Search results for keratoderma

552 hits were found for keratoderma

# Family MCID Name MIFTS Score
1
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 39 6.036
2
PLM102 Palmoplantar Keratoderma, Epidermolytic 41 5.876
3
KRT058 Keratoderma, Palmoplantar, with Deafness 25 5.495
4
VHW001 Vohwinkel Syndrome 43 4.980
5
c KRT055 Keratoderma, Palmoplantar, Punctate Type Ia 27 4.810
6
PLM136 Palmoplantar Keratoderma, Nonepidermolytic 34 4.767
7
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 4.384
8
P KRT056 Keratosis Palmoplantaris Striata I, Ad 22 4.320
9
PLM135 Palmoplantar Keratoderma, Bothnian Type 31 3.947
10
PLM029 Palmoplantar Keratosis 42 3.705
11
PLM137 Palmoplantar Keratoderma and Woolly Hair 35 3.705
12
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 23 3.662
13
PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 18 3.646
14
NXS001 Naxos Disease 48 3.452
15
OLM001 Olmsted Syndrome 35 3.438
16
ARR038 Arrhythmogenic Right Ventricular Dysplasia 11 26 3.393
17
P PLM078 Palmoplantar Keratoderma, Nonepidermolytic, Focal 24 3.384
18
ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 32 3.356
19
c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 21 3.356
20
KRT022 Keratoderma Palmoplantar Spastic Paralysis 8 3.356
21
P PLM140 Palmoplantar Keratoderma with Congenital Alopecia 22 3.117
22
VHW002 Vohwinkel Syndrome with Ichthyosis 33 3.100
23
PLM104 Palmoplantar Keratoderma, Nagashima Type 17 3.100
24
CLD014 Cole Disease 40 3.091
25
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 46 2.837
26
DLT011 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 19 2.796
27
DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 7 2.777
28
CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 12 2.767
29
c KRT018 Keratosis Palmoplantaris Striata Iii 17 2.732
30
HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 10 2.732
31
ACQ008 Acquired Hyperkeratosis 10 2.704
32
UNN001 Unna-Thost Palmoplantar Keratoderma 9 2.491
33
MLD003 Meleda Disease 38 2.467
34
c PNC115 Punctate Palmoplantar Keratoderma Type 2 10 2.459
35
c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 14 2.421
36
c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 19 2.410
37
MDN005 Mednik Syndrome 41 2.387
38
OLM002 Olmsted Syndrome, X-Linked 18 2.387
39
c KRT017 Keratosis Palmoplantaris Striata Ii 18 2.373
40
P PNC113 Punctate Palmoplantar Keratoderma 21 2.209
41
PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 13 2.040
42
c ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 13 2.040
43
PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 13 2.000
44
TYL002 Tylosis with Esophageal Cancer 26 1.989
45
PLM082 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 22 1.989
46
KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 14 1.989
47
SCL027 Sclerotylosis 22 1.977
48
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 13 1.977
49
KRT023 Keratoderma Palmoplantaris Transgrediens 7 1.963
50
ECT073 Ectodermal Dysplasia/short Stature Syndrome 21 1.949
51
AQG003 Aquagenic Syringeal Acrokeratoderm 7 1.912
52
STR096 Striate Palmoplantar Keratoderma 30 1.620
53
KRT062 Keratoderma with Woolly Hair 9 1.497
54
c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 18 1.477
55
FCL036 Focal Palmoplantar and Gingival Keratoderma 14 1.466
56
