Search results for chondrodysplasia

363 hits were found for chondrodysplasia

# Family MCID Name MIFTS Score
1
c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 50 5.698
2
c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46 5.626
3
CHN054 Chondrodysplasia, Blomstrand Type 42 5.581
4
P CHN044 Chondrodysplasia Punctata Syndrome 35 5.526
5
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47 5.419
6
P RHZ001 Rhizomelic Chondrodysplasia Punctata 48 5.272
7
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 45 5.058
8
c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39 5.043
9
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27 5.027
10
CHN057 Chondrodysplasia, Grebe Type 35 4.794
11
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42 4.611
12
CRT002 Cartilage-Hair Hypoplasia 58 4.159
13
c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36 4.133
14
MTP028 Metaphyseal Dysplasia, Spahr Type 26 4.115
15
c CHN017 Chondrodysplasia Punctata 1, X-Linked 12 3.903
16
CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 22 3.826
17
c CHN018 Chondrodysplasia Punctata 2, X-Linked 16 3.629
18
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22 3.283
19
c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 16 3.283
20
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20 3.248
21
CHN037 Chondrodysplasia Punctata, Unclassified 6 3.248
22
OST062 Osteoarthritis with Mild Chondrodysplasia 22 3.236
23
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17 2.963
24
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 31 2.929
25
c ATL011 Atelosteogenesis, Type I 37 2.903
26
EPP011 Epiphyseal Chondrodysplasia, Miura Type 18 2.903
27
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 2.872
28
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42 2.872
29
MVD010 Moved to 184840 31 2.872
30
P XLN161 X-Linked Chondrodysplasia Punctata 26 2.667
31
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 15 2.553
32
SCH030 Schneckenbecken Dysplasia 32 2.510
33
ACR096 Acromesomelic Dysplasia, Demirhan Type 18 2.510
34
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 21 2.492
35
c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 12 2.095
36
LTH005 Lethal Chondrodysplasia Moerman Type 16 2.079
37
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 13 2.079
38
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13 2.079
39
CHN026 Chondrodysplasia Calcificans Metaphysealis 6 2.079
40
CHN027 Chondrodysplasia Lethal Recessive 14 2.062
41
CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 7 2.062
42
RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 17 2.042
43
P OTS002 Otospondylomegaepiphyseal Dysplasia 44 2.019
44
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 38 2.019
45
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34 2.019
46
TRC060 Trichoscyphodysplasia 4 2.019
47
CHN030 Chondrodysplasia Punctata Sheffield Type 3 1.519
48
LTH006 Lethal Chondrodysplasia Seller Type 2 1.519
49
MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 2 1.519
50
CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 3 1.501
51
CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 2 1.501
52
MTP008 Metaphyseal Chondrodysplasia, Others 2 1.501
53
SHW002 Shwachman-Diamond Syndrome 61 1.482
54
CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 2 1.482
55
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 1.458
56
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 26 1.458
57
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 20 1.458
58
MLT145 Multiple Enchondromatosis, Maffucci Type 46 1.427
