Bone Diseases Category (2295 diseases)


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

# Family MCID Name MIFTS
1 NSH001 Nasu-Hakola Disease 47
2 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47
3 PGT001 Paget's Disease of Bone 53
4 c HRD104 Hereditary Multiple Osteochondromas 43
5 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 42
6 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 43
7 GRC002 Gracile Bone Dysplasia 26
8 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 45
9 P OST001 Osteopetrosis 63
10 P OST002 Osteoporosis 63
11 P OST005 Osteogenesis Imperfecta 68
12 OST079 Osteolysis, Familial Expansile 40
13 PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30
14 c OST080 Osteogenesis Imperfecta, Type Ii 53
15 BNC003 Bone Cancer 42
16 P RHM011 Rheumatoid Arthritis 87
17 CRT002 Cartilage-Hair Hypoplasia 58
18 OST024 Osteoporosis-Pseudoglioma Syndrome 55
19 c OST135 Osteogenesis Imperfecta, Type I 47
20 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45
21 c FML169 Familial Osteochondritis Dissecans 25
22 VNB005 Van Buchem Disease 46
23 c OST131 Osteopetrosis, Autosomal Dominant 2 42
24 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 38
25 c OST122 Osteogenesis Imperfecta, Type Iii 59
26 c OST126 Osteopetrosis, Autosomal Recessive 1 36
27 BNG036 Bone Giant Cell Tumor 39
28 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 55
29 CHR288 Chronic Recurrent Multifocal Osteomyelitis 49
30 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 40
31 c OST134 Osteopetrosis, Autosomal Recessive 6 28
32 c OST136 Osteopetrosis, Autosomal Recessive 7 26
33 c PSD067 Pseudohypoparathyroidism Ia 54
34 c PSD066 Pseudohypoparathyroidism, Type Ib 52
35 P PSD015 Pseudohypoparathyroidism 46
36 GRH001 Gorham's Disease 34
37 c PSD104 Pseudohypoparathyroidism, Type Ii 33
38 c PSD058 Pseudohypoparathyroidism Ic 29
39 P OST012 Osteoarthritis 79
40 IDP002 Idiopathic Juvenile Osteoporosis 48
41 BSC001 Buschke-Ollendorff Syndrome 48
42 KHL001 Kohler's Disease 25
43 HJD001 Hajdu-Cheney Syndrome 61
44 c OST119 Osteogenesis Imperfecta, Type Vii 46
45 c OST129 Osteopetrosis, Autosomal Recessive 2 36
46 OST069 Osteopetrosis, Autosomal Recessive 3, with Renal Tubular Acidosis 32
47 TRC039 Tracheobronchopathia Osteoplastica 13
48 OST085 Osteosarcoma, Somatic 58
49 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29
50 GRD006 Geroderma Osteodysplastica 26
51 LGG001 Legg-Calve-Perthes Disease 56
52 c OST121 Osteogenesis Imperfecta, Type Iv 48
53 c OST132 Osteogenesis Imperfecta, Type Vi 45
54 BNW001 Bone Ewing's Sarcoma 43
55 ONC003 Oncogenic Osteomalacia 41
56 CRN246 Cranioosteoarthropathy 33
57 BNT003 Bent Bone Dysplasia Syndrome 40
58 c OST147 Osteoarthritis 1 35
59 c OST120 Osteopetrosis, Autosomal Recessive 5 25
60 c OST137 Osteopetrosis, Autosomal Recessive 4 24
61 CRT017 Cartilage Disease 45
62 CRP009 Carpotarsal Osteochondromatosis 7
63 KBG001 Kbg Syndrome 49
64 OST044 Osteoglophonic Dysplasia 49
65 ENC044 Enchondromatosis, Multiple, Ollier Type 45
66 GNT026 Gnathodiaphyseal Dysplasia 35
67 OST022 Osteopathia Striata with Cranial Sclerosis 47
68 RNS001 Raine Syndrome 44
69 MJD001 Majeed Syndrome 35
70 c OST130 Osteogenesis Imperfecta, Type Ix 31
71 c JVN025 Juvenile Primary Osteoporosis 15
72 MLT033 Multicentric Osteolysis Nephropathy 11
73 P NGT001 Negative Rheumatoid Factor Polyarthritis 8
74 c OST128 Osteogenesis Imperfecta, Type Xii 31
75 c OST125 Osteopetrosis, Autosomal Dominant 1 28
76 AXL003 Axial Osteomalacia 28
77 c OST118 Osteogenesis Imperfecta, Type Viii 44
78 OSG001 Osgood-Schlatter's Disease 35
79 OST015 Osteochondrodysplasia 52
80 c OST124 Osteogenesis Imperfecta, Type V 48
81 OST003 Osteonecrosis 43
82 BNS001 Bone Osteosarcoma 36
83 PRM243 Primary Bone Cancer 25
84 OST076 Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis 20
85 DNT050 Dentin Dysplasia with Sclerotic Bones 12
86 ANR009 Aneurysmal Bone Cysts 40
87 CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 36
88 c OST110 Osteogenesis Imperfecta, Type Xv 35
89 OST014 Osteopoikilosis 34
90 c OST133 Osteogenesis Imperfecta, Type Xi 33
91 c OST127 Osteogenesis Imperfecta, Type X 32
92 c OST123 Osteogenesis Imperfecta, Type Xiii 27
93 KNB002 Kienbock's Disease 24
94 c OST109 Osteogenesis Imperfecta, Type Xiv 23
95 SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 22
96 MLR010 Melorheostosis with Osteopoikilosis 20
97 P OST009 Osteochondritis Dissecans 52
98 BNM001 Bone Marrow Cancer 51
99 OSS012 Osseous Heteroplasia, Progressive 51
100 CDS002 Codas Syndrome 37
101 MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 20
102 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 18
103 OST016 Osteochondrosis 49
104 c SCN005 Secondary Hypertrophic Osteoarthropathy 40
105 c OST112 Osteoarthritis-5 29
106 c HYP533 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 26
107 c OST138 Osteogenesis Imperfecta, Type Xvii 25
108 c OST139 Osteogenesis Imperfecta, Type Xvi 24
109 BNM009 Bone Mineral Density Qtl18, Osteoporosis 18
110 OST149 Osteolysis Syndrome, Recessive 18
111 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 16
112 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
113 ALT005 Aloi Tomasini Isaia Syndrome 6
114 OST013 Osteosarcoma Arising in Bone Paget's Disease 6
115 SCL026 Sclerosing Bone Dysplasia Mental Retardation 5
116 DST005 Diastrophic Dysplasia 53
117 HYP622 Hypertrichotic Osteochondrodysplasia 38
118 P CHN012 Chondrosarcoma 55
119 KTL001 Keutel Syndrome 39
120 MLN014 Melnick-Needles Syndrome 37
121 c KNN009 Kenny-Caffey Syndrome, Type 1 31
122 c KNN007 Kenny-Caffey Syndrome, Type 2 29
123 P KNN002 Kenny-Caffey Syndrome 23
124 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 23
125 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 22
126 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 18
127 c LCL005 Localized Chondrosarcoma 15
128 KNS001 Kniest Dysplasia 53
129 ADM013 Adamantinoma of Long Bones 52
130 SKL003 Skeletal Muscle Cancer 41
131 CHP002 Chops Syndrome 39
132 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 38
133 JXT003 Juxtacortical Osteosarcoma 32
134 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 31
135 SML003 Small Cell Osteogenic Sarcoma 29
136 INH011 Inherited Bone Marrow Failure Syndromes 27
137 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 23
138 OSL001 Oslam Syndrome 21
139 ECT035 Ectrodactyly with Tibial Hemimelia 20
140 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 20
141 CYS041 Cystic Angiomatosis of Bone, Diffuse 18
142 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 16
143 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 16
144 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 15
145 FRN047 Frontonasal Dysplasia with Alar Clefts 14
146 c OST111 Osteoporosis, Early-Onset Autosomal Dominant 13
147 ACC009 Accessory Navicular Bone 13
148 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 12
149 LRY012 Laryngeal Cartilage Cancer 10
150 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
151 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
152 INF051 Infantile Recurrent Chronic Multifocal Osteomyolitis 3
153 ACH004 Achondroplasia 66
154 CLC057 Cole-Carpenter Syndrome 33
155 GRD005 Geroderma Osteodysplasticum 27
156 SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 23
157 EKN001 Eiken Syndrome 22
158 PCM001 Pacman Dysplasia 21
159 BNN003 Bone Inflammation Disease 45
160 SKL017 Skeletal Dysplasias 44
161 GLC086 Glucocorticoid-Induced Osteoporosis 37
162 INT259 Interleukin 1 Receptor Antagonist Deficiency 36
163 BNL002 Bone Lymphoma 33
164 SKL001 Skeletal Tuberculosis 33
165 BNM010 Bone Marrow Failure Syndrome 1 32
166 ACR043 Acromicric Dysplasia 31
167 HMM004 Hamamy Syndrome 25
168 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 22
169 BND017 Bone Dysplasia, Lethal, Holmgren Type 20
170 PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 18
171 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 18
172 PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 18
173 OST047 Osteopenia and Sparse Hair 16
174 CRN213 Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies 16
175 OST058 Osteopoikilosis and Dacryocystitis 14
176 CHS003 Chest Wall Bone Cancer 14
177 SHR027 Short Stature Wormian Bones Dextrocardia 8
178 P BRC015 Bruck Syndrome 45
179 RNL011 Renal Osteodystrophy 44
180 P EXT032 Extraosseous Osteosarcoma 34
181 SKL007 Skeletal Muscle Regeneration 33
182 DYS013 Dysbaric Osteonecrosis 31
183 BNG005 Bone Giant Cell Sarcoma 28
184 PGT007 Paget Disease of Bone 3 27
185 HGH023 High Bone Mass Osteogenesis Imperfecta 26
186 SLT009 Solitary Bone Cyst 25
187 c OST106 Osteopetrosis, Autosomal Recessive 8 24
188 LYS010 Lysyl Hydroxylase 3 Deficiency 24
189 CNV007 Conventional Central Osteosarcoma 23
190 BNR002 Bone Resorption Disease 23
191 FBR013 Fibrosarcomatous Osteosarcoma 22
192 PGT009 Paget Disease of Bone 2, Early-Onset 21
193 BNP002 Bone Epithelioid Hemangioma 18
194 PLY028 Polycystic Bone Disease 15
195 PYK001 Pyknoachondrogenesis 15
196 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 14
197 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
198 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 14
199 OCL029 Oculo Skeletal Renal Syndrome 14
200 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 12
201 BWN005 Bowing of Long Bones Congenital 11
202 c PLK001 Plekhm1-Related Autosomal Recessive Osteopetrosis 10
203 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 6
204 LTH009 Lethal Short Limb Skeletal Dysplasia Al Gazali Type 4
205 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
206 NGH002 Night Blindness Skeletal Anomalies Unusual Facies 3
207 OST017 Osteomyelitis 58
208 BNF002 Bone Fracture 51
209 OST011 Osteomalacia 47
210 MRS004 Marshall-Smith Syndrome 41
211 EXS001 Exostosis 41
212 OST004 Osteitis Fibrosa 39
213 c CRB101 Cerebrooculofacioskeletal Syndrome 1 39
214 HYP068 Hyperostosis 38
215 CZC002 Czech Dysplasia 34
216 BNM011 Bone Marrow Failure Syndrome 2 26
217 HGH024 High Bone Mass Trait 24
218 OST062 Osteoarthritis with Mild Chondrodysplasia 22
219 PGT011 Paget Disease of Bone 6 22
220 OST117 Osteomesopyknosis 19
221 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 7
222 P OST028 Osteochondroma 47
223 SKL014 Skeletal Dysplasia 46
224 c LTH007 Lethal Congenital Contracture Syndrome 1 39
225 RHM009 Rheumatoid Lung Disease 38
226 GRN034 Grange Syndrome 36
227 ERL004 Early Yaws 31
228 P DNT033 Dentinogenesis Imperfecta, Shields Type Ii 30
229 CHR543 Chromosome 2q37 Deletion Syndrome 30
230 c LTH027 Lethal Congenital Contracture Syndrome 5 26
231 NTH002 Nathalie Syndrome 25
232 P LTH003 Lethal Congenital Contracture Syndrome 24
233 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 21
234 c LTH042 Lethal Congenital Contracture Syndrome 10 21
235 c DNT044 Dentinogenesis Imperfecta, Shields Type Iii 21
236 c LTH039 Lethal Congenital Contracture Syndrome 11 21
237 c LTH031 Lethal Congenital Contracture Syndrome 6 20
238 c LTH026 Lethal Congenital Contracture Syndrome 4 20
239 c LTH029 Lethal Congenital Contracture Syndrome 9 19
240 c LTH032 Lethal Congenital Contracture Syndrome 7 19
241 c LTH030 Lethal Congenital Contracture Syndrome 8 19
242 KDN010 Kidney Osteogenic Sarcoma 18
243 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 14
244 LNG027 Long Bones of Lower Limb Cancer 12
245 BND005 Bone Dysplasia Azouz Type 7
246 OST152 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones but Without Fractures 5
247 P AVS004 Avascular Necrosis of the Femoral Head 54
248 FBR009 Fibrous Dysplasia 44
249 FBR002 Fibrosarcoma of Bone 40
250 MLG014 Malignant Fibrous Histiocytoma of Bone 39
251 LCL004 Localized Osteosarcoma 39
252 BNR001 Bone Remodeling Disease 38
253 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
254 PRP024 Peripheral Osteosarcoma 36
255 PRS029 Periosteal Osteogenic Sarcoma 33
256 CHN003 Chondroblastic Osteosarcoma 32
257 CL1004 Col1a1/2-Related Osteogenesis Imperfecta 26
258 PRN052 Perinatally Lethal Osteogenesis Imperfecta 25
259 BRS030 Breast Osteosarcoma 24
260 PRG091 Progressively Deforming Osteogenesis Imperfecta 21
261 CLC056 Cole-Carpenter Syndrome 1 21
262 TRC115 Tracheopathia Osteoplastica 20
263 CLS035 Classic Non-Deforming Osteogenesis Imperfecta with Blue Sclerae 20
