Bone Diseases Category (2777 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 47
2 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 46
3 OST012 Osteoarthritis 81
4 P PGT001 Paget's Disease of Bone 62
5 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 43
6 c HRD104 Hereditary Multiple Osteochondromas 41
7 P OST002 Osteoporosis 74
8 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 41
9 BRT054 Brittle Bone Disorder 71
10 P OST001 Osteopetrosis 63
11 c OST163 Osteopetrosis, Autosomal Recessive 3 51
12 c OST126 Osteopetrosis, Autosomal Recessive 1 38
13 c OST120 Osteopetrosis, Autosomal Recessive 5 26
14 CHR288 Chronic Recurrent Multifocal Osteomyelitis 57
15 P BNC003 Bone Cancer 61
16 P OST080 Osteogenesis Imperfecta, Type Ii 59
17 FML345 Familial Expansile Osteolysis 45
18 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 31
19 GRC002 Gracile Bone Dysplasia 29
20 c OST131 Osteopetrosis, Autosomal Dominant 2 53
21 OST159 Osteogenic Sarcoma 67
22 P RHM011 Rheumatoid Arthritis 82
23 CRT002 Cartilage-Hair Hypoplasia 58
24 WRT006 Worth Type Autosomal Dominant Osteosclerosis 11
25 c OST135 Osteogenesis Imperfecta, Type I 57
26 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 55
27 c OST129 Osteopetrosis, Autosomal Recessive 2 46
28 c OST136 Osteopetrosis, Autosomal Recessive 7 43
29 c OST134 Osteopetrosis, Autosomal Recessive 6 31
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 40
34 c FML169 Familial Osteochondritis Dissecans 31
35 c JVN010 Juvenile Rheumatoid Arthritis 72
36 c OST119 Osteogenesis Imperfecta, Type Vii 48
37 ALB001 Albright's Hereditary Osteodystrophy 55
38 OST044 Osteoglophonic Dysplasia 53
39 BSC001 Buschke-Ollendorff Syndrome 49
40 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 41
41 c OST137 Osteopetrosis, Autosomal Recessive 4 26
42 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 30
43 KHL001 Kohler's Disease 19
44 LGG001 Legg-Calve-Perthes Disease 62
45 BNG036 Bone Giant Cell Tumor 51
46 BNW001 Bone Ewing's Sarcoma 48
47 HJD001 Hajdu-Cheney Syndrome 62
48 ONC003 Oncogenic Osteomalacia 46
49 BNT003 Bent Bone Dysplasia Syndrome 41
50 TRC039 Tracheobronchopathia Osteoplastica 18
51 CRT017 Cartilage Disease 52
52 c OST125 Osteopetrosis, Autosomal Dominant 1 26
53 GRD006 Geroderma Osteodysplastica 26
54 c OST121 Osteogenesis Imperfecta, Type Iv 50
55 c OST132 Osteogenesis Imperfecta, Type Vi 43
56 RNS001 Raine Syndrome 48
57 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 28
58 c PRM243 Primary Bone Cancer 20
59 c JVN025 Juvenile Primary Osteoporosis 14
60 OST003 Osteonecrosis 67
61 ENC044 Enchondromatosis, Multiple, Ollier Type 53
62 CRP009 Carpotarsal Osteochondromatosis 9
63 BND020 Bone Disease 65
64 OST016 Osteochondrosis 56
65 END081 Endosteal Hyperostosis, Autosomal Dominant 54
66 OSG001 Osgood-Schlatter's Disease 40
67 AXL003 Axial Osteomalacia 33
68 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 23
69 OST022 Osteopathia Striata with Cranial Sclerosis 46
70 SCH072 Scheuermann Disease 41
71 MJD001 Majeed Syndrome 34
72 MLT033 Multicentric Osteolysis Nephropathy 9
73 P NGT001 Negative Rheumatoid Factor Polyarthritis 7
74 BNM001 Bone Marrow Cancer 60
75 P CNT056 Cantu Syndrome 50
76 ANR009 Aneurysmal Bone Cysts 48
77 c EXS019 Exostoses, Multiple, Type I 48
78 OST014 Osteopoikilosis 40
79 CYS041 Cystic Angiomatosis of Bone, Diffuse 31
80 c OST130 Osteogenesis Imperfecta, Type Ix 31
81 c OST128 Osteogenesis Imperfecta, Type Xii 28
82 MLR010 Melorheostosis with Osteopoikilosis 24
83 DNT050 Dentin Dysplasia with Sclerotic Bones 14
84 c CNT094 Cantú Syndrome and Related Disorders 5
85 P OST009 Osteochondritis Dissecans 59
86 OST032 Osteofibrous Dysplasia 52
87 c OST124 Osteogenesis Imperfecta, Type V 49
88 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 33
89 c OST118 Osteogenesis Imperfecta, Type Viii 44
90 BNS001 Bone Osteosarcoma 40
91 KNB002 Kienbock's Disease 30
92 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 29
93 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 27
94 P BNM015 Bone Mineral Density Quantitative Trait Locus 18 25
95 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 22
96 NVC001 Navicular Bone, Accessory 19
97 c OST110 Osteogenesis Imperfecta, Type Xv 37
98 c OST127 Osteogenesis Imperfecta, Type X 33
99 c OST133 Osteogenesis Imperfecta, Type Xi 32
100 c OST139 Osteogenesis Imperfecta, Type Xvi 26
101 c OST123 Osteogenesis Imperfecta, Type Xiii 26
102 c OST109 Osteogenesis Imperfecta, Type Xiv 23
103 PCM001 Pacman Dysplasia 22
104 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 16
105 OSS012 Osseous Heteroplasia, Progressive 58
106 c PSD108 Pseudohypoparathyroidism, Type Ia 57
107 P CHN012 Chondrosarcoma 57
108 P PSD015 Pseudohypoparathyroidism 51
109 GNT026 Gnathodiaphyseal Dysplasia 37
110 CDS002 Codas Syndrome 32
111 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
112 c LCL005 Localized Chondrosarcoma 8
113 RNL011 Renal Osteodystrophy 49
114 MLN014 Melnick-Needles Syndrome 40
115 GRD005 Geroderma Osteodysplasticum 31
116 c OST138 Osteogenesis Imperfecta, Type Xvii 23
117 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
118 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 22
119 OSL001 Oslam Syndrome 20
120 OST149 Osteolysis Syndrome, Recessive 19
121 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18
122 FRN047 Frontonasal Dysplasia with Alar Clefts 17
123 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
124 ALT005 Aloi Tomasini Isaia Syndrome 8
125 OST013 Osteosarcoma Arising in Bone Paget's Disease 7
126 DST005 Diastrophic Dysplasia 53
127 CHN054 Chondrodysplasia, Blomstrand Type 45
128 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 31
129 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
130 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 53
131 KTL001 Keutel Syndrome 39
132 BMR001 Boomerang Dysplasia 36
133 c KNN007 Kenny-Caffey Syndrome, Type 2 30
134 c BNM010 Bone Marrow Failure Syndrome 1 26
135 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 25
136 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
137 OST117 Osteomesopyknosis 21
138 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 15
139 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 14
140 KNS001 Kniest Dysplasia 53
141 c SCN005 Secondary Hypertrophic Osteoarthropathy 43
142 c PGT007 Paget Disease of Bone 3 40
143 JXT003 Juxtacortical Osteosarcoma 39
144 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 39
145 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 37
146 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 37
147 SLT009 Solitary Bone Cyst 36
148 P INH011 Inherited Bone Marrow Failure Syndromes 34
149 PRP024 Peripheral Osteosarcoma 32
150 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 31
151 c PGT009 Paget Disease of Bone 2, Early-Onset 26
152 CNV007 Conventional Central Osteosarcoma 26
153 SML003 Small Cell Osteogenic Sarcoma 24
154 c OST106 Osteopetrosis, Autosomal Recessive 8 23
155 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 17
156 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16
157 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
158 OST034 Osteogenesis Imperfecta Levin Type 9
159 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
160 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
161 LRY012 Laryngeal Cartilage Cancer 8
162 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 6
163 INF051 Infantile Recurrent Chronic Multifocal Osteomyolitis 3
164 ACH004 Achondroplasia 69
165 OST017 Osteomyelitis 65
166 OST011 Osteomalacia 52
167 EXS001 Exostosis 47
168 OST004 Osteitis Fibrosa 44
169 P CLC057 Cole-Carpenter Syndrome 37
170 OST062 Osteoarthritis with Mild Chondrodysplasia 30
171 TRC115 Tracheopathia Osteoplastica 28
172 EKN001 Eiken Syndrome 22
173 c BNM011 Bone Marrow Failure Syndrome 2 21
174 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 21
175 c PGT011 Paget Disease of Bone 6 21
176 SHR027 Short Stature Wormian Bones Dextrocardia 12
177 BNN003 Bone Inflammation Disease 47
178 SKL017 Skeletal Dysplasias 46
179 GLC086 Glucocorticoid-Induced Osteoporosis 46
180 MRS004 Marshall-Smith Syndrome 41
181 P ACH011 Achondrogenesis 41
182 P BNL002 Bone Lymphoma 32
183 SKL001 Skeletal Tuberculosis 30
184 HMM004 Hamamy Syndrome 25
185 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 24
186 SLW006 Saul-Wilson Syndrome 24
187 c OST169 Osteogenesis Imperfecta, Type Xviii 23
188 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 21
189 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 21
190 BND017 Bone Dysplasia, Lethal, Holmgren Type 21
191 BRS030 Breast Osteosarcoma 20
192 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 17
193 OST047 Osteopenia and Sparse Hair 17
194 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 17
195 OST058 Osteopoikilosis and Dacryocystitis 17
196 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 15
197 KDN010 Kidney Osteogenic Sarcoma 13
198 CHS003 Chest Wall Bone Cancer 9
199 ADM013 Adamantinoma of Long Bones 64
200 BNR002 Bone Resorption Disease 54
201 P OST028 Osteochondroma 53
202 c BNM029 Bone Mineral Density Quantitative Trait Locus 15 46
203 P BRC015 Bruck Syndrome 44
204 PRS029 Periosteal Osteogenic Sarcoma 42
205 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 40
206 FBR013 Fibrosarcomatous Osteosarcoma 38
207 P EXT032 Extraosseous Osteosarcoma 37
208 DYS013 Dysbaric Osteonecrosis 36
209 SKL003 Skeletal Muscle Cancer 34
210 CHP002 Chops Syndrome 32
211 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 31
212 BNP002 Bone Epithelioid Hemangioma 26
213 HGH023 High Bone Mass Osteogenesis Imperfecta 26
214 BNG005 Bone Giant Cell Sarcoma 25
215 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
216 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
217 c OST170 Osteogenesis Imperfecta, Type Xix 20
218 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 17
219 PYK001 Pyknoachondrogenesis 16
220 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 15
221 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
222 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 15
223 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 15
224 c ADL034 Adult Extraosseous Osteosarcoma 13
225 OST172 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 13
226 PLY028 Polycystic Bone Disease 13
227 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 13
228 BWN005 Bowing of Long Bones Congenital 12
229 CHL007 Childhood Extraosseous Osteosarcoma 9
230 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 9
231 HPT017 Hepatic Osteogenic Sarcoma 9
232 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 8
233 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 8
234 MDS009 Mediastinal Osteogenic Sarcoma 8
235 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
236 HYP068 Hyperostosis 52
237 BNF002 Bone Fracture 50
238 ACR002 Acrocapitofemoral Dysplasia 40
239 OPS002 Opsismodysplasia 38
240 CZC002 Czech Dysplasia 30
241 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 20
242 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 8
243 HYP042 Hypochondroplasia 59
244 FBR009 Fibrous Dysplasia 49
245 GRN034 Grange Syndrome 47
246 OST006 Osteoblastoma 40
247 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 36
248 c DNT025 Dentinogenesis Imperfecta 1 35
249 CHR543 Chromosome 2q37 Deletion Syndrome 35
250 AKL001 Au-Kline Syndrome 31
251 c EXS020 Exostoses, Multiple, Type Ii 29
252 P LTH003 Lethal Congenital Contracture Syndrome 29
253 c LTH027 Lethal Congenital Contracture Syndrome 5 26
254 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
255 c LTH042 Lethal Congenital Contracture Syndrome 10 24
256 c LTH031 Lethal Congenital Contracture Syndrome 6 23
257 STR088 Stratton-Parker Syndrome 23
258 c LTH047 Lethal Congenital Contracture Syndrome 3 23
