Search results for chondrodysplasia

497 hits were found for chondrodysplasia

# Family MCID Name MIFTS Score
1
c CHN058 Chondrodysplasia Punctata, Rhizomelic, Type 2 43 5.758
2
c CHN062 Chondrodysplasia Punctata, Rhizomelic, Type 1 42 5.747
3
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 44 5.520
4
CHN054 Chondrodysplasia, Blomstrand Type 40 5.492
5
P CHN044 Chondrodysplasia Punctata Syndrome 36 5.453
6
c CHN061 Chondrodysplasia Punctata, Rhizomelic, Type 3 39 5.199
7
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 4.977
8
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 26 4.956
9
P RHZ001 Rhizomelic Chondrodysplasia Punctata 47 4.921
10
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 4.765
11
CHN057 Chondrodysplasia, Grebe Type 34 4.728
12
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 4.269
13
CRT002 Cartilage-Hair Hypoplasia 57 4.087
14
MTP028 Metaphyseal Dysplasia, Spahr Type 31 4.055
15
c CHN017 Chondrodysplasia Punctata 1, X-Linked 12 3.841
16
c RHZ013 Rhizomelic Chondrodysplasia Punctata Type 5 27 3.792
17
WSS003 Weissenbacher-Zweymuller Syndrome 41 3.753
18
c CHN018 Chondrodysplasia Punctata 2, X-Linked 15 3.570
19
CHN068 Chondrodysplasia Punctata, Autosomal Dominant Chondrodysplasia Punctata Due to Vitamin K Deficiency, Included 14 3.241
20
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 3.232
21
CHN037 Chondrodysplasia Punctata, Unclassified 6 3.223
22
OST062 Osteoarthritis with Mild Chondrodysplasia 21 3.191
23
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 18 3.191
24
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 16 2.915
25
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 2.873
26
c ATL011 Atelosteogenesis, Type I 35 2.862
27
EPP011 Epiphyseal Chondrodysplasia, Miura Type 16 2.862
28
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 42 2.835
29
P XLN161 X-Linked Chondrodysplasia Punctata 26 2.612
30
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 12 2.501
31
ACR096 Acromesomelic Dysplasia, Demirhan Type 17 2.488
32
SCH030 Schneckenbecken Dysplasia 32 2.459
33
OTS002 Otospondylomegaepiphyseal Dysplasia 48 2.442
34
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 17 2.442
35
c ATS181 Autosomal Dominant Chondrodysplasia Punctata 7 2.086
36
c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 11 2.061
37
LTH005 Lethal Chondrodysplasia Moerman Type 13 2.047
38
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 12 2.047
39
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 10 2.047
40
MTP031 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 10 2.047
41
CHN026 Chondrodysplasia Calcificans Metaphysealis 4 2.047
42
CHN027 Chondrodysplasia Lethal Recessive 12 2.032
43
CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 7 2.032
44
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 28 1.994
45
TRC060 Trichoscyphodysplasia 5 1.994
46
CHN030 Chondrodysplasia Punctata Sheffield Type 3 1.504
47
LTH006 Lethal Chondrodysplasia Seller Type 2 1.490
48
MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 2 1.490
49
CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 3 1.475
50
CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 2 1.475
51
MTP008 Metaphyseal Chondrodysplasia, Others 2 1.475
52
CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 2 1.457
53
SHW002 Shwachman-Diamond Syndrome 61 1.437
54
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 1.437
55
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 26 1.437
