Bone Diseases Category (2779 diseases)


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

# Family MCID Name MIFTS
1 P PLY180 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1 46
2 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 45
3 P PGT001 Paget's Disease of Bone 59
4 OST012 Osteoarthritis 80
5 c HRD104 Hereditary Multiple Osteochondromas 44
6 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 42
7 P OST002 Osteoporosis 74
8 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 41
9 BRT054 Brittle Bone Disorder 70
10 P OST001 Osteopetrosis 63
11 c OST163 Osteopetrosis, Autosomal Recessive 3 52
12 c OST126 Osteopetrosis, Autosomal Recessive 1 37
13 c OST120 Osteopetrosis, Autosomal Recessive 5 30
14 CHR288 Chronic Recurrent Multifocal Osteomyelitis 56
15 P BNC003 Bone Cancer 62
16 P OST080 Osteogenesis Imperfecta, Type Ii 58
17 FML345 Familial Expansile Osteolysis 45
18 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 30
19 GRC002 Gracile Bone Dysplasia 28
20 c OST131 Osteopetrosis, Autosomal Dominant 2 55
21 OST159 Osteogenic Sarcoma 66
22 P RHM011 Rheumatoid Arthritis 81
23 CRT002 Cartilage-Hair Hypoplasia 56
24 WRT006 Worth Type Autosomal Dominant Osteosclerosis 11
25 c OST135 Osteogenesis Imperfecta, Type I 57
26 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 54
27 c OST129 Osteopetrosis, Autosomal Recessive 2 46
28 c OST136 Osteopetrosis, Autosomal Recessive 7 45
29 c OST134 Osteopetrosis, Autosomal Recessive 6 32
30 c OST122 Osteogenesis Imperfecta, Type Iii 58
31 c OST164 Osteoporosis, Juvenile 56
32 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 40
33 GRH001 Gorham's Disease 39
34 c FML169 Familial Osteochondritis Dissecans 31
35 c JVN010 Juvenile Rheumatoid Arthritis 70
36 c OST119 Osteogenesis Imperfecta, Type Vii 49
37 BSC001 Buschke-Ollendorff Syndrome 53
38 OST044 Osteoglophonic Dysplasia 53
39 ALB001 Albright's Hereditary Osteodystrophy 51
40 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 42
41 c OST137 Osteopetrosis, Autosomal Recessive 4 29
42 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
43 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 31
44 KHL001 Kohler's Disease 19
45 LGG001 Legg-Calve-Perthes Disease 62
46 BNG036 Bone Giant Cell Tumor 50
47 BNW001 Bone Ewing's Sarcoma 48
48 GRN013 Greenberg Dysplasia 34
49 HJD001 Hajdu-Cheney Syndrome 62
50 BNT003 Bent Bone Dysplasia Syndrome 41
51 TRC039 Tracheobronchopathia Osteoplastica 18
52 CRT017 Cartilage Disease 53
53 c OST125 Osteopetrosis, Autosomal Dominant 1 29
54 GRD006 Geroderma Osteodysplastica 22
55 c OST121 Osteogenesis Imperfecta, Type Iv 49
56 c OST132 Osteogenesis Imperfecta, Type Vi 41
57 RNS001 Raine Syndrome 52
58 ONC003 Oncogenic Osteomalacia 45
59 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 27
60 c PRM243 Primary Bone Cancer 19
61 c JVN025 Juvenile Primary Osteoporosis 15
62 OST003 Osteonecrosis 67
63 ENC044 Enchondromatosis, Multiple, Ollier Type 54
64 CRP009 Carpotarsal Osteochondromatosis 9
65 BND020 Bone Disease 64
66 OST016 Osteochondrosis 58
67 END081 Endosteal Hyperostosis, Autosomal Dominant 56
68 OSG001 Osgood-Schlatter's Disease 40
69 AXL003 Axial Osteomalacia 32
70 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 21
71 OST022 Osteopathia Striata with Cranial Sclerosis 45
72 SCH072 Scheuermann Disease 40
73 MJD001 Majeed Syndrome 33
74 MLT033 Multicentric Osteolysis Nephropathy 10
75 P NGT001 Negative Rheumatoid Factor Polyarthritis 8
76 BNM001 Bone Marrow Cancer 60
77 P CNT056 Cantu Syndrome 50
78 ANR009 Aneurysmal Bone Cysts 48
79 c EXS019 Exostoses, Multiple, Type I 47
80 OST014 Osteopoikilosis 39
81 c OST130 Osteogenesis Imperfecta, Type Ix 33
82 c OST128 Osteogenesis Imperfecta, Type Xii 31
83 MLR010 Melorheostosis with Osteopoikilosis 24
84 DNT050 Dentin Dysplasia with Sclerotic Bones 14
85 c CNT094 Cantú Syndrome and Related Disorders 5
86 P OST009 Osteochondritis Dissecans 59
87 ODN023 Odontochondrodysplasia 56
88 OST032 Osteofibrous Dysplasia 52
89 c OST124 Osteogenesis Imperfecta, Type V 48
90 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 33
91 c OST118 Osteogenesis Imperfecta, Type Viii 45
92 BNS001 Bone Osteosarcoma 39
93 CYS041 Cystic Angiomatosis of Bone, Diffuse 31
94 KNB002 Kienbock's Disease 30
95 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 29
96 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26
97 P BNM015 Bone Mineral Density Quantitative Trait Locus 18 25
98 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 24
99 NVC001 Navicular Bone, Accessory 18
100 c OST110 Osteogenesis Imperfecta, Type Xv 39
101 c OST127 Osteogenesis Imperfecta, Type X 33
102 c OST133 Osteogenesis Imperfecta, Type Xi 32
103 c OST123 Osteogenesis Imperfecta, Type Xiii 28
104 c OST139 Osteogenesis Imperfecta, Type Xvi 28
105 c OST109 Osteogenesis Imperfecta, Type Xiv 24
106 PCM001 Pacman Dysplasia 21
107 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 16
108 OSS012 Osseous Heteroplasia, Progressive 58
109 c PSD108 Pseudohypoparathyroidism, Type Ia 56
110 P CHN012 Chondrosarcoma 56
111 P PSD015 Pseudohypoparathyroidism 51
112 GNT026 Gnathodiaphyseal Dysplasia 37
113 CDS002 Codas Syndrome 32
114 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 18
115 c LCL005 Localized Chondrosarcoma 9
116 c LYS021 Loeys-Dietz Syndrome 3 57
117 P LYS001 Loeys-Dietz Syndrome 57
118 c LYS019 Loeys-Dietz Syndrome 1 57
119 RNL011 Renal Osteodystrophy 49
120 c LYS018 Loeys-Dietz Syndrome 2 44
121 MLN014 Melnick-Needles Syndrome 42
122 GRD005 Geroderma Osteodysplasticum 30
123 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 25
124 c OST138 Osteogenesis Imperfecta, Type Xvii 24
125 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 23
126 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 20
127 OSL001 Oslam Syndrome 19
128 OST149 Osteolysis Syndrome, Recessive 19
129 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 16
130 FRN047 Frontonasal Dysplasia with Alar Clefts 15
131 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
132 OST013 Osteosarcoma Arising in Bone Paget's Disease 7
133 DST005 Diastrophic Dysplasia 52
134 CHN054 Chondrodysplasia, Blomstrand Type 45
135 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 32
136 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
137 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 52
138 ANT003 Antley-Bixler Syndrome 44
139 KTL001 Keutel Syndrome 39
140 BMR001 Boomerang Dysplasia 34
141 c KNN007 Kenny-Caffey Syndrome, Type 2 29
142 c BNM010 Bone Marrow Failure Syndrome 1 27
143 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 25
144 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 25
145 OST117 Osteomesopyknosis 21
146 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 15
147 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 13
148 MCC012 Mccune-Albright Syndrome 65
149 P THN009 Thanatophoric Dysplasia, Type I 64
150 P CMR001 Camurati-Engelmann Disease 61
151 CMP005 Campomelic Dysplasia 58
152 P MLT007 Multiple Epiphyseal Dysplasia 56
153 KNS001 Kniest Dysplasia 54
154 P THR117 Three M Syndrome 1 50
155 c SCN005 Secondary Hypertrophic Osteoarthropathy 45
156 P PRM018 Primary Hypertrophic Osteoarthropathy 45
157 P BLN001 Blount's Disease 41
158 JXT003 Juxtacortical Osteosarcoma 41
159 c PGT007 Paget Disease of Bone 3 39
160 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 39
161 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 38
162 SLT009 Solitary Bone Cyst 37
163 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 36
164 PRP024 Peripheral Osteosarcoma 34
165 P INH011 Inherited Bone Marrow Failure Syndromes 34
166 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 31
167 NST002 Nestor-Guillermo Progeria Syndrome 29
168 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
169 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 29
170 c PGT009 Paget Disease of Bone 2, Early-Onset 28
171 CNV007 Conventional Central Osteosarcoma 27
172 SML003 Small Cell Osteogenic Sarcoma 26
173 c OST106 Osteopetrosis, Autosomal Recessive 8 25
174 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 16
175 QZM001 Qazi Markouizos Syndrome 15
176 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 14
177 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 14
178 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
179 OST034 Osteogenesis Imperfecta Levin Type 10
180 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
181 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
182 LRY012 Laryngeal Cartilage Cancer 8
183 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
184 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 6
185 ACH004 Achondroplasia 68
186 OST017 Osteomyelitis 64
187 NLP001 Nail-Patella Syndrome 54
188 OST011 Osteomalacia 52
189 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 49
190 EXS001 Exostosis 47
191 OST004 Osteitis Fibrosa 45
192 P CLC057 Cole-Carpenter Syndrome 36
193 OST062 Osteoarthritis with Mild Chondrodysplasia 31
194 TRC115 Tracheopathia Osteoplastica 28
195 c PGT011 Paget Disease of Bone 6 23
196 c BNM011 Bone Marrow Failure Syndrome 2 22
197 EKN001 Eiken Syndrome 22
198 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 20
199 SHR027 Short Stature Wormian Bones Dextrocardia 13
200 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 58
201 PSD014 Pseudopseudohypoparathyroidism 55
202 SCH068 Schwartz-Jampel Syndrome, Type 1 54
203 BNN003 Bone Inflammation Disease 48
204 SKL017 Skeletal Dysplasias 46
205 GLC086 Glucocorticoid-Induced Osteoporosis 46
206 MRS004 Marshall-Smith Syndrome 40
207 P ACH011 Achondrogenesis 40
208 P BNL002 Bone Lymphoma 32
209 HMM004 Hamamy Syndrome 31
210 SKL001 Skeletal Tuberculosis 31
211 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 26
212 SLW006 Saul-Wilson Syndrome 24
213 c OST169 Osteogenesis Imperfecta, Type Xviii 24
214 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 23
215 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 21
216 BND017 Bone Dysplasia, Lethal, Holmgren Type 20
217 BRS030 Breast Osteosarcoma 20
218 OST047 Osteopenia and Sparse Hair 19
219 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 17
220 OST058 Osteopoikilosis and Dacryocystitis 16
221 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 15
222 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 14
223 KDN010 Kidney Osteogenic Sarcoma 13
224 CHS003 Chest Wall Bone Cancer 9
225 ADM013 Adamantinoma of Long Bones 63
226 P CLD001 Cleidocranial Dysplasia 62
227 WVR001 Weaver Syndrome 60
228 BNR002 Bone Resorption Disease 54
229 P OST028 Osteochondroma 51
230 MLT145 Multiple Enchondromatosis, Maffucci Type 50
231 c BNM029 Bone Mineral Density Quantitative Trait Locus 15 46
232 FLT006 Floating-Harbor Syndrome 44
233 P BRC015 Bruck Syndrome 43
234 PRS029 Periosteal Osteogenic Sarcoma 42
235 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 40
236 FBR013 Fibrosarcomatous Osteosarcoma 39
237 CHP002 Chops Syndrome 38
238 FRN039 Frank-Ter Haar Syndrome 37
239 P EXT032 Extraosseous Osteosarcoma 37
240 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 36
241 DYS013 Dysbaric Osteonecrosis 36
242 SKL003 Skeletal Muscle Cancer 36
243 RHY001 Rhyns Syndrome 35
244 WNC001 Winchester Syndrome 32
245 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 31
246 STY001 Satoyoshi Syndrome 31
247 BNP002 Bone Epithelioid Hemangioma 27
248 BNG005 Bone Giant Cell Sarcoma 26
249 HGH023 High Bone Mass Osteogenesis Imperfecta 26
250 c OST170 Osteogenesis Imperfecta, Type Xix 22
251 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
252 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 21
253 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 19
254 FRB005 Freiberg's Disease 16
255 c CLD018 Cleidocranial Dysplasia, Recessive Form 16
256 OST172 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 16
257 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 16
258 PYK001 Pyknoachondrogenesis 15
259 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
260 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15
261 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 15
