Search results for chondrodysplasia

539 hits were found for chondrodysplasia

# Family MCID Name MIFTS Score
1
P CHN044 Chondrodysplasia Punctata Syndrome 43 6.335
2
c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49 5.788
3
c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47 5.560
4
c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28 5.549
5
MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49 5.348
6
P RHZ001 Rhizomelic Chondrodysplasia Punctata 49 5.331
7
CHN054 Chondrodysplasia, Blomstrand Type 45 5.322
8
c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43 4.782
9
c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39 4.776
10
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 4.556
11
CHN057 Chondrodysplasia, Grebe Type 36 4.506
12
CRT002 Cartilage-Hair Hypoplasia 58 4.337
13
MTP028 Metaphyseal Dysplasia, Spahr Type 28 4.295
14
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38 3.840
15
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44 3.748
16
c CHN017 Chondrodysplasia Punctata 1, X-Linked 14 3.569
17
CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 21 3.494
18
CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 19 3.358
19
c CHN018 Chondrodysplasia Punctata 2, X-Linked 25 3.275
20
OST062 Osteoarthritis with Mild Chondrodysplasia 43 3.259
21
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24 3.226
22
c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 17 3.217
23
c ATL011 Atelosteogenesis, Type I 37 3.207
24
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21 3.197
25
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 55 3.175
26
P XLN161 X-Linked Chondrodysplasia Punctata 29 2.978
27
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 33 2.879
28
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 17 2.879
29
EPP011 Epiphyseal Chondrodysplasia, Miura Type 19 2.857
30
TRC060 Trichoscyphodysplasia 10 2.831
31
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18 2.557
32
CHN026 Chondrodysplasia Calcificans Metaphysealis 11 2.496
33
ACR096 Acromesomelic Dysplasia, Demirhan Type 20 2.484
34
SCH030 Schneckenbecken Dysplasia 32 2.471
35
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 25 2.471
36
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 44 2.456
37
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 20 2.456
38
MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 6 2.056
39
LTH005 Lethal Chondrodysplasia Moerman Type 17 2.043
40
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 14 2.043
41
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 14 2.043
42
CHN027 Chondrodysplasia Lethal Recessive 15 2.028
43
P OTS002 Otospondylomegaepiphyseal Dysplasia 45 2.011
44
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 40 1.991
45
SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 21 1.991
46
CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 3 1.486
47
LTH006 Lethal Chondrodysplasia Seller Type 3 1.486
48
MTP035 Metaphyseal Chondrodysplasia, Pena Type 7 1.471
49
CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 3 1.471
50
CHN030 Chondrodysplasia Punctata Sheffield Type 3 1.471
51
MTP008 Metaphyseal Chondrodysplasia, Others 2 1.471
