Bone Diseases Category (2195 diseases)


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

# Family MCID Name MIFTS
1 PGT001 Paget's Disease of Bone 60
2 PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 40
3 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47
4 OST012 Osteoarthritis 88
5 c HRD104 Hereditary Multiple Osteochondromas 35
6 P OST002 Osteoporosis 75
7 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44
8 P OST001 Osteopetrosis 70
9 BRT054 Brittle Bone Disorder 67
10 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 41
11 FML345 Familial Expansile Osteolysis 45
12 c OST080 Osteogenesis Imperfecta, Type Ii 59
13 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 50
14 CHR288 Chronic Recurrent Multifocal Osteomyelitis 55
15 GRC002 Gracile Bone Dysplasia 25
16 BNC003 Bone Cancer 59
17 OST159 Osteogenic Sarcoma 70
18 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28
19 c OST131 Osteopetrosis, Autosomal Dominant 2 43
20 c OST126 Osteopetrosis, Autosomal Recessive 1 36
21 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 55
22 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42
23 CRT002 Cartilage-Hair Hypoplasia 58
24 OST024 Osteoporosis-Pseudoglioma Syndrome 55
25 c OST122 Osteogenesis Imperfecta, Type Iii 57
26 P OST135 Osteogenesis Imperfecta, Type I 56
27 VNB005 Van Buchem Disease 51
28 P RHM011 Rheumatoid Arthritis 91
29 c OST164 Osteoporosis, Juvenile 54
30 GRH001 Gorham's Disease 37
31 c FML169 Familial Osteochondritis Dissecans 29
32 c OST119 Osteogenesis Imperfecta, Type Vii 45
33 c OST129 Osteopetrosis, Autosomal Recessive 2 33
34 c OST134 Osteopetrosis, Autosomal Recessive 6 31
35 c OST136 Osteopetrosis, Autosomal Recessive 7 25
36 c JVN010 Juvenile Rheumatoid Arthritis 71
37 ALB001 Albright's Hereditary Osteodystrophy 55
38 BSC001 Buschke-Ollendorff Syndrome 48
39 BNG036 Bone Giant Cell Tumor 44
40 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42
41 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29
42 END081 Endosteal Hyperostosis, Autosomal Dominant 55
43 OST044 Osteoglophonic Dysplasia 50
44 BNW001 Bone Ewing's Sarcoma 45
45 KHL001 Kohler's Disease 18
46 ONC003 Oncogenic Osteomalacia 45
47 c OST163 Osteopetrosis, Autosomal Recessive 3 33
48 c OST120 Osteopetrosis, Autosomal Recessive 5 23
49 c OST137 Osteopetrosis, Autosomal Recessive 4 23
50 TRC039 Tracheobronchopathia Osteoplastica 15
51 GRD006 Geroderma Osteodysplastica 25
52 HJD001 Hajdu-Cheney Syndrome 64
53 LGG001 Legg-Calve-Perthes Disease 59
54 c OST121 Osteogenesis Imperfecta, Type Iv 49
55 c OST132 Osteogenesis Imperfecta, Type Vi 45
56 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40
57 RNS001 Raine Syndrome 45
58 BNT003 Bent Bone Dysplasia Syndrome 39
59 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 25
60 c JVN025 Juvenile Primary Osteoporosis 19
61 PRM243 Primary Bone Cancer 18
62 ENC044 Enchondromatosis, Multiple, Ollier Type 54
63 CRT017 Cartilage Disease 48
64 c OST125 Osteopetrosis, Autosomal Dominant 1 24
65 CRP009 Carpotarsal Osteochondromatosis 10
66 OST003 Osteonecrosis 63
67 KBG001 Kbg Syndrome 51
68 OSG001 Osgood-Schlatter's Disease 37
69 AXL003 Axial Osteomalacia 33
70 OST022 Osteopathia Striata with Cranial Sclerosis 49
71 SCH072 Scheuermann Disease 41
72 MJD001 Majeed Syndrome 35
73 c OST130 Osteogenesis Imperfecta, Type Ix 30
74 MLT033 Multicentric Osteolysis Nephropathy 9
75 P NGT001 Negative Rheumatoid Factor Polyarthritis 8
76 P CNT056 Cantu Syndrome 51
77 ANR009 Aneurysmal Bone Cysts 46
78 OST014 Osteopoikilosis 39
79 c OST128 Osteogenesis Imperfecta, Type Xii 28
80 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 13
81 c CNT094 Cantú Syndrome and Related Disorders 5
82 P OST009 Osteochondritis Dissecans 58
83 OST015 Osteochondrodysplasia 54
84 BNM001 Bone Marrow Cancer 52
85 c OST118 Osteogenesis Imperfecta, Type Viii 43
86 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 29
87 SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 23
88 c OST124 Osteogenesis Imperfecta, Type V 47
89 BNS001 Bone Osteosarcoma 38
90 CYS041 Cystic Angiomatosis of Bone, Diffuse 26
91 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26
92 BNM015 Bone Mineral Density Quantitative Trait Locus 18 24
93 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 22
94 NVC001 Navicular Bone, Accessory 19
95 BNM030 Bone Mineral Density Quantitative Trait Locus 16 16
96 DNT050 Dentin Dysplasia with Sclerotic Bones 14
97 c EXS019 Exostoses, Multiple, Type I 46
98 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 37
99 c EXS020 Exostoses, Multiple, Type Ii 35
100 c OST110 Osteogenesis Imperfecta, Type Xv 34
101 c OST127 Osteogenesis Imperfecta, Type X 32
102 c OST133 Osteogenesis Imperfecta, Type Xi 32
103 c OST123 Osteogenesis Imperfecta, Type Xiii 26
104 KNB002 Kienbock's Disease 26
105 c OST109 Osteogenesis Imperfecta, Type Xiv 25
106 MLR010 Melorheostosis with Osteopoikilosis 24
107 PCM001 Pacman Dysplasia 23
108 c EXS021 Exostoses, Multiple, Type Iii 18
109 OSS012 Osseous Heteroplasia, Progressive 57
110 OST016 Osteochondrosis 52
111 OST032 Osteofibrous Dysplasia 51
112 SLT009 Solitary Bone Cyst 38
113 GNT026 Gnathodiaphyseal Dysplasia 34
114 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 20
115 c PSD108 Pseudohypoparathyroidism, Type Ia 57
116 c PSD066 Pseudohypoparathyroidism, Type Ib 52
117 P PSD015 Pseudohypoparathyroidism 50
118 RNL011 Renal Osteodystrophy 49
119 c SCN005 Secondary Hypertrophic Osteoarthropathy 44
120 c PSD117 Pseudohypoparathyroidism, Type Ic 39
121 c PSD104 Pseudohypoparathyroidism, Type Ii 34
122 GRD005 Geroderma Osteodysplasticum 29
123 c OST139 Osteogenesis Imperfecta, Type Xvi 24
124 c OST138 Osteogenesis Imperfecta, Type Xvii 24
125 OSL001 Oslam Syndrome 20
126 OST149 Osteolysis Syndrome, Recessive 19
127 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18
128 FRN047 Frontonasal Dysplasia with Alar Clefts 18
129 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
130 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 15
131 ALT005 Aloi Tomasini Isaia Syndrome 9
132 OST013 Osteosarcoma Arising in Bone Paget's Disease 7
133 DST005 Diastrophic Dysplasia 54
134 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 51
135 P CHN012 Chondrosarcoma 56
136 KTL001 Keutel Syndrome 39
137 MLN014 Melnick-Needles Syndrome 37
138 CDS002 Codas Syndrome 32
139 c KNN007 Kenny-Caffey Syndrome, Type 2 30
140 c KNN009 Kenny-Caffey Syndrome, Type 1 30
141 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
142 P KNN002 Kenny-Caffey Syndrome 24
143 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 23
144 OST117 Osteomesopyknosis 23
145 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
146 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 16
147 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 14
148 OST034 Osteogenesis Imperfecta Levin Type 13
149 c LCL005 Localized Chondrosarcoma 9
150 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 37
151 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 37
152 SKL003 Skeletal Muscle Cancer 35
153 JXT003 Juxtacortical Osteosarcoma 35
154 PRP024 Peripheral Osteosarcoma 30
155 INH011 Inherited Bone Marrow Failure Syndromes 28
156 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 23
157 SML003 Small Cell Osteogenic Sarcoma 20
158 CNV007 Conventional Central Osteosarcoma 19
159 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 17
160 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 16
161 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 15
162 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
163 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
164 LRY012 Laryngeal Cartilage Cancer 8
165 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 6
166 INF051 Infantile Recurrent Chronic Multifocal Osteomyolitis 3
167 ACH004 Achondroplasia 67
168 OST017 Osteomyelitis 64
169 OST011 Osteomalacia 52
170 EXS001 Exostosis 46
171 OST004 Osteitis Fibrosa 45
172 OST062 Osteoarthritis with Mild Chondrodysplasia 43
173 BMR001 Boomerang Dysplasia 39
174 CLC057 Cole-Carpenter Syndrome 37
175 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29
176 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 22
177 EKN001 Eiken Syndrome 21
178 ADM013 Adamantinoma of Long Bones 55
179 P OST028 Osteochondroma 51
180 SKL017 Skeletal Dysplasias 48
181 BNN003 Bone Inflammation Disease 46
182 GLC086 Glucocorticoid-Induced Osteoporosis 42
183 ACR043 Acromicric Dysplasia 37
184 SKL001 Skeletal Tuberculosis 37
185 OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 34
186 HMM004 Hamamy Syndrome 27
187 BNL002 Bone Lymphoma 27
188 BNM010 Bone Marrow Failure Syndrome 1 23
189 BND017 Bone Dysplasia, Lethal, Holmgren Type 21
190 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 20
191 OST047 Osteopenia and Sparse Hair 17
192 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 17
193 OST058 Osteopoikilosis and Dacryocystitis 16
194 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 15
195 SHR027 Short Stature Wormian Bones Dextrocardia 11
196 KDN010 Kidney Osteogenic Sarcoma 11
197 CHS003 Chest Wall Bone Cancer 9
198 P BRC015 Bruck Syndrome 44
199 CHP002 Chops Syndrome 40
200 BNM029 Bone Mineral Density Quantitative Trait Locus 15 39
201 P EXT032 Extraosseous Osteosarcoma 38
202 PRS029 Periosteal Osteogenic Sarcoma 36
203 DYS013 Dysbaric Osteonecrosis 35
204 BNR002 Bone Resorption Disease 33
205 BNM022 Bone Mineral Density Quantitative Trait Locus 8 32
206 PGT007 Paget Disease of Bone 3 28
207 FBR013 Fibrosarcomatous Osteosarcoma 25
208 BNG005 Bone Giant Cell Sarcoma 24
209 PGT009 Paget Disease of Bone 2, Early-Onset 24
210 HGH023 High Bone Mass Osteogenesis Imperfecta 24
211 c OST106 Osteopetrosis, Autosomal Recessive 8 23
212 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
213 TRC115 Tracheopathia Osteoplastica 23
214 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 23
215 BNP002 Bone Epithelioid Hemangioma 20
216 BRS030 Breast Osteosarcoma 17
217 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
218 PYK001 Pyknoachondrogenesis 16
219 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 16
220 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 16
221 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 15
222 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 15
223 OCL029 Oculo Skeletal Renal Syndrome 15
224 BNM018 Bone Mineral Density Quantitative Trait Locus 3 14
225 c ADL034 Adult Extraosseous Osteosarcoma 13
226 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 13
227 BWN005 Bowing of Long Bones Congenital 13
228 PLY028 Polycystic Bone Disease 12
229 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 10
230 BNM031 Bone Mineral Density Quantitative Trait Locus 17 9
231 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 9
232 HPT017 Hepatic Osteogenic Sarcoma 8
233 BNM026 Bone Mineral Density Quantitative Trait Locus 12 8
234 MDS009 Mediastinal Osteogenic Sarcoma 7
235 CHL007 Childhood Extraosseous Osteosarcoma 7
236 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
237 BNF002 Bone Fracture 56
238 KNS001 Kniest Dysplasia 53
239 HYP068 Hyperostosis 52
240 MRS004 Marshall-Smith Syndrome 43
241 CZC002 Czech Dysplasia 26
242 BNM011 Bone Marrow Failure Syndrome 2 20
243 PGT011 Paget Disease of Bone 6 19
244 BNM016 Bone Mineral Density Quantitative Trait Locus 1 19
245 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 7
246 CHN070 Cohen-Gibson Syndrome 51
247 FBR009 Fibrous Dysplasia 49
248 c LTH008 Lethal Congenital Contracture Syndrome 2 46
249 c LTH007 Lethal Congenital Contracture Syndrome 1 40
250 CHR543 Chromosome 2q37 Deletion Syndrome 34
251 GRN034 Grange Syndrome 33
252 c DNT025 Dentinogenesis Imperfecta 1 32
253 ERL004 Early Yaws 31
254 P LTH003 Lethal Congenital Contracture Syndrome 28
255 c LTH027 Lethal Congenital Contracture Syndrome 5 26
256 c LTH042 Lethal Congenital Contracture Syndrome 10 24
257 c LTH031 Lethal Congenital Contracture Syndrome 6 24
258 c LTH039 Lethal Congenital Contracture Syndrome 11 24
259 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23
260 c LTH047 Lethal Congenital Contracture Syndrome 3 23
261 c LTH029 Lethal Congenital Contracture Syndrome 9 21
262 c LTH026 Lethal Congenital Contracture Syndrome 4 20
263 c LTH032 Lethal Congenital Contracture Syndrome 7 20