56
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26 1.437
57
MLT145 Multiple Enchondromatosis, Maffucci Type 40 1.410
58
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 1.410
59
c STC014 Stickler Syndrome, Type Iii 32 1.410
60
OSM002 Osmed Syndrome 21 1.410
61
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 17 1.410
62
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 1.410
63
FRS005 Fraser Jequier Chen Syndrome 3 1.410
64
OST015 Osteochondrodysplasia 52 0.152
65
DWR001 Dwarfism 47 0.121
66
P CTR002 Cataract 58 0.112
67
P ICH004 Ichthyosis 52 0.112
68
P CRV039 Cervicitis 45 0.108
69
P OST012 Osteoarthritis 83 0.103
70
PRX034 Peroxisome Disorders 39 0.103
71
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.092
72
ALR002 Al-Raqad Syndrome 36 0.092
73
ZLL001 Zellweger Syndrome 56 0.086
74
P BRC006 Brachydactyly 54 0.086
75
HPT074 Hepatic Adenoma, Somatic 50 0.086
76
HNM002 Hinman Syndrome 25 0.086
77
P LPS004 Lupus Erythematosus 64 0.073
78
DST005 Diastrophic Dysplasia 53 0.073
79
SKL014 Skeletal Dysplasia 46 0.073
80
SKL017 Skeletal Dysplasias 45 0.073
81
SPS057 Spasticity 42 0.073
82
PRX077 Peroxisomal Biogenesis Disorders 39 0.073
83
P RCK004 Rickets 61 0.065
84
EPD022 Epidermolysis Bullosa Pruriginosa 36 0.065
85
c PRX050 Peroxisome Biogenesis Disorder 9b 24 0.065
86
c SYS001 Systemic Lupus Erythematosus 86 0.056
87
P ART022 Arthritis 75 0.056
88
ADR007 Adrenoleukodystrophy 72 0.056
89
P HPT021 Hepatitis 69 0.056
90
ACH004 Achondroplasia 66 0.056
91
P RFS001 Refsum Disease 63 0.056
92
P KLL001 Kallmann Syndrome 61 0.056
93
KND001 Kindler Syndrome 57 0.056
94
P PLY006 Polydactyly 56 0.056
95
RTN023 Retinitis 50 0.056
96
RNL078 Renal Dysplasia 45 0.056
97
c PRX059 Peroxisome Biogenesis Disorder 1a 39 0.056
98
VTM001 Vitamin K Deficiency Hemorrhagic Disease 34 0.056
99
CNG065 Congenital Contractures 29 0.056
100
P RHM011 Rheumatoid Arthritis 89 0.046
101
P RTN008 Retinitis Pigmentosa 80 0.046
102
P RSP003 Respiratory Failure 71 0.046
103
P OST005 Osteogenesis Imperfecta 69 0.046
104
P MYP004 Myopathy 67 0.046
105
SMT004 Smith-Lemli-Opitz Syndrome 66 0.046
106
P TRN020 Turner Syndrome 65 0.046
107
CNN005 Connective Tissue Disease 62 0.046
108
MXD005 Mixed Connective Tissue Disease 62 0.046
109
P PNC044 Pancreatitis 61 0.046
110
MCR013 Microphthalmia 60 0.046
111
P NRP001 Neuropathy 59 0.046
112
ALP008 Alopecia 57 0.046
113
ORL015 Oral Squamous Cell Carcinoma 57 0.046
114
THR024 Thrombosis 57 0.046
115
ORL011 Oral Cancer 56 0.046
116
P SCL018 Scoliosis 55 0.046
117
P FNC043 Fanconi Anemia, Complementation Group E 55 0.046
118
NTH001 Netherton Syndrome 54 0.046
119
MLT135 Multiple Sulfatase Deficiency 53 0.046
120
KNS001 Kniest Dysplasia 53 0.046
121
TTH006 Tooth Disease 52 0.046
122
IMP002 Imperforate Anus 52 0.046
123
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.046
124
c DSB006 Desbuquois Dysplasia 1 50 0.046
125
THR013 Thoracic Outlet Syndrome 50 0.046
126
P INT063 Intellectual Disability 49 0.046
127
MLL012 Miller Syndrome 49 0.046
128
ICH054 Ichthyosis, X-Linked 46 0.046
129
STS002 Situs Inversus 46 0.046
130
PYL017 Pyle Disease 45 0.046
131
DYS018 Dysostosis 44 0.046
132
RGH009 Right Atrial Isomerism 44 0.046
133
c ACH033 Achondrogenesis, Type Ia 43 0.046
134
c ACH035 Achondrogenesis Ib 43 0.046
135
HYP017 Hypophosphatemia 43 0.046
136
CRN025 Corneal Dystrophy 42 0.046
137
NRN002 Neuronitis 41 0.046
138
P ACH011 Achondrogenesis 39 0.046
139
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.046
