313 PTL009 Patella, Chondromalacia of 40
314 HYP041 Hypochondrogenesis 40
315 CRN049 Craniolenticulosutural Dysplasia 40
316 MCP033 Mucopolysaccharidoses 38
317 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 36
318 c TRN014 Transient Arthritis 34
319 BNS004 Bone Squamous Cell Carcinoma 32
320 RHM013 Rheumatoid Nodulosis 32
321 HYP674 Hyperostosis Cranialis Interna 30
322 ISC005 Ischemic Bone Disease 30
323 c CRB100 Cerebrooculofacioskeletal Syndrome 4 29
324 BND004 Bone Deterioration Disease 29
325 CHN070 Cohen-Gibson Syndrome 28
326 c SNG011 Singleton-Merten Syndrome 1 27
327 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
328 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
329 BNC005 Bone Chondrosarcoma 23
330 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 23
331 CRN272 Craniometadiaphyseal Dysplasia 22
332 c BNB001 Bone Benign Neoplasm 21
333 SPC025 Specific Granule Deficiency 2 21
334 c FBR030 Fibrochondrogenesis 2 19
335 c JVN045 Juvenile Ossifying Fibroma 17
336 SND010 Sinding-Larsen-Johansson Disease 10
337 ORB004 Orbital Osteomyelitis 9
338 BNM012 Bone Ameloblastoma 6
339 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
340 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
341 P MSC003 Muscular Atrophy 55
342 AGN012 Agnathia-Otocephaly Complex 55
343 c HYP293 Hypophosphatasia, Adult 52
344 c HYP292 Hypophosphatasia, Infantile 51
345 c DMN023 Diamond-Blackfan Anemia 1 50
346 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
347 ASP005 Asphyxiating Thoracic Dystrophy 46
348 c ACH042 Achondrogenesis, Type Ib 45
349 c BRC052 Brachydactyly, Type B2 44
350 FCL041 Focal Myositis 43
351 c SCL042 Sclerosteosis 2 43
352 c PRG001 Progressive Muscular Atrophy 41
353 TRN004 Trench Fever 40
354 GNT001 Giant Cell Reparative Granuloma 39
355 P PRT042 Parietal Foramina 39
356 P ACR062 Acroosteolysis 38
357 OST008 Osteosclerotic Myeloma 38
358 SLT001 Solitary Osseous Plasmacytoma 36
359 c SCL045 Sclerosteosis 1 35
360 c VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 33
361 RHM008 Rheumatic Myocarditis 32
362 c DMN021 Diamond-Blackfan Anemia 6 32
363 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
364 c PRT059 Parietal Foramina 1 31
365 WDW001 Widow's Peak 30
366 ACR095 Acrofacial Dysostosis, Cincinnati Type 29
367 c FRN049 Frontometaphyseal Dysplasia 1 27
368 c SMT018 Smith-Mccort Dysplasia 2 27
369 c PRT060 Parietal Foramina 2 27
370 HYP754 Hypophosphatemic Bone Disease 26
371 c DMN017 Diamond-Blackfan Anemia 10 25
372 LBN004 Liebenberg Syndrome 25
373 c DMN022 Diamond-Blackfan Anemia 9 25
374 P VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24
375 c DMN019 Diamond-Blackfan Anemia 4 24
376 c DMN006 Diamond-Blackfan Anemia 3 24
377 c DMN024 Diamond-Blackfan Anemia 7 23
378 c DMN018 Diamond-Blackfan Anemia 5 23
379 TRS030 Tarsal Coalition 23
380 c DMN005 Diamond-Blackfan Anemia 2 23
381 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
382 c DMN029 Diamond-Blackfan Anemia 11 22
383 c DMN020 Diamond-Blackfan Anemia 8 21
384 IDP069 Idiopathic Avascular Necrosis 21
385 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
386 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 21
387 c DMN028 Diamond-Blackfan Anemia 12 20
388 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
389 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 20
390 MZB001 Mazabraud Syndrome 19
391 KNN010 Kennerknecht Syndrome 19
392 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
393 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 19
394 FXL001 Foix-Alajouanine Syndrome 19
395 HDZ001 Hadziselimovic Syndrome 19
396 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 18
397 ELS005 Elastoma 18
398 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
399 VLF001 Velofacioskeletal Syndrome 17
400 OST173 Osteoradionecrosis of the Mandible 17
401 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
402 c MYF010 Myofibromatosis, Infantile, 2 17
403 c PRT113 Parietal Foramina 3 16
404 P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 16
405 c BLN020 Blount Disease, Infantile 16
406 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
407 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
408 CLB032 Coloboma of Macula and Skeletal Anomalies 15
409 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 14
410 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 14
411 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 14
412 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 14
413 BLN021 Blount Disease, Adolescent 14
414 MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 14
415 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 14
416 PHL009 Phalangeal Microgeodic Syndrome 14
417 ACH002 Achilles Bursitis 14
418 EPM003 Epimetaphyseal Skeletal Dysplasia 13
419 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 13
420 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 13
421 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 13
422 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 13
423 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
424 ISL032 Isolated Bone Marrow Mastocytosis 12
425 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
426 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 12
427 THN012 Thanatophoric Dysplasia, Glasgow Variant 11
428 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 11
429 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 11
430 OSS016 Ossified Ear Cartilages 10
431 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 10
432 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
433 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
434 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 10
435 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 10
436 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 10
437 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
438 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
439 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 10
440 NSL024 Nasal Bones, Absence of 10
441 BNL001 Bone Leiomyosarcoma 10
442 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
443 OST161 Osteoma of Middle Ear 9
444 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 9
445 OST155 Osteomas of Mandible 9
446 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9
447 ANG057 Angioosteohypotrophic Syndrome 8
448 IDP078 Idiopathic Phalangeal Acro-Osteolysis 7
449 BNP003 Bone Pain, Periodic 7
450 PBC001 Pubic Bone Dysplasia 7
451 EXP005 Expansile Bone Lesions 7
452 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
453 INV019 Inverse Klippel-Trénaunay Syndrome 6
454 c LRP007 Lrp5-Related Primary Osteoporosis 6
455 OST166 Osteoma of Cranial Vault, Familial 6
456 P BNS005 Bone Size Quantitative Trait Locus 1 6
457 c BNS006 Bone Size Quantitative Trait Locus 2 6
458 CNT014 Central Nervous System Osteosarcoma 6
459 PRM165 Primary Plasmacytoma of the Bone 6
460 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
461 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 5
462 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 5
463 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 5
464 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
465 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
466 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
467 SST002 Sost-Related Sclerosing Bone Dysplasias 3
468 BND008 Bone Dysplasia Moore Type 3
469 SKL008 Skeletal Dysplasia Orofacial Anomalies 3
470 BND005 Bone Dysplasia Azouz Type 3
471 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
472 c SYS001 Systemic Lupus Erythematosus 88
473 MYL069 Myeloma, Multiple 85
474 P FNC027 Fanconi Anemia, Complementation Group a 82
475 PFF001 Pfeiffer Syndrome 78
476 P SRC025 Sarcoidosis 1 76
477 P NRF023 Neurofibromatosis, Type Ii 75
478 MRF001 Marfan Syndrome 75
479 BHC003 Behcet Syndrome 73
480 KWS002 Kawasaki Disease 72
481 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 70
482 P SYS005 Systemic Scleroderma 69
483 P LPS004 Lupus Erythematosus 69
484 SMT004 Smith-Lemli-Opitz Syndrome 69
485 c PRM196 Premature Ovarian Failure 1 69
486 P TMP003 Temporal Arteritis 69
487 P AMY004 Amyloidosis 68
488 GRN037 Granulomatosis with Polyangiitis 68
489 STH001 Saethre-Chotzen Syndrome 67
490 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
491 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 66
492 P HYD006 Hydrocephalus 66
493 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
494 c MCP050 Mucopolysaccharidosis, Type Ii 64
495 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
496 P ART023 Arthropathy 64
497 P GCH001 Gaucher's Disease 64
498 P RHN004 Rhinitis 62
499 P MCK013 Meckel Syndrome, Type 1 62
500 P SHW006 Shwachman-Diamond Syndrome 1 62
501 c MCP049 Mucopolysaccharidosis, Type Vii 62
502 P HST010 Histiocytosis 61
503 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
504 c GCH015 Gaucher Disease, Type I 61
505 GT001 Gout 60
506 ERD001 Erdheim-Chester Disease 60
507 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
508 P OCL013 Oculodentodigital Dysplasia 60
509 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
510 LCR014 Lacrimoauriculodentodigital Syndrome 59
511 P SJG008 Sjogren Syndrome 59
512 P CRN108 Cranioectodermal Dysplasia 1 59
513 GRN051 Granulomatous Disease, Chronic, X-Linked 58
514 P SCL018 Scoliosis 58
515 P HLL001 Hallermann-Streiff Syndrome 58
516 P ANG015 Angioedema 57
517 KLP010 Klippel-Trenaunay-Weber Syndrome 57
518 P AGG001 Aggressive Periodontitis 56
519 GDP001 Goodpasture Syndrome 56
520 P VNB005 Van Buchem Disease 56
521 P SPN052 Spondyloarthropathy 56
522 SPN019 Spondylolisthesis 56
523 ASP002 Aspartylglucosaminuria 55
524 HRL003 Hurler Syndrome 55
525 OST024 Osteoporosis-Pseudoglioma Syndrome 55
526 c OST163 Osteopetrosis, Autosomal Recessive 3 55
527 c CRN139 Cornelia De Lange Syndrome 1 55
528 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
529 MLT135 Multiple Sulfatase Deficiency 54
530 c GCH016 Gaucher Disease, Type Ii 54
531 c ACH041 Achondrogenesis, Type Ii 54
532 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 54
533 SPN051 Spondylitis 54
534 P OTS001 Otosclerosis 53
535 ANK001 Ankylosis 53
