Search results for "keratoderma"

The MalaCard for "keratoderma" has been retired.
Searching MalaCards for entries containing "keratoderma"

423 hits were found for 'keratoderma'

# Family MCID Name MIFTS Score
1
PLM102 Palmoplantar Keratoderma, Epidermolytic 47 5.928
2
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 36 5.725
3
KRT058 Keratoderma, Palmoplantar, with Deafness 24 5.517
4
VHW001 Vohwinkel Syndrome 41 4.982
5
c KRT055 Keratoderma, Palmoplantar, Punctate Type Ia 26 4.840
6
PLM136 Palmoplantar Keratoderma, Nonepidermolytic 39 4.785
7
c KRT056 Keratosis Palmoplantaris Striata I, Ad 20 4.547
8
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 39 4.397
9
PLM135 Palmoplantar Keratoderma, Bothnian Type 30 3.967
10
PLM029 Palmoplantar Keratosis 43 3.732
11
PLM137 Palmoplantar Keratoderma and Woolly Hair 34 3.692
12
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 21 3.675
13
PLM131 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse 16 3.646
14
ERY046 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper Ige 36 3.636
15
OLM001 Olmsted Syndrome 32 3.456
16
NXS001 Naxos Disease 46 3.448
17
P PLM078 Palmoplantar Keratoderma, Nonepidermolytic, Focal 24 3.413
18
P PLM140 Palmoplantar Keratoderma with Congenital Alopecia 21 3.404
19
ARR038 Arrhythmogenic Right Ventricular Dysplasia 11 25 3.373
20
c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 19 3.362
21
KRT022 Keratoderma Palmoplantar Spastic Paralysis 7 3.362
22
PLM104 Palmoplantar Keratoderma, Nagashima Type 16 3.129
23
CLD014 Cole Disease 37 3.098
24
VHW002 Vohwinkel Syndrome with Ichthyosis 30 3.087
25
ERY021 Erythrokeratodermia Variabilis Et Progressiva 47 2.861
26
DFF023 Diffuse Palmoplantar Keratoderma, Bothnian Type 7 2.794
27
DLT011 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 17 2.783
28
MDN005 Mednik Syndrome 39 2.771
29
CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 11 2.771
30
c KRT018 Keratosis Palmoplantaris Striata Iii 18 2.745
31
HYP499 Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome 10 2.745
32
ACQ008 Acquired Hyperkeratosis 10 2.713
33
UNN001 Unna-Thost Palmoplantar Keratoderma 9 2.517
34
c PNC115 Punctate Palmoplantar Keratoderma Type 2 9 2.471
35
MLD003 Meleda Disease 36 2.460
36
c PLM142 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 14 2.438
37
c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 18 2.426
38
OLM002 Olmsted Syndrome, X-Linked 16 2.400
39
c KRT017 Keratosis Palmoplantaris Striata Ii 19 2.385
40
P PNC113 Punctate Palmoplantar Keratoderma 21 2.238
41
c ATS068 Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia 11 2.051
42
PLM113 Palmoplantar Keratoderma-Sclerodactyly Syndrome 9 2.051
43
HRZ001 Huriez Syndrome 30 2.004
44
TYL002 Tylosis with Esophageal Cancer 25 2.004
45
PLM154 Palmoplantar Keratoderma, Norrbotten Recessive Type 11 2.004
46
KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 13 1.991
47
PLM082 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 18 1.976
48
LKN004 Leukoencephalopathy Palmoplantar Keratoderma 10 1.976
49
KRT023 Keratoderma Palmoplantaris Transgrediens 6 1.959
50
ECT073 Ectodermal Dysplasia/short Stature Syndrome 19 1.941
51
AQG003 Aquagenic Syringeal Acrokeratoderm 7 1.919
52
KRT062 Keratoderma with Woolly Hair 9 1.518
53
c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 14 1.496
54
FCL036 Focal Palmoplantar and Gingival Keratoderma 10 1.471
55
PLM046 Palmoplantar Keratoderma of Sybert 4 1.458
56
PPL049 Papillon-Lefevre Syndrome 48 1.443
