Bone Diseases Category (3027 diseases)


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

# Family MCID Name MIFTS
1 GRH001 Gorham's Disease 40
2 c HRD104 Hereditary Multiple Osteochondromas 43
3 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 27
4 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 17
5 c BNM010 Bone Marrow Failure Syndrome 1 37
6 TRC115 Tracheopathia Osteoplastica 30
7 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 22
8 ANT003 Antley-Bixler Syndrome 50
9 DNT050 Dentin Dysplasia with Sclerotic Bones 14
10 WNC001 Winchester Syndrome 44
11 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 19
12 BMR004 Beemer Lethal Malformation Syndrome 19
13 RHY001 Rhyns Syndrome 42
14 QZM001 Qazi Markouizos Syndrome 19
15 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 7
16 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 5
17 STR088 Stratton-Parker Syndrome 21
18 FLT006 Floating-Harbor Syndrome 52
19 BRS030 Breast Osteosarcoma 32
20 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 25
21 SKL033 Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age 22
22 NVC001 Navicular Bone, Accessory 17
23 P OST028 Osteochondroma 44
24 PRM206 Premature Aging Syndrome, Penttinen Type 33
25 SKL003 Skeletal Muscle Cancer 31
26 OST172 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 17
27 FRN047 Frontonasal Dysplasia with Alar Clefts 14
28 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 11
29 P SHR126 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 24
30 c SHR125 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 22
31 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
32 CHN004 Chondroblastoma 41
33 AMD002 Amed Syndrome, Digenic 36
34 c BNM032 Bone Marrow Failure Syndrome 4 24
35 PRM288 Permanent Molars, Secondary Retention of 23
36 FRB005 Freiberg's Disease 13
37 P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54
38 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 35
39 c BNM013 Bone Marrow Failure Syndrome 3 27
40 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 26
41 CL1007 Col1a1/2 Osteogenesis Imperfecta 25
42 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 24
43 c GLY108 Glycosylphosphatidylinositol Biosynthesis Defect 18 23
44 c CNT117 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b 23
45 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 21
46 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 20
47 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
48 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
49 LSS034 Lissencephaly Type Iii and Bone Dysplasia 16
50 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
51 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 13
52 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 13
53 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 12
54 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 11
55 DST098 Distal Osteosclerosis 10
56 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 10
57 OST156 Osteosclerosis with Ichthyosis and Fractures 9
58 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 8
59 PRR038 Pierre Robin Syndrome Associated with Bone Disease 5
60 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
61 RRG037 Rare Genetic Bone Development Disorder 5
62 WDM002 Wiedemann Oldigs Oppermann Syndrome 4
63 OST175 Osteonecrosis of Genetic Origin 4
64 FLM004 Filamin-Related Bone Disorder 4
65 CRN049 Craniolenticulosutural Dysplasia 43
66 c MYF007 Myofibromatosis, Infantile, 1 37
67 OST160 Osteoid Osteoma 37
68 CPL004 Caplan's Syndrome 32
69 CHN070 Cohen-Gibson Syndrome 29
70 SPR031 Sprengel Deformity 28
71 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 27
72 SHR119 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 21
73 INT362 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 21
74 P CMB108 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 20
75 TLC002 Tolchin-Le Caignec Syndrome 20
76 c CMB109 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 19
77 BZR002 Bizarre Parosteal Osteochondromatous Proliferation 15
78 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 11
79 CHR633 Choroidal Osteoma, Bilateral 10
80 ALG005 Al Gazali Sabrinathan Nair Syndrome 5
81 BTT012 Battaglia-Neri Syndrome 5
82 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 55
83 P NLD001 Nail Disease 52
84 HYP017 Hypophosphatemia 49
85 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 45
86 MCP033 Mucopolysaccharidoses 44
87 SYN031 Synovial Chondromatosis 42
88 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 40
89 RHM014 Rheumatoid Vasculitis 36
90 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 36
91 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 35
92 c CRB100 Cerebrooculofacioskeletal Syndrome 4 33
93 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 32
94 c CRB098 Cerebrooculofacioskeletal Syndrome 2 30
95 RHM013 Rheumatoid Nodulosis 29
96 P INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 26
97 SPC025 Specific Granule Deficiency 2 24
98 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 22
99 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 22
100 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 22
101 XLN249 X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome 21
102 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 18
103 c NNS071 Nonsyndromic Congenital Nail Disorder 18
104 INT346 Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies 17
105 VND003 Van Den Bosch Syndrome 16
106 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
107 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 15
108 RCH003 Richieri Costa Da Silva Syndrome 14
109 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 13
110 HKF001 Ho Kaufman Mcalister Syndrome 6
111 P SYP003 Syphilis 59
112 P INF049 Infantile Myofibromatosis 55
113 MCR165 Microphthalmia with Limb Anomalies 53
114 P CLL015 Collagen Disease 47
115 TRC097 Tracheomalacia 43
116 PGM007 Pigmented Paravenous Chorioretinal Atrophy 42
117 EST007 Estrogen Resistance 41
118 c CNG033 Congenital Syphilis 39
119 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 38
120 KSH004 Kashin-Beck Disease 37
121 c SCN006 Secondary Syphilis 36
122 c LTC001 Late Congenital Syphilis 34
123 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 34
124 ACR062 Acroosteolysis 33
125 c ERL002 Early Congenital Syphilis 32
126 SLT001 Solitary Osseous Plasmacytoma 32
127 c PRM022 Primary Syphilis 32
128 RHM008 Rheumatic Myocarditis 31
129 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
130 TRN004 Trench Fever 28
131 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 28
132 WDW001 Widow's Peak 28
133 TRS030 Tarsal Coalition 25
134 OST008 Osteosclerotic Myeloma 23
135 HYP754 Hypophosphatemic Bone Disease 22
136 AFR001 African Histoplasmosis 22
137 BSL042 Basilar Impression, Primary 21
138 c TYP042 Type Ii Collagen Disorders 21
139 c MYF010 Myofibromatosis, Infantile, 2 21
140 RBB001 Ribbing Disease 20
141 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
142 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 19
143 HDZ001 Hadziselimovic Syndrome 19
144 BNL001 Bone Leiomyosarcoma 18
145 ELS005 Elastoma 18
146 PLY028 Polycystic Bone Disease 17
147 VLF001 Velofacioskeletal Syndrome 15
148 P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 15
149 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 14
150 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 14
151 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 14
152 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 13
153 CLB032 Coloboma of Macula and Skeletal Anomalies 13
154 BLN021 Blount Disease, Adolescent 13
155 VNB002 Van Bogaert-Hozay Syndrome 13
156 PRM291 Premature Aging Syndrome, Okamoto Type 12
157 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 12
158 SKL024 Skeletal-Extraskeletal Angiomatosis 12
159 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 11
160 ANP010 Anaplastic Plasmacytoma 11
161 EXP005 Expansile Bone Lesions 11
162 ISL032 Isolated Bone Marrow Mastocytosis 11
163 THN012 Thanatophoric Dysplasia, Glasgow Variant 10
164 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 10
165 SST002 Sost-Related Sclerosing Bone Dysplasias 10
166 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 10
167 NSL024 Nasal Bones, Absence of 9
168 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 9
169 MGR005 Megarbane Syndrome 9
170 OST162 Osteomalacia, Sclerosing, with Cerebral Calcification 9
171 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 8
172 PNS013 Panostotic Fibrous Dysplasia 8
173 P BNS005 Bone Size Quantitative Trait Locus 1 8
174 PBC001 Pubic Bone Dysplasia 8
175 OST161 Osteoma of Middle Ear 8
176 SKL009 Skeletal Dysplasia, San Diego Type 7
177 CTK001 Cote Katsantoni Syndrome 7
178 BNP003 Bone Pain, Periodic 7
179 FYP001 Faye-Petersen-Ward-Carey Syndrome 7
180 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 6
181 c BNS006 Bone Size Quantitative Trait Locus 2 6
182 SLV009 Slavotinek Pike Mills Hurst Syndrome 6
183 OST155 Osteomas of Mandible 6
184 GNT125 Genetic Skeletal Muscle Disease 6
185 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
186 CRN080 Craniofacial and Skeletal Defects 5
187 PNT008 Pointer Syndrome 5
188 THD001 Theodor Hertz Goodman Syndrome 5
189 PRM165 Primary Plasmacytoma of the Bone 5
190 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
191 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4
192 CHT003 Chitty Hall Webb Syndrome 4
193 HYD022 Hydrocephalus Skeletal Anomalies 4
194 KZL005 Kozlowski Warren Fisher Syndrome 4
195 c ACQ057 Acquired Skeletal Muscle Disease 4
196 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
197 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
198 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 4
199 SND004 Sandhaus Ben-Ami Syndrome 4
200 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
201 VGN025 Vagneur Triolle Ripert Syndrome 3
202 GNT079 Genetic Bone Tumor 3
203 AGG010 Aggrecan-Related Bone Disorder 3
204 OST174 Osteochondrosis of Genetic Origin 3
205 P TYP045 Type 2 Collagen-Related Bone Disorder 3
206 c TYP046 Type 11 Collagen-Related Bone Disorder 3
207 SLF019 Sulfation-Related Bone Disorder 3
208 PRL050 Perlecan-Related Bone Disorder 3
209 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
210 BND005 Bone Dysplasia Azouz Type 2
211 BND006 Bone Dysplasia Corpus Callosum Agenesis 2
212 BND008 Bone Dysplasia Moore Type 2
213 BRT025 Brittle Bone Syndrome Lethal Type 2
214 CTR016 Cataract Skeletal Anomalies 2
215 DWR006 Dwarfism Lethal Type Advanced Bone Age 2
216 GGN003 Gigantism Advanced Bone Age Hoarse Cry 2
217 OCL029 Oculo Skeletal Renal Syndrome 2
218 CRP008 Carpo Tarsal Osteolysis Recessive 1
219 CTS007 Cutis Laxa Osteoporosis 1
220 DWR010 Dwarfism Thin Bones Multiple Fractures 1
221 PRR012 Pierre Robin Syndrome Skeletal Dysplasia Polydactyly 1
222 PST038 Positive Rheumatoid Factor Polyarthritis 1
223 BRT054 Brittle Bone Disorder 74
224 HYL004 Hyaline Fibromatosis Syndrome 67
225 P SHW006 Shwachman-Diamond Syndrome 1 65
226 MVL001 Mevalonic Aciduria 65
227 CNC002 Cinca Syndrome 65
228 P CMP005 Campomelic Dysplasia 65
229 P LYS001 Loeys-Dietz Syndrome 65
230 RCK004 Rickets 64
231 CHR619 Chromosome 2q35 Duplication Syndrome 64
232 GRG001 Greig Cephalopolysyndactyly Syndrome 64
233 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 63
234 P CRN038 Carney Complex Variant 63
235 P LPS004 Lupus Erythematosus 61
236 P DRM010 Dermatomyositis 61
237 CRT002 Cartilage-Hair Hypoplasia 60
238 P ART023 Arthropathy 59
239 P TRC086 Trichohepatoenteric Syndrome 1 59
240 ADL030 Adult-Onset Still's Disease 59
241 SPN027 Spinal Stenosis 58
242 P CLS054 Classic Ehlers-Danlos Syndrome 57
243 P EHL001 Ehlers-Danlos Syndrome 57
244 P RHN004 Rhinitis 56
245 CHR072 Chordoma 56
246 c BRC078 Brachydactyly, Type A1 56
247 MLT134 Multiple Pterygium Syndrome, Lethal Type 56
248 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 55
249 P FBR025 Fibrochondrogenesis 55
250 P AGG001 Aggressive Periodontitis 55
251 RLP001 Relapsing Polychondritis 55
252 c OST163 Osteopetrosis, Autosomal Recessive 3 54
253 c LTH007 Lethal Congenital Contracture Syndrome 1 53
254 c FNC025 Fanconi Anemia, Complementation Group J 52
255 P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
256 STV003 Stuve-Wiedemann Syndrome 52
257 SPN019 Spondylolisthesis 51