536 HMF009 Hemifacial Hyperplasia 53
537 c CHL140 Chilblain Lupus 1 53
538 GLC012 Galactosialidosis 52
539 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 52
540 DGN001 Degenerative Disc Disease 52
541 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
542 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
543 c FNC042 Fanconi Anemia, Complementation Group D2 52
544 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 51
545 CTY001 Cat Eye Syndrome 51
546 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 51
547 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
548 FLT011 Felty Syndrome 51
549 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
550 P SMP003 Simpson-Golabi-Behmel Syndrome 50
551 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
552 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
553 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
554 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 49
555 c GCH017 Gaucher Disease, Type Iii 49
556 PLY112 Polyarteritis Nodosa, Childhood-Onset 49
557 HMR002 Hemarthrosis 49
558 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
559 P RDL002 Radioulnar Synostosis 49
560 P FNC044 Fanconi Anemia, Complementation Group C 49
561 SYN005 Synostosis 48
562 DRM013 Dermoid Cyst 48
563 ACR058 Acrofacial Dysostosis 1, Nager Type 48
564 P FNG006 Feingold Syndrome 1 48
565 c CRP023 Carpenter Syndrome 1 48
566 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
567 c ANG068 Angioedema, Hereditary, Type I 48
568 P CHN059 Chondrocalcinosis 47
569 DRG013 Drug-Induced Lupus Erythematosus 47
570 SND002 Sneddon Syndrome 47
571 c SCK009 Seckel Syndrome 1 47
572 c HYD064 Hydrocephalus, Congenital, 1 46
573 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
574 CLB002 Clubfoot 46
575 P MLT072 Multiple Synostoses Syndrome 46
576 SHR098 Short-Rib Thoracic Dysplasia 12 46
577 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
578 c NML003 Nemaline Myopathy 2 45
579 c PRM294 Primary Sjögren Syndrome 45
580 VLL003 Villonodular Synovitis 45
581 P MNN018 Mannosidosis 45
582 P CPL003 Capillary Leak Syndrome 45
583 c OTP007 Otopalatodigital Syndrome, Type Ii 45
584 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
585 c SYS043 Systemic Lupus Erythematosus 1 45
586 c BRC060 Brachydactyly, Type E2 45
587 c FNC047 Fanconi Anemia, Complementation Group Q 44
588 c NML002 Nemaline Myopathy 1 44
589 c JVN003 Juvenile Xanthogranuloma 44
590 SPN036 Spinal Chordoma 44
591 CHN053 Chondromyxoid Fibroma 44
592 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
593 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 44
594 c MCK012 Meckel Syndrome, Type 6 44
595 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
596 c ACR116 Aicardi-Goutieres Syndrome 1 44
597 c FNC058 Fanconi Anemia, Complementation Group R 44
598 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
599 DYS018 Dysostosis 43
600 c BRC062 Brachydactyly, Type D 43
601 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
602 EPC002 Epicondylitis 43
603 c CNG023 Congenital Fibrosarcoma 43
604 ESN017 Eosinophilic Granuloma 42
605 c FNC056 Fanconi Anemia, Complementation Group V 42
606 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
607 c NML005 Nemaline Myopathy 4 42
608 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
609 c FNC052 Fanconi Anemia, Complementation Group T 42
610 HYL004 Hyaline Fibromatosis Syndrome 42
611 CLV002 Clivus Chordoma 42
612 c NML004 Nemaline Myopathy 3 42
613 SPN331 Spondyloocular Syndrome 42
614 c FNC025 Fanconi Anemia, Complementation Group J 41
615 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
616 MYH012 Myhre Syndrome 41
617 RHM035 Rheumatic Fever-Related Antigen 41
618 c FNC045 Fanconi Anemia, Complementation Group F 41
619 c CHR048 Chronic Rhinitis 41
620 c FNC029 Fanconi Anemia, Complementation Group I 41
621 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
622 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
623 GNT031 Genitopatellar Syndrome 41
624 c FNC057 Fanconi Anemia, Complementation Group U 41
625 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
626 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
627 ISL121 Isolated Split Hand-Split Foot Malformation 41
628 PDT035 Pediatric Systemic Lupus Erythematosus 40
629 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
630 c SCK015 Seckel Syndrome 2 40
631 c SCP001 Sc Phocomelia Syndrome 40
632 c FNC032 Fanconi Anemia, Complementation Group B 40
633 c SPL034 Split-Hand/foot Malformation 4 40
634 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
635 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
636 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 40
637 P GNG010 Gangliosidosis Gm2 40
638 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
639 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
640 SPN029 Spondylolysis 39
641 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
642 c TYP024 Type Ii Mixed Cryoglobulinemia 39
643 IDP070 Idiopathic Scoliosis 39
644 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 39
645 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
646 DPH019 Diaphanospondylodysostosis 38
647 HRL004 Hurler-Scheie Syndrome 38
648 c FNC023 Fanconi Anemia, Complementation Group N 38
649 c MCL016 Mucolipidosis Iii Gamma 38
650 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
651 c OST126 Osteopetrosis, Autosomal Recessive 1 38
652 c PRM093 Premature Ovarian Failure 7 38
653 TTR016 Tetra-Amelia Syndrome 38
654 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
655 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
656 c MCP051 Mucopolysaccharidosis, Type Ix 38
657 c SPL070 Split-Hand/foot Malformation 2 38
658 c ADL019 Adult Fibrosarcoma 38
659 c FNC028 Fanconi Anemia, Complementation Group L 37
660 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
661 SHL001 Shoulder Impingement Syndrome 37
662 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
663 HYP007 Hypermobility Syndrome 37
664 c INF086 Inflammatory Bowel Disease 3 37
665 EST007 Estrogen Resistance 37
666 MND025 Mandibulofacial Dysostosis with Alopecia 37
667 LTT002 Letterer-Siwe Disease 37
668 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
669 FNC030 Fanconi Anemia, Complementation Group G 37
670 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
671 c MCK014 Meckel Syndrome, Type 5 37
672 c CNG188 Congenital Disorder of Glycosylation, Type if 36
673 c ATS076 Autosomal Recessive Stickler Syndrome 36
674 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 36
675 PRS037 Periostitis 36
676 ALG027 Al-Gazali-Bakalinova Syndrome 36
677 c INF087 Inflammatory Bowel Disease 4 36
678 INF159 Infantile Sialic Acid Storage Disease 36
679 P GLP001 Geleophysic Dysplasia 36
680 c SVR040 Severe Congenital Nemaline Myopathy 36
681 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
682 P NNT042 Neonatal Lupus Erythematosus 36
683 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 36
684 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 35
685 MYL002 Myelophthisic Anemia 35
686 STL007 Steel Syndrome 35
687 c CNG379 Congenital Disorder of Glycosylation, Type It 35
688 c SPL033 Split-Hand/foot Malformation 6 35
689 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
690 c MCK033 Meckel Syndrome, Type 4 35
691 TRM011 Terminal Osseous Dysplasia 35
692 c FNC048 Fanconi Anemia, Complementation Group O 35
693 PRK003 Parkes Weber Syndrome 35
694 OLC001 Olecranon Bursitis 35
695 P CXV002 Coxa Vara 35
696 MST019 Mastoiditis 34
697 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
698 HYD003 Hydrarthrosis 34
699 c NML006 Nemaline Myopathy 5 34
700 ISL062 Isolated Plagiocephaly 34
701 NNT039 Neonatal Marfan Syndrome 34
702 HYP679 Hypoglossia-Hypodactylia 34
703 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
704 CNS013 Constricting Bands, Congenital 34
705 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
706 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 34
707 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
708 c SPL025 Split-Hand/foot Malformation 5 33
709 c GLP003 Geleophysic Dysplasia 1 33
710 c WLL036 Weill-Marchesani Syndrome 1 33
711 IDP041 Idiopathic Recurrent Pericarditis 33
712 CHN009 Chondroid Chordoma 33
713 c MCK034 Meckel Syndrome, Type 8 33
714 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
715 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
716 P ATL001 Atelosteogenesis 33
717 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
718 P OMD003 Omodysplasia 33
719 P MTP005 Metaphyseal Anadysplasia 33
720 c INF092 Inflammatory Bowel Disease 9 32
721 BRC004 Brachydactyly-Syndactyly Syndrome 32
722 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
723 WLD005 Wild Type Attr Amyloidosis 32
724 c INT274 Intermediate Congenital Nemaline Myopathy 32
725 c PRD039 Periodontitis, Aggressive, 1 32
726 ANG049 Angioedema Induced by Ace Inhibitors 32
727 c GLP004 Geleophysic Dysplasia 2 32
728 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
729 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 32
730 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
731 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
732 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
733 c WLL037 Weill-Marchesani Syndrome 2 31
734 TBR007 Tuberculum Sellae Meningioma 31
735 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
736 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
737 c ACQ027 Acquired Cutis Laxa 31
738 c CRN109 Cranioectodermal Dysplasia 2 31
739 c SCK011 Seckel Syndrome 5 31
740 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
741 c OTS005 Otosclerosis 1 30
742 c SCK010 Seckel Syndrome 4 30
743 CRN264 Craniosynostosis with Fibular Aplasia 30
744 c ACR081 Aicardi-Goutieres Syndrome 6 30
745 PTL002 Patellofemoral Pain Syndrome 30
746 c STS007 Sotos Syndrome 2 30
747 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 29
748 c ART104 Arthrogryposis, Distal, Type 5d 29
749 VND005 Van Den Ende-Gupta Syndrome 29
750 BNG069 Benign Cephalic Histiocytosis 29
751 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
752 MLR023 Melorheostosis, Isolated 29
753 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