264 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
265 TLN002 Telangiectatic Osteogenic Sarcoma 18
266 LPS001 Liposarcoma of Bone 17
267 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 17
268 LSS034 Lissencephaly Type Iii and Bone Dysplasia 17
269 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 16
270 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 15
271 HPT017 Hepatic Osteogenic Sarcoma 14
272 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 13
273 EPM003 Epimetaphyseal Skeletal Dysplasia 12
274 CHL007 Childhood Extraosseous Osteosarcoma 12
275 c ADL034 Adult Extraosseous Osteosarcoma 12
276 SHR094 Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome 10
277 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 10
278 c WNT005 Wnt1-Related Osteogenesis Imperfecta 10
279 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 9
280 OST030 Osteodysplasty Precocious of Danks Mayne and Kozlowski 9
281 c SPR102 Sparc-Related Osteogenesis Imperfecta 9
282 c SNX001 Snx10-Related Autosomal Recessive Osteopetrosis 9
283 INT073 Intracortical Osteogenic Sarcoma 9
284 PGT010 Paget Disease of Bone 5, Juvenile 8
285 CMM020 Common Variable Osteogenesis Imperfecta with Normal Sclerae 7
286 MDS009 Mediastinal Osteogenic Sarcoma 6
287 BNM006 Bone Mineral Density Qtl 12, Osteoporosis 6
288 c PST038 Positive Rheumatoid Factor Polyarthritis 6
289 TNF004 Tnfrsf11a- Related Autosomal Recessive Osteopetrosis 6
290 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 5
291 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
292 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 5
293 MTC001 Metachronous Osteosarcoma of the Bone 4
294 CRN080 Craniofacial and Skeletal Defects 4
295 DWR006 Dwarfism Lethal Type Advanced Bone Age 3
296 DWR010 Dwarfism Thin Bones Multiple Fractures 3
297 GGN003 Gigantism Advanced Bone Age Hoarse Cry 3
298 BRT025 Brittle Bone Syndrome Lethal Type 3
299 CTR016 Cataract Skeletal Anomalies 3
300 HYD022 Hydrocephalus Skeletal Anomalies 3
301 MYT010 Myotonia Mental Retardation Skeletal Anomalies 3
302 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 2
303 FCS006 Facies Unusual Arthrogryposis Advanced Skeletal Malformations 2
304 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 2
305 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 2
306 CRP008 Carpo Tarsal Osteolysis Recessive 2
307 CTS007 Cutis Laxa Osteoporosis 2
308 MTP012 Mutiple Parosteal Osteochondromatous Proliferations 2
309 TBB002 Tibiae Bowed Radial Anomalies Osteopenia Fracture 2
310 P HRD001 Hereditary Multiple Exostoses 46
311 BND014 Bone Development Disease 39
312 OST115 Osteonecrosis of the Jaw 38
313 BNS002 Bone Structure Disease 36
314 CHN004 Chondroblastoma 35
315 END059 Endocrine-Cerebroosteodysplasia 31
316 OST006 Osteoblastoma 29
317 c EXS005 Exostoses, Multiple, Type 2 26
318 BNM013 Bone Marrow Failure Syndrome 3 24
319 c EXS004 Exostoses, Multiple, Type 1 23
320 PTR001 Petrositis 22
321 SKL011 Skeletal Defects, Genital Hypoplasia, and Mental Retardation 18
322 c EXS006 Exostoses, Multiple, Type 3 13
323 P CTS001 Cutis Laxa 60
324 P OSS001 Ossifying Fibroma 41
325 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39
326 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 39
327 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 38
328 c CTS008 Cutis Laxa, Autosomal Dominant 37
329 BNS004 Bone Squamous Cell Carcinoma 37
330 ISC005 Ischemic Bone Disease 35
331 WRT001 Worth's Syndrome 35
332 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
333 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
334 BND004 Bone Deterioration Disease 32
335 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 32
336 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32
337 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
338 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
339 PTL009 Patella, Chondromalacia of 28
340 CPL004 Caplan's Syndrome 28
341 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
342 RHM013 Rheumatoid Nodulosis 27
343 c ACQ027 Acquired Cutis Laxa 26
344 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
345 P CRB100 Cerebrooculofacioskeletal Syndrome 4 25
346 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
347 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
348 c CRB098 Cerebrooculofacioskeletal Syndrome 2 24
349 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 23
350 BNB001 Bone Benign Neoplasm 22
351 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
352 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
353 c CRB099 Cerebrooculofacioskeletal Syndrome 3 20
354 CRN272 Craniometadiaphyseal Dysplasia 19
355 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
356 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 18
357 CMM024 Commad Syndrome 17
358 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 17
359 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 17
360 c EFM001 Efemp2-Related Cutis Laxa 16
361 BNC005 Bone Chondrosarcoma 16
362 c JVN045 Juvenile Ossifying Fibroma 15
363 SPL029 Split-Hand/foot Malformation with Long Bone Deficiency 3 15
364 MGC006 Magic Syndrome 15
365 c ALD008 Aldh18a1-Related Cutis Laxa 15
366 c LTB003 Ltbp4-Related Cutis Laxa 12
367 BNM012 Bone Ameloblastoma 12
368 c PYC002 Pycr1-Related Cutis Laxa 11
369 PNN003 Panner Disease 10
370 c FBL003 Fbln5-Related Cutis Laxa 9
371 c ELN002 Eln-Related Cutis Laxa 7
372 P SYP003 Syphilis 51
373 FCL041 Focal Myositis 43
374 c PRM022 Primary Syphilis 40
375 c SCN006 Secondary Syphilis 39
376 TRN004 Trench Fever 38
377 c CNG033 Congenital Syphilis 37
378 SLT001 Solitary Osseous Plasmacytoma 36
379 OST008 Osteosclerotic Myeloma 35
380 PDT021 Pediatric Osteosarcoma 34
381 RHM008 Rheumatic Myocarditis 32
382 12Q002 12q14 Microdeletion Syndrome 27
383 OST097 Osteoporotic Fracture 27
384 PRM151 Primary Bone Lymphoma 26
385 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 21
386 c ERL002 Early Congenital Syphilis 21
387 2Q3002 2q37 Microdeletion Syndrome 20
388 c LTC001 Late Congenital Syphilis 19
389 PGT006 Paget Disease of Bone 4 18
390 STR088 Stratton-Parker Syndrome 18
391 BNM008 Bone Mineral Density, Low 17
392 HDZ001 Hadziselimovic Syndrome 17
393 PRT108 Puerto Rican Infant Hypotonia Syndrome 17
394 BNL001 Bone Leiomyosarcoma 17
395 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 17
396 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 17
397 BMR004 Beemer Lethal Malformation Syndrome 17
398 FXL001 Foix-Alajouanine Syndrome 16
399 VLF001 Velofacioskeletal Syndrome 16
400 P MLT017 Multifocal Osteogenic Sarcoma 16
401 ISL032 Isolated Bone Marrow Mastocytosis 16
402 PRM165 Primary Plasmacytoma of the Bone 14
403 CRT006 Cartilage Cancer 14
404 CNT014 Central Nervous System Osteosarcoma 14
405 ELS005 Elastoma 14
406 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 13
407 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 13
408 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13
409 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
410 CLB032 Coloboma of Macula and Skeletal Anomalies 13
411 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 12
412 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 12
413 MCR197 Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type 12
414 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 12
415 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12
416 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 11
417 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 11
418 c TMM010 Tmem38b-Related Osteogenesis Imperfecta 11
419 CRD048 Cardiomyopathy with or Without Skeletal Myopathy 10
420 c CLC009 Clcn7-Related Osteopetrosis 9
421 c CRT041 Crtap-Related Osteogenesis Imperfecta 9
422 PHL009 Phalangeal Microgeodic Syndrome 9
423 SYN002 Synchronous Multifocal Osteogenic Sarcoma 9
424 SND010 Sinding-Larsen-Johansson Disease 8
425 c IFT001 Ifitm5-Related Osteogenesis Imperfecta 8
426 c BMP002 Bmp1-Related Osteogenesis Imperfecta 8
427 c FKB001 Fkbp10-Related Osteogenesis Imperfecta 8
428 c SP7001 Sp7-Related Osteogenesis Imperfecta 8
429 c SRP003 Serpinf1-Related Osteogenesis Imperfecta 8
430 c SRP004 Serpinh1-Related Osteogenesis Imperfecta 8
431 c P3H001 P3h1-Related Osteogenesis Imperfecta 8
432 c PPB001 Ppib-Related Osteogenesis Imperfecta 8
433 BNN002 Bone Angioendothelial Sarcoma 7
434 c INT107 Intermediate Autosomal Osteopetrosis 7
435 c LRP002 Lrp5-Related Autosomal Dominant Osteopetrosis 7
436 c OST068 Ostm1-Related Autosomal Recessive Osteopetrosis 7
437 c TCR002 Tcirg1-Related Autosomal Recessive Osteopetrosis 7
438 c TNF005 Tnfsf11-Related Autosomal Recessive Osteopetrosis 7
439 ANG057 Angioosteohypotrophic Syndrome 7
440 ORB004 Orbital Osteomyelitis 7
441 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 6
442 MLT064 Multicentric Osteolysis of Torg 6
443 c INF060 Infantile Malignant Clcn7-Related Autosomal Recessive Osteopetrosis 6
444 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 6
445 INV019 Inverse Klippel-Trénaunay Syndrome 6
446 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 6
447 SST002 Sost-Related Sclerosing Bone Dysplasias 6
448 IDP078 Idiopathic Phalangeal Acro-Osteolysis 5
449 CHL041 Childhood Intracortical Osteosarcoma 5
450 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 5
451 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 5
452 CHL001 Childhood Parosteal Osteogenic Sarcoma 5
453 c HRD072 Hereditary Multiple Osteochondromatosis, Type Ii 5
454 P HRD071 Hereditary Multiple Osteochondromatosis, Type I 4
455 P TRM008 Trem2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 4
456 c TYR007 Tyrobp-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 4
457 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
458 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 4
459 SLF005 Sulfate Transporter-Related Osteochondrodysplasia 3
460 BND006 Bone Dysplasia Corpus Callosum Agenesis 3
461 BND008 Bone Dysplasia Moore Type 3
462 SKL008 Skeletal Dysplasia Orofacial Anomalies 2
463 P ART022 Arthritis 72
464 P HYD006 Hydrocephalus 66
465 P CRN037 Craniosynostosis 65
466 P MCL013 Mucolipidosis Iv 64
467 P AMY004 Amyloidosis 64
468 P ART023 Arthropathy 62
469 P EHL001 Ehlers-Danlos Syndrome 61
470 P SPN052 Spondyloarthropathy 59
471 P MCR010 Microcephaly 58
472 P SCL018 Scoliosis 56
473 P GT001 Gout 55
474 P HYP613 Hypophosphatemic Rickets 55
475 P BRC006 Brachydactyly 55
476 P HST010 Histiocytosis 54
477 P PLY006 Polydactyly 54
478 SPN027 Spinal Stenosis 53
479 P ANG015 Angioedema 52
480 P MLT007 Multiple Epiphyseal Dysplasia 52
481 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 51
482 ANK001 Ankylosis 51
483 SPN051 Spondylitis 51
484 c MLG054 Malignant Histiocytosis 50
485 DGN001 Degenerative Disc Disease 50
486 c MCL062 Mucolipidosis Ii Alpha/beta 50
487 c HYP293 Hypophosphatasia, Adult 48
488 SPN019 Spondylolisthesis 48
489 P CNG411 Congenital Disorder of Glycosylation, Type in 48
490 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
491 c MCP038 Mucopolysaccharidosis Iva 48
492 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
493 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
494 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
495 c EHL054 Ehlers-Danlos Syndrome, Type Vi 47
496 HMR002 Hemarthrosis 47
497 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
498 HYP135 Hypophosphatemic Rickets with Hypercalciuria 46
499 c ATS275 Autosomal Recessive Primary Microcephaly 46
500 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 45
501 SYN005 Synostosis 45
502 RDL002 Radioulnar Synostosis 45
503 P CHN059 Chondrocalcinosis 44
504 c HRD039 Hereditary Amyloidosis 44
505 c JVN003 Juvenile Xanthogranuloma 44
506 P MCP012 Mucopolysaccharidosis Ih 44
507 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43
508 c HYP292 Hypophosphatasia, Infantile 43
509 HRT030 Hartsfield Syndrome 43
510 c ANG041 Angioedema, Hereditary, Types I and Ii 43
511 DYS018 Dysostosis 42
512 c EHL018 Ehlers-Danlos Syndrome Type Ii 42
513 c ACQ012 Acquired Angioedema 42
514 P CLB002 Clubfoot 42
515 c PSD106 Pseudo-Torch Syndrome 1 42
516 SHL001 Shoulder Impingement Syndrome 42
517 VLL003 Villonodular Synovitis 41
518 c SPL034 Split-Hand/foot Malformation 4 41
519 P MNN018 Mannosidosis 41