258 SPN051 Spondylitis 51
259 c OST126 Osteopetrosis, Autosomal Recessive 1 51
260 ANK001 Ankylosis 50
261 c OST120 Osteopetrosis, Autosomal Recessive 5 50
262 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49
263 ACR058 Acrofacial Dysostosis 1, Nager Type 49
264 DGN001 Degenerative Disc Disease 48
265 CNT056 Cantu Syndrome 48
266 SHR098 Short-Rib Thoracic Dysplasia 12 48
267 ASP005 Asphyxiating Thoracic Dystrophy 47
268 c PRD039 Periodontitis, Aggressive, 1 47
269 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 46
270 c CHR048 Chronic Rhinitis 46
271 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
272 TRS002 Tarsal-Carpal Coalition Syndrome 44
273 PLN005 Palindromic Rheumatism 44
274 HMR002 Hemarthrosis 43
275 c SPL024 Split-Hand/foot Malformation 3 43
276 EPC002 Epicondylitis 43
277 SPN369 Spinal Disease 43
278 c JVN003 Juvenile Xanthogranuloma 43
279 SYN005 Synostosis 43
280 P CHN044 Chondrodysplasia Punctata Syndrome 43
281 P BNG095 Benign Giant Cell Tumor 43
282 CHN010 Chondroma 43
283 P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 42
284 ISL121 Isolated Split Hand-Split Foot Malformation 42
285 ORB013 Orbital Disease 42
286 c CNG023 Congenital Fibrosarcoma 42
287 VLL003 Villonodular Synovitis 41
288 PRK003 Parkes Weber Syndrome 41
289 IDP070 Idiopathic Scoliosis 41
290 P AVS003 Avascular Necrosis 41
291 PRS037 Periostitis 40
292 OCH001 Ochronosis 40
293 ENP001 Enophthalmos 40
294 49X006 49, Xxxxy Syndrome 40
295 SPN029 Spondylolysis 39
296 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
297 P OMD003 Omodysplasia 38
298 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 38
299 SLP010 Slipped Capital Femoral Epiphysis 38
300 c INF161 Inflammatory Bowel Disease 28 38
301 P NNT042 Neonatal Lupus Erythematosus 38
302 CHN011 Chondromalacia 38
303 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
304 c FNC056 Fanconi Anemia, Complementation Group V 38
305 RHM035 Rheumatic Fever-Related Antigen 37
306 P MTP005 Metaphyseal Anadysplasia 37
307 P ACR106 Acrocephalopolysyndactyly Type Iii 36
308 HMR015 Humeroradial Synostosis 36
309 P YWS001 Yaws 36
310 P SNG014 Singleton-Merten Syndrome 36
311 SHL001 Shoulder Impingement Syndrome 35
312 HYP007 Hypermobility Syndrome 35
313 c EPP009 Epiphyseal Dysplasia, Multiple, 6 35
314 PLC002 Plica Syndrome 35
315 SYS071 Systemic Autoimmune Disease 35
316 c TRC078 Trichohepatoenteric Syndrome 2 35
317 NNT039 Neonatal Marfan Syndrome 34
318 ORB011 Orbit Rhabdomyosarcoma 34
319 PTL002 Patellofemoral Pain Syndrome 34
320 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 33
321 PRR001 Periarthritis 33
322 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 33
323 HYD003 Hydrarthrosis 33
324 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 32
325 SPN036 Spinal Chordoma 32
326 ORB008 Orbital Plasma Cell Granuloma 32
327 PLS001 Pulsating Exophthalmos 32
328 c TRN014 Transient Arthritis 32
329 c ADL019 Adult Fibrosarcoma 31
330 END034 Endocrine Exophthalmos 31
331 c PLY149 Polydactyly, Preaxial Iv 31
332 IDP041 Idiopathic Recurrent Pericarditis 31
333 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
334 ATN021 Autoinflammatory Syndrome 30
335 HLS001 Heel Spur 30
336 c INF086 Inflammatory Bowel Disease 3 30
337 INF009 Inflammatory Spondylopathy 30
338 LMB003 Lumbosacral Lipoma 30
339 LWR019 Lowry-Wood Syndrome 29
340 UND007 Undifferentiated Connective Tissue Disease 29
341 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
342 ORB010 Orbital Granuloma 29
343 TBR007 Tuberculum Sellae Meningioma 28
344 BCP001 Bicipital Tenosynovitis 28
345 ENC014 Enchondroma 28
346 MYC015 Mycobacterium Fortuitum 28
347 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 28
348 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 27
349 SPS090 Sepsis in Premature Infants 27
350 CTN019 Cutaneous Polyarteritis Nodosa 27
351 DVL021 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 26
352 BNG069 Benign Cephalic Histiocytosis 26
353 OLC001 Olecranon Bursitis 26
354 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 26
355 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 26
356 c RBN023 Robinow Syndrome, Autosomal Recessive 2 26
357 CHN009 Chondroid Chordoma 25
358 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
359 THY013 Thyrotoxic Exophthalmos 25
360 PRS016 Periosteal Chondrosarcoma 25
361 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
362 P JVN059 Juvenile Ankylosing Spondylitis 25
363 P CNG539 Congenital Disorder of Glycosylation with Defective Fucosylation 1 25
364 FBR010 Fibrogenesis Imperfecta Ossium 25
365 c MRG012 Meier-Gorlin Syndrome 5 25
366 KLB005 Kleeblattschaedel 25
367 9Q2001 9q22.3 Microdeletion 24
368 c WLL038 Weill-Marchesani Syndrome 3 24
369 ORB003 Orbital Tenonitis 24
370 c SHR116 Short-Rib Thoracic Dysplasia 20 with Polydactyly 24
371 c THR096 Three M Syndrome 3 24
372 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 24
373 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 24
374 ACR101 Acrocraniofacial Dysostosis 23
375 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
376 FMR016 Femur-Fibula-Ulna Syndrome 23
377 WLD006 Wild Type Abeta2m Amyloidosis 23
378 P ACT077 Acute Orbital Inflammation 23
379 TMP008 Tempi Syndrome 23
380 NVR001 Nievergelt Syndrome 23
381 ORB007 Orbital Cyst 23
382 IGG008 Igg4-Related Mesenteritis 23
383 KMM001 Kummell's Disease 23
384 RDL022 Radial Hemimelia 23
385 PRP090 Peripheral Dysostosis 22
386 c ACR103 Acrofrontofacionasal Dysostosis 1 22
387 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22
388 c CHR093 Chronic Orbital Inflammation 22
389 BRN123 Branchial Arch Syndrome, X-Linked 22
390 c NNT025 Neonatal Systemic Lupus Erythematosus 22
391 EXT003 Extraskeletal Mesenchymal Chondrosarcoma 21
392 PLV015 Pelvis-Shoulder Dysplasia 21
393 EF001 Eaf 21
394 BST002 Baastrup's Syndrome 21
395 c CNG541 Congenital Disorder of Glycosylation with Defective Fucosylation 2 21
396 c SYS038 Systemic Lupus Erythematosus 2 20
397 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 20
398 FBR091 Fibroblastic Rheumatism 20
399 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 19
400 SPN349 Spondylometaphyseal Dysplasia, Type A4 19
401 c ACR108 Acrocephalopolysyndactyly Type Iv 19
402 ULN014 Ulnar Hemimelia 19
403 c CRN298 Carney Complex, Type 2 19
404 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
405 c PRM150 Primary Localized Amyloidosis 18
406 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
407 CRY024 Crystal Arthropathies 18
408 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 18
409 c SYS041 Systemic Lupus Erythematosus 9 18
410 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 18
411 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
412 INT182 Intermittent Hydrarthrosis 17
413 c JVN045 Juvenile Ossifying Fibroma 17
414 MTT004 Metatarsus Adductus 17
415 OTN001 Otoonychoperoneal Syndrome 17
416 TYP044 Type 1 Interferonopathy 17
417 BRC096 Brachydactyly-Distal Symphalangism Syndrome 16
418 DYS180 Dyschondrosteosis and Nephritis 16
419 BRC114 Brachyolmia Type 1, Hobaek Type 16
420 CND008 Condensing Osteitis of the Clavicle 16
421 SCR036 Sacrum Chordoma 16
422 CTN031 Cutaneous Pseudolymphoma 16
423 DYS049 Dysplastic Cortical Hyperostosis 16
424 GNC010 Genochondromatosis 16
425 c SPN226 Spondyloarthropathy 2 16
426 APV001 Aapoaiv Amyloidosis 16
427 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
428 AST010 Astley-Kendall Syndrome 15
429 CMP016 Camptobrachydactyly 15
430 HYP497 Hyperphalangy 15
431 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 14
432 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 14
433 ADC008 Adactylia, Unilateral 14
434 c SX2003 Six2-Related Frontonasal Dysplasia 14
435 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 14
436 INT026 Intermittent Proptosis 14
437 MGP001 Megaepiphyseal Dwarfism 14
438 CNG529 Congenital Femoral Deficiency 14
439 TRM018 Traumatic Avascular Necrosis 14
440 c LTH052 Lethal Recessive Chondrodysplasia 13
441 KLL015 Kallmann Syndrome with Spastic Paraplegia 13
442 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
443 c CLD018 Cleidocranial Dysplasia, Recessive Form 13
444 ALC030 Alect2 Amyloidosis 12
445 PST104 Postaxial Oligodactyly, Tetramelic 12
446 CRN204 Craniofacial Conodysplasia 12
447 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 11
448 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 11
449 FBR007 Fibroosseous Pseudotumor of Digits 11
450 GLS016 Glossopalatine Ankylosis 11
451 CHN047 Chondroectodermal Dysplasia with Night Blindness 11
452 c INF052 Infantile Scoliosis 11
453 MDF001 Midface Dysplasia 11
454 HMN007 Hemangioma of Orbit 11
455 PRM233 Primary Cutaneous Plasmacytosis 11
456 c SCN055 Secondary Polyarteritis Nodosa 10
457 CNG279 Congenital Pseudoarthrosis of the Ulna 10
458 NNT045 Neonatal Autoimmune Hemolytic Anemia 10
459 c ANK022 Ankylosing Spondylitis 2 9
460 CNG278 Congenital Pseudoarthrosis of the Radius 9
461 APD003 Apodia 9
462 SPH002 Sphenocavernous Meningioma 8
463 c KLP015 Klippel-Feil Syndrome 4 8
464 ORB001 Orbit Alveolar Rhabdomyosarcoma 8
465 OVR125 Overlapping Connective Tissue Disease 8
466 ORB005 Orbital Periostitis 8
467 HRD208 Hereditary Angioedema with C1inh Deficiency 8
468 c TRN008 Transient Arthropathy 7
469 HYP010 Hypermobility of Coccyx 7
470 c SCN080 Secondary Avascular Necrosis 7
471 c PRD018 Periodontitis, Aggressive, 2 7
472 c VTM037 Vitamin D-Dependent Rickets Type 2b 7
473 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
474 c MLT004 Multiple Skull Base Meningioma 7
475 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 7
476 c PRM325 Primary Avascular Necrosis 7
477 c ACQ035 Acquired Angioedema Type 1 7
478 c ADL005 Adult Mesenchymal Chondrosarcoma 7
479 ISL026 Isolated Sternocostoclavicular Hyperostosis 7
480 BPR001 Bipartite Talus 7
481 NNS054 Non-Syndromic Postaxial Polydactyly 7
482 NNS059 Non-Syndromic Limb Reduction Defect 6
483 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
484 BHC001 Behcet's Syndrome Arthropathy 6
485 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 6
486 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
487 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 6
488 HST025 Histone Mutated Tumor 5
489 CHR512 Cheirospondyloenchondromatosis 5
490 c PRX100 Proximal Symphalangism 2 5
491 UNS002 Unspecified Juvenile Idiopathic Arthritis 5
492 ACR100 Acrofacial Dysostosis, Patagonia Type 5
493 CRT088 Car T Cell Therapy-Associated Cytokine Release Syndrome 5
494 GNC002 Gonococcal Bursitis 5
495 PDT005 Pediatric Mesenchymal Chondrosarcoma 5
496 SPN437 Spondylodysplastic Dysplasia 5
497 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 4
498 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 4
499 SYN118 Syndrome with Limb Reduction Defects 4
500 HMR036 Humero-Ulnar Synostosis, Unilateral 4
501 HMR037 Humero-Ulnar Synostosis, Bilateral 4
502 c PLG011 Plg-Related Hereditary Angioedema with Normal C1inh 4
503 CNS003 Constant Exophthalmos 4
504 SPC002 Specific Bursitis Often of Occupational Origin 4
505 GNC006 Gonococcal Spondylitis 4
506 UNC023 Unclassified Autoinflammatory Syndrome 4
507 SCN081 Secondary Neonatal Autoimmune Disease 4
508 TNS002 Tenosynovitis of Foot and Ankle 3
509 DYS209 Dysostosis with Predominant Vertebral and Costal Involvement 3
510 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 3
511 c RRH025 Rare Hereditary Disease with Avascular Necrosis 3
512 DYS201 Dysostosis with Limb and Face Anomalies As a Major Feature 3
513 DYS203 Dysostosis with Combined Reduction Defects of Upper and Lower Limbs 3
514 DYS206 Dysostosis with Brachydactyly with Extraskeletal Manifestations 3
515 PTL012 Patellar Dysostosis 3
516 DYS210 Dysostosis with Predominant Craniofacial Involvement 3
517 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 2
518 c ADL028 Adult Extraosseous Chondrosarcoma 2
519 MXD047 Mixed Autoinflammatory and Autoimmune Syndrome 2
520 OST141 Osteoclastic Giant Cell Tumor of Pancreas 18
521 CRD221 Cardiospondylocarpofacial Syndrome 43
522 c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 43
523 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 34
524 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 16
525 LRY012 Laryngeal Cartilage Cancer 7
526 c BNM011 Bone Marrow Failure Syndrome 2 24
527 P DNT011 Dentinogenesis Imperfecta 51