754 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
755 c RBN008 Rubinstein-Taybi Syndrome 2 29
756 ISL096 Isolated Klippel-Feil Syndrome 29
757 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
758 P ADL037 Adult Xanthogranuloma 28
759 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
760 PTR002 Petroclival Meningioma 28
761 IGG014 Igg4-Related Sclerosing Cholangitis 28
762 c INF089 Inflammatory Bowel Disease 6 28
763 P TRC031 Trichorhinophalangeal Syndrome 28
764 EPP010 Epiphysiolysis of the Hip 28
765 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
766 c RBN020 Robinow Syndrome, Autosomal Dominant 3 28
767 c SYN084 Synpolydactyly 1 28
768 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 28
769 c SYM022 Symphalangism, Proximal, 1a 28
770 P DSB002 Desbuquois Dysplasia 28
771 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
772 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
773 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
774 c INF078 Inflammatory Bowel Disease 2 28
775 c FNC062 Fanconi Anemia, Complementation Group S 28
776 KMM001 Kummell's Disease 28
777 P SKL005 Skull Base Meningioma 27
778 HLS001 Heel Spur 27
779 ANG062 Angioosteohypertrophic Syndrome 27
780 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 27
781 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
782 c ART122 Arthrogryposis, Distal, Type 8 27
783 P KNN002 Kenny-Caffey Syndrome 27
784 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
785 c INF075 Inflammatory Bowel Disease 16 27
786 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
787 c CRP022 Carpenter Syndrome 2 27
788 ASS004 Aase-Smith Syndrome I 27
789 c INF088 Inflammatory Bowel Disease 5 27
790 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
791 c PSD107 Pseudo-Torch Syndrome 2 27
792 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
793 ACR017 Acrofacial Dysostosis 27
794 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
795 c ANG045 Angioedema, Hereditary, Type Iii 27
796 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
797 c OST120 Osteopetrosis, Autosomal Recessive 5 26
798 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
799 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
800 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
801 c FRN033 Frontonasal Dysplasia 2 26
802 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 26
803 ORB011 Orbit Rhabdomyosarcoma 26
804 ISL061 Isolated Brachycephaly 26
805 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
806 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
807 P NNT006 Neonatal Myasthenia Gravis 26
808 PRR001 Periarthritis 26
809 c MRG015 Meier-Gorlin Syndrome 7 26
810 c MCK028 Meckel Syndrome 13 26
811 ISL089 Isolated Scaphocephaly 26
812 c NML022 Nemaline Myopathy 10 25
813 LMB069 Lamb-Shaffer Syndrome 25
814 c ACR103 Acrofrontofacionasal Dysostosis 1 25
815 c DSB005 Desbuquois Dysplasia 2 25
816 IGG008 Igg4-Related Mesenteritis 25
817 c SYS069 Systemic Lupus Erythematosus 6 25
818 c MRG010 Meier-Gorlin Syndrome 3 25
819 c WLL040 Weill-Marchesani Syndrome 4 25
820 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 25
821 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 25
822 c CRN215 Cornelia De Lange Syndrome 4 25
823 CVR001 Cavernous Sinus Meningioma 25
824 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
825 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 25
826 EPP011 Epiphyseal Chondrodysplasia, Miura Type 25
827 c FRN032 Frontonasal Dysplasia 3 25
828 P ACR020 Acropectorovertebral Dysplasia 25
829 c MCK035 Meckel Syndrome, Type 10 25
830 ISL087 Isolated Oxycephaly 24
831 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
832 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
833 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 24
834 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
835 c OTF003 Otofaciocervical Syndrome 2 24
836 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
837 CRN266 Craniofacial Dyssynostosis with Short Stature 24
838 c DKP001 Dk Phocomelia Syndrome 24
839 c CRN209 Cornelia De Lange Syndrome 5 24
840 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
841 c SCK029 Seckel Syndrome 7 24
842 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 24
843 c FNG009 Feingold Syndrome 2 24
844 c LTH047 Lethal Congenital Contracture Syndrome 3 24
845 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
846 FBR010 Fibrogenesis Imperfecta Ossium 24
847 GNR023 Generalized Eruptive Histiocytosis 24
848 P FRM004 Foramen Magnum Meningioma 24
849 CMB064 Combined Oxidative Phosphorylation Deficiency 24 24
850 c ART131 Arthrogryposis, Distal, Type 4 24
851 c SYS066 Systemic Polyarteritis Nodosa 24
852 c BRC080 Brachydactyly, Type A1, B 23
853 c SYS038 Systemic Lupus Erythematosus 2 23
854 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
855 FBR091 Fibroblastic Rheumatism 23
856 c WLL038 Weill-Marchesani Syndrome 3 23
857 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 23
858 c PRM089 Premature Ovarian Failure 3 23
859 c CRN135 Cornelia De Lange Syndrome 3 23
860 ACR101 Acrocraniofacial Dysostosis 23
861 c NML007 Nemaline Myopathy 6 23
862 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
863 c ADL068 Adult-Onset Nemaline Myopathy 23
864 c SCK037 Seckel Syndrome 9 23
865 c CFF011 Coffin-Siris Syndrome 6 23
866 WLD006 Wild Type Abeta2m Amyloidosis 23
867 LMB003 Lumbosacral Lipoma 23
868 c INF090 Inflammatory Bowel Disease 7 23
869 INF118 Inflammatory Myopathy with Abundant Macrophages 23
870 c SCK038 Seckel Syndrome 10 23
871 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
872 PTL010 Patella Aplasia-Hypoplasia 23
873 IGG015 Igg4-Related Thyroid Disease 23
874 c LTH029 Lethal Congenital Contracture Syndrome 9 23
875 PRG077 Progressive Nodular Histiocytosis 23
876 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 23
877 MRF019 Marfan Lipodystrophy Syndrome 22
878 ULN023 Ulnar Hypoplasia 22
879 c TRC073 Treacher Collins Syndrome 2 22
880 P PHC014 Phocomelia 22
881 HGH021 Hughes-Stovin Syndrome 22
882 c CFF006 Coffin-Siris Syndrome 5 22
883 c PRM254 Premature Ovarian Failure 11 22
884 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
885 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
886 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
887 c INF072 Inflammatory Bowel Disease 11 22
888 c NML010 Nemaline Myopathy 7 22
889 PLC002 Plica Syndrome 22
890 RFM002 Roifman-Chitayat Syndrome 22
891 c EHL065 Ehlers-Danlos Syndrome, Type V 22
892 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 22
893 TBL006 Tibial Adamantinoma 22
894 c TRC078 Trichohepatoenteric Syndrome 2 22
895 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
896 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
897 c LTH030 Lethal Congenital Contracture Syndrome 8 22
898 c BRC075 Brachydactyly, Type A1, C 22
899 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 22
900 c LTH032 Lethal Congenital Contracture Syndrome 7 22
901 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
902 RDL022 Radial Hemimelia 22
903 c PRM192 Premature Ovarian Failure 8 22
904 c MCK036 Meckel Syndrome, Type 9 22
905 c FNC061 Fanconi Anemia, Complementation Group W 22
906 c SCK033 Seckel Syndrome 8 22
907 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 22
908 c CLC055 Cole-Carpenter Syndrome 2 22
909 MSL005 Mseleni Joint Disease 21
910 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
911 c MRG009 Meier-Gorlin Syndrome 2 21
912 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
913 DGT002 Digital Clubbing, Isolated Congenital 21
914 c NML021 Nemaline Myopathy 9 21
915 c LTH031 Lethal Congenital Contracture Syndrome 6 21
916 c BRC105 Brachydactyly, Type A1, D 21
917 c INF162 Inflammatory Bowel Disease 25 21
918 c MRG011 Meier-Gorlin Syndrome 4 21
919 PLV015 Pelvis-Shoulder Dysplasia 21
920 c STC012 Stickler Syndrome, Type Iv 21
921 c MRG014 Meier-Gorlin Syndrome 6 21
922 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
923 c SYN088 Synpolydactyly 2 21
924 CRN200 Craniosynostosis and Dental Anomalies 21
925 c PRM207 Premature Ovarian Failure 10 21
926 SWN003 Sweeney-Cox Syndrome 21
927 P OVR096 Overlap Myositis 21
928 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 21
929 c PRV016 Periventricular Nodular Heterotopia 6 21
930 SGL002 Sagliker Syndrome 21
931 c THR096 Three M Syndrome 3 21
932 ISL084 Isolated Trigonocephaly 21
933 c MCK020 Meckel Syndrome, Type 11 21
934 c ANM034 Anemia, Sideroblastic, 4 20
935 c MRG012 Meier-Gorlin Syndrome 5 20
936 c STC011 Stickler Syndrome, Type V 20
937 DYS134 Dysspondyloenchondromatosis 20
938 MNS012 Monostotic Fibrous Dysplasia 20
939 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
940 SPC002 Specific Bursitis Often of Occupational Origin 20
941 c ART060 Arthrogryposis, Distal, Type 1b 20
942 CNG284 Congenital Pseudoarthrosis of the Tibia 20
943 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
944 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 20
945 c TWN010 Townes-Brocks Syndrome 2 20
946 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 20
947 c PRM150 Primary Localized Amyloidosis 20
948 CNG522 Congenital Disorder of Glycosylation with Defective Fucosylation 20
949 c INF079 Inflammatory Bowel Disease 20 20
950 AFR001 African Histoplasmosis 20
951 INT182 Intermittent Hydrarthrosis 20
952 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 20
953 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
954 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 20
955 c HYD042 Hydrocephalus, Autosomal Dominant 20
956 c ANX008 Anauxetic Dysplasia 2 20
957 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
958 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
959 c SCK032 Seckel Syndrome 6 19
960 c STS009 Sotos Syndrome 3 19
961 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
962 c SYS046 Systemic Lupus Erythematosus 3 19
963 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 19
964 MSM018 Mesomelic Limb Shortening and Bowing 19
965 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 19
966 c PRM253 Premature Ovarian Failure 13 19
967 c PRM090 Premature Ovarian Failure 6 19