59
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 40 1.427
60
BND017 Bone Dysplasia, Lethal, Holmgren Type 20 1.427
61
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 19 1.427
62
FRS005 Fraser Jequier Chen Syndrome 3 1.427
63
OST015 Osteochondrodysplasia 52 0.166
64
DWR001 Dwarfism 45 0.148
65
P CTR002 Cataract 57 0.134
66
P ICH004 Ichthyosis 53 0.134
67
P CRV039 Cervicitis 45 0.128
68
PRX034 Peroxisome Disorders 39 0.123
69
ALR002 Al-Raqad Syndrome 29 0.123
70
P OST012 Osteoarthritis 79 0.111
71
ZLL001 Zellweger Syndrome 58 0.105
72
HPT074 Hepatic Adenoma, Somatic 44 0.105
73
HNM002 Hinman Syndrome 27 0.105
74
P BRC006 Brachydactyly 55 0.098
75
SKL014 Skeletal Dysplasia 46 0.091
76
SKL017 Skeletal Dysplasias 44 0.091
77
P LPS004 Lupus Erythematosus 63 0.083
78
DST005 Diastrophic Dysplasia 53 0.083
79
SPS057 Spasticity 42 0.083
80
PRX077 Peroxisomal Biogenesis Disorders 40 0.083
81
ACH004 Achondroplasia 66 0.074
82
P RFS001 Refsum Disease 61 0.074
83
P RCK004 Rickets 57 0.074
84
EPD022 Epidermolysis Bullosa Pruriginosa 38 0.074
85
CNG065 Congenital Contractures 30 0.074
86
c PRX050 Peroxisome Biogenesis Disorder 9b 24 0.074
87
AND005 Androgen Insensitivity Syndrome, Mild 16 0.074
88
c SYS001 Systemic Lupus Erythematosus 86 0.064
89
ADR007 Adrenoleukodystrophy 72 0.064
90
P HPT021 Hepatitis 68 0.064
91
P RSP003 Respiratory Failure 68 0.064
92
P KLL001 Kallmann Syndrome 62 0.064
93
P PLY006 Polydactyly 54 0.064
94
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.064
95
SCH068 Schwartz-Jampel Syndrome, Type 1 47 0.064
96
c PRX059 Peroxisome Biogenesis Disorder 1a 36 0.064
97
NNT004 Neonatal Respiratory Failure 35 0.064
98
c PRX060 Peroxisome Biogenesis Disorder 5a 31 0.064
99
ACR016 Acromesomelic Dysplasia 30 0.064
100
P RHM011 Rheumatoid Arthritis 87 0.052
101
P ART022 Arthritis 72 0.052
102
SMT004 Smith-Lemli-Opitz Syndrome 69 0.052
103
P OST005 Osteogenesis Imperfecta 68 0.052
104
P TRN020 Turner Syndrome 65 0.052
105
CNN005 Connective Tissue Disease 61 0.052
106
MXD005 Mixed Connective Tissue Disease 61 0.052
107
P PNC044 Pancreatitis 60 0.052
108
MCR013 Microphthalmia 59 0.052
109
P INT063 Intellectual Disability 58 0.052
110
P SCL018 Scoliosis 56 0.052
111
NTH001 Netherton Syndrome 55 0.052
112
MLT135 Multiple Sulfatase Deficiency 54 0.052
113
ALP008 Alopecia 54 0.052
114
KNS001 Kniest Dysplasia 53 0.052
115
IMP002 Imperforate Anus 52 0.052
116
P FNC043 Fanconi Anemia, Complementation Group E 51 0.052
117
P PTT014 Pitt-Hopkins Syndrome 51 0.052
118
RNL078 Renal Dysplasia 50 0.052
119
P FBR025 Fibrochondrogenesis 50 0.052
120
ICH054 Ichthyosis, X-Linked 49 0.052
121
RTN023 Retinitis 49 0.052
122
RGH009 Right Atrial Isomerism 48 0.052
123
P ICH001 Ichthyosis Vulgaris 46 0.052
124
PYL017 Pyle Disease 46 0.052
125
c INF069 Infantile Neuroaxonal Dystrophy 1 45 0.052
126
STS002 Situs Inversus 45 0.052
127
c ACH033 Achondrogenesis, Type Ia 44 0.052
128
c ACH035 Achondrogenesis Ib 43 0.052
129
DYS018 Dysostosis 42 0.052
130
HYP017 Hypophosphatemia 42 0.052
131
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.052
132
NRN002 Neuronitis 39 0.052
133
PRX001 Peroxisomal Disease 37 0.052
134
GRN039 Greenberg Skeletal Dysplasia 36 0.052
135
ADP007 Adie Pupil 35 0.052
136
c DSB006 Desbuquois Dysplasia 1 33 0.052
137
CRN246 Cranioosteoarthropathy 33 0.052
138
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.052
139
SDD003 Saddan 32 0.052
140
c PRX063 Peroxisome Biogenesis Disorder 2a 30 0.052
141
c PRX065 Peroxisome Biogenesis Disorder 3a 30 0.052
142
c PRX054 Peroxisome Biogenesis Disorder 12a 27 0.052