528 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 34
529 KDN010 Kidney Osteogenic Sarcoma 12
530 c RRD009 Rare Disease with Dentinogenesis Imperfecta 4
531 RNL011 Renal Osteodystrophy 48
532 GRN034 Grange Syndrome 35
533 BNG005 Bone Giant Cell Sarcoma 32
534 P HYP868 Hypophosphatemic Nephrolithiasis/osteoporosis 20
535 ARM001 Aromatase Deficiency 54
536 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 23
537 c DNT025 Dentinogenesis Imperfecta 1 33
538 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 31
539 WRN001 Werner Syndrome 69
540 ALK013 Alkaptonuria 58
541 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 48
542 P HRD021 Hereditary Sensory Neuropathy 48
543 c NRP039 Neuropathy, Hereditary Sensory, Type Id 41
544 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 39
545 P INH011 Inherited Bone Marrow Failure Syndromes 33
546 c NRP036 Neuropathy, Hereditary Sensory, Type if 33
547 SKL002 Skeletal Muscle Neoplasm 25
548 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
549 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 14
550 CSF006 Csf1r-Related Brain Malformation and Osteopetrosis 10
551 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 4
552 SRC014 Sarcoma 64
553 CNT105 Central Core Disease of Muscle 59
554 P PLG001 Pelger-Huet Anomaly 51
555 CHR635 Chromosome 5q Deletion Syndrome 50
556 P SKL032 Skeletal Muscle Disease 25
557 NRD083 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies 24
558 NRD072 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 22
559 c BNM033 Bone Marrow Failure Syndrome 5 22
560 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 18
561 c PSD024 Pseudo Pelger-Huet Anomaly 13
562 P MSC005 Muscular Dystrophy 66
563 P NTR004 Neutropenia 62
564 c SVR003 Severe Congenital Neutropenia 59
565 P MYT023 Myotonia Congenita 55
566 BTT016 Batten-Turner Congenital Myopathy 54
567 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
568 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 38
569 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 38
570 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
571 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
572 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 34
573 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
574 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
575 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
576 c INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 26
577 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
578 BNM005 Bone Marrow Necrosis 25
579 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 24
580 CRN070 Corneodermatoosseous Syndrome 21
581 c NTR045 Neutropenia, Chronic Familial 21
582 c INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 21
583 c SVR107 Severe Congenital Neutropenia 3 20
584 MCR307 Microspherophakia-Metaphyseal Dysplasia 20
585 c SVR103 Severe Congenital Neutropenia 1 20
586 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
587 c BNM034 Bone Marrow Failure Syndrome 6 18
588 c SVR110 Severe Congenital Neutropenia 4 16
589 c SVR106 Severe Congenital Neutropenia 5 14
590 c ELN001 Elane-Related Neutropenia 14
591 c ACQ053 Acquired Neutropenia 12
592 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
593 c SVR109 Severe Congenital Neutropenia 8 11
594 c SVR105 Severe Congenital Neutropenia 2 10
595 c SVR108 Severe Congenital Neutropenia 6 9
596 c SVR104 Severe Congenital Neutropenia 7 8
597 P DMN001 Diamond-Blackfan Anemia 73
598 c DMN023 Diamond-Blackfan Anemia 1 68
599 P DYS007 Dyskeratosis Congenita 66
600 P MLG056 Malignant Hyperthermia 65
601 P EMR001 Emery-Dreifuss Muscular Dystrophy 62
602 WHM001 Whim Syndrome 60
603 NNK001 Nonaka Myopathy 58
604 P HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 57
605 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
606 AGN012 Agnathia-Otocephaly Complex 52
607 P MSC003 Muscular Atrophy 52
608 P MYP087 Myopathy, Tubular Aggregate, 1 49
609 P FNC026 Fanconi Renotubular Syndrome 1 49
610 HYR002 Hoyeraal Hreidarsson Syndrome 49
611 c THR071 Thrombocytopenia 1 48
612 MYP100 Myopathy, X-Linked, with Excessive Autophagy 48
613 MYT030 Myotonia, Potassium-Aggravated 48
614 c MLG147 Malignant Hyperthermia 1 47
615 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 45
616 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 45
617 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 44
618 P RPP006 Rippling Muscle Disease 2 44
619 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 43
620 c DMN018 Diamond-Blackfan Anemia 5 42
621 c MYT029 Myotonia Congenita, Autosomal Recessive 41
622 c PRG001 Progressive Muscular Atrophy 41
623 SPR126 Superior Semicircular Canal Dehiscence 41
624 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41
625 c PRM225 Primary Thrombocytopenia 41
626 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 40
627 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 40
628 c DMN006 Diamond-Blackfan Anemia 3 39
629 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 39
630 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 39
631 c DMN021 Diamond-Blackfan Anemia 6 38
632 VRH001 Verheij Syndrome 37
633 3MC001 3mc Syndrome 2 37
634 c THR037 Thrombocytopenia 2 36
635 c DMN017 Diamond-Blackfan Anemia 10 36
636 c ACQ005 Acquired Thrombocytopenia 36
637 c THR111 Thrombocytopenia 3 35
638 c DNT047 Dentinogenesis Imperfecta Type 2 35
639 c DYS039 Dyskeratosis Congenita Autosomal Dominant 34
640 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 33
641 c FNC034 Fanconi Renotubular Syndrome 2 33
642 c DMN049 Diamond-Blackfan Anemia 20 31
643 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
644 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
645 c MYP088 Myopathy, Tubular Aggregate, 2 29
646 c THR102 Thrombocytopenia 5 29
647 c MLG151 Malignant Hyperthermia 5 29
648 c DMN022 Diamond-Blackfan Anemia 9 28
649 c THR048 Thrombocytopenia 4 28
650 c DMN005 Diamond-Blackfan Anemia 2 28
651 c DMN024 Diamond-Blackfan Anemia 7 27
652 c DMN019 Diamond-Blackfan Anemia 4 26
653 DCK002 Dock8 Immunodeficiency Syndrome 26
654 SHS001 Shashi-Pena Syndrome 26
655 c DMN020 Diamond-Blackfan Anemia 8 26
656 c THR110 Thrombocytopenia 6 26
657 c FNC066 Fanconi Renotubular Syndrome 5 25
658 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 25
659 c DMN045 Diamond-Blackfan Anemia-Like 25
660 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 24
661 c HYP845 Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive 23
662 c DMN028 Diamond-Blackfan Anemia 12 23
663 c MLG148 Malignant Hyperthermia 2 23
664 c DMN029 Diamond-Blackfan Anemia 11 23
665 c THR125 Thrombocytopenia 7 22
666 c FNC049 Fanconi Renotubular Syndrome 3 21
667 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 21
668 c MLG149 Malignant Hyperthermia 3 21
669 KNN010 Kennerknecht Syndrome 20
670 CRT006 Cartilage Cancer 20
671 SPN433 Spondyloepiphyseal Dysplasia, Kondo-Fu Type 20
672 c ANK019 Ankrd26-Related Thrombocytopenia 20
673 c RPP007 Rippling Muscle Disease 1 19
674 c MLG150 Malignant Hyperthermia 4 19
675 c DMN030 Diamond-Blackfan Anemia 13 19
676 c DMN047 Diamond-Blackfan Anemia 18 19
677 c DMN040 Diamond-Blackfan Anemia 16 19
678 c MLG152 Malignant Hyperthermia 6 18
679 FXL001 Foix-Alajouanine Syndrome 18
680 c DMN048 Diamond-Blackfan Anemia 19 18
681 c DMN039 Diamond-Blackfan Anemia 17 17
682 MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 16
683 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 15
684 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 13
685 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
686 c FNC067 Fanconi Renotubular Syndrome 4 10
687 OSS016 Ossified Ear Cartilages 10
688 RRG015 Rare Genetic Bone Disease 8
689 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
690 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
691 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 6
692 OST166 Osteoma of Cranial Vault, Familial 5
693 ALS004 Alsing Syndrome 4
694 c RRD027 Rare Disease with Malignant Hyperthermia 4
695 CNT014 Central Nervous System Osteosarcoma 4
696 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 4
697 RRB007 Rare Bone Disease Related to a Common Gene or Pathway Defect 3
698 RRG025 Rare Genetic Systemic or Rheumatologic Disease 3
699 RRS008 Rare Systemic or Rheumatological Disease of Childhood 3
700 RRP016 Rare Pediatric Rheumatologic Disease 3
701 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79
702 OST012 Osteoarthritis 77
703 MYL069 Myeloma, Multiple 76
704 c MCP050 Mucopolysaccharidosis, Type Ii 73
705 P SYS005 Systemic Scleroderma 73
706 P ART022 Arthritis 70
707 P GCH001 Gaucher's Disease 69
708 c MCP001 Mucopolysaccharidosis Iii 69
709 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
710 HRL003 Hurler Syndrome 66
711 STH001 Saethre-Chotzen Syndrome 65
712 c INF071 Inflammatory Bowel Disease 1 65
713 KWS002 Kawasaki Disease 65
714 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
715 OST017 Osteomyelitis 63
716 c MCP049 Mucopolysaccharidosis, Type Vii 62
717 P THN009 Thanatophoric Dysplasia, Type I 62
718 TKY002 Takayasu Arteritis 61
719 P SJG008 Sjogren Syndrome 60
720 OST015 Osteochondrodysplasia 60
721 P BND020 Bone Disease 60
722 c ACT027 Acute Pancreatitis 60
723 P STC001 Stickler Syndrome 60
724 P FML052 Familial Cold Autoinflammatory Syndrome 59
725 P CMR001 Camurati-Engelmann Disease 58
726 HYP042 Hypochondroplasia 58
727 c CNG415 Congenital Disorder of Glycosylation, Type Ia 58
728 P VNB005 Van Buchem Disease 58
729 MLN014 Melnick-Needles Syndrome 58
730 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58
731 c PSR021 Psoriasis 14, Pustular 57
732 MXD005 Mixed Connective Tissue Disease 57
733 P SCL018 Scoliosis 57
734 c ANM036 Anemia, Sideroblastic, 1 56
735 c JVN061 Juvenile Arthritis 56
736 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
737 NTR042 Neutrophilic Dermatosis, Acute Febrile 56
738 PLS011 Plasmacytoma 56
739 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
740 P MYS005 Myositis 55
741 P FBR017 Fibrosarcoma 55
742 END081 Endosteal Hyperostosis, Autosomal Dominant 55
743 c GM2005 Gm2-Gangliosidosis, Ab Variant 53
744 PRC002 Paracoccidioidomycosis 53
745 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
746 THR009 Thrombocytopenia-Absent Radius Syndrome 53
747 PYD001 Pyoderma Gangrenosum 53
748 c GCH016 Gaucher Disease, Type Ii 53
749 c CTS045 Cutis Laxa, Autosomal Dominant 1 52
750 OST016 Osteochondrosis 52
751 P PLY147 Polydactyly, Postaxial, Type A1 52
752 ENT004 Enthesopathy 51
753 BLD053 Blood Platelet Disease 51
754 BRS064 Bursitis 51
755 MCR088 Microscopic Polyangiitis 51
756 P BNG030 Benign Ependymoma 51
757 P FRN012 Frontometaphyseal Dysplasia 51
758 CLB002 Clubfoot 50
759 c LYS020 Loeys-Dietz Syndrome 5 50
760 c MCP046 Mucopolysaccharidosis, Type Iiid 50
761 DRG013 Drug-Induced Lupus Erythematosus 49
762 MTT002 Metatropic Dysplasia 49
763 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
764 RYS001 Reye Syndrome 49
765 P HLL001 Hallermann-Streiff Syndrome 49
766 EXS001 Exostosis 49
767 MYL003 Myeloid Sarcoma 48
768 P HRD001 Hereditary Multiple Exostoses 48
769 DFF016 Diffuse Astrocytoma 48
770 c EPP017 Epiphyseal Dysplasia, Multiple, 1 48
771 BNN003 Bone Inflammation Disease 47
772 P PLY148 Polydactyly, Preaxial Ii 47
773 SPH001 Sapho Syndrome 47
774 HYP068 Hyperostosis 47
775 HYP596 Hypophosphatasia, Childhood 47
776 P KLP003 Klippel-Feil Syndrome 47
777 BNR002 Bone Resorption Disease 47
778 DPN005 Du Pan Syndrome 47
779 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 47
780 SHR044 Short Rib-Polydactyly Syndrome 47
781 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 46
782 ESN015 Eosinophilic Fasciitis 46
783 P GLP001 Geleophysic Dysplasia 46
784 SPN020 Spondylosis 46
785 c EPP014 Epiphyseal Dysplasia, Multiple, 4 45
786 P DVL012 Developmental Dysplasia of the Hip 1 45
787 TNS014 Tenosynovitis 45
788 NSD001 Nose Disease 45
789 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 45
790 c BRC109 Brachydactyly, Type E1 45
791 c FNC045 Fanconi Anemia, Complementation Group F 44
792 RNS001 Raine Syndrome 44
793 c GLP003 Geleophysic Dysplasia 1 43
794 CHR543 Chromosome 2q37 Deletion Syndrome 43
795 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
796 DYS018 Dysostosis 43
797 GLC086 Glucocorticoid-Induced Osteoporosis 43
798 P BRT047 Brittle Cornea Syndrome 43
