Search results for "anosmia"

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

449 hits were found for 'anosmia'

# Family MCID Name MIFTS Score
1
P KLL001 Kallmann Syndrome 61 4.952
2
HYP590 Hypogonadotropic Hypogonadism with or Without Anosmia 22 3.754
3
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 22 3.618
4
HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 20 3.618
5
HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 19 3.618
6
HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 19 3.618
7
HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 20 3.609
8
HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 20 3.609
9
ANS017 Anosmia, Isolated Congenital 15 3.601
10
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 31 3.379
11
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 36 3.265
12
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 21 3.257
13
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 19 3.257
14
HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 19 3.257
15
HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 19 3.257
16
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 15 3.248
17
HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 22 3.178
18
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 32 2.848
19
HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 20 2.848
20
HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 19 2.848
21
HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 16 2.848
22
HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 18 2.839
23
HYP566 Hypogonadotropic Hypogonadism 21 with Anosmia 15 2.839
24
HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 14 2.839
25
HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 14 2.839
26
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 23 2.277
27
WDR001 Wdr11-Related Isolated Gonadotropin-Releasing Hormone Deficiency 8 2.263
28
PRK054 Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 2.247
29
HS6001 Hs6st1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 7 2.247
30
KSS003 Kiss1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6 2.247
31
SM3001 Sema3a-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6 2.247
32
TC3001 Tac3-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6 2.247
33
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 42 2.229
34
JHN004 Johnson Neuroectodermal Syndrome 22 2.229
35
HYP204 Hypogonadotropic Hypogonadism Without Anosmia, X-Linked 2 1.628
36
PRK053 Prokr2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.610
37
FGF011 Fgfr1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.610
38
FGF012 Fgf8-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.610
39
CHD005 Chd7-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.610
40
NSM001 Nsmf-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6 1.610
41
ANS020 Anos1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.589
42
HYP080 Hypogonadism 53 0.207
43
HYP064 Hypogonadotropism 37 0.195
44
KLN001 Klinefelter's Syndrome 50 0.168
45
P CNJ013 Conjunctivitis 64 0.164
46
SNS001 Sensorineural Hearing Loss 57 0.164
47
NRN002 Neuronitis 41 0.161
48
KND001 Kindler Syndrome 57 0.157
49
KNS001 Kniest Dysplasia 53 0.157
50
HPT074 Hepatic Adenoma, Somatic 50 0.157
51
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 36 0.157
52
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.157
53
ADP007 Adie Pupil 34 0.157
54
HNM002 Hinman Syndrome 25 0.157
55
IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 12 0.157