PPL049 Papillon-Lefevre Syndrome 49 1.443
57
SCH038 Schopf-Schulz-Passarge Syndrome 30 1.443
58
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11 1.443
59
PLM046 Palmoplantar Keratoderma of Sybert 4 1.443
60
DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8 1.429
61
BRT001 Bart-Pumphrey Syndrome 40 1.415
62
CLL040 Callosities, Hereditary Painful 14 1.415
63
HMM002 Haim-Munk Syndrome 32 1.398
64
SKN024 Skin Fragility-Woolly Hair Syndrome 21 1.398
65
KRT066 Keratosis, Focal Palmoplantar and Gingival 14 1.398
66
KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 13 1.398
67
KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 11 1.398
68
PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 5 1.398
69
PNC060 Punctate Porokeratosis 26 1.378
70
FCL040 Focal Acral Hyperkeratosis 14 1.378
71
NNP006 Nonepidermolytic Palmoplantar Hyperkeratosis 5 1.378
72
SHH004 Shaheen Syndrome 21 1.352
73
JDG001 Judge Misch Wright Syndrome 5 1.352
74
BSR001 Basaran Yilmaz Syndrome 4 1.352
75
P CRD011 Cardiomyopathy 67 0.147
76
KRT009 Keratosis 48 0.140
77
P ICH004 Ichthyosis 53 0.133
78
PLM017 Pulmonary Alveolar Microlithiasis 46 0.129
79
PTY003 Pityriasis Rubra Pilaris 46 0.099
80
P HYP087 Hypotrichosis 45 0.099
81
MLN008 Melanoma 70 0.094
82
ALP008 Alopecia 54 0.094
83
c DLT002 Dilated Cardiomyopathy 74 0.088
84
P EPD002 Epidermolytic Hyperkeratosis 53 0.088
85
SKN016 Skin Disease 64 0.083
86
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 0.083
87
P PCH015 Pachyonychia Congenita 1 50 0.083
88
HPT074 Hepatic Adenoma, Somatic 44 0.083
89
P NRP001 Neuropathy 57 0.077
90
NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32 0.077
91
HNM002 Hinman Syndrome 27 0.077
92
PSD026 Pseudoainhum 23 0.077
93
P PSR002 Psoriasis 64 0.070
94
KDS001 Kid Syndrome 57 0.070
95
P OCL013 Oculodentodigital Dysplasia 57 0.070
96
ECT006 Ectodermal Dysplasia 52 0.070
97
P WLL010 Woolly Hair Syndrome 35 0.070
98
ALR002 Al-Raqad Syndrome 29 0.070
99
ANH001 Ainhum 29 0.070
100
ICH046 Ichthyosis Histrix, Curth-Macklin Type 21 0.070
101
AND005 Androgen Insensitivity Syndrome, Mild 16 0.070
102
CYS001 Cystic Fibrosis 86 0.062
103
CNG008 Congenital Ichthyosiform Erythroderma 55 0.062
104
SNS001 Sensorineural Hearing Loss 54 0.062
105
P PRD008 Periodontitis 46 0.062
106
SPS057 Spasticity 42 0.062
107
c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 42 0.062
108
MYX004 Myxedema 34 0.062
109
CHL109 Childhood Apraxia of Speech 27 0.062
110
LKN007 Leukonychia Totalis 25 0.062
111
c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 23 0.062
112
c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 22 0.062
113
SQM006 Squamous Cell Carcinoma 69 0.054
114
P ADN016 Adenocarcinoma 69 0.054
115
DRM006 Dermatitis 63 0.054
116
DRR010 Darier Disease 59 0.054
117
SZR001 Sezary's Disease 53 0.054
118
P EPD003 Epidermolysis Bullosa Simplex 53 0.054
119
ECT078 Ectodermal Dysplasia 2, Clouston Type 47 0.054
120
c ATS013 Autosomal Recessive Congenital Ichthyosis 46 0.054
121
P ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 43 0.054
122
c PCH012 Pachyonychia Congenita 2 42 0.054
123
DRM011 Dermatophytosis 42 0.054
124
MTS001 Mutism 41 0.054
125
CRB009 Cerebritis 39 0.054
126
TTR016 Tetra-Amelia Syndrome 38 0.054
127
RTC008 Reticulate Acropigmentation of Kitamura 37 0.054
