Bone Diseases Category (3234 diseases)


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

# Family MCID Name MIFTS
1 GRH001 Gorham's Disease 44
2 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 44
3 CRT017 Cartilage Disease 58
4 c HRD104 Hereditary Multiple Osteochondromas 44
5 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 23
6 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 13
7 TRC115 Tracheopathia Osteoplastica 33
8 MTP003 Metaphyseal Dysplasia Without Hypotrichosis 29
9 QZM001 Qazi Markouizos Syndrome 23
10 DNT050 Dentin Dysplasia with Sclerotic Bones 15
11 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 57
12 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 55
13 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
14 c JVN025 Juvenile Primary Osteoporosis 21
15 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 45
16 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 8
17 P RHM011 Rheumatoid Arthritis 79
18 c JVN010 Juvenile Rheumatoid Arthritis 66
19 c PGT007 Paget Disease of Bone 3 41
20 c PGT009 Paget Disease of Bone 2, Early-Onset 37
21 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 34
22 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 31
23 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 30
24 SPL027 Split-Hand/foot Malformation with Long Bone Deficiency 1 24
25 OSB002 Osebold Skeletal Dysplasia/osteolysis Syndrome 5
26 FLT006 Floating-Harbor Syndrome 56
27 WNC001 Winchester Syndrome 45
28 c EXS020 Exostoses, Multiple, Type Ii 39
29 P SHR126 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 35
30 c PGT011 Paget Disease of Bone 6 27
31 FRN047 Frontonasal Dysplasia with Alar Clefts 16
32 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 38
33 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 30
34 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 27
35 SKL033 Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age 23
36 CHR663 Chromosome 17p13.3, Telomeric, Duplication Syndrome 22
37 c OST180 Osteogenesis Imperfecta, Type Xxii 22
38 BRS030 Breast Osteosarcoma 18
39 NVC001 Navicular Bone, Accessory 18
40 KDN010 Kidney Osteogenic Sarcoma 13
41 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 47
42 CHN004 Chondroblastoma 44
43 GRN034 Grange Syndrome 39
44 P OST028 Osteochondroma 38
45 SKL003 Skeletal Muscle Cancer 30
46 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 27
47 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 24
48 SYN031 Synovial Chondromatosis 23
49 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 22
50 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
51 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 17
52 FRB005 Freiberg's Disease 16
53 OST158 Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski 12
54 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
55 WDM002 Wiedemann Oldigs Oppermann Syndrome 5
56 P MNS018 Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 35
57 c SHR125 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1 25
58 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 25
59 c PLM200 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6 20
60 OST172 Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits 18
61 P LYS001 Loeys-Dietz Syndrome 65
62 c LYS019 Loeys-Dietz Syndrome 1 61
63 c LYS018 Loeys-Dietz Syndrome 2 56
64 c LYS017 Loeys-Dietz Syndrome 4 55
65 P OTT001 Otitis Externa 42
66 P GLY112 Glycosylphosphatidylinositol Biosynthesis Defect 1 40
67 c BRC047 Bruck Syndrome 1 33
68 c MLG042 Malignant Otitis Externa 28
69 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 28
70 c ERL004 Early Yaws 28
71 c GLY106 Glycosylphosphatidylinositol Biosynthesis Defect 11 28
72 P CMB108 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 25
73 c LYS031 Loeys-Dietz Syndrome 6 24
74 c GLY107 Glycosylphosphatidylinositol Biosynthesis Defect 17 24
75 c CMB109 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 23
76 c OST171 Osteopetrosis, Autosomal Dominant 3 23
77 c GLY104 Glycosylphosphatidylinositol Biosynthesis Defect 16 22
78 c LTY001 Late Yaws 20
79 c PRM151 Primary Bone Lymphoma 19
80 VLF001 Velofacioskeletal Syndrome 19
81 LSS034 Lissencephaly Type Iii and Bone Dysplasia 19
82 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
83 c GLY116 Glycosylphosphatidylinositol Biosynthesis Defect 25 18
84 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
85 AMD002 Amed Syndrome, Digenic 41
86 c FNC046 Fanconi Anemia, Complementation Group P 38
87 c BNM010 Bone Marrow Failure Syndrome 1 32
88 c BNM032 Bone Marrow Failure Syndrome 4 29
89 c PLY181 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 29
90 c CLC056 Cole-Carpenter Syndrome 1 28
91 c BNM013 Bone Marrow Failure Syndrome 3 28
92 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 26
93 c BNM011 Bone Marrow Failure Syndrome 2 25
94 OST179 Osteootohepatoenteric Syndrome 23
95 c BNM033 Bone Marrow Failure Syndrome 5 23
96 c PGT006 Paget Disease of Bone 4 18
97 CL1007 Col1a1/2 Osteogenesis Imperfecta 16
98 CRT024 Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders 16
99 LTH046 Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type 13
100 DST098 Distal Osteosclerosis 11
101 OST156 Osteosclerosis with Ichthyosis and Fractures 10
102 SPL047 Split-Hand/foot Malformation with Long Bone Deficiency 2 9
103 SKL026 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 9
104 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
105 PNT008 Pointer Syndrome 6
106 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
107 PRR038 Pierre Robin Syndrome Associated with Bone Disease 5
108 OST175 Osteonecrosis of Genetic Origin 4
109 FLM004 Filamin-Related Bone Disorder 4
110 BZZ001 Bizzare Parosteal Osteochondromatous Proliferation 4
111 P VNB005 Van Buchem Disease 57
112 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 54
113 c TRC092 Trichorhinophalangeal Syndrome, Type I 51
114 CRN049 Craniolenticulosutural Dysplasia 49
115 P CNG003 Congenital Dyserythropoietic Anemia 48
116 P CRN327 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1 43
117 c ANM080 Anemia, Congenital Dyserythropoietic, Type Iiia 42
118 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 36
119 RHM014 Rheumatoid Vasculitis 36
120 CNG502 Congenital Heart Defects and Skeletal Malformations Syndrome 32
121 CPL004 Caplan's Syndrome 31
122 c BRC048 Bruck Syndrome 2 31
123 CHN070 Cohen-Gibson Syndrome 31
124 OST160 Osteoid Osteoma 28
125 c HYP831 Hyperparathyroidism, Transient Neonatal 26
126 c CLC055 Cole-Carpenter Syndrome 2 26
127 SHR119 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis 23
128 INT362 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies 23
129 MCR307 Microspherophakia-Metaphyseal Dysplasia 22
130 c CRN328 Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2 21
131 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 20
132 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
133 c BNT008 Bent Bone Dysplasia Syndrome 2 15
134 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 15
135 TRC057 Trichoodontoonychial Dysplasia 13
136 c VNB003 Van Buchem Disease Type 2 12
137 CHR633 Choroidal Osteoma, Bilateral 11
138 P CMR001 Camurati-Engelmann Disease 61
139 BTT016 Batten-Turner Congenital Myopathy 59
140 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 47
141 49X006 49, Xxxxy Syndrome 45
142 c RBN017 Robinow Syndrome, Autosomal Dominant 2 44
143 CHN010 Chondroma 43
144 EST007 Estrogen Resistance 43
145 P SNG014 Singleton-Merten Syndrome 39
146 c SNG011 Singleton-Merten Syndrome 1 34
147 SPR031 Sprengel Deformity 33
148 c INC033 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 31
149 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 30
150 SPC025 Specific Granule Deficiency 2 26
151 HNT017 Hunter-Mcalpine Craniosynostosis Syndrome 24
152 BSL042 Basilar Impression, Primary 23
153 c CMR006 Camurati-Engelmann Disease, Type 2 23
154 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
155 ONY008 Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome 23
156 LCH010 Lichtenstein Syndrome 23
157 RHM013 Rheumatoid Nodulosis 20
158 INT346 Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies 20
159 INT580 Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects 20
160 ELS005 Elastoma 20
161 c INC035 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 19
162 NRD168 Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures 16
163 ANP010 Anaplastic Plasmacytoma 14
164 OST048 Osteopetrosis and Infantile Neuroaxonal Dystrophy 14
165 KRS001 Krauss Herman Holmes Syndrome 9
166 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 5
167 PST038 Positive Rheumatoid Factor Polyarthritis 3
168 P PLL001 Pallister-Hall Syndrome 67
169 P SYP003 Syphilis 60
170 c LTH007 Lethal Congenital Contracture Syndrome 1 54
171 P NLD001 Nail Disease 54
172 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53
173 c LYS020 Loeys-Dietz Syndrome 5 51
174 HMF009 Hemifacial Hyperplasia 51
175 P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 51
176 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 49
177 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48
178 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 45
179 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 43
180 c CNG033 Congenital Syphilis 42
181 c CRB098 Cerebrooculofacioskeletal Syndrome 2 42
182 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 40
183 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 39
184 c LTH008 Lethal Congenital Contracture Syndrome 2 39
185 c PLL017 Pallister-Hall-Like Syndrome 38
186 c CRB100 Cerebrooculofacioskeletal Syndrome 4 38
187 c SCN006 Secondary Syphilis 37
188 c LTH026 Lethal Congenital Contracture Syndrome 4 37
189 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 36
190 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 36
191 c SMT018 Smith-Mccort Dysplasia 2 35
192 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 35
193 SLT001 Solitary Osseous Plasmacytoma 33
194 ACR062 Acroosteolysis 33
195 TRN004 Trench Fever 33
196 MND031 Mandibuloacral Dysplasia Progeroid Syndrome 33
197 c PRM022 Primary Syphilis 32
198 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 32
199 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 32
200 c LTC001 Late Congenital Syphilis 32
201 WLL029 Williams-Campbell Syndrome 31
202 WDW001 Widow's Peak 31
203 P TRC031 Trichorhinophalangeal Syndrome 30
204 c PSD104 Pseudohypoparathyroidism, Type Ii 29
205 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
206 c LTH047 Lethal Congenital Contracture Syndrome 3 29
207 c ERL002 Early Congenital Syphilis 28
208 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 28
209 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 28
210 OST008 Osteosclerotic Myeloma 27
211 c CNT117 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b 26
212 c LTH029 Lethal Congenital Contracture Syndrome 9 26
213 c LTH032 Lethal Congenital Contracture Syndrome 7 26
214 c LTH039 Lethal Congenital Contracture Syndrome 11 26
215 c LTH030 Lethal Congenital Contracture Syndrome 8 25
216 c TYP042 Type Ii Collagen Disorders 25
217 TRS030 Tarsal Coalition 25
218 c SNG012 Singleton-Merten Syndrome 2 24
219 c LTH031 Lethal Congenital Contracture Syndrome 6 23
220 RBB001 Ribbing Disease 21
221 P SKL032 Skeletal Muscle Disease 21
222 BNL001 Bone Leiomyosarcoma 20
223 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 20
224 HYP754 Hypophosphatemic Bone Disease 20
225 c CHN021 Chondrocalcinosis 1 19
226 c NNS071 Nonsyndromic Congenital Nail Disorder 19
227 SKL027 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal 17
228 PLY028 Polycystic Bone Disease 17
229 c BLN020 Blount Disease, Infantile 17
230 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 16
231 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 16
232 CTN029 Cutaneous-Skeletal Hypophosphatemia Syndrome 16
233 SYM012 Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch 16
234 PRR011 Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 15
235 CLB032 Coloboma of Macula and Skeletal Anomalies 14
236 c CLC009 Clcn7-Related Osteopetrosis 14
237 MCR074 Micromelic Bone Dysplasia with Cloverleaf Skull 14
238 VNB002 Van Bogaert-Hozay Syndrome 14
239 HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 13
240 SKL024 Skeletal-Extraskeletal Angiomatosis 13
241 BLN021 Blount Disease, Adolescent 13
242 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 12
243 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 12
244 c GL3002 Gli3-Related Pallister-Hall Syndrome 11
245 EXP005 Expansile Bone Lesions 11
246 THN012 Thanatophoric Dysplasia, Glasgow Variant 11
247 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 10
248 NSL024 Nasal Bones, Absence of 10
249 CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 10
250 P TYP045 Type 2 Collagen-Related Bone Disorder 10
251 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 9
252 RRG015 Rare Genetic Bone Disease 9
253 SST002 Sost-Related Sclerosing Bone Dysplasias 9
254 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 9
255 MGR005 Megarbane Syndrome 9
256 HYP792 Hypouricemia, Hypercalcinuria, and Decreased Bone Density 9
257 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 8
258 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 8
259 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 8
260 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 8
261 PNS013 Panostotic Fibrous Dysplasia 8
262 PBC001 Pubic Bone Dysplasia 8
263 GNT125 Genetic Skeletal Muscle Disease 8
264 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 8
265 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 8
266 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 8
267 BNP003 Bone Pain, Periodic 7
268 OST155 Osteomas of Mandible 7
269 P BNS005 Bone Size Quantitative Trait Locus 1 7
270 IRD004 Iridogoniodysgenesis and Skeletal Anomalies 7
271 FYP001 Faye-Petersen-Ward-Carey Syndrome 7
272 c TRP028 Trpv4-Related Bone Disorder 7
273 CRN080 Craniofacial and Skeletal Defects 6
274 PRM165 Primary Plasmacytoma of the Bone 6
275 c BNS006 Bone Size Quantitative Trait Locus 2 6
276 HKF001 Ho Kaufman Mcalister Syndrome 5
277 CRS015 Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 5
278 CHT003 Chitty Hall Webb Syndrome 5
279 RRG025 Rare Genetic Systemic or Rheumatologic Disease 4
280 BWN008 Bowing of Long Bones, Asymmetric and Symmetric 4
281 KZL005 Kozlowski Warren Fisher Syndrome 4
282 HYD022 Hydrocephalus Skeletal Anomalies 4
283 OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4
284 MCR343 Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects 4
285 SND004 Sandhaus Ben-Ami Syndrome 4
286 SKL028 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa 4
287 RRB007 Rare Bone Disease Related to a Common Gene or Pathway Defect 3
288 RRP016 Rare Pediatric Rheumatologic Disease 3
289 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
290 PRL050 Perlecan-Related Bone Disorder 3
291 OST174 Osteochondrosis of Genetic Origin 3
292 GNT079 Genetic Bone Tumor 3
293 SLF019 Sulfation-Related Bone Disorder 3
294 AGG010 Aggrecan-Related Bone Disorder 3
295 c TYP046 Type 11 Collagen-Related Bone Disorder 3
296 RRS008 Rare Systemic or Rheumatological Disease of Childhood 3
297 BND005 Bone Dysplasia Azouz Type 2
298 BND008 Bone Dysplasia Moore Type 2
299 BND006 Bone Dysplasia Corpus Callosum Agenesis 2
300 GGN003 Gigantism Advanced Bone Age Hoarse Cry 2
301 DWR006 Dwarfism Lethal Type Advanced Bone Age 2
302 BRT025 Brittle Bone Syndrome Lethal Type 2
303 CTR016 Cataract Skeletal Anomalies 2
304 OCL029 Oculo Skeletal Renal Syndrome 2
305 CRP008 Carpo Tarsal Osteolysis Recessive 1
306 DWR010 Dwarfism Thin Bones Multiple Fractures 1
307 CTS007 Cutis Laxa Osteoporosis 1
308 c FNC027 Fanconi Anemia, Complementation Group a 80
309 PFF001 Pfeiffer Syndrome 78
310 BRT054 Brittle Bone Disorder 73
311 c GCH015 Gaucher Disease, Type I 70
312 HTC003 Hutchinson-Gilford Progeria Syndrome 69
313 P CLD001 Cleidocranial Dysplasia 67
314 P GCH001 Gaucher's Disease 67
315 c GM1007 Gm1 Gangliosidosis 66
316 c FNC043 Fanconi Anemia, Complementation Group E 66
317 P CRN015 Cornelia De Lange Syndrome 65