264 c LTH030 Lethal Congenital Contracture Syndrome 8 20
265 PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 17
266 PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 16
267 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 16
268 c DNT048 Dentinogenesis Imperfecta Type 3 13
269 PNN003 Panner Disease 10
270 LNG027 Long Bones of Lower Limb Cancer 8
271 BND005 Bone Dysplasia Azouz Type 7
272 P OCL001 Ocular Albinism 46
273 c ALB024 Albinism, Ocular, Type I 44
274 MLG014 Malignant Fibrous Histiocytoma of Bone 43
275 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
276 OST097 Osteoporotic Fracture 41
277 LYS017 Loeys-Dietz Syndrome 4 38
278 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
279 FBR002 Fibrosarcoma of Bone 36
280 CHN003 Chondroblastic Osteosarcoma 35
281 PDT021 Pediatric Osteosarcoma 34
282 BNR001 Bone Remodeling Disease 31
283 LCL004 Localized Osteosarcoma 28
284 STR088 Stratton-Parker Syndrome 21
285 CLC056 Cole-Carpenter Syndrome 1 20
286 TLN002 Telangiectatic Osteogenic Sarcoma 20
287 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
288 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 19
289 PRM151 Primary Bone Lymphoma 19
290 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 19
291 BMR004 Beemer Lethal Malformation Syndrome 19
292 LSS034 Lissencephaly Type Iii and Bone Dysplasia 18
293 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 18
294 P MLT017 Multifocal Osteogenic Sarcoma 17
295 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
296 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 16
297 EPM003 Epimetaphyseal Skeletal Dysplasia 13
298 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
299 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 11
300 LPS001 Liposarcoma of Bone 11
301 DST098 Distal Osteosclerosis 10
302 OST156 Osteosclerosis with Ichthyosis and Fractures 10
303 INT073 Intracortical Osteogenic Sarcoma 10
304 SYN002 Synchronous Multifocal Osteogenic Sarcoma 10
305 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 10
306 BNN002 Bone Angioendothelial Sarcoma 10
307 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 9
308 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 6
309 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
310 CHL041 Childhood Intracortical Osteosarcoma 6
311 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
312 CHL001 Childhood Parosteal Osteogenic Sarcoma 5
313 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 5
314 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
315 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 5
316 MTC001 Metachronous Osteosarcoma of the Bone 5
317 CTR016 Cataract Skeletal Anomalies 3
318 HYD022 Hydrocephalus Skeletal Anomalies 3
319 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
320 DWR010 Dwarfism Thin Bones Multiple Fractures 3
321 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
322 BRT025 Brittle Bone Syndrome Lethal Type 3
323 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 2
324 CRP008 Carpo Tarsal Osteolysis Recessive 2
325 CTS007 Cutis Laxa Osteoporosis 2
326 c PST038 Positive Rheumatoid Factor Polyarthritis 2
327 CRN080 Craniofacial and Skeletal Defects 2
328 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 2
329 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 2
330 OST115 Osteonecrosis of the Jaw 41
331 CHN004 Chondroblastoma 40
332 END059 Endocrine-Cerebroosteodysplasia 33
333 OST006 Osteoblastoma 32
334 BND014 Bone Development Disease 31
335 CPL004 Caplan's Syndrome 30
336 OST160 Osteoid Osteoma 26
337 BNS002 Bone Structure Disease 26
338 PTR001 Petrositis 25
339 OST168 Osteosclerotic Metaphyseal Dysplasia 21
340 BNM013 Bone Marrow Failure Syndrome 3 19
341 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
342 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 17
343 CHR633 Choroidal Osteoma, Bilateral 10
344 P CTS001 Cutis Laxa 62
345 P OSS001 Ossifying Fibroma 45
346 P CRB101 Cerebrooculofacioskeletal Syndrome 1 42
347 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 40
348 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
349 PTL009 Patella, Chondromalacia of 37
350 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
351 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
352 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
353 RHM013 Rheumatoid Nodulosis 33
354 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 33
355 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
356 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
357 BNS004 Bone Squamous Cell Carcinoma 31
358 ISC005 Ischemic Bone Disease 30
359 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
360 c ACQ027 Acquired Cutis Laxa 29
361 BND004 Bone Deterioration Disease 28
362 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
363 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 27
364 c CRB100 Cerebrooculofacioskeletal Syndrome 4 26
365 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
366 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
367 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
368 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
369 c CRB098 Cerebrooculofacioskeletal Syndrome 2 24
370 CRN272 Craniometadiaphyseal Dysplasia 23
371 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22
372 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20
373 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
374 c CRB099 Cerebrooculofacioskeletal Syndrome 3 20
375 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
376 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 19
377 c JVN045 Juvenile Ossifying Fibroma 17
378 BNB001 Bone Benign Neoplasm 17
379 BNC005 Bone Chondrosarcoma 10
380 BNM012 Bone Ameloblastoma 5
381 P MSC003 Muscular Atrophy 55
382 P SYP003 Syphilis 55
383 PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48
384 P HRD001 Hereditary Multiple Exostoses 45
385 TRN004 Trench Fever 44
386 FCL041 Focal Myositis 42
387 c PRG001 Progressive Muscular Atrophy 41
388 c SCN006 Secondary Syphilis 40
389 c CNG033 Congenital Syphilis 40
390 SLT001 Solitary Osseous Plasmacytoma 39
391 OST008 Osteosclerotic Myeloma 38
392 P ACR062 Acroosteolysis 35
393 GNT001 Giant Cell Reparative Granuloma 34
394 c PRM022 Primary Syphilis 32
395 RHM008 Rheumatic Myocarditis 32
396 c LTC001 Late Congenital Syphilis 25
397 c ERL002 Early Congenital Syphilis 24
398 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 23
399 MZB001 Mazabraud Syndrome 20
400 HYP754 Hypophosphatemic Bone Disease 20
401 ACH002 Achilles Bursitis 20
402 KNN010 Kennerknecht Syndrome 19
403 IDP069 Idiopathic Avascular Necrosis 19
404 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
405 HDZ001 Hadziselimovic Syndrome 19
406 FXL001 Foix-Alajouanine Syndrome 18
407 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 18
408 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 18
409 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
410 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 18
411 VLF001 Velofacioskeletal Syndrome 18
412 WDW001 Widow's Peak 17
413 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
414 ELS005 Elastoma 16
415 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 16
416 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
417 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 14
418 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 14
419 CLB032 Coloboma of Macula and Skeletal Anomalies 14
420 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 14
421 c BLN020 Blount Disease, Infantile 14
422 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 14
423 MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 13
424 PGT006 Paget Disease of Bone 4 13
425 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 13
426 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 13
427 HYD062 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features 13
428 PHL009 Phalangeal Microgeodic Syndrome 12
429 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
430 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
431 ISL032 Isolated Bone Marrow Mastocytosis 12
432 BNM021 Bone Mineral Density Quantitative Trait Locus 7 12
433 THN012 Thanatophoric Dysplasia, Glasgow Variant 12
434 BLN021 Blount Disease, Adolescent 10
435 BNL001 Bone Leiomyosarcoma 10
436 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 10
437 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 10
438 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
439 OSS016 Ossified Ear Cartilages 9
440 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
441 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 9
442 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9
443 NSL024 Nasal Bones, Absence of 9
444 P GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 9
445 MYS073 Myosin, Heavy Chain 16, Skeletal Muscle, Pseudogene 9
446 SND010 Sinding-Larsen-Johansson Disease 8
447 OST161 Osteoma of Middle Ear 8
448 ANG057 Angioosteohypotrophic Syndrome 8
449 IDP078 Idiopathic Phalangeal Acro-Osteolysis 7
450 PBC001 Pubic Bone Dysplasia 7
451 BNP003 Bone Pain, Periodic 7
452 OST155 Osteomas of Mandible 7
453 ORB004 Orbital Osteomyelitis 7
454 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 7
455 EXP005 Expansile Bone Lesions 7
456 BNM028 Bone Mineral Density Quantitative Trait Locus 14 7
457 BNM027 Bone Mineral Density Quantitative Trait Locus 13 7
458 BNM025 Bone Mineral Density Quantitative Trait Locus 11 7
459 BNM024 Bone Mineral Density Quantitative Trait Locus 10 7
460 BNM023 Bone Mineral Density Quantitative Trait Locus 9 7
461 BNM020 Bone Mineral Density Quantitative Trait Locus 6 7
462 BNM019 Bone Mineral Density Quantitative Trait Locus 5 7
463 BNM017 Bone Mineral Density Quantitative Trait Locus 2 7
464 BNM014 Bone Mineral Density Quantitative Trait Locus 4 7
465 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 7
466 INV019 Inverse Klippel-Trénaunay Syndrome 6
467 BNS006 Bone Size Quantitative Trait Locus 2 6
468 BNS005 Bone Size Quantitative Trait Locus 1 6
469 LRP007 Lrp5-Related Primary Osteoporosis 5
470 OST166 Osteoma of Cranial Vault, Familial 5
471 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
472 CNT014 Central Nervous System Osteosarcoma 5
473 PRM165 Primary Plasmacytoma of the Bone 5
474 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4
475 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 4
476 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
477 DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 4
478 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
479 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 4
480 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
481 CLC009 Clcn7-Related Osteopetrosis 3
482 SST002 Sost-Related Sclerosing Bone Dysplasias 3
483 BND008 Bone Dysplasia Moore Type 3
484 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
485 SKL008 Skeletal Dysplasia Orofacial Anomalies 2
486 P ART022 Arthritis 77
487 P AMY004 Amyloidosis 69
488 P CRN037 Craniosynostosis 68
489 P HYD006 Hydrocephalus 68
490 P ART023 Arthropathy 68
491 P MCL013 Mucolipidosis Iv 67
492 P EHL001 Ehlers-Danlos Syndrome 61
493 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
494 P SPN052 Spondyloarthropathy 61
495 P HST010 Histiocytosis 60
496 SPN027 Spinal Stenosis 60
497 GT001 Gout 60
498 P MLT007 Multiple Epiphyseal Dysplasia 57
499 P ANG015 Angioedema 57
500 P BRC006 Brachydactyly 57
501 P SCL018 Scoliosis 56
502 ANK001 Ankylosis 56
503 P CNG411 Congenital Disorder of Glycosylation, Type in 55
504 SPN051 Spondylitis 55
505 SPN019 Spondylolisthesis 55
506 DGN001 Degenerative Disc Disease 55
507 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
508 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 51
509 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
510 HMR002 Hemarthrosis 51
511 SYN005 Synostosis 50
512 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
513 c MLG054 Malignant Histiocytosis 48
514 c HYP293 Hypophosphatasia, Adult 48
515 c JVN003 Juvenile Xanthogranuloma 48
516 c HYP292 Hypophosphatasia, Infantile 48
517 c ANG068 Angioedema, Hereditary, Type I 48
518 DYS018 Dysostosis 48
519 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
520 c HRD039 Hereditary Amyloidosis 47
521 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