520 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
521 c MCL016 Mucolipidosis Iii Gamma 40
522 c PLY057 Polydactyly, Postaxial, Types A1 and B 40
523 c TYP003 Type I Ehlers-Danlos Syndrome 39
524 TRM011 Terminal Osseous Dysplasia 39
525 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
526 PDT035 Pediatric Systemic Lupus Erythematosus 39
527 BRS064 Bursitis 39
528 IDP070 Idiopathic Scoliosis 39
529 c PRM212 Primary Microcephaly 39
530 c PFF007 Pfeiffer Syndrome Type 1 38
531 RCK007 Rickets, Vitamin D-Resistant, Type Iia 38
532 SPN029 Spondylolysis 38
533 P PRT042 Parietal Foramina 38
534 CHN053 Chondromyxoid Fibroma 37
535 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 37
536 EPC002 Epicondylitis 37
537 c ATL011 Atelosteogenesis, Type I 37
538 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 37
539 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37
540 SPL040 Split Hand 36
541 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
542 HYP007 Hypermobility Syndrome 36
543 PTL002 Patellofemoral Pain Syndrome 36
544 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 36
545 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
546 HYD003 Hydrarthrosis 36
547 HYP041 Hypochondrogenesis 35
548 c SCL042 Sclerosteosis 2 35
549 P ATL001 Atelosteogenesis 35
550 c CNG216 Congenital Hydrocephalus 35
551 c CRN278 Craniosynostosis 1 35
552 P NNT042 Neonatal Lupus Erythematosus 34
553 OLC001 Olecranon Bursitis 34
554 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
555 c MCP036 Mucopolysaccharidosis Ih/s 34
556 P SPL050 Split Hand-Split Foot Malformation 34
557 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
558 MND025 Mandibulofacial Dysostosis with Alopecia 34
559 c MCP015 Mucopolysaccharidosis Type Ix 33
560 c ATS076 Autosomal Recessive Stickler Syndrome 33
561 SPL039 Split Foot 33
562 c HYD008 Hydrocephalus Due to Aqueductal Stenosis 33
563 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 33
564 c CRN277 Craniosynostosis 2 33
565 STL007 Steel Syndrome 33
566 c TYP024 Type Ii Mixed Cryoglobulinemia 33
567 BRC004 Brachydactyly-Syndactyly Syndrome 33
568 P GLP001 Geleophysic Dysplasia 33
569 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
570 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 33
571 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32
572 c HRD086 Hereditary Hypophosphatemic Rickets 32
573 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
574 MST019 Mastoiditis 32
575 c HPR001 Hprt-Related Gout 32
576 CHN011 Chondromalacia 31
577 c SPL033 Split-Hand/foot Malformation 6 31
578 c TRN014 Transient Arthritis 31
579 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
580 EHL060 Ehlers-Danlos Syndrome Due to Tenascin X Deficiency 31
581 c CNG379 Congenital Disorder of Glycosylation, Type It 31
582 c EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 31
583 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
584 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
585 SPN331 Spondyloocular Syndrome 31
586 c SPL063 Split Hand-Foot Malformation 2 30
587 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
588 c SCK009 Seckel Syndrome 1 30
589 c SPL025 Split-Hand/foot Malformation 5 30
590 NNT039 Neonatal Marfan Syndrome 30
591 IDP041 Idiopathic Recurrent Pericarditis 30
592 c ATL012 Atelosteogenesis, Type Iii 30
593 c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30
594 c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30
595 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
596 c SCK033 Seckel Syndrome 8 29
597 ESN017 Eosinophilic Granuloma 29
598 c CNG188 Congenital Disorder of Glycosylation, Type if 29
599 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 29
600 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 29
601 c SCK010 Seckel Syndrome 4 29
602 c GLP003 Geleophysic Dysplasia 1 29
603 c CRN256 Craniosynostosis 6 29
604 ALG027 Al-Gazali-Bakalinova Syndrome 29
605 c SCK011 Seckel Syndrome 5 29
606 c RBN008 Rubinstein-Taybi Syndrome 2 28
607 c EHL041 Ehlers-Danlos Syndrome, Type Vii 28
608 c CRN217 Craniosynostosis 3 28
609 P ACR093 Acrofrontofacionasal Dysostosis 28
610 P ADL037 Adult Xanthogranuloma 28
611 ANG049 Angioedema Induced by Ace Inhibitors 28
612 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 28
613 c SYN084 Synpolydactyly 1 28
614 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
615 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 28
616 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
617 c CHN022 Chondrocalcinosis 2 28
618 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
619 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
620 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
621 c ATL002 Atelosteogenesis Ii 27
622 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
623 P BRC003 Brachyolmia 27
624 DNT045 Dental Anomalies and Short Stature 27
625 c ANG045 Angioedema, Hereditary, Type Iii 27
626 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 27
627 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27
628 c GLP004 Geleophysic Dysplasia 2 27
629 PRT043 Parietal Foramina with Cleidocranial Dysplasia 27
630 c SCL045 Sclerosteosis 1 27
631 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
632 c PFF011 Pfeiffer Syndrome Type 2 27
633 MLT153 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects 26
634 CLL036 Culler-Jones Syndrome 26
635 c STC012 Stickler Syndrome, Type Iv 26
636 P OMD003 Omodysplasia 26
637 c OMD001 Omodysplasia 1 26
638 HLS001 Heel Spur 26
639 SPN180 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 26
640 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
641 c BRC062 Brachydactyly, Type D 26
642 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26
643 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
644 HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 26
645 c ATS004 Autosomal Dominant Microcephaly 26
646 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
647 BNG069 Benign Cephalic Histiocytosis 26
648 c CRN281 Craniosynostosis 7 26
649 ISL062 Isolated Plagiocephaly 26
650 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
651 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
652 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 26
653 IGG014 Igg4-Related Sclerosing Cholangitis 26
654 c FRN033 Frontonasal Dysplasia 2 26
655 c PFF009 Pfeiffer Syndrome Type 3 26
656 c SCK015 Seckel Syndrome 2 25
657 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
658 DSC004 Discitis 25
659 c JVN047 Juvenile Spondyloarthropathy 25
660 LBN004 Liebenberg Syndrome 25
661 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 25
662 ISL096 Isolated Klippel-Feil Syndrome 25
663 BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25
664 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
665 ISL061 Isolated Brachycephaly 25
666 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25
667 WLD005 Wild Type Attr Amyloidosis 25
668 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
669 SLC020 Sialic Acid Storage Disorder, Infantile 24
670 HYP674 Hyperostosis Cranialis Interna 24
671 HYP679 Hypoglossia-Hypodactylia 24
672 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 24
673 c STC011 Stickler Syndrome, Type V 24
674 PRR001 Periarthritis 24
675 c PRT059 Parietal Foramina 1 24
676 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 24
677 c BRC052 Brachydactyly, Type B2 24
678 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 24
679 c EPP009 Epiphyseal Dysplasia, Multiple, 6 24
680 P NNT006 Neonatal Myasthenia Gravis 24
681 c CRN216 Craniosynostosis 5 24
682 ALZ030 Alazami Syndrome 24
683 DGT002 Digital Clubbing, Isolated Congenital 24
684 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 23
685 c EPP012 Epiphyseal Dysplasia, Multiple, 2 23
686 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 23
687 CRN200 Craniosynostosis and Dental Anomalies 23
688 MRF019 Marfan Lipodystrophy Syndrome 23
689 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 23
690 c MCR269 Microcephaly 15, Primary, Autosomal Recessive 23
691 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
692 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 23
693 c HYP320 Hypophosphatemic Rickets, Ar 23
694 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 23
695 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
696 c FNG009 Feingold Syndrome 2 23
697 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 23
698 ANG062 Angioosteohypertrophic Syndrome 23
699 RHM035 Rheumatic Fever-Related Antigen 23
700 ISL089 Isolated Scaphocephaly 23
701 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
702 MCR325 Microcephaly, Short Stature, and Polymicrogyria with Seizures 23
703 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 22
704 PTL010 Patella Aplasia-Hypoplasia 22
705 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
706 c PRT060 Parietal Foramina 2 22
707 c SCK029 Seckel Syndrome 7 22
708 c FRN032 Frontonasal Dysplasia 3 22
709 c BRC075 Brachydactyly, Type A1, C 22
710 c SYS066 Systemic Polyarteritis Nodosa 22
711 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
712 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 22
713 ACR095 Acrofacial Dysostosis, Cincinnati Type 22
714 TRC029 Trichodontoosseous Syndrome 22
715 KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 22
716 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22
717 P OTP001 Otopalatodigital Syndrome 22
718 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
719 c PRM150 Primary Localized Amyloidosis 22
720 c OMD002 Omodysplasia 2 22
721 HGH021 Hughes-Stovin Syndrome 22
722 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
723 c BRC060 Brachydactyly, Type E2 21
724 c SPN226 Spondyloarthropathy 2 21
725 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 21
726 PLC002 Plica Syndrome 21
727 c ACR103 Acrofrontofacionasal Dysostosis 1 21
728 ACR017 Acrofacial Dysostosis 21
729 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
730 P TRC031 Trichorhinophalangeal Syndrome 21
731 PRG077 Progressive Nodular Histiocytosis 21
732 ISL087 Isolated Oxycephaly 21
733 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 21
734 c PST057 Postaxial Polydactyly, Type A2 21
735 SKT002 Sakati-Nyhan Syndrome 21
736 c BRC080 Brachydactyly, Type A1, B 21
737 c BRC053 Brachyolmia Type 2 21
738 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 21
739 ACR101 Acrocraniofacial Dysostosis 21
740 DRG013 Drug-Induced Lupus Erythematosus 20
741 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
742 ULN023 Ulnar Hypoplasia 20
743 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
744 P ZYG003 Zygodactyly 1 20
745 FBR091 Fibroblastic Rheumatism 20
746 GNR023 Generalized Eruptive Histiocytosis 20
747 c EHL065 Ehlers-Danlos Syndrome, Type V 20
748 INF009 Inflammatory Spondylopathy 20
749 c SPN324 Spondylocostal Dysostosis 6 20
750 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
751 MSL005 Mseleni Joint Disease 20
752 CRN264 Craniosynostosis with Fibular Aplasia 20
753 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 20
754 c SCK032 Seckel Syndrome 6 19
755 MNS012 Monostotic Fibrous Dysplasia 19
756 SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 19
757 SNG008 Singleton-Merten Dysplasia 19
758 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 19
759 P TRC034 Torch Syndrome 19
760 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 19
761 c BRC105 Brachydactyly, Type A1, D 19
762 MLR023 Melorheostosis, Isolated 19
763 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 19
764 c STC007 Stickler Syndrome, Type 3 19
765 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 19
766 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 19
767 DYS134 Dysspondyloenchondromatosis 19
768 P OVR096 Overlap Myositis 19
769 SGL002 Sagliker Syndrome 19
770 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
771 EPP011 Epiphyseal Chondrodysplasia, Miura Type 18
772 P ACR020 Acropectorovertebral Dysplasia 18
773 c PRM060 Primary Autosomal Recessive Microcephaly Type 2 18
774 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
775 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 18
776 c PSD107 Pseudo-Torch Syndrome 2 18
777 c SCK038 Seckel Syndrome 10 18
778 c ACR105 Acrofrontofacionasal Dysostosis 2 18