140
NNT004 Neonatal Respiratory Failure 37 0.046
141
GRN039 Greenberg Skeletal Dysplasia 35 0.046
142
ADP007 Adie Pupil 34 0.046
143
SCH068 Schwartz-Jampel Syndrome, Type 1 32 0.046
144
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 31 0.046
145
c PRX055 Peroxisome Biogenesis Disorder 11a 31 0.046
146
CRN246 Cranioosteoarthropathy 31 0.046
147
SDD003 Saddan 30 0.046
148
c PRX060 Peroxisome Biogenesis Disorder 5a 29 0.046
149
c PRX063 Peroxisome Biogenesis Disorder 2a 28 0.046
150
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.046
151
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.046
152
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.046
153
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.046
154
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.046
155
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.046
156
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.046
157
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.046
158
KYP002 Kyphomelic Dysplasia 23 0.046
159
AND005 Androgen Insensitivity Syndrome, Mild 16 0.046
160
MSM003 Mesomelia 15 0.046
161
P SCH015 Schizophrenia 77 0.032
162
STR067 Stroke, Ischemic 75 0.032
163
INS024 Insulin-Like Growth Factor I 75 0.032
164
c MCL042 Macular Degeneration, Age-Related, 1 73 0.032
165
TTR001 Tetralogy of Fallot 71 0.032
166
KWS002 Kawasaki Disease 70 0.032
167
P MTC003 Metachromatic Leukodystrophy 70 0.032
168
P LKM068 Leukemia, Chronic Myeloid, Somatic 68 0.032
169
PSY004 Psychotic Disorder 67 0.032
170
c HRD010 Hereditary Spastic Paraplegia 67 0.032
171
P CHR071 Charcot-Marie-Tooth Disease 67 0.032
172
P NSP012 Nasopharyngeal Carcinoma 66 0.032
173
P HYD006 Hydrocephalus 66 0.032
174
SKN016 Skin Disease 66 0.032
175
CRV047 Cervical Cancer, Somatic 65 0.032
176
P DYS154 Dystonia 65 0.032
177
PNC041 Pancreatic Ductal Adenocarcinoma 64 0.032
178
P DYS007 Dyskeratosis Congenita 63 0.032
179
P PRD008 Periodontitis 63 0.032
180
OST085 Osteosarcoma, Somatic 63 0.032
181
CHR063 Chronic Mucocutaneous Candidiasis 63 0.032
182
P LNG064 Lung Cancer Susceptibility 3 62 0.032
183
P BPL003 Bipolar Disorder 62 0.032
184
P VLC001 Velocardiofacial Syndrome 62 0.032
185
GST092 Gastroesophageal Reflux 62 0.032
186
SKN019 Skin Melanoma 62 0.032
187
c MCP009 Mucopolysaccharidosis Ii 62 0.032
188
P ALP009 Alopecia Areata 62 0.032
189
P SLV002 Salivary Gland Cancer 61 0.032
190
P ESP024 Esophagitis 61 0.032
191
EYD002 Eye Disease 61 0.032
192
HPY002 H. Pylori Infection 61 0.032
193
c ATM010 Autoimmune Hemolytic Anemia 60 0.032
194
P PRT013 Portal Hypertension 60 0.032
195
APP008 Appendicitis 60 0.032
196
c SYS004 Systemic Mastocytosis 60 0.032
197
P NRV006 Nervous System Cancer 60 0.032
198
P GST049 Gastrointestinal System Cancer 60 0.032
199
PRD007 Periodontal Disease 60 0.032
200
c VRL010 Viral Hepatitis 60 0.032
201
c MCP024 Mucopolysaccharidosis Type Vi 60 0.032
202
TNG009 Tongue Squamous Cell Carcinoma 59 0.032
203
P MRT001 Muir-Torre Syndrome 59 0.032
204
P NTR004 Neutropenia 59 0.032
205
INC021 Incontinentia Pigmenti 59 0.032
206
c MCP001 Mucopolysaccharidosis Iii 58 0.032
207
PPT005 Peptic Ulcer Disease 58 0.032
208
BRN012 Bronchiolitis Obliterans 58 0.032
209
P WLD002 Waldenstrom Macroglobulinemia 58 0.032
210
P CND004 Candidiasis 57 0.032
211
ABL002 Ablepharon-Macrostomia Syndrome 57 0.032
212
HRY003 Hairy Cell Leukemia 57 0.032
213
CNG008 Congenital Ichthyosiform Erythroderma 56 0.032
214
HRP004 Herpes Zoster 56 0.032