128
HYW001 Hay-Wells Syndrome 36 0.054
129
ADP007 Adie Pupil 35 0.054
130
c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 30 0.054
131
c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28 0.054
132
c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 28 0.054
133
c PCH010 Pachyonychia Congenita 3 27 0.054
134
c PCH011 Pachyonychia Congenita 4 24 0.054
135
PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 18 0.054
136
c SYS001 Systemic Lupus Erythematosus 86 0.044
137
ESP021 Esophageal Cancer 74 0.044
138
P LYM118 Lymphoma 69 0.044
139
P CHR071 Charcot-Marie-Tooth Disease 67 0.044
140
P DYS007 Dyskeratosis Congenita 66 0.044
141
P CRD013 Cardiofaciocutaneous Syndrome 65 0.044
142
P CWD001 Cowden Disease 65 0.044
143
P MCL013 Mucolipidosis Iv 64 0.044
144
P LPS004 Lupus Erythematosus 63 0.044
145
P ESP024 Esophagitis 59 0.044
146
P UVT001 Uveitis 57 0.044
147
P CTR002 Cataract 57 0.044
148
P RTH001 Rothmund-Thomson Syndrome 57 0.044
149
EPD016 Epidermolysis Bullosa 55 0.044
150
P LCH002 Lichen Planus 52 0.044
151
EPD001 Epidermodysplasia Verruciformis 52 0.044
152
KND001 Kindler Syndrome 52 0.044
153
TTH006 Tooth Disease 51 0.044
154
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 49 0.044
155
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48 0.044
156
BSC001 Buschke-Ollendorff Syndrome 48 0.044
157
EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 48 0.044
158
c TYR013 Tyrosinemia, Type Ii 47 0.044
159
P ICH001 Ichthyosis Vulgaris 46 0.044
160
MNL001 Monilethrix 46 0.044
161
ICH002 Ichthyosis Bullosa of Siemens 45 0.044
162
EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 45 0.044
163
P KRT005 Keratoacanthoma 45 0.044
164
P TYR004 Tyrosinemia 44 0.044
165
ATR060 Atrial Standstill, Digenic 43 0.044
166
EPD041 Epidermolysis Bullosa Simplex, Weber-Cockayne Type 42 0.044
167
EPD047 Epidermolysis Bullosa Simplex, Koebner Type 41 0.044
168
P WHT013 White Sponge Nevus 1 40 0.044
169
c HYP559 Hypotrichosis 8 40 0.044
170
PRL019 Prolidase Deficiency 40 0.044
171
ATS010 Autosomal Recessive Disease 39 0.044
172
BZX001 Bazex Syndrome 38 0.044
173
c PSD092 Pseudohypoaldosteronism, Type Iie 37 0.044
174
FSS001 Fissured Tongue 35 0.044
175
EPD056 Epidermolysis Bullosa Simplex-Mp 34 0.044
176
FML304 Familial Isolated Dilated Cardiomyopathy 33 0.044
177
c PLN024 Peeling Skin Syndrome 4 32 0.044
178
c EPD058 Epidermolysis Bullosa Simplex, Recessive 1 31 0.044
179
ACN010 Acanthoma 30 0.044
180
c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 28 0.044
181
ODN009 Odontoonychodermal Dysplasia 27 0.044
182
DRM021 Dermatopathia Pigmentosa Reticularis 25 0.044
183
PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 24 0.044
184
KRT014 Keratosis Follicularis Spinulosa Decalvans 24 0.044
185
KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 23 0.044
186
HYS001 Hystrix-Like Ichthyosis with Deafness 22 0.044
187
c ICH023 Ichthyosis, Acquired 20 0.044
188
EPD004 Epidermolytic Acanthoma 20 0.044
189
c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 19 0.044
190
c RTH005 Rothmund-Thomson Syndrome Type 2 19 0.044
191
c RTH004 Rothmund-Thomson Syndrome Type 1 17 0.044
192
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17 0.044
193
WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 17 0.044
194