259 c LTH039 Lethal Congenital Contracture Syndrome 11 23
260 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 22
261 c LTH030 Lethal Congenital Contracture Syndrome 8 22
262 c LTH029 Lethal Congenital Contracture Syndrome 9 22
263 c LTH032 Lethal Congenital Contracture Syndrome 7 21
264 c ERL004 Early Yaws 20
265 c OST171 Osteopetrosis, Autosomal Dominant 3 20
266 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 20
267 c LTY001 Late Yaws 19
268 c LTH026 Lethal Congenital Contracture Syndrome 4 18
269 c BNM032 Bone Marrow Failure Syndrome 4 18
270 PNN003 Panner Disease 16
271 c DNT048 Dentinogenesis Imperfecta Type 3 12
272 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 11
273 LNG027 Long Bones of Lower Limb Cancer 8
274 P FNC027 Fanconi Anemia, Complementation Group a 81
275 P LYS001 Loeys-Dietz Syndrome 62
276 c LYS019 Loeys-Dietz Syndrome 1 54
277 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 49
278 c LYS017 Loeys-Dietz Syndrome 4 47
279 c ATS282 Autosomal Recessive Malignant Osteopetrosis 47
280 MLR003 Melorheostosis 47
281 TLN002 Telangiectatic Osteogenic Sarcoma 45
282 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 43
283 c FNC058 Fanconi Anemia, Complementation Group R 43
284 c LYS018 Loeys-Dietz Syndrome 2 42
285 c FNC057 Fanconi Anemia, Complementation Group U 42
286 c FNC056 Fanconi Anemia, Complementation Group V 41
287 MLG014 Malignant Fibrous Histiocytoma of Bone 41
288 c FNC046 Fanconi Anemia, Complementation Group P 39
289 OST097 Osteoporotic Fracture 36
290 c FNC062 Fanconi Anemia, Complementation Group S 35
291 CHN003 Chondroblastic Osteosarcoma 35
292 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34
293 PDT021 Pediatric Osteosarcoma 34
294 SKL002 Skeletal Muscle Neoplasm 33
295 FBR002 Fibrosarcoma of Bone 32
296 BNR001 Bone Remodeling Disease 31
297 LCL004 Localized Osteosarcoma 28
298 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27
299 c CLC056 Cole-Carpenter Syndrome 1 22
300 c BNM013 Bone Marrow Failure Syndrome 3 22
301 c FNC061 Fanconi Anemia, Complementation Group W 22
302 c PRM151 Primary Bone Lymphoma 20
303 c PGT006 Paget Disease of Bone 4 19
304 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
305 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19
306 P MLT017 Multifocal Osteogenic Sarcoma 18
307 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 18
308 BMR004 Beemer Lethal Malformation Syndrome 18
309 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
310 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
311 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
312 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 15
313 LPS001 Liposarcoma of Bone 14
314 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 14
315 INT073 Intracortical Osteogenic Sarcoma 14
316 SYN002 Synchronous Multifocal Osteogenic Sarcoma 13
317 CNG530 Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome 12
318 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
319 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 11
320 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 11
321 OST156 Osteosclerosis with Ichthyosis and Fractures 10
322 DST098 Distal Osteosclerosis 10
323 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 10
324 BNN002 Bone Angioendothelial Sarcoma 10
325 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 8
326 CHL041 Childhood Intracortical Osteosarcoma 7
327 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 6
328 CHL001 Childhood Parosteal Osteogenic Sarcoma 6
329 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 6
330 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
331 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
332 MTC001 Metachronous Osteosarcoma of the Bone 5
333 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
334 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 5
335 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
336 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
337 HYD022 Hydrocephalus Skeletal Anomalies 3
338 BRT025 Brittle Bone Syndrome Lethal Type 3
339 CTR016 Cataract Skeletal Anomalies 3
340 DWR010 Dwarfism Thin Bones Multiple Fractures 3
341 OCL029 Oculo Skeletal Renal Syndrome 3
342 c PST038 Positive Rheumatoid Factor Polyarthritis 2
343 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 2
344 CRN080 Craniofacial and Skeletal Defects 2
345 CTS007 Cutis Laxa Osteoporosis 2
346 CRP008 Carpo Tarsal Osteolysis Recessive 2
347 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 2
348 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 2
349 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 63
350 P INF049 Infantile Myofibromatosis 50
351 P HRD001 Hereditary Multiple Exostoses 45
352 c ACH033 Achondrogenesis, Type Ia 45
353 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
354 CHN004 Chondroblastoma 41
355 c MYF007 Myofibromatosis, Infantile, 1 39
356 OST115 Osteonecrosis of the Jaw 38
357 END059 Endocrine-Cerebroosteodysplasia 35
358 P BRC003 Brachyolmia 31
359 OST160 Osteoid Osteoma 31
360 BND014 Bone Development Disease 30
361 DYS045 Dysosteosclerosis 29
362 CPL004 Caplan's Syndrome 29
363 BNS002 Bone Structure Disease 26
364 c FBR029 Fibrochondrogenesis 1 22
365 PTR001 Petrositis 22
366 OST168 Osteosclerotic Metaphyseal Dysplasia 21
367 c BRC053 Brachyolmia Type 2 20
368 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 20
369 SHR114 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 19
370 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
371 c HYP831 Hyperparathyroidism, Transient Neonatal 17
372 c BNM033 Bone Marrow Failure Syndrome 5 16
373 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 12
374 CHR633 Choroidal Osteoma, Bilateral 11
375 P ART022 Arthritis 78
376 CNN005 Connective Tissue Disease 67
377 P HMC002 Homocystinuria 51
378 HYP017 Hypophosphatemia 48
379 c RBN017 Robinow Syndrome, Autosomal Dominant 2 46
380 P OSS001 Ossifying Fibroma 45
381 P FRN012 Frontometaphyseal Dysplasia 45
382 c ATS082 Autosomal Dominant Robinow Syndrome 45
383 c RBN018 Robinow Syndrome, Autosomal Dominant 1 42
384 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 42
385 PTL009 Patella, Chondromalacia of 41
386 MCP033 Mucopolysaccharidoses 40
387 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
388 HYP041 Hypochondrogenesis 39
389 CRN049 Craniolenticulosutural Dysplasia 39
390 c RBN020 Robinow Syndrome, Autosomal Dominant 3 37
391 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 36
392 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 35
393 RHM013 Rheumatoid Nodulosis 35
394 c TRN014 Transient Arthritis 32
395 BNS004 Bone Squamous Cell Carcinoma 32
396 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 31
397 HYP674 Hyperostosis Cranialis Interna 31
398 ISC005 Ischemic Bone Disease 30
399 c FRN048 Frontometaphyseal Dysplasia 2 29
400 CHN070 Cohen-Gibson Syndrome 29
401 c CRB100 Cerebrooculofacioskeletal Syndrome 4 28
402 BND004 Bone Deterioration Disease 28
403 c CRB098 Cerebrooculofacioskeletal Syndrome 2 27
404 c SNG011 Singleton-Merten Syndrome 1 26
405 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 25
406 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
407 CRN272 Craniometadiaphyseal Dysplasia 22
408 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22
409 SPC025 Specific Granule Deficiency 2 22
410 BNC005 Bone Chondrosarcoma 21
411 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
412 BNB001 Bone Benign Neoplasm 20
413 c FBR030 Fibrochondrogenesis 2 19
414 c JVN045 Juvenile Ossifying Fibroma 17
415 c RR2001 Ror2-Related Robinow Syndrome 12
416 ORB004 Orbital Osteomyelitis 11
417 SND010 Sinding-Larsen-Johansson Disease 9
418 SHR119 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 7
419 BNM012 Bone Ameloblastoma 6
420 c HMC017 Homocystinuria Due to Defect in Methylation Cbl E 3
421 c HMC018 Homocystinuria Due to Defect in Methylation Cbl G 3
422 P DMN001 Diamond-Blackfan Anemia 71
423 P DYS007 Dyskeratosis Congenita 67
424 P SYP003 Syphilis 58
425 P MSC003 Muscular Atrophy 56
426 c BRC078 Brachydactyly, Type A1 54
427 c DMN023 Diamond-Blackfan Anemia 1 53
428 c HYP293 Hypophosphatasia, Adult 53
429 AGN012 Agnathia-Otocephaly Complex 53
430 c HYP292 Hypophosphatasia, Infantile 51
431 P BRC006 Brachydactyly 50
432 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
433 c ACH042 Achondrogenesis, Type Ib 47
434 c RBN009 Robinow Syndrome, Autosomal Recessive 47
435 P HRD086 Hereditary Hypophosphatemic Rickets 45
436 c BRC060 Brachydactyly, Type E2 44
437 c PRM022 Primary Syphilis 44
438 ASP005 Asphyxiating Thoracic Dystrophy 44
439 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 43
440 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 43
441 c PRG001 Progressive Muscular Atrophy 42
442 KSH004 Kashin-Beck Disease 42
443 TRN004 Trench Fever 42
444 c BRC052 Brachydactyly, Type B2 42
445 FCL041 Focal Myositis 41
446 c SCL042 Sclerosteosis 2 41
447 c BRC062 Brachydactyly, Type D 41
448 c CNG033 Congenital Syphilis 41
449 SLT001 Solitary Osseous Plasmacytoma 40
450 c SCN006 Secondary Syphilis 39
451 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
452 P PRT042 Parietal Foramina 38
453 GNT001 Giant Cell Reparative Granuloma 38
454 P ACR062 Acroosteolysis 38
455 c MYT029 Myotonia Congenita, Autosomal Recessive 38
456 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 37
457 EST007 Estrogen Resistance 37
458 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
459 OST008 Osteosclerotic Myeloma 36
460 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
461 c SCL045 Sclerosteosis 1 34
462 c DMN021 Diamond-Blackfan Anemia 6 33
463 WDW001 Widow's Peak 31
464 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
465 RHM008 Rheumatic Myocarditis 30
466 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
467 c PRT059 Parietal Foramina 1 29
468 ACR095 Acrofacial Dysostosis, Cincinnati Type 29
469 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
470 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
471 c FRN049 Frontometaphyseal Dysplasia 1 28
472 c SMT018 Smith-Mccort Dysplasia 2 27
473 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
474 HYP754 Hypophosphatemic Bone Disease 26
475 c BRC099 Brachydactyly, Type A4 26
476 c DMN017 Diamond-Blackfan Anemia 10 26
477 c PRT060 Parietal Foramina 2 26
478 c LTC001 Late Congenital Syphilis 25
479 LBN004 Liebenberg Syndrome 25
480 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
481 c DMN022 Diamond-Blackfan Anemia 9 25
482 c DMN040 Diamond-Blackfan Anemia 16 24
483 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 24
484 TRS030 Tarsal Coalition 24
485 ELS005 Elastoma 24
486 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 24
487 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 24
488 c DMN019 Diamond-Blackfan Anemia 4 23
489 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
490 c BRC080 Brachydactyly, Type A1, B 23
491 c DMN024 Diamond-Blackfan Anemia 7 23
492 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
493 c DMN018 Diamond-Blackfan Anemia 5 23
494 c BRC108 Brachydactyly, Type A3 23
495 c BRC075 Brachydactyly, Type A1, C 22
496 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 22
497 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 22
498 c DMN029 Diamond-Blackfan Anemia 11 22
499 c DMN006 Diamond-Blackfan Anemia 3 22
500 c DMN005 Diamond-Blackfan Anemia 2 22
501 c ERL002 Early Congenital Syphilis 21
502 c DMN020 Diamond-Blackfan Anemia 8 21
503 c BRC105 Brachydactyly, Type A1, D 21
504 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
505 c DMN028 Diamond-Blackfan Anemia 12 20
506 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 20
507 ACH002 Achilles Bursitis 20
508 MZB001 Mazabraud Syndrome 19
509 c BRC035 Brachydactyly Type A5 19