262 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 15
263 PLY028 Polycystic Bone Disease 14
264 c ADL034 Adult Extraosseous Osteosarcoma 13
265 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 11
266 BWN005 Bowing of Long Bones Congenital 11
267 CHL007 Childhood Extraosseous Osteosarcoma 10
268 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
269 HPT017 Hepatic Osteogenic Sarcoma 9
270 MDS009 Mediastinal Osteogenic Sarcoma 9
271 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 8
272 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 8
273 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
274 c SPN225 Spondyloarthropathy 1 75
275 FBR011 Fibrodysplasia Ossificans Progressiva 65
276 P SPN052 Spondyloarthropathy 59
277 HYP068 Hyperostosis 51
278 SPH001 Sapho Syndrome 50
279 BNF002 Bone Fracture 48
280 YNS002 Yunis-Varon Syndrome 47
281 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 47
282 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 45
283 P ATL001 Atelosteogenesis 41
284 ACR002 Acrocapitofemoral Dysplasia 39
285 OPS002 Opsismodysplasia 37
286 c ATL011 Atelosteogenesis, Type I 37
287 CZC002 Czech Dysplasia 29
288 MTC018 Metachondromatosis 29
289 c JVN047 Juvenile Spondyloarthropathy 28
290 KYP002 Kyphomelic Dysplasia 27
291 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 23
292 c SPN226 Spondyloarthropathy 2 14
293 c SPN256 Spondyloarthropathy 3 11
294 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 8
295 c MCP050 Mucopolysaccharidosis, Type Ii 66
296 c MCP049 Mucopolysaccharidosis, Type Vii 64
297 c MCP001 Mucopolysaccharidosis Iii 63
298 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
299 c MCP004 Mucopolysaccharidosis Iv 59
300 HYP042 Hypochondroplasia 58
301 SPN008 Spondyloepiphyseal Dysplasia Congenita 57
302 PSD012 Pseudoachondroplasia 54
303 c MCP043 Mucopolysaccharidosis, Type Iiia 52
304 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 52
305 PYL017 Pyle Disease 51
306 FBR009 Fibrous Dysplasia 49
307 GRN034 Grange Syndrome 47
308 PYC001 Pycnodysostosis 47
309 c MCP044 Mucopolysaccharidosis, Type Iiib 44
310 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 43
311 c OTP006 Otopalatodigital Syndrome, Type I 41
312 STV003 Stuve-Wiedemann Syndrome 40
313 OST006 Osteoblastoma 40
314 c OTP007 Otopalatodigital Syndrome, Type Ii 40
315 LRW001 Leri-Weill Dyschondrosteosis 39
316 c MCP051 Mucopolysaccharidosis, Type Ix 38
317 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 37
318 c ATL015 Atelosteogenesis, Type Ii 36
319 c DNT025 Dentinogenesis Imperfecta 1 35
320 c MCP045 Mucopolysaccharidosis, Type Iiic 34
321 CHR543 Chromosome 2q37 Deletion Syndrome 34
322 c MCP046 Mucopolysaccharidosis, Type Iiid 32
323 P LTH003 Lethal Congenital Contracture Syndrome 31
324 AKL001 Au-Kline Syndrome 31
325 c EXS020 Exostoses, Multiple, Type Ii 31
326 c BRC047 Bruck Syndrome 1 30
327 SCH030 Schneckenbecken Dysplasia 28
328 c LTH039 Lethal Congenital Contracture Syndrome 11 26
329 c LTH027 Lethal Congenital Contracture Syndrome 5 26
330 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
331 c LTH031 Lethal Congenital Contracture Syndrome 6 25
332 c LTH042 Lethal Congenital Contracture Syndrome 10 24
333 c LTH047 Lethal Congenital Contracture Syndrome 3 23
334 c LTH032 Lethal Congenital Contracture Syndrome 7 23
335 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 23
336 GRR002 Gurrieri Syndrome 23
337 c LTH029 Lethal Congenital Contracture Syndrome 9 23
338 c LTH030 Lethal Congenital Contracture Syndrome 8 22
339 c BNM032 Bone Marrow Failure Syndrome 4 22
340 c OST171 Osteopetrosis, Autosomal Dominant 3 22
341 STR088 Stratton-Parker Syndrome 22
342 c ERL004 Early Yaws 20
343 c LTH026 Lethal Congenital Contracture Syndrome 4 20
344 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 19
345 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
346 c LTY001 Late Yaws 19
347 BRC095 Brachydactyly, Mononen Type 17
348 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 15
349 P OTP002 Otopalatodigital Spectrum Disorders 14
350 MGC006 Magic Syndrome 13
351 c DNT048 Dentinogenesis Imperfecta Type 3 12
352 BMR003 Beemer Ertbruggen Syndrome 9
353 PNN003 Panner Disease 9
354 LNG027 Long Bones of Lower Limb Cancer 8
355 P FNC027 Fanconi Anemia, Complementation Group a 81
356 P HYP035 Hypophosphatasia 57
357 ALK013 Alkaptonuria 57
358 ARM001 Aromatase Deficiency 51
359 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 49
360 c LYS017 Loeys-Dietz Syndrome 4 48
361 c ATS282 Autosomal Recessive Malignant Osteopetrosis 46
362 TLN002 Telangiectatic Osteogenic Sarcoma 46
363 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 45
364 MLR003 Melorheostosis 45
365 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44
366 c FNC057 Fanconi Anemia, Complementation Group U 44
367 c FNC046 Fanconi Anemia, Complementation Group P 43
368 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
369 MLG014 Malignant Fibrous Histiocytoma of Bone 42
370 c DSB006 Desbuquois Dysplasia 1 40
371 c EPP012 Epiphyseal Dysplasia, Multiple, 2 38
372 c FNC062 Fanconi Anemia, Complementation Group S 38
373 OST097 Osteoporotic Fracture 36
374 CHN003 Chondroblastic Osteosarcoma 35
375 PDT021 Pediatric Osteosarcoma 35
376 SKL002 Skeletal Muscle Neoplasm 35
377 c FNC058 Fanconi Anemia, Complementation Group R 35
378 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 35
379 FBR002 Fibrosarcoma of Bone 34
380 c FNC056 Fanconi Anemia, Complementation Group V 33
381 BNR001 Bone Remodeling Disease 32
382 P DSB002 Desbuquois Dysplasia 30
383 SPN154 Spondyloperipheral Dysplasia 30
384 LCL004 Localized Osteosarcoma 29
385 c BNM013 Bone Marrow Failure Syndrome 3 25
386 P GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 24
387 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 24
388 c CLC056 Cole-Carpenter Syndrome 1 23
389 c FNC061 Fanconi Anemia, Complementation Group W 23
390 ACR016 Acromesomelic Dysplasia 23
391 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 21
392 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 21
393 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 21
394 P MLT017 Multifocal Osteogenic Sarcoma 20
395 c PRM151 Primary Bone Lymphoma 20
396 CLV014 Calvarial Doughnut Lesions with Bone Fragility 20
397 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 19
398 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 19
399 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
400 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 18
401 c PGT006 Paget Disease of Bone 4 18
402 BMR004 Beemer Lethal Malformation Syndrome 17
403 LSS034 Lissencephaly Type Iii and Bone Dysplasia 17
404 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
405 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 16
406 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
407 LPS001 Liposarcoma of Bone 14
408 INT073 Intracortical Osteogenic Sarcoma 14
409 SYN002 Synchronous Multifocal Osteogenic Sarcoma 13
410 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 13
411 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 12
412 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 12
413 DST098 Distal Osteosclerosis 11
414 PNT007 Penttinen-Aula Syndrome 10
415 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 10
416 BNN002 Bone Angioendothelial Sarcoma 10
417 OST156 Osteosclerosis with Ichthyosis and Fractures 9
418 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 9
419 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 8
420 CHL041 Childhood Intracortical Osteosarcoma 7
421 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 7
422 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
423 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 6
424 CHL001 Childhood Parosteal Osteogenic Sarcoma 6
425 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
426 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
427 MTC001 Metachronous Osteosarcoma of the Bone 5
428 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 5
429 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
430 CTR016 Cataract Skeletal Anomalies 3
431 HYD022 Hydrocephalus Skeletal Anomalies 3
432 OCL029 Oculo Skeletal Renal Syndrome 3
433 BRT025 Brittle Bone Syndrome Lethal Type 3
434 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
435 CRN080 Craniofacial and Skeletal Defects 3
436 CRP008 Carpo Tarsal Osteolysis Recessive 3
437 DWR010 Dwarfism Thin Bones Multiple Fractures 3
438 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
439 c PST038 Positive Rheumatoid Factor Polyarthritis 3
440 CTS007 Cutis Laxa Osteoporosis 3
441 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 2
442 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 2
443 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 61
444 RBR001 Roberts Syndrome 55
445 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
446 CFF003 Caffey Disease 51
447 P VNB005 Van Buchem Disease 50
448 c THN010 Thanatophoric Dysplasia, Type Ii 50
449 BLL001 Baller-Gerold Syndrome 50
450 P INF049 Infantile Myofibromatosis 50
451 P RBN002 Robinow Syndrome 47
452 c ACH033 Achondrogenesis, Type Ia 45
453 P HRD001 Hereditary Multiple Exostoses 45
454 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 45
455 BRD001 Brody Myopathy 45
456 c TRC092 Trichorhinophalangeal Syndrome, Type I 44
457 c ATS082 Autosomal Dominant Robinow Syndrome 43
458 HYP596 Hypophosphatasia, Childhood 43
459 CHN004 Chondroblastoma 41
460 P OTS002 Otospondylomegaepiphyseal Dysplasia 41
461 c RBN018 Robinow Syndrome, Autosomal Dominant 1 41
462 c PSD117 Pseudohypoparathyroidism, Type Ic 40
463 c MYF007 Myofibromatosis, Infantile, 1 40
464 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
465 OST115 Osteonecrosis of the Jaw 38
466 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
467 END059 Endocrine-Cerebroosteodysplasia 36
468 LTR009 Lateral Meningocele Syndrome 35
469 MTT002 Metatropic Dysplasia 35
470 TRC118 Trichodentoosseous Syndrome 31
471 OST160 Osteoid Osteoma 31
472 P SNG014 Singleton-Merten Syndrome 31
473 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
474 BND014 Bone Development Disease 30
475 CPL004 Caplan's Syndrome 29
476 P BRC003 Brachyolmia 29
477 DYS045 Dysosteosclerosis 29
478 c ACR044 Acroosteolysis Dominant Type 29
479 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 29
480 SPR031 Sprengel Deformity 28
481 BNS002 Bone Structure Disease 26
482 c BRC048 Bruck Syndrome 2 25
483 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
484 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 24
485 SCR025 Scarf Syndrome 24
486 PTR001 Petrositis 24
487 P TRC031 Trichorhinophalangeal Syndrome 23
488 c FBR029 Fibrochondrogenesis 1 22
489 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
490 OST168 Osteosclerotic Metaphyseal Dysplasia 21
491 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 20
492 c XLN229 X-Linked Chondrodysplasia Punctata 2 20
493 SHR114 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 20
494 GRN016 Grant Syndrome 20
495 c HYP831 Hyperparathyroidism, Transient Neonatal 20
496 c VNB004 Van Buchem Disease, Type 2 19
497 c BRC053 Brachyolmia Type 2 19
498 c BNM033 Bone Marrow Failure Syndrome 5 19
499 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
500 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 19
501 c SPN121 Spondylocostal Dysostosis 1 18
502 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
503 ULN007 Ulna Metaphyseal Dysplasia Syndrome 16
504 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
505 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 15
506 c SPN122 Spondylocostal Dysostosis 2 13
507 c RR2001 Ror2-Related Robinow Syndrome 13
508 c SPN123 Spondylocostal Dysostosis 3 12
509 c SPN124 Spondylocostal Dysostosis 4 11
510 CHR633 Choroidal Osteoma, Bilateral 10
511 BTT012 Battaglia-Neri Syndrome 8
512 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
513 P ART022 Arthritis 77
514 CRZ001 Crouzon Syndrome 70
515 CNN005 Connective Tissue Disease 67
516 P MYP004 Myopathy 64
517 c MCL062 Mucolipidosis Ii Alpha/beta 64
518 HLT001 Holt-Oram Syndrome 61