318 P CMP005 Campomelic Dysplasia 65
319 P BTH005 Bethlem Myopathy 1 65
320 P AMY004 Amyloidosis 64
321 P PRT008 Proteus Syndrome 64
322 KWS002 Kawasaki Disease 64
323 c ANM036 Anemia, Sideroblastic, 1 64
324 RHM001 Rheumatic Fever 63
325 P THN009 Thanatophoric Dysplasia, Type I 63
326 P OST001 Osteopetrosis 63
327 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 62
328 P ART023 Arthropathy 62
329 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 62
330 c CRN139 Cornelia De Lange Syndrome 1 62
331 P STS001 Sotos Syndrome 61
332 SPN027 Spinal Stenosis 60
333 P PLY006 Polydactyly 59
334 P STC001 Stickler Syndrome 59
335 SPT004 Septic Arthritis 58
336 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 58
337 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 58
338 c SVR003 Severe Congenital Neutropenia 58
339 c MYP072 Myopathy, Myofibrillar, 1 58
340 P MRG008 Meier-Gorlin Syndrome 1 57
341 c GM2005 Gm2-Gangliosidosis, Ab Variant 57
342 P RHN004 Rhinitis 57
343 P FNC044 Fanconi Anemia, Complementation Group C 57
344 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 56
345 c BRC078 Brachydactyly, Type A1 55
346 FRN039 Frank-Ter Haar Syndrome 55
347 c MYP078 Myopathy, Myofibrillar, 3 55
348 SRM004 Serum Amyloid a Amyloidosis 55
349 P SCL018 Scoliosis 54
350 SPN019 Spondylolisthesis 54
351 c BRC079 Brachydactyly, Type A2 54
352 c EPP014 Epiphyseal Dysplasia, Multiple, 4 54
353 PST049 Postaxial Acrofacial Dysostosis 54
354 c CHR048 Chronic Rhinitis 53
355 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 53
356 P SPN052 Spondyloarthropathy 53
357 SPN051 Spondylitis 52
358 c GCH016 Gaucher Disease, Type Ii 52
359 ANK001 Ankylosis 51
360 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
361 c OST126 Osteopetrosis, Autosomal Recessive 1 51
362 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 51
363 ASP005 Asphyxiating Thoracic Dystrophy 51
364 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 50
365 c MYP079 Myopathy, Myofibrillar, 5 50
366 P BRC006 Brachydactyly 50
367 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 49
368 P BRT028 Brittle Cornea Syndrome 1 49
369 c BRC109 Brachydactyly, Type E1 49
370 P MYF003 Myofibrillar Myopathy 49
371 P CLL015 Collagen Disease 49
372 c OST129 Osteopetrosis, Autosomal Recessive 2 49
373 DGN001 Degenerative Disc Disease 49
374 CRR002 Currarino Syndrome 48
375 c JVN061 Juvenile Arthritis 48
376 P GNG009 Gangliosidosis 48
377 c CRN134 Cornelia De Lange Syndrome 2 48
378 CLB002 Clubfoot 48
379 EPC002 Epicondylitis 48
380 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 48
381 c OST120 Osteopetrosis, Autosomal Recessive 5 47
382 VXS001 Vexas Syndrome 47
383 c MYP081 Myopathy, Myofibrillar, 6 47
384 c CNG185 Congenital Disorder of Glycosylation, Type Iig 47
385 P KLP003 Klippel-Feil Syndrome 47
386 P GLP001 Geleophysic Dysplasia 47
387 c GCH013 Gaucher Disease, Type Iiic 47
388 c MYP082 Myopathy, Myofibrillar, 2 46
389 c BRC081 Brachydactyly, Type C 46
390 c MYP080 Myopathy, Myofibrillar, 4 46
391 c MRG010 Meier-Gorlin Syndrome 3 46
392 P SYN060 Syndactyly, Type Iii 45
393 SPN369 Spinal Disease 45
394 c DSB006 Desbuquois Dysplasia 1 45
395 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 45
396 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
397 c OST134 Osteopetrosis, Autosomal Recessive 6 45
398 ANG062 Angioosteohypertrophic Syndrome 45
399 c GM2006 Gm2 Gangliosidosis 45
400 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 45
401 P SPN016 Spondylocostal Dysostosis 45
402 HMR002 Hemarthrosis 45
403 c SYN061 Syndactyly, Type Iv 45
404 c GLP003 Geleophysic Dysplasia 1 44
405 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 44
406 DFF035 Diffuse Cutaneous Systemic Sclerosis 44
407 CHN011 Chondromalacia 44
408 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 44
409 c ATL011 Atelosteogenesis, Type I 43
410 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
411 c ATL015 Atelosteogenesis, Type Ii 43
412 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 43
413 SYN005 Synostosis 43
414 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 42
415 c HRD039 Hereditary Amyloidosis 42
416 c GLP004 Geleophysic Dysplasia 2 42
417 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 42
418 c FNC052 Fanconi Anemia, Complementation Group T 42
419 c FNC058 Fanconi Anemia, Complementation Group R 42
420 c SYN059 Syndactyly, Type V 42
421 SPN029 Spondylolysis 41
422 MCP033 Mucopolysaccharidoses 41
423 c OST137 Osteopetrosis, Autosomal Recessive 4 41
424 c MRG015 Meier-Gorlin Syndrome 7 41
425 c OST110 Osteogenesis Imperfecta, Type Xv 41
426 c CRN209 Cornelia De Lange Syndrome 5 41
427 c MRG012 Meier-Gorlin Syndrome 5 41
428 c FNC057 Fanconi Anemia, Complementation Group U 41
429 IDP070 Idiopathic Scoliosis 41
430 c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
431 P RDL002 Radioulnar Synostosis 40
432 c BRT029 Brittle Cornea Syndrome 2 40
433 P SHR085 Short-Rib Thoracic Dysplasia 14 with Polydactyly 39
434 PRS037 Periostitis 39
435 ENP001 Enophthalmos 39
436 P MTP001 Metaphyseal Dysplasia 38
437 ISL121 Isolated Split Hand-Split Foot Malformation 38
438 c BRC062 Brachydactyly, Type D 38
439 P ACR106 Acrocephalopolysyndactyly Type Iii 38
440 c GLP007 Geleophysic Dysplasia 3 38
441 HYP007 Hypermobility Syndrome 38
442 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 38
443 c XLN227 X-Linked Chondrodysplasia Punctata 1 38
444 c BTH006 Bethlem Myopathy 2 37
445 c THN010 Thanatophoric Dysplasia, Type Ii 37
446 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
447 VLL003 Villonodular Synovitis 37
448 c MYP119 Myopathy, Myofibrillar, 7 36
449 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 36
450 P CXV002 Coxa Vara 36
451 c BRC075 Brachydactyly, Type A1, C 36
452 c FNC056 Fanconi Anemia, Complementation Group V 35
453 P ATL001 Atelosteogenesis 35
454 P SKL005 Skull Base Meningioma 35
455 c OST106 Osteopetrosis, Autosomal Recessive 8 35
456 c BRC060 Brachydactyly, Type E2 35
457 DRG013 Drug-Induced Lupus Erythematosus 35
458 P DSB002 Desbuquois Dysplasia 35
459 c MRG009 Meier-Gorlin Syndrome 2 35
460 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 35
461 TBL006 Tibial Adamantinoma 35
462 c ATL012 Atelosteogenesis, Type Iii 34
463 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 34
464 c MYP118 Myopathy, Myofibrillar, 8 34
465 c ANX008 Anauxetic Dysplasia 2 34
466 SHL001 Shoulder Impingement Syndrome 34
467 c BRC099 Brachydactyly, Type A4 34
468 PRR001 Periarthritis 34
469 END034 Endocrine Exophthalmos 33
470 CRR017 Curry-Jones Syndrome 33
471 ATN022 Autoinflammation, Antibody Deficiency, and Immune Dysregulation 33
472 c TRN014 Transient Arthritis 33
473 RFM002 Roifman-Chitayat Syndrome 33
474 JBR008 Juberg-Hayward Syndrome 33
475 ORB008 Orbital Plasma Cell Granuloma 32
476 PLS001 Pulsating Exophthalmos 32
477 c BRC105 Brachydactyly, Type A1, D 32
478 FMR018 Femoral-Facial Syndrome 32
479 SSC001 Susac Syndrome 32
480 c STS008 Sotos Syndrome 1 32
481 c DSB005 Desbuquois Dysplasia 2 32
482 ANG049 Angioedema Induced by Ace Inhibitors 32
483 HYD003 Hydrarthrosis 31
484 IMM237 Immunodeficiency 78 with Autoimmunity and Developmental Delay 31
485 HLS001 Heel Spur 31
486 c ATS210 Autosomal Recessive Sideroblastic Anemia 31
487 BLP051 Blepharophimosis-Impaired Intellectual Development Syndrome 31
488 c FNC062 Fanconi Anemia, Complementation Group S 31
489 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 31
490 LNG113 Liang-Wang Syndrome 31
491 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
492 P HRD214 Hereditary Periodic Fever Syndrome 31
493 c PRT063 Proteus-Like Syndrome 31
494 c MRG016 Meier-Gorlin Syndrome 8 30
495 c ANK021 Ankylosing Spondylitis 1 30
496 TTR013 Tetrasomy X 30
497 MSM004 Mesomelia-Synostoses Syndrome 30
498 ISL096 Isolated Klippel-Feil Syndrome 30
499 c BRC108 Brachydactyly, Type A3 30
500 c SPL070 Split-Hand/foot Malformation 2 30
501 BRR001 Barre-Lieou Syndrome 29
502 CHR268 Chromosome 8q Duplication 29
503 c MRG011 Meier-Gorlin Syndrome 4 29
504 CHR588 Chromosome 8q22.1 Duplication Syndrome 29
505 ACR025 Acrocephalopolydactylous Dysplasia 29
506 WLD006 Wild Type Abeta2m Amyloidosis 29
507 TBR007 Tuberculum Sellae Meningioma 29
508 DQR001 De Quervain Disease 28
509 TRG019 Trigonocephaly with Short Stature and Developmental Delay 28
510 MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 28
511 P NNT006 Neonatal Myasthenia Gravis 28
512 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 28
513 CTN019 Cutaneous Polyarteritis Nodosa 28
514 THY013 Thyrotoxic Exophthalmos 28
515 P JVN059 Juvenile Ankylosing Spondylitis 27
516 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
517 P CNG539 Congenital Disorder of Glycosylation with Defective Fucosylation 1 27
518 THR032 Thoracolaryngopelvic Dysplasia 27
519 PLC002 Plica Syndrome 27
520 P ACT077 Acute Orbital Inflammation 27
521 c MRG014 Meier-Gorlin Syndrome 6 27
522 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 27
523 OLC001 Olecranon Bursitis 26
524 c SPL025 Split-Hand/foot Malformation 5 26
525 c SYN088 Synpolydactyly 2 26
526 SCR025 Scarf Syndrome 26
527 NVR001 Nievergelt Syndrome 26
528 c RDL040 Radioulnar Synostosis, Nonsyndromic 26
529 ANN010 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 26
530 c FNC061 Fanconi Anemia, Complementation Group W 26
531 PRS016 Periosteal Chondrosarcoma 26
532 NNS133 Non-Syndromic Metopic Craniosynostosis 26
533 c THR096 Three M Syndrome 3 25
534 FBR010 Fibrogenesis Imperfecta Ossium 25
535 UND007 Undifferentiated Connective Tissue Disease 25
536 c STS007 Sotos Syndrome 2 25
537 INT182 Intermittent Hydrarthrosis 25
538 EF001 Eaf 25
539 c CNG541 Congenital Disorder of Glycosylation with Defective Fucosylation 2 25
540 INT033 Intracranial Chondrosarcoma 25
541 c CNG514 Congenital Radioulnar Synostosis 25
542 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 25
543 MMM002 Mammary-Digital-Nail Syndrome 25
544 DYS213 Dysostosis Multiplex, Ain-Naz Type 25
545 SPS090 Sepsis in Premature Infants 24
546 SYM024 Symphalangism, Distal 24
547 c CHR093 Chronic Orbital Inflammation 24
548 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
549 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 24
550 GNR023 Generalized Eruptive Histiocytosis 24
551 CHN053 Chondromyxoid Fibroma 24
552 9Q2001 9q22.3 Microdeletion 24
553 EXT003 Extraskeletal Mesenchymal Chondrosarcoma 23
554 c STS009 Sotos Syndrome 3 23
555 PLV015 Pelvis-Shoulder Dysplasia 23
556 JNT004 Joint Laxity, Short Stature, and Myopia 23
557 CLV002 Clivus Chordoma 23
558 c MTP014 Metaphyseal Anadysplasia 2 23
559 c ANK023 Ankylosing Spondylitis 3 23
560 c MYF011 Myofibrillar Myopathy 10 23
561 c STC012 Stickler Syndrome, Type Iv 23
562 c MYF012 Myofibrillar Myopathy 11 23
563 DDF002 Dedifferentiated Chondrosarcoma 22
564 SYS071 Systemic Autoimmune Disease 22
565 c PLY137 Polydactyly, Preaxial Iii 22
566 c STC020 Stickler Syndrome, Type Vi 22
567 HMM005 Hemimelia 22
568 INT026 Intermittent Proptosis 21
569 c ANM034 Anemia, Sideroblastic, 4 21
570 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 21
571 c TRN062 Transient Neonatal Myasthenia Gravis 21
572 FCC003 Faciocardiomelic Dysplasia, Lethal 21
573 c BRC080 Brachydactyly, Type A1, B 21
574 c VTM037 Vitamin D-Dependent Rickets Type 2b 21
575 BNG069 Benign Cephalic Histiocytosis 21
576 AFR001 African Histoplasmosis 21
577 ORB010 Orbital Granuloma 21
578 SPN439 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type 21
579 c ACR108 Acrocephalopolysyndactyly Type Iv 21
580 DYS134 Dysspondyloenchondromatosis 20
581 INF009 Inflammatory Spondylopathy 20
582 P HRD209 Hereditary Angioedema with Normal C1inh 20
583 HMR016 Humeroradioulnar Synostosis 20
584 c STC011 Stickler Syndrome, Type V 20
585 BCP001 Bicipital Tenosynovitis 20
586 MNS012 Monostotic Fibrous Dysplasia 20
587 KMM001 Kummell's Disease 20
588 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 20
589 c BRC053 Brachyolmia Type 2 20
590 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
591 SYN106 Syndromic Craniosynostosis 19
592 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 19
593 IGG010 Igg4-Related Aortitis 19
594 P SPN300 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 19
595 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 19
596 c ANM079 Anemia, Sideroblastic, 5 19
597 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 19
598 THR033 Thoracomelic Dysplasia 19
599 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 19
600 CRT088 Car T Cell Therapy-Associated Cytokine Release Syndrome 19
601 CRN192 Craniorhiny 19
602 PLY132 Polysyndactyly, Crossed 19
603 HRD208 Hereditary Angioedema with C1inh Deficiency 18
604 DYS180 Dyschondrosteosis and Nephritis 18
605 DYS049 Dysplastic Cortical Hyperostosis 18
606 c CLD019 Cleidocranial Dysplasia Spectrum Disorder 18
607 SPN120 Spondylocamptodactyly 18
608 TTR010 Tetramelic Monodactyly 18
609 DYS128 Dysplasia of Head of Femur, Meyer Type 18
610 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18
611 IDP041 Idiopathic Recurrent Pericarditis 18
612 PRM233 Primary Cutaneous Plasmacytosis 18
613 49X005 49, Xxxyy Syndrome 18
614 c SX2003 Six2-Related Frontonasal Dysplasia 17
615 RDL031 Radial Aplasia, X-Linked 17
616 BRC114 Brachyolmia Type 1, Hobaek Type 17
617 c BRC037 Brachydactyly Type A7 17
618 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 17
619 c KLP012 Klippel-Feil Syndrome 1 17
620 SCR036 Sacrum Chordoma 16
621 SPN414 Spondylometaphyseal Dysplasia, East African Type 16
622 c JVN036 Juvenile Sialidosis Type 2 16
623 c CMP100 Campomelic Dysplasia and Related Disorders 16
624 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
625 FBR091 Fibroblastic Rheumatism 16
626 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 16
627 ACH028 Acheiria 16
628 c SPN226 Spondyloarthropathy 2 15
629 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 15
630 ALC030 Alect2 Amyloidosis 15
631 MLT181 Multisystem Inflammatory Syndrome in Children and Adults 15
632 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 15
633 ISC019 Ischiovertebral Syndrome 15
634 c ATS448 Autosomal Recessive Brachyolmia 14
635 SPN406 Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 14
636 TRM018 Traumatic Avascular Necrosis 14
637 HRR003 Herrmann Opitz Craniosynostosis 14
638 c CLD018 Cleidocranial Dysplasia, Recessive Form 14
639 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 14
640 CRN087 Craniomicromelic Syndrome 14
641 FBR007 Fibroosseous Pseudotumor of Digits 14
642 c JVN047 Juvenile Spondyloarthropathy 14
643 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 13
644 KLL015 Kallmann Syndrome with Spastic Paraplegia 13
645 DPH002 Diaphragma Sellae Meningioma 13
646 c SYN050 Syndactyly Type 6 13
647 SPN412 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 13
648 c ZYG006 Zygodactyly Type 2 13
649 HYP879 Hypoplastic Femurs and Pelvis 13
650 MLH001 Melhem Fahl Syndrome 12
651 PTT005 Pituitary Stalk Meningioma 12
652 HYP010 Hypermobility of Coccyx 12
653 c SCN055 Secondary Polyarteritis Nodosa 12
654 HMN007 Hemangioma of Orbit 12
655 MDF001 Midface Dysplasia 12
656 AML036 Amelia of Lower Limb 12
657 CNG279 Congenital Pseudoarthrosis of the Ulna 12
658 c MLT172 Multiple Metaphyseal Dysplasia 12
659 c INF052 Infantile Scoliosis 12
660 CNG277 Congenital Pseudoarthrosis of the Fibula 11
661 ACR121 Acromelic Dysplasia 11
662 CNG278 Congenital Pseudoarthrosis of the Radius 11
663 c SPN256 Spondyloarthropathy 3 11
664 NNT045 Neonatal Autoimmune Hemolytic Anemia 11
665 c ANK022 Ankylosing Spondylitis 2 11
666 ORB005 Orbital Periostitis 10
667 TRG018 Trigonocephaly-Broad Thumbs Syndrome 10
668 c BRC035 Brachydactyly Type A5 10
669 SPN390 Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 10
670 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 10
671 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 9
672 c JVN030 Juvenile Overlap Myositis 9
673 OTM002 Otomandibular Dysplasia 9
674 XLN252 X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection 9
675 MRF023 Marfan Syndrome and Marfan-Related Disorders 9
676 NNS146 Non-Syndromic Unicoronal Craniosynostosis 9
