Bone Diseases Category (2239 diseases)


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

# Family MCID Name MIFTS
1 PGT001 Paget's Disease of Bone 59
2 PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 42
3 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 46
4 OST012 Osteoarthritis 82
5 c HRD104 Hereditary Multiple Osteochondromas 33
6 P OST002 Osteoporosis 76
7 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44
8 BRT054 Brittle Bone Disorder 69
9 P OST001 Osteopetrosis 61
10 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 43
11 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 48
12 P OST080 Osteogenesis Imperfecta, Type Ii 58
13 FML345 Familial Expansile Osteolysis 45
14 CHR288 Chronic Recurrent Multifocal Osteomyelitis 54
15 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28
16 GRC002 Gracile Bone Dysplasia 25
17 BNC003 Bone Cancer 59
18 c OST131 Osteopetrosis, Autosomal Dominant 2 43
19 P RHM011 Rheumatoid Arthritis 80
20 OST159 Osteogenic Sarcoma 59
21 c OST126 Osteopetrosis, Autosomal Recessive 1 36
22 c OST135 Osteogenesis Imperfecta, Type I 56
23 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 52
24 CRT002 Cartilage-Hair Hypoplasia 58
25 OST024 Osteoporosis-Pseudoglioma Syndrome 55
26 c OST129 Osteopetrosis, Autosomal Recessive 2 32
27 c OST134 Osteopetrosis, Autosomal Recessive 6 30
28 c OST136 Osteopetrosis, Autosomal Recessive 7 25
29 c OST122 Osteogenesis Imperfecta, Type Iii 58
30 VNB005 Van Buchem Disease 50
31 c OST164 Osteoporosis, Juvenile 53
32 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 41
33 GRH001 Gorham's Disease 37
34 c FML169 Familial Osteochondritis Dissecans 27
35 c JVN010 Juvenile Rheumatoid Arthritis 69
36 ALB001 Albright's Hereditary Osteodystrophy 52
37 c OST119 Osteogenesis Imperfecta, Type Vii 44
38 OST044 Osteoglophonic Dysplasia 51
39 BSC001 Buschke-Ollendorff Syndrome 48
40 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42
41 c OST163 Osteopetrosis, Autosomal Recessive 3 33
42 c OST120 Osteopetrosis, Autosomal Recessive 5 23
43 c OST137 Osteopetrosis, Autosomal Recessive 4 22
44 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29
45 BNG036 Bone Giant Cell Tumor 48
46 END081 Endosteal Hyperostosis, Autosomal Dominant 47
47 BNW001 Bone Ewing's Sarcoma 46
48 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40
49 KHL001 Kohler's Disease 18
50 HJD001 Hajdu-Cheney Syndrome 62
51 LGG001 Legg-Calve-Perthes Disease 58
52 ONC003 Oncogenic Osteomalacia 45
53 BNT003 Bent Bone Dysplasia Syndrome 40
54 TRC039 Tracheobronchopathia Osteoplastica 15
55 GRD006 Geroderma Osteodysplastica 26
56 c OST125 Osteopetrosis, Autosomal Dominant 1 23
57 c OST121 Osteogenesis Imperfecta, Type Iv 49
58 c OST132 Osteogenesis Imperfecta, Type Vi 46
59 RNS001 Raine Syndrome 45
60 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 25
61 c JVN025 Juvenile Primary Osteoporosis 19
62 PRM243 Primary Bone Cancer 19
63 OST003 Osteonecrosis 63
64 ENC044 Enchondromatosis, Multiple, Ollier Type 53
65 CRT017 Cartilage Disease 48
66 CRP009 Carpotarsal Osteochondromatosis 9
67 BND020 Bone Disease 62
68 OST016 Osteochondrosis 54
69 KBG001 Kbg Syndrome 52
70 OSG001 Osgood-Schlatter's Disease 37
71 AXL003 Axial Osteomalacia 33
72 OST022 Osteopathia Striata with Cranial Sclerosis 47
73 SCH072 Scheuermann Disease 39
74 MJD001 Majeed Syndrome 34
75 MLT033 Multicentric Osteolysis Nephropathy 9
76 P NGT001 Negative Rheumatoid Factor Polyarthritis 7
77 BNM001 Bone Marrow Cancer 54
78 P CNT056 Cantu Syndrome 50
79 c EXS019 Exostoses, Multiple, Type I 47
80 ANR009 Aneurysmal Bone Cysts 46
81 OST014 Osteopoikilosis 38
82 c OST130 Osteogenesis Imperfecta, Type Ix 30
83 c EXS020 Exostoses, Multiple, Type Ii 29
84 c OST128 Osteogenesis Imperfecta, Type Xii 28
85 MLR010 Melorheostosis with Osteopoikilosis 24
86 c EXS021 Exostoses, Multiple, Type Iii 18
87 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 12
88 c CNT094 Cantú Syndrome and Related Disorders 5
89 P OST009 Osteochondritis Dissecans 57
90 OST015 Osteochondrodysplasia 53
91 OST032 Osteofibrous Dysplasia 50
92 c OST124 Osteogenesis Imperfecta, Type V 47
93 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29
94 SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 21
95 c OST118 Osteogenesis Imperfecta, Type Viii 42
96 BNS001 Bone Osteosarcoma 38
97 CYS041 Cystic Angiomatosis of Bone, Diffuse 27
98 KNB002 Kienbock's Disease 26
99 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26
100 BNM015 Bone Mineral Density Quantitative Trait Locus 18 23
101 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 22
102 NVC001 Navicular Bone, Accessory 18
103 BNM030 Bone Mineral Density Quantitative Trait Locus 16 14
104 DNT050 Dentin Dysplasia with Sclerotic Bones 14
105 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 37
106 c OST110 Osteogenesis Imperfecta, Type Xv 33
107 c OST133 Osteogenesis Imperfecta, Type Xi 31
108 c OST127 Osteogenesis Imperfecta, Type X 31
109 c OST123 Osteogenesis Imperfecta, Type Xiii 25
110 c OST109 Osteogenesis Imperfecta, Type Xiv 25
111 PCM001 Pacman Dysplasia 22
112 OSS012 Osseous Heteroplasia, Progressive 56
113 c PSD108 Pseudohypoparathyroidism, Type Ia 56
114 c PSD066 Pseudohypoparathyroidism, Type Ib 53
115 P PSD015 Pseudohypoparathyroidism 50
116 c PSD117 Pseudohypoparathyroidism, Type Ic 36
117 GNT026 Gnathodiaphyseal Dysplasia 35
118 c PSD104 Pseudohypoparathyroidism, Type Ii 33
119 CDS002 Codas Syndrome 32
120 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
121 RNL011 Renal Osteodystrophy 49
122 MLN014 Melnick-Needles Syndrome 38
123 GRD005 Geroderma Osteodysplasticum 28
124 c OST139 Osteogenesis Imperfecta, Type Xvi 24
125 c OST138 Osteogenesis Imperfecta, Type Xvii 23
126 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
127 OSL001 Oslam Syndrome 20
128 OST149 Osteolysis Syndrome, Recessive 19
129 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18
130 FRN047 Frontonasal Dysplasia with Alar Clefts 17
131 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
132 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 15
133 ALT005 Aloi Tomasini Isaia Syndrome 8
134 OST013 Osteosarcoma Arising in Bone Paget's Disease 7
135 DST005 Diastrophic Dysplasia 52
136 OST062 Osteoarthritis with Mild Chondrodysplasia 33
137 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 30
138 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
139 P CHN012 Chondrosarcoma 56
140 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 51
141 KTL001 Keutel Syndrome 39
142 c KNN007 Kenny-Caffey Syndrome, Type 2 29
143 c KNN009 Kenny-Caffey Syndrome, Type 1 29
144 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
145 BNM010 Bone Marrow Failure Syndrome 1 25
146 P KNN002 Kenny-Caffey Syndrome 24
147 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
148 OST117 Osteomesopyknosis 22
149 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 15
150 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 13
151 c LCL005 Localized Chondrosarcoma 9
152 KNS001 Kniest Dysplasia 53
153 c SCN005 Secondary Hypertrophic Osteoarthropathy 44
154 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37
155 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 36
156 JXT003 Juxtacortical Osteosarcoma 35
157 SKL003 Skeletal Muscle Cancer 35
158 PRP024 Peripheral Osteosarcoma 32
159 INH011 Inherited Bone Marrow Failure Syndromes 31
160 PGT007 Paget Disease of Bone 3 28
161 SLT009 Solitary Bone Cyst 28
162 PGT009 Paget Disease of Bone 2, Early-Onset 24
163 c OST106 Osteopetrosis, Autosomal Recessive 8 23
164 CNV007 Conventional Central Osteosarcoma 22
165 SML003 Small Cell Osteogenic Sarcoma 22
166 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 17
167 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16
168 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
169 OST034 Osteogenesis Imperfecta Levin Type 12
170 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
171 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
172 LRY012 Laryngeal Cartilage Cancer 8
173 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 6
174 INF051 Infantile Recurrent Chronic Multifocal Osteomyolitis 3
175 ACH004 Achondroplasia 66
176 OST017 Osteomyelitis 63
177 OST011 Osteomalacia 52
178 EXS001 Exostosis 45
179 OST004 Osteitis Fibrosa 43
180 BMR001 Boomerang Dysplasia 38
181 CLC057 Cole-Carpenter Syndrome 36
182 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 21
183 EKN001 Eiken Syndrome 21
184 BNM011 Bone Marrow Failure Syndrome 2 20
185 PGT011 Paget Disease of Bone 6 19
186 SKL017 Skeletal Dysplasias 48
187 ADM013 Adamantinoma of Long Bones 45
188 GLC086 Glucocorticoid-Induced Osteoporosis 42
189 MRS004 Marshall-Smith Syndrome 41
190 SKL001 Skeletal Tuberculosis 37
191 BNN003 Bone Inflammation Disease 37
192 ACR043 Acromicric Dysplasia 35
193 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 33
194 BNL002 Bone Lymphoma 26
195 HMM004 Hamamy Syndrome 25
196 PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 24
197 BND017 Bone Dysplasia, Lethal, Holmgren Type 21
198 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 20
199 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 19
200 OST047 Osteopenia and Sparse Hair 17
201 PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 17
202 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 17
203 OST058 Osteopoikilosis and Dacryocystitis 16
204 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 15
205 KDN010 Kidney Osteogenic Sarcoma 13
206 SHR027 Short Stature Wormian Bones Dextrocardia 11
207 CHS003 Chest Wall Bone Cancer 9
208 P OST028 Osteochondroma 51
209 P BRC015 Bruck Syndrome 44
210 P EXT032 Extraosseous Osteosarcoma 39
211 BNM029 Bone Mineral Density Quantitative Trait Locus 15 38
212 PRS029 Periosteal Osteogenic Sarcoma 37
213 DYS013 Dysbaric Osteonecrosis 34
214 BNR002 Bone Resorption Disease 32
215 CHP002 Chops Syndrome 31
216 HGH023 High Bone Mass Osteogenesis Imperfecta 26
217 FBR013 Fibrosarcomatous Osteosarcoma 25
218 BNG005 Bone Giant Cell Sarcoma 24
219 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
220 TRC115 Tracheopathia Osteoplastica 23
221 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
222 BNM022 Bone Mineral Density Quantitative Trait Locus 8 21
223 BNP002 Bone Epithelioid Hemangioma 20
224 BRS030 Breast Osteosarcoma 18
225 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
226 PYK001 Pyknoachondrogenesis 16
227 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
228 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15
229 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 15
230 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 15
231 c ADL034 Adult Extraosseous Osteosarcoma 13
232 BNM018 Bone Mineral Density Quantitative Trait Locus 3 13
233 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 13
234 BWN005 Bowing of Long Bones Congenital 12
235 PLY028 Polycystic Bone Disease 12
236 HPT017 Hepatic Osteogenic Sarcoma 10
237 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 9
238 BNM031 Bone Mineral Density Quantitative Trait Locus 17 9
239 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 9
240 MDS009 Mediastinal Osteogenic Sarcoma 8
241 CHL007 Childhood Extraosseous Osteosarcoma 8
242 BNM026 Bone Mineral Density Quantitative Trait Locus 12 8
243 SKL029 Skeletal Dysplasia-T Cell Immunodeficiency-Developmental Delay Syndrome 6
244 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
245 BNF002 Bone Fracture 55
246 HYP068 Hyperostosis 53
247 CZC002 Czech Dysplasia 26
248 BNM016 Bone Mineral Density Quantitative Trait Locus 1 19
249 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 7
250 FBR009 Fibrous Dysplasia 48
251 c LTH008 Lethal Congenital Contracture Syndrome 2 46
252 c LTH007 Lethal Congenital Contracture Syndrome 1 38
253 c DNT025 Dentinogenesis Imperfecta 1 34
254 CHR543 Chromosome 2q37 Deletion Syndrome 34
255 GRN034 Grange Syndrome 32
256 ERL004 Early Yaws 30
257 P LTH003 Lethal Congenital Contracture Syndrome 27
258 c LTH027 Lethal Congenital Contracture Syndrome 5 26
259 c LTH042 Lethal Congenital Contracture Syndrome 10 24
260 c LTH031 Lethal Congenital Contracture Syndrome 6 23
261 c LTH047 Lethal Congenital Contracture Syndrome 3 22