143
c PRX055 Peroxisome Biogenesis Disorder 11a 27 0.052
144
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.052
145
c PRX091 Peroxisome Biogenesis Disorder 8a 26 0.052
146
c PRX048 Peroxisome Biogenesis Disorder 10a 25 0.052
147
c PRX046 Peroxisome Biogenesis Disorder 7a 25 0.052
148
KYP002 Kyphomelic Dysplasia 25 0.052
149
c PRX052 Peroxisome Biogenesis Disorder 13a 25 0.052
150
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.052
151
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21 0.052
152
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 18 0.052
153
MSM003 Mesomelia 15 0.052
154
P RTN008 Retinitis Pigmentosa 80 0.037
155
INS024 Insulin-Like Growth Factor I 75 0.037
156
P HMC003 Hemochromatosis 72 0.037
157
c MCL042 Macular Degeneration, Age-Related, 1 72 0.037
158
P MTC003 Metachromatic Leukodystrophy 70 0.037
159
TTR001 Tetralogy of Fallot 69 0.037
160
P MYP004 Myopathy 68 0.037
161
c HRD010 Hereditary Spastic Paraplegia 66 0.037
162
P DYS007 Dyskeratosis Congenita 66 0.037
163
P NMN002 Niemann-Pick Disease 66 0.037
164
P HYD006 Hydrocephalus 66 0.037
165
P NSP012 Nasopharyngeal Carcinoma 66 0.037
166
P MSC005 Muscular Dystrophy 65 0.037
167
SKN016 Skin Disease 64 0.037
168
P PRP003 Porphyria Cutanea Tarda 64 0.037
169
P GCH001 Gaucher's Disease 63 0.037
170
LYM017 Lyme Disease 62 0.037
171
c MCP009 Mucopolysaccharidosis Ii 62 0.037
172
PNC041 Pancreatic Ductal Adenocarcinoma 62 0.037
173
c MCP024 Mucopolysaccharidosis Type Vi 61 0.037
174
SKN019 Skin Melanoma 61 0.037
175
P DYS154 Dystonia 61 0.037
176
P CRD194 Cardiomyopathy, Familial Hypertrophic 61 0.037
177
SYS004 Systemic Mastocytosis 60 0.037
178
P ALP009 Alopecia Areata 60 0.037
179
P NRV006 Nervous System Cancer 59 0.037
180
P MRT001 Muir-Torre Syndrome 59 0.037
181
c MLG068 Malignant Glioma 59 0.037
182
P PRP029 Porphyria 59 0.037
183
LRN004 Laron Dwarfism 59 0.037
184
P LNG064 Lung Cancer Susceptibility 3 59 0.037
185
P PRT013 Portal Hypertension 58 0.037
186
CRV047 Cervical Cancer, Somatic 58 0.037
187
c MCP001 Mucopolysaccharidosis Iii 58 0.037
188
OST085 Osteosarcoma, Somatic 58 0.037
189
HYP042 Hypochondroplasia 58 0.037
190
P NTR004 Neutropenia 58 0.037
191
P NRP001 Neuropathy 57 0.037
192
EYD002 Eye Disease 57 0.037
193
DBF001 D-Bifunctional Protein Deficiency 57 0.037
194
ORL011 Oral Cancer 56 0.037
195
CNG008 Congenital Ichthyosiform Erythroderma 55 0.037
196
ORL015 Oral Squamous Cell Carcinoma 55 0.037
197
TNG009 Tongue Squamous Cell Carcinoma 54 0.037
198
c GCH015 Gaucher Disease, Type I 54 0.037
199
SDC002 Sed Congenita 54 0.037
200
CLB001 Coloboma 54 0.037
201
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.037
202
c OST080 Osteogenesis Imperfecta, Type Ii 53 0.037
203
BLD087 Bladder Cancer, Somatic 53 0.037
204
c PRX045 Peroxisome Biogenesis Disorder 1b 53 0.037
205
P EPD002 Epidermolytic Hyperkeratosis 53 0.037
206
PNM008 Pneumothorax 53 0.037
207
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53 0.037
208
P LRY019 Laryngitis 53 0.037
209
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 53 0.037
210
P EPD003 Epidermolysis Bullosa Simplex 53 0.037
211
THL018 Thalassemia Major 52 0.037
212
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.037
213
P ATX004 Ataxia 52 0.037
214
ECT006 Ectodermal Dysplasia 52 0.037
215
P MLT007 Multiple Epiphyseal Dysplasia 52 0.037
216
ISL003 Isolated Growth Hormone Deficiency 52 0.037
217
P MSC033 Muscle Disorders 52 0.037
218
EPD001 Epidermodysplasia Verruciformis 52 0.037
219
BLD131 Bladder Urothelial Carcinoma 51 0.037
220
PRP032 Porphyria Variegata 51 0.037
221