799 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42
800 RVL002 Ruvalcaba Syndrome 42
801 NRG003 Neurogenic Arthropathy 42
802 MSN004 Mesenchymal Cell Neoplasm 42
803 BNS001 Bone Osteosarcoma 41
804 MST019 Mastoiditis 41
805 P SYN012 Synpolydactyly 41
806 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 40
807 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40
808 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 40
809 c ADM005 Adams-Oliver Syndrome 1 40
810 CHN053 Chondromyxoid Fibroma 40
811 IVC001 Ivic Syndrome 40
812 c SYN059 Syndactyly, Type V 40
813 MJD001 Majeed Syndrome 39
814 c GLP004 Geleophysic Dysplasia 2 39
815 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 39
816 c MCP051 Mucopolysaccharidosis, Type Ix 38
817 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 38
818 OST004 Osteitis Fibrosa 38
819 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 38
820 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 38
821 ORB006 Orbital Cellulitis 38
822 TRG019 Trigonocephaly with Short Stature and Developmental Delay 38
823 SYN086 Synostoses, Tarsal, Carpal, and Digital 38
824 OST006 Osteoblastoma 37
825 P PST059 Pustular Psoriasis 37
826 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 37
827 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
828 c CRN277 Craniosynostosis 2 37
829 PYL017 Pyle Disease 37
830 c ATS494 Autosomal Recessive Distal Renal Tubular Acidosis 36
831 c SYN084 Synpolydactyly 1 36
832 SPN250 Spondyloepimetaphyseal Dysplasia 36
833 ERY017 Erythema Elevatum Diutinum 36
834 ISL087 Isolated Oxycephaly 36
835 ACR095 Acrofacial Dysostosis, Cincinnati Type 36
836 DYS045 Dysosteosclerosis 36
837 c ACR091 Aicardi-Goutieres Syndrome 4 35
838 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 35
839 P TTR031 Tetraamelia Syndrome 35
840 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 35
841 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
842 c OMD001 Omodysplasia 1 35
843 HMM005 Hemimelia 35
844 SYN106 Syndromic Craniosynostosis 35
845 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 35
846 c FRN048 Frontometaphyseal Dysplasia 2 35
847 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 34
848 ISL096 Isolated Klippel-Feil Syndrome 34
849 c BRC075 Brachydactyly, Type A1, C 34
850 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 34
851 c GLP007 Geleophysic Dysplasia 3 34
852 c RNL125 Renal Tubular Acidosis, Distal, 1 34
853 c PRT059 Parietal Foramina 1 34
854 CHL006 Childhood Oligodendroglioma 33
855 GLF001 Gliofibroma 33
856 P BND014 Bone Development Disease 33
857 P CXV002 Coxa Vara 33
858 OCL040 Oculomaxillofacial Dysostosis 33
859 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
860 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 33
861 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 33
862 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 33
863 SGR001 Sugarman Brachydactyly 33
864 c WLL040 Weill-Marchesani Syndrome 4 33
865 P KNN002 Kenny-Caffey Syndrome 33
866 CRB026 Cerebellar Astrocytoma 32
867 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 32
868 c PLY136 Polydactyly, Preaxial I 32
869 MLR023 Melorheostosis, Isolated 32
870 ADL053 Adult Astrocytic Tumour 32
871 MTC100 Metacarpal 4-5 Fusion 32
872 P HRD209 Hereditary Angioedema with Normal C1inh 32
873 c BRC047 Bruck Syndrome 1 32
874 c BRC048 Bruck Syndrome 2 32
875 GMS001 Gemistocytic Astrocytoma 32
876 ORB009 Orbit Lymphoma 32
877 PST044 Postorgasmic Illness Syndrome 31
878 c SPL070 Split-Hand/foot Malformation 2 31
879 c INF085 Inflammatory Bowel Disease 27 31
880 TBL008 Tibial Hemimelia 31
881 P EXT030 Extraosseous Chondrosarcoma 31
882 c PRT060 Parietal Foramina 2 31
883 P ADL037 Adult Xanthogranuloma 31
884 MLT177 Multisystem Proteinopathy 31
885 c ATS210 Autosomal Recessive Sideroblastic Anemia 31
886 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 30
887 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 30
888 c BRC099 Brachydactyly, Type A4 30
889 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
890 BND004 Bone Deterioration Disease 30
891 ISC005 Ischemic Bone Disease 29
892 WLD005 Wild Type Attr Amyloidosis 29
893 AML065 Amelia 29
894 c RDL040 Radioulnar Synostosis, Nonsyndromic 29
895 c SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 29
896 ISL061 Isolated Brachycephaly 29
897 BNR001 Bone Remodeling Disease 29
898 P NNT006 Neonatal Myasthenia Gravis 29
899 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 28
900 FMR002 Femoral Cancer 28
901 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 28
902 c MLG067 Malignant Giant Cell Tumor 28
903 P MYX008 Myxoid Chondrosarcoma 28
904 BJL001 Bejel 28
905 PLC004 Pilocytic Astrocytoma of Cerebellum 28
906 c INF077 Inflammatory Bowel Disease 19 28
907 PSD030 Pseudodiastrophic Dysplasia 28
908 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 28
909 RFM002 Roifman-Chitayat Syndrome 28
910 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 28
911 PTR001 Petrositis 28
912 CLV004 Calvarial Hyperostosis 28
913 PST113 Posterior Fossa Ependymoma 28
914 c INF160 Inflammatory Bowel Disease 17 28
915 c OTF003 Otofaciocervical Syndrome 2 27
916 P SKL005 Skull Base Meningioma 27
917 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 27
918 BRN142 Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis 27
919 FRN022 Frontofacionasal Dysplasia 27
920 c TTR028 Tetraamelia Syndrome 1 27
921 BNS002 Bone Structure Disease 27
922 P OVR096 Overlap Myositis 27
923 P JVN001 Juvenile Astrocytoma 27
924 c FML344 Familial Mediterranean Fever, Autosomal Dominant 27
925 CLV002 Clivus Chordoma 26
926 ISL084 Isolated Trigonocephaly 26
927 c CFF012 Coffin-Siris Syndrome 7 26
928 c ADM009 Adams-Oliver Syndrome 4 26
929 ASS004 Aase-Smith Syndrome I 26
930 c LTH047 Lethal Congenital Contracture Syndrome 3 26
931 c HRD219 Hereditary Distal Renal Tubular Acidosis 26
932 PTR002 Petroclival Meningioma 26
933 DNC009 Diencephalic Astrocytoma 25
934 INT033 Intracranial Chondrosarcoma 25
935 c INF067 Inflammatory Bowel Disease 10 25
936 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 25
937 c CFF006 Coffin-Siris Syndrome 5 25
938 c MRG015 Meier-Gorlin Syndrome 7 25
939 FBR028 Fibrosing Mediastinitis 25
940 c MRG014 Meier-Gorlin Syndrome 6 25
941 c MLG167 Malignant Inflammatory Fibrous Histiocytoma 25
942 c SYM019 Symphalangism, Proximal, 1b 25
943 CVR001 Cavernous Sinus Meningioma 25
944 SKL030 Skull Base Cancer 25
945 LNG113 Liang-Wang Syndrome 25
946 c CLC055 Cole-Carpenter Syndrome 2 25
947 DHS002 Deeah Syndrome 24
948 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 24
949 c MLT078 Multiple Synostoses Syndrome 3 24
950 c INF087 Inflammatory Bowel Disease 4 24
951 KHN002 Khan-Khan-Katsanis Syndrome 24
952 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 24
953 c SHR113 Short-Rib Thoracic Dysplasia 18 with Polydactyly 24
954 c LTH039 Lethal Congenital Contracture Syndrome 11 24
955 ACH002 Achilles Bursitis 24
956 SGL002 Sagliker Syndrome 24
957 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 23
958 c ADM008 Adams-Oliver Syndrome 3 23
959 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
960 INT058 Intraorbital Meningioma 23
961 VSS003 Vissers-Bodmer Syndrome 23
962 SHX002 Shox-Related Short Stature 23
963 c EPP026 Epiphyseal Dysplasia, Multiple, 7 23
964 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23
965 PRT005 Protoplasmic Astrocytoma 23
966 OST117 Osteomesopyknosis 23
967 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
968 c INF068 Inflammatory Bowel Disease 13 22
969 c CFF015 Coffin-Siris Syndrome 10 22
970 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
971 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
972 ALR004 Alar Cleft, Isolated 22
973 OST168 Osteosclerotic Metaphyseal Dysplasia 22
974 SPR168 Supratentorial Ependymoma 22
975 HGH021 Hughes-Stovin Syndrome 22
976 BNP002 Bone Epithelioid Hemangioma 22
977 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 22
978 CNV007 Conventional Central Osteosarcoma 22
979 INT363 Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies 21
980 DYS013 Dysbaric Osteonecrosis 21
981 LWR016 Lowry-Maclean Syndrome 21
982 ISL124 Isolated Growth Hormone Deficiency, Type V 21
983 SCH031 Scholte Syndrome 21
984 TBS009 Teebi-Shaltout Syndrome 21
985 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 21
986 c ATS493 Autosomal Dominant Distal Renal Tubular Acidosis 21
987 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
988 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 21
989 SLL002 Sella Turcica Neoplasm 21
990 ORB004 Orbital Osteomyelitis 21
991 c PLY137 Polydactyly, Preaxial Iii 21
992 MRS009 Marsili Syndrome 21
993 ACR019 Acropectoral Syndrome 21
994 SYM024 Symphalangism, Distal 21
995 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 21
996 MSM019 Mesomelic Dysplasia, Savarirayan Type 20
997 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 20
998 GRN016 Grant Syndrome 20
999 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 20
1000 CLV012 Clavicle, Pseudarthrosis of, Congenital 20
1001 TBL006 Tibial Adamantinoma 20
1002 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20
1003 c ANM034 Anemia, Sideroblastic, 4 20
1004 c INF080 Inflammatory Bowel Disease 21 20
1005 SPH003 Sphenoorbital Meningioma 20
1006 VRN007 Variant Abeta2m Amyloidosis 20
1007 SPN439 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 20
1008 9Q3002 9q33.3q34.11 Microdeletion Syndrome 19
1009 ULN005 Ulna and Fibula, Hypoplasia of 19
1010 FCC003 Faciocardiomelic Dysplasia, Lethal 19
1011 c EXS021 Exostoses, Multiple, Type Iii 19
1012 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 19
1013 IGG015 Igg4-Related Thyroid Disease 19
1014 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
1015 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 18
1016 c INF081 Inflammatory Bowel Disease 22 18
1017 KNS006 Kniest-Like Dysplasia, Lethal 18
1018 CNG284 Congenital Pseudoarthrosis of the Tibia 18
1019 HST018 Histiocytosis, Progressive Mucinous 18
1020 DYS134 Dysspondyloenchondromatosis 18
1021 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 18
1022 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 18
1023 BND017 Bone Dysplasia, Lethal, Holmgren Type 18
1024 MSM018 Mesomelic Limb Shortening and Bowing 18
1025 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
1026 c PLY178 Polydactyly, Postaxial, Type A8 18
1027 c SYS046 Systemic Lupus Erythematosus 3 17
1028 ULN007 Ulna Metaphyseal Dysplasia Syndrome 17
1029 THR033 Thoracomelic Dysplasia 17
1030 CLF047 Cleft-Limb-Heart Malformation Syndrome 17
1031 c VTM035 Vitamin D-Dependent Rickets, Type 3 17
1032 OST047 Osteopenia and Sparse Hair 17
1033 IGG009 Igg4-Related Ophthalmic Disease 17
1034 c PLY101 Polydactyly, Postaxial, Type A6 17
1035 CXR001 Coxoauricular Syndrome 17
1036 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 17
1037 PPL038 Papular Xanthoma 17
1038 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 17
1039 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 17
1040 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
1041 IGG013 Igg4-Related Pachymeningitis 17
1042 c PLY184 Polydactyly, Postaxial, Type A10 17
1043 ORM001 Oro-Mandibular-Limb Hypogenesis Syndrome 16
1044 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
1045 IGG011 Igg4-Related Kidney Disease 16
1046 CRN192 Craniorhiny 16
1047 c DVL011 Developmental Dysplasia of the Hip 2 16
1048 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 16
1049 c KLP012 Klippel-Feil Syndrome 1 16
1050 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
1051 c PLY103 Polydactyly, Postaxial, Type A5 16
1052 c VNB003 Van Buchem Disease Type 2 16
1053 RLF001 Rela Fusion-Positive Ependymoma 16
1054 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1055 JXT002 Juxtacortical Chondrosarcoma 16
1056 c LTY001 Late Yaws 16
1057 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16
1058 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 16
1059 LTR005 Lateral Displacement of Eye 16
1060 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 15
1061 BRC100 Brachydactyly, Combined B and E Types 15
1062 c PLY182 Polydactyly, Postaxial, Type A9 15
1063 ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 15
1064 LYS030 Lysosomal Storage Disease with Skeletal Involvement 15
1065 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 15