PNH003 Pinheiro Freire-Maia Miranda Syndrome 16 0.044
195
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 16 0.044
196
PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 14 0.044
197
MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 14 0.044
198
EPD067 Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss 13 0.044
199
ODN004 Odonto Onycho Dysplasia with Alopecia 12 0.044
200
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 10 0.044
201
P LNG032 Lung Cancer 94 0.031
202
P MLT019 Multiple Myeloma 82 0.031
203
P AST005 Asthma 81 0.031
204
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.031
205
P OST012 Osteoarthritis 79 0.031
206
P HRT032 Heart Disease 75 0.031
207
GST019 Gastrointestinal Stromal Tumor 74 0.031
208
STR067 Stroke, Ischemic 72 0.031
209
P LKM002 Leukemia 72 0.031
210
P INF038 Influenza 71 0.031
211
P ESS003 Essential Thrombocythemia 70 0.031
212
TBR010 Tuberculosis 69 0.031
213
MYC006 Mycosis Fungoides 67 0.031
214
P MYS003 Myasthenia Gravis 67 0.031
215
CST001 Costello Syndrome 67 0.031
216
ACH004 Achondroplasia 66 0.031
217
P KDN018 Kidney Disease 65 0.031
218
PRP027 Peripheral Vascular Disease 65 0.031
219
P THN009 Thanatophoric Dysplasia, Type I 64 0.031
220
EWN003 Ewing Sarcoma 64 0.031
221
ALL003 Allergic Rhinitis 63 0.031
222
VSC011 Vasculitis 62 0.031
223
P ART023 Arthropathy 62 0.031
224
NRL005 Neurilemmoma 61 0.031
225
MST017 Mast Cell Disease 61 0.031
226
P EHL001 Ehlers-Danlos Syndrome 61 0.031
227
ATP002 Atopy 61 0.031
228
c ATS347 Autosomal Dominant Polycystic Kidney Disease 61 0.031
229
GTL001 Gitelman Syndrome 61 0.031
230
GNG013 Gingivitis 61 0.031
231
HYP056 Hypoglycemia 60 0.031
232
P LYM025 Lymphedema 60 0.031
233
TKY002 Takayasu Arteritis 60 0.031
234
c LCL006 Localized Scleroderma 60 0.031
235
P HYP086 Hypothyroidism 60 0.031
236
P PNC044 Pancreatitis 60 0.031
237
SYS004 Systemic Mastocytosis 60 0.031
238
P ALP009 Alopecia Areata 60 0.031
239
P ATP001 Atopic Dermatitis 60 0.031
240
ACQ007 Acquired Immunodeficiency Syndrome 60 0.031
241
DSM004 Desmoid Tumor 60 0.031
242
c PRM196 Premature Ovarian Failure 1 60 0.031
243
HYP066 Hyperglycemia 59 0.031
244
P HMN010 Hemangioma 59 0.031
245
DBT087 Diabetes Insipidus, Neurohypophyseal 59 0.031
246
P RHN004 Rhinitis 59 0.031
247
P THR015 Thrombophilia 58 0.031
248
P MCR010 Microcephaly 58 0.031
249
HYP042 Hypochondroplasia 58 0.031
250
DBT088 Diabetes Insipidus, Nephrogenic 58 0.031
251
CMP005 Campomelic Dysplasia 58 0.031
252
DRM014 Dermatofibrosarcoma Protuberans 57 0.031
253
PRP030 Purpura 57 0.031
254
P HYP060 Hyperinsulinism 57 0.031
255
P THR005 Thrombotic Thrombocytopenic Purpura 57 0.031
256
PBL001 Piebaldism 57 0.031
257
P STC001 Stickler Syndrome 56 0.031
258
P HMR003 Hemorrhagic Disease 55 0.031
259
MLG077 Malignant Peripheral Nerve Sheath Tumor 55 0.031
260
P GLM007 Glomerulonephritis 55 0.031
261
P HYP050 Hyperinsulinemic Hypoglycemia 55 0.031
262
P BRC006 Brachydactyly 55 0.031
263
P LYM033 Lymphoproliferative Syndrome 54 0.031
264
SDC002 Sed Congenita 54 0.031
265
P LPR002 Leopard Syndrome 54 0.031
266
P KBK002 Kabuki Syndrome 1 54 0.031
267
P LMY004 Leiomyosarcoma 54 0.031
268
PPL022 Papilloma 54 0.031
269
SSM001 Sesame Syndrome 54 0.031
270
P AVS004 Avascular Necrosis of the Femoral Head 54 0.031
271
P THY032 Thyroiditis 53 0.031