56
P HMC003 Hemochromatosis 72 0.154
57
P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 46 0.154
58
DYS164 Dyskeratosis Congenita, X-Linked 44 0.154
59
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 41 0.154
60
c HYP507 Hypotrichosis 1 38 0.154
61
P RFS001 Refsum Disease 63 0.101
62
CHR103 Charge Syndrome 62 0.075
63
AMN001 Amenorrhea 50 0.067
64
P HLP001 Holoprosencephaly 63 0.058
65
P INF032 Infertility 59 0.058
66
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.058
67
TRM010 Traumatic Brain Injury 52 0.058
68
P ICH004 Ichthyosis 52 0.058
69
BRN071 Brain Injury 52 0.058
70
KFR001 Kufor-Rakeb Syndrome 44 0.058
71
ALR002 Al-Raqad Syndrome 36 0.058
72
PCW002 Pcwh Syndrome 26 0.058
73
BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 14 0.058
74
BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 13 0.058
75
P NRP001 Neuropathy 59 0.047
76
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 54 0.047
77
SNG010 Single Median Maxillary Central Incisor 52 0.047
78
OST015 Osteochondrodysplasia 52 0.047
79
P EST001 Estrogen-Receptor Positive Breast Cancer 48 0.047
80
GST060 Gastric Cancer, Somatic 47 0.047
81
HYP107 Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome 38 0.047
82
END025 Endometrial Squamous Cell Carcinoma 38 0.047
83
SPT019 Septo-Optic Dysplasia Spectrum 32 0.047
84
AND005 Androgen Insensitivity Syndrome, Mild 16 0.047
85
8P1001 8p11.2 Deletion Syndrome 14 0.047
86
P LNG032 Lung Cancer 95 0.034
87
P HPT023 Hepatocellular Carcinoma 92 0.034
88
P PNC035 Pancreatic Cancer 87 0.034
89
P RNL014 Renal Cell Carcinoma 82 0.034
90
GST053 Gastric Cancer 78 0.034
91
P OVR042 Ovarian Cancer 76 0.034
92
ESP021 Esophageal Cancer 76 0.034
93
END057 Endometrial Cancer 75 0.034
94
P HRT032 Heart Disease 75 0.034
95
P LFR001 Li-Fraumeni Syndrome 75 0.034
96
P PFF001 Pfeiffer Syndrome 73 0.034
97
c MCL042 Macular Degeneration, Age-Related, 1 73 0.034
98
P NRV007 Nervous System Disease 71 0.034
99
c FNC027 Fanconi Anemia, Complementation Group a 71 0.034
100
TTR001 Tetralogy of Fallot 71 0.034
101
SQM013 Squamous Cell Carcinoma, Head and Neck 70 0.034
102
SQM006 Squamous Cell Carcinoma 70 0.034
103
CRZ001 Crouzon Syndrome 70 0.034
104
P ADN016 Adenocarcinoma 69 0.034
105
BRK010 Burkitt Lymphoma 69 0.034
106
P HPT021 Hepatitis 69 0.034
107
P OST005 Osteogenesis Imperfecta 69 0.034
108
c HPT001 Hepatitis C 68 0.034
109
CMM004 Common Variable Immunodeficiency 68 0.034
110
P GLB002 Glioblastoma 68 0.034
111
P FML011 Familial Adenomatous Polyposis 68 0.034
112
APR006 Apert Syndrome 67 0.034
113
P NSP012 Nasopharyngeal Carcinoma 66 0.034
114
ACH004 Achondroplasia 66 0.034
115
URN008 Urinary Bladder Cancer 66 0.034
116
ART005 Arteriovenous Malformation 66 0.034
117
P LYM007 Lymphangioleiomyomatosis 66 0.034
118
P CRN037 Craniosynostosis 66 0.034
119
CRV047 Cervical Cancer, Somatic 65 0.034
120
P KDN017 Kidney Cancer 65 0.034
121
P AST007 Astrocytoma 65 0.034
122
BSL036 Basal Cell Nevus Syndrome 65 0.034
123
P AGM001 Agammaglobulinemia 64 0.034
124
PNC041 Pancreatic Ductal Adenocarcinoma 64 0.034
125
OST085 Osteosarcoma, Somatic 63 0.034
126
GLB015 Glioblastoma Multiforme 63 0.034
127
GLL018 Gallbladder Cancer 63 0.034
128
P THN009 Thanatophoric Dysplasia, Type I 63 0.034
129
P LNG064 Lung Cancer Susceptibility 3 62 0.034
130
P CNT061 Conotruncal Heart Malformations 62 0.034
131
SKN019 Skin Melanoma 62 0.034
132
P SLV002 Salivary Gland Cancer 61 0.034
133
P ESP024 Esophagitis 61 0.034
134
P MYM002 Moyamoya Disease 61 0.034
135
CHR072 Chordoma 61 0.034