510 KNN010 Kennerknecht Syndrome 19
511 c DMN039 Diamond-Blackfan Anemia 17 19
512 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
513 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
514 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
515 P GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 19
516 HDZ001 Hadziselimovic Syndrome 18
517 c DMN030 Diamond-Blackfan Anemia 13 18
518 c SNG012 Singleton-Merten Syndrome 2 18
519 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
520 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 18
521 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 18
522 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 18
523 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
524 VLF001 Velofacioskeletal Syndrome 17
525 c SPN121 Spondylocostal Dysostosis 1 17
526 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
527 IDP069 Idiopathic Avascular Necrosis 17
528 c MYF010 Myofibromatosis, Infantile, 2 17
529 c PRT113 Parietal Foramina 3 16
530 P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 16
531 c DMN045 Diamond-Blackfan Anemia-Like 16
532 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
533 c BLN020 Blount Disease, Infantile 15
534 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 14
535 OST173 Osteoradionecrosis of the Mandible 14
536 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
537 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 14
538 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 14
539 c DMN047 Diamond-Blackfan Anemia 18 14
540 CLB032 Coloboma of Macula and Skeletal Anomalies 14
541 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 14
542 PHL009 Phalangeal Microgeodic Syndrome 14
543 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
544 BLN021 Blount Disease, Adolescent 13
545 EPM003 Epimetaphyseal Skeletal Dysplasia 13
546 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12
547 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 12
548 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 12
549 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
550 c DMN049 Diamond-Blackfan Anemia 20 12
551 ISL032 Isolated Bone Marrow Mastocytosis 12
552 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
553 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
554 THN012 Thanatophoric Dysplasia, Glasgow Variant 11
555 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 11
556 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 11
557 c BRC037 Brachydactyly Type A7 11
558 BNL001 Bone Leiomyosarcoma 10
559 c SPN122 Spondylocostal Dysostosis 2 10
560 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
561 c SPN123 Spondylocostal Dysostosis 3 10
562 c SPN124 Spondylocostal Dysostosis 4 10
563 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 10
564 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 10
565 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 10
566 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
567 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
568 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
569 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 10
570 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
571 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 10
572 NSL024 Nasal Bones, Absence of 10
573 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
574 c DMN048 Diamond-Blackfan Anemia 19 9
575 OSS016 Ossified Ear Cartilages 9
576 c CLC009 Clcn7-Related Osteopetrosis 9
577 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 9
578 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9
579 NRD064 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion 8
580 OST161 Osteoma of Middle Ear 8
581 OST155 Osteomas of Mandible 8
582 ANG057 Angioosteohypotrophic Syndrome 8
583 IDP078 Idiopathic Phalangeal Acro-Osteolysis 7
584 PBC001 Pubic Bone Dysplasia 7
585 BNP003 Bone Pain, Periodic 7
586 EXP005 Expansile Bone Lesions 7
587 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
588 INV019 Inverse Klippel-Trénaunay Syndrome 6
589 c LRP007 Lrp5-Related Primary Osteoporosis 6
590 P BNS005 Bone Size Quantitative Trait Locus 1 6
591 c BNS006 Bone Size Quantitative Trait Locus 2 6
592 PRM165 Primary Plasmacytoma of the Bone 6
593 OST166 Osteoma of Cranial Vault, Familial 5
594 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
595 CNT014 Central Nervous System Osteosarcoma 5
596 NRD065 Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome 4
597 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
598 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
599 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 4
600 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4
601 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 4
602 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
603 SST002 Sost-Related Sclerosing Bone Dysplasias 3
604 BND005 Bone Dysplasia Azouz Type 3
605 BND008 Bone Dysplasia Moore Type 3
606 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
607 SKL008 Skeletal Dysplasia Orofacial Anomalies 2
608 c SYS001 Systemic Lupus Erythematosus 88
609 MYL069 Myeloma, Multiple 85
610 PFF001 Pfeiffer Syndrome 79
611 P SRC025 Sarcoidosis 1 76
612 MRF001 Marfan Syndrome 76
613 BHC003 Behcet Syndrome 75
614 KWS002 Kawasaki Disease 72
615 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
616 GRN037 Granulomatosis with Polyangiitis 69
617 P LPS004 Lupus Erythematosus 69
618 P AMY004 Amyloidosis 69
619 c PRM196 Premature Ovarian Failure 1 69
620 SMT004 Smith-Lemli-Opitz Syndrome 69
621 P ART023 Arthropathy 68
622 P TMP003 Temporal Arteritis 68
623 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
624 c MCP050 Mucopolysaccharidosis, Type Ii 67
625 P HYD006 Hydrocephalus 66
626 P GCH001 Gaucher's Disease 66
627 MCC012 Mccune-Albright Syndrome 65
628 c CNG411 Congenital Disorder of Glycosylation, Type in 65
629 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
630 c MCP049 Mucopolysaccharidosis, Type Vii 65
631 c GCH015 Gaucher Disease, Type I 65
632 STH001 Saethre-Chotzen Syndrome 64
633 P SHW006 Shwachman-Diamond Syndrome 1 64
634 P RHN004 Rhinitis 63
635 P MCK013 Meckel Syndrome, Type 1 63
636 P HST010 Histiocytosis 63
637 P EHL001 Ehlers-Danlos Syndrome 62
638 GT001 Gout 62
639 HNC001 Henoch-Schoenlein Purpura 62
640 KLP010 Klippel-Trenaunay-Weber Syndrome 61
641 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
642 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 61
643 VSC003 Visceral Leishmaniasis 61
644 P SJG008 Sjogren Syndrome 60
645 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 60
646 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
647 P OCL013 Oculodentodigital Dysplasia 59
648 c MCL013 Mucolipidosis Iv 59
649 P SCL018 Scoliosis 59
650 c CRP023 Carpenter Syndrome 1 59
651 c GCH016 Gaucher Disease, Type Ii 59
652 P SPN052 Spondyloarthropathy 58
653 GRN051 Granulomatous Disease, Chronic, X-Linked 58
654 c MNN047 Mannosidosis, Alpha B, Lysosomal 58
655 P PLY006 Polydactyly 58
656 P ANG015 Angioedema 58
657 P MLT007 Multiple Epiphyseal Dysplasia 58
658 c HRD002 Hereditary Angioedema 57
659 LCR014 Lacrimoauriculodentodigital Syndrome 57
660 c ANG068 Angioedema, Hereditary, Type I 57
661 ERD001 Erdheim-Chester Disease 57
662 GDP001 Goodpasture Syndrome 57
663 c CNG216 Congenital Hydrocephalus 56
664 ASP002 Aspartylglucosaminuria 56
665 ANK001 Ankylosis 56
666 P HLL001 Hallermann-Streiff Syndrome 56
667 P CRN108 Cranioectodermal Dysplasia 1 56
668 P AGG001 Aggressive Periodontitis 56
669 SPN019 Spondylolisthesis 55
670 HRL003 Hurler Syndrome 55
671 c ANM036 Anemia, Sideroblastic, 1 55
672 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 55
673 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
674 OST024 Osteoporosis-Pseudoglioma Syndrome 55
675 SPN051 Spondylitis 55
676 c GCH017 Gaucher Disease, Type Iii 55
677 c FNC042 Fanconi Anemia, Complementation Group D2 54
678 MLT135 Multiple Sulfatase Deficiency 54
679 P OTS001 Otosclerosis 54
680 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
681 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
682 c PRD039 Periodontitis, Aggressive, 1 53
683 GLC012 Galactosialidosis 52
684 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52
685 P FNC044 Fanconi Anemia, Complementation Group C 52
686 FLT011 Felty Syndrome 52
687 HMF009 Hemifacial Hyperplasia 52
688 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
689 DGN001 Degenerative Disc Disease 51
690 SYN005 Synostosis 51
691 PLY112 Polyarteritis Nodosa, Childhood-Onset 51
692 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 51
693 CTY001 Cat Eye Syndrome 51
694 P VNB005 Van Buchem Disease 51
695 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
696 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
697 DRG013 Drug-Induced Lupus Erythematosus 50
698 c ACH041 Achondrogenesis, Type Ii 50
699 HMR002 Hemarthrosis 50
700 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
701 DRM013 Dermoid Cyst 50
702 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 49
703 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
704 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
705 c HRD039 Hereditary Amyloidosis 48
706 ACR058 Acrofacial Dysostosis 1, Nager Type 48
707 c RBN021 Rubinstein-Taybi Syndrome 1 48
708 c MLG054 Malignant Histiocytosis 48
709 c JVN003 Juvenile Xanthogranuloma 48
710 c NML002 Nemaline Myopathy 1 48
711 DYS018 Dysostosis 48
712 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 47
713 P CHN059 Chondrocalcinosis 47
714 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
715 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 47
716 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
717 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
718 P FNG006 Feingold Syndrome 1 47
719 CLB002 Clubfoot 47
720 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 47
721 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 46
722 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
723 c TRC092 Trichorhinophalangeal Syndrome, Type I 46
724 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
725 P MLT072 Multiple Synostoses Syndrome 46
726 P RDL002 Radioulnar Synostosis 46
727 c NML003 Nemaline Myopathy 2 46
728 P MCL001 Mucolipidosis 46
729 SND002 Sneddon Syndrome 46
730 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
731 SHR098 Short-Rib Thoracic Dysplasia 12 45
732 P MNN018 Mannosidosis 45
733 VLL003 Villonodular Synovitis 45
734 c FNC045 Fanconi Anemia, Complementation Group F 44
735 RHM035 Rheumatic Fever-Related Antigen 44
736 c ACQ012 Acquired Angioedema 44
737 c FNC032 Fanconi Anemia, Complementation Group B 44
738 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 44
739 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
740 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 43
741 SPN029 Spondylolysis 43
742 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
743 EPC002 Epicondylitis 43
744 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
745 CHN053 Chondromyxoid Fibroma 43
746 P CNG003 Congenital Dyserythropoietic Anemia 42
747 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42
748 c MCK012 Meckel Syndrome, Type 6 42
749 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
750 c FNC023 Fanconi Anemia, Complementation Group N 42
751 SPN331 Spondyloocular Syndrome 42
752 HYL004 Hyaline Fibromatosis Syndrome 42
753 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
754 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 41
755 P ATL001 Atelosteogenesis 41
756 c FNC028 Fanconi Anemia, Complementation Group L 41
757 MYH012 Myhre Syndrome 41
758 c MCL016 Mucolipidosis Iii Gamma 41
759 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
760 c NML004 Nemaline Myopathy 3 41
761 GNT031 Genitopatellar Syndrome 41