52
SHW002 Shwachman-Diamond Syndrome 63 1.454
53
MLT145 Multiple Enchondromatosis, Maffucci Type 51 1.454
54
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 34 1.454
55
OST165 Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions 4 1.454
56
CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 3 1.454
57
CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 2 1.454
58
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 1.434
59
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 22 1.434
60
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42 1.408
61
BND017 Bone Dysplasia, Lethal, Holmgren Type 21 1.408
62
ULN007 Ulna Metaphyseal Dysplasia Syndrome 18 1.408
63
FRS005 Fraser Jequier Chen Syndrome 5 1.408
64
OST015 Osteochondrodysplasia 54 0.140
65
P CRV039 Cervicitis 49 0.125
66
c BLD140 Blood Group, I System 37 0.125
67
DWR001 Dwarfism 48 0.121
68
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.121
69
P CTR002 Cataract 60 0.117
70
P ANR048 Aniridia 1 68 0.113
71
P ICH004 Ichthyosis 54 0.113
72
ALR002 Al-Raqad Syndrome 30 0.113
73
ANR038 Anorexia Nervosa 1 21 0.113
74
BLD137 Blood Group--Ahonen 17 0.113
75
P ZLL001 Zellweger Syndrome 56 0.109
76
PRX034 Peroxisome Disorders 20 0.109
77
OST012 Osteoarthritis 88 0.094
78
P BRC006 Brachydactyly 57 0.094
79
HPT082 Hepatic Adenomas, Familial 52 0.094
80
RFS006 Refsum Disease, Classic 63 0.089
81
P THR117 Three M Syndrome 1 52 0.089
82
P LPS004 Lupus Erythematosus 69 0.083
83
SKL017 Skeletal Dysplasias 48 0.083
84
PRX077 Peroxisomal Biogenesis Disorders 40 0.083
85
PRX001 Peroxisomal Disease 34 0.083
86
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.077
87
SCH068 Schwartz-Jampel Syndrome, Type 1 54 0.077
88
NNT017 Neonatal Adrenoleukodystrophy 52 0.077
89
MLB001 Mulibrey Nanism 46 0.077
90
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.077
91
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.077
92
c SYS001 Systemic Lupus Erythematosus 86 0.070
93
P HPT021 Hepatitis 75 0.070
94
ACH004 Achondroplasia 67 0.070
95
BRT054 Brittle Bone Disorder 67 0.070
96
RCK004 Rickets 63 0.070
97
DST005 Diastrophic Dysplasia 54 0.070
98
SPS057 Spasticity 41 0.070
99
GRN013 Greenberg Dysplasia 36 0.070
100
ALP046 Alport Syndrome, X-Linked 74 0.063
101
ADR007 Adrenoleukodystrophy 72 0.063
102
P RSP003 Respiratory Failure 71 0.063
103
SMT004 Smith-Lemli-Opitz Syndrome 70 0.063
104
P KLL001 Kallmann Syndrome 63 0.063
105
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.063
106
ICH054 Ichthyosis, X-Linked 59 0.063
107
NRN002 Neuronitis 43 0.063
108
EPD022 Epidermolysis Bullosa Pruriginosa 38 0.063
109
EPC005 Epicanthus 35 0.063
110
NNT004 Neonatal Respiratory Failure 33 0.063
111
CNG065 Congenital Contractures 27 0.063
112
c PRX050 Peroxisome Biogenesis Disorder 9b 22 0.063
113
P RHM011 Rheumatoid Arthritis 91 0.054
114
P ART022 Arthritis 77 0.054
115
P TRN020 Turner Syndrome 69 0.054
116
ATM095 Autoimmune Disease 66 0.054
117
MXD005 Mixed Connective Tissue Disease 66 0.054
118
CNN005 Connective Tissue Disease 65 0.054
119
P PNC044 Pancreatitis 64 0.054
120
SPN008 Spondyloepiphyseal Dysplasia Congenita 60 0.054
121
DBF001 D-Bifunctional Protein Deficiency 57 0.054