522 P CHN059 Chondrocalcinosis 47
523 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
524 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
525 CLB002 Clubfoot 46
526 c PSD106 Pseudo-Torch Syndrome 1 46
527 P RDL002 Radioulnar Synostosis 46
528 VLL003 Villonodular Synovitis 45
529 c ACQ012 Acquired Angioedema 45
530 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 44
531 c MCP047 Mucopolysaccharidosis, Type Iva 44
532 P MNN018 Mannosidosis 44
533 HRT030 Hartsfield Syndrome 43
534 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43
535 SPN029 Spondylolysis 43
536 SHL001 Shoulder Impingement Syndrome 43
537 HYD003 Hydrarthrosis 43
538 IDP070 Idiopathic Scoliosis 42
539 BRS064 Bursitis 42
540 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
541 c RBN009 Robinow Syndrome, Autosomal Recessive 42
542 c CRN278 Craniosynostosis 1 41
543 CHN053 Chondromyxoid Fibroma 41
544 EPC002 Epicondylitis 41
545 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
546 c SPL034 Split-Hand/foot Malformation 4 41
547 PDT035 Pediatric Systemic Lupus Erythematosus 41
548 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41
549 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
550 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
551 c RBN018 Robinow Syndrome, Autosomal Dominant 1 39
552 c MCL016 Mucolipidosis Iii Gamma 39
553 LTT002 Letterer-Siwe Disease 39
554 c DSB006 Desbuquois Dysplasia 1 39
555 c TYP003 Type I Ehlers-Danlos Syndrome 39
556 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
557 HYP041 Hypochondrogenesis 39
558 P ATL001 Atelosteogenesis 38
559 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 38
560 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
561 c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38
562 P NNT042 Neonatal Lupus Erythematosus 38
563 HYP007 Hypermobility Syndrome 37
564 c RBN017 Robinow Syndrome, Autosomal Dominant 2 37
565 c ATL011 Atelosteogenesis, Type I 37
566 c SPL070 Split-Hand/foot Malformation 2 37
567 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 37
568 ESN017 Eosinophilic Granuloma 37
569 P SPL050 Split Hand-Split Foot Malformation 37
570 P PRT042 Parietal Foramina 37
571 MND025 Mandibulofacial Dysostosis with Alopecia 37
572 P HRD086 Hereditary Hypophosphatemic Rickets 36
573 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
574 c ATS076 Autosomal Recessive Stickler Syndrome 36
575 CHN011 Chondromalacia 36
576 c TYP024 Type Ii Mixed Cryoglobulinemia 36
577 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36
578 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 36
579 P GLP001 Geleophysic Dysplasia 35
580 c MCP051 Mucopolysaccharidosis, Type Ix 35
581 c SCL042 Sclerosteosis 2 35
582 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 35
583 c SPL033 Split-Hand/foot Malformation 6 35
584 c SCL045 Sclerosteosis 1 35
585 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
586 OLC001 Olecranon Bursitis 35
587 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
588 c CRN277 Craniosynostosis 2 35
589 c CNG379 Congenital Disorder of Glycosylation, Type It 34
590 TRM011 Terminal Osseous Dysplasia 34
591 RHM035 Rheumatic Fever-Related Antigen 34
592 SPN331 Spondyloocular Syndrome 34
593 c EHL088 Ehlers-Danlos Syndrome Type 2 34
594 c GLP003 Geleophysic Dysplasia 1 34
595 NNT039 Neonatal Marfan Syndrome 33
596 BRC004 Brachydactyly-Syndactyly Syndrome 33
597 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
598 MST019 Mastoiditis 33
599 c ATL015 Atelosteogenesis, Type Ii 33
600 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33
601 INF159 Infantile Sialic Acid Storage Disease 33
602 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32
603 c CHN022 Chondrocalcinosis 2 32
604 INF009 Inflammatory Spondylopathy 32
605 IDP041 Idiopathic Recurrent Pericarditis 32
606 ISL062 Isolated Plagiocephaly 32
607 P OMD003 Omodysplasia 32
608 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
609 c SPL025 Split-Hand/foot Malformation 5 32
610 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31
611 P ACR093 Acrofrontofacionasal Dysostosis 31
612 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
613 ALG027 Al-Gazali-Bakalinova Syndrome 31
614 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
615 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
616 c GLP004 Geleophysic Dysplasia 2 30
617 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
618 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
619 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
620 P BRC003 Brachyolmia 30
621 PTL002 Patellofemoral Pain Syndrome 30
622 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
623 c SYN084 Synpolydactyly 1 29
624 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
625 c ATL012 Atelosteogenesis, Type Iii 29
626 c CNG188 Congenital Disorder of Glycosylation, Type if 29
627 HLS001 Heel Spur 29
628 c OMD001 Omodysplasia 1 29
629 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
630 BNG069 Benign Cephalic Histiocytosis 29
631 CRN264 Craniosynostosis with Fibular Aplasia 29
632 DRG013 Drug-Induced Lupus Erythematosus 29
633 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
634 IGG014 Igg4-Related Sclerosing Cholangitis 29
635 ISL096 Isolated Klippel-Feil Syndrome 29
636 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
637 DSC004 Discitis 28
638 P DSB002 Desbuquois Dysplasia 28
639 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 28
640 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
641 HYP679 Hypoglossia-Hypodactylia 28
642 KMM001 Kummell's Disease 28
643 P ACR106 Acrocephalopolysyndactyly Type Iii 28
644 CNS013 Constricting Bands, Congenital 28
645 ISL061 Isolated Brachycephaly 28
646 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
647 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
648 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
649 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 27
650 STL007 Steel Syndrome 27
651 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
652 c RBN020 Robinow Syndrome, Autosomal Dominant 3 27
653 HYP674 Hyperostosis Cranialis Interna 27
654 c JVN047 Juvenile Spondyloarthropathy 27
655 c PRT059 Parietal Foramina 1 27
656 PRR001 Periarthritis 27
657 c TRN014 Transient Arthritis 27
658 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
659 c PSD107 Pseudo-Torch Syndrome 2 27
660 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
661 PRT043 Parietal Foramina with Cleidocranial Dysplasia 26
662 ISL089 Isolated Scaphocephaly 26
663 c ANG045 Angioedema, Hereditary, Type Iii 26
664 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
665 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
666 c BRC062 Brachydactyly, Type D 26
667 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 26
668 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
669 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
670 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
671 P NNT006 Neonatal Myasthenia Gravis 25
672 ANG049 Angioedema Induced by Ace Inhibitors 25
673 ANG062 Angioosteohypertrophic Syndrome 25
674 P ADL037 Adult Xanthogranuloma 25
675 c RBN008 Rubinstein-Taybi Syndrome 2 25
676 c CRN281 Craniosynostosis 7 25
677 WLD006 Wild Type Abeta2m Amyloidosis 25
678 c FRN033 Frontonasal Dysplasia 2 25
679 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
680 LBN004 Liebenberg Syndrome 25
681 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
682 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
683 SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 25
684 P PRD037 Periodontal Ehlers-Danlos Syndrome 25
685 c CRN217 Craniosynostosis 3 25
686 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 25
687 DGT002 Digital Clubbing, Isolated Congenital 25
688 P TRC031 Trichorhinophalangeal Syndrome 25
689 c OMD002 Omodysplasia 2 25
690 c ACR103 Acrofrontofacionasal Dysostosis 1 25
691 c PRT060 Parietal Foramina 2 24
692 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
693 WLD005 Wild Type Attr Amyloidosis 24
694 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
695 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 24
696 CRN266 Craniofacial Dyssynostosis with Short Stature 24
697 ACR017 Acrofacial Dysostosis 24
698 PTL010 Patella Aplasia-Hypoplasia 24
699 DNT045 Dental Anomalies and Short Stature 24
700 MRF019 Marfan Lipodystrophy Syndrome 24
701 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
702 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
703 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 23
704 ISL087 Isolated Oxycephaly 23
705 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
706 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
707 ACR101 Acrocraniofacial Dysostosis 23
708 PRG077 Progressive Nodular Histiocytosis 23
709 c STC012 Stickler Syndrome, Type Iv 23
710 HGH021 Hughes-Stovin Syndrome 23
711 MLR023 Melorheostosis, Isolated 23
712 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
713 ULN023 Ulnar Hypoplasia 23
714 c BRC052 Brachydactyly, Type B2 23
715 FBR091 Fibroblastic Rheumatism 22
716 c ACR105 Acrofrontofacionasal Dysostosis 2 22
717 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 22
718 GNR023 Generalized Eruptive Histiocytosis 22
719 c BRC080 Brachydactyly, Type A1, B 22
720 c FNG009 Feingold Syndrome 2 22
721 c ACR108 Acrocephalopolysyndactyly Type Iv 22
722 c BRC108 Brachydactyly, Type A3 22
723 ACR095 Acrofacial Dysostosis, Cincinnati Type 22
724 PLC002 Plica Syndrome 22
725 TRG019 Trigonocephaly with Short Stature and Developmental Delay 22
726 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
727 MSL005 Mseleni Joint Disease 22
728 c STC011 Stickler Syndrome, Type V 22
729 c DSB005 Desbuquois Dysplasia 2 22
730 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
731 c FRN032 Frontonasal Dysplasia 3 22
732 c SYN088 Synpolydactyly 2 22
733 c EPP012 Epiphyseal Dysplasia, Multiple, 2 22
734 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
735 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
736 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 22
737 P ACR020 Acropectorovertebral Dysplasia 22
738 MNS012 Monostotic Fibrous Dysplasia 22
739 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
740 c EPP015 Epiphyseal Dysplasia, Multiple, 3 21
741 P OTP001 Otopalatodigital Syndrome 21
742 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 21
743 c BRC075 Brachydactyly, Type A1, C 21
744 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 21
745 c EHL065 Ehlers-Danlos Syndrome, Type V 21
746 c CRN256 Craniosynostosis 6 21
747 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
748 CRN200 Craniosynostosis and Dental Anomalies 21
749 PLV015 Pelvis-Shoulder Dysplasia 21
750 P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21
751 SGL002 Sagliker Syndrome 21
752 DYS134 Dysspondyloenchondromatosis 21
753 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
754 c BRC053 Brachyolmia Type 2 21
755 c BRC105 Brachydactyly, Type A1, D 20
756 c BRC060 Brachydactyly, Type E2 20
757 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 20
758 P OVR096 Overlap Myositis 20
759 EPP010 Epiphysiolysis of the Hip 20
760 c EPP009 Epiphyseal Dysplasia, Multiple, 6 20
761 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 20
762 ISL084 Isolated Trigonocephaly 20
763 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 20
764 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
765 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
766 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 20
767 c CNG514 Congenital Radioulnar Synostosis 20
768 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 20
769 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19
770 c BRC035 Brachydactyly Type A5 19
771 c PRM150 Primary Localized Amyloidosis 19
772 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
773 INT182 Intermittent Hydrarthrosis 19
774 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 19
775 IND009 Indeterminate Cell Histiocytosis 19
776 MSM018 Mesomelic Limb Shortening and Bowing 19
777 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
778 EPP011 Epiphyseal Chondrodysplasia, Miura Type 19
779 HST018 Histiocytosis, Progressive Mucinous 19
780 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
781 CRN224 Craniofaciofrontodigital Syndrome 18
