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

579 hits were found for 'ichthyosis'

# ++ Fam MCID Name MIFTS Score
1
XLN001 X-Linked Ichthyosis 47 5.372
2
P ICH001 Ichthyosis Vulgaris 51 5.202
3
P ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 34 4.217
4
HRL001 Harlequin Type Ichthyosis 20 4.190
5
ICH002 Ichthyosis Bullosa of Siemens 41 4.166
6
KDS001 Kid Syndrome 55 4.158
7
ICH020 Ichthyosis Prematurity Syndrome 34 3.999
8
EXF006 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 11 3.944
9
CNG008 Congenital Ichthyosiform Erythroderma 51 3.829
10
ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 14 3.825
11
P ICH023 Ichthyosis, Acquired 25 3.556
12
c ICH014 Ichthyosis Lamellar 1 13 3.465
13
ICH035 Ichthyosis, Hystrix-Like, with Deafness 13 3.423
14
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 18 3.415
15
P OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 10 3.406
16
ICH019 Ichthyosis Mental Retardation Dwarfism Renal Impairment 12 3.376
17
ICH012 Ichthyosis Hystrix Gravior 11 3.246
18
P ICH015 Ichthyosis Lamellar 2 17 3.244
19
c ICH041 Ichthyosis, Autosomal Recessive 4b 23 3.189
20
ICH021 Ichthyosis Tapered Fingers Midline Groove Up 9 3.127
21
EPD002 Epidermolytic Hyperkeratosis 62 2.892
22
CTR005 Cataract and Congenital Ichthyosis 9 2.880
23
ICH008 Ichthyosis Cheek Eyebrow Syndrome 14 2.869
24
c ICH016 Ichthyosis Lamellar 3 7 2.857
25
ICH007 Ichthyosis and Male Hypogonadism 5 2.844
26
ICH025 Ichthyosis, Follicular 19 2.721
27
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 9 2.681
28
P NTR001 Neutral Lipid Storage Disease 49 2.673
29
ICH013 Ichthyosis Hystrix, Curth Macklin Type 15 2.666
30
c VHW002 Vohwinkel Syndrome with Ichthyosis 24 2.624
31
c ICH033 Ichthyosis with Hypotrichosis 19 2.615
32
c ICH031 Ichthyosis with Confetti 11 2.605
33
ICH046 Ichthyosis Histrix, Curth-Macklin Type 14 2.594
34
c ATS013 Autosomal Recessive Congenital Ichthyosis 26 2.591
35
c NTR007 Neutral Lipid Storage Disease with Myopathy 19 2.571
36
CMP026 Camptodactyly-Ichthyosis Syndrome 1 2.571
37
DYK001 Dykes Markes Harper Syndrome 12 2.558
38
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 11 2.558
39
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 8 2.558
40
ICH036 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 15 2.543
41
c ICH022 Ichthyosis with Hypotrichosis, Autosomal Recessive 3 2.543
42
c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 31 2.521
43
ICH018 Ichthyosis Linearis Circumflexa 12 2.397
44
OPT017 Opthalmic Icthyosis 8 2.316
45
CNG247 Congenital Ichthyosis - Microcephalus - Tetraplegia 6 2.290
46
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 24 2.259
47
ICH037 Ichthyosis - Alopecia - Eclabion - Ectropion - Intellectual Deficit 10 2.247
48
RZC001 Ruzicka Goerz Anton Syndrome 4 2.203
49
ICH009 Ichthyosis Congenita Biliary Atresia 1 2.203
50
ICH017 Ichthyosis Lamellar, Autosomal Dominant 1 2.203
51
c DMN009 Dominant Ichthyosis Vulgaris 10 2.059
52
c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 6 1.906
53
CNG104 Congenital Ichthyosis, Microcephalus, Quadriplegia 2 1.906
54
c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 6 1.896
55
c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 5 1.896
56
c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 5 1.896
57