262 c LTH039 Lethal Congenital Contracture Syndrome 11 22
263 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
264 c LTH029 Lethal Congenital Contracture Syndrome 9 21
265 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 21
266 c LTH030 Lethal Congenital Contracture Syndrome 8 21
267 c LTH032 Lethal Congenital Contracture Syndrome 7 20
268 c LTH026 Lethal Congenital Contracture Syndrome 4 20
269 c DNT048 Dentinogenesis Imperfecta Type 3 12
270 PNN003 Panner Disease 10
271 LNG027 Long Bones of Lower Limb Cancer 8
272 P OCL001 Ocular Albinism 46
273 MLG014 Malignant Fibrous Histiocytoma of Bone 43
274 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
275 OST097 Osteoporotic Fracture 41
276 c ATS282 Autosomal Recessive Malignant Osteopetrosis 40
277 PDT021 Pediatric Osteosarcoma 40
278 c ALB024 Albinism, Ocular, Type I 38
279 PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 38
280 LYS017 Loeys-Dietz Syndrome 4 38
281 FBR002 Fibrosarcoma of Bone 36
282 CHN003 Chondroblastic Osteosarcoma 35
283 BNR001 Bone Remodeling Disease 30
284 LCL004 Localized Osteosarcoma 29
285 TLN002 Telangiectatic Osteogenic Sarcoma 21
286 STR088 Stratton-Parker Syndrome 20
287 CLC056 Cole-Carpenter Syndrome 1 20
288 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
289 PRM151 Primary Bone Lymphoma 19
290 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 18
291 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
292 BMR004 Beemer Lethal Malformation Syndrome 18
293 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
294 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
295 P MLT017 Multifocal Osteogenic Sarcoma 16
296 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
297 PGT006 Paget Disease of Bone 4 14
298 LPS001 Liposarcoma of Bone 12
299 INT073 Intracortical Osteogenic Sarcoma 11
300 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
301 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 11
302 OST156 Osteosclerosis with Ichthyosis and Fractures 10
303 SYN002 Synchronous Multifocal Osteogenic Sarcoma 10
304 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 10
305 BNN002 Bone Angioendothelial Sarcoma 10
306 DST098 Distal Osteosclerosis 9
307 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 9
308 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 8
309 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 8
310 CHL041 Childhood Intracortical Osteosarcoma 7
311 CHL001 Childhood Parosteal Osteogenic Sarcoma 6
312 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 6
313 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 6
314 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
315 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
316 MTC001 Metachronous Osteosarcoma of the Bone 5
317 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
318 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 5
319 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
320 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
321 DWR010 Dwarfism Thin Bones Multiple Fractures 3
322 BRT025 Brittle Bone Syndrome Lethal Type 3
323 CTR016 Cataract Skeletal Anomalies 3
324 HYD022 Hydrocephalus Skeletal Anomalies 3
325 OCL029 Oculo Skeletal Renal Syndrome 3
326 CRN080 Craniofacial and Skeletal Defects 2
327 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 2
328 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 2
329 c PST038 Positive Rheumatoid Factor Polyarthritis 2
330 CRP008 Carpo Tarsal Osteolysis Recessive 2
331 CTS007 Cutis Laxa Osteoporosis 2
332 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 2
333 P HRD001 Hereditary Multiple Exostoses 45
334 OST115 Osteonecrosis of the Jaw 42
335 CHN004 Chondroblastoma 42
336 END059 Endocrine-Cerebroosteodysplasia 32
337 OST006 Osteoblastoma 32
338 BND014 Bone Development Disease 30
339 CPL004 Caplan's Syndrome 30
340 OST160 Osteoid Osteoma 27
341 PTR001 Petrositis 25
342 BNS002 Bone Structure Disease 25
343 OST168 Osteosclerotic Metaphyseal Dysplasia 22
344 c OST169 Osteogenesis Imperfecta, Type Xviii 20
345 BNM013 Bone Marrow Failure Syndrome 3 19
346 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
347 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 17
348 SHR114 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 16
349 CHR633 Choroidal Osteoma, Bilateral 11
350 P CTS001 Cutis Laxa 62
351 P OSS001 Ossifying Fibroma 45
352 P CRB101 Cerebrooculofacioskeletal Syndrome 1 43
353 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
354 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 39
355 PTL009 Patella, Chondromalacia of 38
356 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
357 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
358 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
359 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
360 RHM013 Rheumatoid Nodulosis 34
361 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
362 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
363 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
364 BNS004 Bone Squamous Cell Carcinoma 31
365 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
366 c ACQ027 Acquired Cutis Laxa 29
367 ISC005 Ischemic Bone Disease 29
368 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
369 BND004 Bone Deterioration Disease 28
370 c CRB099 Cerebrooculofacioskeletal Syndrome 3 27
371 c CRB100 Cerebrooculofacioskeletal Syndrome 4 26
372 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
373 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 26
374 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
375 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
376 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
377 c CRB098 Cerebrooculofacioskeletal Syndrome 2 25
378 CRN272 Craniometadiaphyseal Dysplasia 23
379 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
380 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22
381 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
382 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 17
383 c JVN045 Juvenile Ossifying Fibroma 17
384 BNB001 Bone Benign Neoplasm 17
385 c EFM001 Efemp2-Related Cutis Laxa 14
386 c LTB003 Ltbp4-Related Cutis Laxa 14
387 BNC005 Bone Chondrosarcoma 10
388 SND010 Sinding-Larsen-Johansson Disease 9
389 c FBL003 Fbln5-Related Cutis Laxa 8
390 BNM012 Bone Ameloblastoma 6
391 BND005 Bone Dysplasia Azouz Type 4
392 P MSC003 Muscular Atrophy 54
393 P SYP003 Syphilis 51
394 TRN004 Trench Fever 43
395 FCL041 Focal Myositis 41
396 c PRG001 Progressive Muscular Atrophy 41
397 c SCN006 Secondary Syphilis 40
398 c CNG033 Congenital Syphilis 40
399 SLT001 Solitary Osseous Plasmacytoma 38
400 OST008 Osteosclerotic Myeloma 38
401 P ACR062 Acroosteolysis 34
402 GNT001 Giant Cell Reparative Granuloma 33
403 c PRM022 Primary Syphilis 31
404 RHM008 Rheumatic Myocarditis 31
405 c LTC001 Late Congenital Syphilis 25
406 c ERL002 Early Congenital Syphilis 24
407 ELS005 Elastoma 23
408 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
409 HYP754 Hypophosphatemic Bone Disease 20
410 MZB001 Mazabraud Syndrome 20
411 ACH002 Achilles Bursitis 19
412 KNN010 Kennerknecht Syndrome 19
413 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
414 HDZ001 Hadziselimovic Syndrome 18
415 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 18
416 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 18
417 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
418 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
419 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 18
420 IDP069 Idiopathic Avascular Necrosis 18
421 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 18
422 VLF001 Velofacioskeletal Syndrome 17
423 WDW001 Widow's Peak 17
424 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
425 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 15
426 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
427 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
428 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 14
429 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 14
430 CLB032 Coloboma of Macula and Skeletal Anomalies 14
431 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 14
432 c BLN020 Blount Disease, Infantile 14
433 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
434 MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 13
435 EPM003 Epimetaphyseal Skeletal Dysplasia 13
436 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 13
437 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 13
438 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
439 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
440 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
441 PHL009 Phalangeal Microgeodic Syndrome 12
442 BNM021 Bone Mineral Density Quantitative Trait Locus 7 12
443 ISL032 Isolated Bone Marrow Mastocytosis 12
444 THN012 Thanatophoric Dysplasia, Glasgow Variant 11
445 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 11
446 BLN021 Blount Disease, Adolescent 10
447 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 10
448 BNL001 Bone Leiomyosarcoma 10
449 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
450 NSL024 Nasal Bones, Absence of 10
451 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
452 OSS016 Ossified Ear Cartilages 9
453 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 9
454 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9
455 c CLC009 Clcn7-Related Osteopetrosis 9
456 OST161 Osteoma of Middle Ear 8
457 ANG057 Angioosteohypotrophic Syndrome 8
458 BNM014 Bone Mineral Density Quantitative Trait Locus 4 8
459 BNP003 Bone Pain, Periodic 7
460 PBC001 Pubic Bone Dysplasia 7
461 IDP078 Idiopathic Phalangeal Acro-Osteolysis 7
462 ORB004 Orbital Osteomyelitis 7
463 OST155 Osteomas of Mandible 7
464 EXP005 Expansile Bone Lesions 7
465 BNM017 Bone Mineral Density Quantitative Trait Locus 2 7
466 BNM019 Bone Mineral Density Quantitative Trait Locus 5 7
467 BNM020 Bone Mineral Density Quantitative Trait Locus 6 7
468 BNM023 Bone Mineral Density Quantitative Trait Locus 9 7
469 BNM024 Bone Mineral Density Quantitative Trait Locus 10 7
470 BNM025 Bone Mineral Density Quantitative Trait Locus 11 7
471 BNM027 Bone Mineral Density Quantitative Trait Locus 13 7
472 BNM028 Bone Mineral Density Quantitative Trait Locus 14 7
473 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
474 INV019 Inverse Klippel-Trénaunay Syndrome 6
475 c LRP007 Lrp5-Related Primary Osteoporosis 6
476 BNS005 Bone Size Quantitative Trait Locus 1 6
477 BNS006 Bone Size Quantitative Trait Locus 2 6
478 CNT014 Central Nervous System Osteosarcoma 6
479 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
480 OST166 Osteoma of Cranial Vault, Familial 5
481 PRM165 Primary Plasmacytoma of the Bone 5
482 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
483 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
484 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 4
485 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4
486 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
487 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 4
488 SST002 Sost-Related Sclerosing Bone Dysplasias 3
489 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
490 BND008 Bone Dysplasia Moore Type 3
491 INT326 Intellectual Disability-Skeletal Abnormalities-Joint Laxity-Cardiac Anomalies Syndrome 3
492 SKL008 Skeletal Dysplasia Orofacial Anomalies 2
493 P ART022 Arthritis 76
494 P HYD006 Hydrocephalus 69
495 P AMY004 Amyloidosis 68
496 P ART023 Arthropathy 67
497 P MCL013 Mucolipidosis Iv 67
498 P CRN037 Craniosynostosis 67
499 P CNG411 Congenital Disorder of Glycosylation, Type in 62
500 P EHL001 Ehlers-Danlos Syndrome 60
501 P SPN052 Spondyloarthropathy 60
502 P HST010 Histiocytosis 59
503 SPN027 Spinal Stenosis 59
504 GT001 Gout 57
505 P PLY006 Polydactyly 57
506 P ANG015 Angioedema 57
507 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 56
508 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 56
509 P SCL018 Scoliosis 55
510 ANK001 Ankylosis 55
511 SPN019 Spondylolisthesis 55
512 SPN051 Spondylitis 55
513 P SJG008 Sjogren Syndrome 54
514 P MLT007 Multiple Epiphyseal Dysplasia 53