215
P DST002 Distal Arthrogryposis 56 0.032
216
PHR003 Pharyngitis 56 0.032
217
RBS001 Rabies 56 0.032
218
CLR003 Clear Cell Adenocarcinoma 56 0.032
219
GST023 Gastric Ulcer 56 0.032
220
P ANT006 Antiphospholipid Syndrome 56 0.032
221
VRL011 Viral Infectious Disease 55 0.032
222
JNT002 Joint Disorders 55 0.032
223
PLM034 Pulmonary Emphysema 55 0.032
224
SPN027 Spinal Stenosis 55 0.032
225
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.032
226
c THR092 Thrombophilia Due to Thrombin Defect 54 0.032
227
c THR082 Thrombophilia Due to Activated Protein C Resistance 54 0.032
228
KLP010 Klippel-Trenaunay-Weber Syndrome 54 0.032
229
BLD087 Bladder Cancer, Somatic 54 0.032
230
PRT002 Paratyphoid Fever 54 0.032
231
P RNL100 Renal Hypodysplasia/aplasia 1 53 0.032
232
SDC002 Sed Congenita 53 0.032
233
TWN003 Townes-Brocks Syndrome 53 0.032
234
c USH006 Usher Syndrome, Type 1b 53 0.032
235
PNM008 Pneumothorax 53 0.032
236
P CRV031 Cervical Adenocarcinoma 53 0.032
237
P USH001 Usher Syndrome 53 0.032
238
RTN018 Retinal Disease 53 0.032
239
P ATX004 Ataxia 53 0.032
240
P EPD003 Epidermolysis Bullosa Simplex 53 0.032
241
c HPT015 Hepatitis D 52 0.032
242
c OST080 Osteogenesis Imperfecta, Type Ii 52 0.032
243
MRG003 Marginal Zone B-Cell Lymphoma 52 0.032
244
OPT037 Optic Nerve Hypoplasia 52 0.032
245
GST063 Gastric Cancer Risk After H. Pylori Infection 52 0.032
246
ECT006 Ectodermal Dysplasia 52 0.032
247
c PRX045 Peroxisome Biogenesis Disorder 1b 52 0.032
248
NRP015 Neuropathy, Congenital Hypomyelinating 52 0.032
249
P HML001 Hemolytic-Uremic Syndrome 51 0.032
250
P GND004 Gonadal Dysgenesis 51 0.032
251
ORL004 Oral Submucous Fibrosis 51 0.032
252
DSS009 Disseminated Intravascular Coagulation 51 0.032
253
BLD131 Bladder Urothelial Carcinoma 51 0.032
254
c CRB103 Cerebral Cavernous Malformations-1 50 0.032
255
P EPD002 Epidermolytic Hyperkeratosis 50 0.032
256
HPT046 Hepatic Veno-Occlusive Disease 50 0.032
257
MST017 Mast Cell Disease 50 0.032
258
P MLT007 Multiple Epiphyseal Dysplasia 50 0.032
259
c CHR537 Charcot-Marie-Tooth Disease, Type 1e 50 0.032
260
RSS002 Roussy-Levy Syndrome 50 0.032
261
P CNG046 Congenital Fiber-Type Disproportion 50 0.032
262
c CHR527 Charcot-Marie-Tooth Disease, Type 1b 49 0.032
263
P PCH015 Pachyonychia Congenita 1 49 0.032
264
PRP016 Paraplegia 49 0.032
265
SPN019 Spondylolisthesis 49 0.032
266
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 49 0.032
267
PST021 Postpartum Depression 49 0.032
268
c ACT071 Acute Kidney Failure 49 0.032
269
MCL002 Macular Corneal Dystrophy 49 0.032
270
PLR001 Pleural Tuberculosis 49 0.032
271
c CNG464 Congenital Myopathy 49 0.032
272
DNR002 Duane-Radial Ray Syndrome 48 0.032
273
HYP063 Hypersplenism 48 0.032
274
P FBR025 Fibrochondrogenesis 48 0.032
275
CNT007 Central Nervous System Tuberculosis 48 0.032
276
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48 0.032
277
P PTT014 Pitt-Hopkins Syndrome 47 0.032
278
PLY012 Polyhydramnios 47 0.032
279
c BPL002 Bipolar I Disorder 47 0.032
280
NTR003 Natural Killer Cell Leukemia 47 0.032
281
P NML001 Nemaline Myopathy 47 0.032
282
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 47 0.032
283
BRD004 Borderline Personality Disorder 47 0.032
284
LYM051 Lymphomatoid Granulomatosis 47 0.032
285
VLV044 Vulvar Intraepithelial Neoplasia 47 0.032
286
P SPN250 Spondyloepimetaphyseal Dysplasia 47 0.032
287
PRP021 Peripheral Nervous System Neoplasm 46 0.032
288
c PRK027 Parkinson Disease 15, Autosomal Recessive 46 0.032