c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 5 1.896
58
c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 5 1.896
59
c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 5 1.896
60
c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 5 1.896
61
ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 3 1.874
62
FNC010 Fanconi Ichthyosis Dysmorphism 1 1.834
63
MLT101 Multiple Sclerosis - Ichthyosis - Factor Viii Deficiency 6 1.818
64
OCL021 Ocular Colobomas, Ichthyosis, Brain Malformations and Endocrine Abnormalities 4 1.818
65
INT216 Intellectual Deficit, X-Linked - Hypogonadism - Ichthyosis - Obesity - Short Stature 4 1.818
66
CRN064 Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation 0 1.818
67
GCH007 Gaucher Ichthyosis Restrictive Dermopathy 0 1.818
68
ICH051 Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 3 1.798
69
ABC002 Abca12-Related Autosomal Recessive Congenital Ichthyosis 2 1.798
70
ALX004 Alox12b-Related Autosomal Recessive Congenital Ichthyosis 2 1.798
71
ALX005 Aloxe3-Related Autosomal Recessive Congenital Ichthyosis 2 1.798
72
TGM001 Tgm1-Related Autosomal Recessive Congenital Ichthyosis 2 1.798
73
CYP003 Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis 1 1.798
74
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 1 1.798
75
NPL001 Nipal4-Related Autosomal Recessive Congenital Ichthyosis 1 1.798
76
PNP002 Pnpla1-Related Autosomal Recessive Congenital Ichthyosis 1 1.798
77
ICH024 Ichthyosis, Erythrokeratolysis Hemalis 0 1.798
78
NTH001 Netherton Syndrome 56 1.456
79
CHL079 Children's Interstitial Lung Disease 39 1.423
80
P SJG002 Sjogren-Larsson Syndrome 47 1.404
81
IRD003 Iridocorneal Endothelial Syndrome 22 1.373
82
PHT001 Photosensitive Trichothiodystrophy 39 1.297
83
c CNG199 Congenital Disorder of Glycosylation, Type Im 14 1.297
84
MDN005 Mednik Syndrome 10 1.297
85
MNG001 Mongolian Spot 43 1.272
86
KRT013 Keratolytic Winter Erythema 24 1.272
87
SJG007 Sj�gren-Larsson Syndrome 8 1.272
88
ICH005 Ichthyosiform Erythroderma, Corneal Involvement, Deafness 4 1.272
89
DLB001 Deal Barratt Dillon Syndrome 1 1.272
90
KNR001 Koone Rizzo Elias Syndrome 1 1.272
91
c SJG003 Sjogren-Larsson-Like Syndrome 1 1.272
92
SMM001 Sammartino Decreccio Syndrome 1 1.272
93
THR013 Thoracic Outlet Syndrome 53 0.271
94
HNM001 Hinman's Syndrome 28 0.265
95
KRT004 Keratitis 56 0.255
96
KRT012 Keratoderma 44 0.253
97
ATX002 Ataxia Telangiectasia 81 0.237
98
c XP2001 Xp22.3 Microdeletion Syndrome 17 0.233
99
DRM006 Dermatitis 60 0.201
100
VRR007 Verrucous Nevus 18 0.201
101
PRT015 Partial Third-Nerve Palsy 19 0.194
102
ECT005 Ectropion 39 0.186
103
ANK002 Ankylosing Spondylitis 75 0.181
104
14Q004 14q22q23 Microdeletion Syndrome 25 0.181
105
3Q2005 3q26q27 Microdeletion Syndrome 14 0.181
106
PRX070 Proximal 16p11.2 Microduplication Syndrome 11 0.181
107
KRT009 Keratosis 49 0.173
108
P THR090 Thrombocythemia 1 48 0.173
109
SCH016 Schimke Immunoosseous Dysplasia 40 0.171
110
TTR016 Tetra-Amelia Syndrome 36 0.171
111
NSY001 N Syndrome 57 0.168
112
MYC002 Mycobacterium Avium Complex Disease 56 0.168
113
PLM029 Palmoplantar Keratosis 38 0.168
114
c MNT147 Mental Retardation 51 0.162
115
IDP042 Idiopathic Recurrent Stupor 15 0.162
116
ALP008 Alopecia 59 0.159
117
SDD005 Sudden Cardiac Death Multi-Gene Panels 19 0.153
118
ACN002 Acanthosis Nigricans 70 0.150
119