515 DGN001 Degenerative Disc Disease 53
516 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
517 c INV001 Invasive Aspergillosis 52
518 HMR002 Hemarthrosis 51
519 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 51
520 P BRC006 Brachydactyly 50
521 c MLG054 Malignant Histiocytosis 50
522 c HYP292 Hypophosphatasia, Infantile 49
523 SYN005 Synostosis 49
524 c CNG216 Congenital Hydrocephalus 49
525 c ANG068 Angioedema, Hereditary, Type I 49
526 c HYP293 Hypophosphatasia, Adult 49
527 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
528 c HRD039 Hereditary Amyloidosis 48
529 c JVN003 Juvenile Xanthogranuloma 48
530 c TRC092 Trichorhinophalangeal Syndrome, Type I 47
531 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
532 P CHN059 Chondrocalcinosis 46
533 c EHL033 Ehlers-Danlos Syndrome, Classic Type 46
534 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
535 DYS018 Dysostosis 46
536 CLB002 Clubfoot 46
537 P RDL002 Radioulnar Synostosis 45
538 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
539 c PSD106 Pseudo-Torch Syndrome 1 45
540 c ACQ012 Acquired Angioedema 44
541 c RBN009 Robinow Syndrome, Autosomal Recessive 44
542 SHL001 Shoulder Impingement Syndrome 44
543 VLL003 Villonodular Synovitis 44
544 c MCP047 Mucopolysaccharidosis, Type Iva 44
545 P MNN018 Mannosidosis 43
546 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
547 HRT030 Hartsfield Syndrome 43
548 HYD003 Hydrarthrosis 43
549 BRS064 Bursitis 43
550 SPN036 Spinal Chordoma 42
551 SPN029 Spondylolysis 42
552 EPC002 Epicondylitis 42
553 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
554 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 41
555 c SCL042 Sclerosteosis 2 41
556 IDP070 Idiopathic Scoliosis 41
557 CHN053 Chondromyxoid Fibroma 41
558 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
559 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
560 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
561 c SPL034 Split-Hand/foot Malformation 4 40
562 PDT035 Pediatric Systemic Lupus Erythematosus 40
563 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
564 RHM035 Rheumatic Fever-Related Antigen 39
565 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
566 LTT002 Letterer-Siwe Disease 39
567 HYP007 Hypermobility Syndrome 39
568 c RBN018 Robinow Syndrome, Autosomal Dominant 1 39
569 P HRD086 Hereditary Hypophosphatemic Rickets 39
570 c DSB006 Desbuquois Dysplasia 1 39
571 c CRN278 Craniosynostosis 1 39
572 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
573 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
574 ESN017 Eosinophilic Granuloma 38
575 HYP041 Hypochondrogenesis 38
576 P ATL001 Atelosteogenesis 38
577 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 38
578 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
579 c PRM294 Primary Sjögren Syndrome 37
580 P NNT042 Neonatal Lupus Erythematosus 37
581 P PRT042 Parietal Foramina 37
582 c ATL011 Atelosteogenesis, Type I 36
583 c SPL070 Split-Hand/foot Malformation 2 36
584 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
585 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
586 MND025 Mandibulofacial Dysostosis with Alopecia 36
587 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 36
588 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
589 c MCP051 Mucopolysaccharidosis, Type Ix 36
590 OLC001 Olecranon Bursitis 35
591 c TYP024 Type Ii Mixed Cryoglobulinemia 35
592 c ATS076 Autosomal Recessive Stickler Syndrome 35
593 CHN011 Chondromalacia 35
594 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
595 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
596 c SPL033 Split-Hand/foot Malformation 6 35
597 ASK001 Askin's Tumor 35
598 P GLP001 Geleophysic Dysplasia 34
599 c MCL016 Mucolipidosis Iii Gamma 34
600 TRM011 Terminal Osseous Dysplasia 34
601 INF159 Infantile Sialic Acid Storage Disease 34
602 c CNG379 Congenital Disorder of Glycosylation, Type It 34
603 NNT039 Neonatal Marfan Syndrome 34
604 SPN331 Spondyloocular Syndrome 33
605 c ATL015 Atelosteogenesis, Type Ii 33
606 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 33
607 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 33
608 CLV002 Clivus Chordoma 33
609 c GLP003 Geleophysic Dysplasia 1 33
610 MST019 Mastoiditis 33
611 BRC004 Brachydactyly-Syndactyly Syndrome 33
612 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
613 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
614 CHN009 Chondroid Chordoma 32
615 c SPL025 Split-Hand/foot Malformation 5 32
616 P OMD003 Omodysplasia 32
617 ISL062 Isolated Plagiocephaly 32
618 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 31
619 c GLP004 Geleophysic Dysplasia 2 31
620 IDP041 Idiopathic Recurrent Pericarditis 31
621 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
622 P ACR093 Acrofrontofacionasal Dysostosis 31
623 PLM007 Pulmonary Aspergilloma 31
624 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
625 c OMD001 Omodysplasia 1 30
626 ALG027 Al-Gazali-Bakalinova Syndrome 30
627 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
628 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
629 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
630 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
631 TBR007 Tuberculum Sellae Meningioma 30
632 CRN264 Craniosynostosis with Fibular Aplasia 30
633 c CHN022 Chondrocalcinosis 2 30
634 WLD005 Wild Type Attr Amyloidosis 30
635 c CNG188 Congenital Disorder of Glycosylation, Type if 30
636 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
637 P BRC003 Brachyolmia 29
638 PTL002 Patellofemoral Pain Syndrome 29
639 ISL121 Isolated Split Hand-Split Foot Malformation 29
640 c ATL012 Atelosteogenesis, Type Iii 29
641 c SCL045 Sclerosteosis 1 29
642 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 29
643 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
644 BNG069 Benign Cephalic Histiocytosis 29
645 ACR095 Acrofacial Dysostosis, Cincinnati Type 29
646 c RBN008 Rubinstein-Taybi Syndrome 2 29
647 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
648 DRG013 Drug-Induced Lupus Erythematosus 28
649 HLS001 Heel Spur 28
650 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
651 DSC004 Discitis 28
652 KMM001 Kummell's Disease 28
653 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
654 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
655 HYP674 Hyperostosis Cranialis Interna 28
656 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
657 P DSB002 Desbuquois Dysplasia 28
658 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
659 c CRN277 Craniosynostosis 2 28
660 IGG014 Igg4-Related Sclerosing Cholangitis 28
661 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
662 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 28
663 HYP679 Hypoglossia-Hypodactylia 28
664 c SYN084 Synpolydactyly 1 28
665 ISL096 Isolated Klippel-Feil Syndrome 28
666 SKL005 Skull Base Meningioma 27
667 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
668 c PSD107 Pseudo-Torch Syndrome 2 27
669 c ACR106 Acrocephalopolysyndactyly Type Iii 27
670 CNS013 Constricting Bands, Congenital 27
671 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
672 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
673 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
674 c RBN020 Robinow Syndrome, Autosomal Dominant 3 27
675 STL007 Steel Syndrome 26
676 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
677 c JVN047 Juvenile Spondyloarthropathy 26
678 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
679 c TRN014 Transient Arthritis 26
680 PRR001 Periarthritis 26
681 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
682 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
683 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
684 c BRC062 Brachydactyly, Type D 26
685 ISL061 Isolated Brachycephaly 26
686 SPH007 Sphenoid Sinusitis 26
687 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
688 ISL089 Isolated Scaphocephaly 26
689 WLD006 Wild Type Abeta2m Amyloidosis 25
690 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
691 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
692 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
693 c ANG045 Angioedema, Hereditary, Type Iii 25
694 c CRN217 Craniosynostosis 3 25
695 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
696 ORB011 Orbit Rhabdomyosarcoma 25
697 DGT002 Digital Clubbing, Isolated Congenital 25
698 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
699 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 25
700 P ADL037 Adult Xanthogranuloma 25
701 P NNT006 Neonatal Myasthenia Gravis 25
702 ANG049 Angioedema Induced by Ace Inhibitors 25
703 c PRT059 Parietal Foramina 1 25
704 LBN004 Liebenberg Syndrome 25
705 P FRN033 Frontonasal Dysplasia 2 25
706 c DSB005 Desbuquois Dysplasia 2 25
707 ANG062 Angioosteohypertrophic Syndrome 25
708 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
709 c CRN281 Craniosynostosis 7 25
710 SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25
711 c PRT060 Parietal Foramina 2 25
712 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
713 ACR017 Acrofacial Dysostosis 24
714 CVR001 Cavernous Sinus Meningioma 24
715 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
716 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 24
717 c OMD002 Omodysplasia 2 24
718 c ACR103 Acrofrontofacionasal Dysostosis 1 24
719 PTR002 Petroclival Meningioma 24
720 CRN266 Craniofacial Dyssynostosis with Short Stature 24
721 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
722 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
723 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
724 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
725 MRF019 Marfan Lipodystrophy Syndrome 23
726 LMB003 Lumbosacral Lipoma 23
727 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
728 PTL010 Patella Aplasia-Hypoplasia 23
729 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
730 HGH021 Hughes-Stovin Syndrome 23
731 P FRM004 Foramen Magnum Meningioma 23
732 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
733 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 23
734 GNR023 Generalized Eruptive Histiocytosis 23
735 P TRC031 Trichorhinophalangeal Syndrome 23
736 TRG019 Trigonocephaly with Short Stature and Developmental Delay 23
737 c BRC060 Brachydactyly, Type E2 23
738 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
739 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
740 PRG077 Progressive Nodular Histiocytosis 22
741 ACR101 Acrocraniofacial Dysostosis 22
742 ULN023 Ulnar Hypoplasia 22
743 c CRN216 Craniosynostosis 5 22
744 c BRC108 Brachydactyly, Type A3 22
745 c BRC052 Brachydactyly, Type B2 22
746 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
747 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
748 FBR091 Fibroblastic Rheumatism 22
749 MLR023 Melorheostosis, Isolated 22
750 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
751 c FNG009 Feingold Syndrome 2 22
752 c ACR105 Acrofrontofacionasal Dysostosis 2 22
753 c BRC080 Brachydactyly, Type A1, B 22
754 P ACR108 Acrocephalopolysyndactyly Type Iv 22
755 P ACR020 Acropectorovertebral Dysplasia 22
756 c CNG514 Congenital Radioulnar Synostosis 22
757 c FRN032 Frontonasal Dysplasia 3 22
758 INF009 Inflammatory Spondylopathy 22
759 c EPP012 Epiphyseal Dysplasia, Multiple, 2 21
760 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 21
761 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
762 PLC002 Plica Syndrome 21
763 MSL005 Mseleni Joint Disease 21
764 TBL006 Tibial Adamantinoma 21
765 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
766 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
767 ISL087 Isolated Oxycephaly 21
768 MNS012 Monostotic Fibrous Dysplasia 21
769 c BRC075 Brachydactyly, Type A1, C 21
770 c EPP015 Epiphyseal Dysplasia, Multiple, 3 21
771 c BRC105 Brachydactyly, Type A1, D 21
772 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 21
773 c CRN256 Craniosynostosis 6 21
774 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 21
775 CRN200 Craniosynostosis and Dental Anomalies 21
776 c EHL065 Ehlers-Danlos Syndrome, Type V 21
777 DYS134 Dysspondyloenchondromatosis 21