OPT037 Optic Nerve Hypoplasia 51 0.037
222
RTN018 Retinal Disease 51 0.037
223
P GND004 Gonadal Dysgenesis 51 0.037
224
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.037
225
MLL012 Miller Syndrome 50 0.037
226
P PCH015 Pachyonychia Congenita 1 50 0.037
227
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49 0.037
228
MLB001 Mulibrey Nanism 49 0.037
229
P NRD007 Neurodegeneration with Brain Iron Accumulation 49 0.037
230
P HML001 Hemolytic-Uremic Syndrome 49 0.037
231
NNT017 Neonatal Adrenoleukodystrophy 49 0.037
232
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48 0.037
233
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 48 0.037
234
PRP016 Paraplegia 48 0.037
235
INC021 Incontinentia Pigmenti 48 0.037
236
PRP021 Peripheral Nervous System Neoplasm 48 0.037
237
c PRK027 Parkinson Disease 15, Autosomal Recessive 47 0.037
238
MCL002 Macular Corneal Dystrophy 47 0.037
239
NSH001 Nasu-Hakola Disease 47 0.037
240
HYP063 Hypersplenism 47 0.037
241
PLY012 Polyhydramnios 46 0.037
242
NTR003 Natural Killer Cell Leukemia 46 0.037
243
MMB001 Membranoproliferative Glomerulonephritis 46 0.037
244
VCS001 Vici Syndrome 46 0.037
245
MSC051 Muscular Dystrophy, Rigid Spine, 1 45 0.037
246
MSM001 Meesmann Corneal Dystrophy 45 0.037
247
ALB002 Albinism 45 0.037
248
P SPN250 Spondyloepimetaphyseal Dysplasia 45 0.037
249
MLT113 Multicentric Castleman Disease 45 0.037
250
MCR037 Macroglossia 45 0.037
251
P KRT005 Keratoacanthoma 45 0.037
252
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44 0.037
253
DSC009 Discoid Lupus Erythematosus 44 0.037
254
HMS001 Hemosiderosis 44 0.037
255
c ACT078 Acute Porphyria 44 0.037
256
P SDR002 Siderosis 44 0.037
257
BRT030 Birth Defects 44 0.037
258
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 43 0.037
259
HYD012 Hydrops Fetalis 43 0.037
260
CHR008 Choroiditis 43 0.037
261
P DNT011 Dentinogenesis Imperfecta 43 0.037
262
THR024 Thrombosis 43 0.037
263
P MRD002 Marden-Walker Syndrome 43 0.037
264
P PRL003 Proliferative Glomerulonephritis 43 0.037
265
MHR001 Mohr-Tranebjaerg Syndrome 43 0.037
266
OCL001 Ocular Albinism 43 0.037
267
DPN005 Du Pan Syndrome 43 0.037
268
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42 0.037
269
CRN241 Corneal Dystrophy, Congenital Stromal 42 0.037
270
MLT018 Multiple Carboxylase Deficiency 42 0.037
271
P RPP002 Rippling Muscle Disease 42 0.037
272
c HRD026 Hereditary Ataxia 42 0.037
273
BLN001 Blount's Disease 42 0.037
274
KFR001 Kufor-Rakeb Syndrome 42 0.037
275
CNT060 Central Serous Chorioretinopathy 42 0.037
276
GRW016 Growth Hormone Deficiency, Isolated, Type Ib 41 0.037
277
ATN003 Autonomic Nervous System Neoplasm 41 0.037
278
EXS001 Exostosis 41 0.037
279
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 41 0.037
280
c NRD008 Neurodegeneration with Brain Iron Accumulation 3 40 0.037
281
SPN060 Spondylocarpotarsal Synostosis Syndrome 40 0.037
282
c HMC009 Hemochromatosis Type 2 40 0.037
283
P ACH011 Achondrogenesis 40 0.037
284
FRY002 Fryns Syndrome 40 0.037
285
CMP012 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 40 0.037
286
HYP070 Hyperpituitarism 40 0.037
287
PSD009 Pseudohermaphroditism 39 0.037
288
c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 39 0.037
289
CMP009 Complement Deficiency 39 0.037
290
CRB009 Cerebritis 39 0.037
291
BZX001 Bazex Syndrome 38 0.037
292
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38 0.037
293
TTR016 Tetra-Amelia Syndrome 38 0.037
294
SML004 Small Intestine Neuroendocrine Neoplasm 38 0.037
295
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38 0.037
296