HPT023 Hepatocellular Carcinoma 69 0.150
120
P ATP001 Atopic Dermatitis 64 0.150
121
WST001 West Syndrome 64 0.150
122
NNP003 Nonepidermolytic Palmoplantar Keratoderma 25 0.150
123
SPS077 Sepsis 67 0.144
124
c ACR001 Aicardi-Goutieres Syndrome 46 0.144
125
HYP080 Hypogonadism 54 0.140
126
P PND001 Pain Disorder 49 0.137
127
DST056 Distal 22q11.2 Microdeletion Syndrome 33 0.137
128
ANH001 Ainhum 27 0.137
129
IDP044 Idiopathic Pulmonary Alveolar Proteinosis 47 0.134
130
CHN015 Chondrodysplasia 46 0.130
131
AND002 Androgen Insensitivity Syndrome 75 0.126
132
SKN016 Skin Disease 64 0.126
133
c AXN002 Axenfeld-Rieger Syndrome 57 0.126
134
ATP002 Atopy 52 0.126
135
CRV045 Cervical Intraepithelial Neoplasia 47 0.126
136
c BNG076 Benign Exophthalmos Syndrome 17 0.126
137
P AMY001 Amyotrophic Lateral Sclerosis 87 0.119
138
c LCL006 Localized Scleroderma 64 0.119
139
ART001 Arterial Tortuosity Syndrome 52 0.119
140
c HYP087 Hypotrichosis 41 0.119
141
AND003 Andersen-Tawil Syndrome 39 0.119
142
ADS002 Adie Syndrome 32 0.119
143
14Q001 14q12 Microdeletion Syndrome 23 0.119
144
AND005 Androgen Insensitivity Syndrome, Mild 19 0.119
145
LCH002 Lichen Planus 61 0.115
146
P PCH002 Pachygyria 37 0.115
147
SPS004 Spastic Quadriplegia 36 0.115
148
c DST058 Distal Monosomy 12p 16 0.115
149
MNS013 Monosomy 13q34 14 0.115
150
CNN003 Conn's Syndrome 52 0.111
151
ANH002 Anhidrosis 48 0.111
152
P TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 34 0.111
153
c CHR226 Chromosome 1q41-Q42 Deletion Syndrome 23 0.111
154
MCR071 Microdeletion 15q11.2 21 0.111
155
P RSP003 Respiratory Failure 60 0.106
156
P KLL001 Kallmann Syndrome 58 0.106
157
ANK001 Ankylosis 51 0.106
158
17Q002 17q23.1q23.2 Microdeletion Syndrome 28 0.106
159
GRF006 Grfoma 20 0.106
160
10P002 10p11.21p12.31 Microdeletion Syndrome 14 0.106
161
P WSK001 Wiskott-Aldrich Syndrome 76 0.102
162
PSY004 Psychotic Disorder 62 0.102
163
HYP088 Hyper-Igd Syndrome 37 0.102
164
c ATX010 Ataxia Neuropathy Spectrum 33 0.102
165
c 2Q3005 2q31.1 Microdeletion Syndrome 22 0.102
166
17Q007 17q11 Microdeletion Syndrome 21 0.102
167
12P001 12p12.1 Microdeletion Syndrome 15 0.102
168
ECT054 Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome 12 0.102
169
P SHR002 Short Stature 64 0.097
170
P ATS061 Autosomal Recessive Hypotrichosis 32 0.097
171
TFT003 Tufting Enteropathy 26 0.097
172
c CHR245 Chromosome 3q Deletion 16 0.097
173
TWN005 Twenty-Nail Dystrophy 15 0.097
174
P ATM003 Autoimmune Thyroiditis 66 0.092
175
P DWR001 Dwarfism 59 0.092
176
c NPH012 Nephrotic Syndrome 57 0.092
177
JCB001 Jacobsen Syndrome 49 0.092
178
c CTR002 Cataract 48 0.092
179
LPD009 Lipid Storage Disease 42 0.092
180
MNN014 Mononeuritis 40 0.092
181
LPD027 Lip Disease 23 0.092
182
19Q001 19q13.11 Microdeletion Syndrome 21 0.092
183
BRN024 Bronchitis 71 0.087
184
P ANG001 Angelman Syndrome 67 0.087
185
SCN006 Secondary Syphilis 53 0.087
186
QDR001 Quadriplegia 42 0.087
187
NNS006 Non-Suppurative Otitis Media 24 0.087
188
c CHR459 Chromosome Xp Deletion 16 0.087
189
c MCR219 Microphthalmia, Isolated 8 8 0.087
190
ART019 Aortic Valve Stenosis 64 0.081
191
c EPD016 Epidermolysis Bullosa 53 0.081
192
AMN006 Aminoaciduria 41 0.081
193
17Q004 17q12 Microdeletion Syndrome 32 0.081
194
CCT001 Cicatricial Ectropion 18 0.081
195
CHN044 Chondrodysplasia Punctata Syndrome 15 0.081
196