289
MMB001 Membranoproliferative Glomerulonephritis 46 0.032
290
FND002 Fundus Dystrophy 46 0.032
291
SRS007 Sorsby Fundus Dystrophy 46 0.032
292
ADR038 Adermatoglyphia 46 0.032
293
P CRB102 Cerebral Cavernous Malformations-2 46 0.032
294
P NRD007 Neurodegeneration with Brain Iron Accumulation 46 0.032
295
P MRD002 Marden-Walker Syndrome 46 0.032
296
BRN045 Brunner Syndrome 46 0.032
297
ALB002 Albinism 46 0.032
298
DJR004 Dejerine-Sottas Disease 46 0.032
299
P ICH001 Ichthyosis Vulgaris 46 0.032
300
CRY004 Cryoglobulinemia 46 0.032
301
MLT113 Multicentric Castleman Disease 46 0.032
302
ADN027 Adenomyosis 46 0.032
303
ESN011 Eisenmenger Syndrome 45 0.032
304
DSC009 Discoid Lupus Erythematosus 45 0.032
305
c USH033 Usher Syndrome, Type 3a 45 0.032
306
P MRC003 Mercury Poisoning 45 0.032
307
DPN005 Du Pan Syndrome 45 0.032
308
P CRN028 Corneal Ulcer 45 0.032
309
VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 45 0.032
310
P DYS026 Dysfibrinogenemia 45 0.032
311
c USH035 Usher Syndrome Type 2 45 0.032
312
P RPR003 Reproductive Organ Cancer 44 0.032
313
CRY001 Cryptogenic Organizing Pneumonia 44 0.032
314
CHR008 Choroiditis 44 0.032
315
c HRD026 Hereditary Ataxia 44 0.032
316
LYM067 Lymphoid Leukemia 44 0.032
317
NSH001 Nasu-Hakola Disease 44 0.032
318
P DNT011 Dentinogenesis Imperfecta 44 0.032
319
LGH004 Light Chain Deposition Disease 44 0.032
320
LYM012 Lymphoplasmacytic Lymphoma 44 0.032
321
VCS001 Vici Syndrome 43 0.032
322
P PRL003 Proliferative Glomerulonephritis 43 0.032
323
HYD012 Hydrops Fetalis 43 0.032
324
BRT030 Birth Defects 43 0.032
325
ATM033 Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 43 0.032
326
P ATM019 Autoimmune Polyendocrine Syndrome 43 0.032
327
LNG017 Lung Giant Cell Carcinoma 43 0.032
328
c INF069 Infantile Neuroaxonal Dystrophy 1 43 0.032
329
CHR286 Chronic Neutrophilic Leukemia 43 0.032
330
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 42 0.032
331
CRN241 Corneal Dystrophy, Congenital Stromal 42 0.032
332
OCL001 Ocular Albinism 42 0.032
333
FCL041 Focal Myositis 42 0.032
334
c USH008 Usher Syndrome, Type 1d 42 0.032
335
BRN107 Branchiootorenal Syndrome 1, with or Without Cataracts 42 0.032
336
EXS001 Exostosis 42 0.032
337
c CHR376 Charcot-Marie-Tooth Disease, Type 4d 42 0.032
338
P CRN026 Corneal Edema 42 0.032
339
CNT060 Central Serous Chorioretinopathy 41 0.032
340
ESN004 Eosinophilic Gastritis 41 0.032
341
MHR001 Mohr-Tranebjaerg Syndrome 41 0.032
342
WBR001 Weber Syndrome 41 0.032
343
BLN001 Blount's Disease 41 0.032
344
c DFN107 Deafness, Autosomal Dominant 10 41 0.032
345
CNV002 Conversion Disorder 41 0.032
346
c MCL041 Macular Degeneration, Age-Related, 7 40 0.032
347
DYS015 Dysentery 40 0.032
348
SCH003 Schizophreniform Disorder 40 0.032
349
c CRB094 Cerebral Cavernous Malformations 3 40 0.032
350
MLT018 Multiple Carboxylase Deficiency 40 0.032
351
GRD001 Giardiasis 40 0.032
352
P XLN110 X-Linked Charcot-Marie-Tooth Disease 40 0.032
353
DFF019 Diffuse Gastric Cancer 40 0.032
354
PSD009 Pseudohermaphroditism 40 0.032
355
MSM001 Meesmann Corneal Dystrophy 40 0.032
356
P BRN006 Branchiootorenal Syndrome 40 0.032
357
ATN003 Autonomic Nervous System Neoplasm 40 0.032
358
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 40 0.032
359
P BRN042 Branchiootic Syndrome 39 0.032
360
CRB009 Cerebritis 39 0.032
361
c USH012 Usher Syndrome, Type 2c 39 0.032
362
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 39 0.032
363
CMP009 Complement Deficiency 39 0.032