272
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 53 0.031
273
HLY001 Hailey-Hailey Disease 53 0.031
274
KNS001 Kniest Dysplasia 53 0.031
275
DST005 Diastrophic Dysplasia 53 0.031
276
LMY002 Leiomyoma 53 0.031
277
OST015 Osteochondrodysplasia 52 0.031
278
TTH002 Tooth Agenesis 52 0.031
279
ANG020 Angiosarcoma 52 0.031
280
P PLY014 Polycystic Kidney Disease 52 0.031
281
c PSD066 Pseudohypoparathyroidism, Type Ib 52 0.031
282
VSC006 Vascular Cancer 52 0.031
283
CLF027 Cleft Palate, Isolated 52 0.031
284
P MLT007 Multiple Epiphyseal Dysplasia 52 0.031
285
P OST009 Osteochondritis Dissecans 52 0.031
286
PSD012 Pseudoachondroplasia 52 0.031
287
P PYL005 Pyelonephritis 52 0.031
288
P DBT005 Diabetes Insipidus 52 0.031
289
P PMP005 Pemphigus Vulgaris 51 0.031
290
c TCL005 T-Cell Prolymphocytic Leukemia 51 0.031
291
LYM022 Lymphangioma 51 0.031
292
FDL002 Food Allergy 51 0.031
293
BRN004 Brain Edema 51 0.031
294
P SYP003 Syphilis 51 0.031
295
P TRT010 Teratoma 51 0.031
296
c THR082 Thrombophilia Due to Activated Protein C Resistance 51 0.031
297
RPP001 Rapp-Hodgkin Syndrome 51 0.031
298
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50 0.031
299
c THR092 Thrombophilia Due to Thrombin Defect 50 0.031
300
PLG002 Plague 50 0.031
301
P CPL006 Capillary Hemangioma 50 0.031
302
HYP005 Hypokalemia 50 0.031
303
P CLL015 Collagen Disease 50 0.031
304
PYC001 Pycnodysostosis 50 0.031
305
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 49 0.031
306
ERY017 Erythema Elevatum Diutinum 49 0.031
307
SLV012 Salivary Gland Adenoid Cystic Carcinoma 49 0.031
308
PMP001 Pemphigus 49 0.031
309
P RST002 Restrictive Cardiomyopathy 49 0.031
310
SPT005 Spotted Fever 49 0.031
311
ICH054 Ichthyosis, X-Linked 49 0.031
312
P HML001 Hemolytic-Uremic Syndrome 49 0.031
313
MGL001 Megaloblastic Anemia 49 0.031
314
c BRT034 Bartter Syndrome, Type 2 49 0.031
315
P GNT008 Giant Cell Tumor 48 0.031
316
MNR002 Meniere's Disease 48 0.031
317
PRP016 Paraplegia 48 0.031
318
END031 Endometrial Stromal Sarcoma 48 0.031
319
GRW007 Growth Hormone Deficiency 48 0.031
320
DSM007 Desmoplastic Small Round Cell Tumor 48 0.031
321
IGG001 Iga Glomerulonephritis 48 0.031
322
INN002 Inner Ear Disease 48 0.031
323
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 47 0.031
324
CHL069 Cholesteatoma 47 0.031
325
MST002 Mast-Cell Leukemia 47 0.031
326
HNT002 Hantavirus Pulmonary Syndrome 47 0.031
327
c HYP726 Hypercalcemia, Infantile, 1 47 0.031
328
P FML068 Familial Hypocalciuric Hypercalcemia 47 0.031
329
DYS073 Dysphagia 47 0.031
330
P PRK001 Porokeratosis 47 0.031
331
MTN003 Motion Sickness 47 0.031
332
RTC009 Reticulum Cell Sarcoma 47 0.031
333
P INF049 Infantile Myofibromatosis 47 0.031
334
SKL014 Skeletal Dysplasia 46 0.031
335
PLY012 Polyhydramnios 46 0.031
336
XNT003 Xanthomatosis 46 0.031
337
CHR105 Choreoacanthocytosis 46 0.031
338
P BRT004 Bartter Disease 46 0.031
339
INF058 Inflammatory Myofibroblastic Tumor 46 0.031
340
ESN011 Eisenmenger Syndrome 46 0.031
341
RDT013 Radiation Proctitis 46 0.031
342
CHR563 Chronic Eosinophilic Leukemia 46 0.031
343
PRL017 Prolymphocytic Leukemia 46 0.031
344
PYL017 Pyle Disease 46 0.031
345
CLD007 Cold Agglutinin Disease 46 0.031
346
P PSD015 Pseudohypoparathyroidism 46 0.031
347
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 0.031