762 c FNC029 Fanconi Anemia, Complementation Group I 41
763 c MCK032 Meckel Syndrome, Type 3 41
764 c HYD064 Hydrocephalus, Congenital, 1 40
765 c SPL034 Split-Hand/foot Malformation 4 40
766 c TYP024 Type Ii Mixed Cryoglobulinemia 40
767 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
768 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
769 ISL121 Isolated Split Hand-Split Foot Malformation 40
770 c DSB006 Desbuquois Dysplasia 1 40
771 c SRC023 Sarcoidosis 2 40
772 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
773 c OTP007 Otopalatodigital Syndrome, Type Ii 40
774 HYD003 Hydrarthrosis 40
775 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
776 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
777 c CHR048 Chronic Rhinitis 40
778 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
779 HRL004 Hurler-Scheie Syndrome 39
780 PDT035 Pediatric Systemic Lupus Erythematosus 39
781 c FNC025 Fanconi Anemia, Complementation Group J 39
782 c VNM003 Van Maldergem Syndrome 1 39
783 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
784 HYP007 Hypermobility Syndrome 39
785 LTT002 Letterer-Siwe Disease 39
786 c PRM093 Premature Ovarian Failure 7 39
787 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
788 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 39
789 ESN017 Eosinophilic Granuloma 39
790 c SCP001 Sc Phocomelia Syndrome 39
791 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
792 c NML005 Nemaline Myopathy 4 38
793 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 38
794 IDP070 Idiopathic Scoliosis 38
795 SPN036 Spinal Chordoma 38
796 c SYS043 Systemic Lupus Erythematosus 1 38
797 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 38
798 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
799 DPH019 Diaphanospondylodysostosis 38
800 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
801 c PSD106 Pseudo-Torch Syndrome 1 38
802 SHL001 Shoulder Impingement Syndrome 38
803 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
804 c MCK031 Meckel Syndrome, Type 2 37
805 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
806 c ATL011 Atelosteogenesis, Type I 37
807 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
808 c SPL070 Split-Hand/foot Malformation 2 37
809 c MTC010 Mitochondrial Dna Depletion Syndrome 37
810 c ATS076 Autosomal Recessive Stickler Syndrome 37
811 PRS037 Periostitis 37
812 MST019 Mastoiditis 37
813 c EPP012 Epiphyseal Dysplasia, Multiple, 2 36
814 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
815 c MCK033 Meckel Syndrome, Type 4 36
816 FNC030 Fanconi Anemia, Complementation Group G 36
817 MND025 Mandibulofacial Dysostosis with Alopecia 36
818 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
819 P GLP001 Geleophysic Dysplasia 36
820 MYL002 Myelophthisic Anemia 36
821 c MCK030 Meckel Syndrome, Type 7 36
822 c SPL033 Split-Hand/foot Malformation 6 36
823 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
824 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
825 c FNC048 Fanconi Anemia, Complementation Group O 36
826 OLC001 Olecranon Bursitis 36
827 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 35
828 c MCK014 Meckel Syndrome, Type 5 35
829 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35
830 c MCP051 Mucopolysaccharidosis, Type Ix 35
831 EPP011 Epiphyseal Chondrodysplasia, Miura Type 35
832 P CLS054 Classic Ehlers-Danlos Syndrome 35
833 CLV002 Clivus Chordoma 35
834 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
835 c NML006 Nemaline Myopathy 5 35
836 TRM011 Terminal Osseous Dysplasia 35
837 c EPP015 Epiphyseal Dysplasia, Multiple, 3 35
838 P CXV002 Coxa Vara 35
839 P OMD003 Omodysplasia 35
840 c ATL015 Atelosteogenesis, Type Ii 35
841 c SVR040 Severe Congenital Nemaline Myopathy 35
842 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
843 P NNT042 Neonatal Lupus Erythematosus 34
844 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
845 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
846 INF159 Infantile Sialic Acid Storage Disease 34
847 c CHN022 Chondrocalcinosis 2 34
848 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
849 CNS013 Constricting Bands, Congenital 34
850 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
851 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
852 NNT039 Neonatal Marfan Syndrome 33
853 c FNC052 Fanconi Anemia, Complementation Group T 33
854 c MYT027 Myotonia Congenita, Autosomal Dominant 33
855 c GLP003 Geleophysic Dysplasia 1 33
856 c SPL025 Split-Hand/foot Malformation 5 33
857 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
858 c CNG379 Congenital Disorder of Glycosylation, Type It 33
859 c FNC047 Fanconi Anemia, Complementation Group Q 33
860 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
861 BRC004 Brachydactyly-Syndactyly Syndrome 32
862 ANG062 Angioosteohypertrophic Syndrome 32
863 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
864 c SYN084 Synpolydactyly 1 32
865 P MTP005 Metaphyseal Anadysplasia 32
866 ISL062 Isolated Plagiocephaly 32
867 c GLP004 Geleophysic Dysplasia 2 32
868 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 32
869 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
870 IDP041 Idiopathic Recurrent Pericarditis 31
871 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
872 P ACR106 Acrocephalopolysyndactyly Type Iii 31
873 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
874 c MCK034 Meckel Syndrome, Type 8 31
875 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 31
876 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
877 c INT274 Intermediate Congenital Nemaline Myopathy 31
878 WLD005 Wild Type Attr Amyloidosis 31
879 CHN009 Chondroid Chordoma 31
880 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
881 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 31
882 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
883 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 31
884 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
885 c OTS005 Otosclerosis 1 30
886 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
887 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 30
888 CVR001 Cavernous Sinus Meningioma 30
889 c CRN109 Cranioectodermal Dysplasia 2 30
890 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
891 c CNG188 Congenital Disorder of Glycosylation, Type if 30
892 ISL096 Isolated Klippel-Feil Syndrome 30
893 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
894 CRN264 Craniosynostosis with Fibular Aplasia 30
895 ALG027 Al-Gazali-Bakalinova Syndrome 30
896 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
897 TBR007 Tuberculum Sellae Meningioma 30
898 PTL002 Patellofemoral Pain Syndrome 30
899 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
900 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
901 P VNM004 Van Maldergem Syndrome 29
902 c OMD001 Omodysplasia 1 29
903 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
904 c RBN008 Rubinstein-Taybi Syndrome 2 29
905 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
906 VND005 Van Den Ende-Gupta Syndrome 29
907 BNG069 Benign Cephalic Histiocytosis 29
908 P DSB002 Desbuquois Dysplasia 29
909 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
910 P ACR093 Acrofrontofacionasal Dysostosis 29
911 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
912 c ATL012 Atelosteogenesis, Type Iii 29
913 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 29
914 c DSB005 Desbuquois Dysplasia 2 29
915 c GCH013 Gaucher Disease, Type Iiic 29
916 c SYM022 Symphalangism, Proximal, 1a 29
917 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
918 P PRD037 Periodontal Ehlers-Danlos Syndrome 28
919 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
920 KMM001 Kummell's Disease 28
921 HYP679 Hypoglossia-Hypodactylia 28
922 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
923 STL007 Steel Syndrome 28
924 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
925 P SKL005 Skull Base Meningioma 28
926 MLR023 Melorheostosis, Isolated 28
927 HLS001 Heel Spur 28
928 P TRC031 Trichorhinophalangeal Syndrome 28
929 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
930 PTR002 Petroclival Meningioma 27
931 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
932 HYP682 Hypertelorism, Teebi Type 27
933 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 27
934 c FRN033 Frontonasal Dysplasia 2 27
935 P ADL037 Adult Xanthogranuloma 27
936 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
937 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
938 P KNN002 Kenny-Caffey Syndrome 27
939 c JVN047 Juvenile Spondyloarthropathy 27
940 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
941 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 27
942 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
943 c CRP022 Carpenter Syndrome 2 27
944 c PSD107 Pseudo-Torch Syndrome 2 27
945 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
946 c ANG045 Angioedema, Hereditary, Type Iii 27
947 ASS004 Aase-Smith Syndrome I 26
948 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
949 c OTF003 Otofaciocervical Syndrome 2 26
950 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 26
951 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
952 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
953 DGT002 Digital Clubbing, Isolated Congenital 26
954 ISL089 Isolated Scaphocephaly 26
955 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
956 PRR001 Periarthritis 26
957 c PRM089 Premature Ovarian Failure 3 26
958 c THR069 Three M Syndrome 2 26
959 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
960 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
961 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
962 ACR017 Acrofacial Dysostosis 26
963 c CRN110 Cranioectodermal Dysplasia 3 26
964 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
965 c OMD002 Omodysplasia 2 25
966 SGL002 Sagliker Syndrome 25
967 ORB011 Orbit Rhabdomyosarcoma 25
968 IGG008 Igg4-Related Mesenteritis 25
969 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
970 c ACR103 Acrofrontofacionasal Dysostosis 1 25
971 c ATS210 Autosomal Recessive Sideroblastic Anemia 25
972 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
973 c ADL068 Adult-Onset Nemaline Myopathy 25
974 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25
975 ISL061 Isolated Brachycephaly 25
976 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
977 c FRN032 Frontonasal Dysplasia 3 25
978 c MCK028 Meckel Syndrome 13 25
979 c PRM192 Premature Ovarian Failure 8 25
980 LMB069 Lamb-Shaffer Syndrome 25
981 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 25
982 ISL087 Isolated Oxycephaly 25
983 c FNG009 Feingold Syndrome 2 24
984 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 24
985 c EHL065 Ehlers-Danlos Syndrome, Type V 24
986 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24
987 c NML022 Nemaline Myopathy 10 24
988 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 24
989 P NNT006 Neonatal Myasthenia Gravis 24
990 c ACR105 Acrofrontofacionasal Dysostosis 2 24
991 EPP010 Epiphysiolysis of the Hip 24
992 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
993 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
994 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 24
995 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
996 c VNM002 Van Maldergem Syndrome 2 24
997 c CRN111 Cranioectodermal Dysplasia 4 24
998 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 24
999 CRN266 Craniofacial Dyssynostosis with Short Stature 24
1000 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1001 P ACR020 Acropectorovertebral Dysplasia 24
1002 c CNG514 Congenital Radioulnar Synostosis 24
1003 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 24
1004 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1005 c THR096 Three M Syndrome 3 24