136
HPY002 H. Pylori Infection 61 0.034
137
c CNG006 Congenital Hypothyroidism 60 0.034
138
MNK003 Muenke Syndrome 60 0.034
139
P GLM045 Glioma 60 0.034
140
P NRV006 Nervous System Cancer 60 0.034
141
P GST049 Gastrointestinal System Cancer 60 0.034
142
FLL027 Fallopian Tube Carcinoma 60 0.034
143
P CNG015 Congenital Diaphragmatic Hernia 60 0.034
144
MLG108 Malignant Melanoma, Somatic 60 0.034
145
P UVL004 Uveal Melanoma 60 0.034
146
CRV038 Cervical Squamous Cell Carcinoma 60 0.034
147
P VNT002 Ventricular Septal Defect 60 0.034
148
P STH001 Saethre-Chotzen Syndrome 60 0.034
149
P CTR001 Citrullinemia 59 0.034
150
P ORL007 Oral Cavity Cancer 59 0.034
151
TNG009 Tongue Squamous Cell Carcinoma 59 0.034
152
OCL009 Ocular Cancer 59 0.034
153
LDD001 Ladd Syndrome 59 0.034
154
c FML001 Familial Atrial Fibrillation 58 0.034
155
P BRS044 Breast Adenocarcinoma 58 0.034
156
TNG003 Tongue Cancer 58 0.034
157
BNC003 Bone Cancer 58 0.034
158
P PNL012 Penile Cancer 58 0.034
159
P LRY044 Larynx Cancer 57 0.034
160
P HYP040 Hypospadias 57 0.034
161
c CWD006 Cowden Syndrome 1 57 0.034
162
ADM013 Adamantinoma of Long Bones 57 0.034
163
ORL015 Oral Squamous Cell Carcinoma 57 0.034
164
SFT003 Soft Tissue Sarcoma 57 0.034
165
PNC033 Pancreas Adenocarcinoma 57 0.034
166
HYP042 Hypochondroplasia 57 0.034
167
ORL011 Oral Cancer 56 0.034
168
END041 Endometrial Adenocarcinoma 56 0.034
169
P OLG002 Oligodendroglioma 56 0.034
170
P PLY006 Polydactyly 56 0.034
171
GST023 Gastric Ulcer 56 0.034
172
P SPN301 Spinocerebellar Ataxia 2 56 0.034
173
INT079 Intrahepatic Cholangiocarcinoma 56 0.034
174
c MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.034
175
BLD034 Bile Duct Carcinoma 56 0.034
176
PTN001 Patent Foramen Ovale 55 0.034
177
P FNC043 Fanconi Anemia, Complementation Group E 55 0.034
178
GLS001 Gliosarcoma 55 0.034
179
URN010 Urinary Tract Obstruction 55 0.034
180
PPL022 Papilloma 55 0.034
181
c EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.034
182
PLL001 Pallister-Hall Syndrome 55 0.034
183
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 54 0.034
184
c RNL003 Renal Clear Cell Carcinoma 54 0.034
185
LYM022 Lymphangioma 54 0.034
186
P MCR129 Microvascular Complications of Diabetes 1 54 0.034
187
c PRM126 Primary Peritoneal Carcinoma 54 0.034
188
CHL127 Cholangiocarcinoma, Susceptibility to 54 0.034
189
BLD087 Bladder Cancer, Somatic 54 0.034
190
VRR004 Verrucous Carcinoma 54 0.034
191
CRV040 Cervix Carcinoma 53 0.034
192
SDC002 Sed Congenita 53 0.034
193
TRN018 Transitional Cell Carcinoma 53 0.034
194
P CRV031 Cervical Adenocarcinoma 53 0.034
195
c INS002 in Situ Carcinoma 53 0.034
196
CLR030 Clear Cell Renal Cell Carcinoma 53 0.034
197
P SYN001 Syndactyly 53 0.034
198
P ATX004 Ataxia 53 0.034
199
P ATR001 Atrioventricular Septal Defect 52 0.034
200
UTR024 Uterine Carcinosarcoma 52 0.034
201
c INF023 Inflammatory Breast Carcinoma 52 0.034
202
c OST080 Osteogenesis Imperfecta, Type Ii 52 0.034
203
GST040 Gastric Adenocarcinoma 52 0.034
204
P PRT096 Peritoneal Mesothelioma 52 0.034
205
KRT009 Keratosis 52 0.034
206
c CRD099 Cardiomyopathy, Dilated, 1e 52 0.034
207
RYS001 Reye Syndrome 52 0.034
208
SMT008 Smith-Magenis Syndrome 52 0.034
209
c BRS049 Breast Carcinoma in Situ 51 0.034
210
c SPN291 Spinocerebellar Ataxia 7 51 0.034
211
ANK001 Ankylosis 51 0.034
212
DBT062 Diabetic Foot Ulcers 51 0.034
213
DCT002 Ductal Carcinoma in Situ 51 0.034
214
P GND004 Gonadal Dysgenesis 51 0.034
215
ACT008 Actinic Keratosis 51 0.034
216
PPL002 Papillary Carcinoma 51 0.034
217