968 c EPP026 Epiphyseal Dysplasia, Multiple, 7 19
969 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
970 c CHL114 Chilblain Lupus 2 19
971 c PRM091 Premature Ovarian Failure 2b 19
972 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
973 c THR069 Three M Syndrome 2 19
974 c SPN121 Spondylocostal Dysostosis 1 19
975 c MLT078 Multiple Synostoses Syndrome 3 19
976 CRN224 Craniofaciofrontodigital Syndrome 19
977 c CFF012 Coffin-Siris Syndrome 7 19
978 HST018 Histiocytosis, Progressive Mucinous 18
979 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
980 c AHM002 Ah Amyloidosis 18
981 c PLY103 Polydactyly, Postaxial, Type A5 18
982 c SX2003 Six2-Related Frontonasal Dysplasia 18
983 c PRM094 Premature Ovarian Failure 5 18
984 CTN031 Cutaneous Pseudolymphoma 18
985 c PRM255 Premature Ovarian Failure 12 18
986 c SYS051 Systemic Lupus Erythematosus 4 18
987 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
988 c GLP007 Geleophysic Dysplasia 3 18
989 c TRN062 Transient Neonatal Myasthenia Gravis 18
990 PPL038 Papular Xanthoma 18
991 c PLY163 Polydactyly, Postaxial, Type A2 18
992 c PSR022 Psoriasis 15, Pustular 18
993 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
994 IGG009 Igg4-Related Ophthalmic Disease 18
995 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
996 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
997 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
998 c PRM191 Premature Ovarian Failure 9 17
999 IGG013 Igg4-Related Pachymeningitis 17
1000 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 17
1001 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
1002 c XLN229 X-Linked Chondrodysplasia Punctata 2 17
1003 c MRG016 Meier-Gorlin Syndrome 8 17
1004 c INF073 Inflammatory Bowel Disease 12 17
1005 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
1006 c OTS007 Otosclerosis 3 17
1007 c CRN298 Carney Complex, Type 2 17
1008 MMM002 Mammary-Digital-Nail Syndrome 17
1009 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
1010 c MLT166 Multiple Synostoses Syndrome 4 17
1011 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
1012 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
1013 c SYM019 Symphalangism, Proximal, 1b 17
1014 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1015 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 17
1016 c SYS053 Systemic Lupus Erythematosus 5 17
1017 P PRM176 Premature Ovarian Failure 2a 16
1018 c RBN010 Robinow-Like Syndrome 16
1019 c PLY101 Polydactyly, Postaxial, Type A6 16
1020 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1021 BRC114 Brachyolmia Type 1, Hobaek Type 16
1022 c EFM001 Efemp2-Related Cutis Laxa 16
1023 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1024 c SYS040 Systemic Lupus Erythematosus 10 16
1025 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
1026 RDL031 Radial Aplasia, X-Linked 16
1027 c OTS012 Otosclerosis 10 16
1028 c INF080 Inflammatory Bowel Disease 21 16
1029 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1030 AML053 Amelia, Autosomal Recessive 16
1031 KLL015 Kallmann Syndrome with Spastic Paraplegia 16
1032 c CNT108 Central Polydactyly 16
1033 P ZYG003 Zygodactyly 1 16
1034 c OTS010 Otosclerosis 7 16
1035 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 16
1036 FMR013 Femoral Agenesis/hypoplasia 16
1037 c PLY144 Polydactyly, Postaxial, Type A7 15
1038 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1039 c PRM292 Premature Ovarian Failure 14 15
1040 c SYS041 Systemic Lupus Erythematosus 9 15
1041 c SYS055 Systemic Lupus Erythematosus 12 15
1042 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 15
1043 CNS012 Cono-Spondylar Dysplasia 15
1044 c SPN226 Spondyloarthropathy 2 15
1045 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
1046 c MTP014 Metaphyseal Anadysplasia 2 15
1047 IGG011 Igg4-Related Kidney Disease 15
1048 WHB001 Wahab Syndrome 15
1049 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1050 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1051 c SYS047 Systemic Lupus Erythematosus 7 15
1052 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1053 c INF091 Inflammatory Bowel Disease 8 15
1054 P OTP002 Otopalatodigital Spectrum Disorders 15
1055 RNN006 Reunion Island Larsen Syndrome 15
1056 HYP497 Hyperphalangy 15
1057 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1058 c DVL011 Developmental Dysplasia of the Hip 2 15
1059 c OTS011 Otosclerosis 8 15
1060 c SYS065 Systemic Lupus Erythematosus 11 15
1061 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 15
1062 c SRC024 Sarcoidosis 3 14
1063 LRS009 Larsen-Like Syndrome, Lethal Type 14
1064 c PRM295 Premature Ovarian Failure 15 14
1065 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1066 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1067 c OTS008 Otosclerosis 4 14
1068 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1069 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1070 c INF076 Inflammatory Bowel Disease 18 14
1071 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1072 c SYN040 Synpolydactyly 3 14
1073 VRN007 Variant Abeta2m Amyloidosis 14
1074 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1075 c PSD023 Pseudo-Gaucher Disease 14
1076 TRM018 Traumatic Avascular Necrosis 14
1077 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1078 c OTS006 Otosclerosis 2 14
1079 DPH002 Diaphragma Sellae Meningioma 14
1080 CLV003 Clivus Meningioma 13
1081 SPH003 Sphenoorbital Meningioma 13
1082 c HLL012 Hallermann-Streiff-Like Syndrome 13
1083 c SYS045 Systemic Lupus Erythematosus 14 13
1084 c SYS048 Systemic Lupus Erythematosus 8 13
1085 c SYS052 Systemic Lupus Erythematosus 13 13
1086 c INF083 Inflammatory Bowel Disease 24 13
1087 c INF082 Inflammatory Bowel Disease 23 13
1088 c INF085 Inflammatory Bowel Disease 27 13
1089 c INF084 Inflammatory Bowel Disease 26 13
1090 c INF074 Inflammatory Bowel Disease 15 13
1091 c INF081 Inflammatory Bowel Disease 22 13
1092 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 13
1093 c PLY054 Polydactyly, Postaxial, Type A4 13
1094 CRN204 Craniofacial Conodysplasia 13
1095 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1096 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1097 ACH028 Acheiria 13
1098 HND012 Handigodu Joint Disease 13
1099 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1100 c ACQ036 Acquired Angioedema Type 2 13
1101 APV001 Aapoaiv Amyloidosis 12
1102 SYM014 Symbrachydactyly of Hands and Feet 12
1103 BCP001 Bicipital Tenosynovitis 12
1104 c SYS067 Systemic Lupus Erythematosus 15 12
1105 c INF161 Inflammatory Bowel Disease 28 12
1106 c SYN050 Syndactyly Type 6 12
1107 c PLY053 Polydactyly, Postaxial, Type A3 12
1108 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
1109 INT058 Intraorbital Meningioma 12
1110 c TYP003 Type I Ehlers-Danlos Syndrome 12
1111 BST002 Baastrup's Syndrome 12
1112 IGG010 Igg4-Related Aortitis 12
1113 c PRM222 Primary Polyarteritis Nodosa 12
1114 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 12
1115 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1116 c INF170 Inflammatory Bowel Disease 29 12
1117 IDP040 Idiopathic Eosinophilic Myositis 12
1118 c OTS009 Otosclerosis 5 11
1119 c SPN122 Spondylocostal Dysostosis 2 11
1120 c SPN256 Spondyloarthropathy 3 11
1121 PRM233 Primary Cutaneous Plasmacytosis 11
1122 c FBL003 Fbln5-Related Cutis Laxa 11
1123 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
1124 CLV001 Clivus Chondroid Chordoma 11
1125 c SPN124 Spondylocostal Dysostosis 4 11
1126 c SPN123 Spondylocostal Dysostosis 3 11
1127 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1128 CRN261 Craniosynostosis-Cataract Syndrome 10
1129 PTT005 Pituitary Stalk Meningioma 10
1130 GLS016 Glossopalatine Ankylosis 10
1131 ORB001 Orbit Alveolar Rhabdomyosarcoma 10
1132 c PLY178 Polydactyly, Postaxial, Type A8 10
1133 HMR042 Humero-Ulnar Synostosis 10
1134 FBR007 Fibroosseous Pseudotumor of Digits 10
1135 INF009 Inflammatory Spondylopathy 10
1136 ALC030 Alect2 Amyloidosis 10
1137 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1138 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1139 c ZYG007 Zygodactyly Type 3 10
1140 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 10
1141 CNG277 Congenital Pseudoarthrosis of the Fibula 10
1142 c ANT021 Anterior Foramen Magnum Meningioma 10
1143 ULN014 Ulnar Hemimelia 9
1144 ISC011 Ischio-Vertebral Syndrome 9
1145 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1146 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 9
1147 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1148 c ZYG006 Zygodactyly Type 2 9
1149 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1150 c ACQ035 Acquired Angioedema Type 1 9
1151 SCR036 Sacrum Chordoma 9
1152 SMP006 Simple Cryoglobulinemia 9
1153 BHC001 Behcet's Syndrome Arthropathy 8
1154 TBF001 Tibio-Fibular Synostosis 8
1155 AML037 Amelia of Upper Limb 8
1156 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1157 CNG283 Congenital Pseudoarthrosis of the Femur 8
1158 CNG278 Congenital Pseudoarthrosis of the Radius 8
1159 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1160 c ALP056 Alpha-Mannosidosis, Adult Form 8
1161 c SCN055 Secondary Polyarteritis Nodosa 8
1162 c PST023 Posterior Foramen Magnum Meningioma 8
1163 APD003 Apodia 8
1164 LWR003 Lower Clivus Meningioma 8
1165 UPP001 Upper Clivus Meningioma 8
1166 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1167 CLC050 Calciphylaxis Cutis 8
1168 BPR001 Bipartite Talus 8
1169 c ZYG005 Zygodactyly Type 4 8
1170 c CNG348 Congenital Sialidosis Type 2 7
1171 c TRN008 Transient Arthropathy 7
1172 P JVN036 Juvenile Sialidosis Type 2 7
1173 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
1174 c JVN030 Juvenile Overlap Myositis 7
1175 PRN048 Prenatal Benign Hypophosphatasia 7
1176 SPH002 Sphenocavernous Meningioma 7
1177 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
1178 SNG013 Single-Organ Polyarteritis Nodosa 7
1179 HMR031 Humeral Agenesis/hypoplasia 7
1180 HYP500 Hyperphalangy, Unilateral 7
1181 NNT045 Neonatal Autoimmune Hemolytic Anemia 7
1182 c PRD018 Periodontitis, Aggressive, 2 7
1183 c MLT004 Multiple Skull Base Meningioma 6
1184 CNG287 Congenital Absence of Both Forearm and Hand 6