1006 c MLT060 Multiple Synostoses Syndrome 2 24
1007 GNR023 Generalized Eruptive Histiocytosis 24
1008 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 23
1009 P FRM004 Foramen Magnum Meningioma 23
1010 c MCK035 Meckel Syndrome, Type 10 23
1011 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1012 HGH021 Hughes-Stovin Syndrome 23
1013 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 23
1014 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 23
1015 PTL010 Patella Aplasia-Hypoplasia 23
1016 IGG014 Igg4-Related Sclerosing Cholangitis 23
1017 c DKP001 Dk Phocomelia Syndrome 23
1018 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
1019 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 23
1020 c SYS038 Systemic Lupus Erythematosus 2 23
1021 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
1022 DYS134 Dysspondyloenchondromatosis 23
1023 c NML007 Nemaline Myopathy 6 23
1024 c SYS069 Systemic Lupus Erythematosus 6 23
1025 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
1026 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1027 INF118 Inflammatory Myopathy with Abundant Macrophages 23
1028 c SHW007 Shwachman-Diamond Syndrome 2 23
1029 CMB064 Combined Oxidative Phosphorylation Deficiency 24 23
1030 FBR091 Fibroblastic Rheumatism 23
1031 INT182 Intermittent Hydrarthrosis 23
1032 WLD006 Wild Type Abeta2m Amyloidosis 22
1033 c NML024 Nemaline Myopathy 11, Autosomal Recessive 22
1034 PLC002 Plica Syndrome 22
1035 PRG077 Progressive Nodular Histiocytosis 22
1036 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 22
1037 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 22
1038 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 22
1039 P PHC014 Phocomelia 22
1040 ULN023 Ulnar Hypoplasia 22
1041 FBR010 Fibrogenesis Imperfecta Ossium 22
1042 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1043 ACR101 Acrocraniofacial Dysostosis 22
1044 SPH003 Sphenoorbital Meningioma 22
1045 ANG049 Angioedema Induced by Ace Inhibitors 22
1046 P TRC034 Torch Syndrome 22
1047 c MCK026 Meckel Syndrome 12 22
1048 c MLT078 Multiple Synostoses Syndrome 3 22
1049 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
1050 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1051 RFM002 Roifman-Chitayat Syndrome 22
1052 c PRM090 Premature Ovarian Failure 6 22
1053 c ANM034 Anemia, Sideroblastic, 4 22
1054 P CNG539 Congenital Disorder of Glycosylation with Defective Fucosylation 1 21
1055 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 21
1056 c TRC073 Treacher Collins Syndrome 2 21
1057 INF009 Inflammatory Spondylopathy 21
1058 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
1059 c PRM254 Premature Ovarian Failure 11 21
1060 c NNT025 Neonatal Systemic Lupus Erythematosus 21
1061 LMB003 Lumbosacral Lipoma 21
1062 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1063 MSL005 Mseleni Joint Disease 21
1064 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 21
1065 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 21
1066 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
1067 c NML010 Nemaline Myopathy 7 21
1068 P OVR096 Overlap Myositis 21
1069 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
1070 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
1071 TBL006 Tibial Adamantinoma 21
1072 RDL022 Radial Hemimelia 21
1073 CRN200 Craniosynostosis and Dental Anomalies 21
1074 c SYN088 Synpolydactyly 2 21
1075 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1076 c XLN229 X-Linked Chondrodysplasia Punctata 2 21
1077 c CLC055 Cole-Carpenter Syndrome 2 20
1078 PLV015 Pelvis-Shoulder Dysplasia 20
1079 ISL084 Isolated Trigonocephaly 20
1080 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
1081 c STC012 Stickler Syndrome, Type Iv 20
1082 c PRM207 Premature Ovarian Failure 10 20
1083 c EHL090 Ehlers-Danlos Syndrome Type 7b 20
1084 c NML021 Nemaline Myopathy 9 20
1085 SWN003 Sweeney-Cox Syndrome 20
1086 c PRM094 Premature Ovarian Failure 5 20
1087 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 20
1088 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
1089 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 20
1090 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
1091 c MCK036 Meckel Syndrome, Type 9 20
1092 c PRM191 Premature Ovarian Failure 9 20
1093 AFR001 African Histoplasmosis 20
1094 MNS012 Monostotic Fibrous Dysplasia 20
1095 c STC011 Stickler Syndrome, Type V 19
1096 HMR042 Humero-Ulnar Synostosis 19
1097 c PRM150 Primary Localized Amyloidosis 19
1098 c GLP007 Geleophysic Dysplasia 3 19
1099 EHL064 Ehlers-Danlos Syndrome, Arthrochalasis Type 19
1100 c HYD042 Hydrocephalus, Autosomal Dominant 19
1101 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
1102 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
1103 IGG015 Igg4-Related Thyroid Disease 19
1104 c SYS040 Systemic Lupus Erythematosus 10 19
1105 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
1106 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
1107 c EPP026 Epiphyseal Dysplasia, Multiple, 7 19
1108 SPC002 Specific Bursitis Often of Occupational Origin 19
1109 P PRM176 Premature Ovarian Failure 2a 19
1110 MSM018 Mesomelic Limb Shortening and Bowing 19
1111 c MCK020 Meckel Syndrome, Type 11 19
1112 c ACR108 Acrocephalopolysyndactyly Type Iv 18
1113 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
1114 CRN224 Craniofaciofrontodigital Syndrome 18
1115 CNG284 Congenital Pseudoarthrosis of the Tibia 18
1116 c PRM253 Premature Ovarian Failure 13 18
1117 HST018 Histiocytosis, Progressive Mucinous 18
1118 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 18
1119 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
1120 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 18
1121 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 18
1122 c SYS066 Systemic Polyarteritis Nodosa 18
1123 CTN031 Cutaneous Pseudolymphoma 18
1124 c PRM091 Premature Ovarian Failure 2b 18
1125 c VNB004 Van Buchem Disease, Type 2 18
1126 c TRN062 Transient Neonatal Myasthenia Gravis 18
1127 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
1128 PPL038 Papular Xanthoma 18
1129 FMR013 Femoral Agenesis/hypoplasia 18
1130 MMM002 Mammary-Digital-Nail Syndrome 18
1131 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
1132 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
1133 IGG013 Igg4-Related Pachymeningitis 17
1134 c SX2003 Six2-Related Frontonasal Dysplasia 17
1135 c SYM019 Symphalangism, Proximal, 1b 17
1136 c PRM255 Premature Ovarian Failure 12 17
1137 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1138 SMM003 Summitt Syndrome 17
1139 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 17
1140 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
1141 c MLT166 Multiple Synostoses Syndrome 4 17
1142 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 17
1143 c SRC024 Sarcoidosis 3 17
1144 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
1145 c AHM002 Ah Amyloidosis 17
1146 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1147 JNT004 Joint Laxity, Short Stature, and Myopia 16
1148 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1149 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 16
1150 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 16
1151 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
1152 BRC114 Brachyolmia Type 1, Hobaek Type 16
1153 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
1154 TTR016 Tetra-Amelia Syndrome 16
1155 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
1156 c STC007 Stickler Syndrome, Type 3 16
1157 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1158 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
1159 c CHN021 Chondrocalcinosis 1 16
1160 c OTS007 Otosclerosis 3 16
1161 P ZYG003 Zygodactyly 1 16
1162 RDL031 Radial Aplasia, X-Linked 16
1163 KLL015 Kallmann Syndrome with Spastic Paraplegia 16
1164 c PRM292 Premature Ovarian Failure 14 16
1165 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
1166 AML053 Amelia, Autosomal Recessive 16
1167 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1168 c OTS012 Otosclerosis 10 15
1169 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 15
1170 c CNT108 Central Polydactyly 15
1171 c SYS041 Systemic Lupus Erythematosus 9 15
1172 CRN192 Craniorhiny 15
1173 c SYS046 Systemic Lupus Erythematosus 3 15
1174 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 15
1175 IGG011 Igg4-Related Kidney Disease 15
1176 CNS012 Cono-Spondylar Dysplasia 15
1177 c MTP014 Metaphyseal Anadysplasia 2 15
1178 WHB001 Wahab Syndrome 15
1179 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 15
1180 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
1181 c PRM295 Premature Ovarian Failure 15 15
1182 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
1183 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
1184 HYP497 Hyperphalangy 15
1185 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
1186 c TYP003 Type I Ehlers-Danlos Syndrome 15
1187 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
1188 IGG009 Igg4-Related Ophthalmic Disease 14
1189 c SYS065 Systemic Lupus Erythematosus 11 14
1190 LRS009 Larsen-Like Syndrome, Lethal Type 14
1191 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
1192 c SPN226 Spondyloarthropathy 2 14
1193 ISC019 Ischiovertebral Syndrome 14
1194 DPH002 Diaphragma Sellae Meningioma 14
1195 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
1196 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1197 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
1198 c SYS053 Systemic Lupus Erythematosus 5 14
1199 P OTP002 Otopalatodigital Spectrum Disorders 14
1200 c SYN040 Synpolydactyly 3 14
1201 c DVL011 Developmental Dysplasia of the Hip 2 14
1202 P JVN036 Juvenile Sialidosis Type 2 14
1203 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1204 HRD209 Hereditary Angioedema with Normal C1inh 14
1205 c OTS010 Otosclerosis 7 14
1206 c PSD023 Pseudo-Gaucher Disease 14
1207 VRN007 Variant Abeta2m Amyloidosis 14
1208 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
1209 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1210 c OTS011 Otosclerosis 8 14
1211 c SYS055 Systemic Lupus Erythematosus 12 13
1212 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
1213 P MTC014 Mitochondrial Dna Deletion Syndromes 13
1214 c OTS008 Otosclerosis 4 13
1215 c SYS051 Systemic Lupus Erythematosus 4 13
1216 c SYS047 Systemic Lupus Erythematosus 7 13
1217 TRM018 Traumatic Avascular Necrosis 13
1218 CRN204 Craniofacial Conodysplasia 13
1219 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1220 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1221 ACH028 Acheiria 13
1222 c ACR046 Acropectorovertebral Dysplasia F Form 13
1223 HND012 Handigodu Joint Disease 13
1224 c PRM222 Primary Polyarteritis Nodosa 13
1225 CLV003 Clivus Meningioma 12
1226 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1227 APV001 Aapoaiv Amyloidosis 12
1228 SYM014 Symbrachydactyly of Hands and Feet 12
1229 BCP001 Bicipital Tenosynovitis 12
1230 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
1231 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 12
1232 INT058 Intraorbital Meningioma 12
1233 IGG010 Igg4-Related Aortitis 12
1234 BST002 Baastrup's Syndrome 12
1235 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 12
1236 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
1237 c ACQ036 Acquired Angioedema Type 2 12
1238 c INF052 Infantile Scoliosis 12
1239 IDP040 Idiopathic Eosinophilic Myositis 11
1240 c SYS067 Systemic Lupus Erythematosus 15 11
1241 c SYS052 Systemic Lupus Erythematosus 13 11
1242 c SYS048 Systemic Lupus Erythematosus 8 11
1243 c SYS045 Systemic Lupus Erythematosus 14 11
1244 c SYN050 Syndactyly Type 6 11
1245 c CNG541 Congenital Disorder of Glycosylation with Defective Fucosylation 2 11