1066 TRP023 Triphalangeal Thumbs and Dislocation of Patella 15
1067 ECT086 Ectrodactyly-Polydactyly 15
1068 PLY132 Polysyndactyly, Crossed 15
1069 LRS009 Larsen-Like Syndrome, Lethal Type 15
1070 SPN120 Spondylocamptodactyly 15
1071 CNS012 Cono-Spondylar Dysplasia 15
1072 c SYS052 Systemic Lupus Erythematosus 13 15
1073 c SCN082 Secondary Vasculitis 14
1074 TTR010 Tetramelic Monodactyly 14
1075 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 14
1076 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 14
1077 ISL134 Isolated Craniosynostosis 14
1078 c CNT108 Central Polydactyly 14
1079 SCK020 Sickle Cell - Hemoglobin D Disease 14
1080 WHB001 Wahab Syndrome 14
1081 OST173 Osteoradionecrosis of the Mandible 14
1082 RDL031 Radial Aplasia, X-Linked 14
1083 HLL014 Hallux Varus and Preaxial Polysyndactyly 13
1084 c ANT021 Anterior Foramen Magnum Meningioma 13
1085 DPH002 Diaphragma Sellae Meningioma 13
1086 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
1087 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 13
1088 ACR027 Acrodysplasia Scoliosis 13
1089 CLS055 Classic Pyoderma Gangrenosum 12
1090 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 12
1091 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 12
1092 c SPN256 Spondyloarthropathy 3 12
1093 PTT005 Pituitary Stalk Meningioma 12
1094 ACH028 Acheiria 12
1095 HRR003 Herrmann Opitz Craniosynostosis 11
1096 SCN050 Secondary Non-Traumatic Avascular Necrosis 11
1097 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
1098 NNT044 Neonatal Antiphospholipid Syndrome 11
1099 c MLT172 Multiple Metaphyseal Dysplasia 11
1100 IDP040 Idiopathic Eosinophilic Myositis 11
1101 TRC112 Trochlea of the Humerus, Aplasia of 11
1102 ACR121 Acromelic Dysplasia 11
1103 OST177 Osteochondrosis of the Metatarsal Bone 11
1104 HYP852 Hypocalcemic Rickets 11
1105 DYS208 Dysostosis with Brachydactyly 10
1106 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1107 IGG010 Igg4-Related Aortitis 10
1108 TRM028 Terminal Transverse Limb Defect 10
1109 c ZYG005 Zygodactyly Type 4 10
1110 CNG277 Congenital Pseudoarthrosis of the Fibula 10
1111 SMP006 Simple Cryoglobulinemia 9
1112 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 9
1113 CHL007 Childhood Extraosseous Osteosarcoma 9
1114 CLV001 Clivus Chondroid Chordoma 9
1115 DYS128 Dysplasia of Head of Femur, Meyer Type 9
1116 MLH001 Melhem Fahl Syndrome 9
1117 c HLL012 Hallermann-Streiff-Like Syndrome 9
1118 FBL017 Fibular Dimelia-Diplopodia Syndrome 9
1119 CNG283 Congenital Pseudoarthrosis of the Femur 8
1120 GLB012 Glioblastoma Proneural Subtype 8
1121 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 8
1122 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 8
1123 DBR003 Dobrow Syndrome 8
1124 TRG018 Trigonocephaly-Broad Thumbs Syndrome 8
1125 IDP078 Idiopathic Phalangeal Acro-Osteolysis 8
1126 TBF001 Tibio-Fibular Synostosis 8
1127 c RRN022 Rare Inflammatory Bowel Disease 8
1128 PRN048 Prenatal Benign Hypophosphatasia 8
1129 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 7
1130 SNG013 Single-Organ Polyarteritis Nodosa 7
1131 LWR003 Lower Clivus Meningioma 7
1132 AML037 Amelia of Upper Limb 7
1133 c JVN030 Juvenile Overlap Myositis 7
1134 NNS055 Non-Syndromic Preaxial Polydactyly 7
1135 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1136 c RNL048 Renal Tubular Acidosis, Distal, Type 3 7
1137 c PST023 Posterior Foramen Magnum Meningioma 7
1138 UPP001 Upper Clivus Meningioma 7
1139 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1140 BNL004 Benallegue Lacete Syndrome 6
1141 CNG287 Congenital Absence of Both Forearm and Hand 6
1142 c KLP013 Klippel-Feil Syndrome 3 6
1143 OST013 Osteosarcoma Arising in Bone Paget's Disease 6
1144 HMR031 Humeral Agenesis/hypoplasia 6
1145 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1146 LNG112 Longitudinal Limb Defect 6
1147 OKH001 Okihiro Syndrome Due to a Point Mutation 6
1148 INT355 Intercalary Limb Defects 5
1149 CHL041 Childhood Intracortical Osteosarcoma 5
1150 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
1151 c ADL046 Adult Myxoid Chondrosarcoma 5
1152 RDL020 Radio-Ulnar Synostosis, Bilateral 5
1153 c PRX099 Proximal Symphalangism 1 4
1154 MTC001 Metachronous Osteosarcoma of the Bone 4
1155 MXD013 Mixed Astrocytoma-Ependymoma-Oligodendroglioma 4
1156 P PRD043 Predominantly Small-Vessel Vasculitis 4
1157 UNX005 Unexplained Periodic Fever Syndrome 4
1158 PHL011 Phalanx Chondroma 4
1159 CRP024 Corpus Callosum Oligodendroglioma 4
1160 PDT018 Pediatric Myxoid Chondrosarcoma 4
1161 c CXV001 Coxa Vara, Congenital 4
1162 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 4
1163 RDL019 Radio-Ulnar Synostosis, Unilateral 4
1164 c ANG069 Angpt1-Related Hereditary Angioedema with Normal C1inh 4
1165 ACQ052 Acquired Angioedema with C1inh Deficiency 4
1166 PRD044 Predominantly Medium-Vessel Vasculitis 4
1167 PLM197 Pleomorphic Xanthoastrocytoma Braf Mutant 3
1168 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 3
1169 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 3
1170 CNG391 Congenital Pseudoarthrosis of the Limbs 3
1171 c TRP028 Trpv4-Related Bone Disorder 3
1172 JNT005 Joint Formation Defects 3
1173 AML036 Amelia of Lower Limb 3
1174 c HYD017 Hydrocephalus Autosomal Recessive 3
1175 c PRD045 Predominantly Large-Vessel Vasculitis 3
1176 PYG009 Pyogenic Autoinflammatory Syndrome 3
1177 GRN058 Granulomatous Autoinflammatory Syndrome 3
1178 LM5001 Lama5-Related Multisystemic Syndrome 3
1179 ANT097 Antley-Bixler Syndrome Without Genital Anomaly or Disorder of Steroidogenesis 3
1180 DYS202 Dysostosis with Limb Anomaly As a Major Feature 3
1181 DYS207 Dysostosis with Brachydactyly Without Extraskeletal Manifestations 3
1182 NNS056 Non-Syndromic Complex Polydactyly 3
1183 CMP099 Complete Hemimelia 3
1184 CLD020 Cleidocranial Dysplasia and Isolated Cranial Ossification Defect 3
1185 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
1186 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
1187 MRF022 Marfan and Marfan-Related Disorders 2
1188 RSS001 Ross River Fever 29
1189 INT009 Intracranial Abscess 25
1190 ONY001 O'nyong'nyong Fever 16
1191 BRM001 Barmah Forest Virus Disease 13
1192 BNM001 Bone Marrow Cancer 45
1193 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 38
1194 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 25
1195 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 19
1196 ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54
1197 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 50
1198 SKL034 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 13
1199 CNN005 Connective Tissue Disease 66
1200 GLS018 Glass Syndrome 60
1201 P CRB101 Cerebrooculofacioskeletal Syndrome 1 53
1202 P SDR003 Sideroblastic Anemia 49
1203 c CRB099 Cerebrooculofacioskeletal Syndrome 3 33
1204 P MNS018 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 30
1205 c MNS019 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 20
1206 NRF027 Neurofacioskeletal Syndrome with or Without Renal Agenesis 15
1207 P RHB003 Rhabdomyosarcoma 66
1208 c HRD010 Hereditary Spastic Paraplegia 65
1209 c RHB024 Rhabdomyosarcoma 2 65
1210 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63
1211 CRC021 Carcinosarcoma 62
1212 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1213 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1214 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1215 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 55
1216 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1217 CRN048 Craniofacial-Deafness-Hand Syndrome 52
1218 ARM004 Aromatase Excess Syndrome 52
1219 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
1220 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1221 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 49
1222 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 49
1223 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 49
1224 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
1225 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 45
1226 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 45
1227 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1228 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 44
1229 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1230 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 44
1231 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
1232 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 43
1233 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 43
1234 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 43
1235 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
1236 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1237 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
1238 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 42
1239 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1240 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1241 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41
1242 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 41
1243 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1244 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1245 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
1246 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
1247 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
1248 ISL015 Isolated Growth Hormone Deficiency, Type Ib 39
1249 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 39
1250 SWN003 Sweeney-Cox Syndrome 39
1251 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
1252 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39
1253 CNT060 Central Serous Chorioretinopathy 38
1254 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1255 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 38
1256 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
1257 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
1258 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1259 c SPS092 Spastic Paraplegia 11 37
1260 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
1261 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1262 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 36
1263 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1264 CYT014 Cytochrome P450 Oxidoreductase Deficiency 35
1265 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
1266 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 33
1267 P SPS012 Spastic Paraplegia 3a 33
1268 c SPS036 Spastic Paraplegia 3 32
1269 c HRD220 Hereditary Spastic Paraplegia 30 32
1270 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 32
1271 c HRD186 Hereditary Spastic Paraplegia 51 31
1272 c SPS013 Spastic Paraplegia 8 31
1273 c SPS039 Spastic Paraplegia 5a 31
1274 c SPS025 Spastic Paraplegia 15 30
1275 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1276 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1277 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 30
1278 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1279 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
1280 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1281 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1282 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 28
1283 c SPS091 Spastic Paraplegia 4 28
1284 THY064 Thyroid Hormone Metabolism, Abnormal 28
1285 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1286 c SPS021 Spastic Paraplegia 10 28
1287 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 28
1288 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1289 c HRD188 Hereditary Spastic Paraplegia 72 28
1290 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1291 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1292 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1293 c SPS041 Spastic Paraplegia 6 26
1294 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1295 c SPS027 Spastic Paraplegia 17 25
1296 c HRD210 Hereditary Spastic Paraplegia 23 24
1297 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
1298 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 22
1299 c SPS038 Spastic Paraplegia 39 22
1300 c SPS042 Spastic Paraplegia 9 22
1301 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 22
1302 c SPS023 Spastic Paraplegia 13 21
1303 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21