779 TRG019 Trigonocephaly with Short Stature and Developmental Delay 18
780 c SCK037 Seckel Syndrome 9 18
781 SYN037 Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 18
782 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
783 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 18
784 KMM001 Kummell's Disease 18
785 FBR089 Fibrosclerosis, Multifocal 18
786 DVL018 Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair 18
787 INT182 Intermittent Hydrarthrosis 18
788 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18
789 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17
790 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17
791 IND009 Indeterminate Cell Histiocytosis 17
792 MZB001 Mazabraud Syndrome 17
793 ISL084 Isolated Trigonocephaly 17
794 c SPN256 Spondyloarthropathy 3 17
795 TRM018 Traumatic Avascular Necrosis 17
796 c BRC033 Brachydactyly Type A3 17
797 MSM018 Mesomelic Limb Shortening and Bowing 17
798 INF118 Inflammatory Myopathy with Abundant Macrophages 17
799 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 17
800 c BRC035 Brachydactyly Type A5 17
801 CRN224 Craniofaciofrontodigital Syndrome 17
802 CNS013 Constricting Bands, Congenital 17
803 PLV015 Pelvis-Shoulder Dysplasia 17
804 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 17
805 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 17
806 c BRC069 Brachydactyly of Toes 17
807 c SYN040 Synpolydactyly 3 16
808 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 16
809 AML037 Amelia of Upper Limb 16
810 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 16
811 c HYD042 Hydrocephalus, Autosomal Dominant 16
812 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
813 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 16
814 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 16
815 IDP069 Idiopathic Avascular Necrosis 16
816 PPL038 Papular Xanthoma 16
817 c AHM002 Ah Amyloidosis 16
818 IGG013 Igg4-Related Pachymeningitis 16
819 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 16
820 c PRM222 Primary Polyarteritis Nodosa 16
821 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
822 SPC002 Specific Bursitis Often of Occupational Origin 16
823 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 16
824 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 15
825 BCP001 Bicipital Tenosynovitis 15
826 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 15
827 c TRN062 Transient Neonatal Myasthenia Gravis 15
828 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
829 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 15
830 IGG016 Igg4-Related Dacryoadenitis and Sialadenitis 15
831 RDL022 Radial Hemimelia 15
832 MMM002 Mammary-Digital-Nail Syndrome 15
833 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 15
834 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 15
835 FBL014 Fibular Hemimelia 15
836 CTN031 Cutaneous Pseudolymphoma 15
837 ACH002 Achilles Bursitis 15
838 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
839 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
840 AML053 Amelia, Autosomal Recessive 14
841 P PRX038 Preaxial Polydactyly of Toes 14
842 ACR109 Acropectororenal Dysplasia 14
843 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 14
844 c OTP002 Otopalatodigital Spectrum Disorders 14
845 c INF052 Infantile Scoliosis 14
846 c ACQ036 Acquired Angioedema Type 2 14
847 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 14
848 CNS012 Cono-Spondylar Dysplasia 14
849 WHB001 Wahab Syndrome 14
850 HST018 Histiocytosis, Progressive Mucinous 14
851 PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14
852 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 14
853 IGG009 Igg4-Related Ophthalmic Disease 14
854 IGG011 Igg4-Related Kidney Disease 14
855 CNG284 Congenital Pseudoarthrosis of the Tibia 14
856 c PLY101 Polydactyly, Postaxial, Type A6 14
857 HLL014 Hallux Varus and Preaxial Polysyndactyly 13
858 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 13
859 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
860 c ALP056 Alpha-Mannosidosis, Adult Form 13
861 LMB064 Limb Transversal Defect-Cardiac Anomaly Syndrome 13
862 HYP497 Hyperphalangy 13
863 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
864 LRS009 Larsen-Like Syndrome, Lethal Type 13
865 c NNT025 Neonatal Systemic Lupus Erythematosus 13
866 EPP010 Epiphysiolysis of the Hip 13
867 LGB002 Leg, Absence Deformity of, with Congenital Cataract 13
868 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 13
869 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 13
870 c PRT113 Parietal Foramina 3 13
871 PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 13
872 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
873 VRN007 Variant Abeta2m Amyloidosis 13
874 BHC001 Behcet's Syndrome Arthropathy 13
875 TRP023 Triphalangeal Thumbs and Dislocation of Patella 13
876 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 13
877 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
878 CLV012 Clavicle, Pseudarthrosis of, Congenital 13
879 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 13
880 CNT080 Central Polydactyly of Fingers 13
881 TBL017 Tibial Hemimelia, Bilateral 13
882 c SPN122 Spondylocostal Dysostosis 2 12
883 c TRN008 Transient Arthropathy 12
884 P PST079 Postaxial Polydactyly of Toes 12
885 c SPN123 Spondylocostal Dysostosis 3 12
886 c SCN055 Secondary Polyarteritis Nodosa 12
887 RDL018 Radial Hemimelia, Unilateral 12
888 RDL017 Radial Hemimelia, Bilateral 12
889 IGG008 Igg4-Related Mesenteritis 12
890 CRN204 Craniofacial Conodysplasia 12
891 RDL031 Radial Aplasia, X-Linked 12
892 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 12
893 CLC050 Calciphylaxis Cutis 12
894 ACH028 Acheiria 12
895 c DLL001 Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive 12
896 c FGF004 Fgfr2-Related Craniosynostosis 12
897 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12
898 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 12
899 c TWS001 Twist1-Related Craniosynostosis 12
900 c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 12
901 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12
902 c CNT079 Central Polydactyly of Toes 11
903 APV001 Aapoaiv Amyloidosis 11
904 c MXD037 Mixed Cryoglobulinemia Type Iii 11
905 SYM014 Symbrachydactyly of Hands and Feet 11
906 RNN006 Reunion Island Larsen Syndrome 11
907 BST002 Baastrup's Syndrome 11
908 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 11
909 c CRN112 Craniosynostosis, Nonsyndromic 11
910 c MSX001 Msx2-Related Craniosynostosis 11
911 c CL1002 Col11a2-Related Stickler Syndrome 11
912 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
913 c SYN050 Syndactyly Type 6 11
914 BRC068 Brachydactyly of Fingers 11
915 c PLY103 Polydactyly, Postaxial, Type A5 11
916 AML035 Amelia of Upper Limb, Bilateral 11
917 c ACQ035 Acquired Angioedema Type 1 11
918 SPL043 Split Hand, Bilateral 10
919 c ZYG007 Zygodactyly Type 3 10
920 c MLT030 Multiple Epiphyseal Dysplasia, Dominant 10
921 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 10
922 HND012 Handigodu Joint Disease 10
923 c CL1001 Col11a1-Related Stickler Syndrome 10
924 PRM233 Primary Cutaneous Plasmacytosis 10
925 IGG010 Igg4-Related Aortitis 10
926 c PLY144 Polydactyly, Postaxial, Type A7 10
927 IGG015 Igg4-Related Thyroid Disease 10
928 ULN014 Ulnar Hemimelia 10
929 c NNS028 Nonsyndromic Hydrocephalus, Ccdc88c-Related 10
930 c CL9001 Col9a1-Related Multiple Epiphyseal Dysplasia 10
931 c CL9003 Col9a2-Related Multiple Epiphyseal Dysplasia 10
932 c BRC037 Brachydactyly Type A7 10
933 c CL2002 Col2a1-Related Stickler Syndrome 10
934 c CL9002 Col9a1-Related Stickler Syndrome 10
935 c CL9004 Col9a2-Related Stickler Syndrome 10
936 c HS7001 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive 10
937 c ZYG006 Zygodactyly Type 2 10
938 IDP040 Idiopathic Eosinophilic Myositis 10
939 FMR013 Femoral Agenesis/hypoplasia 10
940 GLS016 Glossopalatine Ankylosis 9
941 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
942 HMR042 Humero-Ulnar Synostosis 9
943 c TCF002 Tcf12-Related Craniosynostosis 9
944 c MSP002 Mesp2-Related Spondylocostal Dysostosis, Autosomal Recessive 9
945 FBL017 Fibular Dimelia-Diplopodia Syndrome 9
946 c NNS036 Nonsyndromic Hydrocephalus, Mpdz-Related 9
947 c CL9005 Col9a3-Related Multiple Epiphyseal Dysplasia 9
948 c JVN030 Juvenile Overlap Myositis 9
949 c PST083 Postaxial Polydactyly Type a, Bilateral 9
950 c SPN121 Spondylocostal Dysostosis 1 9
951 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 9
952 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 9
953 APD003 Apodia 9
954 WLD006 Wild Type Abeta2m Amyloidosis 9
955 AML036 Amelia of Lower Limb 9
956 c ZYG005 Zygodactyly Type 4 9
957 P RBN007 Rubinstein Taybi Like Syndrome 9
958 CRN261 Craniosynostosis-Cataract Syndrome 8
959 c ZC1001 Zic1-Related Craniosynostosis 8
960 c LFN001 Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive 8
961 c RPP005 Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive 8
962 c JVN036 Juvenile Sialidosis Type 2 8
963 c CNG348 Congenital Sialidosis Type 2 8
964 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 8
965 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
966 c BRC101 Brachyolmia 4 8
967 P CRD218 Cardiac-Valvular Ehlers-Danlos Syndrome 8
968 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8
969 CNG290 Congenital Absence of Both Lower Leg and Foot 8
970 CNG277 Congenital Pseudoarthrosis of the Fibula 8
971 c GTH001 Gout, Hprt1-Related 8
972 ALC030 Alect2 Amyloidosis 8
973 c ALP055 Alpha-Mannosidosis, Infantile Form 8
974 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 8
975 c SPN124 Spondylocostal Dysostosis 4 8
976 c FGF003 Fgfr1-Related Craniosynostosis 8
977 c ERF001 Erf-Related Craniosynostosis 8
978 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 8
979 PRN048 Prenatal Benign Hypophosphatasia 8
980 ISC011 Ischio-Vertebral Syndrome 8
981 CNG289 Congenital Absence/hypoplasia of Thumb 8
982 SPL042 Split Hand, Unilateral 8
983 CNG287 Congenital Absence of Both Forearm and Hand 8
984 CNT083 Central Polydactyly of Fingers, Bilateral 8
985 TBF001 Tibio-Fibular Synostosis 8
986 c ACR046 Acropectorovertebral Dysplasia F Form 8
987 c PLY054 Polydactyly, Postaxial, Type A4 8
988 c PLY053 Polydactyly, Postaxial, Type A3 8
989 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
990 c SX2003 Six2-Related Frontonasal Dysplasia 7
991 c HXD001 Hoxd13-Related Brachydactyly 7
992 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
993 SCN050 Secondary Non-Traumatic Avascular Necrosis 7
994 OKH001 Okihiro Syndrome Due to a Point Mutation 7
995 SPL045 Split Foot, Bilateral 7
996 BPR001 Bipartite Talus 7
997 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 7
998 ADC007 Adactyly of Foot 7
999 HMR031 Humeral Agenesis/hypoplasia 7
1000 CNG283 Congenital Pseudoarthrosis of the Femur 7
1001 CNG278 Congenital Pseudoarthrosis of the Radius 7
1002 CNG279 Congenital Pseudoarthrosis of the Ulna 7
1003 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
1004 SNG013 Single-Organ Polyarteritis Nodosa 7
1005 CNG314 Congenital Absence/hypoplasia of Fingers Excluding Thumb, Bilateral 6
1006 PRX040 Preaxial Polydactyly of Toes, Unilateral 6
1007 PRX039 Preaxial Polydactyly of Toes, Bilateral 6
1008 HYP500 Hyperphalangy, Unilateral 6
1009 SMP006 Simple Cryoglobulinemia 6
1010 NNT045 Neonatal Autoimmune Hemolytic Anemia 6
1011 c SPN274 Spondylocostal Dysostosis 5, Autosomal Dominant 6
1012 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
1013 TRG018 Trigonocephaly-Broad Thumbs Syndrome 6
1014 ULN012 Ulnar Hemimelia, Bilateral 6
1015 CNG313 Congenital Absence/hypoplasia of Thumb, Unilateral 6
1016 CNG312 Congenital Absence/hypoplasia of Thumb, Bilateral 6
1017 SPL044 Split Foot, Unilateral 6
1018 PLY095 Polysyndactyly, Unilateral 6
1019 PLY094 Polysyndactyly, Bilateral 6
1020 CNT082 Central Polydactyly of Fingers, Unilateral 6
1021 CNT085 Central Polydactyly of Toes, Unilateral 6
1022 CNT084 Central Polydactyly of Toes, Bilateral 6
1023 HYP501 Hyperphalangy, Bilateral 6
1024 RDL019 Radio-Ulnar Synostosis, Unilateral 6
1025 RDL020 Radio-Ulnar Synostosis, Bilateral 6
1026 HYP010 Hypermobility of Coccyx 6
1027 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 6
1028 ACH030 Acheiria, Unilateral 6