57
SCH038 Schopf-Schulz-Passarge Syndrome 27 1.443
58
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 11 1.443
59
DFF032 Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome 8 1.443
60
BRT001 Bart-Pumphrey Syndrome 40 1.426
61
CLL040 Callosities, Hereditary Painful 13 1.426
62
P KRT059 Keratosis Palmoplantaris Striata 27 1.408
63
SKN024 Skin Fragility-Woolly Hair Syndrome 19 1.408
64
KRT066 Keratosis, Focal Palmoplantar and Gingival 13 1.408
65
KRT068 Keratosis Palmaris Et Plantaris with Clinodactyly 11 1.408
66
PGM025 Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 5 1.408
67
HMM002 Haim-Munk Syndrome 30 1.386
68
PNC060 Punctate Porokeratosis 25 1.386
69
FCL040 Focal Acral Hyperkeratosis 14 1.386
70
KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 8 1.386
71
NNP006 Nonepidermolytic Palmoplantar Hyperkeratosis 6 1.386
72
SHH004 Shaheen Syndrome 20 1.357
73
JDG001 Judge Misch Wright Syndrome 5 1.357
74
BSR001 Basaran Yilmaz Syndrome 5 1.357
75
P CRD011 Cardiomyopathy 68 0.156
76
KRT009 Keratosis 52 0.144
77
PLM017 Pulmonary Alveolar Microlithiasis 46 0.139
78
P ICH004 Ichthyosis 52 0.130
79
ALP008 Alopecia 57 0.105
80
PTY003 Pityriasis Rubra Pilaris 46 0.105
81
P EPD002 Epidermolytic Hyperkeratosis 50 0.099
82
P HYP087 Hypotrichosis 46 0.099
83
c DLT002 Dilated Cardiomyopathy 76 0.092
84
MLN008 Melanoma 62 0.092
85
SKN016 Skin Disease 66 0.085
86
P NRP001 Neuropathy 59 0.085
87
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 0.085
88
P PCH015 Pachyonychia Congenita 1 49 0.085
89
PSD026 Pseudoainhum 24 0.085
90
KDS001 Kid Syndrome 53 0.078
91
ECT006 Ectodermal Dysplasia 52 0.078
92
HPT074 Hepatic Adenoma, Somatic 50 0.078
93
NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 31 0.078
94
HNM002 Hinman Syndrome 25 0.078
95
CYS001 Cystic Fibrosis 83 0.070
96
P PSR002 Psoriasis 61 0.070
97
CNG008 Congenital Ichthyosiform Erythroderma 56 0.070
98
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.070
99
SPS057 Spasticity 42 0.070
100
ALR002 Al-Raqad Syndrome 36 0.070
101
MYX004 Myxedema 35 0.070
102
c PCH010 Pachyonychia Congenita 3 25 0.070
103
LKN007 Leukonychia Totalis 22 0.070
104
c PCH011 Pachyonychia Congenita 4 22 0.070
105
AND005 Androgen Insensitivity Syndrome, Mild 16 0.070
106
P OVR042 Ovarian Cancer 76 0.060
107
SQM006 Squamous Cell Carcinoma 70 0.060
108
P ADN016 Adenocarcinoma 69 0.060
109
DRM006 Dermatitis 66 0.060
110
P CWD001 Cowden Disease 64 0.060
111
P PRD008 Periodontitis 63 0.060
112
P ESP024 Esophagitis 61 0.060
113
P OCL013 Oculodentodigital Dysplasia 59 0.060
114
SNS001 Sensorineural Hearing Loss 57 0.060
115
P EPD003 Epidermolysis Bullosa Simplex 53 0.060
116
SZR001 Sezary's Disease 52 0.060
117
DRM011 Dermatophytosis 46 0.060
118
ECT078 Ectodermal Dysplasia 2, Clouston Type 45 0.060
119
c ATS013 Autosomal Recessive Congenital Ichthyosis 45 0.060
120
MTS001 Mutism 43 0.060
121
CRB009 Cerebritis 39 0.060
122
c PCH012 Pachyonychia Congenita 2 39 0.060
123
ANH001 Ainhum 30 0.060
124
c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 22 0.060
125
ICH046 Ichthyosis Histrix, Curth-Macklin Type 20 0.060
126
c SYS001 Systemic Lupus Erythematosus 86 0.049
127
ESP021 Esophageal Cancer 76 0.049
128
P LYM118 Lymphoma 69 0.049
129
P CHR071 Charcot-Marie-Tooth Disease 67 0.049
130
P LPS004 Lupus Erythematosus 64 0.049
131
P DYS007 Dyskeratosis Congenita 63 0.049
132
P CRD013 Cardiofaciocutaneous Syndrome 63 0.049
133
P MCL013 Mucolipidosis Iv 62 0.049
134
DRR010 Darier Disease 60 0.049
135