1304 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 19
1305 c SPS022 Spastic Paraplegia 12 18
1306 c SPS028 Spastic Paraplegia 18 17
1307 c SPS034 Spastic Paraplegia 26 17
1308 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1309 c SPS032 Spastic Paraplegia 24 15
1310 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1311 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1312 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1313 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1314 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 14
1315 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1316 c SPS029 Spastic Paraplegia 19 14
1317 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
1318 c SPS035 Spastic Paraplegia 29 13
1319 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1320 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
1321 c SPS024 Spastic Paraplegia 14 12
1322 c SPS165 Spastic Paraplegia 47 12
1323 c SPS161 Spastic Paraplegia 32 12
1324 c SPS026 Spastic Paraplegia 16 11
1325 c SPS033 Spastic Paraplegia 25 11
1326 c SPS230 Spastic Paraplegia Type 49 10
1327 c SPS040 Spastic Paraplegia 5b 7
1328 c SYS001 Systemic Lupus Erythematosus 85
1329 P BDY004 Body Mass Index Quantitative Trait Locus 11 82
1330 P RHM011 Rheumatoid Arthritis 81
1331 c FNC027 Fanconi Anemia, Complementation Group a 80
1332 SCK003 Sickle Cell Anemia 74
1333 c CHR684 Chronic Kidney Disease 73
1334 P KDN018 Kidney Disease 71
1335 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1336 APR006 Apert Syndrome 69
1337 P CHR012 Chronic Granulomatous Disease 69
1338 c MCL062 Mucolipidosis Ii Alpha/beta 69
1339 P LVR013 Liver Disease 68
1340 P BLD124 Bleeding Disorder, Platelet-Type, 11 68
1341 c JVN004 Juvenile Myelomonocytic Leukemia 66
1342 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66
1343 ACH004 Achondroplasia 65
1344 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 65
1345 HTC003 Hutchinson-Gilford Progeria Syndrome 65
1346 P THR117 Three M Syndrome 1 64
1347 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
1348 c MCL013 Mucolipidosis Iv 64
1349 GT001 Gout 63
1350 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 63
1351 GLS001 Gliosarcoma 63
1352 P PLL001 Pallister-Hall Syndrome 62
1353 P HYP069 Hyperparathyroidism 62
1354 HJD001 Hajdu-Cheney Syndrome 62
1355 P OST009 Osteochondritis Dissecans 61
1356 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61
1357 c MCL046 Mucolipidosis Iii Alpha/beta 61
1358 P LRS001 Larsen Syndrome 61
1359 OST003 Osteonecrosis 60
1360 c MCP043 Mucopolysaccharidosis, Type Iiia 60
1361 P OST135 Osteogenesis Imperfecta, Type I 60
1362 RCT015 Reactive Arthritis 60
1363 P NRF002 Neurofibromatosis 60
1364 c ACT071 Acute Kidney Failure 60
1365 c OTP006 Otopalatodigital Syndrome, Type I 59
1366 P PLY017 Polyarteritis Nodosa 59
1367 P CHR285 Chronic Myelomonocytic Leukemia 59
1368 c CRP023 Carpenter Syndrome 1 59
1369 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59
1370 P PLY006 Polydactyly 58
1371 c MCP045 Mucopolysaccharidosis, Type Iiic 58
1372 P BNC003 Bone Cancer 58
1373 c OST122 Osteogenesis Imperfecta, Type Iii 57
1374 CRN005 Craniofrontonasal Syndrome 57
1375 GRN051 Granulomatous Disease, Chronic, X-Linked 57
1376 c ACT134 Acute Liver Failure 57
1377 GNT002 Giant Cell Glioblastoma 57
1378 P RHZ001 Rhizomelic Chondrodysplasia Punctata 57
1379 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56
1380 WVR001 Weaver Syndrome 56
1381 P PRM018 Primary Hypertrophic Osteoarthropathy 56
1382 HNC001 Henoch-Schoenlein Purpura 56
1383 P FNC044 Fanconi Anemia, Complementation Group C 56
1384 P RBN002 Robinow Syndrome 56
1385 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 56
1386 c OST080 Osteogenesis Imperfecta, Type Ii 55
1387 c SPN330 Spondylocostal Dysostosis 5 55
1388 PGM001 Pigmented Villonodular Synovitis 55
1389 ANT039 Antisynthetase Syndrome 55
1390 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
1391 c VTM027 Vitamin D-Dependent Rickets, Type 2a 54
1392 P SPN052 Spondyloarthropathy 54
1393 c ALM001 Al Amyloidosis 54
1394 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 54
1395 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
1396 c ACH041 Achondrogenesis, Type Ii 54
1397 VSC003 Visceral Leishmaniasis 54
1398 MLT135 Multiple Sulfatase Deficiency 53
1399 HYP074 Hypersensitivity Vasculitis 53
1400 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 53
1401 FRN039 Frank-Ter Haar Syndrome 53
1402 CFF003 Caffey Disease 53
1403 ANL018 Analbuminemia 53
1404 c JVN010 Juvenile Rheumatoid Arthritis 52
1405 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52
1406 CHN054 Chondrodysplasia, Blomstrand Type 52
1407 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 52
1408 OST011 Osteomalacia 52
1409 PLS030 Plasminogen Deficiency, Type I 52
1410 P PRT042 Parietal Foramina 51
1411 FLT011 Felty Syndrome 51
1412 c BDY020 Body Mass Index Quantitative Trait Locus 19 51
1413 c FNC024 Fanconi Anemia, Complementation Group D1 51
1414 P CHN059 Chondrocalcinosis 51
1415 c NML003 Nemaline Myopathy 2 51
1416 c HYD064 Hydrocephalus, Congenital, 1 51
1417 c BRC079 Brachydactyly, Type A2 51
1418 SCH002 Schnitzler Syndrome 51
1419 RDC002 Radiculopathy 51
1420 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 51
1421 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
1422 c RBN018 Robinow Syndrome, Autosomal Dominant 1 51
1423 BNS007 Bone Sarcoma 50
1424 LKC005 Leukocyte Adhesion Deficiency, Type Iii 50
1425 c BRC051 Brachydactyly, Type B1 50
1426 c SCN007 Secondary Hyperparathyroidism 50
1427 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 50
1428 CLC001 Calciphylaxis 50
1429 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 50
1430 c LYS018 Loeys-Dietz Syndrome 2 50
1431 YNS002 Yunis-Varon Syndrome 50
1432 c BRC081 Brachydactyly, Type C 50
1433 SPN060 Spondylocarpotarsal Synostosis Syndrome 50
1434 c NML002 Nemaline Myopathy 1 49
1435 c MCL016 Mucolipidosis Iii Gamma 49
1436 c SCK009 Seckel Syndrome 1 49
1437 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
1438 c BDY021 Body Mass Index Quantitative Trait Locus 20 49
1439 P OTS001 Otosclerosis 49
1440 ACR043 Acromicric Dysplasia 49
1441 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49
1442 P MNN019 Mannosidosis, Beta a, Lysosomal 49
1443 MLT145 Multiple Enchondromatosis, Maffucci Type 49
1444 P MCL001 Mucolipidosis 49
1445 CRY008 Cryopyrin-Associated Periodic Syndrome 48
1446 MTC018 Metachondromatosis 48
1447 c HYP243 Hyperparathyroidism 1 48
1448 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 48
1449 SND002 Sneddon Syndrome 48
1450 c ACH033 Achondrogenesis, Type Ia 48
1451 c DSB006 Desbuquois Dysplasia 1 48
1452 FBR009 Fibrous Dysplasia 48
1453 P RDL002 Radioulnar Synostosis 48
1454 P BRC015 Bruck Syndrome 48
1455 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
1456 LMT001 Limited Scleroderma 47
1457 c BDY005 Body Mass Index Quantitative Trait Locus 9 47
1458 c NML004 Nemaline Myopathy 3 47
1459 PRG071 Progressive Pseudorheumatoid Dysplasia 46
1460 c BDY019 Body Mass Index Quantitative Trait Locus 18 46
1461 c ATS082 Autosomal Dominant Robinow Syndrome 46
1462 P MSN005 Mesenchymal Chondrosarcoma 46
1463 c FNC028 Fanconi Anemia, Complementation Group L 46
1464 HRT030 Hartsfield Syndrome 46
1465 c ACR116 Aicardi-Goutieres Syndrome 1 46
1466 c SPL067 Split-Hand/foot Malformation 1 46
1467 c BDY015 Body Mass Index Quantitative Trait Locus 12 46
1468 c BDY010 Body Mass Index Quantitative Trait Locus 4 46
1469 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
1470 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
1471 DFF035 Diffuse Cutaneous Systemic Sclerosis 45
1472 P MLT072 Multiple Synostoses Syndrome 45
1473 c BDY017 Body Mass Index Quantitative Trait Locus 14 45
1474 FML091 Familial Tumoral Calcinosis 45
1475 c HRD039 Hereditary Amyloidosis 45
1476 MCR225 Macrophage Activation Syndrome 45
1477 c BDY011 Body Mass Index Quantitative Trait Locus 10 45
1478 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
1479 HMF009 Hemifacial Hyperplasia 44
1480 CPM001 Cap Myopathy 44
1481 P ANX007 Anauxetic Dysplasia 1 44
1482 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 44
1483 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1484 ANC002 Anca-Associated Vasculitis 44
1485 ACR011 Acromesomelic Dysplasia, Maroteaux Type 44
1486 c INF145 Infantile Liver Failure Syndrome 1 44
1487 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
1488 P FRN036 Frontonasal Dysplasia 1 43
1489 SCH030 Schneckenbecken Dysplasia 43
1490 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 43
1491 c BDY006 Body Mass Index Quantitative Trait Locus 8 43
1492 c BDY012 Body Mass Index Quantitative Trait Locus 7 43
1493 P CRN013 Craniodiaphyseal Dysplasia 43
1494 c FNC058 Fanconi Anemia, Complementation Group R 43
1495 c ORF033 Orofaciodigital Syndrome V 43
1496 LRW001 Leri-Weill Dyschondrosteosis 43
1497 c MCK034 Meckel Syndrome, Type 8 43
1498 ANR009 Aneurysmal Bone Cysts 43
1499 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 43
1500 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 42
1501 c FNC057 Fanconi Anemia, Complementation Group U 42
1502 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 42
1503 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 42
1504 CHN056 Chondrosarcoma, Extraskeletal Myxoid 42
1505 NVL003 Nivelon-Nivelon-Mabille Syndrome 42
1506 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 42
1507 c EPP012 Epiphyseal Dysplasia, Multiple, 2 42
1508 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42
1509 INF159 Infantile Sialic Acid Storage Disease 42
1510 c NML006 Nemaline Myopathy 5 42
1511 TNS001 Tenosynovial Giant Cell Tumor 42
1512 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 41
1513 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41
1514 SCH072 Scheuermann Disease 41
1515 KMR001 Kimura Disease 41
1516 PRS051 Parastremmatic Dwarfism 41
1517 BMR001 Boomerang Dysplasia 40
1518 HYP682 Hypertelorism, Teebi Type 40
1519 OST115 Osteonecrosis of the Jaw 40
1520 c SYN060 Syndactyly, Type Iii 40
1521 P SCL057 Scoliosis, Isolated 1 40
1522 P VTM036 Vitamin D-Dependent Rickets 40
1523 c ATL015 Atelosteogenesis, Type Ii 40
1524 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
1525 c BDY007 Body Mass Index Quantitative Trait Locus 1 40
1526 c NML010 Nemaline Myopathy 7 39
1527 c SCK010 Seckel Syndrome 4 39
1528 c BRT028 Brittle Cornea Syndrome 1 39
1529 EKN001 Eiken Syndrome 39
1530 P OTF004 Otofaciocervical Syndrome 1 39
1531 c DNT021 Dent Disease 2 39
1532 c BLD126 Bleeding Disorder, Platelet-Type, 18 39
1533 SLT009 Solitary Bone Cyst 39
1534 c EPP015 Epiphyseal Dysplasia, Multiple, 3 39
1535 OSG001 Osgood-Schlatter's Disease 38
1536 c OST133 Osteogenesis Imperfecta, Type Xi 38
1537 c NML005 Nemaline Myopathy 4 38
1538 FML307 Familial Calcium Pyrophosphate Deposition 38
1539 c BRC080 Brachydactyly, Type A1, B 38
1540 ALG027 Al-Gazali-Bakalinova Syndrome 38
1541 c INF076 Inflammatory Bowel Disease 18 38
1542 CLR005 Clear Cell Chondrosarcoma 38
1543 c LRS002 Larsen-Like Syndrome 37
1544 c SVR040 Severe Congenital Nemaline Myopathy 37
1545 c BRC062 Brachydactyly, Type D 37
1546 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 37
1547 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 37
1548 c SCK029 Seckel Syndrome 7 37
1549 c NML022 Nemaline Myopathy 10 37
1550 c OST128 Osteogenesis Imperfecta, Type Xii 36
1551 c BLD125 Bleeding Disorder, Platelet-Type, 17 36
1552 c INT274 Intermediate Congenital Nemaline Myopathy 36
1553 c CFF011 Coffin-Siris Syndrome 6 36
1554 c OST123 Osteogenesis Imperfecta, Type Xiii 36
1555 c BLD157 Bleeding Disorder, Platelet-Type, 9 36
1556 SPN154 Spondyloperipheral Dysplasia 36
1557 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 36
1558 c INF093 Inflammatory Bowel Disease 14 36
1559 c BLD120 Bleeding Disorder, Platelet-Type, 8 35
1560 DYS048 Dysplasia Epiphysealis Hemimelica 35
1561 c OST130 Osteogenesis Imperfecta, Type Ix 35
1562 KKC001 Kikuchi Disease 35
1563 FBR089 Fibrosclerosis, Multifocal 35
1564 NNL001 Non-Langerhans-Cell Histiocytosis 35
1565 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 35
1566 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35
1567 c BLD152 Bleeding Disorder, Platelet-Type, 16 35
1568 BNS004 Bone Squamous Cell Carcinoma 35
1569 SKL001 Skeletal Tuberculosis 35