778 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
779 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
780 PLV015 Pelvis-Shoulder Dysplasia 21
781 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
782 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
783 SGL002 Sagliker Syndrome 20
784 ISL084 Isolated Trigonocephaly 20
785 P TRC034 Torch Syndrome 20
786 EPP011 Epiphyseal Chondrodysplasia, Miura Type 20
787 c BRC053 Brachyolmia Type 2 20
788 c SYN088 Synpolydactyly 2 20
789 c STC012 Stickler Syndrome, Type Iv 20
790 P OVR096 Overlap Myositis 20
791 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
792 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
793 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 20
794 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
795 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
796 EPP010 Epiphysiolysis of the Hip 20
797 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
798 INT182 Intermittent Hydrarthrosis 20
799 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 20
800 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
801 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 19
802 RDL022 Radial Hemimelia 19
803 c PRM150 Primary Localized Amyloidosis 19
804 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
805 IND009 Indeterminate Cell Histiocytosis 19
806 MSM018 Mesomelic Limb Shortening and Bowing 19
807 c STC011 Stickler Syndrome, Type V 19
808 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
809 c BRC035 Brachydactyly Type A5 19
810 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
811 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
812 CRN224 Craniofaciofrontodigital Syndrome 19
813 INF118 Inflammatory Myopathy with Abundant Macrophages 18
814 HST018 Histiocytosis, Progressive Mucinous 18
815 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
816 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
817 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
818 PPL038 Papular Xanthoma 18
819 c SYS066 Systemic Polyarteritis Nodosa 18
820 c HYD042 Hydrocephalus, Autosomal Dominant 18
821 SPC002 Specific Bursitis Often of Occupational Origin 18
822 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
823 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
824 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
825 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
826 c TRN062 Transient Neonatal Myasthenia Gravis 17
827 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 17
828 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
829 IGG013 Igg4-Related Pachymeningitis 17
830 c EHL090 Ehlers-Danlos Syndrome Type 7b 17
831 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
832 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
833 MMM002 Mammary-Digital-Nail Syndrome 17
834 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
835 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
836 P ACT061 Acute Sphenoidal Sinusitis 16
837 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 16
838 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
839 c EPP026 Epiphyseal Dysplasia, Multiple, 7 16
840 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
841 IGG008 Igg4-Related Mesenteritis 16
842 c STC007 Stickler Syndrome, Type 3 16
843 CTN031 Cutaneous Pseudolymphoma 16
844 RDL031 Radial Aplasia, X-Linked 16
845 c NNT025 Neonatal Systemic Lupus Erythematosus 16
846 c GLP007 Geleophysic Dysplasia 3 16
847 P ZYG003 Zygodactyly 1 16
848 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
849 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
850 AML053 Amelia, Autosomal Recessive 16
851 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
852 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 15
853 c PRT113 Parietal Foramina 3 15
854 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
855 c CHN021 Chondrocalcinosis 1 15
856 c AHM002 Ah Amyloidosis 15
857 CNS012 Cono-Spondylar Dysplasia 15
858 c RBN010 Robinow-Like Syndrome 15
859 WHB001 Wahab Syndrome 15
860 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
861 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
862 c CNT108 Central Polydactyly 15
863 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
864 FMR013 Femoral Agenesis/hypoplasia 15
865 IGG011 Igg4-Related Kidney Disease 15
866 HYP497 Hyperphalangy 15
867 c CHR039 Chronic Sphenoidal Sinusitis 15
868 IGG009 Igg4-Related Ophthalmic Disease 15
869 c TYP003 Type I Ehlers-Danlos Syndrome 15
870 LRS009 Larsen-Like Syndrome, Lethal Type 14
871 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
872 CNG284 Congenital Pseudoarthrosis of the Tibia 14
873 c SPN226 Spondyloarthropathy 2 14
874 c SPN121 Spondylocostal Dysostosis 1 14
875 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
876 LGB002 Leg, Absence Deformity of, with Congenital Cataract 14
877 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
878 c SYN040 Synpolydactyly 3 14
879 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
880 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
881 VRN007 Variant Abeta2m Amyloidosis 14
882 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 14
883 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
884 DPH002 Diaphragma Sellae Meningioma 13
885 CLV003 Clivus Meningioma 13
886 BCP001 Bicipital Tenosynovitis 13
887 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 13
888 ACH028 Acheiria 13
889 CRN204 Craniofacial Conodysplasia 13
890 TRM018 Traumatic Avascular Necrosis 13
891 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
892 HND012 Handigodu Joint Disease 13
893 SPH003 Sphenoorbital Meningioma 12
894 c MXD037 Mixed Cryoglobulinemia Type Iii 12
895 RNN006 Reunion Island Larsen Syndrome 12
896 APV001 Aapoaiv Amyloidosis 12
897 SYM014 Symbrachydactyly of Hands and Feet 12
898 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 12
899 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
900 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 12
901 IGG015 Igg4-Related Thyroid Disease 12
902 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
903 c INF052 Infantile Scoliosis 12
904 IDP040 Idiopathic Eosinophilic Myositis 12
905 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
906 c ACQ036 Acquired Angioedema Type 2 11
907 c SYN050 Syndactyly Type 6 11
908 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 11
909 INT058 Intraorbital Meningioma 11
910 PRM233 Primary Cutaneous Plasmacytosis 11
911 ORB001 Orbit Alveolar Rhabdomyosarcoma 11
912 BST002 Baastrup's Syndrome 11
913 c PRM222 Primary Polyarteritis Nodosa 11
914 CLV001 Clivus Chondroid Chordoma 11
915 c ACR046 Acropectorovertebral Dysplasia F Form 11
916 c BRC037 Brachydactyly Type A7 10
917 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
918 GLS016 Glossopalatine Ankylosis 10
919 c SPN122 Spondylocostal Dysostosis 2 10
920 HMR042 Humero-Ulnar Synostosis 10
921 FBR007 Fibroosseous Pseudotumor of Digits 10
922 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
923 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
924 c SPN123 Spondylocostal Dysostosis 3 10
925 c SPN124 Spondylocostal Dysostosis 4 10
926 c ZYG007 Zygodactyly Type 3 10
927 ULN014 Ulnar Hemimelia 9
928 CNG277 Congenital Pseudoarthrosis of the Fibula 9
929 c ANT021 Anterior Foramen Magnum Meningioma 9
930 PTT005 Pituitary Stalk Meningioma 9
931 c SPN256 Spondyloarthropathy 3 9
932 CRN261 Craniosynostosis-Cataract Syndrome 9
933 ISC011 Ischio-Vertebral Syndrome 9
934 CNG279 Congenital Pseudoarthrosis of the Ulna 9
935 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
936 BHC001 Behcet's Syndrome Arthropathy 9
937 ALC030 Alect2 Amyloidosis 9
938 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
939 c ZYG006 Zygodactyly Type 2 9
940 SCR036 Sacrum Chordoma 8
941 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
942 IGG010 Igg4-Related Aortitis 8
943 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
944 PRN048 Prenatal Benign Hypophosphatasia 8
945 AML037 Amelia of Upper Limb 8
946 CNG283 Congenital Pseudoarthrosis of the Femur 8
947 CNG278 Congenital Pseudoarthrosis of the Radius 8
948 TBF001 Tibio-Fibular Synostosis 8
949 c TRN008 Transient Arthropathy 8
950 APD003 Apodia 8
951 c PST023 Posterior Foramen Magnum Meningioma 8
952 UPP001 Upper Clivus Meningioma 8
953 LWR003 Lower Clivus Meningioma 8
954 c SCN055 Secondary Polyarteritis Nodosa 8
955 CLC050 Calciphylaxis Cutis 8
956 OKH001 Okihiro Syndrome Due to a Point Mutation 8
957 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
958 c ZYG005 Zygodactyly Type 4 8
959 BPR001 Bipartite Talus 8
960 c ACQ035 Acquired Angioedema Type 1 7
961 P JVN036 Juvenile Sialidosis Type 2 7
962 c CNG348 Congenital Sialidosis Type 2 7
963 c JVN030 Juvenile Overlap Myositis 7
964 RDL019 Radio-Ulnar Synostosis, Unilateral 7
965 c RR2001 Ror2-Related Robinow Syndrome 7
966 SNG013 Single-Organ Polyarteritis Nodosa 7
967 c SX2003 Six2-Related Frontonasal Dysplasia 7
968 HMR031 Humeral Agenesis/hypoplasia 7
969 HYP500 Hyperphalangy, Unilateral 7
970 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
971 NNT045 Neonatal Autoimmune Hemolytic Anemia 7
972 c ALP056 Alpha-Mannosidosis, Adult Form 7
973 c ALP055 Alpha-Mannosidosis, Infantile Form 7
974 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
975 CNG289 Congenital Absence/hypoplasia of Thumb 6
976 CNG287 Congenital Absence of Both Forearm and Hand 6
977 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
978 HYP501 Hyperphalangy, Bilateral 6
979 RDL020 Radio-Ulnar Synostosis, Bilateral 6
980 HYP010 Hypermobility of Coccyx 6
981 MLT004 Multiple Skull Base Meningioma 6
982 SPH002 Sphenocavernous Meningioma 6
983 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
984 CNG290 Congenital Absence of Both Lower Leg and Foot 6
985 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
986 SMP006 Simple Cryoglobulinemia 6
987 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
988 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
989 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
990 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
991 ISL026 Isolated Sternocostoclavicular Hyperostosis 6
992 RGR003 Regressive Spondylometaphyseal Dysplasia 6
993 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
994 HMR036 Humero-Ulnar Synostosis, Unilateral 6
995 HMR037 Humero-Ulnar Synostosis, Bilateral 6
996 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
997 ACR100 Acrofacial Dysostosis, Patagonia Type 6
998 P RBN007 Rubinstein Taybi Like Syndrome 5
999 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1000 PHL011 Phalanx Chondroma 5
1001 GNC002 Gonococcal Bursitis 5
1002 c HYD017 Hydrocephalus Autosomal Recessive 5
1003 VSC036 Visceral Calciphylaxis 5
1004 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1005 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1006 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1007 MDL018 Madelung Deformity, Unilateral 5
1008 MDL017 Madelung Deformity, Bilateral 5
1009 CHR512 Cheirospondyloenchondromatosis 5
1010 AML036 Amelia of Lower Limb 5
1011 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1012 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1013 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1014 TNS002 Tenosynovitis of Foot and Ankle 5
1015 c CRN093 Craniosynostosis Autosomal Dominant 5
1016 GNC006 Gonococcal Spondylitis 5
1017 PRG089 Progeria-Associated Arthropathy 4
1018 SCN050 Secondary Non-Traumatic Avascular Necrosis 4
1019 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1020 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1021 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
1022 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
1023 MDF001 Midface Dysplasia 3
1024 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 3
1025 PGT008 Paget Disease of Bone 5, Juvenile-Onset 45
1026 GRN013 Greenberg Dysplasia 34
1027 CRD221 Cardiospondylocarpofacial Syndrome 39
1028 BKS003 Beukes Hip Dysplasia 30
1029 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
1030 THM023 Thiemann Disease 20
1031 MCC012 Mccune-Albright Syndrome 64
1032 ANT003 Antley-Bixler Syndrome 50
1033 LYS021 Loeys-Dietz Syndrome 3 38