LKM002 Leukemia 70 0.075
197
TRN018 Transitional Cell Carcinoma 61 0.075
198
c ATX004 Ataxia 56 0.075
199
LRN003 Learning Disability 54 0.075
200
P EPL002 Epilepsy Syndrome 52 0.075
201
PSR002 Psoriasis 51 0.075
202
P LCT002 Lactose Intolerance 49 0.075
203
P VHW001 Vohwinkel Syndrome 45 0.075
204
1P3001 1p36 Deletion Syndrome 44 0.075
205
HYP022 Hypohidrosis 40 0.075
206
ENT001 Enterocele 39 0.075
207
DST051 Distal 7q11.23 Microdeletion Syndrome 19 0.075
208
c TTL001 Total Internal Ophthalmoplegia 17 0.075
209
12Q001 12q15q21.1 Microdeletion Syndrome 14 0.075
210
KRT030 Krt10-Related Epidermolytic Hyperkeratosis 11 0.075
211
P UVT001 Uveitis 66 0.069
212
P PRM019 Premature Ovarian Failure 64 0.069
213
CRY002 Cryptorchidism 59 0.069
214
SNS001 Sensorineural Hearing Loss 55 0.069
215
ESN015 Eosinophilic Fasciitis 54 0.069
216
ACN011 Acne 54 0.069
217
P CHL066 Cholangitis 50 0.069
218
c SCL009 Sclerosing Cholangitis 49 0.069
219
FSC004 Fasciitis 44 0.069
220
SPS057 Spasticity 42 0.069
221
SCT002 Scotoma 41 0.069
222
PRL042 Proliferating Trichilemmal Cyst 40 0.069
223
UNL007 Unilateral Renal Agenesis 38 0.069
224
c 3Q2003 3q29 Microdeletion Syndrome 37 0.069
225
CHR020 Chronic Interstitial Cystitis 35 0.069
226
TNC003 Tinea Corporis 34 0.069
227
HNS001 Hansen's Disease 32 0.069
228
CRK001 Cork-Handlers' Disease 28 0.069
229
12Q002 12q14 Microdeletion Syndrome 28 0.069
230
2Q3003 2q32q33 Microdeletion Syndrome 25 0.069
231
c 2Q2001 2q23.1 Microdeletion Syndrome 25 0.069
232
c 4Q2001 4q21 Microdeletion Syndrome 24 0.069
233
CMB005 Combined Factor V and Viii Deficiency 23 0.069
234
10Q001 10q22.3q23.3 Microdeletion Syndrome 19 0.069
235
P OCL041 Oculomotor Apraxia Cogan Type 17 0.069
236
c CHR255 Chromosome 6p Deletion 16 0.069
237
c CHR260 Chromosome 7p Deletion 15 0.069
238
PTY007 Pityriasis Rotunda 14 0.069
239
P LPR003 Leprosy 67 0.061
240
RLP001 Relapsing Polychondritis 66 0.061
241
P RCK004 Rickets 65 0.061
242
AMN001 Amenorrhea 63 0.061
243
SQM006 Squamous Cell Carcinoma 58 0.061
244
HYP458 Hyper Ige Syndrome 54 0.061
245
c MCR010 Microcephaly 54 0.061
246
PYC001 Pycnodysostosis 52 0.061
247
LYM052 Lymphomatoid Papulosis 50 0.061
248
EPD037 Epidermal Nevus 49 0.061
249
NPH021 Nephropathic Cystinosis 47 0.061
250
CRB009 Cerebritis 46 0.061
251
HYP077 Hypertrichosis 43 0.061
252
OCL001 Ocular Albinism 41 0.061
253
PTY003 Pityriasis Rubra Pilaris 41 0.061
254
c OPT004 Optic Atrophy 41 0.061
255
CRN025 Corneal Dystrophy 40 0.061
256
P PLN008 Peeling Skin Syndrome 38 0.061
257
OP3001 Opa3-Related 3-Methylglutaconic Aciduria 36 0.061
258
MDD002 Middle Ear Cholesteatoma 34 0.061
259
FCT013 Factor V Leiden Thrombophilia 31 0.061
260
ENT005 Entropion 30 0.061
261
P SLP004 Salpingo-Oophoritis 30 0.061
262
PRP005 Parapsoriasis 30 0.061
263
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 29 0.061
264
c MNT063 Mental Retardation, X-Linked 28 0.061
265
MNT014 Mental Retardation Epilepsy 26 0.061
266
RHB020 Rhabdomyosarcoma, Somatic 23 0.061
267
P DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 23 0.061
268
c FML139 Familial Myeloma 20 0.061
269
c CHR237 Chromosome 2p Deletion 15 0.061
270
ATS134 Autosomal Dominant Nail Dysplasia 14 0.061
271
c 9P1001 9p13 Microdeletion Syndrome 13 0.061
272
c 5Q3002 5q31.3 Microdeletion Syndrome 13 0.061
273