348
ANG018 Angiomyolipoma 45 0.031
349
CVR006 Cavernous Hemangioma 45 0.031
350
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.031
351
EMB007 Embryonal Sarcoma 45 0.031
352
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 45 0.031
353
P EPT020 Epithelioid Hemangioendothelioma 45 0.031
354
CRD118 Cardiovascular Cancer 45 0.031
355
P SPN250 Spondyloepimetaphyseal Dysplasia 45 0.031
356
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 45 0.031
357
MCR037 Macroglossia 45 0.031
358
DWR001 Dwarfism 45 0.031
359
CRT017 Cartilage Disease 45 0.031
360
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.031
361
DSC009 Discoid Lupus Erythematosus 44 0.031
362
FSC004 Fasciitis 44 0.031
363
P OTS002 Otospondylomegaepiphyseal Dysplasia 44 0.031
364
SKL017 Skeletal Dysplasias 44 0.031
365
HYP691 Hypomelanosis of Ito 44 0.031
366
c ACH033 Achondrogenesis, Type Ia 44 0.031
367
DBT008 Diabetic Angiopathy 44 0.031
368
P PRM001 Primary Cutaneous Amyloidosis 44 0.031
369
UTR043 Uterine Sarcoma 43 0.031
370
CLR065 Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 43 0.031
371
c ACH035 Achondrogenesis Ib 43 0.031
372
IRR003 Irritant Dermatitis 43 0.031
373
VST004 Vestibular Disease 43 0.031
374
SPN035 Spindle Cell Sarcoma 43 0.031
375
GLS007 Glossitis 43 0.031
376
P PRM018 Primary Hypertrophic Osteoarthropathy 43 0.031
377
CRN024 Corneal Disease 43 0.031
378
P BLD051 Blood Coagulation Disease 43 0.031
379
LNG011 Lung Adenoid Cystic Carcinoma 43 0.031
380
DDF001 Dedifferentiated Liposarcoma 43 0.031
381
FBR019 Fibromatosis 43 0.031
382
HYP319 Hypereosinophilic Syndrome, Idiopathic, Resistant to Imatinib 43 0.031
383
CRN055 Carney Triad 42 0.031
384
P SPN061 Spondyloepiphyseal Dysplasia Tarda 42 0.031
385
PLM019 Pleomorphic Liposarcoma 42 0.031
386
ACR014 Acral Lentiginous Melanoma 42 0.031
387
ANH002 Anhidrosis 42 0.031
388
PKL001 Poikiloderma with Neutropenia 42 0.031
389
STT007 Steatocystoma Multiplex 42 0.031
390
KPS002 Kaposiform Hemangioendothelioma 42 0.031
391
BLN001 Blount's Disease 42 0.031
392
PRP036 Peripheral T-Cell Lymphoma 42 0.031
393
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42 0.031
394
SYN031 Synovial Chondromatosis 42 0.031
395
END072 Endotheliitis 41 0.031
396
c NNS007 Nonsyndromic Deafness 41 0.031
397
EVN001 Evans' Syndrome 41 0.031
398
PRD003 Periodontosis 41 0.031
399
SYR002 Syringocystadenoma Papilliferum 41 0.031
400
BMR001 Boomerang Dysplasia 41 0.031
401
CTN004 Cutaneous Fibrous Histiocytoma 41 0.031
402
ADT003 Auditory System Disease 41 0.031
403
FBR054 Fibroma 41 0.031
404
TNG004 Tongue Disease 41 0.031
405
ARR026 Arrhythmogenic Right Ventricular Dysplasia 1 41 0.031
406
FBR003 Fibrous Histiocytoma 41 0.031
407
CRV033 Cervical Adenosquamous Carcinoma 41 0.031
408
GLM008 Glomus Tumor 41 0.031
409
ATS008 Autosomal Dominant Disease 40 0.031
410
c DFN097 Deafness, Autosomal Recessive 1a 40 0.031
411
FBR002 Fibrosarcoma of Bone 40 0.031
412
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 40 0.031
413
SPN032 Spindle Cell Carcinoma 40 0.031
414
P ACH011 Achondrogenesis 40 0.031
415
P HMN036 Hemangiopericytoma, Malignant 40 0.031
416
ARR035 Arrhythmogenic Right Ventricular Dysplasia 9 40 0.031
417
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 39 0.031
418