1034 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 33
1035 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 22
1036 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 19
1037 PFF001 Pfeiffer Syndrome 73
1038 P MYL005 Myelofibrosis 70
1039 c HRD010 Hereditary Spastic Paraplegia 67
1040 P THN009 Thanatophoric Dysplasia, Type I 67
1041 P CMR001 Camurati-Engelmann Disease 61
1042 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
1043 FLT011 Felty Syndrome 51
1044 P THR117 Three M Syndrome 1 51
1045 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1046 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
1047 P PRM018 Primary Hypertrophic Osteoarthropathy 45
1048 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
1049 CHN054 Chondrodysplasia, Blomstrand Type 44
1050 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
1051 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
1052 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
1053 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
1054 P BLN001 Blount's Disease 39
1055 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
1056 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
1057 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
1058 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1059 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
1060 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
1061 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
1062 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
1063 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
1064 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
1065 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1066 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
1067 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
1068 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
1069 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
1070 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1071 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
1072 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
1073 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
1074 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
1075 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
1076 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
1077 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
1078 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
1079 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
1080 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
1081 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
1082 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
1083 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
1084 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
1085 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
1086 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
1087 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1088 c SPS031 Spastic Paraplegia 23 31
1089 P SPS012 Spastic Paraplegia 3a 30
1090 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
1091 c EPP017 Epiphyseal Dysplasia, Multiple, 1 30
1092 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1093 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1094 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28
1095 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1096 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
1097 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1098 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1099 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
1100 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
1101 c HRD186 Hereditary Spastic Paraplegia 51 27
1102 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
1103 c SPS021 Spastic Paraplegia 10 26
1104 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1105 c SPS092 Spastic Paraplegia 11 26
1106 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
1107 c EPP014 Epiphyseal Dysplasia, Multiple, 4 26
1108 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
1109 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
1110 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
1111 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
1112 c EPP013 Epiphyseal Dysplasia, Multiple, 5 25
1113 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
1114 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
1115 c SPS039 Spastic Paraplegia 5a 25
1116 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
1117 c THR096 Three M Syndrome 3 24
1118 c SPS036 Spastic Paraplegia 3 23
1119 c SPS025 Spastic Paraplegia 15 23
1120 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
1121 c THR069 Three M Syndrome 2 23
1122 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
1123 c SPS091 Spastic Paraplegia 4 21
1124 c SPS013 Spastic Paraplegia 8 20
1125 c SPS020 Spastic Paraplegia 1 20
1126 c HRD188 Hereditary Spastic Paraplegia 72 19
1127 c SPS037 Spastic Paraplegia 31 19
1128 c SPS034 Spastic Paraplegia 26 18
1129 c SPS027 Spastic Paraplegia 17 18
1130 c SPS028 Spastic Paraplegia 18 17
1131 c SPS041 Spastic Paraplegia 6 17
1132 c SPS023 Spastic Paraplegia 13 17
1133 c SPS080 Spastic Paraplegia 51 16
1134 c SPS032 Spastic Paraplegia 24 15
1135 c SPS033 Spastic Paraplegia 25 15
1136 c SPS035 Spastic Paraplegia 29 15
1137 c SPS022 Spastic Paraplegia 12 15
1138 c SPS026 Spastic Paraplegia 16 14
1139 c SPS161 Spastic Paraplegia 32 14
1140 c SPS038 Spastic Paraplegia 39 14
1141 c SPS029 Spastic Paraplegia 19 14
1142 OST141 Osteoclastic Giant Cell Tumor of Pancreas 13
1143 c SPS024 Spastic Paraplegia 14 12
1144 c SPS040 Spastic Paraplegia 5b 11
1145 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
1146 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
1147 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
1148 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
1149 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
1150 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
1151 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
1152 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
1153 c FML078 Familial Myelofibrosis 7
1154 NLP001 Nail-Patella Syndrome 55
1155 PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 22
1156 QZM001 Qazi Markouizos Syndrome 13
1157 PSD014 Pseudopseudohypoparathyroidism 55
1158 SCH068 Schwartz-Jampel Syndrome, Type 1 52
1159 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 31
1160 NST002 Nestor-Guillermo Progeria Syndrome 25
1161 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1162 WVR001 Weaver Syndrome 61
1163 FLT006 Floating-Harbor Syndrome 44
1164 FRN039 Frank-Ter Haar Syndrome 38
1165 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 35
1166 STY001 Satoyoshi Syndrome 31
1167 OST150 Osteodysplasia, Familial, Anderson Type 17
1168 FRB005 Freiberg's Disease 14
1169 c SPN225 Spondyloarthropathy 1 71
1170 KLP010 Klippel-Trenaunay-Weber Syndrome 60
1171 CFF002 Coffin-Lowry Syndrome 57
1172 SPH001 Sapho Syndrome 51
1173 KYP002 Kyphomelic Dysplasia 27
1174 c MCP050 Mucopolysaccharidosis, Type Ii 63
1175 c MCP049 Mucopolysaccharidosis, Type Vii 63
1176 c MCP024 Mucopolysaccharidosis Type Vi 62
1177 c MCP001 Mucopolysaccharidosis Iii 60
1178 c MCP004 Mucopolysaccharidosis Iv 59
1179 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 52
1180 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1181 P MCP040 Mucopolysaccharidosis-Plus Syndrome 50
1182 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1183 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 37
1184 c MCP045 Mucopolysaccharidosis, Type Iiic 34
1185 RHM009 Rheumatoid Lung Disease 34
1186 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 34
1187 c MCP046 Mucopolysaccharidosis, Type Iiid 31
1188 c MCP048 Mucopolysaccharidosis, Type Ivb 30
1189 c BRC047 Bruck Syndrome 1 28
1190 RHY001 Rhyns Syndrome 27
1191 GRR002 Gurrieri Syndrome 25
1192 BRC095 Brachydactyly, Mononen Type 18
1193 BMR003 Beemer Ertbruggen Syndrome 10
1194 RVS001 Revesz Syndrome 40
1195 ACR002 Acrocapitofemoral Dysplasia 26
1196 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 20
1197 BNP001 Bone Peripheral Neuroepithelioma 15
1198 PNT007 Penttinen-Aula Syndrome 9
1199 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
1200 SRC014 Sarcoma 68
1201 RBR001 Roberts Syndrome 55
1202 SPN041 Spinal Cord Disease 51
1203 c THN010 Thanatophoric Dysplasia, Type Ii 50
1204 P PLG001 Pelger-Huet Anomaly 47
1205 SYN031 Synovial Chondromatosis 47
1206 P SNG014 Singleton-Merten Syndrome 31
1207 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 30
1208 c ACR044 Acroosteolysis Dominant Type 29
1209 c SNG011 Singleton-Merten Syndrome 1 27
1210 SCR025 Scarf Syndrome 24
1211 c BRC048 Bruck Syndrome 2 22
1212 GRN016 Grant Syndrome 20
1213 c SNG012 Singleton-Merten Syndrome 2 18
1214 VNB004 Van Buchem Disease, Type 2 17
1215 c PSD024 Pseudo Pelger-Huet Anomaly 10
1216 BTT012 Battaglia-Neri Syndrome 8
1217 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
1218 RHM014 Rheumatoid Vasculitis 41
1219 12Q002 12q14 Microdeletion Syndrome 30
1220 DNT045 Dental Anomalies and Short Stature 30
1221 BNM005 Bone Marrow Necrosis 26
1222 ELS006 Elsahy-Waters Syndrome 26
1223 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
1224 c CMR006 Camurati-Engelmann Disease, Type 2 21
1225 SHR023 Short Stature Syndrome, Brussels Type 19
1226 2Q3001 2q37 Deletion Syndrome 15
1227 VND003 Van Den Bosch Syndrome 14
1228 MGC006 Magic Syndrome 13
1229 HNT009 Hunter-Mcalpine Syndrome 13
1230 PTT018 Petit-Fryns Syndrome 11
1231 VRL015 Verloes Van Maldergem Marneffe Syndrome 10
1232 MCH009 Michels Caskey Syndrome 8
1233 RZN001 Rozin Hertz Goodman Syndrome 7
1234 HKF001 Ho Kaufman Mcalister Syndrome 7
1235 CNT060 Central Serous Chorioretinopathy 44
1236 IMM073 Immunoglobulin a Vasculitis 32
1237 3MC001 3mc Syndrome 2 30
1238 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1239 c ATP003 Atp6v0a2-Related Cutis Laxa 21
1240 P CLL020 Collagenopathy Type 2 Alpha 1 19
1241 FXL001 Foix-Alajouanine Syndrome 19
1242 c SPS042 Spastic Paraplegia 9 19
1243 ULN007 Ulna Metaphyseal Dysplasia Syndrome 17
1244 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 16
1245 BNK001 Banki Syndrome 14
1246 PRM291 Premature Aging Syndrome, Okamoto Type 14
1247 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 13
1248 VNB002 Van Bogaert-Hozay Syndrome 13
1249 DGH001 Doughnut Lesions of Skull, Familial 13
1250 ANP010 Anaplastic Plasmacytoma 11
1251 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1252 FYP001 Faye-Petersen-Ward-Carey Syndrome 10
1253 MGR005 Megarbane Syndrome 9
1254 PNS013 Panostotic Fibrous Dysplasia 8
1255 c CLL016 Collagenopathy, Types Ii and Xi 8
1256 SKL009 Skeletal Dysplasia, San Diego Type 8
1257 SKL024 Skeletal-Extraskeletal Angiomatosis 7
1258 CTK001 Cote Katsantoni Syndrome 7
1259 TRC050 Tricho-Dento-Osseous Syndrome 1 6
1260 RCH003 Richieri Costa Da Silva Syndrome 6
1261 CRT006 Cartilage Cancer 6
1262 KZL005 Kozlowski Warren Fisher Syndrome 5
1263 PNT008 Pointer Syndrome 5
1264 THD001 Theodor Hertz Goodman Syndrome 5
1265 ALS004 Alsing Syndrome 5
1266 VGN025 Vagneur Triolle Ripert Syndrome 4
1267 SLV009 Slavotinek Pike Mills Hurst Syndrome 4
1268 SND004 Sandhaus Ben-Ami Syndrome 4
1269 CHT003 Chitty Hall Webb Syndrome 4
1270 RGN002 Reginato Shiapachasse Syndrome 3
1271 LCK002 Lockwood Feingold Syndrome 3
1272 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
1273 CRT026 Cartilaginous Cancer 3
1274 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1275 c SYS001 Systemic Lupus Erythematosus 86
1276 P FNC027 Fanconi Anemia, Complementation Group a 78
1277 MRF001 Marfan Syndrome 74
1278 CRZ001 Crouzon Syndrome 70
1279 P CHR012 Chronic Granulomatous Disease 69
1280 P LPS004 Lupus Erythematosus 68
1281 APR006 Apert Syndrome 68
1282 SCH036 Scheie Syndrome 68
1283 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1284 BHC003 Behcet Syndrome 67
1285 P PRT008 Proteus Syndrome 66
1286 TKY002 Takayasu Arteritis 66
1287 P ASP006 Aspergillosis 65
1288 P CRN015 Cornelia De Lange Syndrome 64
1289 ADL030 Adult-Onset Still's Disease 64