KRT033 Krt1-Related Epidermolytic Hyperkeratosis 12 0.061
274
c HYP525 Hypotrichosis 2 5 0.061
275
DRM038 Dermotrichic Syndrome 3 0.061
276
P RFS001 Refsum Disease 73 0.053
277
DCH001 Duchenne Muscular Dystrophy 70 0.053
278
RNL002 Renal Agenesis 68 0.053
279
P HMP004 Hemophilia B 66 0.053
280
c PRM002 Primary Hyperoxaluria 63 0.053
281
ACT073 Acute Leukemia 62 0.053
282
BSL007 Basal Cell Carcinoma 62 0.053
283
c THY032 Thyroiditis 61 0.053
284
P BLR001 Biliary Atresia 60 0.053
285
ALP001 Alopecia Universalis 59 0.053
286
P EPD003 Epidermolysis Bullosa Simplex 59 0.053
287
c HYP086 Hypothyroidism 59 0.053
288
CLB001 Coloboma 56 0.053
289
FCT001 Factor Viii Deficiency 56 0.053
290
P SHR029 Short Syndrome 55 0.053
291
P CND004 Candidiasis 55 0.053
292
c MSC005 Muscular Dystrophy 54 0.053
293
RTN023 Retinitis 53 0.053
294
c MYP004 Myopathy 52 0.053
295
EVN001 Evans' Syndrome 50 0.053
296
SJG001 Sjogren's Syndrome 50 0.053
297
PRC013 Pericarditis 48 0.053
298
RHB003 Rhabdomyosarcoma 48 0.053
299
MYC033 Myoclonus 47 0.053
300
HYP009 Hypertrophic Pyloric Stenosis 47 0.053
301
P PRK001 Porokeratosis 44 0.053
302
PYL006 Pyloric Stenosis 44 0.053
303
AND001 Anodontia 44 0.053
304
RCR001 Recurrent Corneal Erosion 43 0.053
305
MCS001 Mucosulfatidosis 43 0.053
306
P LSS007 Lissencephaly X-Linked 41 0.053
307
CHR078 Chorioretinitis 41 0.053
308
GCH006 Gaucher Disease Perinatal Lethal 35 0.053
309
AMY002 Amyloid Tumor 35 0.053
310
WRN005 Wrinkles 33 0.053
311
c CHR253 Chromosome 5q Deletion 31 0.053
312
END011 Endometriosis of Ovary 30 0.053
313
P WLL018 Woolly Hair, Autosomal Dominant 30 0.053
314
15Q001 15q13.3 Microdeletion 29 0.053
315
JVN024 Juvenile Hereditary Hemochromatosis 28 0.053
316
PSD026 Pseudoainhum 25 0.053
317
16Q001 16q24.3 Microdeletion Syndrome 23 0.053
318
c IST006 Isotretinoin Syndrome 21 0.053
319
c KRN003 Kernicterus Due to Isoimmunization 18 0.053
320
CHR457 Chromosome 17p13.1 Deletion Syndrome 17 0.053
321
WLL010 Woolly Hair Syndrome 17 0.053
322
LNR007 Linear and Whorled Nevoid Hypermelanosis 17 0.053
323
GDM001 Goodman Syndrome 14 0.053
324
PRD026 Pre-Descemet Corneal Dystrophy 9 0.053
325
P OBS005 Obesity 79 0.043
326
P ART022 Arthritis 75 0.043
327
P CNG006 Congenital Hypothyroidism 69 0.043
328
MLG056 Malignant Hyperthermia 66 0.043
329
P PRT013 Portal Hypertension 65 0.043
330
IRR002 Irritable Bowel Syndrome 65 0.043
331
c HPT021 Hepatitis 65 0.043
332
STT001 Status Epilepticus 64 0.043
333
P LVR013 Liver Disease 62 0.043
334
P MTH008 Methylmalonic Acidemia 62 0.043
335
P CRD013 Cardiofaciocutaneous Syndrome 61 0.043
336
P GLM007 Glomerulonephritis 60 0.043
337
PPL022 Papilloma 60 0.043
338
BLS001 Blau Syndrome 59 0.043
339
DSS009 Disseminated Intravascular Coagulation 59 0.043
340
ACT009 Acute Monocytic Leukemia 59 0.043
341
SMT015 Smith Magenis Syndrome 58 0.043
342
ISC004 Ischemia 57 0.043
343
CHL068 Cholestasis 55 0.043
344
P PCH001 Pachyonychia Congenita 55 0.043
345
MCK007 Muckle-Wells Syndrome 55 0.043
346
HDR002 Hidradenitis Suppurativa 54 0.043
347
NRP001 Neuropathy 54 0.043
348
c MYL007 Myeloma 53 0.043
349
P FNC004 Fanconi Syndrome 52 0.043
350
MLL001 Molluscum Contagiosum 52 0.043
351
P MTP001 Metaphyseal Dysplasia 52 0.043
352
CHL069 Cholesteatoma 52 0.043
353
DND001 Dandy-Walker Syndrome 52 0.043
354
WLF002 Wolf-Hirschhorn Syndrome 51 0.043
355