c SCN006 Secondary Syphilis 39 0.031
419
PRV003 Perivascular Epithelioid Cell Tumor 39 0.031
420
SRC002 Sarcomatoid Renal Cell Carcinoma 39 0.031
421
BND014 Bone Development Disease 39 0.031
422
JVN033 Juvenile Nasopharyngeal Angiofibroma 39 0.031
423
HMN016 Hemangioendothelioma 38 0.031
424
PLM068 Pulmonary Vein Stenosis 38 0.031
425
TTH008 Tooth Resorption 38 0.031
426
c DFN190 Deafness, Autosomal Dominant 2a 38 0.031
427
CNT025 Central Pontine Myelinolysis 38 0.031
428
HRT010 Heart Sarcoma 38 0.031
429
INT303 Intracranial Hypertension, Idiopathic 38 0.031
430
LKP003 Leukoplakia 38 0.031
431
NNL001 Non-Langerhans-Cell Histiocytosis 38 0.031
432
ARR029 Arrhythmogenic Right Ventricular Dysplasia 8 38 0.031
433
PLY040 Polymorphous Low-Grade Adenocarcinoma 37 0.031
434
TTH001 Tooth Ankylosis 37 0.031
435
CTN012 Cutaneous Leiomyosarcoma 37 0.031
436
ADN020 Adenosarcoma 37 0.031
437
TNP001 Tinea Pedis 37 0.031
438
P BRN120 Bronchus Cancer 37 0.031
439
CHN053 Chondromyxoid Fibroma 37 0.031
440
SMT002 Smooth Muscle Tumor 37 0.031
441
ADR038 Adermatoglyphia 37 0.031
442
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 37 0.031
443
MLG098 Malignant Mixed Mullerian Tumor 37 0.031
444
DLY008 Delayed Sleep Phase Disorder 37 0.031
445
P AXN001 Axonal Neuropathy 36 0.031
446
IMP003 Impaired Renal Function Disease 36 0.031
447
GRN007 Granuloma Annulare 36 0.031
448
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 36 0.031
449
HYP022 Hypohidrosis 36 0.031
450
c DFN143 Deafness, Autosomal Recessive 16 36 0.031
451
HYP041 Hypochondrogenesis 35 0.031
452
P 8P1002 8p11 Myeloproliferative Syndrome 35 0.031
453
GRV012 Grover's Disease 35 0.031
454
P ATL001 Atelosteogenesis 35 0.031
455
PHY007 Phyllode Tumor 35 0.031
456
P DSB002 Desbuquois Dysplasia 35 0.031
457
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 35 0.031
458
GST036 Gastric Leiomyosarcoma 35 0.031
459
EXT052 Extraskeletal Ewing Sarcoma 35 0.031
460
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 35 0.031
461
RNL021 Renal Tubular Transport Disease 35 0.031
462
CHN004 Chondroblastoma 35 0.031
463
P ADT004 Auditory Neuropathy 35 0.031
464
c BRN108 Branchiootic Syndrome 1 35 0.031
465
MSN004 Mesenchymal Cell Neoplasm 35 0.031
466
IMN002 Iminoglycinuria, Digenic 35 0.031
467
MYX013 Myxofibrosarcoma 34 0.031
468
SPN006 Spindle Cell Lipoma 34 0.031
469
TNC003 Tinea Corporis 34 0.031
470
c DFN103 Deafness, Autosomal Recessive 1b 34 0.031
471
END013 Endometrial Small Cell Carcinoma 34 0.031
472
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34 0.031
473
INP001 Inappropriate Adh Syndrome 34 0.031
474
c CNG023 Congenital Fibrosarcoma 34 0.031
475
SQM018 Squamous Cell Carcinoma of the Oral Tongue 34 0.031
476
EPT011 Epithelioid Leiomyosarcoma 33 0.031
477
CNG069 Congenital Cytomegalovirus 33 0.031
478
NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 33 0.031
479
NCR003 Necrotizing Sialometaplasia 33 0.031
480
DFF037 Diffuse Intrinsic Pontine Glioma 33 0.031
481
P CYS007 Cystic Nephroma 33 0.031
482
BLN010 Balanitis 33 0.031
483
DYS030 Dysferlinopathy 33 0.031
484
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 33 0.031
485
ANG017 Angiolipoma 33 0.031
486
c CNG439 Congenital Lymphedema 32 0.031
487
SNL003 Senile Angioma 32 0.031
488
BWN006 Bowen's Disease 32 0.031
489