1185 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1186 CNG289 Congenital Absence/hypoplasia of Thumb 6
1187 HYP501 Hyperphalangy, Bilateral 6
1188 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1189 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1190 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1191 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1192 HYP010 Hypermobility of Coccyx 6
1193 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1194 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1195 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1196 ISL026 Isolated Sternocostoclavicular Hyperostosis 6
1197 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1198 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1199 PHL011 Phalanx Chondroma 6
1200 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1201 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
1202 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1203 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1204 ACR100 Acrofacial Dysostosis, Patagonia Type 6
1205 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1206 c OTS004 Otosclerosis, Familial 5
1207 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1208 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1209 MDL018 Madelung Deformity, Unilateral 5
1210 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1211 CHR512 Cheirospondyloenchondromatosis 5
1212 VSC036 Visceral Calciphylaxis 5
1213 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1214 TNS002 Tenosynovitis of Foot and Ankle 5
1215 AML036 Amelia of Lower Limb 5
1216 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1217 MDL017 Madelung Deformity, Bilateral 5
1218 GNC002 Gonococcal Bursitis 5
1219 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1220 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1221 GNC006 Gonococcal Spondylitis 4
1222 SCN050 Secondary Non-Traumatic Avascular Necrosis 4
1223 c CXV001 Coxa Vara, Congenital 4
1224 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1225 PRG089 Progeria-Associated Arthropathy 3
1226 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
1227 MDF001 Midface Dysplasia 3
1228 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 3
1229 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
1230 GRN013 Greenberg Dysplasia 36
1231 CRD221 Cardiospondylocarpofacial Syndrome 44
1232 BKS003 Beukes Hip Dysplasia 32
1233 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
1234 THM023 Thiemann Disease 20
1235 MCC012 Mccune-Albright Syndrome 66
1236 c LYS021 Loeys-Dietz Syndrome 3 54
1237 ANT003 Antley-Bixler Syndrome 51
1238 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 37
1239 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 28
1240 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
1241 CMP005 Campomelic Dysplasia 65
1242 P MLT007 Multiple Epiphyseal Dysplasia 57
1243 P CMR001 Camurati-Engelmann Disease 56
1244 P THR117 Three M Syndrome 1 52
1245 CHN054 Chondrodysplasia, Blomstrand Type 45
1246 P PRM018 Primary Hypertrophic Osteoarthropathy 45
1247 P BLN001 Blount's Disease 39
1248 NST002 Nestor-Guillermo Progeria Syndrome 29
1249 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28
1250 QZM001 Qazi Markouizos Syndrome 15
1251 OST141 Osteoclastic Giant Cell Tumor of Pancreas 14
1252 NLP001 Nail-Patella Syndrome 55
1253 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 51
1254 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 23
1255 OST150 Osteodysplasia, Familial, Anderson Type 18
1256 SCH068 Schwartz-Jampel Syndrome, Type 1 55
1257 PSD014 Pseudopseudohypoparathyroidism 51
1258 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 49
1259 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 41
1260 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1261 P CLD001 Cleidocranial Dysplasia 65
1262 WVR001 Weaver Syndrome 54
1263 MLT145 Multiple Enchondromatosis, Maffucci Type 52
1264 FLT006 Floating-Harbor Syndrome 45
1265 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 38
1266 STY001 Satoyoshi Syndrome 32
1267 c CLD018 Cleidocranial Dysplasia, Recessive Form 16
1268 FRB005 Freiberg's Disease 14
1269 c SPN225 Spondyloarthropathy 1 75
1270 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 53
1271 SPH001 Sapho Syndrome 53
1272 YNS002 Yunis-Varon Syndrome 49
1273 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 45
1274 FRN039 Frank-Ter Haar Syndrome 38
1275 c ATL011 Atelosteogenesis, Type I 33
1276 KYP002 Kyphomelic Dysplasia 28
1277 c JVN047 Juvenile Spondyloarthropathy 25
1278 SPN008 Spondyloepiphyseal Dysplasia Congenita 57
1279 PSD012 Pseudoachondroplasia 51
1280 PYC001 Pycnodysostosis 50
1281 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 49
1282 PYL017 Pyle Disease 48
1283 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 45
1284 LRW001 Leri-Weill Dyschondrosteosis 42
1285 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
1286 STV003 Stuve-Wiedemann Syndrome 40
1287 c OTP006 Otopalatodigital Syndrome, Type I 40
1288 RHY001 Rhyns Syndrome 39
1289 RHM009 Rheumatoid Lung Disease 37
1290 c ATL015 Atelosteogenesis, Type Ii 30
1291 c BRC047 Bruck Syndrome 1 27
1292 GRR002 Gurrieri Syndrome 24
1293 BRC095 Brachydactyly, Mononen Type 18
1294 BMR003 Beemer Ertbruggen Syndrome 10
1295 CRP001 Carpal Tunnel Syndrome 71
1296 P HYP035 Hypophosphatasia 59
1297 ALK013 Alkaptonuria 58
1298 ARM001 Aromatase Deficiency 52
1299 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 46
1300 c DSB006 Desbuquois Dysplasia 1 45
1301 c EPP012 Epiphyseal Dysplasia, Multiple, 2 37
1302 MTC018 Metachondromatosis 33
1303 ACR016 Acromesomelic Dysplasia 33
1304 SPN154 Spondyloperipheral Dysplasia 31
1305 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 23
1306 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 23
1307 BNP001 Bone Peripheral Neuroepithelioma 15
1308 PNT007 Penttinen-Aula Syndrome 10
1309 WDM002 Wiedemann Oldigs Oppermann Syndrome 7
1310 SRC014 Sarcoma 70
1311 RBR001 Roberts Syndrome 60
1312 SPN041 Spinal Cord Disease 52
1313 CFF003 Caffey Disease 52
1314 SYN031 Synovial Chondromatosis 48
1315 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
1316 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 46
1317 BRD001 Brody Myopathy 43
1318 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 42
1319 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 37
1320 LTR009 Lateral Meningocele Syndrome 36
1321 MTT002 Metatropic Dysplasia 35
1322 HYP596 Hypophosphatasia, Childhood 33
1323 c ACR044 Acroosteolysis Dominant Type 33
1324 P SNG014 Singleton-Merten Syndrome 31
1325 TRC118 Trichodentoosseous Syndrome 31
1326 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
1327 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 29
1328 SPR031 Sprengel Deformity 28
1329 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 28
1330 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 26
1331 SCR025 Scarf Syndrome 25
1332 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 25
1333 c BRC048 Bruck Syndrome 2 24
1334 GRN016 Grant Syndrome 21
1335 ULN007 Ulna Metaphyseal Dysplasia Syndrome 18
1336 c VNB004 Van Buchem Disease, Type 2 18
1337 BTT012 Battaglia-Neri Syndrome 8
1338 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
1339 P MSC005 Muscular Dystrophy 66
1340 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
1341 CRZ001 Crouzon Syndrome 65
1342 P MYP004 Myopathy 63
1343 HLT001 Holt-Oram Syndrome 60
1344 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
1345 ELL001 Ellis-Van Creveld Syndrome 59
1346 c MYP132 Myopathy, Congenital 54
1347 P PLG001 Pelger-Huet Anomaly 53
1348 P LRS001 Larsen Syndrome 53
1349 OCC006 Occipital Horn Syndrome 52
1350 c MSC050 Muscular Dystrophy, Congenital, 1b 51
1351 BLL001 Baller-Gerold Syndrome 51
1352 CRN005 Craniofrontonasal Syndrome 48
1353 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 47
1354 c EPP017 Epiphyseal Dysplasia, Multiple, 1 46
1355 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
1356 P KLP003 Klippel-Feil Syndrome 44
1357 c LRS002 Larsen-Like Syndrome 43
1358 ACH001 Acheiropody 42
1359 RHM014 Rheumatoid Vasculitis 40
1360 PTC001 Potocki-Shaffer Syndrome 38
1361 P SMT022 Smith-Mccort Dysplasia 1 38
1362 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
1363 DNT045 Dental Anomalies and Short Stature 37
1364 CHN057 Chondrodysplasia, Grebe Type 36
1365 LNG040 Langer Mesomelic Dysplasia 35
1366 c CNG112 Congenital Muscular Dystrophy Type 1a 35
1367 12Q002 12q14 Microdeletion Syndrome 31
1368 DGT005 Digital Arthropathy-Brachydactyly, Familial 31
1369 WSM003 Weismann-Netter Syndrome 30
1370 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 30
1371 c ATL012 Atelosteogenesis, Type Iii 29
1372 BNM005 Bone Marrow Necrosis 29
1373 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
1374 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 28
1375 c CRB099 Cerebrooculofacioskeletal Syndrome 3 28
1376 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 27
1377 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
1378 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
1379 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 26
1380 c CMR006 Camurati-Engelmann Disease, Type 2 24
1381 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
1382 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 23
1383 c LM2001 Lama2-Related Muscular Dystrophy 20
1384 SHR023 Short Stature Syndrome, Brussels Type 19
1385 FBL014 Fibular Hemimelia 18
1386 c GNR020 Gne-Related Myopathy 18
1387 c CHN021 Chondrocalcinosis 1 17
1388 VND003 Van Den Bosch Syndrome 16
1389 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 16
1390 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 16
1391 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 14
1392 HNT009 Hunter-Mcalpine Syndrome 14
1393 MGC006 Magic Syndrome 13
1394 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 12
1395 c PSD024 Pseudo Pelger-Huet Anomaly 11
1396 VRL015 Verloes Van Maldergem Marneffe Syndrome 10
1397 MCH009 Michels Caskey Syndrome 9
1398 RZN001 Rozin Hertz Goodman Syndrome 8
1399 c BNG038 Benign Autosomal Dominant Myopathy 6
1400 PTT018 Petit-Fryns Syndrome 6