122
P PLY006 Polydactyly 57 0.054
123
P HYP726 Hypercalcemia, Infantile, 1 57 0.054
124
P HYP024 Hypoparathyroidism 55 0.054
125
MLT135 Multiple Sulfatase Deficiency 54 0.054
126
KNS001 Kniest Dysplasia 53 0.054
127
RTN023 Retinitis 52 0.054
128
P FNC043 Fanconi Anemia, Complementation Group E 52 0.054
129
P OCL001 Ocular Albinism 46 0.054
130
c ACH033 Achondrogenesis, Type Ia 46 0.054
131
CRB009 Cerebritis 41 0.054
132
LTH045 Lutheran Suppressor, X-Linked 41 0.054
133
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40 0.054
134
c DSB006 Desbuquois Dysplasia 1 39 0.054
135
VTM001 Vitamin K Deficiency Hemorrhagic Disease 35 0.054
136
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.054
137
AST010 Astley-Kendall Syndrome 15 0.054
138
INS024 Insulin-Like Growth Factor I 83 0.044
139
P HRT032 Heart Disease 80 0.044
140
P MTC003 Metachromatic Leukodystrophy 72 0.044
141
c JVN010 Juvenile Rheumatoid Arthritis 71 0.044
142
P TTR001 Tetralogy of Fallot 70 0.044
143
P DYS007 Dyskeratosis Congenita 68 0.044
144
AGN016 Aging 65 0.044
145
P NRP001 Neuropathy 63 0.044
146
MCR013 Microphthalmia 61 0.044
147
P DYS154 Dystonia 61 0.044
148
SPN027 Spinal Stenosis 60 0.044
149
c PRM005 Primary Hyperparathyroidism 59 0.044
150
c OST080 Osteogenesis Imperfecta, Type Ii 59 0.044
151
P MLT007 Multiple Epiphyseal Dysplasia 57 0.044
152
INC021 Incontinentia Pigmenti 57 0.044
153
P SCL018 Scoliosis 56 0.044
154
P ALP008 Alopecia 56 0.044
155
ENC044 Enchondromatosis, Multiple, Ollier Type 54 0.044
156
ACR011 Acromesomelic Dysplasia, Maroteaux Type 54 0.044
157
c ACH041 Achondrogenesis, Type Ii 53 0.044
158
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.044
159
ACR013 Acrodysostosis 53 0.044
160
P PTT014 Pitt-Hopkins Syndrome 52 0.044
161
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.044
162
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.044
163
OST016 Osteochondrosis 52 0.044
164
HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 51 0.044
165
P PSD015 Pseudohypoparathyroidism 50 0.044
166
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50 0.044
167
P FBR025 Fibrochondrogenesis 50 0.044
168
PYL017 Pyle Disease 49 0.044
169
RNL078 Renal Dysplasia 49 0.044
170
STS002 Situs Inversus 48 0.044
171
DYS018 Dysostosis 48 0.044
172
P ICH001 Ichthyosis Vulgaris 47 0.044
173
EXS001 Exostosis 46 0.044
174
c ACH042 Achondrogenesis, Type Ib 46 0.044
175
ALB002 Albinism 45 0.044
176
HYP017 Hypophosphatemia 45 0.044
177
P ACH011 Achondrogenesis 44 0.044
178
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.044
179
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.044
180
FBL002 Fibular Hypoplasia and Complex Brachydactyly 40 0.044
181
P BLN001 Blount's Disease 39 0.044
182
MXL016 Maxillonasal Dysplasia, Binder Type 39 0.044
183
c BRC081 Brachydactyly, Type C 38 0.044
184
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 37 0.044
185
SLP010 Slipped Capital Femoral Epiphysis 37 0.044
186
SPN331 Spondyloocular Syndrome 34 0.044
187
ACR016 Acromesomelic Dysplasia 33 0.044
188
ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 32 0.044
189
WRF003 Warfarin Syndrome 31 0.044
190
ATM052 Autoimmune Disease 1 30 0.044