782 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18
783 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 18
784 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
785 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 18
786 PPL038 Papular Xanthoma 18
787 c SYS066 Systemic Polyarteritis Nodosa 18
788 RNN006 Reunion Island Larsen Syndrome 18
789 c HYD042 Hydrocephalus, Autosomal Dominant 18
790 INF118 Inflammatory Myopathy with Abundant Macrophages 18
791 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18
792 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 18
793 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 17
794 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
795 BRC096 Brachydactyly-Distal Symphalangism Syndrome 17
796 c TRN062 Transient Neonatal Myasthenia Gravis 17
797 c CRN216 Craniosynostosis 5 17
798 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 17
799 MMM002 Mammary-Digital-Nail Syndrome 17
800 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
801 P TRC034 Torch Syndrome 17
802 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
803 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 17
804 SPC002 Specific Bursitis Often of Occupational Origin 17
805 FBL014 Fibular Hemimelia 17
806 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
807 c NNT025 Neonatal Systemic Lupus Erythematosus 16
808 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
809 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 16
810 c EPP026 Epiphyseal Dysplasia, Multiple, 7 16
811 RDL031 Radial Aplasia, X-Linked 16
812 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
813 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
814 RDL022 Radial Hemimelia 16
815 AML053 Amelia, Autosomal Recessive 16
816 CTN031 Cutaneous Pseudolymphoma 16
817 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
818 c PRT113 Parietal Foramina 3 15
819 P ZYG003 Zygodactyly 1 15
820 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 15
821 c CHN021 Chondrocalcinosis 1 15
822 CNS012 Cono-Spondylar Dysplasia 15
823 FMR013 Femoral Agenesis/hypoplasia 15
824 IGG011 Igg4-Related Kidney Disease 15
825 WHB001 Wahab Syndrome 15
826 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 15
827 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 15
828 c SYN040 Synpolydactyly 3 15
829 HYP497 Hyperphalangy 15
830 HLL014 Hallux Varus and Preaxial Polysyndactyly 15
831 IGG013 Igg4-Related Pachymeningitis 15
832 c OTP002 Otopalatodigital Spectrum Disorders 15
833 IGG008 Igg4-Related Mesenteritis 15
834 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14
835 LRS009 Larsen-Like Syndrome, Lethal Type 14
836 IGG009 Igg4-Related Ophthalmic Disease 14
837 CRN204 Craniofacial Conodysplasia 14
838 c SPN226 Spondyloarthropathy 2 14
839 CNG284 Congenital Pseudoarthrosis of the Tibia 14
840 LGB002 Leg, Absence Deformity of, with Congenital Cataract 14
841 TRP023 Triphalangeal Thumbs and Dislocation of Patella 14
842 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
843 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
844 VRN007 Variant Abeta2m Amyloidosis 14
845 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
846 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 14
847 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14
848 c BRC069 Brachydactyly of Toes 14
849 PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 14
850 PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14
851 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 14
852 c STC007 Stickler Syndrome, Type 3 14
853 BCP001 Bicipital Tenosynovitis 14
854 c RBN010 Robinow-Like Syndrome 13
855 c GLP007 Geleophysic Dysplasia 3 13
856 c AHM002 Ah Amyloidosis 13
857 c SPN121 Spondylocostal Dysostosis 1 13
858 TBL017 Tibial Hemimelia, Bilateral 13
859 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 13
860 ACH028 Acheiria 13
861 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 13
862 RDL018 Radial Hemimelia, Unilateral 13
863 RDL017 Radial Hemimelia, Bilateral 13
864 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
865 TRM018 Traumatic Avascular Necrosis 13
866 HND012 Handigodu Joint Disease 13
867 CNT080 Central Polydactyly of Fingers 13
868 c MXD037 Mixed Cryoglobulinemia Type Iii 13
869 APV001 Aapoaiv Amyloidosis 12
870 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
871 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 12
872 IGG015 Igg4-Related Thyroid Disease 12
873 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
874 c INF052 Infantile Scoliosis 12
875 9Q3002 9q33.3q34.11 Microdeletion Syndrome 12
876 c ACQ036 Acquired Angioedema Type 2 12
877 c SYN050 Syndactyly Type 6 12
878 IMP018 Imperforate Oropharynx-Costo Vertebral Anomalies Syndrome 11
879 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 11
880 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 11
881 PRM233 Primary Cutaneous Plasmacytosis 11
882 BST002 Baastrup's Syndrome 11
883 ULN014 Ulnar Hemimelia 11
884 c PST083 Postaxial Polydactyly Type a, Bilateral 11
885 c PRM222 Primary Polyarteritis Nodosa 11
886 c BRC037 Brachydactyly Type A7 11
887 IDP040 Idiopathic Eosinophilic Myositis 10
888 HMR042 Humero-Ulnar Synostosis 10
889 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
890 c SPN122 Spondylocostal Dysostosis 2 10
891 GLS016 Glossopalatine Ankylosis 10
892 c ACR046 Acropectorovertebral Dysplasia F Form 10
893 c SPN124 Spondylocostal Dysostosis 4 10
894 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
895 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
896 c ZYG007 Zygodactyly Type 3 10
897 APD003 Apodia 10
898 CNG277 Congenital Pseudoarthrosis of the Fibula 10
899 c SPN256 Spondyloarthropathy 3 9
900 CRN261 Craniosynostosis-Cataract Syndrome 9
901 ISC011 Ischio-Vertebral Syndrome 9
902 AML037 Amelia of Upper Limb 9
903 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
904 BHC001 Behcet's Syndrome Arthropathy 9
905 c SPN123 Spondylocostal Dysostosis 3 9
906 ALC030 Alect2 Amyloidosis 9
907 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 9
908 c ZYG006 Zygodactyly Type 2 9
909 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 8
910 IGG010 Igg4-Related Aortitis 8
911 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
912 PRN048 Prenatal Benign Hypophosphatasia 8
913 CNG289 Congenital Absence/hypoplasia of Thumb 8
914 CNG287 Congenital Absence of Both Forearm and Hand 8
915 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 8
916 CNG283 Congenital Pseudoarthrosis of the Femur 8
917 CNG278 Congenital Pseudoarthrosis of the Radius 8
918 CNG279 Congenital Pseudoarthrosis of the Ulna 8
919 TBF001 Tibio-Fibular Synostosis 8
920 c TRN008 Transient Arthropathy 8
921 CNG290 Congenital Absence of Both Lower Leg and Foot 8
922 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 8
923 c SCN055 Secondary Polyarteritis Nodosa 8
924 CLC050 Calciphylaxis Cutis 8
925 OKH001 Okihiro Syndrome Due to a Point Mutation 8
926 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
927 c ZYG005 Zygodactyly Type 4 8
928 BPR001 Bipartite Talus 8
929 c ACQ035 Acquired Angioedema Type 1 8
930 P JVN036 Juvenile Sialidosis Type 2 8
931 c CNG348 Congenital Sialidosis Type 2 8
932 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
933 c JVN030 Juvenile Overlap Myositis 7
934 HMR031 Humeral Agenesis/hypoplasia 7
935 SNG013 Single-Organ Polyarteritis Nodosa 7
936 HYP500 Hyperphalangy, Unilateral 7
937 SMP006 Simple Cryoglobulinemia 7
938 NNT045 Neonatal Autoimmune Hemolytic Anemia 7
939 c ALP056 Alpha-Mannosidosis, Adult Form 7
940 c ALP055 Alpha-Mannosidosis, Infantile Form 7
941 c HYD017 Hydrocephalus Autosomal Recessive 7
942 TRG018 Trigonocephaly-Broad Thumbs Syndrome 7
943 CNG313 Congenital Absence/hypoplasia of Thumb, Unilateral 7
944 CNG312 Congenital Absence/hypoplasia of Thumb, Bilateral 7
945 AML036 Amelia of Lower Limb 7
946 PLY095 Polysyndactyly, Unilateral 7
947 PLY094 Polysyndactyly, Bilateral 7
948 CNT082 Central Polydactyly of Fingers, Unilateral 7
949 CNT083 Central Polydactyly of Fingers, Bilateral 7
950 HYP501 Hyperphalangy, Bilateral 7
951 RDL019 Radio-Ulnar Synostosis, Unilateral 7
952 RDL020 Radio-Ulnar Synostosis, Bilateral 7
953 HYP010 Hypermobility of Coccyx 7
954 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
955 ACH030 Acheiria, Unilateral 6
956 ACH029 Acheiria, Bilateral 6
957 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
958 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
959 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
960 ISL026 Isolated Sternocostoclavicular Hyperostosis 6
961 RGR003 Regressive Spondylometaphyseal Dysplasia 6
962 SVR046 Severe Lateral Tibial Bowing with Short Stature 6
963 SX2003 Six2-Related Frontonasal Dysplasia 6
964 PTL008 Patella Aplasia/hypoplasia, Bilateral 6
965 ULN012 Ulnar Hemimelia, Bilateral 6
966 ULN011 Ulnar Hemimelia, Unilateral 6
967 TBL018 Tibial Hemimelia, Unilateral 6
968 FBL013 Fibular Hemimelia, Unilateral 6
969 FBL012 Fibular Hemimelia, Bilateral 6
970 CNG309 Congenital Absence of Both Forearm and Hand, Unilateral 6
971 CNG308 Congenital Absence of Both Forearm and Hand, Bilateral 6
972 CNG311 Congenital Absence of Both Lower Leg and Foot, Unilateral 6
973 CNG310 Congenital Absence of Both Lower Leg and Foot, Bilateral 6
974 APD005 Apodia, Unilateral 6
975 APD004 Apodia, Bilateral 6
976 CNG276 Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral 6
977 CNG275 Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral 6
978 CNG307 Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral 6
979 CNG306 Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral 6
980 FMR015 Femoral Agenesis/hypoplasia, Unilateral 6
981 FMR014 Femoral Agenesis/hypoplasia, Bilateral 6
982 HMR030 Humeral Agenesis/hypoplasia, Unilateral 6
983 HMR029 Humeral Agenesis/hypoplasia, Bilateral 6
984 PLY093 Polydactyly of an Index Finger, Unilateral 6
985 PLY096 Polydactyly of an Index Finger, Bilateral 6
986 PLY107 Polydactyly of a Biphalangeal Thumb, Unilateral 6
987 PLY108 Polydactyly of a Biphalangeal Thumb, Bilateral 6
988 P PST080 Postaxial Polydactyly Type a, Unilateral 6
989 c PST082 Postaxial Polydactyly Type B, Unilateral 6
990 c PST081 Postaxial Polydactyly Type B, Bilateral 6
991 HMR032 Humero-Radial Synostosis, Unilateral 6
992 HMR033 Humero-Radial Synostosis, Bilateral 6
993 HMR034 Humero-Radio-Ulnar Synostosis, Unilateral 6
994 HMR035 Humero-Radio-Ulnar Synostosis, Bilateral 6
995 HMR036 Humero-Ulnar Synostosis, Unilateral 6
996 HMR037 Humero-Ulnar Synostosis, Bilateral 6
997 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
998 ACR100 Acrofacial Dysostosis, Patagonia Type 6
999 P RBN007 Rubinstein Taybi Like Syndrome 6
1000 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1001 GNC002 Gonococcal Bursitis 5
1002 c CRN093 Craniosynostosis Autosomal Dominant 5
1003 VSC036 Visceral Calciphylaxis 5
1004 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
1005 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1006 DYS128 Dysplasia of Head of Femur, Meyer Type 5
1007 MDL018 Madelung Deformity, Unilateral 5
1008 MDL017 Madelung Deformity, Bilateral 5
1009 CHR512 Cheirospondyloenchondromatosis 5
1010 PTL007 Patella Aplasia/hypoplasia, Unilateral 5
1011 AML034 Amelia of Upper Limb, Unilateral 5
1012 AML035 Amelia of Upper Limb, Bilateral 5
1013 AML033 Amelia of Lower Limb, Unilateral 5
1014 AML032 Amelia of Lower Limb, Bilateral 5
1015 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1016 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
1017 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1018 TNS002 Tenosynovitis of Foot and Ankle 5
1019 P PST085 Postaxial Polydactyly of Toes, Bilateral 5
1020 GNC006 Gonococcal Spondylitis 5
1021 PRG089 Progeria-Associated Arthropathy 4
1022 SCN050 Secondary Non-Traumatic Avascular Necrosis 4
1023 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1024 OVR116 Overgrowth Syndrome with 2q37 Translocations 4
1025 c SPL020 Split Hand Split Foot Malformation Autosomal Recessive 4
1026 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
1027 MDF001 Midface Dysplasia 3
1028 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 3
1029 GRN013 Greenberg Dysplasia 36
1030 PGT008 Paget Disease of Bone 5, Juvenile-Onset 44
1031 CRD221 Cardiospondylocarpofacial Syndrome 39