1401 WRN001 Werner Syndrome 70
1402 SCH036 Scheie Syndrome 69
1403 P KLL001 Kallmann Syndrome 64
1404 P MLG056 Malignant Hyperthermia 62
1405 MNK003 Muenke Syndrome 61
1406 SPN060 Spondylocarpotarsal Synostosis Syndrome 60
1407 c SVR003 Severe Congenital Neutropenia 58
1408 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 57
1409 P STC001 Stickler Syndrome 56
1410 RLP001 Relapsing Polychondritis 56
1411 ARS001 Aarskog-Scott Syndrome 56
1412 P CNT004 Centronuclear Myopathy 55
1413 c PTT057 Pituitary Adenoma 4, Acth-Secreting 53
1414 P ACT010 Acth-Secreting Pituitary Adenoma 52
1415 JCK001 Jackson-Weiss Syndrome 52
1416 P CRN013 Craniodiaphyseal Dysplasia 51
1417 CNN011 Cenani-Lenz Syndactyly Syndrome 51
1418 P FBR025 Fibrochondrogenesis 50
1419 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 49
1420 P SCL048 Sclerosteosis 49
1421 P OCL001 Ocular Albinism 49
1422 ACR013 Acrodysostosis 46
1423 MYP100 Myopathy, X-Linked, with Excessive Autophagy 46
1424 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 46
1425 CNT060 Central Serous Chorioretinopathy 45
1426 PYM001 Pyomyositis 45
1427 c MYP123 Myopathy, Centronuclear, 1 43
1428 P ANX007 Anauxetic Dysplasia 1 42
1429 HYP776 Hyperparathyroidism, Neonatal Severe 42
1430 SPR126 Superior Semicircular Canal Dehiscence 41
1431 c MYP131 Myopathy, Centronuclear, 2 40
1432 c MLG147 Malignant Hyperthermia 1 40
1433 MSS002 Mass Syndrome 39
1434 c EPP013 Epiphyseal Dysplasia, Multiple, 5 39
1435 MYT030 Myotonia, Potassium-Aggravated 39
1436 TRC097 Tracheomalacia 38
1437 ISC016 Ischiocoxopodopatellar Syndrome 36
1438 IMM073 Immunoglobulin a Vasculitis 36
1439 DYS048 Dysplasia Epiphysealis Hemimelica 36
1440 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 36
1441 c ALB024 Albinism, Ocular, Type I 35
1442 c STC015 Stickler Syndrome, Type I 34
1443 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 34
1444 3MC001 3mc Syndrome 2 34
1445 SCH030 Schneckenbecken Dysplasia 32
1446 MSM004 Mesomelia-Synostoses Syndrome 30
1447 c STC013 Stickler Syndrome, Type Ii 30
1448 VRH001 Verheij Syndrome 27
1449 c MYP148 Myopathy, Centronuclear, 5 27
1450 c BRC045 Brachyolmia Type 3 26
1451 PRS051 Parastremmatic Dwarfism 25
1452 c THR110 Thrombocytopenia 6 24
1453 OSB001 Osebold-Remondini Syndrome 24
1454 SHS001 Shashi-Pena Syndrome 23
1455 c MLG148 Malignant Hyperthermia 2 23
1456 c MLG149 Malignant Hyperthermia 3 23
1457 c MYP098 Myopathy, Centronuclear, 4 22
1458 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22
1459 c MLG150 Malignant Hyperthermia 4 22
1460 c MLG151 Malignant Hyperthermia 5 21
1461 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
1462 P CLL020 Collagenopathy Type 2 Alpha 1 20
1463 BSL042 Basilar Impression, Primary 20
1464 c MYP096 Myopathy, Centronuclear, 3 19
1465 GLP002 Geleophysic Dwarfism 18
1466 RBB001 Ribbing Disease 18
1467 c MLG152 Malignant Hyperthermia 6 17
1468 c STC007 Stickler Syndrome, Type 3 17
1469 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 16
1470 PRM291 Premature Aging Syndrome, Okamoto Type 15
1471 BNK001 Banki Syndrome 14
1472 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 14
1473 VNB002 Van Bogaert-Hozay Syndrome 13
1474 DGH001 Doughnut Lesions of Skull, Familial 13
1475 ANP010 Anaplastic Plasmacytoma 12
1476 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 12
1477 c KLL008 Kallmann Syndrome 6 11
1478 FYP001 Faye-Petersen-Ward-Carey Syndrome 11
1479 SKL024 Skeletal-Extraskeletal Angiomatosis 10
1480 c KLL006 Kallmann Syndrome 4 10
1481 c KLL005 Kallmann Syndrome 3 10
1482 CTK001 Cote Katsantoni Syndrome 9
1483 c KLL007 Kallmann Syndrome 5 9
1484 MGR005 Megarbane Syndrome 9
1485 PNS013 Panostotic Fibrous Dysplasia 8
1486 SKL009 Skeletal Dysplasia, San Diego Type 8
1487 c CLL016 Collagenopathy, Types Ii and Xi 7
1488 RCH003 Richieri Costa Da Silva Syndrome 6
1489 CRT006 Cartilage Cancer 6
1490 THD001 Theodor Hertz Goodman Syndrome 6
1491 TRC050 Tricho-Dento-Osseous Syndrome 1 6
1492 HKF001 Ho Kaufman Mcalister Syndrome 6
1493 PNT008 Pointer Syndrome 6
1494 ALS004 Alsing Syndrome 5
1495 KZL005 Kozlowski Warren Fisher Syndrome 5
1496 SND004 Sandhaus Ben-Ami Syndrome 5
1497 CHT003 Chitty Hall Webb Syndrome 5
1498 SLV009 Slavotinek Pike Mills Hurst Syndrome 5
1499 RGN002 Reginato Shiapachasse Syndrome 4
1500 VGN025 Vagneur Triolle Ripert Syndrome 4
1501 LCK002 Lockwood Feingold Syndrome 4
1502 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1503 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
1504 P RHM011 Rheumatoid Arthritis 82
1505 P BDY004 Body Mass Index Quantitative Trait Locus 11 78
1506 P GRF003 Graft-Versus-Host Disease 72
1507 APR006 Apert Syndrome 69
1508 TKY002 Takayasu Arteritis 67
1509 ADL030 Adult-Onset Still's Disease 67
1510 c MCL062 Mucolipidosis Ii Alpha/beta 66
1511 c CHR417 Chronic Graft Versus Host Disease 66
1512 INC002 Inclusion Body Myositis 66
1513 SPN186 Spinal Cord Injury 65
1514 P CRN015 Cornelia De Lange Syndrome 62
1515 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 62
1516 SPN027 Spinal Stenosis 61
1517 PLS011 Plasmacytoma 60
1518 c ALM001 Al Amyloidosis 60
1519 c RHB024 Rhabdomyosarcoma 2 59
1520 P PLY006 Polydactyly 59
1521 SMT008 Smith-Magenis Syndrome 58
1522 MCR088 Microscopic Polyangiitis 58
1523 GRG001 Greig Cephalopolysyndactyly Syndrome 58
1524 ANT009 Antithrombin Iii Deficiency 58
1525 CHR619 Chromosome 2q35 Duplication Syndrome 58
1526 P PLY041 Polymyositis 58
1527 HYP730 Hypogonadotropic Hypogonadism 58
1528 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 58
1529 P RHB003 Rhabdomyosarcoma 57
1530 c ACT135 Acute Graft Versus Host Disease 57
1531 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57
1532 c AMY009 Amyloidosis Aa 56
1533 P STS008 Sotos Syndrome 1 56
1534 P SCK004 Seckel Syndrome 55
1535 ACR011 Acromesomelic Dysplasia, Maroteaux Type 55
1536 ANT039 Antisynthetase Syndrome 55
1537 P INF037 Inflammatory Bowel Disease 54
1538 c BRC078 Brachydactyly, Type A1 54
1539 c BRC051 Brachydactyly, Type B1 54
1540 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 54
1541 SCH002 Schnitzler Syndrome 54
1542 BLD053 Blood Platelet Disease 53
1543 VTM027 Vitamin D-Dependent Rickets, Type 2a 53
1544 c INF071 Inflammatory Bowel Disease 1 53
1545 ESN015 Eosinophilic Fasciitis 52
1546 P MYP087 Myopathy, Tubular Aggregate, 1 52
1547 P WLL002 Weill-Marchesani Syndrome 52
1548 P NLD001 Nail Disease 51
1549 SPN020 Spondylosis 51
1550 c BRC109 Brachydactyly, Type E1 51
1551 PLN005 Palindromic Rheumatism 51
1552 c ART120 Arthrogryposis, Distal, Type 3 50
1553 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1554 P BRC006 Brachydactyly 50
1555 HYP088 Hyper-Igd Syndrome 50
1556 P PRX021 Proximal Symphalangism 49
1557 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1558 c HRD039 Hereditary Amyloidosis 49
1559 c ART144 Arthrogryposis, Distal, Type 1a 49
1560 P ANL018 Analbuminemia 48
1561 c BRC079 Brachydactyly, Type A2 48
1562 P NML001 Nemaline Myopathy 48
1563 NSD001 Nose Disease 47
1564 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
1565 c BDY007 Body Mass Index Quantitative Trait Locus 1 47
1566 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
1567 c RBN009 Robinow Syndrome, Autosomal Recessive 46
1568 c ATS082 Autosomal Dominant Robinow Syndrome 45
1569 MCR225 Macrophage Activation Syndrome 45
1570 P CHN044 Chondrodysplasia Punctata Syndrome 44
1571 CHN010 Chondroma 44
1572 TRS002 Tarsal-Carpal Coalition Syndrome 44
1573 PST049 Postaxial Acrofacial Dysostosis 44
1574 c BRC081 Brachydactyly, Type C 44
1575 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
1576 HRT030 Hartsfield Syndrome 44
1577 BRS064 Bursitis 44
1578 HND004 Hand-Foot-Genital Syndrome 43
1579 c CRN243 Carney Complex, Type 1 43
1580 ENT004 Enthesopathy 43
1581 P PLY147 Polydactyly, Postaxial, Type A1 43
1582 c MCK032 Meckel Syndrome, Type 3 43
1583 c SYS007 Systemic Capillary Leak Syndrome 42
1584 c ATS282 Autosomal Recessive Malignant Osteopetrosis 42
1585 c BDY019 Body Mass Index Quantitative Trait Locus 18 42
1586 P SCL057 Scoliosis, Isolated 1 42
1587 IMM082 Immunodeficiency 18 42
1588 ATN011 Autoinflammation with Infantile Enterocolitis 42
1589 c MCP047 Mucopolysaccharidosis, Type Iva 42
1590 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
1591 c SPN330 Spondylocostal Dysostosis 5 41
1592 CRR002 Currarino Syndrome 41
1593 c BDY020 Body Mass Index Quantitative Trait Locus 19 41
1594 c CRN278 Craniosynostosis 1 41
1595 c FNC024 Fanconi Anemia, Complementation Group D1 41
1596 P PST059 Pustular Psoriasis 41
1597 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
1598 c EPP014 Epiphyseal Dysplasia, Multiple, 4 40
1599 ASK001 Askin's Tumor 40
1600 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
1601 LRN006 Laurin-Sandrow Syndrome 40
1602 PRM057 Paramyotonia Congenita of Von Eulenburg 40
1603 c SCN005 Secondary Hypertrophic Osteoarthropathy 40
1604 PSR016 Psoriatic Juvenile Idiopathic Arthritis 40
1605 c BDY011 Body Mass Index Quantitative Trait Locus 10 40
1606 SYN086 Synostoses, Tarsal, Carpal, and Digital 40
1607 DYG001 Dyggve-Melchior-Clausen Disease 40
1608 c ADM005 Adams-Oliver Syndrome 1 39
1609 c MCK031 Meckel Syndrome, Type 2 39
1610 c ADL027 Adult Dermatomyositis 39
1611 CPM001 Cap Myopathy 39
1612 P SPL061 Split Hand-Foot Malformation 39
1613 c SPL024 Split-Hand/foot Malformation 3 39
1614 P SYN012 Synpolydactyly 38
1615 ORB012 Orbital Cancer 38
1616 MLG141 Malignant Atrophic Papulosis 38
1617 RVL002 Ruvalcaba Syndrome 38
1618 c PSD106 Pseudo-Torch Syndrome 1 38
1619 MSN004 Mesenchymal Cell Neoplasm 38
1620 FBR089 Fibrosclerosis, Multifocal 37
1621 c FML117 Familial Cold Autoinflammatory Syndrome 2 37
1622 c SYS061 Systemic Lupus Erythematosus 16 37
1623 XNT009 Xanthoma Disseminatum 37
1624 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
1625 P YWS001 Yaws 36
1626 OCH001 Ochronosis 36
1627 MYC015 Mycobacterium Fortuitum 36
1628 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 36
1629 TNS014 Tenosynovitis 36
1630 P CRB154 Cerebrocostomandibular Syndrome 36
1631 c SRC023 Sarcoidosis 2 36
1632 c OST110 Osteogenesis Imperfecta, Type Xv 35
1633 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 35
1634 DSM002 Desmosterolosis 35