1290 P PNC044 Pancreatitis 64
1291 INC002 Inclusion Body Myositis 63
1292 c MCL062 Mucolipidosis Ii Alpha/beta 63
1293 FBR011 Fibrodysplasia Ossificans Progressiva 63
1294 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1295 P CLD001 Cleidocranial Dysplasia 62
1296 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1297 P TRC072 Treacher Collins Syndrome 1 61
1298 c ACT027 Acute Pancreatitis 60
1299 ELL001 Ellis-Van Creveld Syndrome 60
1300 SPT004 Septic Arthritis 60
1301 P FCS002 Fucosidosis 60
1302 c PNC108 Pancreatitis, Hereditary 59
1303 MNK003 Muenke Syndrome 59
1304 ERD001 Erdheim-Chester Disease 58
1305 SPN008 Spondyloepiphyseal Dysplasia Congenita 58
1306 HMF006 Hemifacial Microsomia 58
1307 P HYP035 Hypophosphatasia 58
1308 P HLL001 Hallermann-Streiff Syndrome 58
1309 ANT009 Antithrombin Iii Deficiency 57
1310 MCR088 Microscopic Polyangiitis 57
1311 P OCL013 Oculodentodigital Dysplasia 57
1312 c GNG001 Gangliosidosis Gm1 57
1313 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1314 HYP042 Hypochondroplasia 57
1315 P PLY041 Polymyositis 56
1316 c MNN047 Mannosidosis, Alpha B, Lysosomal 56
1317 P STC001 Stickler Syndrome 56
1318 P STS008 Sotos Syndrome 1 56
1319 HRL003 Hurler Syndrome 56
1320 ASP002 Aspartylglucosaminuria 56
1321 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1322 CHR619 Chromosome 2q35 Duplication Syndrome 55
1323 RLP001 Relapsing Polychondritis 54
1324 MVL001 Mevalonic Aciduria 54
1325 P SCK004 Seckel Syndrome 54
1326 c CRP023 Carpenter Syndrome 1 54
1327 SCH002 Schnitzler Syndrome 54
1328 ERY017 Erythema Elevatum Diutinum 54
1329 P CRN108 Cranioectodermal Dysplasia 1 53
1330 MLT135 Multiple Sulfatase Deficiency 53
1331 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
1332 c AMY009 Amyloidosis Aa 53
1333 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 53
1334 c ACH041 Achondrogenesis, Type Ii 53
1335 GLC012 Galactosialidosis 53
1336 CLC001 Calciphylaxis 52
1337 GRG001 Greig Cephalopolysyndactyly Syndrome 52
1338 ESN015 Eosinophilic Fasciitis 52
1339 CGN006 Cogan Syndrome 52
1340 VTM027 Vitamin D-Dependent Rickets, Type 2a 51
1341 SPN020 Spondylosis 51
1342 P ADM011 Adams-Oliver Syndrome 51
1343 P PLY017 Polyarteritis Nodosa 51
1344 PYC001 Pycnodysostosis 50
1345 PSD012 Pseudoachondroplasia 50
1346 BLL001 Baller-Gerold Syndrome 50
1347 CFF003 Caffey Disease 50
1348 MLT145 Multiple Enchondromatosis, Maffucci Type 50
1349 P PRX021 Proximal Symphalangism 50
1350 ULN003 Ulnar-Mammary Syndrome 50
1351 PYL017 Pyle Disease 50
1352 c MCL046 Mucolipidosis Iii Alpha/beta 49
1353 CTY001 Cat Eye Syndrome 49
1354 P FBR025 Fibrochondrogenesis 49
1355 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1356 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
1357 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 49
1358 P WLL002 Weill-Marchesani Syndrome 49
1359 HYP088 Hyper-Igd Syndrome 49
1360 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1361 YNS002 Yunis-Varon Syndrome 48
1362 JCK001 Jackson-Weiss Syndrome 48
1363 HYP085 Hypothalamic Disease 48
1364 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1365 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1366 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
1367 CNN011 Cenani-Lenz Syndactyly Syndrome 48
1368 c ORF037 Orofaciodigital Syndrome I 48
1369 P ORF001 Orofaciodigital Syndrome 48
1370 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 47
1371 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 47
1372 P CRN013 Craniodiaphyseal Dysplasia 47
1373 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1374 c CRN139 Cornelia De Lange Syndrome 1 47
1375 c BRC078 Brachydactyly, Type A1 47
1376 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 47
1377 MLR003 Melorheostosis 46
1378 PST049 Postaxial Acrofacial Dysostosis 46
1379 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1380 NRM019 Neuraminidase Deficiency 46
1381 P LRS001 Larsen Syndrome 46
1382 CRN005 Craniofrontonasal Syndrome 46
1383 P SCL048 Sclerosteosis 46
1384 ANT039 Antisynthetase Syndrome 46
1385 c ATS082 Autosomal Dominant Robinow Syndrome 45
1386 P MLT072 Multiple Synostoses Syndrome 45
1387 c SPL024 Split-Hand/foot Malformation 3 45
1388 c ACH042 Achondrogenesis, Type Ib 45
1389 SHR098 Short-Rib Thoracic Dysplasia 12 45
1390 P CPL003 Capillary Leak Syndrome 45
1391 PYM001 Pyomyositis 45
1392 ACR013 Acrodysostosis 45
1393 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 45
1394 P CHN044 Chondrodysplasia Punctata Syndrome 44
1395 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44
1396 c BRC079 Brachydactyly, Type A2 44
1397 c CHL140 Chilblain Lupus 1 44
1398 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
1399 MCR225 Macrophage Activation Syndrome 44
1400 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44
1401 P FRN012 Frontometaphyseal Dysplasia 44
1402 c ACH033 Achondrogenesis, Type Ia 44
1403 P ACH011 Achondrogenesis 44
1404 P PRV002 Periventricular Nodular Heterotopia 43
1405 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 43
1406 c RCR022 Recurrent Acute Pancreatitis 42
1407 HND004 Hand-Foot-Genital Syndrome 42
1408 c ORF034 Orofaciodigital Syndrome Vi 42
1409 c LRS002 Larsen-Like Syndrome 42
1410 c GM1004 Gm1-Gangliosidosis, Type I 42
1411 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 41
1412 c SYS007 Systemic Capillary Leak Syndrome 41
1413 P SYN012 Synpolydactyly 41
1414 LRW001 Leri-Weill Dyschondrosteosis 41
1415 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 41
1416 CRR002 Currarino Syndrome 41
1417 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1418 HYP776 Hyperparathyroidism, Neonatal Severe 40
1419 c SPN330 Spondylocostal Dysostosis 5 40
1420 SPN060 Spondylocarpotarsal Synostosis Syndrome 40
1421 HRL004 Hurler-Scheie Syndrome 40
1422 P PLY147 Polydactyly, Postaxial, Type A1 39
1423 ACH001 Acheiropody 39
1424 c FRN036 Frontonasal Dysplasia 1 39
1425 FBL002 Fibular Hypoplasia and Complex Brachydactyly 39
1426 PRK003 Parkes Weber Syndrome 39
1427 STV003 Stuve-Wiedemann Syndrome 39
1428 OPS002 Opsismodysplasia 38
1429 c BRC081 Brachydactyly, Type C 38
1430 DPH019 Diaphanospondylodysostosis 38
1431 c GM2005 Gm2-Gangliosidosis, Ab Variant 38
1432 ACR041 Acromelic Frontonasal Dysostosis 38
1433 c OTP007 Otopalatodigital Syndrome, Type Ii 38
1434 P GNG010 Gangliosidosis Gm2 37
1435 PSR016 Psoriatic Juvenile Idiopathic Arthritis 37
1436 P SPL061 Split Hand-Foot Malformation 37
1437 c BRC051 Brachydactyly, Type B1 37
1438 MLG141 Malignant Atrophic Papulosis 37
1439 LRN006 Laurin-Sandrow Syndrome 36
1440 c OTP006 Otopalatodigital Syndrome, Type I 36
1441 P ANX007 Anauxetic Dysplasia 1 36
1442 TNS014 Tenosynovitis 36
1443 XNT009 Xanthoma Disseminatum 36
1444 TRS002 Tarsal-Carpal Coalition Syndrome 36
1445 c STC015 Stickler Syndrome, Type I 36
1446 PLY112 Polyarteritis Nodosa, Childhood-Onset 36
1447 c ADM005 Adams-Oliver Syndrome 1 36
1448 CHN057 Chondrodysplasia, Grebe Type 36
1449 DSM002 Desmosterolosis 36
1450 DYS048 Dysplasia Epiphysealis Hemimelica 36
1451 c BRC109 Brachydactyly, Type E1 36
1452 c SYS061 Systemic Lupus Erythematosus 16 35
1453 P SYN059 Syndactyly, Type V 35
1454 P SMT022 Smith-Mccort Dysplasia 1 35
1455 c SYN061 Syndactyly, Type Iv 35
1456 WYR002 Weyers Acrofacial Dysostosis 35
1457 CTL005 Catel-Manzke Syndrome 35
1458 MTT002 Metatropic Dysplasia 35
1459 c GM1005 Gm1-Gangliosidosis, Type Ii 35
1460 ORB012 Orbital Cancer 34
1461 P CRB154 Cerebrocostomandibular Syndrome 34
1462 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
1463 FBR089 Fibrosclerosis, Multifocal 34
1464 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1465 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34
1466 FMR018 Femoral-Facial Syndrome 34
1467 c FML117 Familial Cold Autoinflammatory Syndrome 2 34
1468 FML307 Familial Calcium Pyrophosphate Deposition 33
1469 LNG040 Langer Mesomelic Dysplasia 33
1470 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
1471 PLS030 Plasminogen Deficiency, Type I 33
1472 ACR016 Acromesomelic Dysplasia 33
1473 CTN019 Cutaneous Polyarteritis Nodosa 32
1474 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 32
1475 P MTP005 Metaphyseal Anadysplasia 32
1476 DYG001 Dyggve-Melchior-Clausen Disease 32
1477 TTH001 Tooth Ankylosis 32
1478 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 32
1479 HYP596 Hypophosphatasia, Childhood 32
1480 SCH030 Schneckenbecken Dysplasia 32
1481 c WLL036 Weill-Marchesani Syndrome 1 31
1482 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
1483 TTR025 Tetraamelia Syndrome, Autosomal Recessive 31
1484 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 31
1485 P PLY148 Polydactyly, Preaxial Ii 31
1486 HMF010 Hemifacial Microsomia with Radial Defects 31
1487 ATN011 Autoinflammation with Infantile Enterocolitis 31
1488 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 31
1489 c PRV019 Periventricular Nodular Heterotopia 1 30
1490 SPN154 Spondyloperipheral Dysplasia 30
1491 HMR015 Humeroradial Synostosis 30
1492 EF001 Eaf 30
1493 MTC018 Metachondromatosis 30
1494 CLV004 Calvarial Hyperostosis 30
1495 c SCK009 Seckel Syndrome 1 30
1496 c WLL037 Weill-Marchesani Syndrome 2 29
1497 c FRN048 Frontometaphyseal Dysplasia 2 29
1498 TRC118 Trichodentoosseous Syndrome 29
1499 c FNC062 Fanconi Anemia, Complementation Group S 29
1500 c GM1006 Gm1-Gangliosidosis, Type Iii 29
1501 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 29
1502 NRG003 Neurogenic Arthropathy 29
1503 c STC013 Stickler Syndrome, Type Ii 29
1504 WLD004 Wildervanck Syndrome 29
1505 c FNC023 Fanconi Anemia, Complementation Group N 29
1506 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 29
1507 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1508 c SCK011 Seckel Syndrome 5 29
1509 c FNC028 Fanconi Anemia, Complementation Group L 29
1510 P XLN161 X-Linked Chondrodysplasia Punctata 29
1511 MSM004 Mesomelia-Synostoses Syndrome 29
1512 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
1513 SPN348 Spondylometaphyseal Dysplasia, Axial 28
1514 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 28
1515 CLL036 Culler-Jones Syndrome 28
1516 FRN022 Frontofacionasal Dysplasia 28
1517 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1518 c MLT059 Multiple Synostoses Syndrome 1 28
1519 c CRN109 Cranioectodermal Dysplasia 2 28
1520 TBL008 Tibial Hemimelia 28
1521 MTP028 Metaphyseal Dysplasia, Spahr Type 28
1522 DYS045 Dysosteosclerosis 28
1523 FBR028 Fibrosing Mediastinitis 28
1524 c SCK010 Seckel Syndrome 4 28
1525 LMB008 Limb-Mammary Syndrome 27
1526 KLB005 Kleeblattschaedel 27
1527 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 27
1528 MSM016 Mesomelic Dysplasia, Kantaputra Type 27
1529 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
1530 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
1531 WSM003 Weismann-Netter Syndrome 27
1532 c ADM007 Adams-Oliver Syndrome 2 27
1533 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
1534 UND007 Undifferentiated Connective Tissue Disease 27
1535 c CRP022 Carpenter Syndrome 2 27
1536 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1537 ACR099 Acrofacial Dysostosis, Catania Type 26
1538 c SYN060 Syndactyly, Type Iii 26
1539 c PRT063 Proteus-Like Syndrome 26
1540 c DNT021 Dent Disease 2 26
1541 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
1542 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 26
1543 c BRC045 Brachyolmia Type 3 26
1544 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
1545 SYN086 Synostoses, Tarsal, Carpal, and Digital 26
1546 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 26
1547 HYP682 Hypertelorism, Teebi Type 26
1548 c ADM010 Adams-Oliver Syndrome 5 26
1549 c CRN134 Cornelia De Lange Syndrome 2 26
1550 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26
1551 NCR009 Necrobiotic Xanthogranuloma 26
1552 PSD030 Pseudodiastrophic Dysplasia 26
1553 ORB009 Orbit Lymphoma 26
1554 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 26
1555 HYP648 Hypertension and Brachydactyly Syndrome 26
1556 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1557 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
1558 c FRN049 Frontometaphyseal Dysplasia 1 25
1559 c SYS043 Systemic Lupus Erythematosus 1 25