CLR109 Colorectal Adenocarcinoma 51 0.034
218
ORL004 Oral Submucous Fibrosis 51 0.034
219
BLD131 Bladder Urothelial Carcinoma 51 0.034
220
c MLG068 Malignant Glioma 51 0.034
221
c DSB006 Desbuquois Dysplasia 1 50 0.034
222
GRD007 Grade Iii Astrocytoma 50 0.034
223
CLF001 Cleft Lip 50 0.034
224
BRS099 Breast Ductal Carcinoma 50 0.034
225
FML038 Female Reproductive Organ Cancer 50 0.034
226
ESP020 Esophageal Atresia 50 0.034
227
VTR013 Vitreoretinopathy, Neovascular Inflammatory 50 0.034
228
RTN015 Retinal Cancer 49 0.034
229
GLM004 Gliomatosis Cerebri 49 0.034
230
PRN021 Paranasal Sinus Disease 49 0.034
231
URB001 Urbach-Wiethe Disease 49 0.034
232
BCL002 B Cell Deficiency 49 0.034
233
JCK001 Jackson-Weiss Syndrome 49 0.034
234
CHR001 Churg-Strauss Syndrome 49 0.034
235
P KBK002 Kabuki Syndrome 1 49 0.034
236
TRN044 Transposition of the Great Arteries 48 0.034
237
MCP006 Mucoepidermoid Carcinoma 48 0.034
238
NSD001 Nose Disease 48 0.034
239
c ATS308 Autosomal Dominant Cerebellar Ataxia 48 0.034
240
CNG028 Congenital Hypoplastic Anemia 48 0.034
241
DNT016 Dentatorubro-Pallidoluysian Atrophy 47 0.034
242
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 47 0.034
243
ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 47 0.034
244
c CHR418 Chronic Leukemia 47 0.034
245
INT253 Intestinal Benign Neoplasm 47 0.034
246
CRB027 Cerebellar Disease 47 0.034
247
OST044 Osteoglophonic Dysplasia 47 0.034
248
PLC003 Placental Site Trophoblastic Tumor 47 0.034
249
DBT006 Diabetic Macular Edema 47 0.034
250
c SPR009 Sporadic Breast Cancer 47 0.034
251
PLM041 Pulmonary Valve Stenosis 47 0.034
252
SPN035 Spindle Cell Sarcoma 47 0.034
253
VLV044 Vulvar Intraepithelial Neoplasia 47 0.034
254
PNC013 Pancreatic Ductal Carcinoma 46 0.034
255
SPT006 Septooptic Dysplasia 46 0.034
256
PRS039 Prostate Adenocarcinoma 46 0.034
257
ORL012 Oral Leukoplakia 46 0.034
258
P CLR019 Color Blindness 46 0.034
259
SPH001 Sapho Syndrome 46 0.034
260
SYN005 Synostosis 46 0.034
261
c CLL013 Cell Type Cancer 46 0.034
262
ALB002 Albinism 46 0.034
263
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 0.034
264
ADN027 Adenomyosis 46 0.034
265
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.034
266
ORP003 Oropharynx Cancer 45 0.034
267
P ATR010 Atrial Heart Septal Defect 45 0.034
268
ATN004 Autonomic Neuropathy 45 0.034
269
EBS001 Ebstein Anomaly 45 0.034
270
SKL017 Skeletal Dysplasias 45 0.034
271
TRC040 Tracheoesophageal Fistula 45 0.034
272
P RPR003 Reproductive Organ Cancer 44 0.034
273
P OVR106 Ovarian Clear Cell Carcinoma 44 0.034
274
VLV032 Vulva Cancer 44 0.034
275
P SDR002 Siderosis 44 0.034
276
BRR002 Barrett's Adenocarcinoma 44 0.034
277
AZS001 Azoospermia 44 0.034
278
c HRD026 Hereditary Ataxia 44 0.034
279
ARR025 Arrhythmogenic Right Ventricular Dysplasia 5 44 0.034
280
P TRC087 Tricuspid Valve Disease 44 0.034
281
LGH004 Light Chain Deposition Disease 44 0.034
282
P PHR004 Pharynx Cancer 44 0.034
283
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.034
284
PHY002 Physical Disorder 43 0.034
285
c FNC032 Fanconi Anemia, Complementation Group B 43 0.034
286
c ACH035 Achondrogenesis Ib 43 0.034
287
PLG004 Plagiocephaly 43 0.034
288
DDF001 Dedifferentiated Liposarcoma 43 0.034
289
ACT087 Acth Deficiency 43 0.034
290
LNG017 Lung Giant Cell Carcinoma 43 0.034
291
HDR006 Hidradenocarcinoma 43 0.034
292
TRC062 Tricuspid Atresia 43 0.034
293
P DSB002 Desbuquois Dysplasia 43 0.034
294
SNS023 Sensory System Cancer 43 0.034
295
EWN002 Ewing's Family of Tumors 43 0.034
296