677 CNG287 Congenital Absence of Both Forearm and Hand 9
678 c PSD023 Pseudo-Gaucher Disease 9
679 INF120 Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis 9
680 BNL004 Benallegue Lacete Syndrome 9
681 JNT005 Joint Formation Defects 9
682 OVR125 Overlapping Connective Tissue Disease 9
683 CNG290 Congenital Absence of Both Lower Leg and Foot 8
684 c TRN008 Transient Arthropathy 8
685 c PRM325 Primary Avascular Necrosis 8
686 DYS208 Dysostosis with Brachydactyly 7
687 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
688 c MLT004 Multiple Skull Base Meningioma 7
689 LNG112 Longitudinal Limb Defect 7
690 BHC001 Behcet's Syndrome Arthropathy 7
691 CHL166 Childhood Mesenchymal Chondrosarcoma 6
692 SPN437 Spondylodysplastic Dysplasia 6
693 INT355 Intercalary Limb Defects 6
694 c PRX100 Proximal Symphalangism 2 6
695 SYN118 Syndrome with Limb Reduction Defects 6
696 ACR100 Acrofacial Dysostosis, Patagonia Type 6
697 RDL020 Radio-Ulnar Synostosis, Bilateral 5
698 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
699 c ADL046 Adult Myxoid Chondrosarcoma 5
700 GNC002 Gonococcal Bursitis 5
701 UNX003 Unexplained Long-Lasting Fever/inflammatory Syndrome 5
702 c ATS407 Autosomal Dominant Sideroblastic Anemia 4 5
703 c CXV001 Coxa Vara, Congenital 5
704 NNS143 Non-Syndromic Non-Specific Multisutural Craniosynostosis 5
705 NNS142 Non-Syndromic Multisutural Craniosynostosis 5
706 HMR037 Humero-Ulnar Synostosis, Bilateral 5
707 NNS139 Non-Syndromic Bicoronal and Metopic Craniosynostosis 5
708 NNS137 Non-Syndromic Pansynostosis 5
709 NNS138 Non-Syndromic Metopic and Sagittal Craniosynostosis 5
710 NNS145 Non-Syndromic Unisquamosal Craniosynostosis 5
711 SPC002 Specific Bursitis Often of Occupational Origin 4
712 GNC006 Gonococcal Spondylitis 4
713 CNS003 Constant Exophthalmos 4
714 DYS210 Dysostosis with Predominant Craniofacial Involvement 4
715 PYG009 Pyogenic Autoinflammatory Syndrome 4
716 DYS207 Dysostosis with Brachydactyly Without Extraskeletal Manifestations 3
717 SYN142 Syndrome with Synostosis or Other Joint Formation Defect 3
718 DYS203 Dysostosis with Combined Reduction Defects of Upper and Lower Limbs 3
719 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
720 CMP099 Complete Hemimelia 3
721 DYS201 Dysostosis with Limb and Face Anomalies As a Major Feature 3
722 OST141 Osteoclastic Giant Cell Tumor of Pancreas 20
723 LRY012 Laryngeal Cartilage Cancer 8
724 c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 42
725 c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 25
726 SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 26
727 P DNT011 Dentinogenesis Imperfecta 55
728 RNL011 Renal Osteodystrophy 50
729 c RRD009 Rare Disease with Dentinogenesis Imperfecta 5
730 BNG005 Bone Giant Cell Sarcoma 24
731 ALK013 Alkaptonuria 61
732 c DNT025 Dentinogenesis Imperfecta 1 43
733 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 30
734 P HYP868 Hypophosphatemic Nephrolithiasis/osteoporosis 25
735 HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 13
736 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 55
737 P HRD021 Hereditary Sensory Neuropathy 53
738 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 49
739 c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 45
740 ARM001 Aromatase Deficiency 44
741 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 43
742 c NRP039 Neuropathy, Hereditary Sensory, Type Id 42
743 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 33
744 c NRP036 Neuropathy, Hereditary Sensory, Type if 30
745 P INH011 Inherited Bone Marrow Failure Syndromes 28
746 SKL002 Skeletal Muscle Neoplasm 28
747 c AVS005 Avascular Necrosis of Femoral Head, Primary, 2 19
748 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
749 SKL034 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 14
750 CSF006 Csf1r-Related Brain Malformation and Osteopetrosis 10
751 c RRB006 Rare Bone Development Disorder 8
752 RRG037 Rare Genetic Bone Development Disorder 7
753 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
754 P APL006 Aplasia Cutis Congenita 49
755 c APL023 Aplasia Cutis Congenita, Nonsyndromic 37
756 PRM288 Permanent Molars, Secondary Retention of 27
757 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 14
758 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
759 P MSC005 Muscular Dystrophy 65
760 P THR014 Thrombocytopenia 63
761 P WHM002 Whim Syndrome 1 60
762 c HYP847 Hyper Ige Recurrent Infection Syndrome 1 55
763 c FNC024 Fanconi Anemia, Complementation Group D1 55
764 c HYP828 Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant 53
765 c THR071 Thrombocytopenia 1 53
766 P PLG001 Pelger-Huet Anomaly 52
767 ISL003 Isolated Growth Hormone Deficiency 50
768 c ACQ005 Acquired Thrombocytopenia 42
769 c PRM225 Primary Thrombocytopenia 40
770 c THR037 Thrombocytopenia 2 38
771 c MSC050 Muscular Dystrophy, Congenital, 1b 38
772 c MYF007 Myofibromatosis, Infantile, 1 36
773 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 33
774 c THR102 Thrombocytopenia 5 31
775 c THR048 Thrombocytopenia 4 30
776 c THR111 Thrombocytopenia 3 30
777 c BFD005 Bifid Nose, Autosomal Recessive 29
778 c THR110 Thrombocytopenia 6 28
779 c THR125 Thrombocytopenia 7 27
780 c HYP884 Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive 26
781 c HYP833 Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive 26
782 NRD072 Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities 25
783 CRD256 Cardiac Arrhythmia Syndrome, with or Without Skeletal Muscle Weakness 24
784 c HYP871 Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive 23
785 P HYP885 Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant 23
786 c PRG106 Progressive Muscular Dystrophy 22
787 c BNM034 Bone Marrow Failure Syndrome 6 21
788 HDZ001 Hadziselimovic Syndrome 20
789 c ANK019 Ankrd26-Related Thrombocytopenia 20
790 OST181 Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay 19
791 BNM035 Bone Marrow Failure and Diabetes Mellitus Syndrome 18
792 c HYP863 Hyper Ige Recurrent Infection Syndrome 4 17
793 P SCK020 Sickle Cell - Hemoglobin D Disease 17
794 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 16
795 NRD173 Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities 13
796 c SCK051 Sickle Cell-Hemoglobin E Disease Syndrome 12
797 ISL032 Isolated Bone Marrow Mastocytosis 12
798 c PSD024 Pseudo Pelger-Huet Anomaly 11
799 P BFD004 Bifid Nose, Autosomal Dominant 11
800 RZC001 Ruzicka Goerz Anton Syndrome 7
801 c HYP861 Hyper Ige Recurrent Infection Syndrome 2 6
802 c HYP862 Hyper Ige Recurrent Infection Syndrome 3 6
803 ACT273 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or 6
804 P DMN001 Diamond-Blackfan Anemia 75
805 c DMN023 Diamond-Blackfan Anemia 1 66
806 NNK001 Nonaka Myopathy 60
807 c CRB101 Cerebrooculofacioskeletal Syndrome 1 57
808 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 56
809 SRC014 Sarcoma 56
810 P MRN003 Marinesco-Sjogren Syndrome 53
811 P MSC003 Muscular Atrophy 53
812 TRC097 Tracheomalacia 53
813 MYP100 Myopathy, X-Linked, with Excessive Autophagy 51
814 3MC001 3mc Syndrome 2 51
815 P RPP006 Rippling Muscle Disease 2 49
816 MYT030 Myotonia, Potassium-Aggravated 47
817 c MYT029 Myotonia Congenita, Autosomal Recessive 47
818 c DMN021 Diamond-Blackfan Anemia 6 46
819 c DMN029 Diamond-Blackfan Anemia 11 46
820 c PRG001 Progressive Muscular Atrophy 46
821 SPR126 Superior Semicircular Canal Dehiscence 45
822 c HYP829 Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive 45
823 PGM007 Pigmented Paravenous Chorioretinal Atrophy 45
824 CNT060 Central Serous Chorioretinopathy 44
825 DCK002 Dock8 Immunodeficiency Syndrome 43
826 MRS009 Marsili Syndrome 42
827 P CRB050 Cerebrooculofacioskeletal Syndrome 41
828 c DMN017 Diamond-Blackfan Anemia 10 41
829 c CHN022 Chondrocalcinosis 2 40
830 c DMN020 Diamond-Blackfan Anemia 8 38
831 c DMN024 Diamond-Blackfan Anemia 7 38
832 DCH002 Duchenne and Becker Muscular Dystrophy 37
833 RHM008 Rheumatic Myocarditis 35
834 c DMN018 Diamond-Blackfan Anemia 5 34
835 c DMN049 Diamond-Blackfan Anemia 20 32
836 ACT176 Acute Panmyelosis with Myelofibrosis 31
837 c DMN022 Diamond-Blackfan Anemia 9 29
838 IMM263 Immunodeficiency 98 with Autoinflammation, X-Linked 29
839 c DMN019 Diamond-Blackfan Anemia 4 28
840 FXL001 Foix-Alajouanine Syndrome 27
841 c DMN045 Diamond-Blackfan Anemia-Like 25
842 HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 24
843 c DMN028 Diamond-Blackfan Anemia 12 24
844 c MYF010 Myofibromatosis, Infantile, 2 23
845 c DMN030 Diamond-Blackfan Anemia 13 23
846 DRM042 Dermatoosteolysis, Kirghizian Type 22
847 c DMN040 Diamond-Blackfan Anemia 16 21
848 c DMN039 Diamond-Blackfan Anemia 17 20
849 c DMN047 Diamond-Blackfan Anemia 18 20
850 CRT006 Cartilage Cancer 20
851 c RPP007 Rippling Muscle Disease 1 19
852 c DMN048 Diamond-Blackfan Anemia 19 19
853 c DMN050 Diamond-Blackfan Anemia 21 16
854 c CHN023 Chondrocalcinosis Due to Apatite Crystal Deposition 16
855 BNM005 Bone Marrow Necrosis 15
856 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 14
857 PRM291 Premature Aging Syndrome, Okamoto Type 13
858 OSS016 Ossified Ear Cartilages 10
859 OST157 Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 10
860 OST161 Osteoma of Middle Ear 8
861 CTK001 Cote Katsantoni Syndrome 7
862 c ACQ057 Acquired Skeletal Muscle Disease 7
863 c MRN006 Marinesco-Sjogren-Like Syndrome 6
864 OST166 Osteoma of Cranial Vault, Familial 5
865 ALS004 Alsing Syndrome 4
866 CNT014 Central Nervous System Osteosarcoma 4
867 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 4
868 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 4
869 c SYS001 Systemic Lupus Erythematosus 86
870 P MRF001 Marfan Syndrome 77
871 P NNN008 Noonan Syndrome 1 77
872 OST012 Osteoarthritis 76
873 MCC012 Mccune-Albright Syndrome 71
874 P DYS007 Dyskeratosis Congenita 69
875 P SHW006 Shwachman-Diamond Syndrome 1 68
876 P ART022 Arthritis 68
877 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 68
878 P CHR012 Chronic Granulomatous Disease 67
879 c HRD002 Hereditary Angioedema 66
880 CRZ001 Crouzon Syndrome 66
881 c MCP049 Mucopolysaccharidosis, Type Vii 66
882 c ORF037 Orofaciodigital Syndrome I 65
883 P ZLL001 Zellweger Syndrome 64
884 HJD001 Hajdu-Cheney Syndrome 64
885 P SJG008 Sjogren Syndrome 64
886 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 64
887 P OST135 Osteogenesis Imperfecta, Type I 64
888 GT001 Gout 63
889 CHR619 Chromosome 2q35 Duplication Syndrome 63
890 END081 Endosteal Hyperostosis, Autosomal Dominant 63
891 c VTM027 Vitamin D-Dependent Rickets, Type 2a 63
892 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
893 c PSR021 Psoriasis 14, Pustular 62
894 ANT009 Antithrombin Iii Deficiency 62
895 HYP042 Hypochondroplasia 61
896 OST009 Osteochondritis Dissecans 60
897 P CRN323 Cranioectodermal Dysplasia 60
898 P 46X052 46,xx Sex Reversal 1 60
899 INT146 Intervertebral Disc Disease 60
900 CRT002 Cartilage-Hair Hypoplasia 59
901 P LPS004 Lupus Erythematosus 58
902 c FNC042 Fanconi Anemia, Complementation Group D2 58
903 c GCH017 Gaucher Disease, Type Iii 58
904 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 58
905 RDC002 Radiculopathy 57
906 P BND020 Bone Disease 57
907 c OST163 Osteopetrosis, Autosomal Recessive 3 57
908 PYC001 Pycnodysostosis 56
909 PLS030 Plasminogen Deficiency, Type I 56
910 P MLT007 Multiple Epiphyseal Dysplasia 56
911 P ANT006 Antiphospholipid Syndrome 55
912 ACR058 Acrofacial Dysostosis 1, Nager Type 55
913 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 55
914 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 55
915 P CRB154 Cerebrocostomandibular Syndrome 54
916 TNS001 Tenosynovial Giant Cell Tumor 54
917 c OST132 Osteogenesis Imperfecta, Type Vi 54
918 c ACR128 Acromesomelic Dysplasia 1 54
919 P ANG015 Angioedema 54
920 MLT135 Multiple Sulfatase Deficiency 54
921 c FNC029 Fanconi Anemia, Complementation Group I 54
922 c FNC045 Fanconi Anemia, Complementation Group F 54
923 c FNC025 Fanconi Anemia, Complementation Group J 53
924 ACR013 Acrodysostosis 53
925 MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 53
926 c ACH042 Achondrogenesis, Type Ib 53
927 VSC003 Visceral Leishmaniasis 53
928 P CHN059 Chondrocalcinosis 53
929 c SCL045 Sclerosteosis 1 53
930 c BRC051 Brachydactyly, Type B1 53
931 c NNN010 Noonan Syndrome 3 52
932 VTM033 Vitamin K Deficiency Bleeding 52
933 PRX005 Peroxisomal Biogenesis Disorder 52
934 P CRY007 Cryoglobulinemia, Familial Mixed 52
935 MLT134 Multiple Pterygium Syndrome, Lethal Type 52
936 OHD005 Ohdo Syndrome, Sbbys Variant 51
937 MLT145 Multiple Enchondromatosis, Maffucci Type 51
938 P FNC026 Fanconi Renotubular Syndrome 1 51
939 c 46X082 46,xy Sex Reversal 51
940 P MST002 Mast-Cell Leukemia 51
941 c FNC032 Fanconi Anemia, Complementation Group B 51
942 BRS064 Bursitis 51
943 ACR043 Acromicric Dysplasia 50
944 EXS001 Exostosis 50
945 CLC001 Calciphylaxis 50
946 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
947 c CRN108 Cranioectodermal Dysplasia 1 50
948 P FBR025 Fibrochondrogenesis 50
949 c 46X049 46,xy Sex Reversal 2 50
950 c FNC028 Fanconi Anemia, Complementation Group L 50
951 c FNC048 Fanconi Anemia, Complementation Group O 49
952 SPN020 Spondylosis 49
953 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
954 BNN003 Bone Inflammation Disease 49
955 c OST119 Osteogenesis Imperfecta, Type Vii 49
956 ORB013 Orbital Disease 49
957 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 49
958 ENT004 Enthesopathy 49
959 P ACT010 Acth-Secreting Pituitary Adenoma 48
960 CHN054 Chondrodysplasia, Blomstrand Type 48
961 PRG071 Progressive Pseudorheumatoid Dysplasia 48
962 SCH030 Schneckenbecken Dysplasia 48
963 FBR009 Fibrous Dysplasia 48
964 RTR011 Retroperitoneal Fibrosis 48
965 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
966 c FNC023 Fanconi Anemia, Complementation Group N 48
967 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 47
968 c ZLL011 Zellweger Spectrum Disorder 47
969 c EPP013 Epiphyseal Dysplasia, Multiple, 5 47
970 c FNC030 Fanconi Anemia, Complementation Group G 47
971 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 47
972 c FBR029 Fibrochondrogenesis 1 47
973 HYP068 Hyperostosis 46
974 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 46
975 P MSN005 Mesenchymal Chondrosarcoma 46
976 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 46
977 c OST133 Osteogenesis Imperfecta, Type Xi 46
978 BNR002 Bone Resorption Disease 46
979 SHR044 Short Rib-Polydactyly Syndrome 46
980 c SCL042 Sclerosteosis 2 46
981 c CRN111 Cranioectodermal Dysplasia 4 46
982 c PTT057 Pituitary Adenoma 4, Acth-Secreting 46
983 c 46X051 46,xy Sex Reversal 1 45
984 SLW006 Saul-Wilson Syndrome 45
985 c OST118 Osteogenesis Imperfecta, Type Viii 45
986 c 46X030 46,xy Sex Reversal 9 45
987 c FNC047 Fanconi Anemia, Complementation Group Q 45
988 c SVR107 Severe Congenital Neutropenia 3 44
989 P PST059 Pustular Psoriasis 44
990 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 44
991 c NNN009 Noonan Syndrome 2 44
992 c BRC052 Brachydactyly, Type B2 44
993 EKN001 Eiken Syndrome 44
994 P BRC015 Bruck Syndrome 44
995 CHN056 Chondrosarcoma, Extraskeletal Myxoid 44
996 MYH012 Myhre Syndrome 43
997 IMM082 Immunodeficiency 18 43
998 GLC086 Glucocorticoid-Induced Osteoporosis 43
999 MSN004 Mesenchymal Cell Neoplasm 43
1000 DYS018 Dysostosis 43
1001 CRN325 Craniotubular Dysplasia, Ikegawa Type 43
1002 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 43
1003 c NNN012 Noonan Syndrome 5 43
1004 c ATS082 Autosomal Dominant Robinow Syndrome 43
1005 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 43
1006 ORB006 Orbital Cellulitis 42
1007 c 46X079 46,xy Sex Reversal 11 42
1008 P MLT072 Multiple Synostoses Syndrome 42
1009 c EPP012 Epiphyseal Dysplasia, Multiple, 2 42
1010 NRG003 Neurogenic Arthropathy 41
1011 P VTM036 Vitamin D-Dependent Rickets 41
1012 c NNN021 Noonan Syndrome 8 41
1013 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 41
1014 P BNG095 Benign Giant Cell Tumor 41
1015 c NNN011 Noonan Syndrome 4 41
1016 c SPL034 Split-Hand/foot Malformation 4 40
1017 c 46X055 46,xy Sex Reversal 3 40
1018 c OST130 Osteogenesis Imperfecta, Type Ix 40