1246 c OTS006 Otosclerosis 2 11
1247 c HLL012 Hallermann-Streiff-Like Syndrome 11
1248 PRM233 Primary Cutaneous Plasmacytosis 11
1249 CLV001 Clivus Chondroid Chordoma 11
1250 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1251 PTT005 Pituitary Stalk Meningioma 10
1252 c SPN256 Spondyloarthropathy 3 10
1253 c OTS009 Otosclerosis 5 10
1254 9Q3002 9q33.3q34.11 Microdeletion Syndrome 10
1255 ORB001 Orbit Alveolar Rhabdomyosarcoma 10
1256 GLS016 Glossopalatine Ankylosis 10
1257 FBR007 Fibroosseous Pseudotumor of Digits 10
1258 ALC030 Alect2 Amyloidosis 10
1259 HRD208 Hereditary Angioedema with C1inh Deficiency 10
1260 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1261 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1262 c ZYG007 Zygodactyly Type 3 9
1263 c ANT021 Anterior Foramen Magnum Meningioma 9
1264 ULN014 Ulnar Hemimelia 9
1265 CNG277 Congenital Pseudoarthrosis of the Fibula 9
1266 SCR036 Sacrum Chordoma 9
1267 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
1268 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
1269 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1270 CNG279 Congenital Pseudoarthrosis of the Ulna 9
1271 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
1272 c ZYG006 Zygodactyly Type 2 9
1273 c ACQ035 Acquired Angioedema Type 1 9
1274 SMP006 Simple Cryoglobulinemia 8
1275 BHC001 Behcet's Syndrome Arthropathy 8
1276 c TRN008 Transient Arthropathy 8
1277 AML037 Amelia of Upper Limb 8
1278 TBF001 Tibio-Fibular Synostosis 8
1279 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
1280 CNG278 Congenital Pseudoarthrosis of the Radius 8
1281 CNG283 Congenital Pseudoarthrosis of the Femur 8
1282 PRN048 Prenatal Benign Hypophosphatasia 8
1283 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1284 c ALP056 Alpha-Mannosidosis, Adult Form 8
1285 c SCN055 Secondary Polyarteritis Nodosa 8
1286 c PST023 Posterior Foramen Magnum Meningioma 8
1287 LWR003 Lower Clivus Meningioma 8
1288 APD003 Apodia 8
1289 UPP001 Upper Clivus Meningioma 8
1290 CHR512 Cheirospondyloenchondromatosis 8
1291 CLC050 Calciphylaxis Cutis 8
1292 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1293 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
1294 c ZYG005 Zygodactyly Type 4 8
1295 BPR001 Bipartite Talus 8
1296 c CNG348 Congenital Sialidosis Type 2 7
1297 P RBN007 Rubinstein Taybi Like Syndrome 7
1298 SPH002 Sphenocavernous Meningioma 7
1299 c JVN030 Juvenile Overlap Myositis 7
1300 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
1301 SNG013 Single-Organ Polyarteritis Nodosa 7
1302 HMR031 Humeral Agenesis/hypoplasia 7
1303 HYP500 Hyperphalangy, Unilateral 7
1304 c PRD018 Periodontitis, Aggressive, 2 7
1305 RNN007 Reunion Island Larsen-Like Syndrome 7
1306 NNT045 Neonatal Autoimmune Hemolytic Anemia 7
1307 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 7
1308 CNG289 Congenital Absence/hypoplasia of Thumb 6
1309 CNG287 Congenital Absence of Both Forearm and Hand 6
1310 ACR100 Acrofacial Dysostosis, Patagonia Type 6
1311 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1312 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
1313 HYP501 Hyperphalangy, Bilateral 6
1314 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1315 c MLT004 Multiple Skull Base Meningioma 6
1316 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 6
1317 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
1318 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1319 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
1320 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1321 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1322 HYP010 Hypermobility of Coccyx 6
1323 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
1324 HMR036 Humero-Ulnar Synostosis, Unilateral 6
1325 HMR037 Humero-Ulnar Synostosis, Bilateral 6
1326 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1327 ISL026 Isolated Sternocostoclavicular Hyperostosis 6
1328 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1329 PHL011 Phalanx Chondroma 6
1330 ACQ052 Acquired Angioedema with C1inh Deficiency 6
1331 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1332 c HYD017 Hydrocephalus Autosomal Recessive 5
1333 c OTS004 Otosclerosis, Familial 5
1334 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1335 P SYC001 Say Carpenter Syndrome 5
1336 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1337 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1338 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1339 GNC002 Gonococcal Bursitis 5
1340 MDL018 Madelung Deformity, Unilateral 5
1341 AML036 Amelia of Lower Limb 5
1342 MDL017 Madelung Deformity, Bilateral 5
1343 TNS002 Tenosynovitis of Foot and Ankle 5
1344 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1345 VSC036 Visceral Calciphylaxis 5
1346 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1347 c OCL037 Oculodentodigital Dysplasia Dominant 5
1348 SCN050 Secondary Non-Traumatic Avascular Necrosis 4
1349 LM5001 Lama5-Related Multisystemic Syndrome 4
1350 GNC006 Gonococcal Spondylitis 4
1351 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1352 OVR117 Overgrowth Syndrome with 2q37 Translocation 4
1353 c CXV001 Coxa Vara, Congenital 4
1354 MDF001 Midface Dysplasia 3
1355 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
1356 P LGB001 Leg Absence Deformity Cataract 3
1357 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
1358 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 3
1359 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 45
1360 GRN013 Greenberg Dysplasia 35
1361 CRD221 Cardiospondylocarpofacial Syndrome 39
1362 ODN023 Odontochondrodysplasia 53
1363 BKS003 Beukes Hip Dysplasia 29
1364 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
1365 OST141 Osteoclastic Giant Cell Tumor of Pancreas 15
1366 THM023 Thiemann Disease 23
1367 c LYS021 Loeys-Dietz Syndrome 3 53
1368 ANT003 Antley-Bixler Syndrome 49
1369 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 35
1370 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 22
1371 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 19
1372 P THN009 Thanatophoric Dysplasia, Type I 65
1373 P CMR001 Camurati-Engelmann Disease 62
1374 CMP005 Campomelic Dysplasia 58
1375 P THR117 Three M Syndrome 1 51
1376 P PRM018 Primary Hypertrophic Osteoarthropathy 48
1377 P BLN001 Blount's Disease 42
1378 NST002 Nestor-Guillermo Progeria Syndrome 29
1379 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28
1380 QZM001 Qazi Markouizos Syndrome 14
1381 NLP001 Nail-Patella Syndrome 54
1382 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 49
1383 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 23
1384 OST150 Osteodysplasia, Familial, Anderson Type 18
1385 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 58
1386 PSD014 Pseudopseudohypoparathyroidism 56
1387 SCH068 Schwartz-Jampel Syndrome, Type 1 54
1388 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1389 P CLD001 Cleidocranial Dysplasia 63
1390 WVR001 Weaver Syndrome 61
1391 MLT145 Multiple Enchondromatosis, Maffucci Type 51
1392 FLT006 Floating-Harbor Syndrome 45
1393 FRN039 Frank-Ter Haar Syndrome 38
1394 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 37
1395 WNC001 Winchester Syndrome 35
1396 STY001 Satoyoshi Syndrome 31
1397 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 19
1398 FRB005 Freiberg's Disease 17
1399 c CLD018 Cleidocranial Dysplasia, Recessive Form 15
1400 c SPN225 Spondyloarthropathy 1 76
1401 FBR011 Fibrodysplasia Ossificans Progressiva 64
1402 SPH001 Sapho Syndrome 50
1403 YNS002 Yunis-Varon Syndrome 48
1404 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 48
1405 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 44
1406 RHY001 Rhyns Syndrome 33
1407 KYP002 Kyphomelic Dysplasia 27
1408 c MCP001 Mucopolysaccharidosis Iii 63
1409 c MCP004 Mucopolysaccharidosis Iv 60
1410 SPN008 Spondyloepiphyseal Dysplasia Congenita 58
1411 PSD012 Pseudoachondroplasia 55
1412 c MCP043 Mucopolysaccharidosis, Type Iiia 53
1413 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 51
1414 PYL017 Pyle Disease 51
1415 PYC001 Pycnodysostosis 48
1416 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1417 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 43
1418 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 41
1419 STV003 Stuve-Wiedemann Syndrome 40
1420 LRW001 Leri-Weill Dyschondrosteosis 39
1421 c OTP006 Otopalatodigital Syndrome, Type I 39
1422 c MCP045 Mucopolysaccharidosis, Type Iiic 34
1423 c MCP046 Mucopolysaccharidosis, Type Iiid 31
1424 SCH030 Schneckenbecken Dysplasia 29
1425 c BRC047 Bruck Syndrome 1 28
1426 GRR002 Gurrieri Syndrome 24
1427 BRC095 Brachydactyly, Mononen Type 18
1428 MGC006 Magic Syndrome 14
1429 BMR003 Beemer Ertbruggen Syndrome 10
1430 CRP001 Carpal Tunnel Syndrome 72
1431 P HYP035 Hypophosphatasia 58
1432 ALK013 Alkaptonuria 58
1433 ARM001 Aromatase Deficiency 52
1434 P HRD021 Hereditary Sensory Neuropathy 50
1435 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 46
1436 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 45
1437 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
1438 ACR016 Acromesomelic Dysplasia 34
1439 SPN154 Spondyloperipheral Dysplasia 31
1440 MTC018 Metachondromatosis 29
1441 c SNS009 Sensory Neuropathy Type 1 27
1442 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
1443 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 23
1444 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 22
1445 c NRP039 Neuropathy, Hereditary Sensory, Type Id 22
1446 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
1447 BNP001 Bone Peripheral Neuroepithelioma 16
1448 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
1449 PNT007 Penttinen-Aula Syndrome 10
1450 WDM002 Wiedemann Oldigs Oppermann Syndrome 6
1451 SRC014 Sarcoma 70
1452 RBR001 Roberts Syndrome 56
1453 SPN041 Spinal Cord Disease 55
1454 CFF003 Caffey Disease 51
1455 c THN010 Thanatophoric Dysplasia, Type Ii 51
1456 BLL001 Baller-Gerold Syndrome 50
1457 P RBN002 Robinow Syndrome 46
1458 HYP596 Hypophosphatasia, Childhood 43
1459 c PSD117 Pseudohypoparathyroidism, Type Ic 41
1460 BRD001 Brody Myopathy 41
1461 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 40
1462 c ACR044 Acroosteolysis Dominant Type 36
1463 MTT002 Metatropic Dysplasia 35
1464 LTR009 Lateral Meningocele Syndrome 35
1465 P SNG014 Singleton-Merten Syndrome 31
1466 TRC118 Trichodentoosseous Syndrome 30
1467 SPR031 Sprengel Deformity 29
1468 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 29
1469 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 29
1470 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 27
1471 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 26
1472 c BRC048 Bruck Syndrome 2 25
1473 SCR025 Scarf Syndrome 24
1474 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 23
1475 GRN016 Grant Syndrome 21
1476 ULN007 Ulna Metaphyseal Dysplasia Syndrome 18
1477 BTT012 Battaglia-Neri Syndrome 8
1478 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
1479 CRZ001 Crouzon Syndrome 70
1480 P MSC005 Muscular Dystrophy 66
1481 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
1482 c MCL062 Mucolipidosis Ii Alpha/beta 65
1483 P MYP004 Myopathy 65
1484 HLT001 Holt-Oram Syndrome 63
1485 P CTS001 Cutis Laxa 62
1486 ELL001 Ellis-Van Creveld Syndrome 60
1487 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
1488 c MCL046 Mucolipidosis Iii Alpha/beta 56
1489 c PSD066 Pseudohypoparathyroidism, Type Ib 54
1490 P PLG001 Pelger-Huet Anomaly 54
1491 c MYP132 Myopathy, Congenital 53
1492 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
1493 OCC006 Occipital Horn Syndrome 50
1494 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1495 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
1496 c MSC050 Muscular Dystrophy, Congenital, 1b 48
1497 SYN031 Synovial Chondromatosis 48