1032 BKS003 Beukes Hip Dysplasia 32
1033 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
1034 THM023 Thiemann Disease 20
1035 LYS021 Loeys-Dietz Syndrome 3 33
1036 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 33
1037 P MYL005 Myelofibrosis 75
1038 c HRD010 Hereditary Spastic Paraplegia 68
1039 MCC012 Mccune-Albright Syndrome 65
1040 P CMR001 Camurati-Engelmann Disease 62
1041 P THR117 Three M Syndrome 1 52
1042 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
1043 FLT011 Felty Syndrome 51
1044 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
1045 ANT003 Antley-Bixler Syndrome 50
1046 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
1047 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
1048 P PRM018 Primary Hypertrophic Osteoarthropathy 46
1049 CHN054 Chondrodysplasia, Blomstrand Type 45
1050 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
1051 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
1052 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
1053 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
1054 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
1055 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
1056 P BLN001 Blount's Disease 39
1057 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
1058 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
1059 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
1060 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1061 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
1062 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
1063 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
1064 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
1065 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
1066 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
1067 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
1068 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
1069 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
1070 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
1071 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
1072 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
1073 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
1074 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1075 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
1076 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
1077 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
1078 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
1079 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
1080 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
1081 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
1082 c EPP017 Epiphyseal Dysplasia, Multiple, 1 31
1083 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
1084 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
1085 P SPS012 Spastic Paraplegia 3a 31
1086 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
1087 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
1088 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
1089 c SPS031 Spastic Paraplegia 23 29
1090 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1091 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 28
1092 c SPS036 Spastic Paraplegia 3 28
1093 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1094 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
1095 c EPP014 Epiphyseal Dysplasia, Multiple, 4 28
1096 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
1097 c HRD186 Hereditary Spastic Paraplegia 51 27
1098 c EPP013 Epiphyseal Dysplasia, Multiple, 5 27
1099 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
1100 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
1101 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
1102 c SPS092 Spastic Paraplegia 11 26
1103 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
1104 c SPS021 Spastic Paraplegia 10 26
1105 c SPS039 Spastic Paraplegia 5a 25
1106 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
1107 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
1108 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
1109 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
1110 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
1111 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
1112 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
1113 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
1114 c THR096 Three M Syndrome 3 24
1115 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
1116 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
1117 c SPS025 Spastic Paraplegia 15 23
1118 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
1119 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
1120 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
1121 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
1122 c SPS091 Spastic Paraplegia 4 21
1123 c SPS041 Spastic Paraplegia 6 21
1124 c THR069 Three M Syndrome 2 21
1125 c SPS020 Spastic Paraplegia 1 20
1126 c SPS013 Spastic Paraplegia 8 19
1127 c SPS037 Spastic Paraplegia 31 18
1128 c SPS034 Spastic Paraplegia 26 18
1129 c SPS023 Spastic Paraplegia 13 18
1130 c SPS028 Spastic Paraplegia 18 18
1131 c SPS027 Spastic Paraplegia 17 17
1132 c SPS080 Spastic Paraplegia 51 16
1133 c SPS022 Spastic Paraplegia 12 16
1134 c SPS161 Spastic Paraplegia 32 15
1135 c SPS035 Spastic Paraplegia 29 15
1136 c SPS033 Spastic Paraplegia 25 15
1137 c SPS032 Spastic Paraplegia 24 15
1138 c HRD188 Hereditary Spastic Paraplegia 72 15
1139 c SPS029 Spastic Paraplegia 19 15
1140 c SPS026 Spastic Paraplegia 16 15
1141 c SPS038 Spastic Paraplegia 39 14
1142 c SPS024 Spastic Paraplegia 14 13
1143 OST141 Osteoclastic Giant Cell Tumor of Pancreas 13
1144 c SPS040 Spastic Paraplegia 5b 11
1145 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
1146 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
1147 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
1148 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
1149 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
1150 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
1151 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
1152 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
1153 c FML078 Familial Myelofibrosis 7
1154 P THN009 Thanatophoric Dysplasia, Type I 66
1155 QZM001 Qazi Markouizos Syndrome 13
1156 PSD014 Pseudopseudohypoparathyroidism 56
1157 NLP001 Nail-Patella Syndrome 56
1158 NST002 Nestor-Guillermo Progeria Syndrome 27
1159 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 21
1160 ECT103 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 19
1161 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 18
1162 WVR001 Weaver Syndrome 61
1163 SCH068 Schwartz-Jampel Syndrome, Type 1 54
1164 FLT006 Floating-Harbor Syndrome 45
1165 STY001 Satoyoshi Syndrome 32
1166 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 30
1167 OST150 Osteodysplasia, Familial, Anderson Type 17
1168 FRB005 Freiberg's Disease 14
1169 PFF001 Pfeiffer Syndrome 74
1170 c SPN225 Spondyloarthropathy 1 71
1171 KLP010 Klippel-Trenaunay-Weber Syndrome 60
1172 CFF002 Coffin-Lowry Syndrome 58
1173 SPH001 Sapho Syndrome 54
1174 FRN039 Frank-Ter Haar Syndrome 37
1175 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 32
1176 KYP002 Kyphomelic Dysplasia 27
1177 PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 22
1178 c MCP050 Mucopolysaccharidosis, Type Ii 64
1179 c MCP049 Mucopolysaccharidosis, Type Vii 64
1180 c MCP024 Mucopolysaccharidosis Type Vi 61
1181 c MCP004 Mucopolysaccharidosis Iv 60
1182 c MCP001 Mucopolysaccharidosis Iii 56
1183 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 53
1184 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1185 c MCP044 Mucopolysaccharidosis, Type Iiib 45
1186 RHY001 Rhyns Syndrome 44
1187 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40
1188 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 35
1189 c MCP045 Mucopolysaccharidosis, Type Iiic 35
1190 RHM009 Rheumatoid Lung Disease 34
1191 c MCP046 Mucopolysaccharidosis, Type Iiid 32
1192 c MCP048 Mucopolysaccharidosis, Type Ivb 32
1193 c BRC047 Bruck Syndrome 1 28
1194 GRR002 Gurrieri Syndrome 25
1195 BMR003 Beemer Ertbruggen Syndrome 10
1196 RVS001 Revesz Syndrome 39
1197 ACR002 Acrocapitofemoral Dysplasia 25
1198 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 20
1199 BRC095 Brachydactyly, Mononen Type 18
1200 WDM002 Wiedemann Oldigs Oppermann Syndrome 16
1201 BNP001 Bone Peripheral Neuroepithelioma 10
1202 PNT007 Penttinen-Aula Syndrome 9
1203 c THN010 Thanatophoric Dysplasia, Type Ii 51
1204 P PLG001 Pelger-Huet Anomaly 48
1205 SYN031 Synovial Chondromatosis 47
1206 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 36
1207 P SNG014 Singleton-Merten Syndrome 30
1208 c ACR044 Acroosteolysis Dominant Type 29
1209 SCR025 Scarf Syndrome 26
1210 c SNG011 Singleton-Merten Syndrome 1 23
1211 c BRC048 Bruck Syndrome 2 22
1212 GRN016 Grant Syndrome 21
1213 VNB004 Van Buchem Disease, Type 2 17
1214 c SNG012 Singleton-Merten Syndrome 2 17
1215 c PSD024 Pseudo Pelger-Huet Anomaly 11
1216 BTT012 Battaglia-Neri Syndrome 9
1217 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
1218 RBR001 Roberts Syndrome 55
1219 SPN041 Spinal Cord Disease 54
1220 RHM014 Rheumatoid Vasculitis 40
1221 12Q002 12q14 Microdeletion Syndrome 31
1222 BNM005 Bone Marrow Necrosis 26
1223 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
1224 c CMR006 Camurati-Engelmann Disease, Type 2 21
1225 BRC018 Brachioskeletogenital Syndrome 19
1226 SHR023 Short Stature Syndrome, Brussels Type 19
1227 VND003 Van Den Bosch Syndrome 15
1228 2Q3001 2q37 Deletion Syndrome 14
1229 HNT009 Hunter-Mcalpine Syndrome 13
1230 MGC006 Magic Syndrome 13
1231 PTT018 Petit-Fryns Syndrome 12
1232 VRL015 Verloes Van Maldergem Marneffe Syndrome 10
1233 RZN001 Rozin Hertz Goodman Syndrome 7
1234 SRC014 Sarcoma 68
1235 CNT060 Central Serous Chorioretinopathy 45
1236 3MC001 3mc Syndrome 2 29
1237 IMM073 Immunoglobulin a Vasculitis 28
1238 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22
1239 P CLL020 Collagenopathy Type 2 Alpha 1 20
1240 c SPS042 Spastic Paraplegia 9 19
1241 ATP003 Atp6v0a2-Related Cutis Laxa 18
1242 ULN007 Ulna Metaphyseal Dysplasia Syndrome 18
1243 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 16
1244 BNK001 Banki Syndrome 14
1245 PRM291 Premature Aging Syndrome, Okamoto Type 14
1246 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 14
1247 VNB002 Van Bogaert-Hozay Syndrome 13
1248 DGH001 Doughnut Lesions of Skull, Familial 13
1249 ANP010 Anaplastic Plasmacytoma 11
1250 VRL014 Verloes Bourguignon Syndrome 11
1251 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
1252 FYP001 Faye-Petersen-Ward-Carey Syndrome 10
1253 MGR005 Megarbane Syndrome 9
1254 PNS013 Panostotic Fibrous Dysplasia 8
1255 SKL009 Skeletal Dysplasia, San Diego Type 8
1256 CTK001 Cote Katsantoni Syndrome 7
1257 SKL024 Skeletal-Extraskeletal Angiomatosis 7
1258 c CLL016 Collagenopathy, Types Ii and Xi 7
1259 CRT006 Cartilage Cancer 6
1260 MCH009 Michels Caskey Syndrome 6
1261 RCH003 Richieri Costa Da Silva Syndrome 6
1262 TRC050 Tricho-Dento-Osseous Syndrome 1 6
1263 HKF001 Ho Kaufman Mcalister Syndrome 6
1264 THD001 Theodor Hertz Goodman Syndrome 5
1265 PNT008 Pointer Syndrome 5
1266 KZL005 Kozlowski Warren Fisher Syndrome 5
1267 ALS004 Alsing Syndrome 5
1268 CHT003 Chitty Hall Webb Syndrome 4
1269 SND004 Sandhaus Ben-Ami Syndrome 4
1270 SLV009 Slavotinek Pike Mills Hurst Syndrome 4
1271 VGN025 Vagneur Triolle Ripert Syndrome 4
1272 RGN002 Reginato Shiapachasse Syndrome 3
1273 LCK002 Lockwood Feingold Syndrome 3
1274 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 3
1275 CRT026 Cartilaginous Cancer 3
1276 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 3
1277 c SYS001 Systemic Lupus Erythematosus 86
1278 P FNC027 Fanconi Anemia, Complementation Group a 78
1279 MRF001 Marfan Syndrome 75
1280 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1281 CRZ001 Crouzon Syndrome 71
1282 APR006 Apert Syndrome 69
1283 P LPS004 Lupus Erythematosus 69
1284 SCH036 Scheie Syndrome 68
1285 BHC003 Behcet Syndrome 68
1286 P PRT008 Proteus Syndrome 67
1287 TKY002 Takayasu Arteritis 66
1288 P CRN015 Cornelia De Lange Syndrome 65
1289 ADL030 Adult-Onset Still's Disease 65
1290 FBR011 Fibrodysplasia Ossificans Progressiva 64