191
P CXV002 Coxa Vara 30 0.044
192
c PRX063 Peroxisome Biogenesis Disorder 2a 29 0.044
193
KYP002 Kyphomelic Dysplasia 27 0.044
194
c PRX054 Peroxisome Biogenesis Disorder 12a 26 0.044
195
c PRX055 Peroxisome Biogenesis Disorder 11a 25 0.044
196
c PRX065 Peroxisome Biogenesis Disorder 3a 25 0.044
197
c PRX091 Peroxisome Biogenesis Disorder 8a 24 0.044
198
c PRX057 Peroxisome Biogenesis Disorder 4a 24 0.044
199
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.044
200
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.044
201
c PRX052 Peroxisome Biogenesis Disorder 13a 23 0.044
202
OSB001 Osebold-Remondini Syndrome 23 0.044
203
c PRX051 Peroxisome Biogenesis Disorder 6a 22 0.044
204
MSL005 Mseleni Joint Disease 22 0.044
205
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22 0.044
206
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 20 0.044
207
MSM003 Mesomelia 15 0.044
208
CHR459 Chromosome Xp Deletion 11 0.044
209
P PNC035 Pancreatic Cancer 89 0.031
210
AST005 Asthma 83 0.031
211
P RTN008 Retinitis Pigmentosa 81 0.031
212
P BLD134 Bladder Cancer 78 0.031
213
P OST002 Osteoporosis 75 0.031
214
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.031
215
ISC006 Ischemic Heart Disease 73 0.031
216
P FML018 Familial Mediterranean Fever 73 0.031
217
P DBT009 Diabetes Mellitus 72 0.031
218
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.031
219
WLS001 Wilson Disease 72 0.031
220
c SPN225 Spondyloarthropathy 1 71 0.031
221
c HMC039 Hemochromatosis, Type 1 71 0.031
222
P MNN013 Meningitis 71 0.031
223
P PNM007 Pneumonia 70 0.031
224
DWN001 Down Syndrome 70 0.031
225
ART016 Aortic Aneurysm 70 0.031
226
ACR007 Acromegaly 70 0.031
227
P OST001 Osteopetrosis 70 0.031
228
P MYP004 Myopathy 69 0.031
229
DMN002 Dementia 68 0.031
230
c HRD010 Hereditary Spastic Paraplegia 68 0.031
231
P HYD006 Hydrocephalus 68 0.031
232
SKN016 Skin Disease 68 0.031
233
P ART023 Arthropathy 68 0.031
234
PNC041 Pancreatic Ductal Adenocarcinoma 67 0.031
235
P PRP003 Porphyria Cutanea Tarda 67 0.031
236
DRM006 Dermatitis 67 0.031
237
NVS017 Nevus, Epidermal 66 0.031
238
P THN009 Thanatophoric Dysplasia, Type I 66 0.031
239
PSR001 Psoriatic Arthritis 66 0.031
240
P PSR002 Psoriasis 65 0.031
241
NRF007 Neurofibroma 65 0.031
242
SYS004 Systemic Mastocytosis 65 0.031
243
TTN003 Tetanus 65 0.031
244
RCT015 Reactive Arthritis 65 0.031
245
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 0.031
246
PRT010 Parathyroid Carcinoma 64 0.031
247
OST017 Osteomyelitis 64 0.031
248
CRP001 Carpal Tunnel Syndrome 64 0.031
249
HYP066 Hyperglycemia 64 0.031
250
P ALP009 Alopecia Areata 64 0.031
251
OST003 Osteonecrosis 63 0.031
252
IRR002 Irritable Bowel Syndrome 63 0.031
253
P CLD001 Cleidocranial Dysplasia 63 0.031
254
RHM027 Rheumatic Disease 62 0.031
255
P PRP029 Porphyria 62 0.031
256
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.031
257
THR024 Thrombosis 61 0.031
258
HYP266 Hypoxia 61 0.031
259
P EHL001 Ehlers-Danlos Syndrome 61 0.031
260
SYN007 Synovitis 61 0.031
261
P HMP007 Hemophilia 61 0.031
262
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.031
263
P SPN052 Spondyloarthropathy 61 0.031
264
ANR040 Aneurysm 61 0.031