1498 CRN005 Craniofrontonasal Syndrome 48
1499 P LRS001 Larsen Syndrome 47
1500 P KLP003 Klippel-Feil Syndrome 46
1501 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 46
1502 c EPP017 Epiphyseal Dysplasia, Multiple, 1 45
1503 P CRB101 Cerebrooculofacioskeletal Syndrome 1 45
1504 c LRS002 Larsen-Like Syndrome 42
1505 RHM014 Rheumatoid Vasculitis 42
1506 ACH001 Acheiropody 41
1507 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
1508 PTC001 Potocki-Shaffer Syndrome 39
1509 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
1510 c CNG112 Congenital Muscular Dystrophy Type 1a 38
1511 P SMT022 Smith-Mccort Dysplasia 1 37
1512 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
1513 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
1514 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
1515 LNG040 Langer Mesomelic Dysplasia 35
1516 CHN057 Chondrodysplasia, Grebe Type 35
1517 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
1518 DNT045 Dental Anomalies and Short Stature 35
1519 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
1520 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
1521 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
1522 c ACQ027 Acquired Cutis Laxa 30
1523 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
1524 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 29
1525 WSM003 Weismann-Netter Syndrome 29
1526 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 29
1527 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 29
1528 BNM005 Bone Marrow Necrosis 28
1529 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 27
1530 c CRB099 Cerebrooculofacioskeletal Syndrome 3 27
1531 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
1532 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
1533 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
1534 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
1535 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
1536 DGT005 Digital Arthropathy-Brachydactyly, Familial 25
1537 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 25
1538 c CMR006 Camurati-Engelmann Disease, Type 2 23
1539 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
1540 c LM2001 Lama2-Related Muscular Dystrophy 22
1541 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
1542 c GNR020 Gne-Related Myopathy 19
1543 FBL014 Fibular Hemimelia 19
1544 SHR023 Short Stature Syndrome, Brussels Type 18
1545 c LTB003 Ltbp4-Related Cutis Laxa 16
1546 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 16
1547 VND003 Van Den Bosch Syndrome 15
1548 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 15
1549 c EFM001 Efemp2-Related Cutis Laxa 14
1550 HNT009 Hunter-Mcalpine Syndrome 14
1551 c PSD024 Pseudo Pelger-Huet Anomaly 11
1552 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
1553 VRL015 Verloes Van Maldergem Marneffe Syndrome 10
1554 c FBL003 Fbln5-Related Cutis Laxa 8
1555 c BNG038 Benign Autosomal Dominant Myopathy 8
1556 MCH009 Michels Caskey Syndrome 8
1557 RZN001 Rozin Hertz Goodman Syndrome 7
1558 HKF001 Ho Kaufman Mcalister Syndrome 7
1559 RCH003 Richieri Costa Da Silva Syndrome 6
1560 PTT018 Petit-Fryns Syndrome 5
1561 c HRD010 Hereditary Spastic Paraplegia 69
1562 SCH036 Scheie Syndrome 67
1563 P THR014 Thrombocytopenia 65
1564 P KLL001 Kallmann Syndrome 64
1565 P TRC072 Treacher Collins Syndrome 1 64
1566 c MCP052 Mucopolysaccharidosis, Type Vi 62
1567 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 61
1568 P NTR004 Neutropenia 61
1569 P MLG056 Malignant Hyperthermia 60
1570 SPN060 Spondylocarpotarsal Synostosis Syndrome 60
1571 MNK003 Muenke Syndrome 59
1572 P PLY041 Polymyositis 59
1573 c SVR003 Severe Congenital Neutropenia 58
1574 ARS001 Aarskog-Scott Syndrome 57
1575 P STC001 Stickler Syndrome 56
1576 RLP001 Relapsing Polychondritis 56
1577 c PTT057 Pituitary Adenoma 4, Acth-Secreting 55
1578 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 55
1579 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
1580 P CNT004 Centronuclear Myopathy 53
1581 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
1582 P ACT010 Acth-Secreting Pituitary Adenoma 52
1583 P CRN013 Craniodiaphyseal Dysplasia 50
1584 P FBR025 Fibrochondrogenesis 50
1585 JCK001 Jackson-Weiss Syndrome 50
1586 c THR071 Thrombocytopenia 1 50
1587 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1588 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
1589 P MYT023 Myotonia Congenita 49
1590 CNN011 Cenani-Lenz Syndactyly Syndrome 49
1591 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
1592 P SCL048 Sclerosteosis 47
1593 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
1594 PYM001 Pyomyositis 46
1595 CNT060 Central Serous Chorioretinopathy 45
1596 ACR013 Acrodysostosis 45
1597 MYP100 Myopathy, X-Linked, with Excessive Autophagy 45
1598 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1599 c MYP123 Myopathy, Centronuclear, 1 42
1600 P HYP776 Hyperparathyroidism, Neonatal Severe 42
1601 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
1602 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
1603 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
1604 c ACQ005 Acquired Thrombocytopenia 40
1605 c MYP131 Myopathy, Centronuclear, 2 40
1606 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
1607 MSS002 Mass Syndrome 39
1608 P ANX007 Anauxetic Dysplasia 1 39
1609 STP011 Stapes Ankylosis with Broad Thumbs and Toes 39
1610 c MLG147 Malignant Hyperthermia 1 39
1611 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
1612 c EPP013 Epiphyseal Dysplasia, Multiple, 5 38
1613 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
1614 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
1615 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
1616 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 38
1617 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
1618 MYT030 Myotonia, Potassium-Aggravated 38
1619 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
1620 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
1621 c STC015 Stickler Syndrome, Type I 38
1622 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
1623 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
1624 TRC097 Tracheomalacia 37
1625 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1626 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
1627 c PRM225 Primary Thrombocytopenia 37
1628 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
1629 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
1630 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
1631 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
1632 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1633 DYS048 Dysplasia Epiphysealis Hemimelica 36
1634 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
1635 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 35
1636 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 35
1637 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
1638 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
1639 SPR126 Superior Semicircular Canal Dehiscence 35
1640 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
1641 ISC016 Ischiocoxopodopatellar Syndrome 35
1642 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1643 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
1644 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
1645 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1646 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
1647 c THR111 Thrombocytopenia 3 34
1648 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
1649 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
1650 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
1651 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
1652 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
1653 c KNN009 Kenny-Caffey Syndrome, Type 1 32
1654 3MC001 3mc Syndrome 2 31
1655 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 31
1656 c SPS031 Spastic Paraplegia 23 31
1657 P SPS012 Spastic Paraplegia 3a 31
1658 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
1659 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1660 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
1661 12Q002 12q14 Microdeletion Syndrome 31
1662 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
1663 c STC013 Stickler Syndrome, Type Ii 30
1664 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
1665 MSM004 Mesomelia-Synostoses Syndrome 29
1666 VRH001 Verheij Syndrome 29
1667 c SPS039 Spastic Paraplegia 5a 29
1668 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
1669 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 29
1670 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
1671 c SPS092 Spastic Paraplegia 11 28
1672 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
1673 c THR037 Thrombocytopenia 2 28
1674 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
1675 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1676 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
1677 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1678 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
1679 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1680 c MYH004 Myh9 Related Thrombocytopenia 28
1681 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
1682 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
1683 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
1684 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
1685 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
1686 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
1687 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
1688 c SPS036 Spastic Paraplegia 3 26
1689 c BRC045 Brachyolmia Type 3 26
1690 c SPS091 Spastic Paraplegia 4 26
1691 c SPS021 Spastic Paraplegia 10 26
1692 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
1693 c MYP148 Myopathy, Centronuclear, 5 26
1694 c HRD186 Hereditary Spastic Paraplegia 51 26
1695 PRS051 Parastremmatic Dwarfism 25
1696 c SPS025 Spastic Paraplegia 15 25
1697 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
1698 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
1699 c THR102 Thrombocytopenia 5 24
1700 c SPS027 Spastic Paraplegia 17 24
1701 OSB001 Osebold-Remondini Syndrome 23
1702 SHS001 Shashi-Pena Syndrome 23
1703 c SPS013 Spastic Paraplegia 8 23
1704 c SPS020 Spastic Paraplegia 1 22
1705 c MLG148 Malignant Hyperthermia 2 22
1706 c MLG149 Malignant Hyperthermia 3 22
1707 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
1708 c THR110 Thrombocytopenia 6 21
1709 c ATP003 Atp6v0a2-Related Cutis Laxa 21
1710 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
1711 c MYP098 Myopathy, Centronuclear, 4 21
1712 P CLL020 Collagenopathy Type 2 Alpha 1 21
1713 c SPS037 Spastic Paraplegia 31 21
1714 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1715 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
1716 c MLG150 Malignant Hyperthermia 4 21
1717 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
1718 c NTR045 Neutropenia, Chronic Familial 20
1719 c SPS041 Spastic Paraplegia 6 20
1720 c MLG151 Malignant Hyperthermia 5 20
1721 c ANX008 Anauxetic Dysplasia 2 19
1722 c JVN046 Juvenile Polymyositis 19
1723 c SPS023 Spastic Paraplegia 13 19
1724 BSL042 Basilar Impression, Primary 19
1725 FXL001 Foix-Alajouanine Syndrome 19
1726 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
1727 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
1728 c SPS028 Spastic Paraplegia 18 19
1729 c SPS042 Spastic Paraplegia 9 18
1730 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
1731 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
1732 c THR048 Thrombocytopenia 4 18
1733 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
1734 c SPS034 Spastic Paraplegia 26 18
1735 GLP002 Geleophysic Dwarfism 18