1560 STN012 Sting-Associated Vasculopathy, Infantile-Onset 25
1561 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 25
1562 SHR108 Short Stature, Idiopathic, X-Linked 25
1563 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
1564 BJL001 Bejel 25
1565 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
1566 NVR001 Nievergelt Syndrome 25
1567 IGG016 Igg4-Related Dacryoadenitis and Sialadenitis 25
1568 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 25
1569 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 25
1570 PRS051 Parastremmatic Dwarfism 25
1571 VSC050 Vascular Malformation, Primary Intraosseous 25
1572 STR017 Sternum Cancer 25
1573 c PLY149 Polydactyly, Preaxial Iv 25
1574 c FNC048 Fanconi Anemia, Complementation Group O 25
1575 TMP008 Tempi Syndrome 25
1576 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
1577 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
1578 c FNC029 Fanconi Anemia, Complementation Group I 24
1579 DGT005 Digital Arthropathy-Brachydactyly, Familial 24
1580 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 24
1581 RMR001 Ramer Ladda Syndrome 24
1582 c ORF036 Orofaciodigital Syndrome Xiv 24
1583 SLL002 Sella Turcica Neoplasm 24
1584 PYR008 Pyriform Sinus Cancer 24
1585 c SCK015 Seckel Syndrome 2 24
1586 HSH001 Hashimoto-Pritzker Syndrome 24
1587 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1588 c WLL038 Weill-Marchesani Syndrome 3 24
1589 c CRN111 Cranioectodermal Dysplasia 4 24
1590 ACR107 Acrofacial Dysostosis, Palagonia Type 24
1591 PRP090 Peripheral Dysostosis 24
1592 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
1593 c STS007 Sotos Syndrome 2 23
1594 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 23
1595 OCL040 Oculomaxillofacial Dysostosis 23
1596 c CRN209 Cornelia De Lange Syndrome 5 23
1597 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
1598 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 23
1599 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 23
1600 c FNC046 Fanconi Anemia, Complementation Group P 23
1601 c SMT018 Smith-Mccort Dysplasia 2 23
1602 c WLL040 Weill-Marchesani Syndrome 4 23
1603 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
1604 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
1605 FMR016 Femur-Fibula-Ulna Syndrome 23
1606 c ORF046 Orofaciodigital Syndrome Xvi 23
1607 c CRN110 Cranioectodermal Dysplasia 3 23
1608 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 23
1609 BRN123 Branchial Arch Syndrome, X-Linked 23
1610 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 23
1611 AMN014 Aminopterin Syndrome Sine Aminopterin 23
1612 TBS009 Teebi-Shaltout Syndrome 23
1613 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 23
1614 c SCK029 Seckel Syndrome 7 23
1615 SYM024 Symphalangism, Distal 22
1616 PLY135 Polydactyly, Postaxial, with Progressive Myopia 22
1617 c MLT060 Multiple Synostoses Syndrome 2 22
1618 OSB001 Osebold-Remondini Syndrome 22
1619 HYP002 Hypothalamic Neoplasm 22
1620 c CRN221 Craniosynostosis 4 22
1621 c SYM022 Symphalangism, Proximal, 1a 22
1622 c FBR029 Fibrochondrogenesis 1 22
1623 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
1624 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
1625 c CRN215 Cornelia De Lange Syndrome 4 22
1626 c ORF045 Orofaciodigital Syndrome Xv 22
1627 AKL001 Au-Kline Syndrome 22
1628 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22
1629 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1630 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1631 c SCK038 Seckel Syndrome 10 22
1632 c CRN135 Cornelia De Lange Syndrome 3 22
1633 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22
1634 c FNC047 Fanconi Anemia, Complementation Group Q 22
1635 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1636 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
1637 c ADM009 Adams-Oliver Syndrome 4 21
1638 ACR019 Acropectoral Syndrome 21
1639 c ADM012 Adams-Oliver Syndrome 6 21
1640 c MLT078 Multiple Synostoses Syndrome 3 21
1641 c BRC099 Brachydactyly, Type A4 21
1642 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
1643 c SYS038 Systemic Lupus Erythematosus 2 21
1644 c PLY136 Polydactyly, Preaxial I 21
1645 c FNC061 Fanconi Anemia, Complementation Group W 21
1646 c SCK033 Seckel Syndrome 8 21
1647 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
1648 c FNC025 Fanconi Anemia, Complementation Group J 21
1649 c TRC071 Treacher Collins Syndrome 3 21
1650 c PRV018 Periventricular Nodular Heterotopia 7 21
1651 P FML337 Familial Chilblain Lupus 20
1652 c SCK037 Seckel Syndrome 9 20
1653 c ADM008 Adams-Oliver Syndrome 3 20
1654 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 20
1655 SMM003 Summitt Syndrome 20
1656 c FNC057 Fanconi Anemia, Complementation Group U 20
1657 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1658 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1659 KNS006 Kniest-Like Dysplasia, Lethal 20
1660 SKL006 Skull Base Neoplasm 20
1661 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 20
1662 THR032 Thoracolaryngopelvic Dysplasia 20
1663 TBT001 Tabatznik Syndrome 20
1664 c FNC058 Fanconi Anemia, Complementation Group R 20
1665 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 20
1666 c FNC052 Fanconi Anemia, Complementation Group T 20
1667 SCH031 Scholte Syndrome 20
1668 c TRC073 Treacher Collins Syndrome 2 20
1669 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 19
1670 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 19
1671 c FNC056 Fanconi Anemia, Complementation Group V 19
1672 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 19
1673 c FML270 Familial Cold Autoinflammatory Syndrome 4 19
1674 c PRV016 Periventricular Nodular Heterotopia 6 19
1675 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 19
1676 ULN005 Ulna and Fibula, Hypoplasia of 19
1677 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
1678 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1679 c FBR030 Fibrochondrogenesis 2 19
1680 APH015 Aphalangy with Hemivertebrae 19
1681 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
1682 c ANX008 Anauxetic Dysplasia 2 18
1683 c ORF052 Orofaciodigital Syndrome Xviii 18
1684 THR033 Thoracomelic Dysplasia 18
1685 HMR016 Humeroradioulnar Synostosis 18
1686 c ORF051 Orofaciodigital Syndrome Xvii 18
1687 MTC100 Metacarpal 4-5 Fusion 18
1688 SCL051 Scalp Defects and Postaxial Polydactyly 18
1689 BRC100 Brachydactyly, Combined B and E Types 18
1690 DYS180 Dyschondrosteosis and Nephritis 18
1691 c JVN046 Juvenile Polymyositis 18
1692 c SYS046 Systemic Lupus Erythematosus 3 18
1693 SPN349 Spondylometaphyseal Dysplasia, Type A4 18
1694 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
1695 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
1696 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
1697 c SCK032 Seckel Syndrome 6 18
1698 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
1699 DYS049 Dysplastic Cortical Hyperostosis 17
1700 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 17
1701 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 17
1702 c STS009 Sotos Syndrome 3 17
1703 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 17
1704 c SYS069 Systemic Lupus Erythematosus 6 17
1705 FBL014 Fibular Hemimelia 17
1706 OTN001 Otoonychoperoneal Syndrome 17
1707 GNC010 Genochondromatosis 17
1708 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 17
1709 c SYS053 Systemic Lupus Erythematosus 5 17
1710 SGR001 Sugarman Brachydactyly 17
1711 c FLN007 Flna-Related Periventricular Nodular Heterotopia 17
1712 CMP016 Camptobrachydactyly 17
1713 RDL030 Radial-Renal Syndrome 17
1714 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
1715 c CHL114 Chilblain Lupus 2 17
1716 CLD006 Cleidorhizomelic Syndrome 17
1717 ORB002 Orbit Embryonal Rhabdomyosarcoma 17
1718 OCL030 Oculoauriculofrontonasal Syndrome 16
1719 CHR159 Charlie M Syndrome 16
1720 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 16
1721 MMB012 Membranous Cranial Ossification, Delayed 16
1722 ADC008 Adactylia, Unilateral 16
1723 SPN120 Spondylocamptodactyly 16
1724 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1725 c SYM019 Symphalangism, Proximal, 1b 16
1726 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 16
1727 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 16
1728 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 16
1729 LNG102 Long-Thumb Brachydactyly Syndrome 16
1730 TTR010 Tetramelic Monodactyly 16
1731 PLY132 Polysyndactyly, Crossed 16
1732 c PLY163 Polydactyly, Postaxial, Type A2 16
1733 HRR003 Herrmann Opitz Craniosynostosis 16
1734 CXR001 Coxoauricular Syndrome 16
1735 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
1736 ECT086 Ectrodactyly-Polydactyly 15
1737 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 15
1738 c SYS041 Systemic Lupus Erythematosus 9 15
1739 c SYS040 Systemic Lupus Erythematosus 10 15
1740 c PLY137 Polydactyly, Preaxial Iii 15
1741 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
1742 PST104 Postaxial Oligodactyly, Tetramelic 15
1743 CHN027 Chondrodysplasia Lethal Recessive 15
1744 c CLD018 Cleidocranial Dysplasia, Recessive Form 15
1745 AST010 Astley-Kendall Syndrome 15
1746 c MTP014 Metaphyseal Anadysplasia 2 15
1747 c ORF039 Orofaciodigital Syndrome Vii 15
1748 c PLY101 Polydactyly, Postaxial, Type A6 15
1749 DRG017 Drug-Induced Vasculitis 14
1750 c SYS065 Systemic Lupus Erythematosus 11 14
1751 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1752 GGN006 Gigantiform Cementoma, Familial 14
1753 ACR027 Acrodysplasia Scoliosis 14
1754 FRL002 Froelich Syndrome 14
1755 P OTP002 Otopalatodigital Spectrum Disorders 14
1756 TRC112 Trochlea of the Humerus, Aplasia of 14
1757 c PLY144 Polydactyly, Postaxial, Type A7 14
1758 c PLY103 Polydactyly, Postaxial, Type A5 13
1759 c SYS055 Systemic Lupus Erythematosus 12 13
1760 IGG017 Igg4-Related Hepatopathy 13
1761 c MLT166 Multiple Synostoses Syndrome 4 13
1762 NRS002 Neuroaspergillosis 13
1763 c SYS051 Systemic Lupus Erythematosus 4 13
1764 c SYS047 Systemic Lupus Erythematosus 7 13
1765 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 12
1766 NNT044 Neonatal Antiphospholipid Syndrome 12
1767 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 12
1768 c PLY054 Polydactyly, Postaxial, Type A4 12
1769 IGG012 Igg4-Related Submandibular Gland Disease 12
1770 CRN087 Craniomicromelic Syndrome 11
1771 c SYS048 Systemic Lupus Erythematosus 8 11
1772 c SYS052 Systemic Lupus Erythematosus 13 11
1773 c SYS045 Systemic Lupus Erythematosus 14 11
1774 c ATM063 Autoimmune Pancreatitis Type 2 11
1775 c PLY053 Polydactyly, Postaxial, Type A3 11
1776 STR014 Sternum Lymphoma 11
1777 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 11
1778 c SYS067 Systemic Lupus Erythematosus 15 10
1779 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1780 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1781 UNC016 Unclassified Vasculitis 10
1782 NNT046 Neonatal Dermatomyositis 10
1783 FMR002 Femoral Cancer 9
1784 c HLL012 Hallermann-Streiff-Like Syndrome 9
1785 PST031 Postcricoid Region Cancer 9
1786 CND008 Condensing Osteitis of the Clavicle 9
1787 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1788 ARY001 Aryepiglottic Fold Cancer 8
1789 c FCS008 Fucosidosis Type 1 8
1790 MLH001 Melhem Fahl Syndrome 8
1791 DBR003 Dobrow Syndrome 8
1792 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1793 WBS001 Webster Deming Syndrome 8
1794 SFT001 Soft Tissue Peripheral Neuroepithelioma 8
1795 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
1796 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
1797 BNL004 Benallegue Lacete Syndrome 8
1798 c PRS050 Prss1-Related Hereditary Pancreatitis 7
1799 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1800 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
1801 NRH002 Neurohypophysis Granular Cell Tumor 7
1802 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1803 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1804 NNT043 Neonatal Scleroderma 5
1805 PST098 Postinfectious Vasculitis 5
1806 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1807 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
1808 c OCL037 Oculodentodigital Dysplasia Dominant 5