364
MLT084 Multicystic Dysplastic Kidney 39 0.032
365
c USH034 Usher Syndrome, Type 2d 39 0.032
366
c NRD008 Neurodegeneration with Brain Iron Accumulation 3 39 0.032
367
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38 0.032
368
PRP017 Periapical Periodontitis 38 0.032
369
c INT059 Internal Hemorrhoid 38 0.032
370
c ICH041 Ichthyosis, Autosomal Recessive 4b 38 0.032
371
BRN005 Brain Glioblastoma Multiforme 38 0.032
372
P NRX001 Neuroaxonal Dystrophy 38 0.032
373
LTX001 Latex Allergy 38 0.032
374
SXD001 Sex Differentiation Disease 38 0.032
375
CNN001 Cannabis Dependence 38 0.032
376
c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 38 0.032
377
CHR415 Chronic Venous Leg Ulcers 37 0.032
378
c BRC081 Brachydactyly, Type C 37 0.032
379
CVR010 Cavernous Malformation 37 0.032
380
DNS007 Dense Deposit Disease 37 0.032
381
KHN001 Kuhnt-Junius Degeneration 37 0.032
382
c CHR535 Charcot-Marie-Tooth Disease, Type 1c 37 0.032
383
EPD065 Epidermolytic Ichthyosis 37 0.032
384
PRX001 Peroxisomal Disease 37 0.032
385
FRY002 Fryns Syndrome 37 0.032
386
CWC001 Cowchock Syndrome 36 0.032
387
P ATL001 Atelosteogenesis 36 0.032
388
CNJ007 Conjunctivochalasis 36 0.032
389
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 36 0.032
390
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 36 0.032
391
c DFN124 Deafness, Autosomal Recessive 6 36 0.032
392
PDT025 Pediatric Multiple Sclerosis 36 0.032
393
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 36 0.032
394
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 35 0.032
395
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.032
396
P CRY007 Cryoglobulinemia, Familial Mixed 35 0.032
397
NRD015 Neurodegeneration with Brain Iron Accululation 5 35 0.032
398
PPT001 Peptic Esophagitis 35 0.032
399
ADL053 Adult Astrocytic Tumour 35 0.032
400
KYS001 Kyasanur Forest Disease 34 0.032
401
SPP003 Suppurative Periapical Periodontitis 34 0.032
402
SPN060 Spondylocarpotarsal Synostosis Syndrome 34 0.032
403
c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 34 0.032
404
SLP010 Slipped Capital Femoral Epiphysis 34 0.032
405
c BRN108 Branchiootic Syndrome 1 34 0.032
406
CHL078 Childhood-Onset Schizophrenia 34 0.032
407
LCR001 Lacrimal Duct Obstruction 34 0.032
408
PLS010 Plasma Protein Metabolism Disease 34 0.032
409
c DFN192 Deafness, Autosomal Dominant 23 34 0.032
410
OPS002 Opsismodysplasia 34 0.032
411
BLP001 Blepharochalasis 34 0.032
412
FTD001 Foot Drop 33 0.032
413
BWN006 Bowen's Disease 33 0.032
414
P HYP111 Hyperprolinemia 33 0.032
415
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 33 0.032
416
MCR001 Microcystic Meningioma 33 0.032
417
PHL003 Phlebotomus Fever 33 0.032
418
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 0.032
419
MRN001 Marantic Endocarditis 32 0.032
420
P CRN249 Cornea Plana 32 0.032
421
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 32 0.032
422
GNG006 Gingival Hypertrophy 32 0.032
423
DGN003 Degeneration of Macula and Posterior Pole 32 0.032
424
FLM001 Filamentary Keratitis 32 0.032
425
MLT035 Multifocal Choroiditis 32 0.032
426
c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 31 0.032
427
c EPP017 Epiphyseal Dysplasia, Multiple, 1 31 0.032
428
RTN187 Retinitis Pigmentosa-Deafness Syndrome 31 0.032
429
ACR016 Acromesomelic Dysplasia 31 0.032
430
c CHR374 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 31 0.032
431
CSN001 Cousin Syndrome 30 0.032
432
CPM001 Cap Myopathy 30 0.032
433
MTT002 Metatropic Dysplasia 30 0.032