1570 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1571 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 34
1572 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 34
1573 XNT009 Xanthoma Disseminatum 34
1574 PDT021 Pediatric Osteosarcoma 34
1575 c SYS061 Systemic Lupus Erythematosus 16 34
1576 c BTH006 Bethlem Myopathy 2 34
1577 c BRC060 Brachydactyly, Type E2 34
1578 AST002 Astroblastoma 34
1579 DGT005 Digital Arthropathy-Brachydactyly, Familial 34
1580 c LTH026 Lethal Congenital Contracture Syndrome 4 34
1581 c LVR030 Liver Failure, Infantile, Transient 34
1582 c OST127 Osteogenesis Imperfecta, Type X 34
1583 c SMT018 Smith-Mccort Dysplasia 2 34
1584 c BRT029 Brittle Cornea Syndrome 2 33
1585 MXD012 Mixed Oligodendroglioma-Astrocytoma 33
1586 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 33
1587 c BLD156 Bleeding Disorder, Platelet-Type, 14 33
1588 MYL002 Myelophthisic Anemia 33
1589 c NML021 Nemaline Myopathy 9 33
1590 P DSB002 Desbuquois Dysplasia 33
1591 c OST109 Osteogenesis Imperfecta, Type Xiv 33
1592 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33
1593 PLY021 Polyradiculopathy 33
1594 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 33
1595 c OST176 Osteogenesis Imperfecta, Type Xx 33
1596 OSB001 Osebold-Remondini Syndrome 33
1597 c MRG009 Meier-Gorlin Syndrome 2 33
1598 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
1599 c NML024 Nemaline Myopathy 11, Autosomal Recessive 32
1600 BRC004 Brachydactyly-Syndactyly Syndrome 32
1601 SHR108 Short Stature, Idiopathic, X-Linked 32
1602 TLN002 Telangiectatic Osteogenic Sarcoma 32
1603 c THR069 Three M Syndrome 2 32
1604 CYS041 Cystic Angiomatosis of Bone, Diffuse 32
1605 ART165 Arthrogryposis Multiplex Congenita 3, Myogenic Type 31
1606 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 31
1607 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 31
1608 KHL001 Kohler's Disease 31
1609 c CRP022 Carpenter Syndrome 2 31
1610 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 31
1611 P HRD214 Hereditary Periodic Fever Syndrome 31
1612 P EXT032 Extraosseous Osteosarcoma 31
1613 c SCN005 Secondary Hypertrophic Osteoarthropathy 31
1614 c SCK032 Seckel Syndrome 6 31
1615 FMR018 Femoral-Facial Syndrome 31
1616 AXL003 Axial Osteomalacia 31
1617 VSC050 Vascular Malformation, Primary Intraosseous 31
1618 c INF194 Infantile Liver Failure Syndrome 30
1619 CHN003 Chondroblastic Osteosarcoma 30
1620 ATN022 Autoinflammation, Antibody Deficiency, and Immune Dysregulation 30
1621 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 30
1622 c ADL054 Adult Brain Stem Glioma 30
1623 c CRN281 Craniosynostosis 7 30
1624 c OST139 Osteogenesis Imperfecta, Type Xvi 30
1625 c MRG010 Meier-Gorlin Syndrome 3 30
1626 c ERL004 Early Yaws 30
1627 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 30
1628 c NML007 Nemaline Myopathy 6 30
1629 ORB002 Orbit Embryonal Rhabdomyosarcoma 30
1630 c FNC062 Fanconi Anemia, Complementation Group S 29
1631 c INF138 Infantile Liver Failure Syndrome 2 29
1632 c FRN033 Frontonasal Dysplasia 2 29
1633 INN003 Iniencephaly 29
1634 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
1635 SPN018 Spinal Cord Astrocytoma 29
1636 HYP364 Hyperostosis Frontalis Interna 29
1637 CNG545 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 29
1638 CRN264 Craniosynostosis with Fibular Aplasia 29
1639 PRP024 Peripheral Osteosarcoma 29
1640 MCR326 Microcephaly-Micromelia Syndrome 29
1641 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29
1642 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
1643 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 28
1644 c RNL016 Renal Infectious Disease 28
1645 c MLT060 Multiple Synostoses Syndrome 2 28
1646 ACR099 Acrofacial Dysostosis, Catania Type 28
1647 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 28
1648 WLD004 Wildervanck Syndrome 28
1649 P MLT017 Multifocal Osteogenic Sarcoma 28
1650 c BRC108 Brachydactyly, Type A3 28
1651 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1652 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 28
1653 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 27
1654 c BLD154 Bleeding Disorder, Platelet-Type, 12 27
1655 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 27
1656 LPS001 Liposarcoma of Bone 27
1657 EVN003 Even-Plus Syndrome 27
1658 CHR588 Chromosome 8q22.1 Duplication Syndrome 27
1659 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 27
1660 c PSD107 Pseudo-Torch Syndrome 2 27
1661 SYS006 Say Syndrome 27
1662 STC018 Stac3 Disorder 27
1663 INF118 Inflammatory Myopathy with Abundant Macrophages 27
1664 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 27
1665 FTL029 Fetal Thalidomide Syndrome 27
1666 c BLD133 Bleeding Disorder, Platelet-Type, 20 27
1667 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1668 P FRM004 Foramen Magnum Meningioma 26
1669 SML003 Small Cell Osteogenic Sarcoma 26
1670 ISL089 Isolated Scaphocephaly 26
1671 P VTM003 Vitamin Metabolic Disorder 26
1672 c ANK021 Ankylosing Spondylitis 1 26
1673 CDG001 Cdags Syndrome 26
1674 DQR001 De Quervain Disease 26
1675 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1676 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 26
1677 DGT002 Digital Clubbing, Isolated Congenital 26
1678 THR032 Thoracolaryngopelvic Dysplasia 26
1679 P MCR327 Microcephaly, Short Stature, and Limb Abnormalities 25
1680 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 25
1681 CRN266 Craniofacial Dyssynostosis with Short Stature 25
1682 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 25
1683 LBN004 Liebenberg Syndrome 25
1684 P ACR093 Acrofrontofacionasal Dysostosis 25
1685 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
1686 c HYP720 Hyperparathyroidism 4 25
1687 ULN023 Ulnar Hypoplasia 25
1688 WSM003 Weismann-Netter Syndrome 25
1689 HGH023 High Bone Mass Osteogenesis Imperfecta 25
1690 c ACQ027 Acquired Cutis Laxa 25
1691 KYP002 Kyphomelic Dysplasia 25
1692 KNB002 Kienbock's Disease 25
1693 c INF073 Inflammatory Bowel Disease 12 25
1694 IMM146 Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 25
1695 CRN272 Craniometadiaphyseal Dysplasia 25
1696 c JVN047 Juvenile Spondyloarthropathy 25
1697 c ORF046 Orofaciodigital Syndrome Xvi 25
1698 c BRC053 Brachyolmia Type 2 25
1699 c OTS005 Otosclerosis 1 25
1700 c TTR029 Tetraamelia Syndrome 2 24
1701 P TRC034 Torch Syndrome 24
1702 c LTH032 Lethal Congenital Contracture Syndrome 7 24
1703 c FNC061 Fanconi Anemia, Complementation Group W 24
1704 P ZYG003 Zygodactyly 1 24
1705 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1706 CRN200 Craniosynostosis and Dental Anomalies 24
1707 GNR023 Generalized Eruptive Histiocytosis 24
1708 c ANK023 Ankylosing Spondylitis 3 24
1709 IMM219 Immunodeficiency 57 with Autoinflammation 24
1710 c THR023 Thrombophilia Due to Thrombomodulin Defect 24
1711 c ANX008 Anauxetic Dysplasia 2 24
1712 TTH001 Tooth Ankylosis 24
1713 c JVN019 Juvenile Temporal Arteritis 24
1714 c SCK038 Seckel Syndrome 10 24
1715 BSL048 Basilicata-Akhtar Syndrome 24
1716 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
1717 MMM002 Mammary-Digital-Nail Syndrome 23
1718 SPN228 Spondyloepiphyseal Dysplasia, Nishimura Type 23
1719 IDP069 Idiopathic Avascular Necrosis 23
1720 NNH013 Non-Histaminic Angioedema 23
1721 P RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 23
1722 c BLD127 Bleeding Disorder, Platelet-Type, 19 23
1723 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 23
1724 IGG014 Igg4-Related Sclerosing Cholangitis 23
1725 MTP004 Metaphyseal Acroscyphodysplasia 23
1726 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 23
1727 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 23
1728 MLR010 Melorheostosis with Osteopoikilosis 23
1729 c ADL068 Adult-Onset Nemaline Myopathy 23
1730 INT073 Intracortical Osteogenic Sarcoma 22
1731 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1732 GLB014 Glioblastoma Neural Subtype 22
1733 XLN086 X-Linked Ehlers-Danlos Syndrome 22
1734 c ACR105 Acrofrontofacionasal Dysostosis 2 22
1735 c TWN010 Townes-Brocks Syndrome 2 22
1736 c BLD121 Bleeding Disorder, Platelet-Type, 15 22
1737 c CFF016 Coffin-Siris Syndrome 11 22
1738 c BLD132 Bleeding Disorder, Platelet-Type, 21 22
1739 SPN425 Spondyloepimetaphyseal Dysplasia, Krakow Type 22
1740 c BLD123 Bleeding Disorder, Platelet-Type, 13 22
1741 P RGD004 Rigid Spine Muscular Dystrophy 21
1742 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 21
1743 c LTH031 Lethal Congenital Contracture Syndrome 6 21
1744 PCM001 Pacman Dysplasia 21
1745 MSL005 Mseleni Joint Disease 21
1746 c INF190 Infantile Liver Failure Syndrome 3 21
1747 CHR159 Charlie M Syndrome 21
1748 RHZ008 Rhizomelic Syndrome 21
1749 c RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 21
1750 PLY135 Polydactyly, Postaxial, with Progressive Myopia 21
1751 c JVN025 Juvenile Primary Osteoporosis 21
1752 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
1753 c SYS069 Systemic Lupus Erythematosus 6 21
1754 JNT001 Joint Laxity, Familial 21
1755 c STS009 Sotos Syndrome 3 21
1756 c CRN216 Craniosynostosis 5 21
1757 HND012 Handigodu Joint Disease 20
1758 ACR107 Acrofacial Dysostosis, Palagonia Type 20
1759 PRG077 Progressive Nodular Histiocytosis 20
1760 PTL010 Patella Aplasia-Hypoplasia 20
1761 IND009 Indeterminate Cell Histiocytosis 20
1762 MNS012 Monostotic Fibrous Dysplasia 20
1763 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1764 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 19
1765 c BRC105 Brachydactyly, Type A1, D 19
1766 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 19
1767 MZB001 Mazabraud Syndrome 19
1768 SPN353 Spondylometaphyseal Dysplasia, X-Linked 19
1769 OSL001 Oslam Syndrome 19
1770 SHR123 Short Stature and Microcephaly with Genital Anomalies 19
1771 TBT001 Tabatznik Syndrome 19
1772 PLG010 Pelger-Huet Anomaly with Mild Skeletal Anomalies 19
1773 JWC001 Jaw Cancer 19
1774 c PLY144 Polydactyly, Postaxial, Type A7 19
1775 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 18
1776 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 18
1777 BNC005 Bone Chondrosarcoma 18
1778 P BRN030 Brain Ependymoma 18
1779 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 18
1780 c CNG579 Congenital Nemaline Myopathy 18
1781 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 18
1782 SMM003 Summitt Syndrome 18
1783 CRN224 Craniofaciofrontodigital Syndrome 17
1784 c OTS007 Otosclerosis 3 17
1785 c BLD174 Bleeding Disorder, Platelet-Type, 24 17
1786 c SYS048 Systemic Lupus Erythematosus 8 17
1787 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 17
1788 c HYP311 Hyperparathyroidism 3 17
1789 HMR016 Humeroradioulnar Synostosis 17
1790 c SCL049 Scoliosis, Isolated 3 17
1791 c CHN021 Chondrocalcinosis 1 17
1792 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 17
1793 MMB012 Membranous Cranial Ossification, Delayed 17
1794 c BLD168 Bleeding Disorder, Platelet-Type, 22 17
1795 P CNG348 Congenital Sialidosis Type 2 17
1796 c SYS053 Systemic Lupus Erythematosus 5 17
1797 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 16
1798 JVN060 Juvenile Idiopathic Inflammatory Myopathy 16
1799 RDL030 Radial-Renal Syndrome 16
1800 CLD006 Cleidorhizomelic Syndrome 16
1801 BRC095 Brachydactyly, Mononen Type 16
1802 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 16
1803 DRG017 Drug-Induced Vasculitis 16
1804 c OTS006 Otosclerosis 2 16
1805 c PRT113 Parietal Foramina 3 16
1806 c OTS012 Otosclerosis 10 16
1807 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1808 CRD215 Cardioskeletal Syndrome, Kuwaiti Type 15
1809 VLJ001 Viljoen Kallis Voges Syndrome 15
1810 BNN002 Bone Angioendothelial Sarcoma 15
1811 c OTS010 Otosclerosis 7 15
1812 SPN155 Spondylospinal Thoracic Dysostosis 15
1813 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 15
1814 PRM334 Primary Bone Dysplasia with Increased Bone Density 15
1815 c SYS055 Systemic Lupus Erythematosus 12 15
1816 GGN006 Gigantiform Cementoma, Familial 15
1817 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 15
1818 PRM319 Primary Bone Dysplasia 15
1819 BWN005 Bowing of Long Bones Congenital 15
1820 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 15
1821 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1822 LNG102 Long-Thumb Brachydactyly Syndrome 14
1823 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 14
1824 c PLY163 Polydactyly, Postaxial, Type A2 14