519 ELL001 Ellis-Van Creveld Syndrome 60
520 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 59
521 c MCL013 Mucolipidosis Iv 58
522 c MCL046 Mucolipidosis Iii Alpha/beta 56
523 c PSD066 Pseudohypoparathyroidism, Type Ib 53
524 c MYP132 Myopathy, Congenital 52
525 P PLG001 Pelger-Huet Anomaly 52
526 OCC006 Occipital Horn Syndrome 51
527 P HMC002 Homocystinuria 51
528 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 49
529 HYP017 Hypophosphatemia 49
530 c EPP017 Epiphyseal Dysplasia, Multiple, 1 48
531 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
532 P CHN059 Chondrocalcinosis 48
533 SYN031 Synovial Chondromatosis 48
534 P LRS001 Larsen Syndrome 47
535 CRN005 Craniofrontonasal Syndrome 47
536 P KLP003 Klippel-Feil Syndrome 46
537 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
538 P OSS001 Ossifying Fibroma 46
539 P MCL001 Mucolipidosis 45
540 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
541 P FRN012 Frontometaphyseal Dysplasia 44
542 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 44
543 P CNG003 Congenital Dyserythropoietic Anemia 42
544 c MCL016 Mucolipidosis Iii Gamma 42
545 c LRS002 Larsen-Like Syndrome 41
546 MCP033 Mucopolysaccharidoses 41
547 PTL009 Patella, Chondromalacia of 41
548 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 41
549 ACH001 Acheiropody 41
550 HYP041 Hypochondrogenesis 40
551 CRN049 Craniolenticulosutural Dysplasia 39
552 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
553 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 38
554 DNT045 Dental Anomalies and Short Stature 37
555 P SMT022 Smith-Mccort Dysplasia 1 37
556 PTC001 Potocki-Shaffer Syndrome 37
557 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
558 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
559 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
560 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 37
561 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 37
562 CHN057 Chondrodysplasia, Grebe Type 36
563 LNG040 Langer Mesomelic Dysplasia 35
564 RHM013 Rheumatoid Nodulosis 35
565 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
566 BNS004 Bone Squamous Cell Carcinoma 34
567 c TRN014 Transient Arthritis 33
568 CHN070 Cohen-Gibson Syndrome 30
569 ISC005 Ischemic Bone Disease 30
570 HYP674 Hyperostosis Cranialis Interna 30
571 c FRN048 Frontometaphyseal Dysplasia 2 30
572 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
573 c ATL012 Atelosteogenesis, Type Iii 29
574 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 29
575 c CRB100 Cerebrooculofacioskeletal Syndrome 4 29
576 WSM003 Weismann-Netter Syndrome 28
577 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
578 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
579 c CRB098 Cerebrooculofacioskeletal Syndrome 2 28
580 BND004 Bone Deterioration Disease 28
581 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
582 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 28
583 c SNG011 Singleton-Merten Syndrome 1 27
584 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
585 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 27
586 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27
587 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 27
588 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 25
589 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
590 c CMR006 Camurati-Engelmann Disease, Type 2 23
591 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
592 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 22
593 BNB001 Bone Benign Neoplasm 22
594 SPC025 Specific Granule Deficiency 2 22
595 CRN272 Craniometadiaphyseal Dysplasia 22
596 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 22
597 BNC005 Bone Chondrosarcoma 21
598 PRT108 Puerto Rican Infant Hypotonia Syndrome 21
599 c FBR030 Fibrochondrogenesis 2 19
600 c GNR020 Gne-Related Myopathy 19
601 FBL014 Fibular Hemimelia 19
602 c JVN045 Juvenile Ossifying Fibroma 17
603 SHR023 Short Stature Syndrome, Brussels Type 17
604 c CHN021 Chondrocalcinosis 1 16
605 VND003 Van Den Bosch Syndrome 16
606 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 15
607 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 15
608 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 14
609 SHR119 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 14
610 c PSD024 Pseudo Pelger-Huet Anomaly 14
611 HNT009 Hunter-Mcalpine Syndrome 13
612 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 11
613 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
614 ORB004 Orbital Osteomyelitis 11
615 SND010 Sinding-Larsen-Johansson Disease 10
616 VRL015 Verloes Van Maldergem Marneffe Syndrome 9
617 c BNG038 Benign Autosomal Dominant Myopathy 9
618 MCH009 Michels Caskey Syndrome 8
619 RZN001 Rozin Hertz Goodman Syndrome 8
620 RCH003 Richieri Costa Da Silva Syndrome 7
621 BNM012 Bone Ameloblastoma 6
622 HKF001 Ho Kaufman Mcalister Syndrome 6
623 PTT018 Petit-Fryns Syndrome 5
624 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 4
625 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 4
626 P DMN001 Diamond-Blackfan Anemia 70
627 c HRD010 Hereditary Spastic Paraplegia 68
628 SCH036 Scheie Syndrome 67
629 P DYS007 Dyskeratosis Congenita 67
630 P KLL001 Kallmann Syndrome 63
631 P TRC072 Treacher Collins Syndrome 1 63
632 c MCP052 Mucopolysaccharidosis, Type Vi 61
633 P NTR004 Neutropenia 60
634 P MLG056 Malignant Hyperthermia 60
635 SPN060 Spondylocarpotarsal Synostosis Syndrome 59
636 MNK003 Muenke Syndrome 59
637 P SYP003 Syphilis 58
638 P CTS001 Cutis Laxa 58
639 P PLY041 Polymyositis 58
640 c SVR003 Severe Congenital Neutropenia 58
641 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
642 P STC001 Stickler Syndrome 56
643 ARS001 Aarskog-Scott Syndrome 56
644 P MSC003 Muscular Atrophy 56
645 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
646 RLP001 Relapsing Polychondritis 55
647 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
648 c BRC078 Brachydactyly, Type A1 54
649 c HYP293 Hypophosphatasia, Adult 54
650 AGN012 Agnathia-Otocephaly Complex 53
651 c DMN023 Diamond-Blackfan Anemia 1 53
652 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
653 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
654 P CNT004 Centronuclear Myopathy 52
655 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
656 CNN011 Cenani-Lenz Syndactyly Syndrome 51
657 JCK001 Jackson-Weiss Syndrome 51
658 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
659 P BRC006 Brachydactyly 50
660 P CRN013 Craniodiaphyseal Dysplasia 50
661 c HYP292 Hypophosphatasia, Infantile 50
662 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
663 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
664 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
665 P FBR025 Fibrochondrogenesis 49
666 c RBN009 Robinow Syndrome, Autosomal Recessive 49
667 P MYT023 Myotonia Congenita 49
668 P SCL048 Sclerosteosis 48
669 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
670 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
671 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
672 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
673 c ACH042 Achondrogenesis, Type Ib 47
674 ACR013 Acrodysostosis 47
675 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
676 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
677 c PRM022 Primary Syphilis 45
678 P HRD086 Hereditary Hypophosphatemic Rickets 45
679 PYM001 Pyomyositis 45
680 MYP100 Myopathy, X-Linked, with Excessive Autophagy 45
681 c BRC060 Brachydactyly, Type E2 45
682 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
683 ASP005 Asphyxiating Thoracic Dystrophy 44
684 CNT060 Central Serous Chorioretinopathy 44
685 c SCL042 Sclerosteosis 2 44
686 c BRC052 Brachydactyly, Type B2 44
687 SLT001 Solitary Osseous Plasmacytoma 44
688 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
689 KSH004 Kashin-Beck Disease 43
690 c PRG001 Progressive Muscular Atrophy 43
691 c MYP123 Myopathy, Centronuclear, 1 43
692 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
693 c BRC062 Brachydactyly, Type D 42
694 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
695 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
696 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
697 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
698 P HYP776 Hyperparathyroidism, Neonatal Severe 42
699 TRN004 Trench Fever 42
700 FCL041 Focal Myositis 42
701 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
702 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
703 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
704 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
705 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
706 c MLG147 Malignant Hyperthermia 1 41
707 MYT030 Myotonia, Potassium-Aggravated 41
708 P ANX007 Anauxetic Dysplasia 1 41
709 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
710 c EPP013 Epiphyseal Dysplasia, Multiple, 5 40
711 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
712 c CNG033 Congenital Syphilis 40
713 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
714 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
715 P PRT042 Parietal Foramina 40
716 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
717 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
718 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
719 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
720 c MYT029 Myotonia Congenita, Autosomal Recessive 39
721 c STC015 Stickler Syndrome, Type I 39
722 c SCN006 Secondary Syphilis 39
723 c MYP131 Myopathy, Centronuclear, 2 39
724 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
725 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
726 GNT001 Giant Cell Reparative Granuloma 39
727 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
728 MSS002 Mass Syndrome 38
729 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
730 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
731 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
732 P ACR062 Acroosteolysis 38
733 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
734 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
735 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
736 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 37
737 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
738 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
739 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 37
740 OST008 Osteosclerotic Myeloma 37
741 c SCL045 Sclerosteosis 1 36
742 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
743 EST007 Estrogen Resistance 36
744 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
745 DYS048 Dysplasia Epiphysealis Hemimelica 36
746 ISC016 Ischiocoxopodopatellar Syndrome 36
747 c ATS076 Autosomal Recessive Stickler Syndrome 36
748 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
749 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
750 SPR126 Superior Semicircular Canal Dehiscence 36
751 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
752 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
753 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 35
754 P SPS012 Spastic Paraplegia 3a 35
755 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
756 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
757 P OMD003 Omodysplasia 34
758 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
759 TRC097 Tracheomalacia 34
760 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
761 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
762 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
763 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
764 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
765 VRH001 Verheij Syndrome 33
766 c DMN021 Diamond-Blackfan Anemia 6 33
767 c SPS039 Spastic Paraplegia 5a 33
768 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
769 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
770 c KNN009 Kenny-Caffey Syndrome, Type 1 33
771 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
772 c SPS036 Spastic Paraplegia 3 33
773 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