P ALV004 Alveolar Rhabdomyosarcoma 51 0.043
356
c LSS002 Lissencephaly 51 0.043
357
LPC002 Lip Cancer 50 0.043
358
ALB002 Albinism 50 0.043
359
SPL018 Splenomegaly 50 0.043
360
APH002 Aphasia 49 0.043
361
CRN024 Corneal Disease 48 0.043
362
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 48 0.043
363
c BRC006 Brachydactyly 48 0.043
364
HMP005 Hemiplegia 47 0.043
365
NRN002 Neuronitis 47 0.043
366
OPT009 Optic Neuritis 46 0.043
367
P ECT006 Ectodermal Dysplasia 46 0.043
368
EPD001 Epidermodysplasia Verruciformis 46 0.043
369
PRP023 Peripheral Neuropathy 46 0.043
370
MTS001 Mutism 45 0.043
371
ECZ002 Eczema Herpeticum 45 0.043
372
EXC002 Exocrine Pancreatic Insufficiency 45 0.043
373
ORL013 Oral Lichen Planus 45 0.043
374
BLC003 Bloch-Sulzberger Syndrome 44 0.043
375
ACN010 Acanthoma 42 0.043
376
CHR101 Char Syndrome 42 0.043
377
KRT002 Keratomalacia 42 0.043
378
NNT019 Neonatal Hypothyroidism 41 0.043
379
c CTR120 Cataract, Congenital 37 0.043
380
CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 37 0.043
381
DRM011 Dermatophytosis 37 0.043
382
c CRB059 Cerebellar Degeneration 36 0.043
383
SPS003 Spastic Diplegia 36 0.043
384
P MLG090 Malignant Hyperthermia Susceptibility Type 1 34 0.043
385
AND014 Androgenic Alopecia 34 0.043
386
MTR001 Mature Cataract 32 0.043
387
IRR003 Irritant Dermatitis 32 0.043
388
TTH001 Tooth Ankylosis 31 0.043
389
ECH002 Echolalia 26 0.043
390
P KLN006 Koolen-De Vries Syndrome 25 0.043
391
INF057 Inflammatory Linear Verrucous Epidermal Nevus 24 0.043
392
CHN018 Chondrodysplasia Punctata 2, X-Linked 24 0.043
393
6Q1001 6q16 Deletion Syndrome 24 0.043
394
ZNC001 Zunich Neuroectodermal Syndrome 23 0.043
395
c CHR271 Chromosome 9q Deletion 23 0.043
396
MNS009 Monosomy 13q14 22 0.043
397
NLX001 Neu Laxova Syndrome 19 0.043
398
c FNC008 Fanconi Renotubular Syndrome 17 0.043
399
KRT047 Keratosis Pilaris Atrophicans 16 0.043
400
P ISC010 Isochromosome Yp 14 0.043
401
21Q002 21q22.13q22.2 Microdeletion Syndrome 14 0.043
402
c RRD005 Rare Deafness 10 0.043
403
c DRM033 Dermatitis, Atopic 3 8 0.043
404
P RHM011 Rheumatoid Arthritis 83 0.031
405
CDS001 Cadasil 80 0.031
406
P HYP075 Hypertension 76 0.031
407
P RTN008 Retinitis Pigmentosa 76 0.031
408
P MLT019 Multiple Myeloma 76 0.031
409
P LFR001 Li-Fraumeni Syndrome 75 0.031
410
MTC003 Metachromatic Leukodystrophy 75 0.031
411
P MLT020 Multiple Sclerosis 75 0.031
412
BLM001 Bloom Syndrome 74 0.031
413
c NNN003 Noonan Syndrome 73 0.031
414
P GCH001 Gaucher's Disease 73 0.031
415
ATT002 Attention Deficit Hyperactivity Disorder 72 0.031
416
ATS001 Autistic Disorder 71 0.031
417
BRK003 Burkitt's Lymphoma 71 0.031
418
AGR001 Age Related Macular Degeneration 71 0.031
419
ACT074 Acute Lymphocytic Leukemia 69 0.031
420
HYP004 Hypercalcemia 69 0.031
421
c MST009 Mastocytosis 67 0.031
422
CYS013 Cystinuria 67 0.031
423
FCT007 Factor Vii Deficiency 63 0.031
424
c JVN010 Juvenile Rheumatoid Arthritis 62 0.031
425
LNG032 Lung Cancer 61 0.031
426
CHR063 Chronic Mucocutaneous Candidiasis 61 0.031
427
P HST010 Histiocytosis 61 0.031
428
PMS001 Poems Syndrome 61 0.031
429
P END044 Endometriosis 61 0.031
430
P ADN016 Adenocarcinoma 60 0.031
431
CRY004 Cryoglobulinemia 59 0.031
432
c HPT015 Hepatitis D 59 0.031
433
c HYP061 Hypertrophic Cardiomyopathy 59 0.031
434
GLB001 Gilbert Syndrome 59 0.031
435
P CTS001 Cutis Laxa 59 0.031