1635 MSC012 Muscular Dystrophy, Duchenne and Becker Type 35
1636 FMR018 Femoral-Facial Syndrome 35
1637 P SYN059 Syndactyly, Type V 35
1638 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
1639 WLN001 Welander Distal Myopathy 35
1640 ENC014 Enchondroma 35
1641 P ACR106 Acrocephalopolysyndactyly Type Iii 34
1642 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
1643 NRG003 Neurogenic Arthropathy 34
1644 LMB008 Limb-Mammary Syndrome 34
1645 FML307 Familial Calcium Pyrophosphate Deposition 34
1646 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1647 HMF010 Hemifacial Microsomia with Radial Defects 33
1648 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
1649 c OST133 Osteogenesis Imperfecta, Type Xi 33
1650 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1651 c BDY005 Body Mass Index Quantitative Trait Locus 9 33
1652 P DVL012 Developmental Dysplasia of the Hip 1 33
1653 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 33
1654 TTH001 Tooth Ankylosis 32
1655 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 32
1656 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 32
1657 c BDY015 Body Mass Index Quantitative Trait Locus 12 32
1658 c KNN009 Kenny-Caffey Syndrome, Type 1 32
1659 P ACR093 Acrofrontofacionasal Dysostosis 32
1660 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
1661 P PLY148 Polydactyly, Preaxial Ii 31
1662 c BDY010 Body Mass Index Quantitative Trait Locus 4 31
1663 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 31
1664 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 31
1665 c BDY012 Body Mass Index Quantitative Trait Locus 7 31
1666 c BDY006 Body Mass Index Quantitative Trait Locus 8 31
1667 c OMD001 Omodysplasia 1 31
1668 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
1669 CLV004 Calvarial Hyperostosis 31
1670 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1671 ORB009 Orbit Lymphoma 31
1672 UND007 Undifferentiated Connective Tissue Disease 30
1673 MSM016 Mesomelic Dysplasia, Kantaputra Type 30
1674 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
1675 TBL008 Tibial Hemimelia 30
1676 HMR015 Humeroradial Synostosis 30
1677 INN003 Iniencephaly 30
1678 KLB005 Kleeblattschaedel 30
1679 MTP028 Metaphyseal Dysplasia, Spahr Type 30
1680 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
1681 c SYN061 Syndactyly, Type Iv 29
1682 WLD004 Wildervanck Syndrome 29
1683 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1684 FRN022 Frontofacionasal Dysplasia 29
1685 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
1686 OCL040 Oculomaxillofacial Dysostosis 29
1687 c OST127 Osteogenesis Imperfecta, Type X 29
1688 c CRN277 Craniosynostosis 2 29
1689 ACR099 Acrofacial Dysostosis, Catania Type 28
1690 CTN019 Cutaneous Polyarteritis Nodosa 28
1691 c ADM007 Adams-Oliver Syndrome 2 28
1692 P LTH003 Lethal Congenital Contracture Syndrome 28
1693 c CRN134 Cornelia De Lange Syndrome 2 28
1694 MDL024 Madelung Deformity 28
1695 c ACR084 Aicardi-Goutieres Syndrome 7 28
1696 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
1697 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 27
1698 c PLY149 Polydactyly, Preaxial Iv 27
1699 c CRN281 Craniosynostosis 7 27
1700 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 27
1701 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
1702 SPN125 Spondyloenchondrodysplasia 27
1703 BJL001 Bejel 27
1704 c DNT021 Dent Disease 2 27
1705 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1706 c ADM010 Adams-Oliver Syndrome 5 27
1707 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
1708 AKL001 Au-Kline Syndrome 27
1709 PST044 Postorgasmic Illness Syndrome 27
1710 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 27
1711 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
1712 RMR001 Ramer Ladda Syndrome 27
1713 HYP682 Hypertelorism, Teebi Type 27
1714 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 27
1715 STR017 Sternum Cancer 26
1716 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 26
1717 c SYN060 Syndactyly, Type Iii 26
1718 EF001 Eaf 26
1719 c BRC099 Brachydactyly, Type A4 26
1720 FBR028 Fibrosing Mediastinitis 26
1721 HYP648 Hypertension and Brachydactyly Syndrome 26
1722 c CRN110 Cranioectodermal Dysplasia 3 26
1723 c LYS020 Loeys-Dietz Syndrome 5 26
1724 NCR009 Necrobiotic Xanthogranuloma 26
1725 c FRN048 Frontometaphyseal Dysplasia 2 26
1726 c OMD002 Omodysplasia 2 26
1727 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 26
1728 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 26
1729 c PRT063 Proteus-Like Syndrome 26
1730 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
1731 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 26
1732 TMP008 Tempi Syndrome 26
1733 c ACR105 Acrofrontofacionasal Dysostosis 2 26
1734 c OST139 Osteogenesis Imperfecta, Type Xvi 26
1735 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 25
1736 PLY135 Polydactyly, Postaxial, with Progressive Myopia 25
1737 SHR108 Short Stature, Idiopathic, X-Linked 25
1738 CHR159 Charlie M Syndrome 25
1739 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
1740 HSH001 Hashimoto-Pritzker Syndrome 25
1741 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
1742 VSC050 Vascular Malformation, Primary Intraosseous 25
1743 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
1744 c BRT028 Brittle Cornea Syndrome 1 25
1745 PSD030 Pseudodiastrophic Dysplasia 25
1746 c ART112 Arthrogryposis, Distal, Type 10 25
1747 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
1748 NVR001 Nievergelt Syndrome 24
1749 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 24
1750 OCL030 Oculoauriculofrontonasal Syndrome 24
1751 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 24
1752 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 24
1753 c CNG514 Congenital Radioulnar Synostosis 24
1754 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
1755 SYM024 Symphalangism, Distal 24
1756 c CRN111 Cranioectodermal Dysplasia 4 24
1757 c OST138 Osteogenesis Imperfecta, Type Xvii 24
1758 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 24
1759 c JVN019 Juvenile Temporal Arteritis 24
1760 c OST106 Osteopetrosis, Autosomal Recessive 8 24
1761 c INF077 Inflammatory Bowel Disease 19 24
1762 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24
1763 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 24
1764 ACR107 Acrofacial Dysostosis, Palagonia Type 24
1765 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 24
1766 PRP090 Peripheral Dysostosis 24
1767 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
1768 c MCK026 Meckel Syndrome 12 24
1769 IMM120 Immunodeficiency 40 24
1770 P TRC034 Torch Syndrome 24
1771 FMR016 Femur-Fibula-Ulna Syndrome 23
1772 c NML025 Nemaline Myopathy 8 23
1773 SCH024 Schinzel Giedion Syndrome 23
1774 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
1775 c BRC108 Brachydactyly, Type A3 23
1776 TBS009 Teebi-Shaltout Syndrome 23
1777 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 23
1778 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 23
1779 PYR008 Pyriform Sinus Cancer 23
1780 SLL002 Sella Turcica Neoplasm 23
1781 c LTH027 Lethal Congenital Contracture Syndrome 5 23
1782 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 23
1783 BRN123 Branchial Arch Syndrome, X-Linked 23
1784 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 23
1785 c NNT025 Neonatal Systemic Lupus Erythematosus 23
1786 c TRC071 Treacher Collins Syndrome 3 22
1787 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 22
1788 c PRV018 Periventricular Nodular Heterotopia 7 22
1789 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
1790 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 22
1791 c ACR108 Acrocephalopolysyndactyly Type Iv 22
1792 c CRN256 Craniosynostosis 6 22
1793 c ADM009 Adams-Oliver Syndrome 4 22
1794 c ADM012 Adams-Oliver Syndrome 6 22
1795 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1796 THV001 Thauvin-Robinet-Faivre Syndrome 22
1797 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1798 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 22
1799 c ADM008 Adams-Oliver Syndrome 3 22
1800 P FML337 Familial Chilblain Lupus 22
1801 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
1802 ACR019 Acropectoral Syndrome 21
1803 c CRN217 Craniosynostosis 3 21
1804 IND009 Indeterminate Cell Histiocytosis 21
1805 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1806 c MYP088 Myopathy, Tubular Aggregate, 2 21
1807 c PLY136 Polydactyly, Preaxial I 21
1808 c SHW007 Shwachman-Diamond Syndrome 2 21
1809 c ART128 Arthrogryposis, Distal, Type 6 21
1810 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 21
1811 CRY024 Crystal Arthropathies 21
1812 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
1813 SPN349 Spondylometaphyseal Dysplasia, Type A4 21
1814 FCC003 Faciocardiomelic Dysplasia, Lethal 21
1815 c EPP009 Epiphyseal Dysplasia, Multiple, 6 21
1816 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1817 SMM003 Summitt Syndrome 20
1818 KNS006 Kniest-Like Dysplasia, Lethal 20
1819 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
1820 c FML344 Familial Mediterranean Fever, Autosomal Dominant 20
1821 P INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 20
1822 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1823 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 20
1824 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
1825 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
1826 TBT001 Tabatznik Syndrome 20
1827 c LTH039 Lethal Congenital Contracture Syndrome 11 20
1828 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 20
1829 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 20
1830 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 20
1831 SCH031 Scholte Syndrome 20
1832 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 20
1833 c JVN046 Juvenile Polymyositis 20
1834 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 20
1835 IGG017 Igg4-Related Hepatopathy 20
1836 THR032 Thoracolaryngopelvic Dysplasia 20
1837 THR033 Thoracomelic Dysplasia 19
1838 c LTH026 Lethal Congenital Contracture Syndrome 4 19
1839 OTN001 Otoonychoperoneal Syndrome 19
1840 c BRC035 Brachydactyly Type A5 19