1019 P LTH003 Lethal Congenital Contracture Syndrome 40
1020 c FBR030 Fibrochondrogenesis 2 40
1021 SYN086 Synostoses, Tarsal, Carpal, and Digital 40
1022 c SYS043 Systemic Lupus Erythematosus 1 40
1023 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 40
1024 ERY017 Erythema Elevatum Diutinum 40
1025 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 40
1026 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 40
1027 c NNN020 Noonan Syndrome 7 39
1028 c SYS061 Systemic Lupus Erythematosus 16 39
1029 NNL001 Non-Langerhans-Cell Histiocytosis 39
1030 c 46X017 46,xy Sex Reversal 6 39
1031 FCL047 Facial Clefting, Oblique, 1 39
1032 P OMD003 Omodysplasia 39
1033 c CRN109 Cranioectodermal Dysplasia 2 39
1034 OST004 Osteitis Fibrosa 39
1035 P ACR016 Acromesomelic Dysplasia 39
1036 OCH001 Ochronosis 39
1037 P DVL012 Developmental Dysplasia of the Hip 1 39
1038 MST019 Mastoiditis 38
1039 P SYN012 Synpolydactyly 38
1040 c OST128 Osteogenesis Imperfecta, Type Xii 38
1041 c OST178 Osteogenesis Imperfecta, Type Xxi 38
1042 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 38
1043 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 38
1044 c EPP009 Epiphyseal Dysplasia, Multiple, 6 38
1045 c OST109 Osteogenesis Imperfecta, Type Xiv 38
1046 P SPL061 Split Hand-Foot Malformation 38
1047 c SPL033 Split-Hand/foot Malformation 6 38
1048 MRF021 Marfanoid-Progeroid-Lipodystrophy Syndrome 38
1049 P AVS003 Avascular Necrosis 38
1050 P HRT030 Hartsfield Syndrome 37
1051 c PRT059 Parietal Foramina 1 37
1052 BRC004 Brachydactyly-Syndactyly Syndrome 37
1053 c NNN025 Noonan Syndrome 10 37
1054 c NNN013 Noonan Syndrome 6 37
1055 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 37
1056 c FML270 Familial Cold Autoinflammatory Syndrome 4 37
1057 c OST170 Osteogenesis Imperfecta, Type Xix 37
1058 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 37
1059 PDT035 Pediatric Systemic Lupus Erythematosus 36
1060 c OST127 Osteogenesis Imperfecta, Type X 36
1061 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 36
1062 MTP028 Metaphyseal Dysplasia, Spahr Type 36
1063 OST062 Osteoarthritis with Mild Chondrodysplasia 36
1064 c 46X081 46,xx Sex Reversal 36
1065 P FML333 Familial Behcet-Like Autoinflammatory Syndrome 36
1066 P OSS001 Ossifying Fibroma 36
1067 c FNC034 Fanconi Renotubular Syndrome 2 36
1068 CNS013 Constricting Bands, Congenital 36
1069 STL007 Steel Syndrome 36
1070 c 46X057 46,xy Sex Reversal 8 36
1071 SPN250 Spondyloepimetaphyseal Dysplasia 35
1072 c SYN084 Synpolydactyly 1 35
1073 PTL002 Patellofemoral Pain Syndrome 35
1074 ODN025 Odontochondrodysplasia 1 35
1075 MYL002 Myelophthisic Anemia 35
1076 c OST123 Osteogenesis Imperfecta, Type Xiii 35
1077 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35
1078 SPN331 Spondyloocular Syndrome 35
1079 c MLT059 Multiple Synostoses Syndrome 1 34
1080 LSC003 Luscan-Lumish Syndrome 34
1081 P MYX008 Myxoid Chondrosarcoma 34
1082 c EPP015 Epiphyseal Dysplasia, Multiple, 3 34
1083 c NNN024 Noonan Syndrome 9 34
1084 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 34
1085 c BRC045 Brachyolmia Type 3 34
1086 c NNN034 Noonan Syndrome 12 34
1087 P BRC003 Brachyolmia 34
1088 P OVR096 Overlap Myositis 33
1089 c OST169 Osteogenesis Imperfecta, Type Xviii 33
1090 ORB011 Orbit Rhabdomyosarcoma 33
1091 PLN005 Palindromic Rheumatism 33
1092 GRC002 Gracile Bone Dysplasia 33
1093 c 46X047 46,xy Sex Reversal 7 33
1094 c OST176 Osteogenesis Imperfecta, Type Xx 33
1095 c ACR129 Acromesomelic Dysplasia 3 33
1096 c THR069 Three M Syndrome 2 33
1097 c ATN028 Autoinflammatory Syndrome, Familial, Behcet-Like 1 33
1098 c PRT060 Parietal Foramina 2 33
1099 P BND014 Bone Development Disease 32
1100 c NNN036 Noonan Syndrome 13 32
1101 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 32
1102 P KNN002 Kenny-Caffey Syndrome 32
1103 P ART169 Arthrogryposis Multiplex Congenita 6 32
1104 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
1105 SKL001 Skeletal Tuberculosis 31
1106 c SHR100 Short-Rib Thoracic Dysplasia 15 with Polydactyly 31
1107 BJL001 Bejel 31
1108 DGT002 Digital Clubbing, Isolated Congenital 31
1109 c NNN029 Noonan Syndrome 11 30
1110 ORB002 Orbit Embryonal Rhabdomyosarcoma 30
1111 c OST139 Osteogenesis Imperfecta, Type Xvi 30
1112 c OST138 Osteogenesis Imperfecta, Type Xvii 30
1113 SHS001 Shashi-Pena Syndrome 30
1114 TTH001 Tooth Ankylosis 30
1115 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 30
1116 EPP010 Epiphysiolysis of the Hip 30
1117 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 30
1118 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 30
1119 FRN022 Frontofacionasal Dysplasia 30
1120 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 30
1121 PTR002 Petroclival Meningioma 29
1122 c FNC066 Fanconi Renotubular Syndrome 5 29
1123 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 29
1124 BRN142 Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis 29
1125 P EXT030 Extraosseous Chondrosarcoma 29
1126 c MLT060 Multiple Synostoses Syndrome 2 29
1127 FBL014 Fibular Hemimelia 29
1128 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 29
1129 c SHW007 Shwachman-Diamond Syndrome 2 29
1130 OST168 Osteosclerotic Metaphyseal Dysplasia 28
1131 DYS048 Dysplasia Epiphysealis Hemimelica 28
1132 AML051 Aml with Myelodysplasia-Related Features 28
1133 OCL073 Oculoskeletodental Syndrome 28
1134 BNR001 Bone Remodeling Disease 28
1135 c VTM035 Vitamin D-Dependent Rickets, Type 3 28
1136 SPN228 Spondyloepiphyseal Dysplasia, Nishimura Type 28
1137 c CRN110 Cranioectodermal Dysplasia 3 28
1138 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 28
1139 c MLT078 Multiple Synostoses Syndrome 3 28
1140 ISC005 Ischemic Bone Disease 28
1141 c ART167 Arthrogryposis Multiplex Congenita 5 28
1142 c 46X048 46,xx Sex Reversal 2 28
1143 RDL022 Radial Hemimelia 28
1144 SDM007 Sodium-Dependent Multivitamin Transporter Deficiency 28
1145 FTL029 Fetal Thalidomide Syndrome 28
1146 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
1147 c MLG067 Malignant Giant Cell Tumor 27
1148 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 27
1149 c RBN023 Robinow Syndrome, Autosomal Recessive 2 27
1150 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
1151 GNT043 Genitopalatocardiac Syndrome 27
1152 c MCP055 Mucopolysaccharidosis, Type X 27
1153 TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 27
1154 IGG009 Igg4-Related Ophthalmic Disease 27
1155 ACR107 Acrofacial Dysostosis, Palagonia Type 27
1156 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 27
1157 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 27
1158 ULN023 Ulnar Hypoplasia 26
1159 VSS003 Vissers-Bodmer Syndrome 26
1160 c JVN019 Juvenile Temporal Arteritis 26
1161 OCL030 Oculoauriculofrontonasal Syndrome 26
1162 HGH023 High Bone Mass Osteogenesis Imperfecta 26
1163 c 46X046 46,xy Sex Reversal 4 26
1164 NNS134 Non-Syndromic Bicoronal Craniosynostosis 26
1165 c SHR116 Short-Rib Thoracic Dysplasia 20 with Polydactyly 26
1166 MZB001 Mazabraud Syndrome 26
1167 c SPN401 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 26
1168 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 26
1169 c RDL034 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 26
1170 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26
1171 P FRM004 Foramen Magnum Meningioma 25
1172 INT189 Interstitial Granulomatous Dermatitis with Arthritis 25
1173 c SHR113 Short-Rib Thoracic Dysplasia 18 with Polydactyly 25
1174 HGH021 Hughes-Stovin Syndrome 25
1175 SPN036 Spinal Chordoma 25
1176 c NNN038 Noonan Syndrome 14 25
1177 PTL010 Patella Aplasia-Hypoplasia 25
1178 ZNC006 Zinc, Elevated Plasma 24
1179 SPN425 Spondyloepimetaphyseal Dysplasia, Krakow Type 24
1180 c SYS081 Systemic Lupus Erythematosus 17 24
1181 LPS001 Liposarcoma of Bone 24
1182 BND004 Bone Deterioration Disease 24
1183 c 46X059 46,xx Sex Reversal 4 24
1184 c 46X058 46,xy Sex Reversal 10 24
1185 ACH002 Achilles Bursitis 24
1186 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 24
1187 ALR004 Alar Cleft, Isolated 24
1188 IGG008 Igg4-Related Mesenteritis 24
1189 INT363 Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies 24
1190 BNS002 Bone Structure Disease 24
1191 INF118 Inflammatory Myopathy with Abundant Macrophages 24
1192 ORB007 Orbital Cyst 24
1193 c ACR130 Acromesomelic Dysplasia 4 24
1194 P RDL033 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 24
1195 c EPP026 Epiphyseal Dysplasia, Multiple, 7 24
1196 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 24
1197 WHT021 White-Kernohan Syndrome 23
1198 CHN009 Chondroid Chordoma 23
1199 CLV001 Clivus Chondroid Chordoma 23
1200 c FNC049 Fanconi Renotubular Syndrome 3 23
1201 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 23
1202 BST002 Baastrup's Syndrome 23
1203 BRC020 Brachydactylous Dwarfism Mseleni Type 23
1204 c 46X056 46,xy Sex Reversal 5 23
1205 AML065 Amelia 23
1206 c ANG072 Angioedema, Hereditary, 4 23
1207 SHR130 Short Stature, Dauber-Argente Type 23
1208 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 23
1209 INT058 Intraorbital Meningioma 23
1210 VSC014 Vascular Hyalinosis 23
1211 c SYS040 Systemic Lupus Erythematosus 10 23
1212 ULN014 Ulnar Hemimelia 22
1213 c 46X080 46,xx Sex Reversal 5 22
1214 MSM019 Mesomelic Dysplasia, Savarirayan Type 22
1215 PLY135 Polydactyly, Postaxial, with Progressive Myopia 22
1216 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 22
1217 c SYS038 Systemic Lupus Erythematosus 2 22
1218 c SYS069 Systemic Lupus Erythematosus 6 22
1219 CRY024 Crystal Arthropathies 22
1220 IDP069 Idiopathic Avascular Necrosis 22
1221 CRN224 Craniofaciofrontodigital Syndrome 22
1222 TBT001 Tabatznik Syndrome 21
1223 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 21
1224 FBR101 Fibrous Dysplasia / Mccune-Albright Syndrome 21
1225 c MLT166 Multiple Synostoses Syndrome 4 21
1226 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 21
1227 c ANT041 Antiphospholipid Syndrome, Familial 21
1228 MLL024 Mueller-Weiss Syndrome 21
1229 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 21
1230 OTN001 Otoonychoperoneal Syndrome 21
1231 DYS013 Dysbaric Osteonecrosis 21
1232 IND009 Indeterminate Cell Histiocytosis 21
1233 SGL002 Sagliker Syndrome 21
1234 SLL002 Sella Turcica Neoplasm 21
1235 IMM242 Immunodeficiency 14b, Autosomal Recessive 21
1236 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 21
1237 c ANG073 Angioedema, Hereditary, 5 21
1238 c ANG074 Angioedema, Hereditary, 6 20
1239 c PSR022 Psoriasis 15, Pustular 20
1240 c EXS021 Exostoses, Multiple, Type Iii 20
1241 ULN007 Ulna Metaphyseal Dysplasia Syndrome 20
1242 HMF007 Hemifacial Hyperplasia with Strabismus 20
1243 MMB012 Membranous Cranial Ossification, Delayed 20
1244 PRG077 Progressive Nodular Histiocytosis 20
1245 CHR400 Chromosome 6q11-Q14 Deletion Syndrome 20
1246 c 46X050 46,xx Sex Reversal 3 20
1247 GNC010 Genochondromatosis 20
1248 DRG017 Drug-Induced Vasculitis 20
1249 c SYS041 Systemic Lupus Erythematosus 9 20
1250 ANG057 Angioosteohypotrophic Syndrome 20
1251 CND008 Condensing Osteitis of the Clavicle 20
1252 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 19
1253 ORB004 Orbital Osteomyelitis 19
1254 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 19
1255 c ANG076 Angioedema, Hereditary, 8 19
1256 CXR001 Coxoauricular Syndrome 19
1257 PPL038 Papular Xanthoma 19
1258 CLD006 Cleidorhizomelic Syndrome 19
1259 SPH003 Sphenoorbital Meningioma 19
1260 LMB003 Lumbosacral Lipoma 19
1261 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 18
1262 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18
1263 CRD215 Cardioskeletal Syndrome, Kuwaiti Type 18
1264 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 18
1265 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 18
1266 CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18
1267 c PRM150 Primary Localized Amyloidosis 18
1268 c DVL011 Developmental Dysplasia of the Hip 2 18
1269 c SYS065 Systemic Lupus Erythematosus 11 18
1270 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 18
1271 c SYS046 Systemic Lupus Erythematosus 3 18
1272 CTN031 Cutaneous Pseudolymphoma 18
1273 c ANT021 Anterior Foramen Magnum Meningioma 18
1274 BRC100 Brachydactyly, Combined B and E Types 18
1275 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 18
1276 c ANG075 Angioedema, Hereditary, 7 18
1277 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 18
1278 c SYS048 Systemic Lupus Erythematosus 8 18
1279 HYP497 Hyperphalangy 17
1280 c SYN040 Synpolydactyly 3 17
1281 CNG284 Congenital Pseudoarthrosis of the Tibia 17
1282 JXT002 Juxtacortical Chondrosarcoma 17
1283 OMP011 Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 17
1284 c CNT108 Central Polydactyly 17
1285 CNG529 Congenital Femoral Deficiency 17
1286 ORB003 Orbital Tenonitis 17
1287 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
1288 LYS030 Lysosomal Storage Disease with Skeletal Involvement 17
1289 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 17
1290 c SYS051 Systemic Lupus Erythematosus 4 17
1291 c SYS053 Systemic Lupus Erythematosus 5 17
1292 PST098 Postinfectious Vasculitis 17
1293 HLL014 Hallux Varus and Preaxial Polysyndactyly 17
1294 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
1295 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 17
1296 SND010 Sinding-Larsen-Johansson Disease 17
1297 CRN101 Craniosynostosis Philadelphia Type 16
1298 c ACT246 Acute Mast Cell Leukemia 16
1299 c LCL005 Localized Chondrosarcoma 16
1300 PNN003 Panner Disease 16
1301 c PRT113 Parietal Foramina 3 16
1302 c SYS055 Systemic Lupus Erythematosus 12 16
1303 OST173 Osteoradionecrosis of the Mandible 16
1304 WHB001 Wahab Syndrome 16
1305 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 16
1306 LTR005 Lateral Displacement of Eye 16
1307 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 16
1308 KLL013 Kallmann Syndrome-Heart Disease Syndrome 16
1309 c JVN045 Juvenile Ossifying Fibroma 15
1310 c SYS052 Systemic Lupus Erythematosus 13 15
1311 ACR027 Acrodysplasia Scoliosis 15
1312 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 15
1313 c KLP015 Klippel-Feil Syndrome 4 15
1314 c ACQ036 Acquired Angioedema Type 2 15
1315 c SYS047 Systemic Lupus Erythematosus 7 15
1316 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 15
1317 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
1318 c ART171 Arthrogryposis Multiplex Congenita-3 14
1319 c LTH052 Lethal Recessive Chondrodysplasia 14
1320 UNC016 Unclassified Vasculitis 14
1321 IDP040 Idiopathic Eosinophilic Myositis 14
1322 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
1323 c ART170 Arthrogryposis Multiplex Congenita-1 13
1324 c SYS045 Systemic Lupus Erythematosus 14 13
1325 APD003 Apodia 13
1326 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 13
1327 c ART172 Arthrogryposis Multiplex Congenita-4 12
1328 c SYS067 Systemic Lupus Erythematosus 15 12
1329 c ZYG007 Zygodactyly Type 3 12
1330 c FBN003 Fbn1-Related Marfan Syndrome 12
1331 TYP044 Type 1 Interferonopathy 12
1332 c KLP013 Klippel-Feil Syndrome 3 11
1333 PRN048 Prenatal Benign Hypophosphatasia 11
1334 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 11
1335 HMR042 Humero-Ulnar Synostosis 11
1336 HYP852 Hypocalcemic Rickets 11
1337 c FGF015 Fgfr1-Related Hartsfield Syndrome 11
1338 c ZYG005 Zygodactyly Type 4 10
1339 c FNC067 Fanconi Renotubular Syndrome 4 10
1340 TBF001 Tibio-Fibular Synostosis 10
1341 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
1342 NNS059 Non-Syndromic Limb Reduction Defect 10
1343 DBR003 Dobrow Syndrome 10
1344 P PRM337 Primary Osteolysis 9
1345 VSC036 Visceral Calciphylaxis 9
1346 SNG013 Single-Organ Polyarteritis Nodosa 9
1347 ORB001 Orbit Alveolar Rhabdomyosarcoma 9
1348 HRD225 Hereditary Angioedema with Normal C1inh Not Related to F12 or Plg Variant 9
1349 SPH002 Sphenocavernous Meningioma 9
1350 SVR046 Severe Lateral Tibial Bowing with Short Stature 9
1351 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1352 c ACQ035 Acquired Angioedema Type 1 8
1353 c SCN080 Secondary Avascular Necrosis 8
1354 BPR001 Bipartite Talus 8
1355 HMR031 Humeral Agenesis/hypoplasia 8
1356 ISL026 Isolated Sternocostoclavicular Hyperostosis 8