1029 ACH029 Acheiria, Bilateral 6
1030 DGT008 Digital Anomalies-Intellectual Disability-Short Stature Syndrome 6
1031 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
1032 RGR003 Regressive Spondylometaphyseal Dysplasia 5
1033 SVR046 Severe Lateral Tibial Bowing with Short Stature 5
1034 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
1035 FMR015 Femoral Agenesis/hypoplasia, Unilateral 5
1036 FMR014 Femoral Agenesis/hypoplasia, Bilateral 5
1037 ULN011 Ulnar Hemimelia, Unilateral 5
1038 TBL018 Tibial Hemimelia, Unilateral 5
1039 FBL013 Fibular Hemimelia, Unilateral 5
1040 FBL012 Fibular Hemimelia, Bilateral 5
1041 CNG276 Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral 5
1042 CNG275 Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral 5
1043 CNG307 Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral 5
1044 CNG306 Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral 5
1045 BRC070 Brachydactyly of Fingers, Unilateral 5
1046 BRC071 Brachydactyly of Fingers, Bilateral 5
1047 BRC072 Brachydactyly of Toes, Unilateral 5
1048 BRC073 Brachydactyly of Toes, Bilateral 5
1049 CNG309 Congenital Absence of Both Forearm and Hand, Unilateral 5
1050 CNG308 Congenital Absence of Both Forearm and Hand, Bilateral 5
1051 CNG311 Congenital Absence of Both Lower Leg and Foot, Unilateral 5
1052 CNG310 Congenital Absence of Both Lower Leg and Foot, Bilateral 5
1053 APD005 Apodia, Unilateral 5
1054 APD004 Apodia, Bilateral 5
1055 ADC003 Adactyly of Foot, Unilateral 5
1056 ADC004 Adactyly of Foot, Bilateral 5
1057 HMR030 Humeral Agenesis/hypoplasia, Unilateral 5
1058 HMR029 Humeral Agenesis/hypoplasia, Bilateral 5
1059 PLY093 Polydactyly of an Index Finger, Unilateral 5
1060 PLY096 Polydactyly of an Index Finger, Bilateral 5
1061 PLY107 Polydactyly of a Biphalangeal Thumb, Unilateral 5
1062 PLY108 Polydactyly of a Biphalangeal Thumb, Bilateral 5
1063 P PST080 Postaxial Polydactyly Type a, Unilateral 5
1064 c PST082 Postaxial Polydactyly Type B, Unilateral 5
1065 c PST081 Postaxial Polydactyly Type B, Bilateral 5
1066 HMR032 Humero-Radial Synostosis, Unilateral 5
1067 HMR033 Humero-Radial Synostosis, Bilateral 5
1068 HMR034 Humero-Radio-Ulnar Synostosis, Unilateral 5
1069 HMR035 Humero-Radio-Ulnar Synostosis, Bilateral 5
1070 HMR036 Humero-Ulnar Synostosis, Unilateral 5
1071 HMR037 Humero-Ulnar Synostosis, Bilateral 5
1072 ACR100 Acrofacial Dysostosis, Patagonia Type 5
1073 c HYD017 Hydrocephalus Autosomal Recessive 5
1074 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
1075 DPP001 Dappled Diaphyseal Dysplasia 5
1076 ISL026 Isolated Sternocostoclavicular Hyperostosis 5
1077 XLN217 X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome 5
1078 c CRN093 Craniosynostosis Autosomal Dominant 5
1079 GNC002 Gonococcal Bursitis 5
1080 VSC036 Visceral Calciphylaxis 4
1081 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 4
1082 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 4
1083 DYS128 Dysplasia of Head of Femur, Meyer Type 4
1084 MDL018 Madelung Deformity, Unilateral 4
1085 MDL017 Madelung Deformity, Bilateral 4
1086 CHR512 Cheirospondyloenchondromatosis 4
1087 PTL007 Patella Aplasia/hypoplasia, Unilateral 4
1088 PTL008 Patella Aplasia/hypoplasia, Bilateral 4
1089 AML034 Amelia of Upper Limb, Unilateral 4
1090 AML033 Amelia of Lower Limb, Unilateral 4
1091 AML032 Amelia of Lower Limb, Bilateral 4
1092 SYM017 Symbrachydactyly of Hand and Foot, Unilateral 4
1093 SYM018 Symbrachydactyly of Hand and Foot, Bilateral 4
1094 PST084 Postaxial Polydactyly of Toes, Unilateral 4
1095 P PST085 Postaxial Polydactyly of Toes, Bilateral 4
1096 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 4
1097 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 4
1098 TNS002 Tenosynovitis of Foot and Ankle 4
1099 GNC006 Gonococcal Spondylitis 4
1100 PRG089 Progeria-Associated Arthropathy 4
1101 SPN339 Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome 4
1102 c PTX001 Pitx1-Related Congenital Clubfoot 4
1103 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 4
1104 c SPL020 Split Hand Split Foot Malformation Autosomal Recessive 3
1105 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
1106 MDF001 Midface Dysplasia 2
1107 SHW005 Shwachman-Diamond Type Metaphyseal Dysplasia 2
1108 GRN039 Greenberg Skeletal Dysplasia 36
1109 PGT008 Paget Disease of Bone 5, Juvenile-Onset 43
1110 CRD221 Cardiospondylocarpofacial Syndrome 34
1111 HYP299 Hyperostosis, Endosteal 44
1112 HPD003 Hip Dysplasia, Beukes Type 24
1113 3MS007 3-M Syndrome 1 45
1114 SCH072 Scheuermann Disease 35
1115 FNT003 Fountain Syndrome 30
1116 OST032 Osteofibrous Dysplasia 46
1117 LYS021 Loeys-Dietz Syndrome 3 33
1118 c HRD010 Hereditary Spastic Paraplegia 66
1119 MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 57
1120 ANT003 Antley-Bixler Syndrome 50
1121 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1122 FLT011 Felty Syndrome 46
1123 CHN054 Chondrodysplasia, Blomstrand Type 42
1124 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
1125 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
1126 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
1127 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
1128 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
1129 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
1130 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
1131 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
1132 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
1133 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
1134 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
1135 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
1136 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
1137 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
1138 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
1139 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
1140 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
1141 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
1142 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
1143 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
1144 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
1145 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
1146 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
1147 c EPP017 Epiphyseal Dysplasia, Multiple, 1 32
1148 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
1149 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
1150 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
1151 c HRD185 Hereditary Spastic Paraplegia 3a 31
1152 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
1153 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
1154 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
1155 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
1156 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 30
1157 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1158 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
1159 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
1160 P SPS012 Spastic Paraplegia 3a 29
1161 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
1162 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
1163 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
1164 c EPP014 Epiphyseal Dysplasia, Multiple, 4 27
1165 c SPS031 Spastic Paraplegia 23 27
1166 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
1167 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
1168 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
1169 c EPP013 Epiphyseal Dysplasia, Multiple, 5 26
1170 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
1171 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
1172 c SPS036 Spastic Paraplegia 3 26
1173 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
1174 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
1175 c SPS013 Spastic Paraplegia 8 25
1176 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
1177 c SPS021 Spastic Paraplegia 10 25
1178 c SPS092 Spastic Paraplegia 11 25
1179 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
1180 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
1181 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
1182 c SPS200 Spastic Paraplegia 62 24
1183 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
1184 c HRD186 Hereditary Spastic Paraplegia 51 24
1185 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
1186 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
1187 c SPS025 Spastic Paraplegia 15 24
1188 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
1189 c SPS041 Spastic Paraplegia 6 24
1190 c SPS135 Spastic Paraplegia 63 24
1191 c SPS091 Spastic Paraplegia 4 23
1192 c SPS020 Spastic Paraplegia 1 23
1193 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
1194 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
1195 c SPS039 Spastic Paraplegia 5a 22
1196 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
1197 c SPS027 Spastic Paraplegia 17 22
1198 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
1199 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
1200 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
1201 c SPS028 Spastic Paraplegia 18 20
1202 c SPS034 Spastic Paraplegia 26 20
1203 c SPS023 Spastic Paraplegia 13 19
1204 c SPS054 Spastic Paraplegia 35 19
1205 c SPS022 Spastic Paraplegia 12 19
1206 c SPS033 Spastic Paraplegia 25 18
1207 c SPS037 Spastic Paraplegia 31 16
1208 c SPS175 Spastic Paraplegia 49 16
1209 c SPS064 Spastic Paraplegia 45 16
1210 c SPS024 Spastic Paraplegia 14 16
1211 c SPS038 Spastic Paraplegia 39 16
1212 c SPS173 Spastic Paraplegia 43 15
1213 c SPS035 Spastic Paraplegia 29 15
1214 c SPS080 Spastic Paraplegia 51 15
1215 c SPS174 Spastic Paraplegia 46 15
1216 c SPS026 Spastic Paraplegia 16 14
1217 c SPS161 Spastic Paraplegia 32 14
1218 c SPS052 Spastic Paraplegia 30 14
1219 c SPS165 Spastic Paraplegia 47 14
1220 c SPS181 Spastic Paraplegia 72 14
1221 c SPS056 Spastic Paraplegia 44 14
1222 c HRD187 Hereditary Spastic Paraplegia 62 13
1223 c HRD188 Hereditary Spastic Paraplegia 72 13
1224 c SPS053 Spastic Paraplegia 33 13
1225 c SPS177 Spastic Paraplegia 54 13
1226 c SPS179 Spastic Paraplegia 57 13
1227 c SPS180 Spastic Paraplegia 61 13
1228 c SPS029 Spastic Paraplegia 19 13
1229 c SPS166 Spastic Paraplegia 50 13
1230 c SPS032 Spastic Paraplegia 24 13
1231 c SPS164 Spastic Paraplegia 28 12
1232 c SPS055 Spastic Paraplegia 42 12
1233 c SPS167 Spastic Paraplegia 52 12
1234 c SPS178 Spastic Paraplegia 55 12
1235 c SPS168 Spastic Paraplegia 56 12
1236 c SPS076 Spastic Paraplegia 48 11
1237 c SPS140 Spastic Paraplegia 64 11
1238 c SPS182 Spastic Paraplegia 75 11
1239 c SPS201 Spastic Paraplegia 76 11
1240 OST141 Osteoclastic Giant Cell Tumor of Pancreas 11
1241 c SPS199 Spastic Paraplegia 59 11
1242 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
1243 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
1244 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
1245 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
1246 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
1247 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
1248 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
1249 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
1250 c SPS176 Spastic Paraplegia 53 10
1251 c SPS169 Spastic Paraplegia 66 10
1252 c SPS040 Spastic Paraplegia 5b 10
1253 BLN001 Blount's Disease 42
1254 SDD003 Saddan 32
1255 THM023 Thiemann Disease 17
1256 QZM001 Qazi Markouizos Syndrome 11
1257 NLP001 Nail-Patella Syndrome 55
1258 PSD014 Pseudopseudohypoparathyroidism 55
1259 P PRM018 Primary Hypertrophic Osteoarthropathy 43
1260 P NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 22
1261 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 20
1262 ECT044 Ectodermal, Dysplasia, Anhidrotic, Lymphedema and Immunodeficiency 20
1263 OST034 Osteogenesis Imperfecta Levin Type 7
1264 P THN009 Thanatophoric Dysplasia, Type I 64
1265 P WVR001 Weaver Syndrome 60
1266 MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54
1267 SCH068 Schwartz-Jampel Syndrome, Type 1 47
1268 FLT006 Floating-Harbor Syndrome 44
1269 BMR001 Boomerang Dysplasia 41
1270 PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 27
1271 HYP695 Hypertrichotic Osteochondrodysplasia Cantu Type 27