774 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
775 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
776 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
777 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
778 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
779 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 31
780 RHM008 Rheumatic Myocarditis 31
781 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
782 c SPS091 Spastic Paraplegia 4 31
783 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
784 c ACQ027 Acquired Cutis Laxa 31
785 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
786 c SPS021 Spastic Paraplegia 10 30
787 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
788 c PRT059 Parietal Foramina 1 30
789 c STC013 Stickler Syndrome, Type Ii 30
790 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
791 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
792 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
793 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
794 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
795 12Q002 12q14 Microdeletion Syndrome 29
796 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
797 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
798 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
799 c SPS092 Spastic Paraplegia 11 29
800 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
801 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
802 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
803 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
804 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
805 ACR095 Acrofacial Dysostosis, Cincinnati Type 29
806 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
807 c SPS025 Spastic Paraplegia 15 28
808 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
809 WDW001 Widow's Peak 28
810 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
811 c DMN017 Diamond-Blackfan Anemia 10 28
812 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 28
813 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
814 c HRD186 Hereditary Spastic Paraplegia 51 28
815 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 28
816 MSM004 Mesomelia-Synostoses Syndrome 27
817 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
818 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
819 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
820 c SMT018 Smith-Mccort Dysplasia 2 27
821 c LTC001 Late Congenital Syphilis 27
822 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
823 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
824 c SPS027 Spastic Paraplegia 17 27
825 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
826 c FRN049 Frontometaphyseal Dysplasia 1 27
827 HYP754 Hypophosphatemic Bone Disease 26
828 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
829 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
830 PRS051 Parastremmatic Dwarfism 26
831 c DMN022 Diamond-Blackfan Anemia 9 26
832 c BRC045 Brachyolmia Type 3 26
833 c PRT060 Parietal Foramina 2 26
834 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 26
835 c BRC099 Brachydactyly, Type A4 25
836 c SPS013 Spastic Paraplegia 8 25
837 c DMN019 Diamond-Blackfan Anemia 4 25
838 c OMD002 Omodysplasia 2 25
839 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
840 c SPS020 Spastic Paraplegia 1 25
841 c SPS041 Spastic Paraplegia 6 25
842 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
843 LBN004 Liebenberg Syndrome 24
844 TRS030 Tarsal Coalition 24
845 ELS005 Elastoma 24
846 c DMN040 Diamond-Blackfan Anemia 16 24
847 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 24
848 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24
849 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
850 c DMN024 Diamond-Blackfan Anemia 7 24
851 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
852 c SPS023 Spastic Paraplegia 13 24
853 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
854 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
855 c SPS042 Spastic Paraplegia 9 23
856 SHS001 Shashi-Pena Syndrome 23
857 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 23
858 c DMN006 Diamond-Blackfan Anemia 3 23
859 c DMN020 Diamond-Blackfan Anemia 8 23
860 c DMN005 Diamond-Blackfan Anemia 2 22
861 c DMN018 Diamond-Blackfan Anemia 5 22
862 c SPS037 Spastic Paraplegia 31 22
863 c BRC080 Brachydactyly, Type A1, B 22
864 c BRC075 Brachydactyly, Type A1, C 22
865 P CLL020 Collagenopathy Type 2 Alpha 1 22
866 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
867 OSB001 Osebold-Remondini Syndrome 22
868 c BRC108 Brachydactyly, Type A3 22
869 c MYP098 Myopathy, Centronuclear, 4 22
870 c SPS028 Spastic Paraplegia 18 22
871 c MLG151 Malignant Hyperthermia 5 22
872 c DMN029 Diamond-Blackfan Anemia 11 22
873 c MYP148 Myopathy, Centronuclear, 5 22
874 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 22
875 c MLG148 Malignant Hyperthermia 2 22
876 c SPS034 Spastic Paraplegia 26 22
877 c ATP003 Atp6v0a2-Related Cutis Laxa 22
878 c ERL002 Early Congenital Syphilis 22
879 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 21
880 c MLG149 Malignant Hyperthermia 3 21
881 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
882 c BRC105 Brachydactyly, Type A1, D 21
883 c ANX008 Anauxetic Dysplasia 2 21
884 c MLG150 Malignant Hyperthermia 4 21
885 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
886 c SPS022 Spastic Paraplegia 12 20
887 c STC011 Stickler Syndrome, Type V 20
888 c NTR045 Neutropenia, Chronic Familial 20
889 c DMN028 Diamond-Blackfan Anemia 12 20
890 c DMN039 Diamond-Blackfan Anemia 17 20
891 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
892 c SPS032 Spastic Paraplegia 24 20
893 c HRD210 Hereditary Spastic Paraplegia 23 20
894 ACH002 Achilles Bursitis 20
895 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
896 c JVN046 Juvenile Polymyositis 20
897 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
898 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
899 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
900 c SPS029 Spastic Paraplegia 19 20
901 c SNG012 Singleton-Merten Syndrome 2 19
902 c DMN030 Diamond-Blackfan Anemia 13 19
903 c STC012 Stickler Syndrome, Type Iv 19
904 c STC007 Stickler Syndrome, Type 3 19
905 c SPS033 Spastic Paraplegia 25 19
906 c SPS035 Spastic Paraplegia 29 19
907 c SPS038 Spastic Paraplegia 39 19
908 BSL042 Basilar Impression, Primary 19
909 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
910 c SPS080 Spastic Paraplegia 51 19
911 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
912 IDP069 Idiopathic Avascular Necrosis 18
913 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
914 c SPS026 Spastic Paraplegia 16 18
915 KNN010 Kennerknecht Syndrome 18
916 MZB001 Mazabraud Syndrome 18
917 c SPS161 Spastic Paraplegia 32 18
918 c BRC035 Brachydactyly Type A5 18
919 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 18
920 GLP002 Geleophysic Dwarfism 18
921 c HRD188 Hereditary Spastic Paraplegia 72 18
922 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
923 c EFM001 Efemp2-Related Cutis Laxa 18
924 RBB001 Ribbing Disease 18
925 HDZ001 Hadziselimovic Syndrome 18
926 c DMN047 Diamond-Blackfan Anemia 18 18
927 c MYF010 Myofibromatosis, Infantile, 2 17
928 c SPS024 Spastic Paraplegia 14 17
929 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 17
930 c LTB003 Ltbp4-Related Cutis Laxa 17
931 c MLG152 Malignant Hyperthermia 6 17
932 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 16
933 c DMN045 Diamond-Blackfan Anemia-Like 16
934 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 16
935 c DMN048 Diamond-Blackfan Anemia 19 16
936 c PRT113 Parietal Foramina 3 15
937 c DMN049 Diamond-Blackfan Anemia 20 15
938 VLF001 Velofacioskeletal Syndrome 15
939 c BLN020 Blount Disease, Infantile 15
940 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 15
941 c SPS040 Spastic Paraplegia 5b 15
942 P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 14
943 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 14
944 c SPS230 Spastic Paraplegia Type 49 14
945 OST173 Osteoradionecrosis of the Mandible 14
946 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 14
947 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 14
948 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 14
949 CLB032 Coloboma of Macula and Skeletal Anomalies 14
950 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 14
951 PHL009 Phalangeal Microgeodic Syndrome 14
952 BLN021 Blount Disease, Adolescent 14
953 PRM291 Premature Aging Syndrome, Okamoto Type 13
954 c SPS165 Spastic Paraplegia 47 13
955 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 13
956 BNK001 Banki Syndrome 13
957 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 13
958 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13
959 c KLL008 Kallmann Syndrome 6 13
960 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
961 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
962 ISL032 Isolated Bone Marrow Mastocytosis 12
963 EPM003 Epimetaphyseal Skeletal Dysplasia 12
964 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
965 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 12
966 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
967 SKL024 Skeletal-Extraskeletal Angiomatosis 12
968 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 12
969 ANP010 Anaplastic Plasmacytoma 11
970 c KLL005 Kallmann Syndrome 3 11
971 VNB002 Van Bogaert-Hozay Syndrome 11
972 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11
973 c BRC037 Brachydactyly Type A7 11
974 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 10
975 FYP001 Faye-Petersen-Ward-Carey Syndrome 10
976 c CLC009 Clcn7-Related Osteopetrosis 10
977 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 10
978 c KLL007 Kallmann Syndrome 5 10
979 THN012 Thanatophoric Dysplasia, Glasgow Variant 10
980 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
981 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
982 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 10
983 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 10
984 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 10
985 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
986 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 10
987 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
988 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
989 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 10
990 OSS016 Ossified Ear Cartilages 10
991 BNL001 Bone Leiomyosarcoma 9
992 c KLL006 Kallmann Syndrome 4 9
993 NSL024 Nasal Bones, Absence of 9
994 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 9
995 c FBL003 Fbln5-Related Cutis Laxa 9
996 ANG057 Angioosteohypotrophic Syndrome 9
997 INV019 Inverse Klippel-Trénaunay Syndrome 9
998 SKL009 Skeletal Dysplasia, San Diego Type 9
999 c CLL016 Collagenopathy, Types Ii and Xi 9
1000 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
1001 CTK001 Cote Katsantoni Syndrome 8
1002 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 8
1003 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 8
1004 MGR005 Megarbane Syndrome 8
1005 OST161 Osteoma of Middle Ear 8
1006 OST155 Osteomas of Mandible 8
1007 PNS013 Panostotic Fibrous Dysplasia 8
1008 IDP078 Idiopathic Phalangeal Acro-Osteolysis 7
1009 SLV009 Slavotinek Pike Mills Hurst Syndrome 7
1010 BNP003 Bone Pain, Periodic 7
1011 PBC001 Pubic Bone Dysplasia 7
1012 EXP005 Expansile Bone Lesions 7
1013 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
1014 c LRP007 Lrp5-Related Primary Osteoporosis 6
1015 c ELN001 Elane-Related Neutropenia 6
1016 PNT008 Pointer Syndrome 6
1017 OST166 Osteoma of Cranial Vault, Familial 6
1018 P BNS005 Bone Size Quantitative Trait Locus 1 6
1019 c BNS006 Bone Size Quantitative Trait Locus 2 6
1020 PRM165 Primary Plasmacytoma of the Bone 6
1021 CNT014 Central Nervous System Osteosarcoma 6
1022 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 5
1023 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
1024 ALS004 Alsing Syndrome 5
1025 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 5