1357 FML352 Familial Scaphocephaly Syndrome 8
1358 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 8
1359 c ADL005 Adult Mesenchymal Chondrosarcoma 7
1360 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 7
1361 NNT060 Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18 7
1362 ERL060 Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia 7
1363 PRM333 Primary Bone Dysplasia with Decreased Bone Density 7
1364 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1365 LM5001 Lama5-Related Multisystemic Syndrome 7
1366 SCN081 Secondary Neonatal Autoimmune Disease 6
1367 BNM012 Bone Ameloblastoma 6
1368 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 6
1369 PRM332 Primary Bone Dysplasia with Defective Bone Mineralization 6
1370 c PRD045 Predominantly Large-Vessel Vasculitis 6
1371 TRM028 Terminal Transverse Limb Defect 6
1372 c DNS012 Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum 5
1373 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
1374 CHL175 Childhood Myxoid Chondrosarcoma 5
1375 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1376 NNS147 Non-Syndromic Unilambdoid Craniosynostosis 5
1377 NNS148 Non-Syndromic Unisutural Craniosynostosis 5
1378 c PRX099 Proximal Symphalangism 1 5
1379 NNS140 Non-Syndromic Bilambdoid Craniosynostosis 5
1380 NNS144 Non-Syndromic Unifrontosphenoidal Craniosynostosis 5
1381 CNG391 Congenital Pseudoarthrosis of the Limbs 5
1382 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
1383 UNX005 Unexplained Periodic Fever Syndrome 5
1384 MXD047 Mixed Autoinflammatory and Autoimmune Syndrome 5
1385 PHL011 Phalanx Chondroma 5
1386 HMR036 Humero-Ulnar Synostosis, Unilateral 5
1387 MR1002 Mir140-Related Spondyloepiphyseal Dysplasia 5
1388 DYS209 Dysostosis with Predominant Vertebral and Costal Involvement 5
1389 NNS136 Non-Syndromic Bicoronal and Sagittal Craniosynostosis 5
1390 ANT097 Antley-Bixler Syndrome Without Genital Anomaly or Disorder of Steroidogenesis 5
1391 MTC001 Metachronous Osteosarcoma of the Bone 4
1392 UNC023 Unclassified Autoinflammatory Syndrome 4
1393 TNS002 Tenosynovitis of Foot and Ankle 4
1394 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
1395 BLP052 Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome 4
1396 OTM003 Otomandibular Dysplasia Associated with Monogenic Syndromes 4
1397 c RRH025 Rare Hereditary Disease with Avascular Necrosis 4
1398 GRN058 Granulomatous Autoinflammatory Syndrome 4
1399 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 4
1400 DYS202 Dysostosis with Limb Anomaly As a Major Feature 3
1401 DYS206 Dysostosis with Brachydactyly with Extraskeletal Manifestations 3
1402 NNS056 Non-Syndromic Complex Polydactyly 3
1403 ECT112 Ectrodactyly with and Without Other Manifestations 3
1404 CLD020 Cleidocranial Dysplasia and Isolated Cranial Ossification Defect 3
1405 c ADL028 Adult Extraosseous Chondrosarcoma 3
1406 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
1407 RSS001 Ross River Fever 29
1408 BRM001 Barmah Forest Virus Disease 12
1409 BNM001 Bone Marrow Cancer 45
1410 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 36
1411 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 21
1412 P CRP001 Carpal Tunnel Syndrome 66
1413 CHR635 Chromosome 5q Deletion Syndrome 50
1414 c CRP037 Carpal Tunnel Syndrome 2 26
1415 WRN001 Werner Syndrome 69
1416 DNN001 Danon Disease 60
1417 TLC002 Tolchin-Le Caignec Syndrome 22
1418 P CNN005 Connective Tissue Disease 67
1419 c PSD066 Pseudohypoparathyroidism, Type Ib 57
1420 P SDR003 Sideroblastic Anemia 52
1421 ISL015 Isolated Growth Hormone Deficiency, Type Ib 44
1422 ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 34
1423 P INC034 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 32
1424 P THY129 Thyroid Hormone Metabolism, Abnormal, 1 32
1425 WRF003 Warfarin Syndrome 31
1426 NRD156 Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies 29
1427 CRN070 Corneodermatoosseous Syndrome 22
1428 c THY130 Thyroid Hormone Metabolism, Abnormal, 2 17
1429 NRD175 Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects 9
1430 c RRH035 Rare Hereditary Connective Tissue Disease 8
1431 c HRD010 Hereditary Spastic Paraplegia 68
1432 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 64
1433 P EMR001 Emery-Dreifuss Muscular Dystrophy 61
1434 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
1435 c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 60
1436 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
1437 P INF049 Infantile Myofibromatosis 58
1438 P MYT023 Myotonia Congenita 57
1439 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 57
1440 c MTC054 Mitochondrial Dna Depletion Syndrome 7 57
1441 SCP002 Scapuloperoneal Spinal Muscular Atrophy 57
1442 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
1443 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
1444 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
1445 c MTC063 Mitochondrial Dna Depletion Syndrome 3 53
1446 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1447 c MTC058 Mitochondrial Dna Depletion Syndrome 6 52
1448 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 52
1449 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 51
1450 c HRD227 Hereditary Spastic Paraplegia 35 51
1451 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
1452 c MTC060 Mitochondrial Dna Depletion Syndrome 9 50
1453 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 50
1454 c MTC062 Mitochondrial Dna Depletion Syndrome 2 50
1455 CRN048 Craniofacial-Deafness-Hand Syndrome 50
1456 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 49
1457 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1458 c MTC059 Mitochondrial Dna Depletion Syndrome 5 48
1459 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 48
1460 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 48
1461 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 48
1462 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 48
1463 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1464 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
1465 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 46
1466 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 46
1467 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 46
1468 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 46
1469 c HRD220 Hereditary Spastic Paraplegia 30 46
1470 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 45
1471 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 45
1472 c MTC088 Mitochondrial Dna Depletion Syndrome 13 45
1473 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 45
1474 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 45
1475 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 45
1476 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 45
1477 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
1478 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 44
1479 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 44
1480 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 44
1481 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1482 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 43
1483 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 43
1484 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 43
1485 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 43
1486 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 43
1487 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
1488 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
1489 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 42
1490 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 42
1491 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
1492 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 42
1493 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
1494 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
1495 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1496 IMM190 Immunodeficiency 55 40
1497 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 40
1498 SWN003 Sweeney-Cox Syndrome 40
1499 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
1500 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
1501 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39
1502 c MTC078 Mitochondrial Dna Depletion Syndrome 11 39
1503 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 38
1504 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 38
1505 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 38
1506 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
1507 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
1508 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
1509 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
1510 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 36
1511 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
1512 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 36
1513 c SPS092 Spastic Paraplegia 11 35
1514 c HRD229 Hereditary Spastic Paraplegia 56 35
1515 c HRD226 Hereditary Spastic Paraplegia 49 34
1516 P SPS012 Spastic Paraplegia 3a 34
1517 c CRB099 Cerebrooculofacioskeletal Syndrome 3 33
1518 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1519 c MTC126 Mitochondrial Dna Depletion Syndrome 14 33
1520 c SPS025 Spastic Paraplegia 15 32
1521 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 32
1522 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
1523 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
1524 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
1525 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
1526 c HRD188 Hereditary Spastic Paraplegia 72 30
1527 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
1528 c HRD186 Hereditary Spastic Paraplegia 51 30
1529 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
1530 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
1531 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1532 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 30
1533 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
1534 c SPS013 Spastic Paraplegia 8 29
1535 c SPS091 Spastic Paraplegia 4 29
1536 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1537 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1538 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 27
1539 c LTH027 Lethal Congenital Contracture Syndrome 5 26
1540 c HRD210 Hereditary Spastic Paraplegia 23 25
1541 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
1542 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
1543 c SPS230 Spastic Paraplegia Type 49 24
1544 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
1545 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
1546 c SPS042 Spastic Paraplegia 9 23
1547 c MTC182 Mitochondrial Dna Depletion Syndrome 16 23
1548 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 22
1549 c MTC213 Mitochondrial Dna Depletion Syndrome 19 22
1550 c MTC200 Mitochondrial Dna Depletion Syndrome 17 21
1551 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
1552 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1553 c MTC014 Mitochondrial Dna Deletion Syndromes 16
1554 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1555 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
1556 P ACQ041 Acquired Amegakaryocytic Thrombocytopenia 15
1557 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 15
1558 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1559 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1560 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1561 GRW038 Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 14
1562 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1563 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1564 MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 13
1565 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1566 c SPS040 Spastic Paraplegia 5b 7
1567 P OST002 Osteoporosis 81
1568 MSC157 Muscular Dystrophy, Duchenne Type 80
1569 P RTN008 Retinitis Pigmentosa 80
1570 P ART067 Aortic Aneurysm, Familial Thoracic 1 80
1571 c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80
1572 c DLT002 Dilated Cardiomyopathy 79
1573 c MCP050 Mucopolysaccharidosis, Type Ii 76
1574 c THR092 Thrombophilia Due to Thrombin Defect 75
1575 c MCP052 Mucopolysaccharidosis, Type Vi 71
1576 c MNN047 Mannosidosis, Alpha B, Lysosomal 71
1577 c SPN225 Spondyloarthropathy 1 71
1578 HRL003 Hurler Syndrome 70
1579 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1580 c PNC108 Pancreatitis, Hereditary 69
1581 SMT004 Smith-Lemli-Opitz Syndrome 69
1582 c MCP001 Mucopolysaccharidosis Iii 68
1583 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 67
1584 P CRN037 Craniosynostosis 65
1585 c MCP043 Mucopolysaccharidosis, Type Iiia 65
1586 RCK004 Rickets 65
1587 OST159 Osteogenic Sarcoma 65
1588 P CFF008 Coffin-Siris Syndrome 1 65
1589 P GRF003 Graft-Versus-Host Disease 65
1590 GRG001 Greig Cephalopolysyndactyly Syndrome 64
1591 c ART028 Aortic Aneurysm, Familial Thoracic 4 64
1592 P THR117 Three M Syndrome 1 63
1593 c MCP044 Mucopolysaccharidosis, Type Iiib 63
1594 CHR288 Chronic Recurrent Multifocal Osteomyelitis 63
1595 OST017 Osteomyelitis 63
1596 P ACR001 Aicardi-Goutieres Syndrome 63
1597 c MCP045 Mucopolysaccharidosis, Type Iiic 62
1598 SCH016 Schimke Immunoosseous Dysplasia 62
1599 P TRC072 Treacher Collins Syndrome 1 62
1600 c MCP004 Mucopolysaccharidosis Iv 62
1601 P HYP069 Hyperparathyroidism 62
1602 ASP002 Aspartylglucosaminuria 62
1603 P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 62
1604 PRM057 Paramyotonia Congenita of Von Eulenburg 62
1605 CHL028 Childhood Type Dermatomyositis 61
1606 WVR001 Weaver Syndrome 61
1607 P TRC086 Trichohepatoenteric Syndrome 1 60
1608 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 60
1609 CRN005 Craniofrontonasal Syndrome 60
1610 ADL030 Adult-Onset Still's Disease 60
1611 OST003 Osteonecrosis 60
1612 OST015 Osteochondrodysplasia 60
1613 P NTR004 Neutropenia 60
1614 GRN051 Granulomatous Disease, Chronic, X-Linked 60
1615 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
1616 CHR072 Chordoma 59
1617 c ACT027 Acute Pancreatitis 59
1618 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
1619 c STC015 Stickler Syndrome, Type I 58
1620 PSD012 Pseudoachondroplasia 58
1621 c CRB193 Cerebral Amyloid Angiopathy, App-Related 58
1622 c OST131 Osteopetrosis, Autosomal Dominant 2 57
1623 P EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 57
1624 c MCP048 Mucopolysaccharidosis, Type Ivb 57
1625 c RBN022 Robinow Syndrome, Autosomal Recessive 1 57
1626 c CHL140 Chilblain Lupus 1 56
1627 CPL003 Capillary Leak Syndrome 56
1628 c MCP046 Mucopolysaccharidosis, Type Iiid 56
1629 c CRD093 Cardiomyopathy, Dilated, 1a 56
1630 P FML052 Familial Cold Autoinflammatory Syndrome 56
1631 P WLL002 Weill-Marchesani Syndrome 56
1632 c CRD099 Cardiomyopathy, Dilated, 1e 55
1633 P FRN036 Frontonasal Dysplasia 1 55
1634 P PNC044 Pancreatitis 55
1635 PYD001 Pyoderma Gangrenosum 55
1636 P RHZ001 Rhizomelic Chondrodysplasia Punctata 54
1637 P BNC003 Bone Cancer 54
1638 c CRD080 Cardiomyopathy, Dilated, 1g 54
1639 DNT045 Dental Anomalies and Short Stature 53
1640 c GM1005 Gm1-Gangliosidosis, Type Ii 53
1641 YNS002 Yunis-Varon Syndrome 53
1642 c EPP017 Epiphyseal Dysplasia, Multiple, 1 53
1643 MCR225 Macrophage Activation Syndrome 53
1644 MTT002 Metatropic Dysplasia 53
1645 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 53
1646 c HYP292 Hypophosphatasia, Infantile 53
1647 FTL075 Fetal Encasement Syndrome 53
1648 c CRN278 Craniosynostosis 1 53
1649 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 52
1650 c CRD187 Cardiomyopathy, Dilated, 3b 52
1651 P SCL048 Sclerosteosis 52
1652 P FRN012 Frontometaphyseal Dysplasia 52
1653 P THR015 Thrombophilia 52
1654 OST016 Osteochondrosis 52
1655 c MYP125 Myopathy, Distal, 1 52
1656 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 51
1657 P EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 51
1658 P ACH011 Achondrogenesis 51
1659 P ANX007 Anauxetic Dysplasia 1 51
1660 P PRT042 Parietal Foramina 51
1661 SHR098 Short-Rib Thoracic Dysplasia 12 51