GLL021 Gallbladder Sarcoma 32 0.031
490
CLN006 Colonic Pseudo-Obstruction 31 0.031
491
MLG007 Malignant Skin Fibrous Histiocytoma 31 0.031
492
HYP021 Hypercementosis 31 0.031
493
CNV003 Conventional Fibrosarcoma 31 0.031
494
BNG041 Benign Metastasizing Leiomyoma 31 0.031
495
MVD010 Moved to 184840 31 0.031
496
c DFN151 Deafness, Autosomal Dominant 24 31 0.031
497
FLM001 Filamentary Keratitis 30 0.031
498
PSD016 Pseudosarcomatous Fibromatosis 30 0.031
499
CLR005 Clear Cell Chondrosarcoma 30 0.031
500
HNS001 Hansen's Disease 29 0.031
501
c OST112 Osteoarthritis-5 29 0.031
502
ISC003 Ischemic Fasciitis 29 0.031
503
c PSR019 Psoriasis Susceptibility 13 29 0.031
504
XNT001 Xanthogranulomatous Pyelonephritis 29 0.031
505
OVR097 Ovarian Fibrothecoma 28 0.031
506
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 28 0.031
507
c FNC059 Fanconi-Like Syndrome 28 0.031
508
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.031
509
MDN008 Median Arcuate Ligament Syndrome 28 0.031
510
JXT001 Juxtacortical Chondroma 27 0.031
511
NNS014 Nonsyndromic Hearing Loss and Deafness 27 0.031
512
P BRC003 Brachyolmia 27 0.031
513
DFN038 Dfnb1 27 0.031
514
OSS002 Ossifying Fibromyxoid Tumor 27 0.031
515
PRC011 Parachordoma 27 0.031
516
ARR037 Arrhythmogenic Right Ventricular Dysplasia 12 27 0.031
517
PRP013 Paraphimosis 27 0.031
518
ECC008 Eccrine Sweat Gland Neoplasm 26 0.031
519
MDN001 Median Rhomboid Glossitis 26 0.031
520
SMH001 Sm-Ahnmd 26 0.031
521
THY042 Thymic Epithelial Tumor 25 0.031
522
P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 25 0.031
523
INF028 Infundibulocystic Basal Cell Carcinoma 25 0.031
524
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 0.031
525
c LRG002 Large Cell Acanthoma 24 0.031
526
c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 24 0.031
527
PSR005 Psoriasis, Protection Against 24 0.031
528
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 23 0.031
529
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 0.031
530
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 0.031
531
GRW032 Growth Factors, Combined Defect of 23 0.031
532
INF057 Inflammatory Linear Verrucous Epidermal Nevus 23 0.031
533
c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22 0.031
534
HYP213 Hypomelanotic Disorder 21 0.031
535
c JVN024 Juvenile Hereditary Hemochromatosis 21 0.031
536
UNL013 Unilateral Absence of a Pulmonary Artery 20 0.031
537
FBR091 Fibroblastic Rheumatism 20 0.031
538
BSN001 Basan Syndrome 20 0.031
539
RTC007 Reticular Perineurioma 20 0.031
540
FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 20 0.031
541
c FML048 Familial Avascular Necrosis of the Femoral Head 19 0.031
542
CRN070 Corneodermatoosseous Syndrome 19 0.031
543
CRN007 Corneal Staphyloma 18 0.031
544
c FMR009 Fmr1-Related Primary Ovarian Insufficiency 18 0.031
545
LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 17 0.031
546
BRN060 Burnett Schwartz Berberian Syndrome 16 0.031
547
HNH001 Hanhart Syndrome 14 0.031
548
c ICH014 Ichthyosis Lamellar 1 13 0.031
549
HRD178 Hereditary Papulotranslucent Acrokeratoderma 12 0.031
550
ZLT002 Zlotogora Syndrome 11 0.031
551
FXP001 Foxp2-Related Speech and Language Disorders 10 0.031
552
c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 9 0.031
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