1291 INC002 Inclusion Body Myositis 64
1292 P PNC044 Pancreatitis 64
1293 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1294 P CLD001 Cleidocranial Dysplasia 63
1295 HTC003 Hutchinson-Gilford Progeria Syndrome 62
1296 CHR619 Chromosome 2q35 Duplication Syndrome 62
1297 c ACT027 Acute Pancreatitis 61
1298 P TRC072 Treacher Collins Syndrome 1 61
1299 ELL001 Ellis-Van Creveld Syndrome 61
1300 c PNC108 Pancreatitis, Hereditary 60
1301 SPT004 Septic Arthritis 60
1302 SPN008 Spondyloepiphyseal Dysplasia Congenita 60
1303 MNK003 Muenke Syndrome 60
1304 P FCS002 Fucosidosis 59
1305 P HYP035 Hypophosphatasia 58
1306 MCR088 Microscopic Polyangiitis 58
1307 HMF006 Hemifacial Microsomia 58
1308 P HLL001 Hallermann-Streiff Syndrome 58
1309 c MCL062 Mucolipidosis Ii Alpha/beta 58
1310 ANT009 Antithrombin Iii Deficiency 58
1311 MVL001 Mevalonic Aciduria 57
1312 ASP002 Aspartylglucosaminuria 57
1313 P PLY041 Polymyositis 57
1314 c CRP023 Carpenter Syndrome 1 57
1315 HYP042 Hypochondroplasia 57
1316 P OCL013 Oculodentodigital Dysplasia 57
1317 ERD001 Erdheim-Chester Disease 57
1318 P STC001 Stickler Syndrome 56
1319 c FML116 Familial Cold Autoinflammatory Syndrome 1 56
1320 P STS008 Sotos Syndrome 1 56
1321 RLP001 Relapsing Polychondritis 55
1322 P SCK004 Seckel Syndrome 55
1323 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
1324 HRL003 Hurler Syndrome 55
1325 SCH002 Schnitzler Syndrome 54
1326 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54
1327 ERY017 Erythema Elevatum Diutinum 54
1328 SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
1329 ACR011 Acromesomelic Dysplasia, Maroteaux Type 54
1330 MLT135 Multiple Sulfatase Deficiency 54
1331 CLC001 Calciphylaxis 53
1332 c ACH041 Achondrogenesis, Type Ii 53
1333 GLC012 Galactosialidosis 53
1334 CGN006 Cogan Syndrome 53
1335 GRG001 Greig Cephalopolysyndactyly Syndrome 53
1336 P CRN108 Cranioectodermal Dysplasia 1 53
1337 ACR013 Acrodysostosis 53
1338 ESN015 Eosinophilic Fasciitis 52
1339 c GNG001 Gangliosidosis Gm1 52
1340 P ADM011 Adams-Oliver Syndrome 52
1341 SPN020 Spondylosis 52
1342 PSD012 Pseudoachondroplasia 52
1343 P MNN019 Mannosidosis, Beta a, Lysosomal 52
1344 c ORF037 Orofaciodigital Syndrome I 51
1345 P PLY017 Polyarteritis Nodosa 51
1346 BLL001 Baller-Gerold Syndrome 51
1347 P PRX021 Proximal Symphalangism 51
1348 MLT145 Multiple Enchondromatosis, Maffucci Type 51
1349 PYC001 Pycnodysostosis 51
1350 CFF003 Caffey Disease 51
1351 c MCL046 Mucolipidosis Iii Alpha/beta 50
1352 ULN003 Ulnar-Mammary Syndrome 50
1353 P WLL002 Weill-Marchesani Syndrome 50
1354 P FBR025 Fibrochondrogenesis 50
1355 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 49
1356 PYL017 Pyle Disease 49
1357 HYP088 Hyper-Igd Syndrome 49
1358 CTY001 Cat Eye Syndrome 49
1359 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1360 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1361 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1362 c BRC078 Brachydactyly, Type A1 49
1363 c SPL024 Split-Hand/foot Malformation 3 49
1364 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48
1365 YNS002 Yunis-Varon Syndrome 48
1366 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
1367 c AMY009 Amyloidosis Aa 48
1368 JCK001 Jackson-Weiss Syndrome 48
1369 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48
1370 P CRN013 Craniodiaphyseal Dysplasia 48
1371 P LRS001 Larsen Syndrome 47
1372 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47
1373 NRM019 Neuraminidase Deficiency 47
1374 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46
1375 P ORF001 Orofaciodigital Syndrome 46
1376 P SCL048 Sclerosteosis 46
1377 SHR098 Short-Rib Thoracic Dysplasia 12 46
1378 CRN005 Craniofrontonasal Syndrome 46
1379 VTM027 Vitamin D-Dependent Rickets, Type 2a 46
1380 P MLT072 Multiple Synostoses Syndrome 46
1381 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1382 ANT039 Antisynthetase Syndrome 46
1383 c ACH042 Achondrogenesis, Type Ib 46
1384 c CRN139 Cornelia De Lange Syndrome 1 46
1385 c ACH033 Achondrogenesis, Type Ia 46
1386 c CHL140 Chilblain Lupus 1 46
1387 CNN011 Cenani-Lenz Syndactyly Syndrome 45
1388 c BRC079 Brachydactyly, Type A2 45
1389 P OTS002 Otospondylomegaepiphyseal Dysplasia 45
1390 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44
1391 PST049 Postaxial Acrofacial Dysostosis 44
1392 P CPL003 Capillary Leak Syndrome 44
1393 P PRV002 Periventricular Nodular Heterotopia 44
1394 P ACH011 Achondrogenesis 44
1395 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 44
1396 MCR225 Macrophage Activation Syndrome 44
1397 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
1398 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44
1399 HND004 Hand-Foot-Genital Syndrome 44
1400 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 44
1401 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1402 c ORF034 Orofaciodigital Syndrome Vi 43
1403 c ATS082 Autosomal Dominant Robinow Syndrome 43
1404 P CHN044 Chondrodysplasia Punctata Syndrome 43
1405 c PLY147 Polydactyly, Postaxial, Type A1 43
1406 P FRN012 Frontometaphyseal Dysplasia 43
1407 MLR003 Melorheostosis 43
1408 c RCR022 Recurrent Acute Pancreatitis 43
1409 c LRS002 Larsen-Like Syndrome 42
1410 PYM001 Pyomyositis 42
1411 P SYN012 Synpolydactyly 42
1412 CRR002 Currarino Syndrome 41
1413 c SPN330 Spondylocostal Dysostosis 5 41
1414 c GM1004 Gm1-Gangliosidosis, Type I 41
1415 SPN060 Spondylocarpotarsal Synostosis Syndrome 41
1416 LRW001 Leri-Weill Dyschondrosteosis 41
1417 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
1418 P SPL061 Split Hand-Foot Malformation 41
1419 FBL002 Fibular Hypoplasia and Complex Brachydactyly 40
1420 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 40
1421 TTR025 Tetraamelia Syndrome, Autosomal Recessive 40
1422 ACH001 Acheiropody 40
1423 HRL004 Hurler-Scheie Syndrome 40
1424 P FRN036 Frontonasal Dysplasia 1 39
1425 c GM2005 Gm2-Gangliosidosis, Ab Variant 39
1426 HYP776 Hyperparathyroidism, Neonatal Severe 39
1427 PLY112 Polyarteritis Nodosa, Childhood-Onset 39
1428 DPH019 Diaphanospondylodysostosis 39
1429 ATN011 Autoinflammation with Infantile Enterocolitis 39
1430 OPS002 Opsismodysplasia 38
1431 STV003 Stuve-Wiedemann Syndrome 38
1432 ACR041 Acromelic Frontonasal Dysostosis 38
1433 c OTP007 Otopalatodigital Syndrome, Type Ii 38
1434 c BRC081 Brachydactyly, Type C 38
1435 XNT009 Xanthoma Disseminatum 38
1436 c ADM005 Adams-Oliver Syndrome 1 38
1437 PRK003 Parkes Weber Syndrome 38
1438 c OTP006 Otopalatodigital Syndrome, Type I 38
1439 c BRC051 Brachydactyly, Type B1 37
1440 TRS002 Tarsal-Carpal Coalition Syndrome 37
1441 c SYN061 Syndactyly, Type Iv 37
1442 P ANX007 Anauxetic Dysplasia 1 36
1443 c GM1005 Gm1-Gangliosidosis, Type Ii 36
1444 DYS048 Dysplasia Epiphysealis Hemimelica 36
1445 P SMT022 Smith-Mccort Dysplasia 1 36
1446 P SYN059 Syndactyly, Type V 36
1447 c STC015 Stickler Syndrome, Type I 36
1448 WYR002 Weyers Acrofacial Dysostosis 36
1449 CHN057 Chondrodysplasia, Grebe Type 36
1450 c BRC109 Brachydactyly, Type E1 35
1451 DSM002 Desmosterolosis 35
1452 c SYS061 Systemic Lupus Erythematosus 16 35
1453 TNS014 Tenosynovitis 35
1454 P GNG010 Gangliosidosis Gm2 35
1455 MTT002 Metatropic Dysplasia 35
1456 LRN006 Laurin-Sandrow Syndrome 35
1457 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 35
1458 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 35
1459 P CRB154 Cerebrocostomandibular Syndrome 35
1460 PSR016 Psoriatic Juvenile Idiopathic Arthritis 35
1461 CTL005 Catel-Manzke Syndrome 35
1462 c MLT059 Multiple Synostoses Syndrome 1 34
1463 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34
1464 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
1465 LNG040 Langer Mesomelic Dysplasia 34
1466 FMR018 Femoral-Facial Syndrome 34
1467 PLS030 Plasminogen Deficiency, Type I 33
1468 ACR016 Acromesomelic Dysplasia 33
1469 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 33
1470 MLG141 Malignant Atrophic Papulosis 33
1471 c SYS007 Systemic Capillary Leak Syndrome 33
1472 P MTP005 Metaphyseal Anadysplasia 33
1473 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 33
1474 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33
1475 c FNC028 Fanconi Anemia, Complementation Group L 32
1476 CLL036 Culler-Jones Syndrome 32
1477 TTH001 Tooth Ankylosis 32
1478 c WLL036 Weill-Marchesani Syndrome 1 32
1479 SCH030 Schneckenbecken Dysplasia 32
1480 c PLY148 Polydactyly, Preaxial Ii 32
1481 c SYS043 Systemic Lupus Erythematosus 1 32
1482 ACR099 Acrofacial Dysostosis, Catania Type 31
1483 HYP596 Hypophosphatasia, Childhood 31
1484 P EHL081 Ehlers-Danlos Syndrome, Classic-Like 31
1485 c FRN049 Frontometaphyseal Dysplasia 1 31
1486 DYG001 Dyggve-Melchior-Clausen Disease 31
1487 HMF010 Hemifacial Microsomia with Radial Defects 31
1488 c STC013 Stickler Syndrome, Type Ii 31
1489 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 31
1490 HMR015 Humeroradial Synostosis 31
1491 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 30
1492 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 30
1493 c PRV019 Periventricular Nodular Heterotopia 1 30
1494 NRG003 Neurogenic Arthropathy 30
1495 SPN348 Spondylometaphyseal Dysplasia, Axial 30
1496 SPN154 Spondyloperipheral Dysplasia 30
1497 c WLL037 Weill-Marchesani Syndrome 2 30
1498 c GM1006 Gm1-Gangliosidosis, Type Iii 30
1499 PLY135 Polydactyly, Postaxial, with Progressive Myopia 30
1500 c SCK009 Seckel Syndrome 1 30
1501 CLV004 Calvarial Hyperostosis 29
1502 WLD004 Wildervanck Syndrome 29
1503 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
1504 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 29
1505 MSM004 Mesomelia-Synostoses Syndrome 29
1506 CTN019 Cutaneous Polyarteritis Nodosa 29
1507 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1508 c FRN048 Frontometaphyseal Dysplasia 2 29
1509 SHR108 Short Stature, Idiopathic, X-Linked 29
1510 P XLN161 X-Linked Chondrodysplasia Punctata 29
1511 FRN022 Frontofacionasal Dysplasia 29
1512 LMB008 Limb-Mammary Syndrome 29
1513 DYS045 Dysosteosclerosis 28
1514 TBL008 Tibial Hemimelia 28
1515 MTC018 Metachondromatosis 28
1516 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 28
1517 FBR089 Fibrosclerosis, Multifocal 28
1518 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1519 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
1520 MTP028 Metaphyseal Dysplasia, Spahr Type 28
1521 UND007 Undifferentiated Connective Tissue Disease 28
1522 KLB005 Kleeblattschaedel 28
1523 c SCK011 Seckel Syndrome 5 28
1524 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
1525 FBR028 Fibrosing Mediastinitis 28
1526 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 28
1527 EF001 Eaf 27
1528 c PLY149 Polydactyly, Preaxial Iv 27
1529 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 27
1530 VSC050 Vascular Malformation, Primary Intraosseous 27
1531 c FNC023 Fanconi Anemia, Complementation Group N 27
1532 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
1533 TRC118 Trichodentoosseous Syndrome 27
1534 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 27
1535 c CRN134 Cornelia De Lange Syndrome 2 27
1536 FML307 Familial Calcium Pyrophosphate Deposition 27
1537 c SYN060 Syndactyly, Type Iii 27
1538 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
1539 c BRC045 Brachyolmia Type 3 27
1540 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 26
1541 WSM003 Weismann-Netter Syndrome 26
1542 SYN086 Synostoses, Tarsal, Carpal, and Digital 26
1543 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 26
1544 HYP682 Hypertelorism, Teebi Type 26
1545 NCR009 Necrobiotic Xanthogranuloma 26
1546 c SCK010 Seckel Syndrome 4 26
1547 HYP648 Hypertension and Brachydactyly Syndrome 26
1548 c PRT063 Proteus-Like Syndrome 26
1549 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 26
1550 c CRP022 Carpenter Syndrome 2 26
1551 c DNT021 Dent Disease 2 26
1552 PSD030 Pseudodiastrophic Dysplasia 26
1553 STN012 Sting-Associated Vasculopathy, Infantile-Onset 26
1554 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
1555 c FNC046 Fanconi Anemia, Complementation Group P 25
1556 CHR588 Chromosome 8q22.1 Duplication Syndrome 25
1557 NVR001 Nievergelt Syndrome 25
1558 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 25
1559 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
1560 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1561 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 25