436
P OST001 Osteopetrosis 59 0.031
437
CHR003 Cherubism 58 0.031
438
FTT001 Fatty Liver Disease 58 0.031
439
FCT006 Factor V Deficiency 58 0.031
440
DWN001 Down Syndrome 58 0.031
441
SHW002 Shwachman-Diamond Syndrome 58 0.031
442
c MLG054 Malignant Histiocytosis 58 0.031
443
P HYP013 Hypohidrotic Ectodermal Dysplasia 57 0.031
444
P VLC001 Velocardiofacial Syndrome 57 0.031
445
P PRM054 Primary Sclerosing Cholangitis 57 0.031
446
THR009 Thrombocytopenia-Absent Radius Syndrome 55 0.031
447
WLL006 Wells Syndrome 55 0.031
448
P PLY006 Polydactyly 55 0.031
449
TRN015 Transient Cerebral Ischemia 55 0.031
450
c VNT002 Ventricular Septal Defect 54 0.031
451
P PLY019 Polyneuropathy 54 0.031
452
SRC014 Sarcoma 54 0.031
453
c BLN003 Blindness 54 0.031
454
P ESN007 Eosinophilia 54 0.031
455
HNT002 Hantavirus Pulmonary Syndrome 54 0.031
456
c PRM011 Primary Ciliary Dyskinesia 54 0.031
457
CLL003 Cellulitis 53 0.031
458
LPD010 Lipodystrophy 53 0.031
459
ORL005 Oral Candidiasis 53 0.031
460
c TRT010 Teratoma 53 0.031
461
CTS003 Coats Disease 53 0.031
462
P LKD001 Leukodystrophy 53 0.031
463
GRW007 Growth Hormone Deficiency 52 0.031
464
P ESN001 Eosinophilic Esophagitis 52 0.031
465
c DST002 Distal Arthrogryposis 52 0.031
466
P PRT039 Proteinuria 51 0.031
467
TCL003 T Cell Deficiency 51 0.031
468
P SCL015 Scleritis 50 0.031
469
BCL002 B Cell Deficiency 50 0.031
470
c MCL001 Mucolipidosis 50 0.031
471
ADL002 Adult Syndrome 50 0.031
472
P MLS001 Melas Syndrome 50 0.031
473
LYM026 Lymphoblastic Leukemia 49 0.031
474
STT004 Steatorrhea 49 0.031
475
P CTN014 Cutaneous Mastocytosis 49 0.031
476
c MYP011 Myopathy Congenital 48 0.031
477
P MCL015 Mucolipidosis Ii 48 0.031
478
c OST019 Osteosclerosis 48 0.031
479
CNV002 Conversion Disorder 48 0.031
480
CRN027 Corneal Neovascularization 48 0.031
481
CLF001 Cleft Lip 47 0.031
482
HLC001 Holocarboxylase Synthetase Deficiency 47 0.031
483
PRC012 Pericardial Effusion 47 0.031
484
CHL061 Childhood Leukemia 46 0.031
485
c OPH004 Ophthalmoplegia 46 0.031
486
P CRN028 Corneal Ulcer 46 0.031
487
NRT004 Neuritis 46 0.031
488
CRV038 Cervical Squamous Cell Carcinoma 46 0.031
489
HDR003 Hidradenitis 45 0.031
490
P ATS008 Autosomal Dominant Disease 45 0.031
491
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 45 0.031
492
GRN007 Granuloma Annulare 44 0.031
493
RHZ002 Rhizomelic Chondrodysplasia Punctata Type 1 44 0.031
494
SBR005 Seborrheic Keratosis 44 0.031
495
HYP265 Hypotonia 43 0.031
496
GRM004 Germinoma 43 0.031
497
INT063 Intellectual Disability 42 0.031
498
PRS039 Prostate Adenocarcinoma 41 0.031
499
CMP009 Complement Deficiency 41 0.031
500
LPD008 Lipid Metabolism Disorder 41 0.031
501
PLM102 Palmoplantar Keratoderma, Epidermolytic 41 0.031
502
P HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 41 0.031
503
GND001 Gonadoblastoma 41 0.031
504
FND002 Fundus Dystrophy 40 0.031
505
STR044 Steroid-Resistant Nephrotic Syndrome 40 0.031
506
TND005 Tendinitis 40 0.031
507
HYP030 Hypoactive Sexual Desire Disorder 39 0.031
508
BLP005 Blepharitis 39 0.031
509
CRB045 Cerebellar Hypoplasia 38 0.031
510
P ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 38 0.031
511
HYD028 Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia 37 0.031
512
ATY019 Atypical Mole Syndrome 36 0.031
513
PLN006 Poland Syndrome 36 0.031
514