1841 c SNG012 Singleton-Merten Syndrome 2 19
1842 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
1843 BRC100 Brachydactyly, Combined B and E Types 19
1844 MTC100 Metacarpal 4-5 Fusion 19
1845 SKL030 Skull Base Cancer 19
1846 ULN005 Ulna and Fibula, Hypoplasia of 19
1847 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 19
1848 SPN353 Spondylometaphyseal Dysplasia, X-Linked 19
1849 c MLT060 Multiple Synostoses Syndrome 2 19
1850 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 19
1851 c CRN216 Craniosynostosis 5 19
1852 RDL030 Radial-Renal Syndrome 19
1853 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 18
1854 SCL051 Scalp Defects and Postaxial Polydactyly 18
1855 HMR016 Humeroradioulnar Synostosis 18
1856 ALR004 Alar Cleft, Isolated 18
1857 DYS180 Dyschondrosteosis and Nephritis 18
1858 c ART054 Arthrogryposis, Distal, Type 2e 18
1859 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
1860 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
1861 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 18
1862 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
1863 APH015 Aphalangy with Hemivertebrae 18
1864 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 18
1865 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
1866 MMB012 Membranous Cranial Ossification, Delayed 18
1867 ORB002 Orbit Embryonal Rhabdomyosarcoma 18
1868 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18
1869 DYS049 Dysplastic Cortical Hyperostosis 18
1870 CNG529 Congenital Femoral Deficiency 17
1871 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 17
1872 c EXS021 Exostoses, Multiple, Type Iii 17
1873 c INF067 Inflammatory Bowel Disease 10 17
1874 SPN155 Spondylospinal Thoracic Dysostosis 17
1875 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 17
1876 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
1877 SGR001 Sugarman Brachydactyly 17
1878 c INF068 Inflammatory Bowel Disease 13 17
1879 TTR010 Tetramelic Monodactyly 17
1880 c PLY137 Polydactyly, Preaxial Iii 17
1881 CMP016 Camptobrachydactyly 17
1882 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 17
1883 ADC008 Adactylia, Unilateral 16
1884 MGP001 Megaepiphyseal Dwarfism 16
1885 c INF160 Inflammatory Bowel Disease 17 16
1886 LNG102 Long-Thumb Brachydactyly Syndrome 16
1887 c INF093 Inflammatory Bowel Disease 14 16
1888 SPN120 Spondylocamptodactyly 16
1889 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1890 GNC010 Genochondromatosis 16
1891 MTT004 Metatarsus Adductus 16
1892 CLD006 Cleidorhizomelic Syndrome 16
1893 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 16
1894 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1895 PLY132 Polysyndactyly, Crossed 16
1896 HRR003 Herrmann Opitz Craniosynostosis 16
1897 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
1898 ECT086 Ectrodactyly-Polydactyly 15
1899 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 15
1900 CHN027 Chondrodysplasia Lethal Recessive 15
1901 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
1902 PST104 Postaxial Oligodactyly, Tetramelic 15
1903 c CNG336 Congenital Analbuminemia 15
1904 CXR001 Coxoauricular Syndrome 15
1905 IGG012 Igg4-Related Submandibular Gland Disease 14
1906 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1907 AST010 Astley-Kendall Syndrome 14
1908 c ATM063 Autoimmune Pancreatitis Type 2 14
1909 GGN006 Gigantiform Cementoma, Familial 14
1910 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 14
1911 ACR027 Acrodysplasia Scoliosis 14
1912 TRC112 Trochlea of the Humerus, Aplasia of 14
1913 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1914 CND008 Condensing Osteitis of the Clavicle 14
1915 STR014 Sternum Lymphoma 13
1916 DRG017 Drug-Induced Vasculitis 13
1917 c ACR046 Acropectorovertebral Dysplasia F Form 13
1918 c SCL049 Scoliosis, Isolated 3 13
1919 c INF052 Infantile Scoliosis 12
1920 c SCL058 Scoliosis, Isolated 2 12
1921 NNT044 Neonatal Antiphospholipid Syndrome 12
1922 c BDY013 Body Mass Index Quantitative Trait Locus 5 12
1923 CRN087 Craniomicromelic Syndrome 11
1924 c BRC037 Brachydactyly Type A7 11
1925 c BDY008 Body Mass Index Quantitative Trait Locus 2 11
1926 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
1927 c BDY014 Body Mass Index Quantitative Trait Locus 6 11
1928 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 11
1929 NNT046 Neonatal Dermatomyositis 10
1930 c BDY018 Body Mass Index Quantitative Trait Locus 15 10
1931 c SCL059 Scoliosis, Isolated 4 10
1932 c SCL060 Scoliosis, Isolated 5 10
1933 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
1934 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1935 VRL016 Verloove Vanhorick Brubakk Syndrome 10
1936 FMR002 Femoral Cancer 9
1937 UNC016 Unclassified Vasculitis 9
1938 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1939 PST031 Postcricoid Region Cancer 9
1940 BNL004 Benallegue Lacete Syndrome 8
1941 MLH001 Melhem Fahl Syndrome 8
1942 ARY001 Aryepiglottic Fold Cancer 8
1943 ORL028 Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy 8
1944 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1945 DBR003 Dobrow Syndrome 8
1946 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
1947 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
1948 SFT001 Soft Tissue Peripheral Neuroepithelioma 8
1949 c CRB078 Cerebrocostomandibular-Like Syndrome 8
1950 NNT043 Neonatal Scleroderma 7
1951 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1952 c OCL037 Oculodentodigital Dysplasia Dominant 7
1953 c CRN093 Craniosynostosis Autosomal Dominant 6
1954 P SYC001 Say Carpenter Syndrome 6
1955 PST098 Postinfectious Vasculitis 5
1956 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1957 c HYD017 Hydrocephalus Autosomal Recessive 5
1958 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
1959 P LGB001 Leg Absence Deformity Cataract 5
1960 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 4
1961 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
1962 FBR011 Fibrodysplasia Ossificans Progressiva 65
1963 P DNT011 Dentinogenesis Imperfecta 47
1964 THR009 Thrombocytopenia-Absent Radius Syndrome 59
1965 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
1966 RCK004 Rickets 65
1967 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 36
1968 KSK002 Kosaki Overgrowth Syndrome 23
1969 PRM288 Permanent Molars, Secondary Retention of 22
1970 BSL036 Basal Cell Nevus Syndrome 69
1971 RTH001 Rothmund-Thomson Syndrome 60
1972 FCL009 Focal Dermal Hypoplasia 56
1973 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 45
1974 ACH018 Achondroplasia and Severe Combined Immunodeficiency 11
1975 PMS001 Poems Syndrome 64
1976 CHR072 Chordoma 64
1977 CHR635 Chromosome 5q Deletion Syndrome 51
1978 CMP075 Campomelia, Cumming Type 27
1979 2Q3001 2q37 Deletion Syndrome 25
1980 MNS016 Monosomy 7 of Bone Marrow 25
1981 CRN070 Corneodermatoosseous Syndrome 22
1982 P FML048 Familial Avascular Necrosis of the Femoral Head 17
1983 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
1984 P LKM002 Leukemia 72
1985 P CRN037 Craniosynostosis 64
1986 MYL031 Myeloproliferative Neoplasm 62
1987 CRC021 Carcinosarcoma 62
1988 CNT105 Central Core Disease of Muscle 62
1989 c ACT073 Acute Leukemia 61
1990 P EHL001 Ehlers-Danlos Syndrome 61
1991 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 57
1992 DYS164 Dyskeratosis Congenita, X-Linked 56
1993 WHM001 Whim Syndrome 54
1994 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 52
1995 3MC003 3mc Syndrome 49
1996 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1997 ISL015 Isolated Growth Hormone Deficiency, Type Ib 45
1998 c LTH008 Lethal Congenital Contracture Syndrome 2 43
1999 MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 36
2000 MXL017 Maxillary Cancer 36
2001 SPN402 Spinal Muscular Atrophy, X-Linked 2 34
2002 c CHN022 Chondrocalcinosis 2 33
2003 MND001 Mandibular Cancer 33
2004 SPN348 Spondylometaphyseal Dysplasia, Axial 31
2005 GHS005 Ghosal Hematodiaphyseal Dysplasia 29
2006 STB002 Satb2-Associated Syndrome 27
2007 THY064 Thyroid Hormone Metabolism, Abnormal 23
2008 c CRN221 Craniosynostosis 4 23
2009 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
2010 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 20
2011 ARC009 Auriculoosteodysplasia 17
2012 c DNT047 Dentinogenesis Imperfecta Type 2 15
2013 c CHR089 Chronic Kidney Failure 73
2014 SCK003 Sickle Cell Anemia 72
2015 P FML018 Familial Mediterranean Fever 72
2016 P CHR012 Chronic Granulomatous Disease 69
2017 P KDN018 Kidney Disease 68
2018 c JVN004 Juvenile Myelomonocytic Leukemia 68
2019 c NRF024 Neurofibromatosis, Type I 68
2020 c SCL052 Scleroderma, Familial Progressive 68
2021 P CNG411 Congenital Disorder of Glycosylation, Type in 66
2022 HTC003 Hutchinson-Gilford Progeria Syndrome 65
2023 P CHR285 Chronic Myelomonocytic Leukemia 65
2024 RCT015 Reactive Arthritis 64
2025 c LCL006 Localized Scleroderma 63
2026 c MCP001 Mucopolysaccharidosis Iii 63
2027 INT146 Intervertebral Disc Disease 62
2028 c MCP052 Mucopolysaccharidosis, Type Vi 62
2029 P OST001 Osteopetrosis 62
2030 c GNG001 Gangliosidosis Gm1 61
2031 PRC002 Paracoccidioidomycosis 61
2032 P LYS001 Loeys-Dietz Syndrome 61
2033 SPT004 Septic Arthritis 61
2034 P FBR017 Fibrosarcoma 60
2035 NRM019 Neuraminidase Deficiency 60
2036 c ORF040 Orofaciodigital Syndrome Viii 60
2037 P DNT020 Dent Disease 1 59
2038 CHL028 Childhood Type Dermatomyositis 59
2039 P DST002 Distal Arthrogryposis 59
2040 P FCS002 Fucosidosis 58
2041 HMF006 Hemifacial Microsomia 58
2042 c OST122 Osteogenesis Imperfecta, Type Iii 58
2043 PYD001 Pyoderma Gangrenosum 57
2044 c MCP004 Mucopolysaccharidosis Iv 57
2045 c PSD108 Pseudohypoparathyroidism, Type Ia 56
2046 c OST135 Osteogenesis Imperfecta, Type I 56
2047 P OST080 Osteogenesis Imperfecta, Type Ii 56
2048 P CRN038 Carney Complex Variant 55
2049 P FNC043 Fanconi Anemia, Complementation Group E 54
2050 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
2051 c MLG054 Malignant Histiocytosis 54
2052 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
2053 P MRG008 Meier-Gorlin Syndrome 1 54
2054 c ART119 Arthrogryposis, Distal, Type 5 54
2055 P ADM011 Adams-Oliver Syndrome 54
2056 CLC001 Calciphylaxis 53
2057 P FML052 Familial Cold Autoinflammatory Syndrome