265
SPT004 Septic Arthritis 60 0.031
266
P NTR004 Neutropenia 60 0.031
267
NTH001 Netherton Syndrome 60 0.031
268
JNT002 Joint Disorders 60 0.031
269
P HST010 Histiocytosis 60 0.031
270
GT001 Gout 60 0.031
271
P PRT013 Portal Hypertension 59 0.031
272
PRS047 Prostatitis 59 0.031
273
SNS001 Sensorineural Hearing Loss 59 0.031
274
MRT001 Muir-Torre Syndrome 59 0.031
275
P OST009 Osteochondritis Dissecans 58 0.031
276
P HYP069 Hyperparathyroidism 58 0.031
277
P HYP035 Hypophosphatasia 58 0.031
278
VSC002 Vascular Dementia 58 0.031
279
IMM158 Immune Suppression 57 0.031
280
P LPD010 Lipodystrophy 57 0.031
281
ECT006 Ectodermal Dysplasia 57 0.031
282
P LRY019 Laryngitis 57 0.031
283
PNM008 Pneumothorax 57 0.031
284
P STC001 Stickler Syndrome 56 0.031
285
P CHN012 Chondrosarcoma 56 0.031
286
BNF002 Bone Fracture 56 0.031
287
ANK001 Ankylosis 56 0.031
288
ACR008 Acrocallosal Syndrome 56 0.031
289
NLP001 Nail-Patella Syndrome 56 0.031
290
ALK013 Alkaptonuria 56 0.031
291
P MSC003 Muscular Atrophy 55 0.031
292
RDC002 Radiculopathy 55 0.031
293
SPN051 Spondylitis 55 0.031
294
SPN019 Spondylolisthesis 55 0.031
295
DGN001 Degenerative Disc Disease 55 0.031
296
ABL002 Ablepharon-Macrostomia Syndrome 55 0.031
297
DYS014 Dyspepsia 54 0.031
298
PGM001 Pigmented Villonodular Synovitis 54 0.031
299
PST021 Postpartum Depression 54 0.031
300
SPH001 Sapho Syndrome 54 0.031
301
ASP003 Aseptic Meningitis 54 0.031
302
PRP032 Porphyria Variegata 54 0.031
303
ISL001 Islet Cell Tumor 54 0.031
304
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.031
305
RST001 Restless Legs Syndrome 54 0.031
306
CLC001 Calciphylaxis 53 0.031
307
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.031
308
PRP016 Paraplegia 53 0.031
309
HYP068 Hyperostosis 52 0.031
310
OST011 Osteomalacia 52 0.031
311
URM002 Uremia 52 0.031
312
CLB010 Coloboma of Macula 52 0.031
313
P CHR345 Chronic Pain 52 0.031
314
KND001 Kindler Syndrome 52 0.031
315
SPN020 Spondylosis 52 0.031
316
CLC006 Calcinosis 51 0.031
317
ATN005 Autonomic Dysfunction 51 0.031
318
ART140 Arteries, Anomalies of 51 0.031
319
P PRX021 Proximal Symphalangism 51 0.031
320
BRX001 Bruxism 51 0.031
321
HMR002 Hemarthrosis 51 0.031
322
CHN070 Cohen-Gibson Syndrome 51 0.031
323
PRS045 Prostatic Hypertrophy 51 0.031
324
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.031
325
P GND004 Gonadal Dysgenesis 50 0.031
326
PRT029 Parathyroid Adenoma 50 0.031
327
HYD012 Hydrops Fetalis 50 0.031
328
PRT030 Parathyroid Gland Disease 50 0.031
329
HMS001 Hemosiderosis 50 0.031
330
ANS023 Anus, Imperforate 50 0.031
331
SLD003 Sialadenitis 49 0.031
332
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.031
333
MLT113 Multicentric Castleman Disease 49 0.031
334
RNL011 Renal Osteodystrophy 49 0.031
335
OCC006 Occipital Horn Syndrome 49 0.031
336
HYP063 Hypersplenism 49 0.031
337
P GNT008 Giant Cell Tumor 49 0.031
338
FBR009 Fibrous Dysplasia 49 0.031
339
c BRC078 Brachydactyly, Type A1 49 0.031
340
FRZ001 Frozen Shoulder 48 0.031
341
PLM017 Pulmonary Alveolar Microlithiasis 48 0.031
342
FSC004 Fasciitis 48 0.031
343
CRT017 Cartilage Disease 48 0.031
344
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.031
345