1272 FRB005 Freiberg's Disease 20
1273 c WVR003 Weaver Syndrome 1 19
1274 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 18
1275 OST150 Osteodysplasia, Familial, Anderson Type 9
1276 c EZH002 Ezh2-Related Weaver Syndrome 5
1277 c SPN225 Spondyloarthropathy 1 61
1278 CFF002 Coffin-Lowry Syndrome 58
1279 KLP010 Klippel-Trenaunay-Weber Syndrome 55
1280 c THN010 Thanatophoric Dysplasia, Type Ii 51
1281 FRN039 Frank-Ter Haar Syndrome 36
1282 PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 28
1283 KYP002 Kyphomelic Dysplasia 25
1284 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 20
1285 SPH001 Sapho Syndrome 49
1286 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 48
1287 RHY001 Rhyns Syndrome 40
1288 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31
1289 c BRC047 Bruck Syndrome 1 28
1290 NST002 Nestor-Guillermo Progeria Syndrome 25
1291 GRR002 Gurrieri Syndrome 24
1292 BMR003 Beemer Ertbruggen Syndrome 7
1293 P PFF001 Pfeiffer Syndrome 71
1294 RVS001 Revesz Syndrome 40
1295 STY001 Satoyoshi Syndrome 28
1296 ACR002 Acrocapitofemoral Dysplasia 26
1297 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 18
1298 BRC095 Brachydactyly, Mononen Type 16
1299 PNT007 Penttinen-Aula Syndrome 6
1300 SRC014 Sarcoma 66
1301 c MCP037 Mucopolysaccharidosis is 65
1302 c MCP003 Mucopolysaccharidosis Vii 63
1303 c MCP009 Mucopolysaccharidosis Ii 62
1304 c MCP024 Mucopolysaccharidosis Type Vi 61
1305 RBR001 Roberts Syndrome 61
1306 c MCP004 Mucopolysaccharidosis Iv 60
1307 c MCP001 Mucopolysaccharidosis Iii 58
1308 c MCP041 Mucopolysaccharidosis Type Iiia 48
1309 P PLG001 Pelger-Huet Anomaly 46
1310 SYN031 Synovial Chondromatosis 42
1311 c MCP026 Mucopolysaccharidosis Type Iiib 41
1312 GRN016 Grant Syndrome 32
1313 c MCP020 Mucopolysaccharidosis Type Iiic 32
1314 c MCP023 Mucopolysaccharidosis Type Ivb 30
1315 c MCP014 Mucopolysaccharidosis Type Iiid 29
1316 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 26
1317 P SNG004 Singleton Merten Syndrome 25
1318 c BRC048 Bruck Syndrome 2 24
1319 c SNG011 Singleton-Merten Syndrome 1 23
1320 ACR044 Acroosteolysis Dominant Type 21
1321 VNB004 Van Buchem Disease, Type 2 20
1322 c SNG012 Singleton-Merten Syndrome 2 17
1323 c PSD024 Pseudo Pelger-Huet Anomaly 10
1324 BTT012 Battaglia-Neri Syndrome 7
1325 ALG005 Al Gazali Sabrinathan Nair Syndrome 6
1326 P CMR001 Camurati-Engelmann Disease 59
1327 RHM014 Rheumatoid Vasculitis 41
1328 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33
1329 BNM005 Bone Marrow Necrosis 31
1330 SCR025 Scarf Syndrome 21
1331 c CMR004 Camurati Engelmann Disease, Type 2 18
1332 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 17
1333 SHR023 Short Stature Syndrome, Brussels Type 17
1334 BRC018 Brachioskeletogenital Syndrome 16
1335 VND003 Van Den Bosch Syndrome 16
1336 CHN013 Chondrocalcinosis with Early-Onset Osteoarthritis 13
1337 2Q3001 2q37 Deletion Syndrome 12
1338 HNT009 Hunter-Mcalpine Syndrome 11
1339 PTT018 Petit-Fryns Syndrome 11
1340 VRL015 Verloes Van Maldergem Marneffe Syndrome 7
1341 RZN001 Rozin Hertz Goodman Syndrome 6
1342 CNT060 Central Serous Chorioretinopathy 42
1343 LYS017 Loeys-Dietz Syndrome 4 38
1344 IMM073 Immunoglobulin a Vasculitis 33
1345 3MC001 3mc Syndrome 2 25
1346 P TRC049 Tricho-Dento-Osseous Syndrome 22
1347 ANP010 Anaplastic Plasmacytoma 21
1348 c SPS042 Spastic Paraplegia 9 20
1349 c ATP003 Atp6v0a2-Related Cutis Laxa 19
1350 BNP001 Bone Peripheral Neuroepithelioma 17
1351 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 17
1352 ULN007 Ulna Metaphyseal Dysplasia Syndrome 16
1353 P CLL020 Collagenopathy Type 2 Alpha 1 13
1354 BNK001 Banki Syndrome 13
1355 c TYP019 Type Ii Collagenopathies 12
1356 DGH001 Doughnut Lesions of Skull, Familial 12
1357 CRT026 Cartilaginous Cancer 11
1358 VRL014 Verloes Bourguignon Syndrome 11
1359 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 10
1360 PRM035 Premature Aging Okamoto Type 10
1361 VNB002 Van Bogaert-Hozay Syndrome 10
1362 PNT008 Pointer Syndrome 8
1363 FYP001 Faye-Petersen-Ward-Carey Syndrome 8
1364 SKL009 Skeletal Dysplasia, San Diego Type 8
1365 c CLL016 Collagenopathy, Types Ii and Xi 7
1366 PNS013 Panostotic Fibrous Dysplasia 7
1367 SKL024 Skeletal-Extraskeletal Angiomatosis 6
1368 HKF001 Ho Kaufman Mcalister Syndrome 5
1369 MCH009 Michels Caskey Syndrome 5
1370 c TRC050 Tricho-Dento-Osseous Syndrome 1 4
1371 CTK001 Cote Katsantoni Syndrome 4
1372 WDM002 Wiedemann Oldigs Oppermann Syndrome 4
1373 KZL005 Kozlowski Warren Fisher Syndrome 4
1374 MGR005 Megarbane Syndrome 4
1375 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 4
1376 VGN025 Vagneur Triolle Ripert Syndrome 4
1377 THD001 Theodor Hertz Goodman Syndrome 4
1378 ALS004 Alsing Syndrome 3
1379 RGN002 Reginato Shiapachasse Syndrome 3
1380 LCK002 Lockwood Feingold Syndrome 3
1381 SLV009 Slavotinek Pike Mills Hurst Syndrome 3
1382 SND004 Sandhaus Ben-Ami Syndrome 3
1383 CHT003 Chitty Hall Webb Syndrome 3
1384 SKL010 Skeleto Cardiac Syndrome with Thrombocytopenia 2
1385 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 2
1386 OST060 Osteosclerosis Abnormalities of Nervous System and Meninges 2
1387 c SYS001 Systemic Lupus Erythematosus 86
1388 P MLT019 Multiple Myeloma 82
1389 MRF001 Marfan Syndrome 74
1390 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1391 c FNC027 Fanconi Anemia, Complementation Group a 71
1392 CRZ001 Crouzon Syndrome 70
1393 APR006 Apert Syndrome 68
1394 P CRN015 Cornelia De Lange Syndrome 64
1395 INC002 Inclusion Body Myositis 63
1396 P LPS004 Lupus Erythematosus 63
1397 HTC002 Hutchinson-Gilford Progeria 63
1398 FBR011 Fibrodysplasia Ossificans Progressiva 63
1399 BHC003 Behcet Syndrome 62
1400 P CLD001 Cleidocranial Dysplasia 62
1401 WGN006 Wegener Granulomatosis 61
1402 TKY002 Takayasu Arteritis 60
1403 LDD001 Ladd Syndrome 60
1404 P PNC044 Pancreatitis 60
1405 P HLT001 Holt-Oram Syndrome 60
1406 MNK003 Muenke Syndrome 60
1407 ADL030 Adult-Onset Still's Disease 60
1408 ELL001 Ellis-Van Creveld Syndrome 59
1409 P FCS002 Fucosidosis 59
1410 HYP042 Hypochondroplasia 58
1411 CMP005 Campomelic Dysplasia 58
1412 P HYP035 Hypophosphatasia 57
1413 c PNC108 Pancreatitis, Hereditary 57
1414 c EHL033 Ehlers-Danlos Syndrome, Classic Type 57
1415 P OCL013 Oculodentodigital Dysplasia 57
1416 P STC001 Stickler Syndrome 56
1417 MVL001 Mevalonic Aciduria 56
1418 ASP002 Aspartylglucosaminuria 56
1419 c ACT027 Acute Pancreatitis 56
1420 SHP002 Shprintzen-Goldberg Syndrome 55
1421 P CRP007 Carpenter Syndrome 55
1422 CFF003 Caffey Disease 55
1423 SPT004 Septic Arthritis 55
1424 P HLL001 Hallermann-Streiff Syndrome 55
1425 MLT135 Multiple Sulfatase Deficiency 54
1426 SDC002 Sed Congenita 54
1427 ERD001 Erdheim-Chester Disease 54
1428 P SCK004 Seckel Syndrome 54
1429 c MNN025 Mannosidosis, Alpha-, Types I and Ii 54
1430 P TRC072 Treacher Collins Syndrome 1 54
1431 HMF006 Hemifacial Microsomia 54
1432 ASP005 Asphyxiating Thoracic Dystrophy 53
1433 P LRS001 Larsen Syndrome 53
1434 CSY001 C Syndrome 53
1435 SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 52
1436 c GNG001 Gangliosidosis Gm1 52
1437 P PLY041 Polymyositis 52
1438 CHR619 Chromosome 2q35 Duplication Syndrome 52
1439 PSD012 Pseudoachondroplasia 52
1440 ACR011 Acromesomelic Dysplasia, Maroteaux Type 51
1441 RLP001 Relapsing Polychondritis 51
1442 MCR088 Microscopic Polyangiitis 51
1443 GRG001 Greig Cephalopolysyndactyly Syndrome 51
1444 P PLY017 Polyarteritis Nodosa 51
1445 BLL001 Baller-Gerold Syndrome 51
1446 P PRX021 Proximal Symphalangism 50
1447 SCH002 Schnitzler Syndrome 50
1448 c EHL032 Ehlers-Danlos Syndrome, Type Viib 50
1449 P CRN108 Cranioectodermal Dysplasia 1 50
1450 P ADM011 Adams-Oliver Syndrome 50
1451 MLL012 Miller Syndrome 50
1452 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 50
1453 PYC001 Pycnodysostosis 50
1454 P FBR025 Fibrochondrogenesis 50
1455 ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49
1456 ERY017 Erythema Elevatum Diutinum 49
1457 ACR013 Acrodysostosis 49
1458 JCK001 Jackson-Weiss Syndrome 49
1459 PGM001 Pigmented Villonodular Synovitis 49
1460 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49
1461 GLC012 Galactosialidosis 49
1462 THR104 Thrombophilia Due to Antithrombin Iii Deficiency 48
1463 ESN015 Eosinophilic Fasciitis 48
1464 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1465 c ORF037 Orofaciodigital Syndrome I 48
1466 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 48
1467 P WLL002 Weill-Marchesani Syndrome 48
1468 ULN003 Ulnar-Mammary Syndrome 47
1469 MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47
1470 CGN006 Cogan Syndrome 47
1471 c BRC078 Brachydactyly, Type A1 47
1472 CLC001 Calciphylaxis 47
1473 P SCL048 Sclerosteosis 46
1474 SPN020 Spondylosis 46
1475 CRN248 Craniofrontonasal Dysplasia 46
1476 c MCL046 Mucolipidosis Iii Alpha/beta 46
1477 MLT145 Multiple Enchondromatosis, Maffucci Type 46
1478 P CRN012 Craniometaphyseal Dysplasia 46
1479 PYL017 Pyle Disease 46
1480 c MNN044 Mannosidosis, Beta 46
1481 YNS002 Yunis-Varon Syndrome 45
1482 c AMY009 Amyloidosis Aa 45
1483 HYP088 Hyper-Igd Syndrome 45
1484 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 45
1485 HND003 Hand-Foot-Uterus Syndrome 45
1486 P ORF001 Orofaciodigital Syndrome 45
1487 P SPN250 Spondyloepimetaphyseal Dysplasia 45
1488 FHR001 Fuhrmann Syndrome 45
1489 P CHL092 Chilblain Lupus 45
1490 c BRC079 Brachydactyly, Type A2 44
1491 P SLD010 Sialidosis, Type I 44
1492 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
1493 c ACH033 Achondrogenesis, Type Ia 44
1494 c ACH035 Achondrogenesis Ib 43
1495 P FRN012 Frontometaphyseal Dysplasia 43
1496 c SPL024 Split-Hand/foot Malformation 3 43
1497 PLS030 Plasminogen Deficiency, Type I 43
1498 DPN005 Du Pan Syndrome 43
1499 c ORF034 Orofaciodigital Syndrome Vi 42
1500 c CRN139 Cornelia De Lange Syndrome 1 42
1501 P CRN013 Craniodiaphyseal Dysplasia 42
1502 c BRC082 Brachydactyly, Type E 42
1503 SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 42
1504 CNN011 Cenani-Lenz Syndactyly Syndrome 42
1505 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
1506 ANT039 Antisynthetase Syndrome 42
1507 ACR058 Acrofacial Dysostosis 1, Nager Type 41
1508 P CPL003 Capillary Leak Syndrome 41
1509 LRW001 Leri-Weill Dyschondrosteosis 41
1510 SMD002 Smed Strudwick Type 41
1511 CRR002 Currarino Syndrome 41
1512 WLC001 Wolcott-Rallison Syndrome 41
1513 c RBN009 Robinow Syndrome, Autosomal Recessive 41
1514 SPN060 Spondylocarpotarsal Synostosis Syndrome 40
1515 c RCR022 Recurrent Acute Pancreatitis 40
1516 P ACH011 Achondrogenesis 40
1517 MCR225 Macrophage Activation Syndrome 40
1518 c GM1004 Gm1-Gangliosidosis, Type I 40
1519 c SPN330 Spondylocostal Dysostosis 5 40
1520 P SYN012 Synpolydactyly 39
1521 c OTP007 Otopalatodigital Syndrome, Type Ii 39
1522 c LRS002 Larsen-Like Syndrome 39
1523 HYL004 Hyaline Fibromatosis Syndrome 39
1524 P MLT072 Multiple Synostoses Syndrome 38
1525 PYM001 Pyomyositis 38
1526 ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 38
1527 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 38
1528 ACH001 Acheiropody 38
1529 TTR016 Tetra-Amelia Syndrome 38
1530 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
1531 c OTP006 Otopalatodigital Syndrome, Type I 38
1532 c SYN061 Syndactyly, Type Iv 38
1533 P PRK003 Parkes Weber Syndrome 38
1534 c SYS061 Systemic Lupus Erythematosus 16 38
1535 c STC015 Stickler Syndrome, Type I 38
1536 c BRC081 Brachydactyly, Type C 37
1537 DPH019 Diaphanospondylodysostosis 37
1538 ACR041 Acromelic Frontonasal Dysostosis 37
1539 MLR003 Melorheostosis 37
1540 WYR002 Weyers Acrofacial Dysostosis 37
1541 HYP315 Hyperparathyroidism, Neonatal 37
1542 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1543 c RBN018 Robinow Syndrome, Autosomal Dominant 1 36
1544 c CRP022 Carpenter Syndrome 2 35
1545 c BRC051 Brachydactyly, Type B1 35
1546 P SYN059 Syndactyly, Type V 35
1547 LNG040 Langer Mesomelic Dysplasia 35
1548 CHN057 Chondrodysplasia, Grebe Type 35
1549 TRS002 Tarsal-Carpal Coalition Syndrome 35
1550 P DSB002 Desbuquois Dysplasia 35
1551 OPS002 Opsismodysplasia 35
1552 STV004 Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome 35
1553 P CHN044 Chondrodysplasia Punctata Syndrome 35
1554 P SPL061 Split Hand-Foot Malformation 35
1555 c MLT059 Multiple Synostoses Syndrome 1 35
1556 c RBN017 Robinow Syndrome, Autosomal Dominant 2 35