DST004 Distal Muscular Dystrophy 38 0.037
297
P NRX001 Neuroaxonal Dystrophy 38 0.037
298
c BRC081 Brachydactyly, Type C 37 0.037
299
c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 37 0.037
300
c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37 0.037
301
SXD001 Sex Differentiation Disease 37 0.037
302
ADR038 Adermatoglyphia 37 0.037
303
KHN001 Kuhnt-Junius Degeneration 37 0.037
304
CDS002 Codas Syndrome 37 0.037
305
DNS007 Dense Deposit Disease 35 0.037
306
P ATL001 Atelosteogenesis 35 0.037
307
c OST147 Osteoarthritis 1 35 0.037
308
OPS002 Opsismodysplasia 35 0.037
309
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 35 0.037
310
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 35 0.037
311
c BRN108 Branchiootic Syndrome 1 35 0.037
312
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 34 0.037
313
SLP010 Slipped Capital Femoral Epiphysis 33 0.037
314
CSN001 Cousin Syndrome 33 0.037
315
P CRN249 Cornea Plana 33 0.037
316
MTT002 Metatropic Dysplasia 33 0.037
317
WRF003 Warfarin Syndrome 32 0.037
318
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 32 0.037
319
c EPP017 Epiphyseal Dysplasia, Multiple, 1 32 0.037
320
BWN006 Bowen's Disease 32 0.037
321
DGN003 Degeneration of Macula and Posterior Pole 31 0.037
322
MLT035 Multifocal Choroiditis 31 0.037
323
FLM001 Filamentary Keratitis 30 0.037
324
MXL016 Maxillonasal Dysplasia, Binder Type 30 0.037
325
BSL037 Basal Laminar Drusen 30 0.037
326
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 30 0.037
327
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 30 0.037
328
C3G002 C3 Glomerulopathy 29 0.037
329
RTN006 Retinal Drusen 29 0.037
330
CRN273 Corneal Dystrophy, Subepithelial Mucinous 29 0.037
331
ALG027 Al-Gazali-Bakalinova Syndrome 29 0.037
332
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.037
333
MCL054 Macular Degeneration, Age-Related, 14, Reduced Risk of 28 0.037
334
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 0.037
335
STR086 Stromal Dystrophy 27 0.037
336
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27 0.037
337
CRN274 Corneal Dystrophy, Posterior Amorphous 26 0.037
338
CRV037 Cervical Mucinous Adenocarcinoma 26 0.037
339
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 26 0.037
340
c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26 0.037
341
PRS051 Parastremmatic Dwarfism 26 0.037
342
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.037
343
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.037
344
c DSB005 Desbuquois Dysplasia 2 25 0.037
345
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 24 0.037
346
FLR007 Failure of Tooth Eruption, Primary 24 0.037
347
TRC037 Tracheobronchomalacia 23 0.037
348
c JVN024 Juvenile Hereditary Hemochromatosis 21 0.037
349
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 20 0.037
350
MSL005 Mseleni Joint Disease 20 0.037
351
OSB001 Osebold-Remondini Syndrome 19 0.037
352
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 18 0.037
353
CHT005 Chitotriosidase Deficiency 17 0.037
354
c JVN052 Juvenile-Onset Parkinson Disease 16 0.037
355
EPP010 Epiphysiolysis of the Hip 13 0.037
356
AST010 Astley-Kendall Syndrome 13 0.037
357
EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13 0.037
358
c TYP019 Type Ii Collagenopathies 12 0.037
359
EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 12 0.037
360
FTL031 Fetal Warfarin Syndrome 11 0.037
361
DPP001 Dappled Diaphyseal Dysplasia 5 0.037
362
BRC020 Brachydactylous Dwarfism Mseleni Type 4 0.037
363
MRT005 Maroteaux Stanescu Cousin Syndrome 2 0.037
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