c HYP293 Hypophosphatasia, Adult 48 0.031
346
MLT006 Multidrug-Resistant Tuberculosis 48 0.031
347
c LBR014 Leber Congenital Amaurosis 4 48 0.031
348
P SDR002 Siderosis 48 0.031
349
c ACT078 Acute Porphyria 48 0.031
350
HYP025 Hyperphosphatemia 48 0.031
351
c BRN108 Branchiootic Syndrome 1 47 0.031
352
P MRD002 Marden-Walker Syndrome 47 0.031
353
SYN031 Synovial Chondromatosis 47 0.031
354
P DNT011 Dentinogenesis Imperfecta 47 0.031
355
MLT016 Multicentric Reticulohistiocytosis 47 0.031
356
PLY012 Polyhydramnios 47 0.031
357
P CHN059 Chondrocalcinosis 47 0.031
358
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.031
359
ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 46 0.031
360
c LSS005 Lissencephaly 1 46 0.031
361
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.031
362
CLB002 Clubfoot 46 0.031
363
SPN119 Spondylarthropathy 46 0.031
364
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.031
365
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.031
366
MCL075 Macular Dystrophy, Corneal 46 0.031
367
P MLT072 Multiple Synostoses Syndrome 46 0.031
368
PRX015 Paroxysmal Extreme Pain Disorder 46 0.031
369
BCK006 Back Pain 46 0.031
370
END072 Endotheliitis 46 0.031
371
NTR003 Natural Killer Cell Leukemia 45 0.031
372
TND004 Tendinopathy 45 0.031
373
c BRC079 Brachydactyly, Type A2 45 0.031
374
ONC003 Oncogenic Osteomalacia 45 0.031
375
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.031
376
MLT018 Multiple Carboxylase Deficiency 45 0.031
377
VLL003 Villonodular Synovitis 45 0.031
378
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45 0.031
379
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.031
380
OST004 Osteitis Fibrosa 45 0.031
381
MCR037 Macroglossia 44 0.031
382
SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 44 0.031
383
PST049 Postaxial Acrofacial Dysostosis 44 0.031
384
GLM008 Glomus Tumor 43 0.031
385
c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 43 0.031
386
c HMC009 Hemochromatosis Type 2 43 0.031
387
HRD026 Hereditary Ataxia 43 0.031
388
HYP189 Hypoadrenalism 43 0.031
389
FRY002 Fryns Syndrome 43 0.031
390
GNT031 Genitopatellar Syndrome 43 0.031
391
HYD003 Hydrarthrosis 43 0.031
392
BZX001 Bazex Syndrome 43 0.031
393
PSD009 Pseudohermaphroditism 42 0.031
394
CRT008 Carotid Artery Dissection 42 0.031
395
DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42 0.031
396
GLC086 Glucocorticoid-Induced Osteoporosis 42 0.031
397
BRS064 Bursitis 42 0.031
398
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.031
399
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.031
400
MLK003 Melkersson-Rosenthal Syndrome 42 0.031
401
CRN025 Corneal Dystrophy 42 0.031
402
TND005 Tendinitis 42 0.031
403
c ALZ056 Alzheimer Disease 3 41 0.031
404
CHN053 Chondromyxoid Fibroma 41 0.031
405
c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 41 0.031
406
OST097 Osteoporotic Fracture 41 0.031
407
PNC016 Pancreatic Cholera 41 0.031
408
PLS029 Plasminogen Activator Inhibitor-1 Deficiency 41 0.031
409
SPN060 Spondylocarpotarsal Synostosis Syndrome 41 0.031
410
c HYP057 Hypervitaminosis D 40 0.031
411
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.031
412
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.031