1026 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 5
1027 SND004 Sandhaus Ben-Ami Syndrome 4
1028 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
1029 CHT003 Chitty Hall Webb Syndrome 4
1030 TRC050 Tricho-Dento-Osseous Syndrome 1 4
1031 KZL005 Kozlowski Warren Fisher Syndrome 4
1032 THD001 Theodor Hertz Goodman Syndrome 4
1033 RGN002 Reginato Shiapachasse Syndrome 4
1034 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
1035 BND005 Bone Dysplasia Azouz Type 3
1036 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
1037 BND008 Bone Dysplasia Moore Type 3
1038 VGN025 Vagneur Triolle Ripert Syndrome 3
1039 SKL008 Skeletal Dysplasia Orofacial Anomalies 3
1040 SST002 Sost-Related Sclerosing Bone Dysplasias 3
1041 c SYS001 Systemic Lupus Erythematosus 88
1042 MYL069 Myeloma, Multiple 85
1043 PFF001 Pfeiffer Syndrome 80
1044 P SRC025 Sarcoidosis 1 76
1045 P NRF023 Neurofibromatosis, Type Ii 75
1046 MRF001 Marfan Syndrome 75
1047 BHC003 Behcet Syndrome 74
1048 KWS002 Kawasaki Disease 71
1049 P LPS004 Lupus Erythematosus 69
1050 P TMP003 Temporal Arteritis 69
1051 APR006 Apert Syndrome 69
1052 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
1053 GRN037 Granulomatosis with Polyangiitis 69
1054 P ART023 Arthropathy 68
1055 c PRM196 Premature Ovarian Failure 1 68
1056 SMT004 Smith-Lemli-Opitz Syndrome 68
1057 P HYD006 Hydrocephalus 67
1058 P SYS005 Systemic Scleroderma 67
1059 TKY002 Takayasu Arteritis 66
1060 P GCH001 Gaucher's Disease 66
1061 ADL030 Adult-Onset Still's Disease 65
1062 c GCH015 Gaucher Disease, Type I 65
1063 STH001 Saethre-Chotzen Syndrome 65
1064 P AMY004 Amyloidosis 64
1065 c CNG411 Congenital Disorder of Glycosylation, Type in 64
1066 P RHN004 Rhinitis 64
1067 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
1068 INC002 Inclusion Body Myositis 63
1069 P SHW006 Shwachman-Diamond Syndrome 1 63
1070 P CRN015 Cornelia De Lange Syndrome 63
1071 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1072 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
1073 P MCK013 Meckel Syndrome, Type 1 62
1074 GT001 Gout 62
1075 PLS011 Plasmacytoma 62
1076 HNC001 Henoch-Schoenlein Purpura 61
1077 c GCH016 Gaucher Disease, Type Ii 61
1078 KLP010 Klippel-Trenaunay-Weber Syndrome 61
1079 VSC003 Visceral Leishmaniasis 61
1080 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
1081 P HST010 Histiocytosis 60
1082 P SJG008 Sjogren Syndrome 60
1083 CHR619 Chromosome 2q35 Duplication Syndrome 60
1084 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
1085 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
1086 c ANG068 Angioedema, Hereditary, Type I 58
1087 P OCL013 Oculodentodigital Dysplasia 58
1088 P SCL018 Scoliosis 58
1089 c FNC042 Fanconi Anemia, Complementation Group D2 58
1090 c CRP023 Carpenter Syndrome 1 58
1091 c GCH017 Gaucher Disease, Type Iii 58
1092 HYP730 Hypogonadotropic Hypogonadism 58
1093 GRN051 Granulomatous Disease, Chronic, X-Linked 57
1094 P ANG015 Angioedema 57
1095 P PLY006 Polydactyly 57
1096 c CRN139 Cornelia De Lange Syndrome 1 57
1097 SMT008 Smith-Magenis Syndrome 57
1098 LCR014 Lacrimoauriculodentodigital Syndrome 57
1099 GDP001 Goodpasture Syndrome 56
1100 OST024 Osteoporosis-Pseudoglioma Syndrome 56
1101 ANK001 Ankylosis 56
1102 GRG001 Greig Cephalopolysyndactyly Syndrome 56
1103 c ALM001 Al Amyloidosis 55
1104 P AGG001 Aggressive Periodontitis 55
1105 ASP002 Aspartylglucosaminuria 55
1106 c AMY009 Amyloidosis Aa 55
1107 SPN019 Spondylolisthesis 55
1108 ERD001 Erdheim-Chester Disease 55
1109 MCR088 Microscopic Polyangiitis 55
1110 P HLL001 Hallermann-Streiff Syndrome 55
1111 P CRN108 Cranioectodermal Dysplasia 1 55
1112 SPN051 Spondylitis 55
1113 HRL003 Hurler Syndrome 55
1114 c ANM036 Anemia, Sideroblastic, 1 54
1115 P FNC044 Fanconi Anemia, Complementation Group C 54
1116 FLT011 Felty Syndrome 54
1117 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
1118 P NLD001 Nail Disease 54
1119 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1120 P SCK004 Seckel Syndrome 54
1121 MLT135 Multiple Sulfatase Deficiency 54
1122 c BRC051 Brachydactyly, Type B1 54
1123 P OTS001 Otosclerosis 53
1124 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
1125 c ART144 Arthrogryposis, Distal, Type 1a 53
1126 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
1127 c ART120 Arthrogryposis, Distal, Type 3 52
1128 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1129 c PRD039 Periodontitis, Aggressive, 1 52
1130 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
1131 P MYP087 Myopathy, Tubular Aggregate, 1 52
1132 ESN015 Eosinophilic Fasciitis 52
1133 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 52
1134 GLC012 Galactosialidosis 52
1135 DGN001 Degenerative Disc Disease 51
1136 SYN005 Synostosis 51
1137 HMR002 Hemarthrosis 50
1138 c ACR116 Aicardi-Goutieres Syndrome 1 50
1139 DYG001 Dyggve-Melchior-Clausen Disease 50
1140 P WLL002 Weill-Marchesani Syndrome 50
1141 c NML002 Nemaline Myopathy 1 50
1142 DRG013 Drug-Induced Lupus Erythematosus 50
1143 CTY001 Cat Eye Syndrome 50
1144 c BRC109 Brachydactyly, Type E1 50
1145 c RBN021 Rubinstein-Taybi Syndrome 1 50
1146 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
1147 DRM013 Dermoid Cyst 49
1148 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 49
1149 P CLS054 Classic Ehlers-Danlos Syndrome 49
1150 P PRX021 Proximal Symphalangism 49
1151 c ACH041 Achondrogenesis, Type Ii 49
1152 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1153 PLN005 Palindromic Rheumatism 49
1154 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1155 HYP088 Hyper-Igd Syndrome 49
1156 MCR225 Macrophage Activation Syndrome 49
1157 c NML003 Nemaline Myopathy 2 49
1158 c GM2006 Gm2 Gangliosidosis 49
1159 P NML001 Nemaline Myopathy 48
1160 c HRD039 Hereditary Amyloidosis 48
1161 ACR058 Acrofacial Dysostosis 1, Nager Type 48
1162 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
1163 c FNC032 Fanconi Anemia, Complementation Group B 48
1164 DYS018 Dysostosis 48
1165 c SCK009 Seckel Syndrome 1 47
1166 MLT134 Multiple Pterygium Syndrome, Lethal Type 47
1167 CLB002 Clubfoot 47
1168 c JVN003 Juvenile Xanthogranuloma 47
1169 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 47
1170 P GNG009 Gangliosidosis 47
1171 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
1172 c ART155 Arthrogryposis, Distal, Type 2b1 47
1173 P FNG006 Feingold Syndrome 1 46
1174 ANT039 Antisynthetase Syndrome 46
1175 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 46
1176 c BRC079 Brachydactyly, Type A2 46
1177 c FNC028 Fanconi Anemia, Complementation Group L 46
1178 SND002 Sneddon Syndrome 46
1179 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
1180 c CRN243 Carney Complex, Type 1 45
1181 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 45
1182 c BRC081 Brachydactyly, Type C 45
1183 P MLT072 Multiple Synostoses Syndrome 45
1184 c FNC029 Fanconi Anemia, Complementation Group I 45
1185 P MNN018 Mannosidosis 45
1186 P RDL002 Radioulnar Synostosis 45
1187 c FNC045 Fanconi Anemia, Complementation Group F 45
1188 P CPL003 Capillary Leak Syndrome 45
1189 P SCL057 Scoliosis, Isolated 1 45
1190 c SYS007 Systemic Capillary Leak Syndrome 45
1191 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 45
1192 VLL003 Villonodular Synovitis 45
1193 CHN010 Chondroma 44
1194 SHR098 Short-Rib Thoracic Dysplasia 12 44
1195 P CHN044 Chondrodysplasia Punctata Syndrome 44
1196 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
1197 c MCK032 Meckel Syndrome, Type 3 44
1198 CHN053 Chondromyxoid Fibroma 44
1199 c NML004 Nemaline Myopathy 3 44
1200 c MCK012 Meckel Syndrome, Type 6 44
1201 P SYN012 Synpolydactyly 44
1202 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 44
1203 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1204 c PRM093 Premature Ovarian Failure 7 44
1205 RHM035 Rheumatic Fever-Related Antigen 44
1206 P ANL018 Analbuminemia 44
1207 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
1208 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
1209 c FNC025 Fanconi Anemia, Complementation Group J 43
1210 PRM057 Paramyotonia Congenita of Von Eulenburg 43
1211 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
1212 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43
1213 EPC002 Epicondylitis 43
1214 c CNG023 Congenital Fibrosarcoma 43
1215 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
1216 c SPN330 Spondylocostal Dysostosis 5 42
1217 FBL002 Fibular Hypoplasia and Complex Brachydactyly 42
1218 c SPL034 Split-Hand/foot Malformation 4 42
1219 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
1220 c EPP014 Epiphyseal Dysplasia, Multiple, 4 42
1221 c FNC023 Fanconi Anemia, Complementation Group N 42
1222 HND004 Hand-Foot-Genital Syndrome 42
1223 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
1224 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
1225 SPN029 Spondylolysis 42
1226 HMF009 Hemifacial Hyperplasia 42
1227 HYL004 Hyaline Fibromatosis Syndrome 42
1228 P PST059 Pustular Psoriasis 42
1229 c ACQ012 Acquired Angioedema 42
1230 P YWS001 Yaws 42
1231 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1232 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 41
1233 CRR002 Currarino Syndrome 41
1234 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
1235 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
1236 SPN331 Spondyloocular Syndrome 41
1237 MYH012 Myhre Syndrome 41
1238 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
1239 ISL121 Isolated Split Hand-Split Foot Malformation 41
1240 P MTC010 Mitochondrial Dna Depletion Syndrome 41
1241 c SCK015 Seckel Syndrome 2 41
1242 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1243 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
1244 HYD003 Hydrarthrosis 40
1245 SPN036 Spinal Chordoma 40
1246 ESN017 Eosinophilic Granuloma 40
1247 GNT031 Genitopatellar Syndrome 40
1248 IDP070 Idiopathic Scoliosis 40
1249 c CHR048 Chronic Rhinitis 40
1250 LRN006 Laurin-Sandrow Syndrome 40
1251 P SPL061 Split Hand-Foot Malformation 40
1252 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
1253 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
1254 c NML005 Nemaline Myopathy 4 40
1255 c HYD064 Hydrocephalus, Congenital, 1 39
1256 c MCK033 Meckel Syndrome, Type 4 39
1257 HRL004 Hurler-Scheie Syndrome 39
1258 c VNM003 Van Maldergem Syndrome 1 39
1259 c MCK031 Meckel Syndrome, Type 2 39
1260 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
1261 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 38
1262 LTT002 Letterer-Siwe Disease 38
1263 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1264 c SPL024 Split-Hand/foot Malformation 3 38
1265 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 38
1266 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 38
1267 HYP007 Hypermobility Syndrome 38
1268 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
1269 CPM001 Cap Myopathy 38
1270 P PRD037 Periodontal Ehlers-Danlos Syndrome 38
1271 PDT035 Pediatric Systemic Lupus Erythematosus 38
1272 c FNC048 Fanconi Anemia, Complementation Group O 38
1273 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
1274 c SCP001 Sc Phocomelia Syndrome 38
1275 SHL001 Shoulder Impingement Syndrome 38
1276 SYN086 Synostoses, Tarsal, Carpal, and Digital 37
1277 c SPL070 Split-Hand/foot Malformation 2 37
1278 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
1279 DPH019 Diaphanospondylodysostosis 37
1280 c ADL019 Adult Fibrosarcoma 37
1281 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
1282 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
1283 c MCK014 Meckel Syndrome, Type 5 37
1284 MND025 Mandibulofacial Dysostosis with Alopecia 37
1285 c INF092 Inflammatory Bowel Disease 9 37
1286 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
1287 MLG141 Malignant Atrophic Papulosis 37
1288 FNC030 Fanconi Anemia, Complementation Group G 37
1289 c SPL033 Split-Hand/foot Malformation 6 37
1290 P CRB154 Cerebrocostomandibular Syndrome 37
1291 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
1292 PRS037 Periostitis 36
1293 TRS002 Tarsal-Carpal Coalition Syndrome 36
1294 RVL002 Ruvalcaba Syndrome 36
1295 MYL002 Myelophthisic Anemia 36