1557 P SMT009 Smith-Mccort Dysplasia 35
1558 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 35
1559 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
1560 XNT009 Xanthoma Disseminatum 34
1561 c GM1006 Gm1-Gangliosidosis, Type Iii 34
1562 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34
1563 c GM1005 Gm1-Gangliosidosis, Type Ii 34
1564 P ANX007 Anauxetic Dysplasia 1 34
1565 CTL005 Catel-Manzke Syndrome 33
1566 c DSB006 Desbuquois Dysplasia 1 33
1567 SPL048 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 33
1568 DYS048 Dysplasia Epiphysealis Hemimelica 33
1569 c STC013 Stickler Syndrome, Type Ii 33
1570 P FRN036 Frontonasal Dysplasia 1 33
1571 LRN006 Laurin-Sandrow Syndrome 33
1572 DSM002 Desmosterolosis 33
1573 P CRB154 Cerebrocostomandibular Syndrome 33
1574 ATN011 Autoinflammation with Infantile Enterocolitis 33
1575 MTT002 Metatropic Dysplasia 33
1576 SCH030 Schneckenbecken Dysplasia 32
1577 c SYS043 Systemic Lupus Erythematosus 1 32
1578 c FNC028 Fanconi Anemia, Complementation Group L 32
1579 c WLL027 Weill-Marchesani Syndrome 1, Recessive 32
1580 PSR016 Psoriatic Juvenile Idiopathic Arthritis 32
1581 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 31
1582 SPN154 Spondyloperipheral Dysplasia 31
1583 c SPL062 Split Hand-Foot Malformation 1 31
1584 HYP596 Hypophosphatasia, Childhood 31
1585 c CRN221 Craniosynostosis 4 31
1586 P PRD037 Periodontal Ehlers-Danlos Syndrome 31
1587 TNS014 Tenosynovitis 31
1588 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 31
1589 c WLL026 Weill-Marchesani Syndrome 2, Dominant 30
1590 P GNG010 Gangliosidosis Gm2 30
1591 c FNC046 Fanconi Anemia, Complementation Group P 30
1592 FMR018 Femoral-Facial Syndrome 30
1593 EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 30
1594 ACR016 Acromesomelic Dysplasia 30
1595 P MTP005 Metaphyseal Anadysplasia 30
1596 PRD012 Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 30
1597 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 30
1598 c ADM005 Adams-Oliver Syndrome 1 30
1599 LMB008 Limb-Mammary Syndrome 29
1600 c FML117 Familial Cold Autoinflammatory Syndrome 2 29
1601 c SYS007 Systemic Capillary Leak Syndrome 29
1602 c ATS082 Autosomal Dominant Robinow Syndrome 29
1603 c FNC029 Fanconi Anemia, Complementation Group I 29
1604 ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 28
1605 IMM101 Immunodeficiency 38 28
1606 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
1607 MTC018 Metachondromatosis 28
1608 MLG141 Malignant Atrophic Papulosis 28
1609 c PLY058 Polydactyly, Preaxial Type Ii 28
1610 CLV004 Calvarial Hyperostosis 28
1611 NRG003 Neurogenic Arthropathy 28
1612 c CRN134 Cornelia De Lange Syndrome 2 28
1613 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 28
1614 c CRN135 Cornelia De Lange Syndrome 3 28
1615 c FNC023 Fanconi Anemia, Complementation Group N 28
1616 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 28
1617 c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27
1618 SHR098 Short-Rib Thoracic Dysplasia 12 27
1619 SDM002 Sed, Maroteaux Type 27
1620 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1621 MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 27
1622 FRN022 Frontofacionasal Dysplasia 27
1623 c CRN215 Cornelia De Lange Syndrome 4 27
1624 c SYS038 Systemic Lupus Erythematosus 2 27
1625 c CRN209 Cornelia De Lange Syndrome 5 27
1626 P SYN075 Syngnathia 27
1627 c SYN060 Syndactyly, Type Iii 27
1628 P RDL006 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 27
1629 PLY112 Polyarteritis Nodosa, Childhood-Onset 26
1630 SHR042 Short Stature, Idiopathic Familial 26
1631 WLD004 Wildervanck Syndrome 26
1632 EF001 Eaf 26
1633 MSM016 Mesomelic Dysplasia, Kantaputra Type 26
1634 c DGT005 Digital Arthropathy-Brachydactyly, Familial 26
1635 DYG001 Dyggve-Melchior-Clausen Disease 26
1636 CTN019 Cutaneous Polyarteritis Nodosa 26
1637 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 26
1638 MTP028 Metaphyseal Dysplasia, Spahr Type 26
1639 STN012 Sting-Associated Vasculopathy, Infantile-Onset 26
1640 PRS051 Parastremmatic Dwarfism 26
1641 DYS045 Dysosteosclerosis 26
1642 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 26
1643 P XLN161 X-Linked Chondrodysplasia Punctata 26
1644 HMR015 Humeroradial Synostosis 26
1645 UND007 Undifferentiated Connective Tissue Disease 26
1646 PRP090 Peripheral Dysostosis 26
1647 TBL008 Tibial Hemimelia 25
1648 c CRN111 Cranioectodermal Dysplasia 4 25
1649 c ADM009 Adams-Oliver Syndrome 4 25
1650 CTS022 Catshl Syndrome 25
1651 c DSB005 Desbuquois Dysplasia 2 25
1652 c FNC025 Fanconi Anemia, Complementation Group J 25
1653 c BRC045 Brachyolmia Type 3 25
1654 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
1655 MSM004 Mesomelia-Synostoses Syndrome 25
1656 c FRN049 Frontometaphyseal Dysplasia 1 25
1657 FBR028 Fibrosing Mediastinitis 25
1658 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 25
1659 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 25
1660 c TRC071 Treacher Collins Syndrome 3 24
1661 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 24
1662 c CRN110 Cranioectodermal Dysplasia 3 24
1663 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1664 HYP648 Hypertension and Brachydactyly Syndrome 24
1665 c PLY121 Polydactyly, Preaxial, Type Iv 24
1666 c ORF036 Orofaciodigital Syndrome Xiv 24
1667 c FNC048 Fanconi Anemia, Complementation Group O 24
1668 c RBN020 Robinow Syndrome, Autosomal Dominant 3 24
1669 c ADM007 Adams-Oliver Syndrome 2 24
1670 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 24
1671 c CRN109 Cranioectodermal Dysplasia 2 24
1672 c ADM008 Adams-Oliver Syndrome 3 24
1673 BRN123 Branchial Arch Syndrome, X-Linked 24
1674 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 24
1675 NVR001 Nievergelt Syndrome 24
1676 EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 24
1677 c TRC073 Treacher Collins Syndrome 2 24
1678 ACR099 Acrofacial Dysostosis, Catania Type 24
1679 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
1680 c WLL011 Weill-Marchesani-Like Syndrome 24
1681 ATN010 Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome 24
1682 WSM003 Weismann-Netter Syndrome 24
1683 FMR016 Femur-Fibula-Ulna Syndrome 24
1684 c ADM010 Adams-Oliver Syndrome 5 24
1685 c SYS046 Systemic Lupus Erythematosus 3 24
1686 ACR025 Acrocephalopolydactylous Dysplasia 23
1687 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23
1688 TMP008 Tempi Syndrome 23
1689 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 23
1690 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 23
1691 c SYS041 Systemic Lupus Erythematosus 9 23
1692 HYP682 Hypertelorism, Teebi Type 23
1693 c FNC047 Fanconi Anemia, Complementation Group Q 23
1694 PSD030 Pseudodiastrophic Dysplasia 23
1695 NCR009 Necrobiotic Xanthogranuloma 23
1696 c SYS053 Systemic Lupus Erythematosus 5 23
1697 c FML270 Familial Cold Autoinflammatory Syndrome 4 22
1698 INT189 Interstitial Granulomatous Dermatitis with Arthritis 22
1699 c FNC058 Fanconi Anemia, Complementation Group R 22
1700 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 22
1701 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 22
1702 c MLT060 Multiple Synostoses Syndrome 2 22
1703 c SYS051 Systemic Lupus Erythematosus 4 22
1704 c SYS040 Systemic Lupus Erythematosus 10 22
1705 c CMP072 Camptodactyly Syndrome, Guadalajara, Type I 22
1706 c SYS055 Systemic Lupus Erythematosus 12 22
1707 ACR079 Acrodysostosis with Multiple Hormone Resistance 22
1708 c WLL025 Weill-Marchesani Syndrome 3, Recessive 22
1709 CLC002 Calcaneonavicular Coalition 22
1710 SPN348 Spondylometaphyseal Dysplasia, Axial 22
1711 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 22
1712 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 22
1713 c FRN048 Frontometaphyseal Dysplasia 2 22
1714 c ADM012 Adams-Oliver Syndrome 6 22
1715 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 22
1716 c FBR029 Fibrochondrogenesis 1 22
1717 HMF010 Hemifacial Microsomia with Radial Defects 22
1718 OCL040 Oculomaxillofacial Dysostosis 21
1719 c SMT018 Smith-Mccort Dysplasia 2 21
1720 SPN379 Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type 21
1721 c FBR030 Fibrochondrogenesis 2 21
1722 AMN014 Aminopterin Syndrome Sine Aminopterin 21
1723 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 21
1724 SMM003 Summitt Syndrome 21
1725 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 21
1726 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 21
1727 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 21
1728 c RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 21
1729 ZNC006 Zinc, Elevated Plasma 21
1730 c MLT078 Multiple Synostoses Syndrome 3 21
1731 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 21
1732 SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 21
1733 P FNC052 Fanconi Anemia, Complementation Group T 21
1734 AKL001 Au-Kline Syndrome 20
1735 FML307 Familial Calcium Pyrophosphate Deposition 20
1736 FCC003 Faciocardiomelic Dysplasia, Lethal 20
1737 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 20
1738 ACR019 Acropectoral Syndrome 20
1739 c JVN046 Juvenile Polymyositis 20
1740 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 20
1741 c SYS067 Systemic Lupus Erythematosus 15 20
1742 c BRC099 Brachydactyly, Type A4 19
1743 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 19
1744 c SYM022 Symphalangism, Proximal, 1a 19
1745 OSB001 Osebold-Remondini Syndrome 19
1746 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 19
1747 JRG001 Jorgenson Lenz Syndrome 19
1748 RMR001 Ramer Ladda Syndrome 19
1749 VSC050 Vascular Malformation, Primary Intraosseous 19
1750 MTC100 Metacarpal 4-5 Fusion 19
1751 TBS009 Teebi-Shaltout Syndrome 19
1752 c FNC057 Fanconi Anemia, Complementation Group U 19
1753 ACR108 Acrocephalopolysyndactyly Type Iv 19
1754 c ORF045 Orofaciodigital Syndrome Xv 19
1755 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 19
1756 ULN005 Ulna and Fibula, Hypoplasia of 19
1757 CHR588 Chromosome 8q22.1 Duplication Syndrome 19
1758 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 19
1759 HSH001 Hashimoto-Pritzker Syndrome 19
1760 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 19
1761 MSM019 Mesomelic Dysplasia, Savarirayan Type 19
1762 c FML337 Familial Chilblain Lupus 19
1763 c SYS048 Systemic Lupus Erythematosus 8 19
1764 PLY135 Polydactyly, Postaxial, with Progressive Myopia 19
1765 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 18
1766 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 18
1767 ACR107 Acrofacial Dysostosis, Palagonia Type 18
1768 c CHL114 Chilblain Lupus 2 18
1769 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 18
1770 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 18
1771 c SYS045 Systemic Lupus Erythematosus 14 18
1772 c FNC056 Fanconi Anemia, Complementation Group V 18
1773 SYM024 Symphalangism, Distal 18
1774 TBT001 Tabatznik Syndrome 18
1775 c SYS065 Systemic Lupus Erythematosus 11 18
1776 KLB002 Kleeblattschaedel Syndrome 18
1777 KNS006 Kniest-Like Dysplasia, Lethal 18
1778 c SYS047 Systemic Lupus Erythematosus 7 17
1779 THR021 Thrombophilia Due to Hrg Deficiency 17
1780 SCH031 Scholte Syndrome 17
1781 APH015 Aphalangy with Hemivertebrae 17
1782 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1783 c SYM019 Symphalangism, Proximal, 1b 17
1784 HMR016 Humeroradioulnar Synostosis 17
1785 DYS180 Dyschondrosteosis and Nephritis 17
1786 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 17
1787 ADC008 Adactylia, Unilateral 17
1788 SPN349 Spondylometaphyseal Dysplasia, Type A4 17
1789 c PLY136 Polydactyly, Preaxial I 17
1790 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 17
1791 THR033 Thoracomelic Dysplasia 16
1792 BRC100 Brachydactyly, Combined B and E Types 16
1793 PLY132 Polysyndactyly, Crossed 16
1794 c SYS052 Systemic Lupus Erythematosus 13 16
1795 THR032 Thoracolaryngopelvic Dysplasia 16
1796 c MTP014 Metaphyseal Anadysplasia 2 16
1797 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 16
1798 DYS049 Dysplastic Cortical Hyperostosis 16
1799 SPN353 Spondylometaphyseal Dysplasia, X-Linked 16
1800 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16
1801 LTH005 Lethal Chondrodysplasia Moerman Type 16
1802 NNT044 Neonatal Antiphospholipid Syndrome 16
1803 c CHN018 Chondrodysplasia Punctata 2, X-Linked 16