P CTR002 Cataract 58 0.049
136
P UVT001 Uveitis 58 0.049
137
KND001 Kindler Syndrome 57 0.049
138
EPD016 Epidermolysis Bullosa 57 0.049
139
P RTH001 Rothmund-Thomson Syndrome 55 0.049
140
PPL022 Papilloma 55 0.049
141
TTH006 Tooth Disease 52 0.049
142
ATR060 Atrial Standstill, Digenic 51 0.049
143
BSC001 Buschke-Ollendorff Syndrome 50 0.049
144
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 48 0.049
145
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.049
146
c TYR013 Tyrosinemia, Type Ii 46 0.049
147
P PRK001 Porokeratosis 45 0.049
148
P TYR004 Tyrosinemia 45 0.049
149
EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 45 0.049
150
EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 44 0.049
151
c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 43 0.049
152
EPD047 Epidermolysis Bullosa Simplex, Koebner Type 42 0.049
153
P ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42 0.049
154
EPD041 Epidermolysis Bullosa Simplex, Weber-Cockayne Type 41 0.049
155
PRL019 Prolidase Deficiency 38 0.049
156
EPD065 Epidermolytic Ichthyosis 37 0.049
157
TTR016 Tetra-Amelia Syndrome 36 0.049
158
BZX001 Bazex Syndrome 35 0.049
159
ADP007 Adie Pupil 34 0.049
160
RTC008 Reticulate Acropigmentation of Kitamura 34 0.049
161
EPD056 Epidermolysis Bullosa Simplex-Mp 34 0.049
162
P WLL010 Woolly Hair Syndrome 34 0.049
163
HYW001 Hay-Wells Syndrome 32 0.049
164
FML304 Familial Isolated Dilated Cardiomyopathy 31 0.049
165
c EPD058 Epidermolysis Bullosa Simplex, Recessive 1 30 0.049
166
c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29 0.049
167
c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26 0.049
168
KRT014 Keratosis Follicularis Spinulosa Decalvans 25 0.049
169
c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 25 0.049
170
c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 20 0.049
171
c ICH023 Ichthyosis, Acquired 19 0.049
172
PLN020 Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads 16 0.049
173
c RTH005 Rothmund-Thomson Syndrome Type 2 15 0.049
174
WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 15 0.049
175
c RTH004 Rothmund-Thomson Syndrome Type 1 14 0.049
176
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.049
177
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 14 0.049
178
PRK076 Porokeratosis 2, Palmar, Plantar, and Disseminated Type 13 0.049
179
MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 13 0.049
180
PNH003 Pinheiro Freire-Maia Miranda Syndrome 12 0.049
181
ODN004 Odonto Onycho Dysplasia with Alopecia 10 0.049
182
SPR107 Sparse Hair-Short Stature-Skin Anomalies Syndrome 8 0.049
183
P BRS047 Breast Cancer 100 0.035
184
P LNG032 Lung Cancer 95 0.035
185
P MLT019 Multiple Myeloma 83 0.035
186
P AST005 Asthma 82 0.035
187
P HRT032 Heart Disease 75 0.035
188
P INF038 Influenza 72 0.035
189
P LKM002 Leukemia 71 0.035
190
TBR010 Tuberculosis 70 0.035
191
CST001 Costello Syndrome 68 0.035
192
P MYS003 Myasthenia Gravis 67 0.035
193
P KDN018 Kidney Disease 66 0.035
194
MYC006 Mycosis Fungoides 66 0.035
195
ATP002 Atopy 66 0.035
196
P ART023 Arthropathy 64 0.035
197
P RBN001 Rubinstein-Taybi Syndrome 64 0.035
198
P PRP003 Porphyria Cutanea Tarda 64 0.035
199
P HYP086 Hypothyroidism 64 0.035
200
ALL003 Allergic Rhinitis 63 0.035
201
P EHL001 Ehlers-Danlos Syndrome 63 0.035
202
c ATS347 Autosomal Dominant Polycystic Kidney Disease 63 0.035
203
P ATP001 Atopic Dermatitis 62 0.035
204
SKN019 Skin Melanoma 62 0.035
205
P ALP009 Alopecia Areata 62 0.035
206
GNG013 Gingivitis 61 0.035