413
ADR038 Adermatoglyphia 40 0.031
414
PLY082 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 40 0.031
415
SCN001 Secondary Hyperparathyroidism of Renal Origin 40 0.031
416
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.031
417
MHR001 Mohr-Tranebjaerg Syndrome 39 0.031
418
CRN286 Corneal Dystrophy, Meesmann 39 0.031
419
CLR014 Clear Cell Adenoma 39 0.031
420
PLY112 Polyarteritis Nodosa, Childhood-Onset 39 0.031
421
c PSR018 Psoriasis 13 39 0.031
422
HYP041 Hypochondrogenesis 39 0.031
423
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.031
424
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.031
425
OPS002 Opsismodysplasia 38 0.031
426
STV003 Stuve-Wiedemann Syndrome 38 0.031
427
P ATL001 Atelosteogenesis 38 0.031
428
ENT004 Enthesopathy 38 0.031
429
c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38 0.031
430
c CTR122 Cataract 5, Multiple Types 38 0.031
431
OSG001 Osgood-Schlatter's Disease 37 0.031
432
HYP007 Hypermobility Syndrome 37 0.031
433
KSH004 Kashin-Beck Disease 37 0.031
434
P GLM006 Glomangioma 37 0.031
435
P HYP733 Hypercalciuria, Absorptive, 2 37 0.031
436
SXD001 Sex Differentiation Disease 37 0.031
437
HMP018 Hemophilic Arthropathy 37 0.031
438
P ANX007 Anauxetic Dysplasia 1 36 0.031
439
OCH001 Ochronosis 36 0.031
440
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 36 0.031
441
CHN011 Chondromalacia 36 0.031
442
INT003 Intracranial Hypotension 36 0.031
443
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 36 0.031
444
MTT002 Metatropic Dysplasia 35 0.031
445
CLC003 Cloacogenic Carcinoma 35 0.031
446
CHR178 Chromosomal Triplication 35 0.031
447
MNN028 Mononeuropathy of the Median Nerve, Mild 35 0.031
448
PLN007 Plantar Fasciitis 35 0.031
449
EPT021 Epithelial Recurrent Erosion Dystrophy 35 0.031
450
OVR093 Overhydrated Hereditary Stomatocytosis 35 0.031
451
PRN039 Paraneoplastic Syndromes 35 0.031
452
MYC014 Mycobacterium Chelonae 34 0.031
453
MNG003 Mungan Syndrome 34 0.031
454
PHS001 Phosphorus Metabolism Disease 34 0.031
455
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34 0.031
456
OST167 Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis 34 0.031
457
LYS021 Loeys-Dietz Syndrome 3 33 0.031
458
PRS037 Periostitis 33 0.031
459
GRW036 Growth Control, Y-Chromosome Influenced 33 0.031
460
c ATL015 Atelosteogenesis, Type Ii 33 0.031
461
GST039 Gastroduodenitis 33 0.031
462
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 0.031
463
MNR003 Mineral Metabolism Disease 33 0.031
464
ULN001 Ulnar Neuropathy 33 0.031
465
CRN273 Corneal Dystrophy, Subepithelial Mucinous 32 0.031
466
CDS002 Codas Syndrome 32 0.031
467
TTH001 Tooth Ankylosis 32 0.031
468
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.031
469
c INV003 Invasive Malignant Thymoma 32 0.031
470
LYM014 Lymphangitis 32 0.031
471
c EPP017 Epiphyseal Dysplasia, Multiple, 1 31 0.031
472
HMM002 Haim-Munk Syndrome 31 0.031
473
DYG001 Dyggve-Melchior-Clausen Disease 31 0.031
474
BNR001 Bone Remodeling Disease 31 0.031
475
ALG027 Al-Gazali-Bakalinova Syndrome 31 0.031
476
FTL029 Fetal Thalidomide Syndrome 30 0.031
477
EXT007 Extracutaneous Mastocytoma 30 0.031
478
P BRC003 Brachyolmia 30 0.031