1562 c CRN109 Cranioectodermal Dysplasia 2 25
1563 c FNC029 Fanconi Anemia, Complementation Group I 25
1564 DGT005 Digital Arthropathy-Brachydactyly, Familial 25
1565 TMP008 Tempi Syndrome 25
1566 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 25
1567 PRS051 Parastremmatic Dwarfism 25
1568 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 25
1569 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
1570 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 25
1571 RMR001 Ramer Ladda Syndrome 24
1572 c SMT018 Smith-Mccort Dysplasia 2 24
1573 c ORF036 Orofaciodigital Syndrome Xiv 24
1574 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1575 c WLL011 Weill-Marchesani-Like Syndrome 24
1576 c FNC047 Fanconi Anemia, Complementation Group Q 24
1577 PRP090 Peripheral Dysostosis 24
1578 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
1579 HSH001 Hashimoto-Pritzker Syndrome 24
1580 c CRN221 Craniosynostosis 4 24
1581 c CRN111 Cranioectodermal Dysplasia 4 24
1582 c SCK015 Seckel Syndrome 2 24
1583 c STS007 Sotos Syndrome 2 24
1584 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23
1585 FMR016 Femur-Fibula-Ulna Syndrome 23
1586 BRN123 Branchial Arch Syndrome, X-Linked 23
1587 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 23
1588 AMN014 Aminopterin Syndrome Sine Aminopterin 23
1589 TBS009 Teebi-Shaltout Syndrome 23
1590 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 23
1591 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
1592 c CRN209 Cornelia De Lange Syndrome 5 23
1593 SYM024 Symphalangism, Distal 23
1594 c MLT060 Multiple Synostoses Syndrome 2 23
1595 OSB001 Osebold-Remondini Syndrome 23
1596 c CRN110 Cranioectodermal Dysplasia 3 23
1597 c SYM022 Symphalangism, Proximal, 1a 23
1598 c FBR029 Fibrochondrogenesis 1 23
1599 c ADM007 Adams-Oliver Syndrome 2 23
1600 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23
1601 OCL040 Oculomaxillofacial Dysostosis 23
1602 c ORF045 Orofaciodigital Syndrome Xv 22
1603 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1604 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 22
1605 AKL001 Au-Kline Syndrome 22
1606 c ADM010 Adams-Oliver Syndrome 5 22
1607 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 22
1608 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 22
1609 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1610 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1611 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
1612 c WLL038 Weill-Marchesani Syndrome 3 22
1613 c SCK029 Seckel Syndrome 7 22
1614 c FNC048 Fanconi Anemia, Complementation Group O 22
1615 c FML117 Familial Cold Autoinflammatory Syndrome 2 22
1616 c PLY136 Polydactyly, Preaxial I 22
1617 ACR019 Acropectoral Syndrome 22
1618 c CRN215 Cornelia De Lange Syndrome 4 22
1619 c ADM012 Adams-Oliver Syndrome 6 22
1620 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22
1621 c SCK038 Seckel Syndrome 10 22
1622 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 21
1623 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1624 c BRC099 Brachydactyly, Type A4 21
1625 c CRN135 Cornelia De Lange Syndrome 3 21
1626 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 21
1627 c FNC025 Fanconi Anemia, Complementation Group J 21
1628 ACR107 Acrofacial Dysostosis, Palagonia Type 21
1629 c ADM009 Adams-Oliver Syndrome 4 21
1630 SCH031 Scholte Syndrome 21
1631 c PRV018 Periventricular Nodular Heterotopia 7 21
1632 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 21
1633 c ORF046 Orofaciodigital Syndrome Xvi 21
1634 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
1635 SMM003 Summitt Syndrome 21
1636 c FNC057 Fanconi Anemia, Complementation Group U 21
1637 P FML337 Familial Chilblain Lupus 21
1638 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21
1639 c MLT078 Multiple Synostoses Syndrome 3 20
1640 KNS006 Kniest-Like Dysplasia, Lethal 20
1641 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
1642 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1643 c SCK037 Seckel Syndrome 9 20
1644 c FNC058 Fanconi Anemia, Complementation Group R 20
1645 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 20
1646 c FNC052 Fanconi Anemia, Complementation Group T 20
1647 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1648 THR032 Thoracolaryngopelvic Dysplasia 20
1649 c ADM008 Adams-Oliver Syndrome 3 20
1650 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
1651 c FNC056 Fanconi Anemia, Complementation Group V 20
1652 c SCK033 Seckel Syndrome 8 20
1653 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 19
1654 c SYS038 Systemic Lupus Erythematosus 2 19
1655 TBT001 Tabatznik Syndrome 19
1656 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 19
1657 c TRC071 Treacher Collins Syndrome 3 19
1658 ULN005 Ulna and Fibula, Hypoplasia of 19
1659 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
1660 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1661 c FBR030 Fibrochondrogenesis 2 19
1662 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 19
1663 c ANX008 Anauxetic Dysplasia 2 19
1664 THR033 Thoracomelic Dysplasia 19
1665 HMR016 Humeroradioulnar Synostosis 19
1666 MTC100 Metacarpal 4-5 Fusion 19
1667 BRC100 Brachydactyly, Combined B and E Types 19
1668 DYS180 Dyschondrosteosis and Nephritis 18
1669 c TRC073 Treacher Collins Syndrome 2 18
1670 c PRV016 Periventricular Nodular Heterotopia 6 18
1671 SPN349 Spondylometaphyseal Dysplasia, Type A4 18
1672 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
1673 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 18
1674 ADC008 Adactylia, Unilateral 18
1675 APH015 Aphalangy with Hemivertebrae 18
1676 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 18
1677 SPN353 Spondylometaphyseal Dysplasia, X-Linked 18
1678 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 18
1679 DYS049 Dysplastic Cortical Hyperostosis 18
1680 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18
1681 IGG016 Igg4-Related Dacryoadenitis and Sialadenitis 18
1682 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18
1683 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 17
1684 OCL030 Oculoauriculofrontonasal Syndrome 17
1685 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 17
1686 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 17
1687 OTN001 Otoonychoperoneal Syndrome 17
1688 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17
1689 SGR001 Sugarman Brachydactyly 17
1690 CMP016 Camptobrachydactyly 17
1691 c PLY137 Polydactyly, Preaxial Iii 17
1692 RDL030 Radial-Renal Syndrome 17
1693 THR120 Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency 17
1694 PLY132 Polysyndactyly, Crossed 17
1695 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
1696 c SYS069 Systemic Lupus Erythematosus 6 17
1697 SCL051 Scalp Defects and Postaxial Polydactyly 17
1698 CHR159 Charlie M Syndrome 17
1699 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 17
1700 MMB012 Membranous Cranial Ossification, Delayed 17
1701 c STS009 Sotos Syndrome 3 17
1702 c JVN046 Juvenile Polymyositis 17
1703 c SCK032 Seckel Syndrome 6 17
1704 c SYM019 Symphalangism, Proximal, 1b 16
1705 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1706 CLD006 Cleidorhizomelic Syndrome 16
1707 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 16
1708 GNC010 Genochondromatosis 16
1709 LNG102 Long-Thumb Brachydactyly Syndrome 16
1710 c FNC061 Fanconi Anemia, Complementation Group W 16
1711 TTR010 Tetramelic Monodactyly 16
1712 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1713 c FML270 Familial Cold Autoinflammatory Syndrome 4 16
1714 c CHL114 Chilblain Lupus 2 16
1715 HRR003 Herrmann Opitz Craniosynostosis 16
1716 CXR001 Coxoauricular Syndrome 16
1717 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
1718 c SYS040 Systemic Lupus Erythematosus 10 16
1719 c PLY163 Polydactyly, Postaxial, Type A2 16
1720 SPN120 Spondylocamptodactyly 16
1721 ECT086 Ectrodactyly-Polydactyly 16
1722 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 16
1723 c PLY103 Polydactyly, Postaxial, Type A5 15
1724 SVR099 Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency 15
1725 PST104 Postaxial Oligodactyly, Tetramelic 15
1726 CHN027 Chondrodysplasia Lethal Recessive 15
1727 c CLD018 Cleidocranial Dysplasia, Recessive Form 15
1728 AST010 Astley-Kendall Syndrome 15
1729 c SYS053 Systemic Lupus Erythematosus 5 15
1730 c SYS041 Systemic Lupus Erythematosus 9 15
1731 DRG017 Drug-Induced Vasculitis 15
1732 c PLY101 Polydactyly, Postaxial, Type A6 14
1733 GGN006 Gigantiform Cementoma, Familial 14
1734 c MTP014 Metaphyseal Anadysplasia 2 14
1735 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1736 ACR027 Acrodysplasia Scoliosis 14
1737 P PRX038 Preaxial Polydactyly of Toes 14
1738 c SYS046 Systemic Lupus Erythematosus 3 14
1739 TRC112 Trochlea of the Humerus, Aplasia of 14
1740 c SYS065 Systemic Lupus Erythematosus 11 14
1741 c SYS055 Systemic Lupus Erythematosus 12 14
1742 c PLY144 Polydactyly, Postaxial, Type A7 14
1743 c ORF039 Orofaciodigital Syndrome Vii 13
1744 c SYS051 Systemic Lupus Erythematosus 4 13
1745 c PLY054 Polydactyly, Postaxial, Type A4 13
1746 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 13
1747 NNT044 Neonatal Antiphospholipid Syndrome 12
1748 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 12
1749 c ATM063 Autoimmune Pancreatitis Type 2 12
1750 IGG012 Igg4-Related Submandibular Gland Disease 12
1751 CRN087 Craniomicromelic Syndrome 12
1752 c SYS045 Systemic Lupus Erythematosus 14 11
1753 c SYS052 Systemic Lupus Erythematosus 13 11
1754 c SYS048 Systemic Lupus Erythematosus 8 11
1755 c SYS047 Systemic Lupus Erythematosus 7 11
1756 c SYS067 Systemic Lupus Erythematosus 15 11
1757 c PLY053 Polydactyly, Postaxial, Type A3 11
1758 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 11
1759 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1760 P PST079 Postaxial Polydactyly of Toes 10
1761 UNC016 Unclassified Vasculitis 10
1762 IGG017 Igg4-Related Hepatopathy 10
1763 CND008 Condensing Osteitis of the Clavicle 10
1764 c HLL012 Hallermann-Streiff-Like Syndrome 10
1765 c EHL035 Ehlers-Danlos Syndrome, Kyphoscoliotic Form 9
1766 NNT046 Neonatal Dermatomyositis 9
1767 c EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 9
1768 DBR003 Dobrow Syndrome 9
1769 MLH001 Melhem Fahl Syndrome 8
1770 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 8
1771 WBS001 Webster Deming Syndrome 8
1772 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
1773 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
1774 c FCS008 Fucosidosis Type 1 8
1775 BNL004 Benallegue Lacete Syndrome 8
1776 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
1777 NNT043 Neonatal Scleroderma 7
1778 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
1779 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1780 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1781 PST098 Postinfectious Vasculitis 5
1782 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 5
1783 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
1784 P SYC001 Say Carpenter Syndrome 5
1785 c OCL037 Oculodentodigital Dysplasia Dominant 4
1786 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 53
1787 SHW002 Shwachman-Diamond Syndrome 63
1788 APL001 Aplastic Anemia 74
1789 P DNT011 Dentinogenesis Imperfecta 47
1790 P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 50
1791 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 30
1792 PRM288 Permanent Molars, Secondary Retention of 23
1793 KSK002 Kosaki Overgrowth Syndrome 23
1794 BSL036 Basal Cell Nevus Syndrome 67
1795 P NTR004 Neutropenia 60
1796 c SVR003 Severe Congenital Neutropenia 58
1797 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 36
1798 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 32
1799 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32
1800 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 29
1801 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 21
1802 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 21
1803 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 20
1804 c NTR045 Neutropenia, Chronic Familial 18
1805 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 17
1806 ACH018 Achondroplasia and Severe Combined Immunodeficiency 7
1807 PMS001 Poems Syndrome 64