207
P LYM025 Lymphedema 61 0.035
208
P RCK004 Rickets 61 0.035
209
P PNC044 Pancreatitis 61 0.035
210
c LCL006 Localized Scleroderma 61 0.035
211
P NPH009 Nephrolithiasis 60 0.035
212
ACQ007 Acquired Immunodeficiency Syndrome 60 0.035
213
P UVL004 Uveal Melanoma 60 0.035
214
P RHN004 Rhinitis 60 0.035
215
P GLM007 Glomerulonephritis 59 0.035
216
P PRP029 Porphyria 59 0.035
217
P MCR010 Microcephaly 58 0.035
218
TNG003 Tongue Cancer 58 0.035
219
ING001 Inguinal Hernia 58 0.035
220
P HYP613 Hypophosphatemic Rickets 57 0.035
221
P LYM033 Lymphoproliferative Syndrome 56 0.035
222
TTH002 Tooth Agenesis 54 0.035
223
P THY032 Thyroiditis 54 0.035
224
PRP083 Porphyria, Acute Intermittent 54 0.035
225
NWC001 Newcastle Disease 54 0.035
226
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 54 0.035
227
CPR001 Coproporphyria 53 0.035
228
FDL002 Food Allergy 53 0.035
229
P LCH002 Lichen Planus 53 0.035
230
P PLY014 Polycystic Kidney Disease 53 0.035
231
P SYP003 Syphilis 53 0.035
232
NRF007 Neurofibroma 53 0.035
233
HYP609 Hypophosphatemic Rickets, X-Linked Dominant 52 0.035
234
c TCL005 T-Cell Prolymphocytic Leukemia 52 0.035
235
P PYL005 Pyelonephritis 52 0.035
236
OPT037 Optic Nerve Hypoplasia 52 0.035
237
HNT002 Hantavirus Pulmonary Syndrome 51 0.035
238
ACT008 Actinic Keratosis 51 0.035
239
GRW007 Growth Hormone Deficiency 50 0.035
240
EPD001 Epidermodysplasia Verruciformis 50 0.035
241
P PRS049 Persistent Mullerian Duct Syndrome 50 0.035
242
PRP032 Porphyria Variegata 50 0.035
243
OVR078 Ovarian Cancer, Somatic 50 0.035
244
MGL001 Megaloblastic Anemia 50 0.035
245
HYP006 Hypertensive Heart Disease 50 0.035
246
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.035
247
PRP016 Paraplegia 49 0.035
248
c SCN036 Secondary Progressive Multiple Sclerosis 49 0.035
249
P TRN034 Transverse Myelitis 49 0.035
250
CHL069 Cholesteatoma 49 0.035
251
P LSS002 Lissencephaly 49 0.035
252
INN002 Inner Ear Disease 49 0.035
253
CRB045 Cerebellar Hypoplasia 48 0.035
254
RPP001 Rapp-Hodgkin Syndrome 48 0.035
255
ANM029 Anemia, Sideroblastic, X-Linked 48 0.035
256
IGG001 Iga Glomerulonephritis 48 0.035
257
DYS073 Dysphagia 48 0.035
258
PRT103 Protoporphyria, Erythropoietic, Autosomal Recessive 48 0.035
259
P TRC086 Trichohepatoenteric Syndrome 1 48 0.035
260
PRL017 Prolymphocytic Leukemia 47 0.035
261
c CLR017 Clear Cell Sarcoma 46 0.035
262
FND002 Fundus Dystrophy 46 0.035
263
PRP082 Porphyria, Congenital Erythropoietic 46 0.035
264
c ACT078 Acute Porphyria 46 0.035
265
SRS007 Sorsby Fundus Dystrophy 46 0.035
266
ADR038 Adermatoglyphia 46 0.035
267
P HTR015 Heterotopia, Periventricular 46 0.035
268
P PRM108 Primary Progressive Multiple Sclerosis 46 0.035
269
XNT003 Xanthomatosis 46 0.035
270
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 46 0.035
271
ADN027 Adenomyosis 46 0.035
272
CLR065 Colorectal Adenomatous Polyposis, Autosomal Recessive, with Pilomatricomas 45 0.035
273
P CRN028 Corneal Ulcer 45 0.035
274
ICH002 Ichthyosis Bullosa of Siemens 45 0.035
275
PRP036 Peripheral T-Cell Lymphoma 45 0.035
276
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.035
277
CHR105 Choreoacanthocytosis 44 0.035
278
LGH004 Light Chain Deposition Disease 44 0.035
279
CRN024 Corneal Disease 44 0.035
280
EVN001 Evans' Syndrome 43 0.035
281
LNG017 Lung Giant Cell Carcinoma 43 0.035
282
HYP017 Hypophosphatemia 43 0.035
283
FBR003 Fibrous Histiocytoma 43 0.035
284
c ACT159 Acute Transverse Myelitis 42 0.035
285
PRT026 Parotitis 42 0.035
286