1662 ALP043 Alpha-2-Plasmin Inhibitor Deficiency 50
1663 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 50
1664 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 50
1665 c ACH033 Achondrogenesis, Type Ia 50
1666 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 50
1667 GNT026 Gnathodiaphyseal Dysplasia 50
1668 c ACT135 Acute Graft Versus Host Disease 49
1669 P OTS001 Otosclerosis 49
1670 CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 49
1671 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 49
1672 P PRR002 Pure Red-Cell Aplasia 49
1673 SPL004 Splenic Marginal Zone Lymphoma 49
1674 P ORF001 Orofaciodigital Syndrome 49
1675 P TTR031 Tetraamelia Syndrome 48
1676 FLP001 Filippi Syndrome 48
1677 c ATM024 Autoimmune Pancreatitis 48
1678 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 48
1679 c RTN041 Retinitis Pigmentosa 11 48
1680 c CHR417 Chronic Graft Versus Host Disease 48
1681 c RTS003 Ritscher-Schinzel Syndrome 1 48
1682 RNS001 Raine Syndrome 48
1683 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 48
1684 c CRD233 Cardiomyopathy, Dilated, 1b 48
1685 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 48
1686 c PSD106 Pseudo-Torch Syndrome 1 48
1687 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 47
1688 ATN021 Autoinflammatory Syndrome 47
1689 c RTN042 Retinitis Pigmentosa 12 47
1690 c RTN141 Retinitis Pigmentosa 39 47
1691 TNS014 Tenosynovitis 47
1692 c RTN172 Retinitis Pigmentosa 1 47
1693 c RTN069 Retinitis Pigmentosa 7 47
1694 c RTN162 Retinitis Pigmentosa 2 47
1695 TRC118 Trichodentoosseous Syndrome 47
1696 c CRD097 Cardiomyopathy, Dilated, 1d 47
1697 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 47
1698 P PRX021 Proximal Symphalangism 47
1699 MYP094 Myopathy, Spheroid Body 47
1700 c ACR116 Aicardi-Goutieres Syndrome 1 46
1701 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 46
1702 c OST136 Osteopetrosis, Autosomal Recessive 7 46
1703 CDG001 Cdags Syndrome 46
1704 c CRD105 Cardiomyopathy, Dilated, 1o 46
1705 c RTN058 Retinitis Pigmentosa 3 46
1706 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
1707 c RTN054 Retinitis Pigmentosa 25 46
1708 c CRN240 Craniometaphyseal Dysplasia, Autosomal Recessive 46
1709 c RTN055 Retinitis Pigmentosa 26 45
1710 c RTN043 Retinitis Pigmentosa 13 45
1711 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 45
1712 LRW001 Leri-Weill Dyschondrosteosis 45
1713 c WLL036 Weill-Marchesani Syndrome 1 45
1714 P CHN044 Chondrodysplasia Punctata Syndrome 44
1715 c RTN066 Retinitis Pigmentosa 4 44
1716 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 44
1717 c RTN044 Retinitis Pigmentosa 14 44
1718 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 44
1719 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 44
1720 PRS051 Parastremmatic Dwarfism 44
1721 WLD008 Wild-Type Amyloidosis 44
1722 TRM011 Terminal Osseous Dysplasia 44
1723 c CFF009 Coffin-Siris Syndrome 4 44
1724 c CRD155 Cardiomyopathy, Dilated, 1kk 44
1725 c CRD091 Cardiomyopathy, Dilated, 1dd 43
1726 BNS001 Bone Osteosarcoma 43
1727 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 43
1728 c MCP051 Mucopolysaccharidosis, Type Ix 43
1729 c MYP095 Myopathy, Distal, 4 43
1730 OST014 Osteopoikilosis 43
1731 c RTN159 Retinitis Pigmentosa 45 43
1732 c TRC078 Trichohepatoenteric Syndrome 2 43
1733 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 43
1734 SLT009 Solitary Bone Cyst 43
1735 c CRD069 Cardiomyopathy, Dilated, 1h 42
1736 c KNN007 Kenny-Caffey Syndrome, Type 2 42
1737 c RTN157 Retinitis Pigmentosa 37 42
1738 c RTN177 Retinitis Pigmentosa 73 42
1739 HYP041 Hypochondrogenesis 42
1740 BSL048 Basilicata-Akhtar Syndrome 41
1741 c RTN142 Retinitis Pigmentosa 38 41
1742 c RTN050 Retinitis Pigmentosa 20 41
1743 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 41
1744 BNS007 Bone Sarcoma 41
1745 c RTN090 Retinitis Pigmentosa 55 41
1746 c RTN047 Retinitis Pigmentosa 18 41
1747 c RTN062 Retinitis Pigmentosa 33 41
1748 c CRD090 Cardiomyopathy, Dilated, 1l 41
1749 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 41
1750 GNT001 Giant Cell Reparative Granuloma 41
1751 ATN011 Autoinflammation with Infantile Enterocolitis 41
1752 c FRN049 Frontometaphyseal Dysplasia 1 41
1753 c MYT027 Myotonia Congenita, Autosomal Dominant 41
1754 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 41
1755 c ORF038 Orofaciodigital Syndrome Iii 41
1756 c RTN085 Retinitis Pigmentosa 54 41
1757 FML307 Familial Calcium Pyrophosphate Deposition 40
1758 KMR001 Kimura Disease 40
1759 c CRD063 Cardiomyopathy, Dilated, 2a 40
1760 NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 40
1761 IMM187 Immunodeficiency 38 with Basal Ganglia Calcification 40
1762 c CFF011 Coffin-Siris Syndrome 6 40
1763 P PRM018 Primary Hypertrophic Osteoarthropathy 40
1764 c SVR110 Severe Congenital Neutropenia 4 40
1765 c RTN230 Retinitis Pigmentosa 88 39
1766 DST008 Diastematomyelia 39
1767 LCL004 Localized Osteosarcoma 39
1768 c KNN009 Kenny-Caffey Syndrome, Type 1 39
1769 c RTN180 Retinitis Pigmentosa 74 39
1770 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 39
1771 KHL001 Kohler's Disease 39
1772 c DNT021 Dent Disease 2 39
1773 c RTN210 Retinitis Pigmentosa 50 39
1774 c CRD114 Cardiomyopathy, Dilated, 1m 39
1775 c RTN059 Retinitis Pigmentosa 30 39
1776 c RTN048 Retinitis Pigmentosa 19 39
1777 c PLY149 Polydactyly, Preaxial Iv 39
1778 c SCN005 Secondary Hypertrophic Osteoarthropathy 38
1779 c CFF007 Coffin-Siris Syndrome 2 38
1780 c CRN277 Craniosynostosis 2 38
1781 c CFF010 Coffin-Siris Syndrome 3 38
1782 c ACR091 Aicardi-Goutieres Syndrome 4 38
1783 ACR095 Acrofacial Dysostosis, Cincinnati Type 38
1784 c ACR088 Aicardi-Goutieres Syndrome 3 38
1785 CHR391 Chromosome 15q24 Deletion Syndrome 38
1786 THR068 Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 38
1787 c RTN070 Retinitis Pigmentosa 9 38
1788 c WLL037 Weill-Marchesani Syndrome 2 38
1789 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 38
1790 c SVR106 Severe Congenital Neutropenia 5 38
1791 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 38
1792 c CRD101 Cardiomyopathy, Dilated, 1x 38
1793 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 37
1794 c RTN130 Retinitis Pigmentosa 46 37
1795 BKS003 Beukes Hip Dysplasia 37
1796 P YWS001 Yaws 37
1797 c ACR092 Aicardi-Goutieres Syndrome 5 37
1798 SPN438 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 37
1799 c TRC071 Treacher Collins Syndrome 3 37
1800 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
1801 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 37
1802 P MTP005 Metaphyseal Anadysplasia 37
1803 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 37
1804 c ACR081 Aicardi-Goutieres Syndrome 6 37
1805 c RTN146 Retinitis Pigmentosa 62 37
1806 c RTN056 Retinitis Pigmentosa 28 37
1807 CLR005 Clear Cell Chondrosarcoma 37
1808 c FRN048 Frontometaphyseal Dysplasia 2 37
1809 c CRD064 Cardiomyopathy, Dilated, 1ff 37
1810 c RTN046 Retinitis Pigmentosa 17 37
1811 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 37
1812 PTL009 Patella, Chondromalacia of 37
1813 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 37
1814 OSG001 Osgood-Schlatter's Disease 36
1815 c ACR090 Aicardi-Goutieres Syndrome 2 36
1816 c CRD082 Cardiomyopathy, Dilated, 1gg 36
1817 c RTN134 Retinitis Pigmentosa 40 36
1818 c RTN052 Retinitis Pigmentosa 23 36
1819 c RTN131 Retinitis Pigmentosa 27 36
1820 c WLL040 Weill-Marchesani Syndrome 4 36
1821 KKC001 Kikuchi Disease 36
1822 PRM319 Primary Bone Dysplasia 36
1823 P INT404 Intellectual Developmental Disorder, X-Linked, Syndromic 13 36
1824 c RTS002 Ritscher-Schinzel Syndrome 2 36
1825 P BNL002 Bone Lymphoma 36
1826 HMR015 Humeroradial Synostosis 36
1827 c RTN166 Retinitis Pigmentosa 69 35
1828 NNT039 Neonatal Marfan Syndrome 35
1829 c RTN171 Retinitis Pigmentosa 59 35
1830 c RTN237 Retinitis Pigmentosa 91 35
1831 c RTN150 Retinitis Pigmentosa 10 35
1832 c CRD104 Cardiomyopathy, Dilated, 1p 35
1833 BNS004 Bone Squamous Cell Carcinoma 35
1834 c PLY136 Polydactyly, Preaxial I 35
1835 PNT003 Pinta Disease 35
1836 c RTN152 Retinitis Pigmentosa 66 35
1837 c RTN176 Retinitis Pigmentosa 71 35
1838 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 34
1839 EHL061 Ehlers-Danlos Syndrome, Cardiac Valvular Type 34
1840 c RTN114 Retinitis Pigmentosa 58 34
1841 c CRD159 Cardiomyopathy, Dilated, 1hh 34
1842 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 34
1843 c ACR084 Aicardi-Goutieres Syndrome 7 34
1844 CNV021 Conventional Osteosarcoma 34
1845 c RTN186 Retinitis Pigmentosa 75 34
1846 c RTN149 Retinitis Pigmentosa 42 34
1847 SKL030 Skull Base Cancer 34
1848 c RTN217 Retinitis Pigmentosa 83 34
1849 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
1850 c CFF014 Coffin-Siris Syndrome 9 33
1851 c CRD102 Cardiomyopathy, Dilated, 1j 33
1852 TBL008 Tibial Hemimelia 33
1853 c RTN060 Retinitis Pigmentosa 31 33
1854 AXL003 Axial Osteomalacia 33
1855 c CRD107 Cardiomyopathy, Dilated, 1r 33
1856 c RTN227 Retinitis Pigmentosa 86 33
1857 c RTN234 Retinitis Pigmentosa 90 33
1858 c RTN165 Retinitis Pigmentosa 68 33
1859 c CRN281 Craniosynostosis 7 33
1860 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 33
1861 c TRC073 Treacher Collins Syndrome 2 33
1862 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 33
1863 PSD030 Pseudodiastrophic Dysplasia 33
1864 c RTN233 Retinitis Pigmentosa 89 33
1865 c RTN218 Retinitis Pigmentosa 84 32
1866 P RTS001 Ritscher-Schinzel Syndrome 32
1867 c CRD096 Cardiomyopathy, Dilated, 1ee 32
1868 HYP193 Hypocomplementemic Urticarial Vasculitis 32
1869 P TRC034 Torch Syndrome 32
1870 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 32
1871 c RTN144 Retinitis Pigmentosa 61 32
1872 HYP364 Hyperostosis Frontalis Interna 32
1873 c ORF036 Orofaciodigital Syndrome Xiv 32
1874 c SVR104 Severe Congenital Neutropenia 7 32
1875 P HRD207 Hereditary Transthyretin Amyloidosis 32
1876 c RTN140 Retinitis Pigmentosa 67 32
1877 c RTN190 Retinitis Pigmentosa 76 32
1878 c RTN064 Retinitis Pigmentosa 35 32
1879 SGR001 Sugarman Brachydactyly 32
1880 12Q002 12q14 Microdeletion Syndrome 32
1881 P GRW041 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 32
1882 c RTN106 Retinitis Pigmentosa 51 32
1883 c RTN116 Retinitis Pigmentosa 56 31
1884 c RTN061 Retinitis Pigmentosa 32 31
1885 c PSD107 Pseudo-Torch Syndrome 2 31
1886 CRN266 Craniofacial Dyssynostosis with Short Stature 31
1887 LMB010 Lambert Syndrome 31
1888 MCR119 Microtia, Hearing Impairment, and Cleft Palate 31
1889 c RTN192 Retinitis Pigmentosa 77 31
1890 c RTN178 Retinitis Pigmentosa 72 31
1891 c SYM022 Symphalangism, Proximal, 1a 31
1892 c INT384 Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type 31
1893 c INT435 Intellectual Developmental Disorder, X-Linked, Syndromic 33 31
1894 c RTN117 Retinitis Pigmentosa 57 31
1895 P NNT042 Neonatal Lupus Erythematosus 31
1896 c RTN160 Retinitis Pigmentosa 60 31
1897 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 31
1898 c RTN057 Retinitis Pigmentosa 29 31
1899 c RTN067 Retinitis Pigmentosa 41 31
1900 ACR017 Acrofacial Dysostosis 31
1901 c INT443 Intellectual Developmental Disorder, X-Linked, Syndromic, 35 30
1902 OTF006 Otofaciocervical Syndrome 2, with T-Cell Deficiency 30
1903 PRS145 Parosteal Osteosarcoma 30
1904 BNP002 Bone Epithelioid Hemangioma 30
1905 c FNG009 Feingold Syndrome 2 30
1906 CNG545 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies 30
1907 c RTN133 Retinitis Pigmentosa 43 30
1908 CHL163 Childhood Osteosarcoma 30
1909 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 30
1910 c FRN032 Frontonasal Dysplasia 3 30
1911 c ART071 Aortic Aneurysm, Familial Thoracic 6 30
1912 c RTN136 Retinitis Pigmentosa 44 30
1913 c RTN213 Retinitis Pigmentosa 80 30
1914 c ART105 Aortic Aneurysm, Familial Thoracic 7 30
1915 VRV001 Ververi-Brady Syndrome 30
1916 c RTN065 Retinitis Pigmentosa 36 30
1917 c PRS050 Prss1-Related Hereditary Pancreatitis 30
1918 c ATM102 Autoimmune Cardiomyopathy 30
1919 c RTN129 Retinitis Pigmentosa 49 30
1920 c INT436 Intellectual Developmental Disorder, X-Linked, Syndromic 34 30
1921 PRP024 Peripheral Osteosarcoma 29
1922 c CFF013 Coffin-Siris Syndrome 8 29
1923 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
1924 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 29
1925 FMR002 Femoral Cancer 29
1926 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 29
1927 P ACR093 Acrofrontofacionasal Dysostosis 29
1928 SPN208 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 29
1929 HMF010 Hemifacial Microsomia with Radial Defects 29
1930 c MYP112 Myopathy, Distal, 3 29
1931 c SVR109 Severe Congenital Neutropenia 8 29
1932 c ART134 Aortic Aneurysm, Familial Thoracic 10 29
1933 MSM016 Mesomelic Dysplasia, Kantaputra Type 29
1934 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 29
1935 PST044 Postorgasmic Illness Syndrome 28
1936 P PRT259 Proteasome-Associated Autoinflammatory Syndrome 28
1937 c CRN217 Craniosynostosis 3 28
1938 SML003 Small Cell Osteogenic Sarcoma 28
1939 c CRN221 Craniosynostosis 4 28
1940 c TTR028 Tetraamelia Syndrome 1 28
1941 c RTN143 Retinitis Pigmentosa 47 28
1942 SPR033 Superficial Spreading Melanoma 28
1943 c CFF012 Coffin-Siris Syndrome 7 28
1944 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 28
1945 NNS135 Non-Syndromic Sagittal Craniosynostosis 28
1946 c SYS066 Systemic Polyarteritis Nodosa 28
1947 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 28
1948 ORB009 Orbit Lymphoma 28
1949 c CFF017 Coffin-Siris Syndrome 12 28
1950 c RTN219 Retinitis Pigmentosa 85 28
1951 CRN200 Craniosynostosis and Dental Anomalies 27
1952 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 27
1953 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 27
1954 c CRD162 Cardiomyopathy, Dilated, 1ii 27
1955 FMR016 Femur-Fibula-Ulna Syndrome 27
1956 c CRD111 Cardiomyopathy, Dilated, 1i 27
1957 c ACR124 Aicardi-Goutieres Syndrome 9 27
1958 c ACQ016 Acquired Pure Red Cell Aplasia 27
1959 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 27
1960 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 27
1961 JNT001 Joint Laxity, Familial 27
1962 c MYP116 Myopathy, Distal, 5 27
1963 MCR039 Macrophagic Myofasciitis 27
1964 c CFF006 Coffin-Siris Syndrome 5 27
1965 c NNT025 Neonatal Systemic Lupus Erythematosus 27
1966 P FML337 Familial Chilblain Lupus 27
1967 KNB002 Kienbock's Disease 27
1968 IGG013 Igg4-Related Pachymeningitis 27
1969 c THR023 Thrombophilia Due to Thrombomodulin Defect 27
1970 c RTN068 Retinitis Pigmentosa 6 26
1971 c OTS005 Otosclerosis 1 26
1972 c CRD108 Cardiomyopathy, Dilated, 1bb 26
1973 XNT009 Xanthoma Disseminatum 26
1974 P ZYG003 Zygodactyly 1 26
1975 CVR001 Cavernous Sinus Meningioma 26
1976 c CRD115 Cardiomyopathy, Dilated, 1cc 26
1977 c CRN256 Craniosynostosis 6 26
1978 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
1979 ACR101 Acrocraniofacial Dysostosis 26
1980 c CRD149 Cardiomyopathy, Dilated, 1jj 26
1981 P MCR161 Macroglobulinemia, Waldenstrom 1 26
1982 c RTS005 Ritscher-Schinzel Syndrome 4 26
1983 c INT421 Intellectual Developmental Disorder, X-Linked, Syndromic 14 26
1984 c RTN169 Retinitis Pigmentosa 70 26
1985 c CRD060 Cardiomyopathy, Dilated, 1z 26
1986 c RTN053 Retinitis Pigmentosa 24 26
1987 c CRD112 Cardiomyopathy, Dilated, 1u 26
1988 c SYM019 Symphalangism, Proximal, 1b 25
1989 BNB001 Bone Benign Neoplasm 25
1990 c ANX011 Anauxetic Dysplasia 3 25
1991 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 25
1992 c ART107 Aortic Aneurysm, Familial Thoracic 8 25
1993 c TTR029 Tetraamelia Syndrome 2 25
1994 GLL035 Gillessen-Kaesbach-Nishimura Syndrome 25
1995 FBR028 Fibrosing Mediastinitis 25
1996 c SVR108 Severe Congenital Neutropenia 6 25
1997 c INT407 Intellectual Developmental Disorder, X-Linked, Syndromic 11 25
1998 c CRD113 Cardiomyopathy, Dilated, 1v 25
1999 c CRD092 Cardiomyopathy, Dilated, 1w 25
2000 PTT071 Pituitary Hormone Deficiency, Combined or Isolated, 7 25
2001 IMM247 Immunoglobulin Heavy Chain Amyloidosis 25
2002 c ACR105 Acrofrontofacionasal Dysostosis 2 25
2003 STC018 Stac3 Disorder 25
2004 PRP090 Peripheral Dysostosis 25
2005 c CRD173 Cardiomyopathy, Dilated, 1nn 25
2006 P VTM003 Vitamin Metabolic Disorder 25