1804 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 16
1805 c PLY137 Polydactyly, Preaxial Iii 16
1806 OCL030 Oculoauriculofrontonasal Syndrome 16
1807 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 16
1808 c ORF046 Orofaciodigital Syndrome Xvi 16
1809 CMP016 Camptobrachydactyly 16
1810 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 15
1811 CHR159 Charlie M Syndrome 15
1812 c ANX008 Anauxetic Dysplasia 2 15
1813 SCL051 Scalp Defects and Postaxial Polydactyly 15
1814 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 15
1815 OTN001 Otoonychoperoneal Syndrome 15
1816 CLD006 Cleidorhizomelic Syndrome 15
1817 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 15
1818 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 15
1819 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 15
1820 GNC010 Genochondromatosis 15
1821 LNG102 Long-Thumb Brachydactyly Syndrome 15
1822 SPN357 Spondyloepimetaphyseal Dysplasia, Micromelic 15
1823 HRR003 Herrmann Opitz Craniosynostosis 15
1824 c ATM063 Autoimmune Pancreatitis Type 2 15
1825 c ENG003 Eng-Related Hereditary Hemorrhagic Telangiectasia 14
1826 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 14
1827 MMB012 Membranous Cranial Ossification, Delayed 14
1828 ECT086 Ectrodactyly-Polydactyly 14
1829 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 14
1830 SPN120 Spondylocamptodactyly 14
1831 RDL030 Radial-Renal Syndrome 14
1832 TTR010 Tetramelic Monodactyly 14
1833 CHN027 Chondrodysplasia Lethal Recessive 14
1834 DRG017 Drug-Induced Vasculitis 14
1835 CXR001 Coxoauricular Syndrome 14
1836 c CMP021 Camptodactyly Syndrome Guadalajara Type 3 13
1837 c RBN010 Robinow-Like Syndrome 13
1838 PST104 Postaxial Oligodactyly, Tetramelic 13
1839 HRD147 Hereditary Thrombophilia Due to Congenital Protein S Deficiency 13
1840 c ACV002 Acvrl1-Related Hereditary Hemorrhagic Telangiectasia 13
1841 c NPB001 Nipbl-Related Cornelia De Lange Syndrome 13
1842 AST010 Astley-Kendall Syndrome 13
1843 ACR027 Acrodysplasia Scoliosis 13
1844 TRC112 Trochlea of the Humerus, Aplasia of 13
1845 UNC016 Unclassified Vasculitis 12
1846 P CLS050 Classical-Like Ehlers-Danlos Syndrome 12
1847 c CHN017 Chondrodysplasia Punctata 1, X-Linked 12
1848 GGN006 Gigantiform Cementoma, Familial 11
1849 P GDL001 Guadalajara Camptodactyly Syndrome 11
1850 c TBX001 Tbx5-Related Holt-Oram Syndrome 11
1851 P DGT007 Digital Arthropathy-Brachydactyly 10
1852 CRN087 Craniomicromelic Syndrome 10
1853 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
1854 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
1855 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 9
1856 c ORF039 Orofaciodigital Syndrome Vii 9
1857 IGG017 Igg4-Related Hepatopathy 9
1858 c CLD005 Cleidocranial Dysplasia Recessive Form 9
1859 c LTB002 Ltbp2-Related Weill-Marchesani Syndrome 9
1860 c FCS008 Fucosidosis Type 1 9
1861 c SMC001 Smc1a-Related Cornelia De Lange Syndrome 9
1862 c HLL012 Hallermann-Streiff-Like Syndrome 9
1863 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 9
1864 c RD2001 Rad21-Related Cornelia De Lange Syndrome 8
1865 c PLR010 Polr1c-Related Treacher Collins Syndrome 8
1866 CND008 Condensing Osteitis of the Clavicle 8
1867 c FBN002 Fbn1-Related Weill-Marchesani Syndrome 8
1868 c ITG003 Itgam-Related Susceptibility to Systemic Lupus Erythematosus 8
1869 SGR001 Sugarman Brachydactyly 8
1870 c PLR011 Polr1d-Related Treacher Collins Syndrome 8
1871 c TCF001 Tcof1-Related Treacher Collins Syndrome 8
1872 c PRS050 Prss1-Related Hereditary Pancreatitis 8
1873 c CFT002 Cftr-Related Hereditary Pancreatitis 8
1874 c CTR042 Ctrc-Related Hereditary Pancreatitis 8
1875 c SPN164 Spink1-Related Hereditary Pancreatitis 8
1876 c GDF001 Gdf2-Related Hereditary Hemorrhagic Telangiectasia 8
1877 EHL037 Ehlers-Danlos Syndrome, Vascular-Like Type 8
1878 IGG012 Igg4-Related Submandibular Gland Disease 8
1879 c RR2001 Ror2-Related Robinow Syndrome 8
1880 MLH001 Melhem Fahl Syndrome 7
1881 NRD020 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion 7
1882 c CR2002 Cr2-Related Susceptibility to Systemic Lupus Erythematosus 7
1883 WBS001 Webster Deming Syndrome 7
1884 c SMC002 Smc3-Related Cornelia De Lange Syndrome 7
1885 BNL004 Benallegue Lacete Syndrome 7
1886 c LRS005 Larsen Syndrome, Autosomal Recessive 7
1887 c SMD005 Smad4-Related Hereditary Hemorrhagic Telangiectasia 7
1888 NNT046 Neonatal Dermatomyositis 7
1889 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
1890 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 7
1891 c SPN371 Spondyloepimetaphyseal Dysplasia, Matn3-Related 6
1892 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 6
1893 c EHL023 Ehlers-Danlos Syndrome, Classic Type, Col5a1-Related 6
1894 c EHL024 Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related 6
1895 NNT043 Neonatal Scleroderma 6
1896 IMP008 Imperforate Oropharynx-Costo Vetebral Anomalies 6
1897 c ADM006 Adamts10-Related Weill-Marchesani Syndrome 6
1898 c DNS006 Dnase1-Related Susceptibility to Systemic Lupus Erythematosus 6
1899 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
1900 c HDC004 Hdac8-Related Cornelia De Lange Syndrome 6
1901 c CRB078 Cerebrocostomandibular-Like Syndrome 5
1902 c IGH002 Igh-Related Multiple Myeloma 5
1903 c SYC001 Say Carpenter Syndrome 5
1904 c EHL022 Ehlers-Danlos Syndrome, Classic Type, Col1a1-Related 5
1905 c PRK016 Parkes Weber Syndrome, Rasa1-Related 5
1906 PST098 Postinfectious Vasculitis 5
1907 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
1908 c SYN028 Syngnathia Multiple Anomalies 4
1909 c SLL007 Sall4-Related Holt-Oram Syndrome 4
1910 c OCL037 Oculodentodigital Dysplasia Dominant 4
1911 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 42
1912 P APL001 Aplastic Anemia 74
1913 SHW002 Shwachman-Diamond Syndrome 61
1914 c APL021 Aplastic Anemia, Ifng-Related 5
1915 c APL031 Aplastic Anemia, Prf1-Related 5
1916 P DNT011 Dentinogenesis Imperfecta 43
1917 c DNT047 Dentinogenesis Imperfecta Type 2 14
1918 c DNT048 Dentinogenesis Imperfecta Type 3 12
1919 P HYP345 Hyper-Ige Recurrent Infection Syndrome 54
1920 TTH001 Tooth Ankylosis 37
1921 c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 32
1922 KSK002 Kosaki Overgrowth Syndrome 20
1923 BSL036 Basal Cell Nevus Syndrome 67
1924 P NTR004 Neutropenia 58
1925 c SVR003 Severe Congenital Neutropenia 56
1926 c NTR038 Neutropenia, Severe Congenital 3, Autosomal Recessive 42
1927 c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32
1928 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
1929 c NTR033 Neutropenia, Severe Congenital 1, Autosomal Dominant 26
1930 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 23
1931 c NTR037 Neutropenia, Severe Congenital 2, Autosomal Dominant 22
1932 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 19
1933 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 19
1934 c NTR008 Neutropenia Chronic Familial 16
1935 c ELN001 Elane-Related Neutropenia 9
1936 ACH018 Achondroplasia and Severe Combined Immunodeficiency 7
1937 c GT1005 Gata1-Related Neutropenia 6
1938 PMS001 Poems Syndrome 51
1939 MYL048 Myelodysplasia and Leukemia Syndrome with Monosomy 7 26
1940 CMP075 Campomelia, Cumming Type 23
1941 c FML048 Familial Avascular Necrosis of the Femoral Head 19
1942 CRN070 Corneodermatoosseous Syndrome 19
1943 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 11
1944 EWN002 Ewing's Family of Tumors 45
1945 c ORF040 Orofaciodigital Syndrome Viii 43
1946 CNT099 Contractural Arachnodactyly, Congenital 41
1947 3MC003 3mc Syndrome 41
1948 MND001 Mandibular Cancer 33
1949 c ORF035 Orofaciodigital Syndrome Iv 26
1950 THY064 Thyroid Hormone Metabolism, Abnormal 25
1951 c ORF033 Orofaciodigital Syndrome V 24
1952 c ORF041 Orofaciodigital Syndrome X 23
1953 c ORF038 Orofaciodigital Syndrome Iii 22
1954 c ORF043 Orofaciodigital Syndrome Ix 21
1955 c ORF042 Orofaciodigital Syndrome Xi 19
1956 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 19
1957 ARC009 Auriculoosteodysplasia 16
1958 MXL001 Maxillary Neoplasm 14
1959 c ORF006 Orofaciodigital Syndrome 13 13
1960 c ORF005 Orofaciodigital Syndrome 12 12
1961 SCK003 Sickle Cell Anemia 71
1962 KWS002 Kawasaki Disease 67
1963 P GCH001 Gaucher's Disease 63
1964 RCT015 Reactive Arthritis 63
1965 P INF037 Inflammatory Bowel Disease 62
1966 P SYS005 Systemic Scleroderma 61
1967 P SRC025 Sarcoidosis 1 61
1968 CNC002 Cinca Syndrome 61
1969 P TMP003 Temporal Arteritis 61
1970 P FML161 Familial Mediterranean Fever, Ar 61
1971 MXD005 Mixed Connective Tissue Disease 61
1972 c LCL006 Localized Scleroderma 60
1973 P STH001 Saethre-Chotzen Syndrome 60
1974 c EHL057 Ehlers-Danlos Syndrome, Type Iv 59
1975 STR026 Star Syndrome 59
1976 CHL071 Child Syndrome 59
1977 P DRM010 Dermatomyositis 59
1978 IMG001 Image Syndrome 58
1979 THR009 Thrombocytopenia-Absent Radius Syndrome 58
1980 P RCK004 Rickets 57
1981 ADL002 Adult Syndrome 57
1982 DHY002 Dihydropyrimidine Dehydrogenase Deficiency 56
1983 PRD019 Periodic Fever, Familial 56
1984 c HRD002 Hereditary Angioedema 56
1985 PLN006 Poland Syndrome 54
1986 c GCH015 Gaucher Disease, Type I 54
1987 P MCK022 Meckel Syndrome 1 54
1988 HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53
1989 MND007 Mandibuloacral Dysplasia 51
1990 RYN003 Reynolds Syndrome 51
1991 LKC005 Leukocyte Adhesion Deficiency, Type Iii 51
1992 P TRC086 Trichohepatoenteric Syndrome 1 51
1993 P FML052 Familial Cold Autoinflammatory Syndrome 50
1994 PYD001 Pyoderma Gangrenosum 50
1995 RYS001 Reye Syndrome 50
1996 KMR001 Kimura Disease 50
1997 HYP074 Hypersensitivity Vasculitis 48
1998 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1999 SND002 Sneddon Syndrome 48
2000 P FML068 Familial Hypocalciuric Hypercalcemia 47
2001 c GCH017 Gaucher Disease, Type Iii 47
2002 P MRG008 Meier-Gorlin Syndrome 1 47
2003 LMT001 Limited Scleroderma 46
2004 MLT016 Multicentric Reticulohistiocytosis 46
2005 P CRB019 Cerebral Amyloid Angiopathy 46
2006 P BRT029 Brittle Cornea Syndrome 2 45
2007 UND005 Undifferentiated Pleomorphic Sarcoma 44
2008 c GCH016 Gaucher Disease, Type Ii 43
2009 CHL028 Childhood Type Dermatomyositis 43
2010 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42
2011 c INF086 Inflammatory Bowel Disease 3 41
2012 c INF087 Inflammatory Bowel Disease 4 41
2013 RPD002 Rapadilino Syndrome 40
2014 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 40
2015 c HYP317 Hypocalciuric Hypercalcemia, Type Ii 39
2016 c HYP314 Hypocalciuric Hypercalcemia, Type I 39
2017 c HYP725 Hypocalciuric Hypercalcemia, Type Iii 38
2018 c PSR021 Psoriasis 14, Pustular 38
2019 P AMY084 Amyloidosis, Finnish Type 37
2020 c INF095 Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive 37
2021 c ADL027 Adult Dermatomyositis 37
2022 P PST059 Pustular Psoriasis 36
2023 P ISL078 Isolated Ectopia Lentis 36
2024 c SRC023 Sarcoidosis 2 36
2025 LYS018 Loeys-Dietz Syndrome 2 35
2026 c INF089 Inflammatory Bowel Disease 6 35
2027 HYP193 Hypocomplementemic Urticarial Vasculitis 34
2028 c EHL027 Ehlers-Danlos Syndrome, Type Viic 34
2029 WRN004 Wrinkly Skin Syndrome 34
2030 KKC001 Kikuchi Disease 34
2031 c TRC078 Trichohepatoenteric Syndrome 2 34
2032 c INF092 Inflammatory Bowel Disease 9 33
2033 CSN001 Cousin Syndrome 33
2034 c FML253 Familial Cold Autoinflammatory Syndrome 3 33
2035 c INF078 Inflammatory Bowel Disease 2 32
2036 CRB074 Cerebral Sarcoma 32
2037 c RBN021 Rubinstein-Taybi Syndrome 1 32
2038 DQR001 De Quervain Disease 32
2039 c INF088 Inflammatory Bowel Disease 5 32
2040 CRB096 Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants 32
2041 SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 31
2042 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
2043 MHR002 Mohr Syndrome 31
2044 RFM001 Roifman Syndrome 29
2045 c GCH013 Gaucher Disease, Type Iiic 29
2046 c INF075 Inflammatory Bowel Disease 16 29
2047 c SCL052 Scleroderma, Familial Progressive 29
2048 IVC001 Ivic Syndrome 29
2049 c INF090 Inflammatory Bowel Disease 7 27
2050 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 27
2051 c BRT028 Brittle Cornea Syndrome 1 27
2052 c MCK017 Meckel Syndrome 4 27
2053 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 27
2054 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
2055 c MCK024 Meckel Syndrome 3 27
2056 c MNT185 Mental Retardation, Autosomal Dominant 7 27
2057 c MCK025 Meckel Syndrome 2 26