479
JXT001 Juxtacortical Chondroma 30 0.031
480
THR017 Thoracoabdominal Syndrome 30 0.031
481
PLY135 Polydactyly, Postaxial, with Progressive Myopia 30 0.031
482
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29 0.031
483
c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29 0.031
484
c FML169 Familial Osteochondritis Dissecans 29 0.031
485
CSN001 Cousin Syndrome 28 0.031
486
SPN340 Spontaneous Intracranial Hypotension 28 0.031
487
VTR001 Vitreoretinal Dystrophy 28 0.031
488
c EPP014 Epiphyseal Dysplasia, Multiple, 4 28 0.031
489
DVL012 Developmental Dysplasia of the Hip 1 27 0.031
490
WGN003 Wagner Syndrome 27 0.031
491
c EPP013 Epiphyseal Dysplasia, Multiple, 5 27 0.031
492
PRR001 Periarthritis 27 0.031
493
SCL022 Scleredema 27 0.031
494
OCC008 Occipital Neuralgia 27 0.031
495
PRG090 Progressive Relapsing Multiple Sclerosis 26 0.031
496
PRF003 Piriformis Syndrome 26 0.031
497
TRC037 Tracheobronchomalacia 26 0.031
498
VTR002 Vitreous Syneresis 25 0.031
499
IMP003 Impaired Renal Function Disease 25 0.031
500
EXT012 Extraskeletal Chondroma 25 0.031
501
PRS051 Parastremmatic Dwarfism 25 0.031
502
SCL007 Sclerosing Hepatic Carcinoma 25 0.031
503
CLF051 Cleft Larynx, Posterior 24 0.031
504
FLR007 Failure of Tooth Eruption, Primary 23 0.031
505
BLD163 Blood Group, Dombrock System 23 0.031
506
NTR027 Neutrophil Actin Dysfunction 23 0.031
507
PRN008 Peroneal Nerve Paralysis 23 0.031
508
P JVN024 Juvenile Hereditary Hemochromatosis 22 0.031
509
c FML324 Familial Porphyria Cutanea Tarda 22 0.031
510
c DSB005 Desbuquois Dysplasia 2 22 0.031
511
FBR010 Fibrogenesis Imperfecta Ossium 22 0.031
512
SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 22 0.031
513
ATL010 Atlantoaxial Subluxation 21 0.031
514
ANT051 Anterior Cruciate Ligament Tears 21 0.031
515
EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 21 0.031
516
P CNG070 Congenital Dislocation of the Patella 21 0.031
517
PPL054 Popliteal Cyst 20 0.031
518
RNL089 Renal Nutcracker Syndrome 20 0.031
519
PLY150 Polykaryocytosis Inducer 20 0.031
520
P CLL020 Collagenopathy Type 2 Alpha 1 20 0.031
521
DFF027 Diffuse Lymphatic Malformation 19 0.031
522
VRT002 Vertebral Artery Insufficiency 19 0.031
523
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18 0.031
524
THM005 Thumb Deformity 18 0.031
525
MGR035 Migraine with Brainstem Aura 17 0.031
526
BLD153 Blood Group--Swann System 17 0.031
527
P FML048 Familial Avascular Necrosis of the Femoral Head 17 0.031
528
HDC005 Headache Associated with Sexual Activity 17 0.031
529
XP2001 Xp22.3 Microdeletion Syndrome 17 0.031
530
c NNT025 Neonatal Systemic Lupus Erythematosus 16 0.031
531
EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 14 0.031
532
TRC064 Trochlear Dysplasia 13 0.031
533
EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13 0.031
534
INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 11 0.031
535
HND010 Handigodu Disease 11 0.031
536
BRC020 Brachydactylous Dwarfism Mseleni Type 5 0.031
537
MSM020 Mesomelic Dysplasia, Camera Type 4 0.031
538
DPP001 Dappled Diaphyseal Dysplasia 3 0.031
539
MRT005 Maroteaux Stanescu Cousin Syndrome 3 0.031
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