1808 CMP075 Campomelia, Cumming Type 27
1809 MNS016 Monosomy 7 of Bone Marrow 24
1810 CRN070 Corneodermatoosseous Syndrome 23
1811 P FML048 Familial Avascular Necrosis of the Femoral Head 17
1812 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
1813 P DST002 Distal Arthrogryposis 57
1814 c ORF040 Orofaciodigital Syndrome Viii 53
1815 c ART119 Arthrogryposis, Distal, Type 5 49
1816 c ART120 Arthrogryposis, Distal, Type 3 47
1817 c ART144 Arthrogryposis, Distal, Type 1a 46
1818 c ART061 Arthrogryposis, Distal, Type 2a 45
1819 3MC003 3mc Syndrome 42
1820 c ART146 Arthrogryposis, Distal, Type 9 41
1821 c ART147 Arthrogryposis, Distal, Type 7 35
1822 c ORF035 Orofaciodigital Syndrome Iv 34
1823 MND001 Mandibular Cancer 30
1824 c ART104 Arthrogryposis, Distal, Type 5d 28
1825 c ORF033 Orofaciodigital Syndrome V 27
1826 c ART112 Arthrogryposis, Distal, Type 10 26
1827 c ORF038 Orofaciodigital Syndrome Iii 25
1828 c ART122 Arthrogryposis, Distal, Type 8 24
1829 c ORF043 Orofaciodigital Syndrome Ix 24
1830 c ART128 Arthrogryposis, Distal, Type 6 23
1831 c ORF041 Orofaciodigital Syndrome X 23
1832 c ART131 Arthrogryposis, Distal, Type 4 22
1833 c ORF042 Orofaciodigital Syndrome Xi 21
1834 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21
1835 c ART060 Arthrogryposis, Distal, Type 1b 20
1836 THY064 Thyroid Hormone Metabolism, Abnormal 19
1837 ARC009 Auriculoosteodysplasia 17
1838 c DNT047 Dentinogenesis Imperfecta Type 2 17
1839 c ART054 Arthrogryposis, Distal, Type 2e 16
1840 c ORF006 Orofaciodigital Syndrome 13 14
1841 c ORF005 Orofaciodigital Syndrome 12 14
1842 MXL001 Maxillary Neoplasm 11
1843 SCK003 Sickle Cell Anemia 73
1844 P FML018 Familial Mediterranean Fever 73
1845 KWS002 Kawasaki Disease 72
1846 WGN006 Wegener Granulomatosis 71
1847 P SYS005 Systemic Scleroderma 67
1848 P TMP003 Temporal Arteritis 67
1849 MXD005 Mixed Connective Tissue Disease 66
1850 c LCL006 Localized Scleroderma 66
1851 P DRM010 Dermatomyositis 65
1852 RCT015 Reactive Arthritis 65
1853 STH001 Saethre-Chotzen Syndrome 64
1854 P SRC025 Sarcoidosis 1 63
1855 RCK004 Rickets 63
1856 CNC002 Cinca Syndrome 62
1857 P MCK013 Meckel Syndrome, Type 1 62
1858 P GCH001 Gaucher's Disease 62
1859 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1860 P FBR017 Fibrosarcoma 61
1861 c SCL052 Scleroderma, Familial Progressive 60
1862 c HRD002 Hereditary Angioedema 59
1863 PRD013 Periodic Fever, Familial, Autosomal Dominant 59
1864 UND005 Undifferentiated Pleomorphic Sarcoma 59
1865 LCR014 Lacrimoauriculodentodigital Syndrome 59
1866 P CRN038 Carney Complex Variant 59
1867 THR009 Thrombocytopenia-Absent Radius Syndrome 58
1868 CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 58
1869 c GCH015 Gaucher Disease, Type I 57
1870 P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56
1871 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55
1872 P DNT020 Dent Disease 1 55
1873 CHL028 Childhood Type Dermatomyositis 55
1874 PYD001 Pyoderma Gangrenosum 55
1875 P FML052 Familial Cold Autoinflammatory Syndrome 55
1876 P TRC086 Trichohepatoenteric Syndrome 1 54
1877 c INF071 Inflammatory Bowel Disease 1 54
1878 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53
1879 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53
1880 DFF035 Diffuse Cutaneous Systemic Sclerosis 53
1881 HYP074 Hypersensitivity Vasculitis 52
1882 P INF037 Inflammatory Bowel Disease 52
1883 TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50
1884 P BRT029 Brittle Cornea Syndrome 2 50
1885 PLN006 Poland Syndrome 50
1886 RYS001 Reye Syndrome 50
1887 c RBN021 Rubinstein-Taybi Syndrome 1 50
1888 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50
1889 P FML068 Familial Hypocalciuric Hypercalcemia 49
1890 ADL002 Adult Syndrome 48
1891 SND002 Sneddon Syndrome 48
1892 KMR001 Kimura Disease 48
1893 LKC005 Leukocyte Adhesion Deficiency, Type Iii 47
1894 RYN003 Reynolds Syndrome 47
1895 c GCH017 Gaucher Disease, Type Iii 47
1896 LMT001 Limited Scleroderma 47
1897 MLT016 Multicentric Reticulohistiocytosis 47
1898 FML091 Familial Tumoral Calcinosis 46
1899 c GCH016 Gaucher Disease, Type Ii 45
1900 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
1901 c PSR021 Psoriasis 14, Pustular 44
1902 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
1903 P MRG008 Meier-Gorlin Syndrome 1 42
1904 c ADL027 Adult Dermatomyositis 41
1905 HYL004 Hyaline Fibromatosis Syndrome 40
1906 P AMY084 Amyloidosis, Finnish Type 40
1907 c SPL067 Split-Hand/foot Malformation 1 40
1908 P PST059 Pustular Psoriasis 40
1909 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 40
1910 RPD002 Rapadilino Syndrome 39
1911 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1912 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1913 HYP193 Hypocomplementemic Urticarial Vasculitis 38
1914 c CNG023 Congenital Fibrosarcoma 37
1915 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 37
1916 KKC001 Kikuchi Disease 37
1917 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 37
1918 P ISL078 Isolated Ectopia Lentis 37
1919 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37
1920 c ADL019 Adult Fibrosarcoma 37
1921 CRB193 Cerebral Amyloid Angiopathy, App-Related 36
1922 P MNT135 Mental Retardation, X-Linked, Syndromic 13 36
1923 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 36
1924 c CRN243 Carney Complex, Type 1 35
1925 WRN004 Wrinkly Skin Syndrome 35
1926 ARC008 Auriculo-Condylar Syndrome 34
1927 c INF086 Inflammatory Bowel Disease 3 34
1928 c TRC078 Trichohepatoenteric Syndrome 2 34
1929 DQR001 De Quervain Disease 33
1930 LYS018 Loeys-Dietz Syndrome 2 33
1931 ACR025 Acrocephalopolydactylous Dysplasia 33
1932 MHR002 Mohr Syndrome 33
1933 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
1934 c INF087 Inflammatory Bowel Disease 4 31
1935 SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 31
1936 c BRT028 Brittle Cornea Syndrome 1 31
1937 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31
1938 NTR042 Neutrophilic Dermatosis, Acute Febrile 31
1939 RFM001 Roifman Syndrome 31
1940 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 31
1941 FTL029 Fetal Thalidomide Syndrome 30
1942 c SRC023 Sarcoidosis 2 30
1943 IVC001 Ivic Syndrome 29
1944 c GCH013 Gaucher Disease, Type Iiic 29
1945 CSN001 Cousin Syndrome 28
1946 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
1947 c FML253 Familial Cold Autoinflammatory Syndrome 3 28
1948 GHS005 Ghosal Hematodiaphyseal Dysplasia 28
1949 c INF089 Inflammatory Bowel Disease 6 28
1950 P MNT319 Mental Retardation, Autosomal Dominant 20 28
1951 c INF092 Inflammatory Bowel Disease 9 27
1952 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 26
1953 c MNT185 Mental Retardation, Autosomal Dominant 7 26
1954 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 26
1955 c MCK033 Meckel Syndrome, Type 4 26
1956 c MNT212 Mental Retardation, Autosomal Dominant 26 26
1957 c MNT296 Mental Retardation, X-Linked, Syndromic 34 25
1958 c MNT210 Mental Retardation, Autosomal Recessive 42 25
1959 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
1960 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1961 c MCK032 Meckel Syndrome, Type 3 24
1962 c MCK030 Meckel Syndrome, Type 7 24
1963 c INF075 Inflammatory Bowel Disease 16 24
1964 c MNT145 Mental Retardation, Autosomal Recessive 5 24
1965 c MNT157 Mental Retardation, Autosomal Dominant 18 24
1966 JNT001 Joint Laxity, Familial 24
1967 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 24
1968 c MNT280 Mental Retardation, Autosomal Dominant 43 24
1969 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
1970 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 23
1971 c MCK031 Meckel Syndrome, Type 2 23
1972 c JVN019 Juvenile Temporal Arteritis 23
1973 c MNT143 Mental Retardation, Autosomal Dominant 13 23
1974 c MNT246 Mental Retardation, Autosomal Dominant 38 23
1975 c MNT241 Mental Retardation, Autosomal Dominant 32 23
1976 c MNT270 Mental Retardation, Autosomal Recessive 53 23
1977 c MNT298 Mental Retardation, X-Linked, Syndromic, 35 23
1978 c INF088 Inflammatory Bowel Disease 5 23
1979 c FML249 Familial Amyloidosis, Finnish Type 23
1980 c MRG010 Meier-Gorlin Syndrome 3 23
1981 c MCK034 Meckel Syndrome, Type 8 23
1982 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
1983 c INF078 Inflammatory Bowel Disease 2 22
1984 c MNT321 Mental Retardation, Autosomal Recessive 37 22
1985 c MNT214 Mental Retardation, Autosomal Dominant 24 22
1986 c MNT262 Mental Retardation, Autosomal Dominant 42 22
1987 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 22
1988 c MNT176 Mental Retardation, Autosomal Recessive 38 22
1989 c MNT322 Mental Retardation, Autosomal Dominant 27 22
1990 CRN104 Craniotelencephalic Dysplasia 22
1991 c MNT226 Mental Retardation, Autosomal Dominant 31 22
1992 c MNT213 Mental Retardation, Autosomal Recessive 40 22
1993 c MRG015 Meier-Gorlin Syndrome 7 22
1994 c MNT242 Mental Retardation, Autosomal Dominant 40 22
1995 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1996 c MNT150 Mental Retardation, Autosomal Recessive 15 22
1997 c MNT166 Mental Retardation, Autosomal Recessive 39 21
1998 c MCK026 Meckel Syndrome 12 21
1999 c MCK014 Meckel Syndrome, Type 5 21
2000 c MNT222 Mental Retardation, Autosomal Dominant 29 21
2001 c MNT273 Mental Retardation, Autosomal Dominant 44 21
2002 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
2003 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
2004 HRT018 Heart-Hand Syndrome, Slovenian Type 21
2005 c MCK012 Meckel Syndrome, Type 6 21
2006 c MNT221 Mental Retardation, Autosomal Recessive 44 21
2007 c INF072 Inflammatory Bowel Disease 11 21
2008 c MNT234 Mental Retardation, Autosomal Recessive 48 21
2009 EHL066 Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 21
2010 c MNT216 Mental Retardation, Autosomal Recessive 41 21
2011 c FML344 Familial Mediterranean Fever, Autosomal Dominant 21
2012 c MNT285 Mental Retardation, Autosomal Recessive 58 21
2013 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 21
2014 c MRG014 Meier-Gorlin Syndrome 6 21
2015 c MNT211 Mental Retardation, Autosomal Dominant 23 21
2016 SPN368 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 21
2017 c MNT159 Mental Retardation, Autosomal Dominant 19 20
2018 c MCK035 Meckel Syndrome, Type 10 20
2019 c INF077 Inflammatory Bowel Disease 19 20
2020 c MNT238 Mental Retardation, Autosomal Dominant 34 20
2021 c MNT197 Mental Retardation, X-Linked, Syndromic 9 20
2022 c MNT219 Mental Retardation, Autosomal Dominant 30 20
2023 c MNT287 Mental Retardation, Autosomal Recessive 57 20
2024 c MNT183 Mental Retardation, Autosomal Recessive 36 20
2025 c MNT227 Mental Retardation, Autosomal Recessive 46 20
2026 c MNT244 Mental Retardation, Autosomal Recessive 49 20
2027 c MCK036 Meckel Syndrome, Type 9 20
2028 c MNT177 Mental Retardation, Autosomal Recessive 27 20
2029 c MNT282 Mental Retardation, Autosomal Recessive 55 20
2030 c MNT239 Mental Retardation, Autosomal Dominant 35 20
2031 RHZ008 Rhizomelic Syndrome 20
2032 c MNT179 Mental Retardation, Autosomal Dominant 21 20
2033 c MRG012 Meier-Gorlin Syndrome 5 20
2034 c MRG009 Meier-Gorlin Syndrome 2 20
2035 c MRG011 Meier-Gorlin Syndrome 4 20
2036 c MNT155 Mental Retardation, Autosomal Recessive 2 20
2037 c MCK028 Meckel Syndrome 13 20
2038 c MNT236 Mental Retardation, Autosomal Dominant 39 19
2039 c MNT275 Mental Retardation, Autosomal Recessive 60 19
2040 c MNT245 Mental Retardation, Autosomal Dominant 36 19
2041 c INF090 Inflammatory Bowel Disease 7 19
2042 c MNT220 Mental Retardation, Autosomal Recessive 45 19
2043 c MNT154 Mental Retardation, Autosomal Recessive 14 19
2044 c MNT162 Mental Retardation, Autosomal Recessive 24 19
2045 c MNT240 Mental Retardation, Autosomal Dominant 33 19
2046 c MCK020 Meckel Syndrome, Type 11 19
2047 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 19
2048 c MNT163 Mental Retardation, Autosomal Recessive 30 19
2049 c MNT225 Mental Retardation, Autosomal Recessive 47 19
2050 c MNT215 Mental Retardation, Autosomal Recessive 43 19
2051 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 19
2052 c MNT172 Mental Retardation, Autosomal Recessive 25 18
2053 UPN001 Upington Disease 18
2054 HRT033 Heart-Hand Syndrome, Spanish Type 18
2055 c MNT325 Mental Retardation, Autosomal Recessive 61 18
2056 c MNT167 Mental Retardation, Autosomal Recessive 16 18
2057 TFR002 Tafro Syndrome 18
2058