1296 LMB008 Limb-Mammary Syndrome 36
1297 P GLP001 Geleophysic Dysplasia 36
1298 EPP011 Epiphyseal Chondrodysplasia, Miura Type 36
1299 OLC001 Olecranon Bursitis 36
1300 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1301 OCH001 Ochronosis 36
1302 P DVL012 Developmental Dysplasia of the Hip 1 36
1303 c NML006 Nemaline Myopathy 5 36
1304 MST019 Mastoiditis 36
1305 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
1306 XNT009 Xanthoma Disseminatum 36
1307 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 36
1308 CLV002 Clivus Chordoma 36
1309 c FNC047 Fanconi Anemia, Complementation Group Q 35
1310 c INF087 Inflammatory Bowel Disease 4 35
1311 ANG062 Angioosteohypertrophic Syndrome 35
1312 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
1313 c SVR040 Severe Congenital Nemaline Myopathy 35
1314 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
1315 c TYP024 Type Ii Mixed Cryoglobulinemia 35
1316 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
1317 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 35
1318 c TRC078 Trichohepatoenteric Syndrome 2 35
1319 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 34
1320 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1321 TRG019 Trigonocephaly with Short Stature and Developmental Delay 34
1322 c FNC052 Fanconi Anemia, Complementation Group T 34
1323 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
1324 c SYS043 Systemic Lupus Erythematosus 1 34
1325 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
1326 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
1327 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 34
1328 CNS013 Constricting Bands, Congenital 34
1329 P SYN059 Syndactyly, Type V 34
1330 P NNT042 Neonatal Lupus Erythematosus 34
1331 c SPL025 Split-Hand/foot Malformation 5 34
1332 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
1333 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
1334 c SYN061 Syndactyly, Type Iv 34
1335 P CXV002 Coxa Vara 34
1336 INF159 Infantile Sialic Acid Storage Disease 33
1337 IDP041 Idiopathic Recurrent Pericarditis 33
1338 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1339 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
1340 MYC015 Mycobacterium Fortuitum 33
1341 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 33
1342 c MYT027 Myotonia Congenita, Autosomal Dominant 33
1343 TRM011 Terminal Osseous Dysplasia 33
1344 c CRN109 Cranioectodermal Dysplasia 2 33
1345 ENC014 Enchondroma 33
1346 UND007 Undifferentiated Connective Tissue Disease 33
1347 c MCK034 Meckel Syndrome, Type 8 33
1348 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 33
1349 BRC004 Brachydactyly-Syndactyly Syndrome 33
1350 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
1351 c GLP003 Geleophysic Dysplasia 1 33
1352 NNT039 Neonatal Marfan Syndrome 33
1353 CTN019 Cutaneous Polyarteritis Nodosa 32
1354 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 32
1355 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
1356 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
1357 c RBN008 Rubinstein-Taybi Syndrome 2 32
1358 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1359 CHN009 Chondroid Chordoma 32
1360 c SYN084 Synpolydactyly 1 32
1361 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1362 c WLL036 Weill-Marchesani Syndrome 1 32
1363 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
1364 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 32
1365 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 32
1366 P PLY148 Polydactyly, Preaxial Ii 32
1367 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
1368 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
1369 MLR023 Melorheostosis, Isolated 32
1370 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 31
1371 c GLP004 Geleophysic Dysplasia 2 31
1372 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1373 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 31
1374 c INT274 Intermediate Congenital Nemaline Myopathy 31
1375 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
1376 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1377 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1378 P MTP005 Metaphyseal Anadysplasia 31
1379 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1380 CVR001 Cavernous Sinus Meningioma 31
1381 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
1382 MTP028 Metaphyseal Dysplasia, Spahr Type 31
1383 ISL062 Isolated Plagiocephaly 31
1384 ALG027 Al-Gazali-Bakalinova Syndrome 31
1385 P ACR106 Acrocephalopolysyndactyly Type Iii 31
1386 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 31
1387 c ACR081 Aicardi-Goutieres Syndrome 6 31
1388 c INF086 Inflammatory Bowel Disease 3 31
1389 SPN125 Spondyloenchondrodysplasia 31
1390 c SCK010 Seckel Syndrome 4 31
1391 c INF089 Inflammatory Bowel Disease 6 30
1392 HMF010 Hemifacial Microsomia with Radial Defects 30
1393 TBR007 Tuberculum Sellae Meningioma 30
1394 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
1395 c SCK011 Seckel Syndrome 5 30
1396 P ADL037 Adult Xanthogranuloma 30
1397 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
1398 EF001 Eaf 30
1399 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 30
1400 P VNM004 Van Maldergem Syndrome 30
1401 WLD005 Wild Type Attr Amyloidosis 30
1402 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1403 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
1404 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 30
1405 c DSB005 Desbuquois Dysplasia 2 30
1406 PTL002 Patellofemoral Pain Syndrome 30
1407 c WLL037 Weill-Marchesani Syndrome 2 30
1408 c ATS210 Autosomal Recessive Sideroblastic Anemia 30
1409 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 29
1410 ACR017 Acrofacial Dysostosis 29
1411 KMM001 Kummell's Disease 29
1412 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
1413 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
1414 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1415 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 29
1416 FBR028 Fibrosing Mediastinitis 29
1417 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
1418 ISL096 Isolated Klippel-Feil Syndrome 29
1419 STL007 Steel Syndrome 29
1420 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1421 CRN264 Craniosynostosis with Fibular Aplasia 29
1422 HYP682 Hypertelorism, Teebi Type 29
1423 INN003 Iniencephaly 29
1424 CLV004 Calvarial Hyperostosis 29
1425 PTR002 Petroclival Meningioma 29
1426 c PLY149 Polydactyly, Preaxial Iv 29
1427 c OMD001 Omodysplasia 1 29
1428 c PLY136 Polydactyly, Preaxial I 29
1429 KLB005 Kleeblattschaedel 28
1430 c INF088 Inflammatory Bowel Disease 5 28
1431 WLD004 Wildervanck Syndrome 28
1432 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
1433 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
1434 BNG069 Benign Cephalic Histiocytosis 28
1435 c STS007 Sotos Syndrome 2 28
1436 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
1437 HMR015 Humeroradial Synostosis 28
1438 P SKL005 Skull Base Meningioma 28
1439 c FRN033 Frontonasal Dysplasia 2 28
1440 FRN022 Frontofacionasal Dysplasia 28
1441 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
1442 OCL040 Oculomaxillofacial Dysostosis 28
1443 c ART104 Arthrogryposis, Distal, Type 5d 28
1444 VND005 Van Den Ende-Gupta Syndrome 28
1445 HLS001 Heel Spur 28
1446 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
1447 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1448 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 28
1449 c SYM022 Symphalangism, Proximal, 1a 28
1450 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
1451 HYP679 Hypoglossia-Hypodactylia 27
1452 c LYS020 Loeys-Dietz Syndrome 5 27
1453 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1454 c THR069 Three M Syndrome 2 27
1455 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
1456 c OTF003 Otofaciocervical Syndrome 2 27
1457 c MCK028 Meckel Syndrome 13 27
1458 TBL008 Tibial Hemimelia 27
1459 ACR099 Acrofacial Dysostosis, Catania Type 27
1460 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 27
1461 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 27
1462 CRY024 Crystal Arthropathies 27
1463 DGT002 Digital Clubbing, Isolated Congenital 27
1464 c ANG045 Angioedema, Hereditary, Type Iii 27
1465 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27
1466 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
1467 c CRP022 Carpenter Syndrome 2 27
1468 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 27
1469 LMB069 Lamb-Shaffer Syndrome 27
1470 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1471 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1472 c MRG010 Meier-Gorlin Syndrome 3 26
1473 NCR009 Necrobiotic Xanthogranuloma 26
1474 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 26
1475 c PRM089 Premature Ovarian Failure 3 26
1476 BJL001 Bejel 26
1477 c INF075 Inflammatory Bowel Disease 16 26
1478 c PSD107 Pseudo-Torch Syndrome 2 26
1479 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1480 PST044 Postorgasmic Illness Syndrome 26
1481 RMR001 Ramer Ladda Syndrome 26
1482 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 26
1483 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
1484 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 26
1485 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
1486 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 26
1487 c NML022 Nemaline Myopathy 10 26
1488 ASS004 Aase-Smith Syndrome I 26
1489 c MRG015 Meier-Gorlin Syndrome 7 26
1490 HYP648 Hypertension and Brachydactyly Syndrome 26
1491 EPP010 Epiphysiolysis of the Hip 26
1492 ORB011 Orbit Rhabdomyosarcoma 26
1493 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 26
1494 c MYP088 Myopathy, Tubular Aggregate, 2 26
1495 c MCK035 Meckel Syndrome, Type 10 26
1496 c CRN135 Cornelia De Lange Syndrome 3 26
1497 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 26
1498 c NML007 Nemaline Myopathy 6 25
1499 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25
1500 c VNM002 Van Maldergem Syndrome 2 25
1501 CHR159 Charlie M Syndrome 25
1502 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 25
1503 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
1504 c ART131 Arthrogryposis, Distal, Type 4 25
1505 c ADL068 Adult-Onset Nemaline Myopathy 25
1506 c WLL040 Weill-Marchesani Syndrome 4 25
1507 P NNT006 Neonatal Myasthenia Gravis 25
1508 IGG008 Igg4-Related Mesenteritis 25
1509 TTR023 Tetraamelia-Multiple Malformations Syndrome 25
1510 c CRN215 Cornelia De Lange Syndrome 4 25
1511 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
1512 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 25
1513 c PRM192 Premature Ovarian Failure 8 25
1514 c MLT060 Multiple Synostoses Syndrome 2 25
1515 c INF078 Inflammatory Bowel Disease 2 25
1516 CMB064 Combined Oxidative Phosphorylation Deficiency 24 25
1517 PRR001 Periarthritis 25
1518 c CRN209 Cornelia De Lange Syndrome 5 25
1519 c FRN032 Frontonasal Dysplasia 3 25
1520 ISL089 Isolated Scaphocephaly 25
1521 c ART122 Arthrogryposis, Distal, Type 8 25
1522 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 25
1523 c WLL038 Weill-Marchesani Syndrome 3 25
1524 HSH001 Hashimoto-Pritzker Syndrome 25
1525 SGL002 Sagliker Syndrome 25
1526 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25
1527 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 25
1528 c ACR103 Acrofrontofacionasal Dysostosis 1 25
1529 c SYN060 Syndactyly, Type Iii 24
1530 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
1531 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 24
1532 P KNN002 Kenny-Caffey Syndrome 24
1533 PLY135 Polydactyly, Postaxial, with Progressive Myopia 24
1534 ISL087 Isolated Oxycephaly 24
1535 P ACR093 Acrofrontofacionasal Dysostosis 24
1536 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
1537 c ACR105 Acrofrontofacionasal Dysostosis 2 24
1538 CRN266 Craniofacial Dyssynostosis with Short Stature 24
1539 c CFF011 Coffin-Siris Syndrome 6 24
1540 c NML010 Nemaline Myopathy 7 24
1541 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
1542 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