2007 ART154 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 25
2008 MTP004 Metaphyseal Acroscyphodysplasia 25
2009 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 25
2010 c WLL038 Weill-Marchesani Syndrome 3 25
2011 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 24
2012 c CFF015 Coffin-Siris Syndrome 10 24
2013 c ACR123 Aicardi-Goutieres Syndrome 8 24
2014 c PSD121 Pseudo-Torch Syndrome 3 24
2015 c RTN051 Retinitis Pigmentosa 22 24
2016 c CRD153 Cardiomyopathy, Dilated, 2b 24
2017 c RNG015 Ring Chromosome 2 24
2018 c CHL114 Chilblain Lupus 2 24
2019 CLV012 Clavicle, Pseudarthrosis of, Congenital 24
2020 IGG015 Igg4-Related Thyroid Disease 24
2021 NNH013 Non-Histaminic Angioedema 24
2022 c RTN195 Retinitis Pigmentosa 79 24
2023 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 24
2024 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 24
2025 SPN349 Spondylometaphyseal Dysplasia, Type A4 24
2026 c CFF016 Coffin-Siris Syndrome 11 23
2027 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 23
2028 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 23
2029 c CRN216 Craniosynostosis 5 23
2030 c ART118 Aortic Aneurysm, Familial Thoracic 9 23
2031 c RTN147 Retinitis Pigmentosa 48 23
2032 STR014 Sternum Lymphoma 23
2033 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 23
2034 c NTR045 Neutropenia, Chronic Familial 23
2035 c DLT017 Dilated Cardiomyopathy 1t 23
2036 c RTN148 Retinitis Pigmentosa 63 23
2037 OST177 Osteochondrosis of the Metatarsal Bone 22
2038 c CRD250 Cardiomyopathy, Dilated, 2d 22
2039 ULN005 Ulna and Fibula, Hypoplasia of 22
2040 c CRD244 Cardiomyopathy, Dilated, 2c 22
2041 GLB029 Global Developmental Delay with Speech and Behavioral Abnormalities 22
2042 c CRD261 Cardiomyopathy, Dilated, 2g 22
2043 SHR123 Short Stature and Microcephaly with Genital Anomalies 22
2044 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 22
2045 STR017 Sternum Cancer 22
2046 c TRC126 Treacher Collins Syndrome 4 22
2047 c RTS004 Ritscher-Schinzel Syndrome 3 22
2048 SMM003 Summitt Syndrome 22
2049 c ART068 Aortic Aneurysm, Familial Thoracic 2 22
2050 c RTN214 Retinitis Pigmentosa 81 22
2051 c ART174 Aortic Aneurysm, Familial Thoracic 12 22
2052 c RTN196 Retinitis Pigmentosa 78 22
2053 MLT148 Multiple Pterygium Syndrome, X-Linked 22
2054 P RSS029 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha 21
2055 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 21
2056 c PRM243 Primary Bone Cancer 21
2057 CYL003 Cylindrical Spirals Myopathy 21
2058 HST018 Histiocytosis, Progressive Mucinous 21
2059 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 21
2060 c GRW042 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 21
2061 c CRD255 Cardiomyopathy, Dilated, 2e 21
2062 CHR159 Charlie M Syndrome 21
2063 FMR013 Femoral Agenesis/hypoplasia 21
2064 c ART133 Aortic Aneurysm, Familial Thoracic 11 21
2065 EDN001 Edinburgh Malformation Syndrome 21
2066 CLV003 Clivus Meningioma 21
2067 SPN353 Spondylometaphyseal Dysplasia, X-Linked 21
2068 c ACR103 Acrofrontofacionasal Dysostosis 1 21
2069 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 21
2070 END088 Endove Syndrome, Limb-Brain Type 20
2071 KT6003 Kat6b-Related Multiple Congenital Anomalies Syndrome 20
2072 c SVR103 Severe Congenital Neutropenia 1 20
2073 IGG014 Igg4-Related Sclerosing Cholangitis 20
2074 c CRD260 Cardiomyopathy, Dilated, 2f 20
2075 c WHM003 Whim Syndrome 2 20
2076 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 20
2077 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 20
2078 PYK001 Pyknoachondrogenesis 20
2079 c RTN239 Retinitis Pigmentosa 93 20
2080 c INT429 Intellectual Developmental Disorder, X-Linked, Syndromic 32 20
2081 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 20
2082 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 19
2083 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 19
2084 c RSS030 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta 19
2085 c RTN063 Retinitis Pigmentosa 34 19
2086 HND012 Handigodu Joint Disease 19
2087 c RTN238 Retinitis Pigmentosa 92 19
2088 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 19
2089 SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19
2090 APM002 Aapoai Amyloidosis 19
2091 c ATM063 Autoimmune Pancreatitis Type 2 19
2092 CMP016 Camptobrachydactyly 19
2093 ECT086 Ectrodactyly-Polydactyly 18
2094 BRC096 Brachydactyly-Distal Symphalangism Syndrome 18
2095 ARC009 Auriculoosteodysplasia 18
2096 c INT498 Intellectual Developmental Disorder, X-Linked, Syndromic 9 18
2097 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 18
2098 IGG012 Igg4-Related Submandibular Gland Disease 18
2099 c OTS007 Otosclerosis 3 18
2100 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
2101 BNC005 Bone Chondrosarcoma 18
2102 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 18
2103 OST046 Osteopathia Striata with Pigmentary Dermopathy Including White Forelock 18
2104 VLJ001 Viljoen Kallis Voges Syndrome 18
2105 c ACQ053 Acquired Neutropenia 18
2106 SPN347 Spondyloepiphyseal Dysplasia Tarda with Mental Retardation 17
2107 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
2108 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 17
2109 c INT470 Intellectual Developmental Disorder, X-Linked, Syndromic 7 17
2110 ORM001 Oro-Mandibular-Limb Hypogenesis Syndrome 17
2111 NNS132 Non-Syndromic Craniosynostosis 17
2112 SPN155 Spondylospinal Thoracic Dysostosis 17
2113 P RRC004 Rare Cardiomyopathy 17
2114 JVN060 Juvenile Idiopathic Inflammatory Myopathy 17
2115 ADC008 Adactylia, Unilateral 17
2116 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
2117 CNS012 Cono-Spondylar Dysplasia 16
2118 c OTS009 Otosclerosis 5 16
2119 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
2120 c OTS010 Otosclerosis 7 16
2121 c INT500 Intellectual Developmental Disorder, X-Linked, Syndromic 17 16
2122 c OTS012 Otosclerosis 10 16
2123 c SCN082 Secondary Vasculitis 16
2124 c OTS011 Otosclerosis 8 16
2125 PST104 Postaxial Oligodactyly, Tetramelic 16
2126 c SVR105 Severe Congenital Neutropenia 2 16
2127 MGC006 Magic Syndrome 16
2128 c NNS043 Nonsyndromic Retinitis Pigmentosa 16
2129 c PRM369 Primary Acquired Pure Red Cell Aplasia 16
2130 CLS055 Classic Pyoderma Gangrenosum 16
2131 c INT503 Intellectual Developmental Disorder, X-Linked, Syndromic 12 16
2132 c OTS006 Otosclerosis 2 15
2133 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 15
2134 P LGB001 Leg Absence Deformity Cataract 15
2135 c CRD070 Cardiomyopathy, Dilated, 1k 15
2136 AML037 Amelia of Upper Limb 15
2137 c OTS008 Otosclerosis 4 15
2138 RRS004 Rare Systemic Disease 15
2139 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 14
2140 SPN464 Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome 14
2141 P MYP124 Myopathy, Distal, Infantile-Onset 14
2142 P LTH050 Lethal Chondrodysplasia 14
2143 c CRD071 Cardiomyopathy, Dilated, 1q 14
2144 c ELN001 Elane-Related Neutropenia 14
2145 c ATS432 Autosomal Dominant Distal Myopathy 14
2146 c ORF006 Orofaciodigital Syndrome 13 13
2147 CRN204 Craniofacial Conodysplasia 13
2148 c ORF005 Orofaciodigital Syndrome 12 13
2149 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 13
2150 c CHR698 Chronic Mast Cell Leukemia 13
2151 GLS016 Glossopalatine Ankylosis 13
2152 c LMN001 Lmna-Related Dilated Cardiomyopathy 13
2153 NNT044 Neonatal Antiphospholipid Syndrome 13
2154 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 12
2155 c DSR027 Disorders of Vitamin D Metabolism 12
2156 CLF020 Cleft Palate Stapes Fixation Oligodontia 12
2157 OST154 Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures 12
2158 SYM014 Symbrachydactyly of Hands and Feet 12
2159 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12
2160 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 12
2161 NNT043 Neonatal Scleroderma 12
2162 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 12
2163 c ADL034 Adult Extraosseous Osteosarcoma 12
2164 LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 12
2165 INV014 Inverse Klippel-Trenaunay Syndrome 11
2166 c ATS431 Autosomal Recessive Distal Myopathy 11
2167 CNG283 Congenital Pseudoarthrosis of the Femur 11
2168 SYN002 Synchronous Multifocal Osteogenic Sarcoma 10
2169 CHL007 Childhood Extraosseous Osteosarcoma 10
2170 CNG566 Congenital Vascular Bone Syndrome 10
2171 IDP078 Idiopathic Phalangeal Acro-Osteolysis 9
2172 c LRP007 Lrp5-Related Primary Osteoporosis 9
2173 c THR126 Thrombophilia Due to Decreased Release of Plat 8
2174 EN1001 En1-Related Dorsoventral Syndrome 8
2175 c MCR162 Macroglobulinemia, Waldenstrom 2 8
2176 LWR003 Lower Clivus Meningioma 8
2177 NNS054 Non-Syndromic Postaxial Polydactyly 8
2178 c RRH022 Rare Hereditary Thrombophilia 8
2179 MLG006 Malignant Neoplasm of Short Bones of Lower Limb 8
2180 CHS003 Chest Wall Bone Cancer 8
2181 NNS055 Non-Syndromic Preaxial Polydactyly 7
2182 c PST023 Posterior Foramen Magnum Meningioma 7
2183 CNG610 Congenital Hypoplasia of Thumb 7
2184 UPP001 Upper Clivus Meningioma 7
2185 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
2186 LNG027 Long Bones of Lower Limb Cancer 7
2187 PRM320 Primary Bone Dysplasia with Micromelia 7
2188 CHR512 Cheirospondyloenchondromatosis 7
2189 SPN453 Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability 7
2190 SMD014 Samd9l-Associated Autoinflammatory Syndrome 7
2191 UNS002 Unspecified Juvenile Idiopathic Arthritis 7
2192 DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6
2193 OKH001 Okihiro Syndrome Due to a Point Mutation 6
2194 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
2195 c PLG011 Plg-Related Hereditary Angioedema with Normal C1inh 6
2196 OST013 Osteosarcoma Arising in Bone Paget's Disease 6
2197 ACQ052 Acquired Angioedema with C1inh Deficiency 6
2198 CHL041 Childhood Intracortical Osteosarcoma 6
2199 SLN010 Slender Bone Dysplasia 6
2200 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 6
2201 F12001 F12-Associated Cold Autoinflammatory Syndrome 6
2202 c GRW044 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 6
2203 c GRW043 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 6
2204 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 5
2205 CHL001 Childhood Parosteal Osteogenic Sarcoma 5
2206 P PRD043 Predominantly Small-Vessel Vasculitis 5
2207 c CRD027 Cardiomyopathy Due to Anthracyclines 5
2208 c OTS004 Otosclerosis, Familial 5
2209 NNS141 Non-Syndromic Unicoronal and Sagittal Craniosynostosis 5
2210 OVR117 Overgrowth Syndrome with 2q37 Translocation 5
2211 RDL019 Radio-Ulnar Synostosis, Unilateral 5
2212 SBD003 Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia 5
2213 PRD044 Predominantly Medium-Vessel Vasculitis 4
2214 SYN119 Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy 4
2215 PTL012 Patellar Dysostosis 4
2216 c CRN093 Craniosynostosis Autosomal Dominant 4
2217 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
2218 CHK001 Chikungunya 57
2219 ONY001 O'nyong'nyong Fever 19
2220 P FML011 Familial Adenomatous Polyposis 74
2221 c FML346 Familial Adenomatous Polyposis 1 66
2222 MYL031 Myeloproliferative Neoplasm 65
2223 P LKM002 Leukemia 62
2224 c FML347 Familial Adenomatous Polyposis 2 61
2225 c ACT073 Acute Leukemia 58
2226 ARM004 Aromatase Excess Syndrome 55
2227 HRY003 Hairy Cell Leukemia 54
2228 c CHR418 Chronic Leukemia 48
2229 P THP004 Thiopurines, Poor Metabolism of, 1 46
2230 c FML299 Familial Adenomatous Polyposis 3 39
2231 c FML339 Familial Adenomatous Polyposis 4 30
2232 c SBC006 Subacute Leukemia 26
2233 c THP005 Thiopurines, Poor Metabolism of, 2 18
2234 P BDY004 Body Mass Index Quantitative Trait Locus 11 80
2235 BHC003 Behcet Syndrome 74
2236 c INF071 Inflammatory Bowel Disease 1 74
2237 P SYS005 Systemic Scleroderma 73
2238 EWN003 Ewing Sarcoma 71
2239 P LVR013 Liver Disease 71
2240 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 70
2241 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 68
2242 RBR002 Roberts-Sc Phocomelia Syndrome 66
2243 ACH004 Achondroplasia 66
2244 EHL052 Ehlers-Danlos Syndrome, Vascular Type 66
2245 BLS001 Blau Syndrome 66
2246 TKY002 Takayasu Arteritis 64
2247 P EHL001 Ehlers-Danlos Syndrome 63
2248 PSR001 Psoriatic Arthritis 63
2249 LCR014 Lacrimoauriculodentodigital Syndrome 63
2250 WLL001 Williams-Beuren Syndrome 62
2251 P BLD124 Bleeding Disorder, Platelet-Type, 11 62
2252 ENC044 Enchondromatosis, Multiple, Ollier Type 62
2253 HNC001 Henoch-Schoenlein Purpura 62
2254 c LCL006 Localized Scleroderma 62
2255 AMY082 Amyloidosis, Familial Visceral 62
2256 c THR001 Thrombocytopenia Due to Platelet Alloimmunization 61
2257 NLP001 Nail-Patella Syndrome 61
2258 CRN051 Craniofacial Microsomia 61
2259 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 61
2260 c SCL052 Scleroderma, Familial Progressive 61
2261 P DRM010 Dermatomyositis 60
2262 BRG013 Buerger Disease 60
2263 HYP706 Hypermobile Ehlers-Danlos Syndrome 60
2264 c LYS021 Loeys-Dietz Syndrome 3 60
2265 LGG001 Legg-Calve-Perthes Disease 60
2266 c ORF040 Orofaciodigital Syndrome Viii 60
2267 c HYP293 Hypophosphatasia, Adult 59
2268 c PRD039 Periodontitis, Aggressive, 1 59
2269 P PGT001 Paget's Disease of Bone 59
2270 ULN003 Ulnar-Mammary Syndrome 59
2271 P AGG001 Aggressive Periodontitis 59
2272 c SPN330 Spondylocostal Dysostosis 5 58
2273 c EXS019 Exostoses, Multiple, Type I 58
2274 P MLG056 Malignant Hyperthermia 58
2275 P ISL078 Isolated Ectopia Lentis 58
2276 c RBN021 Rubinstein-Taybi Syndrome 1 58
2277 c CTS045 Cutis Laxa, Autosomal Dominant 1 58
2278 P PLY041 Polymyositis 58
2279 c MCL046 Mucolipidosis Iii Alpha/beta 58
2280 P CTS001 Cutis Laxa 57
2281 P ADM011 Adams-Oliver Syndrome 57
2282 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 57
2283 GRN013 Greenberg Dysplasia 57
2284 LNG108 Langerhans Cell Histiocytosis 57
2285 c ORF034 Orofaciodigital Syndrome Vi 57
2286 HYP074 Hypersensitivity Vasculitis 57
2287 3MC003 3mc Syndrome 57
2288 P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 57
2289 PYG003 Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne 57
2290 WYR002 Weyers Acrofacial Dysostosis 57
2291 LKC005 Leukocyte Adhesion Deficiency, Type Iii 56
2292 CNN011 Cenani-Lenz Syndactyly Syndrome 56
2293 KBG001 Kbg Syndrome 56
2294 CFF003 Caffey Disease 56
2295 P CHN012 Chondrosarcoma 56
2296 AMY084 Amyloidosis, Finnish Type 56
2297 RCT015 Reactive Arthritis 56
2298 P VTM026 Vitamin D Hydroxylation-Deficient Rickets, Type 1a 56
2299 c NML003 Nemaline Myopathy 2 55
2300 c ACT134 Acute Liver Failure 55
2301 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 55
2302 c OST164 Osteoporosis, Juvenile 55
2303 c OST121 Osteogenesis Imperfecta, Type Iv 55
2304 ERD001 Erdheim-Chester Disease 55
2305 ALV005 Alveolar Soft Part Sarcoma 55
2306 BRS002 Beare-Stevenson Cutis Gyrata Syndrome 55
2307 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 53
2308 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 53
2309 VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 53
2310 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 53
2311 CYS008 Cystic Echinococcosis 53
2312 P STV010 Stuve-Wiedemann Syndrome 1 53
2313 P TBH003 Teebi Hypertelorism Syndrome 1 53
2314 MLR003 Melorheostosis 53
2315 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 52
2316 JCK001 Jackson-Weiss Syndrome 52
2317 P INF037 Inflammatory Bowel Disease 52
2318 NRM019 Neuraminidase Deficiency 52
2319 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 52
2320 CNT056 Cantu Syndrome 51
2321 P SMT022 Smith-Mccort Dysplasia 1 51
2322 BLS002 Blastomycosis 51
2323 LRN006 Laurin-Sandrow Syndrome 51
2324 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 50
2325 c BDY021 Body Mass Index Quantitative Trait Locus 20 50
2326 IGG007 Igg4-Related Disease 50
2327 THR009 Thrombocytopenia-Absent Radius Syndrome 50
2328 PLS016 Plasma Cell Leukemia 50
2329 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 50
2330 HND004 Hand-Foot-Genital Syndrome 50
2331 P HRD001 Hereditary Multiple Exostoses 50
2332 LMT001 Limited Scleroderma 49
2333 SPN060 Spondylocarpotarsal Synostosis Syndrome 49
2334 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 49
2335 c VTM029 Vitamin D Hydroxylation-Deficient Rickets, Type 1b 49
2336 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 49