c NNS007 Nonsyndromic Deafness 42 0.035
287
END072 Endotheliitis 42 0.035
288
NRN016 Neuronal Migration Disorders 42 0.035
289
KLT001 Klatskin's Tumor 42 0.035
290
HYP691 Hypomelanosis of Ito 42 0.035
291
FCL041 Focal Myositis 42 0.035
292
MNN001 Meningeal Melanocytoma 42 0.035
293
P PRM018 Primary Hypertrophic Osteoarthropathy 42 0.035
294
PRD003 Periodontosis 41 0.035
295
ANH002 Anhidrosis 41 0.035
296
c SCN006 Secondary Syphilis 41 0.035
297
ATS010 Autosomal Recessive Disease 41 0.035
298
P LSS027 Lissencephaly, X-Linked 41 0.035
299
OVR060 Ovary Epithelial Cancer 40 0.035
300
c DFN097 Deafness, Autosomal Recessive 1a 40 0.035
301
P XLN110 X-Linked Charcot-Marie-Tooth Disease 40 0.035
302
ADT003 Auditory System Disease 40 0.035
303
PSD009 Pseudohermaphroditism 40 0.035
304
TNP001 Tinea Pedis 40 0.035
305
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 40 0.035
306
ATS008 Autosomal Dominant Disease 39 0.035
307
ISC015 Ischemic Colitis 39 0.035
308
HYP135 Hypophosphatemic Rickets with Hypercalciuria 39 0.035
309
P WHT013 White Sponge Nevus 1 39 0.035
310
PCH002 Pachygyria 39 0.035
311
LKP003 Leukoplakia 38 0.035
312
PRP017 Periapical Periodontitis 38 0.035
313
c INT059 Internal Hemorrhoid 38 0.035
314
PHS001 Phosphorus Metabolism Disease 38 0.035
315
SXD001 Sex Differentiation Disease 38 0.035
316
NSL006 Nasal Cavity Squamous Cell Carcinoma 38 0.035
317
c HYP559 Hypotrichosis 8 38 0.035
318
P AXN001 Axonal Neuropathy 38 0.035
319
c PSR017 Psoriasis 2 37 0.035
320
c CNG031 Congenital Nervous System Abnormality 37 0.035
321
MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 37 0.035
322
c DFN200 Deafness, Autosomal Dominant 17 37 0.035
323
TNS013 Tonsil Squamous Cell Carcinoma 37 0.035
324
GRN007 Granuloma Annulare 37 0.035
325
HYP022 Hypohidrosis 37 0.035
326
c DFN190 Deafness, Autosomal Dominant 2a 37 0.035
327
CNG069 Congenital Cytomegalovirus 36 0.035
328
P ADT004 Auditory Neuropathy 36 0.035
329
ECC004 Eccrine Porocarcinoma 36 0.035
330
c DFN143 Deafness, Autosomal Recessive 16 36 0.035
331
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.035
332
c DFN137 Deafness, Autosomal Dominant 13 35 0.035
333
FSS001 Fissured Tongue 35 0.035
334
LNT002 Lentigo Maligna Melanoma 35 0.035
335
P LSS024 Lissencephaly with Cerebellar Hypoplasia 34 0.035
336
SPP003 Suppurative Periapical Periodontitis 34 0.035
337
c BRN108 Branchiootic Syndrome 1 34 0.035
338
c DFN103 Deafness, Autosomal Recessive 1b 34 0.035
339
IMN002 Iminoglycinuria, Digenic 34 0.035
340
c DFN114 Deafness, Autosomal Recessive 67 34 0.035
341
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 34 0.035
342
P SBC028 Subcortical Band Heterotopia 34 0.035
343
P BND018 Band Heterotopia 34 0.035
344
c CNG439 Congenital Lymphedema 34 0.035
345
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 33 0.035
346
VLL001 Villous Adenocarcinoma 33 0.035
347
PLY050 Polymicrogyria with Optic Nerve Hypoplasia 33 0.035
348
MCR001 Microcystic Meningioma 33 0.035
349
ODN005 Odontogenic Myxoma 33 0.035
350
CLR012 Clear Cell Adenofibroma 33 0.035
351
PSR005 Psoriasis, Protection Against 32 0.035
352
HRF001 Hair Follicle Neoplasm 32 0.035
353
c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 32 0.035
354
c HRD086 Hereditary Hypophosphatemic Rickets 32 0.035
355
c PSR019 Psoriasis Susceptibility 13 32 0.035
356
FLM001 Filamentary Keratitis 32 0.035
357
HYP021 Hypercementosis 32 0.035
358
CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32 0.035
359
CLN006 Colonic Pseudo-Obstruction 31 0.035