1809 P SYC001 Say Carpenter Syndrome 5
1810 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
1811 P SHW006 Shwachman-Diamond Syndrome 1 62
1812 c SHW007 Shwachman-Diamond Syndrome 2 15
1813 APL001 Aplastic Anemia 73
1814 P DNT011 Dentinogenesis Imperfecta 46
1815 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 56
1816 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 33
1817 KSK002 Kosaki Overgrowth Syndrome 23
1818 PRM288 Permanent Molars, Secondary Retention of 23
1819 BSL036 Basal Cell Nevus Syndrome 65
1820 P NTR004 Neutropenia 60
1821 c ORF040 Orofaciodigital Syndrome Viii 58
1822 c SVR003 Severe Congenital Neutropenia 58
1823 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
1824 c ORF035 Orofaciodigital Syndrome Iv 34
1825 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
1826 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 31
1827 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
1828 c ORF033 Orofaciodigital Syndrome V 27
1829 c ORF038 Orofaciodigital Syndrome Iii 25
1830 c ORF041 Orofaciodigital Syndrome X 25
1831 c ORF043 Orofaciodigital Syndrome Ix 24
1832 c ORF042 Orofaciodigital Syndrome Xi 23
1833 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
1834 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
1835 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
1836 c NTR045 Neutropenia, Chronic Familial 18
1837 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
1838 c ORF006 Orofaciodigital Syndrome 13 13
1839 c ORF005 Orofaciodigital Syndrome 12 13
1840 ACH018 Achondroplasia and Severe Combined Immunodeficiency 7
1841 c ELN001 Elane-Related Neutropenia 7
1842 PMS001 Poems Syndrome 63
1843 CMP075 Campomelia, Cumming Type 27
1844 MNS016 Monosomy 7 of Bone Marrow 24
1845 CRN070 Corneodermatoosseous Syndrome 22
1846 P FML048 Familial Avascular Necrosis of the Femoral Head 17
1847 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
1848 P DST002 Distal Arthrogryposis 56
1849 c ART119 Arthrogryposis, Distal, Type 5 49
1850 c ART120 Arthrogryposis, Distal, Type 3 48
1851 c ART061 Arthrogryposis, Distal, Type 2a 45
1852 c ART144 Arthrogryposis, Distal, Type 1a 44
1853 3MC003 3mc Syndrome 42
1854 c ART146 Arthrogryposis, Distal, Type 9 41
1855 c ART147 Arthrogryposis, Distal, Type 7 34
1856 MND001 Mandibular Cancer 32
1857 c ART112 Arthrogryposis, Distal, Type 10 27
1858 c ART104 Arthrogryposis, Distal, Type 5d 26
1859 c ART122 Arthrogryposis, Distal, Type 8 24
1860 c ART128 Arthrogryposis, Distal, Type 6 23
1861 c ART131 Arthrogryposis, Distal, Type 4 22
1862 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1863 c ART060 Arthrogryposis, Distal, Type 1b 20
1864 THY064 Thyroid Hormone Metabolism, Abnormal 19
1865 ARC009 Auriculoosteodysplasia 17
1866 c ART054 Arthrogryposis, Distal, Type 2e 16
1867 c DNT047 Dentinogenesis Imperfecta Type 2 14
1868 MXL001 Maxillary Neoplasm 11
1869 P FML018 Familial Mediterranean Fever 73
1870 SCK003 Sickle Cell Anemia 72
1871 WGN006 Wegener Granulomatosis 70
1872 KWS002 Kawasaki Disease 70
1873 P SYS005 Systemic Scleroderma 66
1874 P SRC025 Sarcoidosis 1 66
1875 P TMP003 Temporal Arteritis 66
1876 MXD005 Mixed Connective Tissue Disease 65
1877 c LCL006 Localized Scleroderma 64
1878 c SCL052 Scleroderma, Familial Progressive 64
1879 P DRM010 Dermatomyositis 64
1880 RCT015 Reactive Arthritis 63
1881 STH001 Saethre-Chotzen Syndrome 63
1882 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 63
1883 CHR072 Chordoma 63
1884 RCK004 Rickets 62
1885 CNC002 Cinca Syndrome 62
1886 P GCH001 Gaucher's Disease 62
1887 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1888 P CRN038 Carney Complex Variant 61
1889 P FBR017 Fibrosarcoma 61
1890 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1891 P MCK013 Meckel Syndrome, Type 1 59
1892 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
1893 P DNT020 Dent Disease 1 59
1894 PRC002 Paracoccidioidomycosis 58
1895 LCR014 Lacrimoauriculodentodigital Syndrome 58
1896 UND005 Undifferentiated Pleomorphic Sarcoma 58
1897 THR009 Thrombocytopenia-Absent Radius Syndrome 58
1898 c GCH015 Gaucher Disease, Type I 57
1899 P ALL008 Allergic Bronchopulmonary Aspergillosis 57
1900 c HRD002 Hereditary Angioedema 56
1901 CHL028 Childhood Type Dermatomyositis 56
1902 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
1903 PYD001 Pyoderma Gangrenosum 55
1904 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 55
1905 P TRC086 Trichohepatoenteric Syndrome 1 54
1906 P FML052 Familial Cold Autoinflammatory Syndrome 53
1907 c INF071 Inflammatory Bowel Disease 1 53
1908 P INF037 Inflammatory Bowel Disease 53
1909 DFF035 Diffuse Cutaneous Systemic Sclerosis 52
1910 P MRG008 Meier-Gorlin Syndrome 1 52
1911 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
1912 HYP074 Hypersensitivity Vasculitis 51
1913 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50
1914 PLN006 Poland Syndrome 50
1915 c RBN021 Rubinstein-Taybi Syndrome 1 49
1916 RYS001 Reye Syndrome 49
1917 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
1918 P BRT029 Brittle Cornea Syndrome 2 49
1919 LMT001 Limited Scleroderma 49
1920 ADL002 Adult Syndrome 49
1921 P FML068 Familial Hypocalciuric Hypercalcemia 48
1922 LKC005 Leukocyte Adhesion Deficiency, Type Iii 48
1923 SND002 Sneddon Syndrome 48
1924 KMR001 Kimura Disease 48
1925 c GCH017 Gaucher Disease, Type Iii 47
1926 RYN003 Reynolds Syndrome 47
1927 MLT016 Multicentric Reticulohistiocytosis 47
1928 FML091 Familial Tumoral Calcinosis 46
1929 c GCH016 Gaucher Disease, Type Ii 44
1930 c PSR021 Psoriasis 14, Pustular 44
1931 EXT031 Extraosseous Ewing's Sarcoma 44
1932 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 43
1933 P AMY084 Amyloidosis, Finnish Type 43
1934 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 43
1935 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
1936 P ISL078 Isolated Ectopia Lentis 42
1937 P PST059 Pustular Psoriasis 40
1938 c ADL027 Adult Dermatomyositis 40
1939 HYL004 Hyaline Fibromatosis Syndrome 40
1940 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 39
1941 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 39
1942 RPD002 Rapadilino Syndrome 39
1943 c ADL019 Adult Fibrosarcoma 39
1944 c SPL067 Split-Hand/foot Malformation 1 38
1945 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1946 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1947 HYP193 Hypocomplementemic Urticarial Vasculitis 37
1948 c CNG023 Congenital Fibrosarcoma 37
1949 JWC001 Jaw Cancer 37
1950 KKC001 Kikuchi Disease 37
1951 c CRB193 Cerebral Amyloid Angiopathy, App-Related 37
1952 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37
1953 c MNT135 Mental Retardation, X-Linked, Syndromic 13 36
1954 MLN001 Melanotic Neuroectodermal Tumor 36
1955 PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 35
1956 DQR001 De Quervain Disease 35
1957 LYS018 Loeys-Dietz Syndrome 2 35
1958 WRN004 Wrinkly Skin Syndrome 35
1959 c TRC078 Trichohepatoenteric Syndrome 2 34
1960 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 34
1961 ATN013 Autoinflammation, Panniculitis, and Dermatosis Syndrome 34
1962 ARC008 Auriculo-Condylar Syndrome 33
1963 c INF086 Inflammatory Bowel Disease 3 33
1964 ACR025 Acrocephalopolydactylous Dysplasia 32
1965 MHR002 Mohr Syndrome 32
1966 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1967 RFM001 Roifman Syndrome 32
1968 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 31
1969 NTR042 Neutrophilic Dermatosis, Acute Febrile 31
1970 SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31
1971 c MCK033 Meckel Syndrome, Type 4 31
1972 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31
1973 c MCK012 Meckel Syndrome, Type 6 30
1974 c MCK030 Meckel Syndrome, Type 7 30
1975 FTL029 Fetal Thalidomide Syndrome 30
1976 c SRC023 Sarcoidosis 2 29
1977 c CRN243 Carney Complex, Type 1 29
1978 c INF087 Inflammatory Bowel Disease 4 28
1979 c BRT028 Brittle Cornea Syndrome 1 28
1980 c GCH013 Gaucher Disease, Type Iiic 28
1981 c MNT185 Mental Retardation, Autosomal Dominant 7 28
1982 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1983 IVC001 Ivic Syndrome 28
1984 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1985 CSN001 Cousin Syndrome 28
1986 GHS005 Ghosal Hematodiaphyseal Dysplasia 28
1987 c FML253 Familial Cold Autoinflammatory Syndrome 3 28
1988 c MNT212 Mental Retardation, Autosomal Dominant 26 27
1989 c INF089 Inflammatory Bowel Disease 6 26
1990 c INF092 Inflammatory Bowel Disease 9 26
1991 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 26
1992 EVN003 Even-Plus Syndrome 26
1993 c MNT145 Mental Retardation, Autosomal Recessive 5 26
1994 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26
1995 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
1996 c MNT143 Mental Retardation, Autosomal Dominant 13 26
1997 P HRD084 Hereditary Cerebral Amyloid Angiopathy 26
1998 c MCK032 Meckel Syndrome, Type 3 26
1999 c MNT210 Mental Retardation, Autosomal Recessive 42 25
2000 c MNT157 Mental Retardation, Autosomal Dominant 18 25
2001 c MNT280 Mental Retardation, Autosomal Dominant 43 25
2002 c MNT158 Mental Retardation, Autosomal Dominant 22 25
2003 c MNT322 Mental Retardation, Autosomal Dominant 27 25
2004 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 25
2005 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
2006 c MNT270 Mental Retardation, Autosomal Recessive 53 25
2007 c MNT241 Mental Retardation, Autosomal Dominant 32 24
2008 c MNT166 Mental Retardation, Autosomal Recessive 39 24
2009 c MNT222 Mental Retardation, Autosomal Dominant 29 24
2010 c MRG010 Meier-Gorlin Syndrome 3 24
2011 c MNT214 Mental Retardation, Autosomal Dominant 24 24
2012 c MNT287 Mental Retardation, Autosomal Recessive 57 24
2013 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 24
2014 c MNT246 Mental Retardation, Autosomal Dominant 38 24
2015 c INF075 Inflammatory Bowel Disease 16 24
2016 JNT001 Joint Laxity, Familial 24
2017 c MNT213 Mental Retardation, Autosomal Recessive 40 24
2018 c MCK031 Meckel Syndrome, Type 2 23
2019 c MNT242 Mental Retardation, Autosomal Dominant 40 23
2020 c INF088 Inflammatory Bowel Disease 5 23
2021 c MRG015 Meier-Gorlin Syndrome 7 23
2022 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 23
2023 c JVN019 Juvenile Temporal Arteritis 23
2024 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 23
2025 c MNT150 Mental Retardation, Autosomal Recessive 15 23
2026 c MNT239 Mental Retardation, Autosomal Dominant 35 23
2027 c MNT155 Mental Retardation, Autosomal Recessive 2 23
2028 c MNT219 Mental Retardation, Autosomal Dominant 30 23
2029 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
2030 c MNT262 Mental Retardation, Autosomal Dominant 42 23
2031 c FML249 Familial Amyloidosis, Finnish Type 23
2032 c MCK034 Meckel Syndrome, Type 8 23
2033 c MNT226 Mental Retardation, Autosomal Dominant 31 23
2034 c MNT216 Mental Retardation, Autosomal Recessive 41 23
2035 c MNT176 Mental Retardation, Autosomal Recessive 38 23
2036 c MNT321 Mental Retardation, Autosomal Recessive 37 23
2037 c MNT238 Mental Retardation, Autosomal Dominant 34 22
2038 c MNT183 Mental Retardation, Autosomal Recessive 36 22
2039 c MNT273 Mental Retardation, Autosomal Dominant 44 22
2040 CRN104 Craniotelencephalic Dysplasia 22
2041 c MNT282 Mental Retardation, Autosomal Recessive 55 22
2042 c MCK014 Meckel Syndrome, Type 5 22
2043 c MNT159 Mental Retardation, Autosomal Dominant 19 22
2044 c MNT221 Mental Retardation, Autosomal Recessive 44 22
2045 c MNT211 Mental Retardation, Autosomal Dominant 23 22
2046 c MCK035 Meckel Syndrome, Type 10 22
2047 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
2048 c MCK026 Meckel Syndrome 12 22
2049 c MNT245 Mental Retardation, Autosomal Dominant 36 22
2050 c MNT181 Mental Retardation, Autosomal Recessive 35 22
2051 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 22
2052 c MNT236 Mental Retardation, Autosomal Dominant 39 21
2053 c MNT244 Mental Retardation, Autosomal Recessive 49 21
2054 c INF078 Inflammatory Bowel Disease 2 21
2055 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
2056 c MNT179 Mental Retardation, Autosomal Dominant 21 21
2057 c MNT227 Mental Retardation, Autosomal Recessive 46 21
2058 c MNT325 Mental Retardation, Autosomal Recessive 61 21