2337 HYP596 Hypophosphatasia, Childhood 48
2338 c NML004 Nemaline Myopathy 3 48
2339 c BDY020 Body Mass Index Quantitative Trait Locus 19 48
2340 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 48
2341 SCH072 Scheuermann Disease 48
2342 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
2343 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 48
2344 c ATS393 Autosomal Recessive Cutis Laxa Type I 47
2345 c MLG147 Malignant Hyperthermia 1 47
2346 P HYP776 Hyperparathyroidism, Neonatal Severe 47
2347 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 47
2348 P PLY148 Polydactyly, Preaxial Ii 46
2349 c SPL067 Split-Hand/foot Malformation 1 46
2350 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 46
2351 c INF145 Infantile Liver Failure Syndrome 1 46
2352 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46
2353 c NML006 Nemaline Myopathy 5 46
2354 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 45
2355 c JVN003 Juvenile Xanthogranuloma 45
2356 P PRD037 Periodontal Ehlers-Danlos Syndrome 44
2357 c BDY005 Body Mass Index Quantitative Trait Locus 9 43
2358 BMR001 Boomerang Dysplasia 43
2359 c ACR126 Acromesomelic Dysplasia 2c 43
2360 c CTS041 Cutis Laxa, Autosomal Dominant 3 43
2361 FBR002 Fibrosarcoma of Bone 43
2362 IVC001 Ivic Syndrome 43
2363 c NML002 Nemaline Myopathy 1 43
2364 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
2365 SPN248 Spondyloepimetaphyseal Dysplasia, Sponastrime Type 43
2366 c BLD120 Bleeding Disorder, Platelet-Type, 8 43
2367 TRS002 Tarsal-Carpal Coalition Syndrome 42
2368 OST115 Osteonecrosis of the Jaw 42
2369 c BLD126 Bleeding Disorder, Platelet-Type, 18 42
2370 c ADM005 Adams-Oliver Syndrome 1 42
2371 c BDY010 Body Mass Index Quantitative Trait Locus 4 42
2372 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
2373 ORB012 Orbital Cancer 41
2374 DPH019 Diaphanospondylodysostosis 41
2375 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41
2376 c BDY015 Body Mass Index Quantitative Trait Locus 12 41
2377 c LVR030 Liver Failure, Infantile, Transient 41
2378 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
2379 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 40
2380 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 40
2381 c ACQ012 Acquired Angioedema 40
2382 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 40
2383 MLT016 Multicentric Reticulohistiocytosis 40
2384 AKL001 Au-Kline Syndrome 40
2385 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 40
2386 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
2387 BRC120 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes 39
2388 c NML022 Nemaline Myopathy 10 39
2389 c NML005 Nemaline Myopathy 4 39
2390 c BDY006 Body Mass Index Quantitative Trait Locus 8 39
2391 c BDY012 Body Mass Index Quantitative Trait Locus 7 39
2392 VLP002 Valproate Embryopathy 39
2393 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
2394 P BLN001 Blount's Disease 39
2395 c NML010 Nemaline Myopathy 7 39
2396 c ORF043 Orofaciodigital Syndrome Ix 39
2397 DYS045 Dysosteosclerosis 38
2398 SLT016 Solitary Fibrous Tumor/hemangiopericytoma 38
2399 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
2400 c BLD157 Bleeding Disorder, Platelet-Type, 9 38
2401 APL032 Apolipoprotein a-Iv Associated Amyloidosis 38
2402 ESN015 Eosinophilic Fasciitis 37
2403 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 37
2404 c BLD152 Bleeding Disorder, Platelet-Type, 16 37
2405 MLT178 Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 37
2406 c NML024 Nemaline Myopathy 11, Autosomal Recessive 37
2407 c HMN021 Human T-Cell Leukemia Virus Type 1 37
2408 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 37
2409 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 36
2410 LKN024 Leukoencephalopathy, Brain Calcifications, and Cysts 36
2411 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 36
2412 CMP067 Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome 36
2413 OSB001 Osebold-Remondini Syndrome 36
2414 c BLD125 Bleeding Disorder, Platelet-Type, 17 36
2415 c ATP003 Atp6v0a2-Related Cutis Laxa 35
2416 c INF076 Inflammatory Bowel Disease 18 35
2417 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
2418 c INF170 Inflammatory Bowel Disease 29 35
2419 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 35
2420 P EXT032 Extraosseous Osteosarcoma 35
2421 SPN450 Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis 35
2422 c NML021 Nemaline Myopathy 9 35
2423 c ADM007 Adams-Oliver Syndrome 2 35
2424 c BDY007 Body Mass Index Quantitative Trait Locus 1 35
2425 c RNG029 Ring Chromosome 14 Syndrome 34
2426 c ADL027 Adult Dermatomyositis 34
2427 c BLD156 Bleeding Disorder, Platelet-Type, 14 34
2428 ANC002 Anca-Associated Vasculitis 34
2429 ANR009 Aneurysmal Bone Cysts 34
2430 TRN030 Transient Erythroblastopenia of Childhood 34
2431 THR088 Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 34
2432 P OTP008 Otopalatodigital Syndrome Spectrum Disorder 34
2433 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 34
2434 CYS041 Cystic Angiomatosis of Bone, Diffuse 34
2435 c ADM010 Adams-Oliver Syndrome 5 34
2436 PSR016 Psoriatic Juvenile Idiopathic Arthritis 34
2437 ADM013 Adamantinoma of Long Bones 34
2438 c INF093 Inflammatory Bowel Disease 14 34
2439 c NML007 Nemaline Myopathy 6 34
2440 c RNG008 Ring Chromosome 13 33
2441 c RNG023 Ring Chromosome 7 33
2442 c BLD133 Bleeding Disorder, Platelet-Type, 20 33
2443 PRS029 Periosteal Osteogenic Sarcoma 33
2444 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 33
2445 c INF088 Inflammatory Bowel Disease 5 32
2446 c RNG018 Ring Chromosome 22 32
2447 c INF161 Inflammatory Bowel Disease 28 32
2448 MLG014 Malignant Fibrous Histiocytoma of Bone 32
2449 c SVR040 Severe Congenital Nemaline Myopathy 32
2450 c INF194 Infantile Liver Failure Syndrome 32
2451 P LKM005 Leukemia, T-Cell, Chronic 32
2452 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 32
2453 SHX002 Shox-Related Short Stature 31
2454 MTC100 Metacarpal 4-5 Fusion 31
2455 c INF138 Infantile Liver Failure Syndrome 2 31
2456 ALG027 Al-Gazali-Bakalinova Syndrome 31
2457 c RNG017 Ring Chromosome 21 31
2458 CHN003 Chondroblastic Osteosarcoma 31
2459 c RNG004 Ring Chromosome 1 31
2460 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 31
2461 c MLG151 Malignant Hyperthermia 5 31
2462 CSN001 Cousin Syndrome 30
2463 c INF086 Inflammatory Bowel Disease 3 30
2464 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
2465 MYP149 Myopathy, Mitochondrial, and Ataxia 30
2466 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 30
2467 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 30
2468 THR021 Thrombophilia Due to Hrg Deficiency 30
2469 c INF160 Inflammatory Bowel Disease 17 30
2470 MXL017 Maxillary Cancer 30
2471 c RNG007 Ring Chromosome 12 30
2472 IDP085 Idiopathic Infantile Hypercalcemia 29
2473 TLN002 Telangiectatic Osteogenic Sarcoma 29
2474 c RNG022 Ring Chromosome 6 29
2475 c INF077 Inflammatory Bowel Disease 19 29
2476 STP011 Stapes Ankylosis with Broad Thumbs and Toes 29
2477 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 29
2478 RHZ019 Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly 29
2479 CRN272 Craniometadiaphyseal Dysplasia 29
2480 c RNG024 Ring Chromosome 8 29
2481 c RNG005 Ring Chromosome 10 28
2482 c RNG020 Ring Chromosome 4 28
2483 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 28
2484 MCR326 Microcephaly-Micromelia Syndrome 28
2485 SPN445 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 28
2486 FLR003 Florid Cemento-Osseous Dysplasia 28
2487 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28
2488 c BLD154 Bleeding Disorder, Platelet-Type, 12 28
2489 c INT274 Intermediate Congenital Nemaline Myopathy 28
2490 c INF089 Inflammatory Bowel Disease 6 28
2491 RMN002 Ramon Syndrome 28
2492 P VRT017 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 28
2493 MLR023 Melorheostosis, Isolated 28
2494 c VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 28
2495 c ADM009 Adams-Oliver Syndrome 4 28
2496 DGT005 Digital Arthropathy-Brachydactyly, Familial 27
2497 c INF075 Inflammatory Bowel Disease 16 27
2498 ASS004 Aase-Smith Syndrome I 27
2499 c INF072 Inflammatory Bowel Disease 11 27
2500 KYP002 Kyphomelic Dysplasia 27
2501 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 27
2502 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
2503 PRT043 Parietal Foramina with Cleidocranial Dysplasia 27
2504 c MLG148 Malignant Hyperthermia 2 27
2505 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 27
2506 c ADM012 Adams-Oliver Syndrome 6 26
2507 c INF193 Inflammatory Bowel Disease 30 26
2508 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 26
2509 c ORF042 Orofaciodigital Syndrome Xi 26
2510 IGG011 Igg4-Related Kidney Disease 26
2511 c RNG013 Ring Chromosome 18 26
2512 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
2513 c INF078 Inflammatory Bowel Disease 2 26
2514 c LVR033 Liver Disease, Severe Congenital 26
2515 MLR010 Melorheostosis with Osteopoikilosis 26
2516 PTR001 Petrositis 26
2517 FCL041 Focal Myositis 26
2518 TMP008 Tempi Syndrome 26
2519 c BLD132 Bleeding Disorder, Platelet-Type, 21 25
2520 c INF190 Infantile Liver Failure Syndrome 3 25
2521 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
2522 TBS009 Teebi-Shaltout Syndrome 25
2523 c BLD121 Bleeding Disorder, Platelet-Type, 15 25
2524 c INF082 Inflammatory Bowel Disease 23 25
2525 TFR002 Tafro Syndrome 25
2526 ACR020 Acropectorovertebral Dysplasia 25
2527 c RNG016 Ring Chromosome 20 25
2528 c RNG010 Ring Chromosome 15 25
2529 c BLD123 Bleeding Disorder, Platelet-Type, 13 25
2530 c INF067 Inflammatory Bowel Disease 10 25
2531 OST117 Osteomesopyknosis 25
2532 c BLD174 Bleeding Disorder, Platelet-Type, 24 25
2533 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 25
2534 MND001 Mandibular Cancer 25
2535 c ADL068 Adult-Onset Nemaline Myopathy 25
2536 c TBH004 Teebi Hypertelorism Syndrome 2 25
2537 SPN433 Spondyloepiphyseal Dysplasia, Kondo-Fu Type 25
2538 c BLD127 Bleeding Disorder, Platelet-Type, 19 24
2539 c ADM008 Adams-Oliver Syndrome 3 24
2540 FBR013 Fibrosarcomatous Osteosarcoma 24
2541 c INF083 Inflammatory Bowel Disease 24 24
2542 P RNG032 Ring Chromosome 24
2543 c INF092 Inflammatory Bowel Disease 9 24
2544 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 24
2545 P MLT017 Multifocal Osteogenic Sarcoma 24
2546 THM023 Thiemann Disease 24
2547 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 24
2548 c RNG006 Ring Chromosome 11 24
2549 c MTC204 Mitochondrial Dna Depletion Syndrome 18 24
2550 LWR016 Lowry-Maclean Syndrome 24
2551 c INF074 Inflammatory Bowel Disease 15 24
2552 P ADL037 Adult Xanthogranuloma 24
2553 CRN082 Craniofacial Dysostosis with Diaphyseal Hyperplasia 24
2554 GRR002 Gurrieri Syndrome 23
2555 c MLG149 Malignant Hyperthermia 3 23
2556 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 23
2557 BRN123 Branchial Arch Syndrome, X-Linked 23
2558 c INF079 Inflammatory Bowel Disease 20 23
2559 c RNG019 Ring Chromosome 3 23
2560 ACR019 Acropectoral Syndrome 23
2561 c RNG025 Ring Chromosome 9 23
2562 NCR009 Necrobiotic Xanthogranuloma 23
2563 JWC001 Jaw Cancer 23
2564 c RNG021 Ring Chromosome 5 23
2565 GRN016 Grant Syndrome 23
2566 c INF068 Inflammatory Bowel Disease 13 23
2567 c MNS019 Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 23
2568 c INF195 Inflammatory Bowel Disease 31, Autosomal Recessive 23
2569 c INF162 Inflammatory Bowel Disease 25 23
2570 c INF073 Inflammatory Bowel Disease 12 22
2571 c RNG012 Ring Chromosome 17 22
2572 MYP166 Myopathy, Myofibrillar, 12, Infantile-Onset, with Cardiomyopathy 22
2573 ACR079 Acrodysostosis with Multiple Hormone Resistance 22
2574 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 22
2575 c INF085 Inflammatory Bowel Disease 27 21
2576 c STV011 Stuve-Wiedemann Syndrome 2 21
2577 c MLG150 Malignant Hyperthermia 4 21
2578 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 21
2579 c INF087 Inflammatory Bowel Disease 4 21
2580 c INF090 Inflammatory Bowel Disease 7 21
2581 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 20
2582 OSL001 Oslam Syndrome 20
2583 c INF080 Inflammatory Bowel Disease 21 20
2584 c RNG011 Ring Chromosome 16 20
2585 c RNG014 Ring Chromosome 19 20
2586 UPN001 Upington Disease 20
2587 P RBN007 Rubinstein Taybi Like Syndrome 20
2588 KNS006 Kniest-Like Dysplasia, Lethal 20
2589 c LTB003 Ltbp4-Related Cutis Laxa 20
2590 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 20
2591 XLN086 X-Linked Ehlers-Danlos Syndrome 19
2592 BND017 Bone Dysplasia, Lethal, Holmgren Type 19
2593 MSM018 Mesomelic Limb Shortening and Bowing 19
2594 c ACQ027 Acquired Cutis Laxa 19
2595 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 19
2596 c MLG152 Malignant Hyperthermia 6 19
2597 PRM334 Primary Bone Dysplasia with Increased Bone Density 19
2598 BWN005 Bowing of Long Bones Congenital 18
2599 c INF081 Inflammatory Bowel Disease 22 18
2600 c FBL003 Fbln5-Related Cutis Laxa 18
2601 c RNG031 Ring Chromosome Y Syndrome 18
2602 AFB003 Afib Amyloidosis 18
2603 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 18
2604 c HMN022 Human T-Cell Leukemia Virus Type 2 18
2605 LRS009 Larsen-Like Syndrome, Lethal Type 18
2606 BRC095 Brachydactyly, Mononen Type 18
2607 c MXD051 Mixed Cryoglobulinemia Type Ii 18
2608 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 18
2609 c BLD168 Bleeding Disorder, Platelet-Type, 22 18
2610 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 17
2611 c INF084 Inflammatory Bowel Disease 26 17
2612 OST058 Osteopoikilosis and Dacryocystitis 17
2613 c INF091 Inflammatory Bowel Disease 8 17
2614 BLL018 Bullous Pyoderma Gangrenosum 17
2615 AST010 Astley-Kendall Syndrome 17
2616 PYD004 Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome 16
2617 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
2618 BNK001 Banki Syndrome 16
2619 BNN002 Bone Angioendothelial Sarcoma 16
2620 PHL009 Phalangeal Microgeodic Syndrome 15
2621 BCL019 B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome 15
2622 VGT002 Vegetative Pyoderma Gangrenosum 15
2623 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 15
2624 THM018 Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome 15
2625 c CNG579 Congenital Nemaline Myopathy 15
2626 IMM206 Immune Complex Mediated Vasculitis 14
2627 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 14
2628 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
2629 c PRM222 Primary Polyarteritis Nodosa 14
2630 c ELN002 Eln-Related Cutis Laxa 14
2631 c EFM001 Efemp2-Related Cutis Laxa 14
2632 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13
2633 SCN050 Secondary Non-Traumatic Avascular Necrosis 13
2634 NNT046 Neonatal Dermatomyositis 13
2635 PST107 Pustular Pyoderma Gangrenosum 13
2636 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 12
2637 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
2638 CLC050 Calciphylaxis Cutis 11
2639 PYR042 Pyramidal Molars-Abnormal Upper Lip Syndrome 11
2640 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
2641 RRR002 Rare Rheumatologic Disease 10
2642 c RRN022 Rare Inflammatory Bowel Disease 10
2643 c BDY016 Body Mass Index Quantitative Trait Locus 13 9
2644 MDS009 Mediastinal Osteogenic Sarcoma 9
2645 c BDY018 Body Mass Index Quantitative Trait Locus 15 8
2646 c BDY008 Body Mass Index Quantitative Trait Locus 2 8
2647 c BDY013 Body Mass Index Quantitative Trait Locus 5 8
2648 ORL028 Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy 8
2649 c PRD018 Periodontitis, Aggressive, 2 8
2650 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 8
2651 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 8
2652 c BDY014 Body Mass Index Quantitative Trait Locus 6 8
2653 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 7
2654 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 6
2655 c ASY003 Asynchronous Multifocal Osteogenic Sarcoma 5
2656 c HMN023 Human T-Cell Leukemia Virus Type 3 5
2657 NNT057 Neonatal Osteosclerotic Dysplasia 5
2658 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
2659 c RRD027 Rare Disease with Malignant Hyperthermia 5
2660 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 4
2661