1543 ISL061 Isolated Brachycephaly 24
1544 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
1545 c SCK029 Seckel Syndrome 7 24
1546 c CNG514 Congenital Radioulnar Synostosis 24
1547 c EHL065 Ehlers-Danlos Syndrome, Type V 24
1548 c FNG009 Feingold Syndrome 2 24
1549 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 24
1550 NVR001 Nievergelt Syndrome 24
1551 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
1552 FBR010 Fibrogenesis Imperfecta Ossium 24
1553 c DKP001 Dk Phocomelia Syndrome 23
1554 P FRM004 Foramen Magnum Meningioma 23
1555 PSD030 Pseudodiastrophic Dysplasia 23
1556 IGG014 Igg4-Related Sclerosing Cholangitis 23
1557 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
1558 PRT043 Parietal Foramina with Cleidocranial Dysplasia 23
1559 TMP008 Tempi Syndrome 23
1560 c JVN019 Juvenile Temporal Arteritis 23
1561 PRP090 Peripheral Dysostosis 23
1562 PLC002 Plica Syndrome 23
1563 c MRG011 Meier-Gorlin Syndrome 4 23
1564 P ACR020 Acropectorovertebral Dysplasia 23
1565 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
1566 OCL030 Oculoauriculofrontonasal Syndrome 23
1567 FBR091 Fibroblastic Rheumatism 23
1568 c MRG009 Meier-Gorlin Syndrome 2 23
1569 c PRM094 Premature Ovarian Failure 5 23
1570 c CFF012 Coffin-Siris Syndrome 7 23
1571 c CFF006 Coffin-Siris Syndrome 5 23
1572 SCH031 Scholte Syndrome 23
1573 GNR023 Generalized Eruptive Histiocytosis 23
1574 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
1575 c SCK037 Seckel Syndrome 9 23
1576 c MLT078 Multiple Synostoses Syndrome 3 23
1577 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 23
1578 INF118 Inflammatory Myopathy with Abundant Macrophages 23
1579 c SCK038 Seckel Syndrome 10 23
1580 c ANM034 Anemia, Sideroblastic, 4 23
1581 c THR096 Three M Syndrome 3 23
1582 HGH021 Hughes-Stovin Syndrome 23
1583 c MRG014 Meier-Gorlin Syndrome 6 23
1584 c PRM090 Premature Ovarian Failure 6 23
1585 c PRT063 Proteus-Like Syndrome 23
1586 INT182 Intermittent Hydrarthrosis 22
1587 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
1588 FMR016 Femur-Fibula-Ulna Syndrome 22
1589 c NNT025 Neonatal Systemic Lupus Erythematosus 22
1590 c TWN010 Townes-Brocks Syndrome 2 22
1591 c OTS005 Otosclerosis 1 22
1592 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
1593 ACR107 Acrofacial Dysostosis, Palagonia Type 22
1594 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
1595 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
1596 c PRM254 Premature Ovarian Failure 11 22
1597 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 22
1598 SYM024 Symphalangism, Distal 22
1599 P PHC014 Phocomelia 22
1600 MDL024 Madelung Deformity 22
1601 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 22
1602 ANG049 Angioedema Induced by Ace Inhibitors 22
1603 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22
1604 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 22
1605 c TRC073 Treacher Collins Syndrome 2 22
1606 ACR101 Acrocraniofacial Dysostosis 22
1607 SPH003 Sphenoorbital Meningioma 22
1608 SWN003 Sweeney-Cox Syndrome 22
1609 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
1610 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1611 c EHL091 Ehlers-Danlos Syndrome Type 7a 22
1612 c MRG012 Meier-Gorlin Syndrome 5 22
1613 P PRM176 Premature Ovarian Failure 2a 22
1614 c TRC071 Treacher Collins Syndrome 3 22
1615 c MCK036 Meckel Syndrome, Type 9 22
1616 P TRC034 Torch Syndrome 22
1617 c SYN088 Synpolydactyly 2 22
1618 TBS009 Teebi-Shaltout Syndrome 22
1619 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 22
1620 c INF072 Inflammatory Bowel Disease 11 21
1621 c SCK033 Seckel Syndrome 8 21
1622 PRG077 Progressive Nodular Histiocytosis 21
1623 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1624 c CLC055 Cole-Carpenter Syndrome 2 21
1625 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1626 c PRM207 Premature Ovarian Failure 10 21
1627 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
1628 INF009 Inflammatory Spondylopathy 21
1629 P CNG539 Congenital Disorder of Glycosylation with Defective Fucosylation 1 21
1630 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 21
1631 RFM002 Roifman-Chitayat Syndrome 21
1632 BRN123 Branchial Arch Syndrome, X-Linked 21
1633 c INF162 Inflammatory Bowel Disease 25 21
1634 P OVR096 Overlap Myositis 21
1635 c NML021 Nemaline Myopathy 9 21
1636 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
1637 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 21
1638 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 21
1639 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 21
1640 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1641 CRN200 Craniosynostosis and Dental Anomalies 21
1642 c INF090 Inflammatory Bowel Disease 7 21
1643 WLD006 Wild Type Abeta2m Amyloidosis 21
1644 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
1645 RDL022 Radial Hemimelia 21
1646 c MCK020 Meckel Syndrome, Type 11 21
1647 c PRM191 Premature Ovarian Failure 9 21
1648 ULN023 Ulnar Hypoplasia 21
1649 c PRV016 Periventricular Nodular Heterotopia 6 21
1650 c EPP026 Epiphyseal Dysplasia, Multiple, 7 21
1651 c CHL114 Chilblain Lupus 2 20
1652 MSL005 Mseleni Joint Disease 20
1653 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
1654 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1655 PLV015 Pelvis-Shoulder Dysplasia 20
1656 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 20
1657 MTC100 Metacarpal 4-5 Fusion 20
1658 CLV012 Clavicle, Pseudarthrosis of, Congenital 20
1659 PTL010 Patella Aplasia-Hypoplasia 20
1660 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
1661 ACR019 Acropectoral Syndrome 20
1662 c SYS040 Systemic Lupus Erythematosus 10 20
1663 SPC002 Specific Bursitis Often of Occupational Origin 20
1664 c XLN227 X-Linked Chondrodysplasia Punctata 1 20
1665 IGG015 Igg4-Related Thyroid Disease 20
1666 MNS012 Monostotic Fibrous Dysplasia 20
1667 AFR001 African Histoplasmosis 20
1668 c SYS038 Systemic Lupus Erythematosus 2 20
1669 c ART060 Arthrogryposis, Distal, Type 1b 20
1670 c GLP007 Geleophysic Dysplasia 3 20
1671 c PRM150 Primary Localized Amyloidosis 20
1672 CNG284 Congenital Pseudoarthrosis of the Tibia 20
1673 ISL084 Isolated Trigonocephaly 19
1674 c PRM253 Premature Ovarian Failure 13 19
1675 c STS009 Sotos Syndrome 3 19
1676 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 19
1677 DYS134 Dysspondyloenchondromatosis 19
1678 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
1679 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1680 c SCK032 Seckel Syndrome 6 19
1681 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1682 SPN349 Spondylometaphyseal Dysplasia, Type A4 19
1683 MSM019 Mesomelic Dysplasia, Savarirayan Type 19
1684 c PRM091 Premature Ovarian Failure 2b 19
1685 c ACR108 Acrocephalopolysyndactyly Type Iv 19
1686 DYS180 Dyschondrosteosis and Nephritis 19
1687 c INF079 Inflammatory Bowel Disease 20 19
1688 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
1689 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 19
1690 KNS006 Kniest-Like Dysplasia, Lethal 19
1691 MTT004 Metatarsus Adductus 19
1692 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 18
1693 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18
1694 c PRM255 Premature Ovarian Failure 12 18
1695 c HYD042 Hydrocephalus, Autosomal Dominant 18
1696 TBL006 Tibial Adamantinoma 18
1697 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1698 c SYM019 Symphalangism, Proximal, 1b 18
1699 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
1700 CTN031 Cutaneous Pseudolymphoma 18
1701 SCL051 Scalp Defects and Postaxial Polydactyly 18
1702 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 18
1703 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
1704 c MRG016 Meier-Gorlin Syndrome 8 18
1705 OTN001 Otoonychoperoneal Syndrome 18
1706 c PSR022 Psoriasis 15, Pustular 18
1707 JNT004 Joint Laxity, Short Stature, and Myopia 18
1708 FMR013 Femoral Agenesis/hypoplasia 18
1709 c MLT166 Multiple Synostoses Syndrome 4 18
1710 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 18
1711 c PLY103 Polydactyly, Postaxial, Type A5 18
1712 CRN224 Craniofaciofrontodigital Syndrome 18
1713 MSM018 Mesomelic Limb Shortening and Bowing 18
1714 HST018 Histiocytosis, Progressive Mucinous 18
1715 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
1716 HMR016 Humeroradioulnar Synostosis 18
1717 IGG013 Igg4-Related Pachymeningitis 18
1718 BRC100 Brachydactyly, Combined B and E Types 18
1719 THR032 Thoracolaryngopelvic Dysplasia 18
1720 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 18
1721 c SCL049 Scoliosis, Isolated 3 17
1722 c CNG336 Congenital Analbuminemia 17
1723 THR033 Thoracomelic Dysplasia 17
1724 IGG009 Igg4-Related Ophthalmic Disease 17
1725 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 17
1726 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
1727 ULN005 Ulna and Fibula, Hypoplasia of 17
1728 c PRM295 Premature Ovarian Failure 15 17
1729 c PLY163 Polydactyly, Postaxial, Type A2 17
1730 c TRN062 Transient Neonatal Myasthenia Gravis 17
1731 TBT001 Tabatznik Syndrome 17
1732 c CFF013 Coffin-Siris Syndrome 8 17
1733 c SX2003 Six2-Related Frontonasal Dysplasia 17
1734 c SYS066 Systemic Polyarteritis Nodosa 17
1735 MMM002 Mammary-Digital-Nail Syndrome 17
1736 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17
1737 c SRC024 Sarcoidosis 3 17
1738 c SYS069 Systemic Lupus Erythematosus 6 17
1739 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 17
1740 PPL038 Papular Xanthoma 17
1741 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1742 LNG102 Long-Thumb Brachydactyly Syndrome 17
1743 CNG529 Congenital Femoral Deficiency 17
1744 c PLY101 Polydactyly, Postaxial, Type A6 17
1745 c SYS053 Systemic Lupus Erythematosus 5 17
1746 c ART156 Arthrogryposis, Distal, Type 2b2 17
1747 c SYS065 Systemic Lupus Erythematosus 11 17
1748 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 17
1749 c ART157 Arthrogryposis, Distal, Type 2b3 16
1750 c AHM002 Ah Amyloidosis 16
1751 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 16
1752 c PLY137 Polydactyly, Preaxial Iii 16
1753 MMB012 Membranous Cranial Ossification, Delayed 16
1754 DYS049 Dysplastic Cortical Hyperostosis 16
1755 c TYP003 Type I Ehlers-Danlos Syndrome 16
1756 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 16
1757 c EXS021 Exostoses, Multiple, Type Iii 16
1758 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
1759 c OTS012 Otosclerosis 10 16
1760 SMM003 Summitt Syndrome 16
1761 c CRN298 Carney Complex, Type 2 16
1762 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
1763 SGR001 Sugarman Brachydactyly 16
1764 c OTS007 Otosclerosis 3 16
1765 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16
1766 c PLY144 Polydactyly, Postaxial, Type A7 16
1767 c PRM292 Premature Ovarian Failure 14 16
1768 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1769 CLD006 Cleidorhizomelic Syndrome 16
1770 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 16
1771 SPN155 Spondylospinal Thoracic Dysostosis 16
1772 c SYS041 Systemic Lupus Erythematosus 9 16
1773 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16
1774 c PLY178 Polydactyly, Postaxial, Type A8 16
1775 c INF073 Inflammatory Bowel Disease 12 16
1776 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1777 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1778 KLL015 Kallmann Syndrome with Spastic Paraplegia 16
1779 TTR016 Tetra-Amelia Syndrome 16
1780 BRC114 Brachyolmia Type 1, Hobaek Type 16
1781 CRN192 Craniorhiny 15
1782 CMP016 Camptobrachydactyly 15
1783 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
1784 IGG011 Igg4-Related Kidney Disease 15
1785 c CNG541 Congenital Disorder of Glycosylation with Defective Fucosylation 2 15
1786 c INF080 Inflammatory Bowel Disease 21 15
1787 ADC008 Adactylia, Unilateral 15
1788 c OTS006 Otosclerosis 2 15
1789 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1790 MGP001 Megaepiphyseal Dwarfism 15
1791 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 15
1792 c SYS046 Systemic Lupus Erythematosus 3 15
1793 c CNT108 Central Polydactyly 15
1794 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 15