1736 RBB001 Ribbing Disease 18
1737 c SPS032 Spastic Paraplegia 24 18
1738 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
1739 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
1740 c SPS029 Spastic Paraplegia 19 17
1741 c SPS033 Spastic Paraplegia 25 17
1742 c SPS035 Spastic Paraplegia 29 17
1743 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
1744 c SPS026 Spastic Paraplegia 16 16
1745 c SPS080 Spastic Paraplegia 51 16
1746 c SPS161 Spastic Paraplegia 32 16
1747 c MLG152 Malignant Hyperthermia 6 16
1748 c HRD188 Hereditary Spastic Paraplegia 72 16
1749 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 16
1750 c ANK019 Ankrd26-Related Thrombocytopenia 16
1751 c SPS022 Spastic Paraplegia 12 16
1752 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 16
1753 c SPS024 Spastic Paraplegia 14 15
1754 c SPS038 Spastic Paraplegia 39 15
1755 BNK001 Banki Syndrome 14
1756 PRM291 Premature Aging Syndrome, Okamoto Type 14
1757 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 13
1758 DGH001 Doughnut Lesions of Skull, Familial 12
1759 c SPS040 Spastic Paraplegia 5b 12
1760 VNB002 Van Bogaert-Hozay Syndrome 12
1761 c SPS230 Spastic Paraplegia Type 49 12
1762 c SPS165 Spastic Paraplegia 47 11
1763 ANP010 Anaplastic Plasmacytoma 11
1764 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1765 c KLL008 Kallmann Syndrome 6 10
1766 SKL024 Skeletal-Extraskeletal Angiomatosis 9
1767 FYP001 Faye-Petersen-Ward-Carey Syndrome 9
1768 c KLL005 Kallmann Syndrome 3 9
1769 MGR005 Megarbane Syndrome 9
1770 c KLL006 Kallmann Syndrome 4 9
1771 c CLL016 Collagenopathy, Types Ii and Xi 8
1772 PNS013 Panostotic Fibrous Dysplasia 8
1773 c KLL007 Kallmann Syndrome 5 8
1774 CRT006 Cartilage Cancer 7
1775 c ELN001 Elane-Related Neutropenia 7
1776 CTK001 Cote Katsantoni Syndrome 7
1777 SKL009 Skeletal Dysplasia, San Diego Type 7
1778 PNT008 Pointer Syndrome 6
1779 SLV009 Slavotinek Pike Mills Hurst Syndrome 6
1780 TRC050 Tricho-Dento-Osseous Syndrome 1 6
1781 KZL005 Kozlowski Warren Fisher Syndrome 5
1782 THD001 Theodor Hertz Goodman Syndrome 5
1783 ALS004 Alsing Syndrome 4
1784 VGN025 Vagneur Triolle Ripert Syndrome 4
1785 CHT003 Chitty Hall Webb Syndrome 4
1786 SND004 Sandhaus Ben-Ami Syndrome 4
1787 RGN002 Reginato Shiapachasse Syndrome 3
1788 LCK002 Lockwood Feingold Syndrome 3
1789 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
1790 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1791 P BDY004 Body Mass Index Quantitative Trait Locus 11 74
1792 P GRF003 Graft-Versus-Host Disease 72
1793 APR006 Apert Syndrome 70
1794 TKY002 Takayasu Arteritis 67
1795 c CHR417 Chronic Graft Versus Host Disease 67
1796 ADL030 Adult-Onset Still's Disease 66
1797 SPN186 Spinal Cord Injury 66
1798 P CRN037 Craniosynostosis 66
1799 INC002 Inclusion Body Myositis 64
1800 P CRN015 Cornelia De Lange Syndrome 64
1801 P PNC044 Pancreatitis 62
1802 PLS011 Plasmacytoma 62
1803 SPN027 Spinal Stenosis 62
1804 c PNC108 Pancreatitis, Hereditary 61
1805 ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60
1806 c ALM001 Al Amyloidosis 60
1807 c ACT027 Acute Pancreatitis 59
1808 c FML116 Familial Cold Autoinflammatory Syndrome 1 58
1809 c RHB024 Rhabdomyosarcoma 2 58
1810 ANT009 Antithrombin Iii Deficiency 58
1811 HYP730 Hypogonadotropic Hypogonadism 58
1812 c ACT135 Acute Graft Versus Host Disease 58
1813 SMT008 Smith-Magenis Syndrome 58
1814 CHR619 Chromosome 2q35 Duplication Syndrome 58
1815 P RHB003 Rhabdomyosarcoma 57
1816 MCR088 Microscopic Polyangiitis 57
1817 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 57
1818 c CRN139 Cornelia De Lange Syndrome 1 56
1819 BLD053 Blood Platelet Disease 56
1820 c AMY009 Amyloidosis Aa 56
1821 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1822 GRG001 Greig Cephalopolysyndactyly Syndrome 56
1823 P STS008 Sotos Syndrome 1 55
1824 c BLD124 Bleeding Disorder, Platelet-Type, 11 55
1825 c BRC051 Brachydactyly, Type B1 55
1826 P SCK004 Seckel Syndrome 54
1827 P NLD001 Nail Disease 54
1828 ACR011 Acromesomelic Dysplasia, Maroteaux Type 53
1829 ESN015 Eosinophilic Fasciitis 53
1830 NSD001 Nose Disease 52
1831 SPN020 Spondylosis 52
1832 DYG001 Dyggve-Melchior-Clausen Disease 50
1833 P WLL002 Weill-Marchesani Syndrome 50
1834 P MYP087 Myopathy, Tubular Aggregate, 1 50
1835 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1836 HYP088 Hyper-Igd Syndrome 49
1837 P PRX021 Proximal Symphalangism 49
1838 c BRC109 Brachydactyly, Type E1 49
1839 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1840 PLN005 Palindromic Rheumatism 49
1841 P ANL018 Analbuminemia 48
1842 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
1843 MCR225 Macrophage Activation Syndrome 48
1844 P NML001 Nemaline Myopathy 48
1845 ANT039 Antisynthetase Syndrome 48
1846 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1847 c BRC079 Brachydactyly, Type A2 47
1848 CHN056 Chondrosarcoma, Extraskeletal Myxoid 47
1849 c BRC081 Brachydactyly, Type C 47
1850 MLT134 Multiple Pterygium Syndrome, Lethal Type 46
1851 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
1852 P CPL003 Capillary Leak Syndrome 46
1853 P SCL057 Scoliosis, Isolated 1 46
1854 PST049 Postaxial Acrofacial Dysostosis 46
1855 c SYS007 Systemic Capillary Leak Syndrome 46
1856 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 45
1857 c FNC024 Fanconi Anemia, Complementation Group D1 45
1858 c SCK009 Seckel Syndrome 1 45
1859 c MCP047 Mucopolysaccharidosis, Type Iva 45
1860 P CHN044 Chondrodysplasia Punctata Syndrome 45
1861 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
1862 BRS064 Bursitis 44
1863 ENT004 Enthesopathy 44
1864 c CRN278 Craniosynostosis 1 44
1865 CHN010 Chondroma 43
1866 c BDY020 Body Mass Index Quantitative Trait Locus 19 43
1867 HRT030 Hartsfield Syndrome 43
1868 ATN011 Autoinflammation with Infantile Enterocolitis 43
1869 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
1870 HND004 Hand-Foot-Genital Syndrome 43
1871 P SYN012 Synpolydactyly 42
1872 P YWS001 Yaws 42
1873 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
1874 P PLY147 Polydactyly, Postaxial, Type A1 41
1875 IMM082 Immunodeficiency 18 41
1876 CRR002 Currarino Syndrome 41
1877 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
1878 c EPP014 Epiphyseal Dysplasia, Multiple, 4 41
1879 c SPN330 Spondylocostal Dysostosis 5 40
1880 ASK001 Askin's Tumor 40
1881 c CHL140 Chilblain Lupus 1 40
1882 c SCK015 Seckel Syndrome 2 40
1883 SYN086 Synostoses, Tarsal, Carpal, and Digital 39
1884 FBL002 Fibular Hypoplasia and Complex Brachydactyly 39
1885 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 39
1886 P SPL061 Split Hand-Foot Malformation 39
1887 PRM057 Paramyotonia Congenita of Von Eulenburg 39
1888 c RCR022 Recurrent Acute Pancreatitis 39
1889 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
1890 LRN006 Laurin-Sandrow Syndrome 38
1891 CPM001 Cap Myopathy 38
1892 MLG141 Malignant Atrophic Papulosis 37
1893 MSC012 Muscular Dystrophy, Duchenne and Becker Type 37
1894 FBR089 Fibrosclerosis, Multifocal 37
1895 P DVL012 Developmental Dysplasia of the Hip 1 37
1896 RVL002 Ruvalcaba Syndrome 37
1897 LMB008 Limb-Mammary Syndrome 37
1898 XNT009 Xanthoma Disseminatum 37
1899 TRS002 Tarsal-Carpal Coalition Syndrome 37
1900 FML307 Familial Calcium Pyrophosphate Deposition 37
1901 NRG003 Neurogenic Arthropathy 36
1902 TNS014 Tenosynovitis 36
1903 OCH001 Ochronosis 36
1904 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1905 c SPL024 Split-Hand/foot Malformation 3 36
1906 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 36
1907 MSN004 Mesenchymal Cell Neoplasm 36
1908 c SYS061 Systemic Lupus Erythematosus 16 36
1909 P CRB154 Cerebrocostomandibular Syndrome 35
1910 c SYN061 Syndactyly, Type Iv 35
1911 ORB012 Orbital Cancer 35
1912 c FML117 Familial Cold Autoinflammatory Syndrome 2 35
1913 c DNT021 Dent Disease 2 35
1914 SPN125 Spondyloenchondrodysplasia 35
1915 c BLD152 Bleeding Disorder, Platelet-Type, 16 34
1916 FMR018 Femoral-Facial Syndrome 34
1917 DSM002 Desmosterolosis 34
1918 SHR108 Short Stature, Idiopathic, X-Linked 34
1919 P SYN059 Syndactyly, Type V 34
1920 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
1921 WLN001 Welander Distal Myopathy 34
1922 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 34
1923 MYC015 Mycobacterium Fortuitum 34
1924 TTH001 Tooth Ankylosis 33
1925 CTN019 Cutaneous Polyarteritis Nodosa 32
1926 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 32
1927 UND007 Undifferentiated Connective Tissue Disease 32
1928 P PLY148 Polydactyly, Preaxial Ii 32
1929 c WLL036 Weill-Marchesani Syndrome 1 32
1930 HMF010 Hemifacial Microsomia with Radial Defects 32
1931 ADN029 Adenosine Monophosphate Deaminase 1 Deficiency 31
1932 ENC014 Enchondroma 31
1933 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
1934 HMR015 Humeroradial Synostosis 31
1935 c BLD154 Bleeding Disorder, Platelet-Type, 12 31
1936 EF001 Eaf 30
1937 c SCK011 Seckel Syndrome 5 30
1938 CLV004 Calvarial Hyperostosis 30
1939 ORB009 Orbit Lymphoma 30
1940 c WLL037 Weill-Marchesani Syndrome 2 30
1941 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 30
1942 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
1943 c SCK010 Seckel Syndrome 4 30
1944 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 30
1945 INN003 Iniencephaly 30
1946 KLB005 Kleeblattschaedel 30
1947 MSM016 Mesomelic Dysplasia, Kantaputra Type 29
1948 c STS007 Sotos Syndrome 2 29
1949 FBR028 Fibrosing Mediastinitis 29
1950 c BDY005 Body Mass Index Quantitative Trait Locus 9 29
1951 c BLD156 Bleeding Disorder, Platelet-Type, 14 29
1952 TBL008 Tibial Hemimelia 29
1953 OCL040 Oculomaxillofacial Dysostosis 29
1954 WLD004 Wildervanck Syndrome 29
1955 MTP028 Metaphyseal Dysplasia, Spahr Type 29
1956 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1957 FRN022 Frontofacionasal Dysplasia 28
1958 c CRN277 Craniosynostosis 2 28
1959 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 28
1960 c BDY015 Body Mass Index Quantitative Trait Locus 12 28
1961 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 28
1962 c MLT059 Multiple Synostoses Syndrome 1 28
1963 CHR588 Chromosome 8q22.1 Duplication Syndrome 28
1964 c BDY010 Body Mass Index Quantitative Trait Locus 4 27
1965 c BDY006 Body Mass Index Quantitative Trait Locus 8 27
1966 c BDY012 Body Mass Index Quantitative Trait Locus 7 27
1967 c INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 27
1968 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
1969 CRY024 Crystal Arthropathies 27
1970 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 27
1971 MDL024 Madelung Deformity 27
1972 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 27
1973 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
1974 PST044 Postorgasmic Illness Syndrome 27
1975 ACR099 Acrofacial Dysostosis, Catania Type 27
1976 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1977 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 27
1978 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 27
1979 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26
1980 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
1981 c CRN281 Craniosynostosis 7 26
1982 c SYN060 Syndactyly, Type Iii 26
1983 NCR009 Necrobiotic Xanthogranuloma 26
1984 BJL001 Bejel 26
1985 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
1986 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 26
1987 HSH001 Hashimoto-Pritzker Syndrome 26
1988 c PLY149 Polydactyly, Preaxial Iv 26
1989 HYP648 Hypertension and Brachydactyly Syndrome 26
1990 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 26
1991 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 26
1992 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 26
1993 c CRN134 Cornelia De Lange Syndrome 2 26
1994 c LYS020 Loeys-Dietz Syndrome 5 26
1995 RMR001 Ramer Ladda Syndrome 25
1996 c CRN217 Craniosynostosis 3 25
1997