434
VSC008 Vascular Hemostatic Disease 30 0.032
435
DVR006 Diversion Colitis 30 0.032
436
BSL037 Basal Laminar Drusen 30 0.032
437
CRN273 Corneal Dystrophy, Subepithelial Mucinous 30 0.032
438
RTN006 Retinal Drusen 30 0.032
439
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 30 0.032
440
c RTN060 Retinitis Pigmentosa 31 29 0.032
441
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 29 0.032
442
RNL104 Renal Hypodysplasia 29 0.032
443
c JVN024 Juvenile Hereditary Hemochromatosis 29 0.032
444
C3G002 C3 Glomerulopathy 29 0.032
445
CNJ017 Conjunctival Nevus 29 0.032
446
SQM005 Squamous Papillomatosis 28 0.032
447
MDD015 Mid-Dermal Elastolysis 28 0.032
448
c CHR093 Chronic Orbital Inflammation 28 0.032
449
CNG032 Congenital Structural Myopathy 28 0.032
450
ACT003 Acute Kidney Tubular Necrosis 28 0.032
451
STR086 Stromal Dystrophy 28 0.032
452
MCL054 Macular Degeneration, Age-Related, 14, Reduced Risk of 28 0.032
453
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.032
454
c CHR316 Charcot-Marie-Tooth Neuropathy X 27 0.032
455
c CHR565 Chromosomal Deletion Syndrome 27 0.032
456
SPS002 Spastic Entropion 27 0.032
457
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 0.032
458
c ICH014 Ichthyosis Lamellar 1 26 0.032
459
CNT023 Central Nervous System Hemangioma 26 0.032
460
CHR053 Chronic Follicular Conjunctivitis 26 0.032
461
CRN274 Corneal Dystrophy, Posterior Amorphous 26 0.032
462
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.032
463
RHM013 Rheumatoid Nodulosis 26 0.032
464
HMN031 Human Venous Malformation 25 0.032
465
c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 25 0.032
466
SNL004 Senile Ectropion 25 0.032
467
c BRN046 Branchiootorenal Spectrum Disorders 25 0.032
468
c CND025 Candidiasis, Familial, 8 24 0.032
469
FSC003 Fasciolopsiasis 24 0.032
470
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 23 0.032
471
TRC037 Tracheobronchomalacia 23 0.032
472
CMB008 Combined Oxidative Phosphorylation Deficiency 23 0.032
473
c DSB005 Desbuquois Dysplasia 2 23 0.032
474
FML292 Familial Drusen 23 0.032
475
c CRB051 Cerebral Cavernous Malformation, Familial 23 0.032
476
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 22 0.032
477
ALC002 Alcohol-Related Neurodevelopmental Disorder 22 0.032
478
c SVR040 Severe Congenital Nemaline Myopathy 22 0.032
479
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.032
480
c CHR571 Charcot-Marie-Tooth Disease Type 5 21 0.032
481
c INT274 Intermediate Congenital Nemaline Myopathy 20 0.032
482
CHL107 Childhood-Onset Nemaline Myopathy 20 0.032
483
MSL005 Mseleni Joint Disease 19 0.032
484
c JVN052 Juvenile-Onset Parkinson Disease 19 0.032
485
BRN121 Branchiootorenal/branchiootic Syndrome 18 0.032
486
TYP026 Typical Congenital Nemaline Myopathy 18 0.032
487
OSB001 Osebold-Remondini Syndrome 17 0.032
488
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.032
489
HYD057 Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect 17 0.032
490
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 16 0.032
491
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 16 0.032
492
c TYP019 Type Ii Collagenopathies 12 0.032
493
AST010 Astley-Kendall Syndrome 12 0.032
494
EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 11 0.032
495
EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 10 0.032
496
DPP001 Dappled Diaphyseal Dysplasia 5 0.032
497
MRT005 Maroteaux Stanescu Cousin Syndrome 2 0.032
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