1795 SPN120 Spondylocamptodactyly 15
1796 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 15
1797 GNC010 Genochondromatosis 15
1798 LMB003 Lumbosacral Lipoma 15
1799 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 15
1800 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 15
1801 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 15
1802 AML053 Amelia, Autosomal Recessive 15
1803 RDL031 Radial Aplasia, X-Linked 15
1804 c PLY182 Polydactyly, Postaxial, Type A9 15
1805 P ZYG003 Zygodactyly 1 15
1806 c INF091 Inflammatory Bowel Disease 8 15
1807 HYP497 Hyperphalangy 15
1808 PLY132 Polysyndactyly, Crossed 15
1809 c OTS010 Otosclerosis 7 15
1810 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1811 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1812 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 15
1813 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1814 TTR010 Tetramelic Monodactyly 15
1815 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1816 c DVL011 Developmental Dysplasia of the Hip 2 14
1817 HRR003 Herrmann Opitz Craniosynostosis 14
1818 c INF161 Inflammatory Bowel Disease 28 14
1819 c EHL088 Ehlers-Danlos Syndrome Type 2 14
1820 ECT086 Ectrodactyly-Polydactyly 14
1821 c OTS011 Otosclerosis 8 14
1822 c SYS055 Systemic Lupus Erythematosus 12 14
1823 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
1824 P HRD209 Hereditary Angioedema with Normal C1inh 14
1825 DPH002 Diaphragma Sellae Meningioma 14
1826 CNS012 Cono-Spondylar Dysplasia 14
1827 INT058 Intraorbital Meningioma 14
1828 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 14
1829 CHN047 Chondroectodermal Dysplasia with Night Blindness 14
1830 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 14
1831 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1832 c INF076 Inflammatory Bowel Disease 18 14
1833 c OTS008 Otosclerosis 4 14
1834 CHN027 Chondrodysplasia Lethal Recessive 14
1835 HLL014 Hallux Varus and Preaxial Polysyndactyly 14
1836 PST104 Postaxial Oligodactyly, Tetramelic 14
1837 c SYS051 Systemic Lupus Erythematosus 4 14
1838 c SYS047 Systemic Lupus Erythematosus 7 14
1839 c PSD023 Pseudo-Gaucher Disease 14
1840 WHB001 Wahab Syndrome 14
1841 c SYN040 Synpolydactyly 3 14
1842 c MTP014 Metaphyseal Anadysplasia 2 14
1843 AST010 Astley-Kendall Syndrome 14
1844 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 14
1845 LRS009 Larsen-Like Syndrome, Lethal Type 14
1846 CLV003 Clivus Meningioma 14
1847 c PLY054 Polydactyly, Postaxial, Type A4 13
1848 c PLY053 Polydactyly, Postaxial, Type A3 13
1849 c PRV013 Periventricular Nodular Heterotopia 3 13
1850 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
1851 CXR001 Coxoauricular Syndrome 13
1852 APV001 Aapoaiv Amyloidosis 13
1853 CND008 Condensing Osteitis of the Clavicle 13
1854 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
1855 c INF083 Inflammatory Bowel Disease 24 13
1856 c INF084 Inflammatory Bowel Disease 26 13
1857 c INF082 Inflammatory Bowel Disease 23 13
1858 c INF085 Inflammatory Bowel Disease 27 13
1859 c INF074 Inflammatory Bowel Disease 15 13
1860 c INF081 Inflammatory Bowel Disease 22 13
1861 BCP001 Bicipital Tenosynovitis 13
1862 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
1863 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
1864 c ACR046 Acropectorovertebral Dysplasia F Form 13
1865 ACR027 Acrodysplasia Scoliosis 13
1866 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 13
1867 TRM018 Traumatic Avascular Necrosis 13
1868 ACH028 Acheiria 13
1869 c OTS009 Otosclerosis 5 13
1870 TRC112 Trochlea of the Humerus, Aplasia of 13
1871 HND012 Handigodu Joint Disease 13
1872 TRP023 Triphalangeal Thumbs and Dislocation of Patella 12
1873 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 12
1874 c HLL012 Hallermann-Streiff-Like Syndrome 12
1875 c ACQ036 Acquired Angioedema Type 2 12
1876 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1877 c SYS048 Systemic Lupus Erythematosus 8 12
1878 c SYS067 Systemic Lupus Erythematosus 15 12
1879 c SCL058 Scoliosis, Isolated 2 12
1880 c SYS052 Systemic Lupus Erythematosus 13 12
1881 c SYS045 Systemic Lupus Erythematosus 14 12
1882 VRN007 Variant Abeta2m Amyloidosis 12
1883 CRN204 Craniofacial Conodysplasia 12
1884 c PRM222 Primary Polyarteritis Nodosa 12
1885 ISC019 Ischiovertebral Syndrome 12
1886 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
1887 c B3G001 B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome 12
1888 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12
1889 IGG010 Igg4-Related Aortitis 12
1890 c INF052 Infantile Scoliosis 12
1891 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
1892 IDP040 Idiopathic Eosinophilic Myositis 12
1893 SYM014 Symbrachydactyly of Hands and Feet 11
1894 FBR007 Fibroosseous Pseudotumor of Digits 11
1895 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
1896 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
1897 CRN087 Craniomicromelic Syndrome 11
1898 c ANT021 Anterior Foramen Magnum Meningioma 11
1899 BST002 Baastrup's Syndrome 11
1900 PRM233 Primary Cutaneous Plasmacytosis 11
1901 c GM2001 Gm2 Gangliosidosis, 0 Variant 11
1902 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 11
1903 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
1904 CLV001 Clivus Chondroid Chordoma 11
1905 ULN014 Ulnar Hemimelia 10
1906 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 10
1907 PTT005 Pituitary Stalk Meningioma 10
1908 c SYN050 Syndactyly Type 6 10
1909 c SCL059 Scoliosis, Isolated 4 10
1910 c SCL060 Scoliosis, Isolated 5 10
1911 9Q3002 9q33.3q34.11 Microdeletion Syndrome 10
1912 ORB001 Orbit Alveolar Rhabdomyosarcoma 10
1913 HMR042 Humero-Ulnar Synostosis 10
1914 ALC030 Alect2 Amyloidosis 10
1915 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1916 GLS016 Glossopalatine Ankylosis 10
1917 HRD208 Hereditary Angioedema with C1inh Deficiency 10
1918 c EHL090 Ehlers-Danlos Syndrome Type 7b 10
1919 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1920 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 10
1921 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1922 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1923 CNG277 Congenital Pseudoarthrosis of the Fibula 9
1924 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
1925 SCR036 Sacrum Chordoma 9
1926 P RBN007 Rubinstein Taybi Like Syndrome 9
1927 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1928 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1929 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1930 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
1931 c ZYG007 Zygodactyly Type 3 9
1932 SMP006 Simple Cryoglobulinemia 8
1933 c ACQ035 Acquired Angioedema Type 1 8
1934 BHC001 Behcet's Syndrome Arthropathy 8
1935 DBR003 Dobrow Syndrome 8
1936 CNG283 Congenital Pseudoarthrosis of the Femur 8
1937 BNL004 Benallegue Lacete Syndrome 8
1938 VRL016 Verloove Vanhorick Brubakk Syndrome 8
1939 AML037 Amelia of Upper Limb 8
1940 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1941 PRN048 Prenatal Benign Hypophosphatasia 8
1942 CNG278 Congenital Pseudoarthrosis of the Radius 8
1943 c ALP056 Alpha-Mannosidosis, Adult Form 8
1944 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1945 MLH001 Melhem Fahl Syndrome 8
1946 c ZYG006 Zygodactyly Type 2 8
1947 LWR003 Lower Clivus Meningioma 8
1948 APD003 Apodia 8
1949 c SCN055 Secondary Polyarteritis Nodosa 8
1950 c PST023 Posterior Foramen Magnum Meningioma 8
1951 c CRB078 Cerebrocostomandibular-Like Syndrome 8
1952 CLC050 Calciphylaxis Cutis 8
1953 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1954 c PRD018 Periodontitis, Aggressive, 2 8
1955 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
1956 BPR001 Bipartite Talus 7
1957 c CNG348 Congenital Sialidosis Type 2 7
1958 c TRN008 Transient Arthropathy 7
1959 P JVN036 Juvenile Sialidosis Type 2 7
1960 SPH002 Sphenocavernous Meningioma 7
1961 c JVN030 Juvenile Overlap Myositis 7
1962 TBF001 Tibio-Fibular Synostosis 7
1963 SNG013 Single-Organ Polyarteritis Nodosa 7
1964 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 7
1965 UPP001 Upper Clivus Meningioma 7
1966 HMR031 Humeral Agenesis/hypoplasia 7
1967 HYP500 Hyperphalangy, Unilateral 7
1968 c CRN093 Craniosynostosis Autosomal Dominant 7
1969 RNN007 Reunion Island Larsen-Like Syndrome 7
1970 c ZYG005 Zygodactyly Type 4 7
1971 ACR100 Acrofacial Dysostosis, Patagonia Type 6
1972 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1973 CNG289 Congenital Absence/hypoplasia of Thumb 6
1974 PHL011 Phalanx Chondroma 6
1975 HYP501 Hyperphalangy, Bilateral 6
1976 CNG287 Congenital Absence of Both Forearm and Hand 6
1977 c MLT004 Multiple Skull Base Meningioma 6
1978 c OTS004 Otosclerosis, Familial 6
1979 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1980 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1981 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1982 NNT045 Neonatal Autoimmune Hemolytic Anemia 6
1983 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1984 HYP010 Hypermobility of Coccyx 6
1985 c OCL037 Oculodentodigital Dysplasia Dominant 6
1986 c HYD017 Hydrocephalus Autosomal Recessive 6
1987 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1988 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1989 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1990 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1991 ISL026 Isolated Sternocostoclavicular Hyperostosis 6
1992 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1993 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1994 ACQ052 Acquired Angioedema with C1inh Deficiency 6
1995 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1996 P SYC001 Say Carpenter Syndrome 5
1997 UNS002 Unspecified Juvenile Idiopathic Arthritis 5
1998 MDL017 Madelung Deformity, Bilateral 5
1999 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
2000 c ANG069 Angpt1-Related Hereditary Angioedema with Normal C1inh 5
2001 CHR512 Cheirospondyloenchondromatosis 5
2002 DYS128 Dysplasia of Head of Femur, Meyer Type 5
2003 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
2004 MDL018 Madelung Deformity, Unilateral 5
2005 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
2006 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
2007 CNG391 Congenital Pseudoarthrosis of the Limbs 5
2008 c PLG011 Plg-Related Hereditary Angioedema with Normal C1inh 5
2009 GNC002 Gonococcal Bursitis 5
2010 AML036 Amelia of Lower Limb 5
2011 P LGB001 Leg Absence Deformity Cataract 4
2012 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
2013 SCN050 Secondary Non-Traumatic Avascular Necrosis 4
2014 GNC006 Gonococcal Spondylitis 4
2015 LM5001 Lama5-Related Multisystemic Syndrome 4
2016 TNS002 Tenosynovitis of Foot and Ankle 4
2017 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
2018 VSC036 Visceral Calciphylaxis 4
2019 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
2020 MDF001 Midface Dysplasia 3
2021 c CXV001 Coxa Vara, Congenital 3
2022 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 3
2023 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
2024 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 23
2025 CRD221 Cardiospondylocarpofacial Syndrome 38
2026 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59
2027 BKS003 Beukes Hip Dysplasia 30
2028 OST141 Osteoclastic Giant Cell Tumor of Pancreas 16
2029 THM023 Thiemann Disease 21
2030 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 32
2031 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 23
2032 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
2033 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 25
2034 OST150 Osteodysplasia, Familial, Anderson Type 17
2035 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 18
2036 P DNT011 Dentinogenesis Imperfecta 46
2037 THR009 Thrombocytopenia-Absent Radius Syndrome 45
2038 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
2039 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
2040 CRP001 Carpal Tunnel Syndrome 71
2041 RCK004 Rickets 66
2042 P HRD021 Hereditary Sensory Neuropathy 50
2043 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 43
2044