GST020 Gastric Antral Vascular Ectasia 36 0.031
515
SKN005 Skin Atrophy 36 0.031
516
P END039 Endodermal Sinus Tumor 36 0.031
517
P CLR001 Clear Cell Acanthoma 36 0.031
518
P PRX064 Peroxisome Biogenesis Disorder 2b 35 0.031
519
KRT049 Keratosis Follicularis 35 0.031
520
P 2Q3002 2q37 Microdeletion Syndrome 34 0.031
521
HYP264 Hypertonia 34 0.031
522
P HRD018 Hair Disease 33 0.031
523
ABD010 Abdominal Wall Defect 33 0.031
524
DYS036 Dysequilibrium Syndrome 32 0.031
525
P EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 32 0.031
526
PRS063 Paresthesia 32 0.031
527
BDS002 Bod Syndrome 32 0.031
528
LYM097 Lymphatic Malformation 31 0.031
529
MCR029 Micro Syndrome 31 0.031
530
DFF001 Diffuse Cutaneous Mastocytosis 30 0.031
531
TST025 Testicular Microlithiasis 29 0.031
532
BLP006 Blepharoconjunctivitis 27 0.031
533
LYM035 Lymphangiectasis 27 0.031
534
c HMP017 Hemophilia a, Congenital 26 0.031
535
c KLL003 Kallmann Syndrome 1 26 0.031
536
ART007 Aorta Atresia 26 0.031
537
GRM003 German Syndrome 26 0.031
538
c 2P2001 2p21 Microdeletion Syndrome 25 0.031
539
c FML056 Familial Deafness 24 0.031
540
EPD004 Epidermolytic Acanthoma 23 0.031
541
EPD055 Epidermolysis Bullosa Simplex, Sutosomal Recessive 2 23 0.031
542
MLD003 Meleda Disease 23 0.031
543
PLC008 Placenta Disease 22 0.031
544
ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 21 0.031
545
KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 21 0.031
546
CRN022 Corneal Degeneration 21 0.031
547
ACH002 Achilles Bursitis 19 0.031
548
c HYP181 Hypertrichosis Lanuginosa, Acquired 18 0.031
549
NVS012 Nevus Comedonicus Syndrome 17 0.031
550
ERY020 Erythroderma Lethal Congenital 16 0.031
551
CYS004 Cystic Basal Cell Carcinoma 16 0.031
552
ALP054 Alopecia-Intellectual Deficit Syndrome 14 0.031
553
DFN007 Deafness Enamel Hypoplasia Nail Defects 14 0.031
554
OTP003 Oto-Palatal-Digital Syndrome 13 0.031
555
SCL044 Scalp Syndrome 13 0.031
556
TRC081 Tricho-Oculo-Dermo-Vertebral Syndrome 12 0.031
557
LLS001 Lelis Syndrome 12 0.031
558
PLL009 Pellucid Marginal Degeneration 12 0.031
559
NNR005 Non-Rhizomelic Chondrodysplasia Punctata 11 0.031
560
NNM003 Non-Amyloid Monoclonal Immunoglobulin Deposition Disease 11 0.031
561
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 11 0.031
562
HRD113 Hereditary Acrokeratotic Poikiloderma, Weary Type 11 0.031
563
ALP053 Alopecia - Contractures - Dwarfism - Intellectual Deficit 10 0.031
564
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 10 0.031
565
STR071 Stormorken-Sjaastad-Langslet Syndrome 10 0.031
566
DST046 Distichiasis - Congenital Heart Defects - Peripheral Vascular Anomalies 10 0.031
567
ABS015 Absent Thumb - Short Stature - Immunodeficiency 9 0.031
568
c CHR254 Chromosome 5q Duplication 8 0.031
569
KRT048 Keratosis Palmaris Et Plantaris - Clinodactyly 8 0.031
570
NRC007 Neuroectodermal Endocrine Syndrome 8 0.031
571
c ZLL010 Zellweger-Like Syndrome Without Peroxisomal Anomalies 8 0.031
572
c PLN016 Peeling Skin Syndrome Type a 7 0.031
573
RDS004 Rud Syndrome 7 0.031
574
c SPS050 Spasticity Mental Retardation 7 0.031
575
INT165 Intellectual Deficit, X-Linked - Short Stature - Obesity 6 0.031
576
c CRD163 Cardiofaciocutaneous Syndrome 2 6 0.031
577
ACR078 Acral Self-Healing Collodion Baby 5 0.031
578
c CHR273 Chromosome Xp22 Deletion Syndrome 5 0.031
579
SNT002 Senter Syndrome 4 0.031