360
ACN010 Acanthoma 31 0.035
361
c GLB007 Glioblastoma 3 31 0.035
362
ICH031 Ichthyosis with Confetti 31 0.035
363
KRT044 Keratosis Pilaris 30 0.035
364
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 30 0.035
365
c DST027 Distal Hereditary Motor Neuropathy, Type Ii 30 0.035
366
HNS001 Hansen's Disease 30 0.035
367
c DFN151 Deafness, Autosomal Dominant 24 30 0.035
368
c ATS341 Autosomal Dominant Nonsyndromic Deafness 20 30 0.035
369
CTN011 Cutaneous Porphyria 30 0.035
370
BLN010 Balanitis 29 0.035
371
c JVN024 Juvenile Hereditary Hemochromatosis 29 0.035
372
EXT051 Extracranial Arteriovenous Malformation 29 0.035
373
DFN038 Dfnb1 29 0.035
374
CNJ017 Conjunctival Nevus 29 0.035
375
XNT001 Xanthogranulomatous Pyelonephritis 28 0.035
376
PGM002 Pigmented Basal Cell Carcinoma 28 0.035
377
NNS014 Nonsyndromic Hearing Loss and Deafness 28 0.035
378
c ATS342 Autosomal Dominant Nonsyndromic Deafness 6 28 0.035
379
P MCR099 Microlissencephaly 28 0.035
380
MDN008 Median Arcuate Ligament Syndrome 28 0.035
381
ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 28 0.035
382
PSM001 Psammomatous Meningioma 28 0.035
383
ISL010 Isolated 17-Linked Lissencephaly 28 0.035
384
SPS002 Spastic Entropion 27 0.035
385
c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 27 0.035
386
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 26 0.035
387
c ICH014 Ichthyosis Lamellar 1 26 0.035
388
c DFN150 Deafness, Autosomal Dominant 21 26 0.035
389
SNL004 Senile Ectropion 25 0.035
390
ODN009 Odontoonychodermal Dysplasia 24 0.035
391
DRM021 Dermatopathia Pigmentosa Reticularis 24 0.035
392
BRC016 Brca1 and Brca2 Hereditary Breast and Ovarian Cancer 24 0.035
393
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 24 0.035
394
c DFN154 Deafness, Autosomal Dominant 31 23 0.035
395
c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 23 0.035
396
INF057 Inflammatory Linear Verrucous Epidermal Nevus 23 0.035
397
GRW032 Growth Factors, Combined Defect of 22 0.035
398
EPT001 Epithelioid Cell Melanoma 22 0.035
399
GLL012 Gallbladder Melanoma 22 0.035
400
CRN219 Corneal Intraepithelial Dyskeratosis and Ectodermal Dysplasia 22 0.035
401
c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 22 0.035
402
XLN067 X-Linked Protoporphyria 21 0.035
403
HYP213 Hypomelanotic Disorder 21 0.035
404
KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 21 0.035
405
TBL023 Tubulinopathies 20 0.035
406
HYS001 Hystrix-Like Ichthyosis with Deafness 20 0.035
407
EPD004 Epidermolytic Acanthoma 20 0.035
408
SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 20 0.035
409
EXF006 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 19 0.035
410
FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 19 0.035
411
HYP489 Hypotrichosis-Deafness Syndrome 18 0.035
412
TBL027 Tubulinopathy-Associated Dysgyria 18 0.035
413
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 17 0.035
414
DFN042 Dfna 3 Nonsyndromic Hearing Loss and Deafness 17 0.035
415
DCX001 Dcx-Related Disorders 17 0.035
416
c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 17 0.035
417
c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16 0.035
418
CRN070 Corneodermatoosseous Syndrome 16 0.035
419
HNH001 Hanhart Syndrome 15 0.035
420
DFN063 Dfnb 1 Nonsyndromic Hearing Loss and Deafness 15 0.035
421
LPD028 Lipodystrophy Due to Peptidic Growth Factors Deficiency 14 0.035
422
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 13 0.035
423
HRD178 Hereditary Papulotranslucent Acrokeratoderma 11 0.035