1825 c OTS011 Otosclerosis 8 14
1826 c OTS008 Otosclerosis 4 14
1827 SND010 Sinding-Larsen-Johansson Disease 14
1828 P LTH050 Lethal Chondrodysplasia 14
1829 c BRC037 Brachydactyly Type A7 14
1830 PNN003 Panner Disease 14
1831 CLV003 Clivus Meningioma 14
1832 PHL009 Phalangeal Microgeodic Syndrome 14
1833 c RR2001 Ror2-Related Robinow Syndrome 13
1834 c PLY053 Polydactyly, Postaxial, Type A3 13
1835 IGG012 Igg4-Related Submandibular Gland Disease 13
1836 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 13
1837 FMR013 Femoral Agenesis/hypoplasia 13
1838 c CMP100 Campomelic Dysplasia and Related Disorders 13
1839 c SCL058 Scoliosis, Isolated 2 12
1840 c OTS009 Otosclerosis 5 12
1841 IDH005 Idh-Wildtype Glioblastoma 12
1842 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 12
1843 OMP011 Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 12
1844 VGT002 Vegetative Pyoderma Gangrenosum 12
1845 CRN087 Craniomicromelic Syndrome 12
1846 RRS004 Rare Systemic Disease 12
1847 c SYS067 Systemic Lupus Erythematosus 15 12
1848 UNC016 Unclassified Vasculitis 11
1849 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 11
1850 BCL019 B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome 11
1851 ISC019 Ischiovertebral Syndrome 11
1852 PGM031 Pgm3-Congenital Disorder of Glycosylation 11
1853 BRN023 Brain Stem Ependymoma 11
1854 c ZYG007 Zygodactyly Type 3 11
1855 NNT046 Neonatal Dermatomyositis 11
1856 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11
1857 c ADL034 Adult Extraosseous Osteosarcoma 10
1858 c ADL041 Adult Spinal Cord Ependymoma 10
1859 c BDY009 Body Mass Index Quantitative Trait Locus 3 10
1860 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
1861 SYN002 Synchronous Multifocal Osteogenic Sarcoma 10
1862 c SYN050 Syndactyly Type 6 10
1863 c SCL059 Scoliosis, Isolated 4 10
1864 c SCL060 Scoliosis, Isolated 5 10
1865 MLL024 Mueller-Weiss Syndrome 10
1866 NNT043 Neonatal Scleroderma 10
1867 SYM014 Symbrachydactyly of Hands and Feet 10
1868 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 9
1869 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 9
1870 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 9
1871 PST107 Pustular Pyoderma Gangrenosum 9
1872 LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 9
1873 ADL035 Adult Spinal Cord Glioblastoma Multiforme 9
1874 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
1875 c ZYG006 Zygodactyly Type 2 9
1876 c BDY008 Body Mass Index Quantitative Trait Locus 2 9
1877 c BDY013 Body Mass Index Quantitative Trait Locus 5 9
1878 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
1879 IDH004 Idh-Mutant Glioblastoma 9
1880 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 9
1881 ANG057 Angioosteohypotrophic Syndrome 9
1882 HMR042 Humero-Ulnar Synostosis 8
1883 CNG566 Congenital Vascular Bone Syndrome 8
1884 MDS009 Mediastinal Osteogenic Sarcoma 8
1885 CLC050 Calciphylaxis Cutis 8
1886 c BRC035 Brachydactyly Type A5 8
1887 c BDY014 Body Mass Index Quantitative Trait Locus 6 8
1888 GLB013 Glioblastoma Mesenchymal Subtype 8
1889 ANP033 Anaplastic Oligodendroglioma, Idh-Mutant and 1p/19q-Codeleted 8
1890 ADL021 Adult Brainstem Gliosarcoma 8
1891 CHS003 Chest Wall Bone Cancer 8
1892 IDH003 Idh-Wildtype Anaplastic Astrocytoma 7
1893 STR017 Sternum Cancer 7
1894 FML352 Familial Scaphocephaly Syndrome 7
1895 LNG027 Long Bones of Lower Limb Cancer 7
1896 c RNR002 Ren-Related Kidney Disease 7
1897 SVR046 Severe Lateral Tibial Bowing with Short Stature 7
1898 RRR002 Rare Rheumatologic Disease 7
1899 IDH002 Idh-Mutant Anaplastic Astrocytoma 7
1900 c RRH011 Rare Hyperparathyroidism 7
1901 P BNG037 Benign Angiitis of the Central Nervous System 6
1902 OTM002 Otomandibular Dysplasia 6
1903 BNM012 Bone Ameloblastoma 6
1904 PNL001 Pineal Gland Astrocytoma 6
1905 CHL023 Childhood Optic Tract Astrocytoma 6
1906 ORL028 Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy 6
1907 PST098 Postinfectious Vasculitis 6
1908 MXD011 Mixed Astrocytoma-Ependymoma 6
1909 VSC036 Visceral Calciphylaxis 6
1910 CNG610 Congenital Hypoplasia of Thumb 6
1911 PRM320 Primary Bone Dysplasia with Micromelia 5
1912 PRM333 Primary Bone Dysplasia with Decreased Bone Density 5
1913 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
1914 c RRD022 Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection 5
1915 CHL001 Childhood Parosteal Osteogenic Sarcoma 5
1916 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 5
1917 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 5
1918 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
1919 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 4
1920 NNT057 Neonatal Osteosclerotic Dysplasia 4
1921 SPN449 Spinal Ependymoma, Mycn 4
1922 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 4
1923 GLB011 Glioblastoma Classical Subtype 3
1924 DFF040 Diffuse Glioma, H3 G34 Mutant 3
1925 YP1001 Yap1-Mamld1 Fusion-Positive Supratentorial Ependymoma 3
1926 c CRN093 Craniosynostosis Autosomal Dominant 3
1927 P LGB001 Leg Absence Deformity Cataract 3
1928 OTM003 Otomandibular Dysplasia Associated with Monogenic Syndromes 3
1929 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 3
1930 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 3
1931 c OTS004 Otosclerosis, Familial 3
1932 SYN119 Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy 3
1933 ECT112 Ectrodactyly with and Without Other Manifestations 3
1934 OVR117 Overgrowth Syndrome with 2q37 Translocation 3
1935 SYN142 Syndrome with Synostosis or Other Joint Formation Defect 3
1936 P CRP001 Carpal Tunnel Syndrome 65
1937 c CRP037 Carpal Tunnel Syndrome 2 21
1938 MYL031 Myeloproliferative Neoplasm 66
1939 P LKM002 Leukemia 65
1940 c ACT073 Acute Leukemia 59
1941 c CHR418 Chronic Leukemia 48
1942 c SBC006 Subacute Leukemia 19
1943 c THR092 Thrombophilia Due to Thrombin Defect 74
1944 SCH036 Scheie Syndrome 73
1945 P GRF003 Graft-Versus-Host Disease 71
1946 SMT004 Smith-Lemli-Opitz Syndrome 69
1947 P TMP003 Temporal Arteritis 68
1948 P OCL013 Oculodentodigital Dysplasia 66
1949 P FLL037 Follicular Lymphoma 66
1950 P OLG002 Oligodendroglioma 66
1951 P CLD001 Cleidocranial Dysplasia 64
1952 MSC007 Muscle Hypertrophy 64
1953 P PRT008 Proteus Syndrome 63
1954 RBR002 Roberts-Sc Phocomelia Syndrome 63
1955 P CFF008 Coffin-Siris Syndrome 1 63
1956 NLP001 Nail-Patella Syndrome 63
1957 P HYD006 Hydrocephalus 62
1958 P STS008 Sotos Syndrome 1 62
1959 P TRC072 Treacher Collins Syndrome 1 62
1960 CSY001 C Syndrome 61
1961 P FNG006 Feingold Syndrome 1 61
1962 P HYP035 Hypophosphatasia 61
1963 PSR001 Psoriatic Arthritis 61
1964 CHR001 Churg-Strauss Syndrome 61
1965 P VSC011 Vasculitis 61
1966 SPN186 Spinal Cord Injury 60
1967 P ADM011 Adams-Oliver Syndrome 60
1968 c PRM005 Primary Hyperparathyroidism 59
1969 ANT009 Antithrombin Iii Deficiency 59
1970 PRM057 Paramyotonia Congenita of Von Eulenburg 59
1971 MYP136 Myopathy, Centronuclear, X-Linked 58
1972 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 58
1973 P SCK004 Seckel Syndrome 58
1974 c ANG068 Angioedema, Hereditary, Type I 58
1975 SPT004 Septic Arthritis 58
1976 MNK003 Muenke Syndrome 57
1977 c LYS021 Loeys-Dietz Syndrome 3 57
1978 INC002 Inclusion Body Myositis 56
1979 c RBN021 Rubinstein-Taybi Syndrome 1 56
1980 P MLT007 Multiple Epiphyseal Dysplasia 56
1981 c RGD003 Rigid Spine Muscular Dystrophy 1 56
1982 ISL003 Isolated Growth Hormone Deficiency 56
1983 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
1984 c OST164 Osteoporosis, Juvenile 55
1985 P MRG008 Meier-Gorlin Syndrome 1 55
1986 c CHR417 Chronic Graft Versus Host Disease 55
1987 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54
1988 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 54
1989 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 54
1990 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 54
1991 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 53
1992 DNR002 Duane-Radial Ray Syndrome 53
1993 WYR002 Weyers Acrofacial Dysostosis 53
1994 ERD001 Erdheim-Chester Disease 53
1995 ACR013 Acrodysostosis 53
1996 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 52
1997 OST032 Osteofibrous Dysplasia 52
1998 P BRC006 Brachydactyly 52
1999 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 51
2000 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51
2001 c ACT135 Acute Graft Versus Host Disease 51
2002 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 50
2003 P PRX021 Proximal Symphalangism 50
2004 c CNG216 Congenital Hydrocephalus 50
2005 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 50
2006 c ACH042 Achondrogenesis, Type Ib 50
2007 CLL036 Culler-Jones Syndrome 50
2008 P SMP003 Simpson-Golabi-Behmel Syndrome 49
2009 MRS004 Marshall-Smith Syndrome 49
2010 P MNT135 Mental Retardation, X-Linked, Syndromic 13 49
2011 P BRN035 Brain Stem Glioma 49
2012 c FNC046 Fanconi Anemia, Complementation Group P 49
2013 ACR002 Acrocapitofemoral Dysplasia 49
2014 P NML001 Nemaline Myopathy 49
2015 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 49
2016 CGN006 Cogan Syndrome 49
2017 c CNG194 Congenital Disorder of Glycosylation, Type Ig 49
2018 CRR002 Currarino Syndrome 49
2019 RSD004 Rosai-Dorfman Disease 49
2020 c FML253 Familial Cold Autoinflammatory Syndrome 3 48
2021 P CRY007 Cryoglobulinemia, Familial Mixed 48
2022 c MCK033 Meckel Syndrome, Type 4 48
2023 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 48
2024 MLR003 Melorheostosis 48
2025 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48
2026 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 47
2027 FBR002 Fibrosarcoma of Bone 47
2028 GRW007 Growth Hormone Deficiency 47
2029 P SMT022 Smith-Mccort Dysplasia 1 47
2030 c MCK012 Meckel Syndrome, Type 6 47
2031 DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 47
2032 CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 47
2033 PDT035 Pediatric Systemic Lupus Erythematosus 47
2034 OST062 Osteoarthritis with Mild Chondrodysplasia 46
2035 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 46
2036 P PRR002 Pure Red-Cell Aplasia 46
2037 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46
2038 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 46
2039 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 46
2040 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
2041 P HYP776 Hyperparathyroidism, Neonatal Severe 46
2042 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 46
2043 c MCK014 Meckel Syndrome, Type 5 46
2044 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 46
2045 HGH043 High Grade Glioma 46
2046 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45
2047 c FBR029 Fibrochondrogenesis 1 45
2048 PLN006 Poland Syndrome 45
2049 MXD026 Mixed Glioma 45
2050 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
2051 c EHL087 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 45
2052 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
2053 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45
2054 c THN010 Thanatophoric Dysplasia, Type Ii 44
2055 c FLL041 Follicular Lymphoma 1 44
2056 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 44
2057 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 44
2058 c EPP013 Epiphyseal Dysplasia, Multiple, 5 44
2059 IMM082 Immunodeficiency 18 44
2060 CTS005 Catastrophic Antiphospholipid Syndrome 43
2061 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 43
2062 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 43
2063 P SPL061 Split Hand-Foot Malformation 43
2064 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 43
2065 P FBR003 Fibrous Histiocytoma 43
2066 GNT031 Genitopatellar Syndrome 42
2067 c FRN049 Frontometaphyseal Dysplasia 1 42
2068 HYP648 Hypertension and Brachydactyly Syndrome 42
2069 P OSS001 Ossifying Fibroma 42
2070 PYM001 Pyomyositis 42
2071 P THP004 Thiopurines, Poor Metabolism of, 1 41
2072 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
2073 OLV002 Oliver Syndrome 41
2074 OST014 Osteopoikilosis 41
2075 END059 Endocrine-Cerebroosteodysplasia 41
2076 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 41
2077 P SYN061 Syndactyly, Type Iv 41
2078 MKL001 Mikulicz Disease 41
2079 ANP009 Anaplastic Oligodendroglioma 41
2080 c CTS031 Cutis Laxa, Autosomal Dominant 2 41
2081 ACH001 Acheiropody 40
2082 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 40
2083 PTL009 Patella, Chondromalacia of 40
2084 P LTH003 Lethal Congenital Contracture Syndrome 40
2085