P PLM040 Pulmonary Valve Disease 43 0.034
297
INF039 Infratentorial Cancer 42 0.034
298
c ACT159 Acute Transverse Myelitis 42 0.034
299
P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 42 0.034
300
SYN031 Synovial Chondromatosis 42 0.034
301
KLT001 Klatskin's Tumor 42 0.034
302
PTT041 Pituitary Stalk Interruption Syndrome 42 0.034
303
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 42 0.034
304
OCL001 Ocular Albinism 42 0.034
305
TBL003 Tubular Adenocarcinoma 42 0.034
306
BLD130 Bladder Exstrophy 42 0.034
307
c SPN265 Spinocerebellar Ataxia 36 42 0.034
308
ASB001 Asbestosis 42 0.034
309
P VSC013 Visceral Heterotaxy 42 0.034
310
P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 41 0.034
311
c SPN304 Spinocerebellar Ataxia 8 41 0.034
312
BSL006 Basaloid Squamous Cell Carcinoma 41 0.034
313
ESP025 Esophagus Adenocarcinoma 41 0.034
314
ANH002 Anhidrosis 41 0.034
315
c PRM023 Pre-Malignant Neoplasm 41 0.034
316
P CNG024 Congenital Nystagmus 40 0.034
317
OVR060 Ovary Epithelial Cancer 40 0.034
318
BMR001 Boomerang Dysplasia 40 0.034
319
CLR096 Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 40 0.034
320
HRT011 Heart Septal Defect 40 0.034
321
PSD009 Pseudohermaphroditism 40 0.034
322
LCH001 Leech Infestation 40 0.034
323
EPS026 Epispadias 40 0.034
324
CRV033 Cervical Adenosquamous Carcinoma 40 0.034
325
BND014 Bone Development Disease 40 0.034
326
MLG014 Malignant Fibrous Histiocytoma of Bone 40 0.034
327
c HLP013 Holoprosencephaly-4 39 0.034
328
CRB009 Cerebritis 39 0.034
329
ANL004 Anal Canal Squamous Cell Carcinoma 39 0.034
330
MRC001 Marchiafava Bignami Disease 39 0.034
331
KRT063 Keratocystic Odontogenic Tumor 39 0.034
332
SPN036 Spinal Chordoma 39 0.034
333
WNC001 Winchester Syndrome 39 0.034
334
HYP036 Hyperlysinemia 38 0.034
335
BLD047 Bladder Squamous Cell Carcinoma 38 0.034
336
CHR211 Chromosome 18p Deletion Syndrome 38 0.034
337
c INT059 Internal Hemorrhoid 38 0.034
338
SYN003 Synchronous Bilateral Breast Carcinoma 38 0.034
339
SXD001 Sex Differentiation Disease 38 0.034
340
LNG013 Lung Lymphoma 38 0.034
341
c GST048 Gastrointestinal System Benign Neoplasm 38 0.034
342
c SKN012 Skin Carcinoma in Situ 38 0.034
343
BNR001 Bone Remodeling Disease 37 0.034
344
MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 37 0.034
345
P CLR001 Clear Cell Acanthoma 37 0.034
346
SCR016 Scrotal Carcinoma 37 0.034
347
TNS013 Tonsil Squamous Cell Carcinoma 37 0.034
348
BNT003 Bent Bone Dysplasia Syndrome 37 0.034
349
c LRS002 Larsen-Like Syndrome 37 0.034
350
c RNG023 Ring Chromosome 7 37 0.034
351
RTN013 Retinal Hemangioblastoma 37 0.034
352
SML028 Semilobar Holoprosencephaly 37 0.034
353
DXR001 Doxorubicin Induced Cardiomyopathy 37 0.034
354
c MYP079 Myopathy, Myofibrillar, 5 37 0.034
355
CRB148 Cerebral Creatine Deficiency Syndrome 3 36 0.034
356
MTG002 Mutagen Sensitivity 36 0.034
357
P ATL001 Atelosteogenesis 36 0.034
358
BNS004 Bone Squamous Cell Carcinoma 36 0.034
359
CMP035 Complete Atrioventricular Canal 36 0.034
360
BLN002 Balanitis Xerotica Obliterans 36 0.034
361
c PFF007 Pfeiffer Syndrome Type 1 36 0.034
362
LRG003 Large Cell Medulloblastoma 36 0.034
363
ETH008 Ethmoid Sinus Cancer 35 0.034
364
TTL010 Total Anomalous Pulmonary Venous Return 35 0.034
365
BRS063 Breast Squamous Cell Carcinoma 35 0.034
366
CHL122 Cholesteatoma of Middle Ear 35 0.034
367
ALB014 Alobar Holoprosencephaly 35 0.034
368
c DFN120 Deafness, Autosomal Recessive 39 35 0.034
369
c PLM022 Pulmonary Valve Insufficiency 34 0.034
370
WRT001 Worth's Syndrome 34 0.034
371
DPH019 Diaphanospondylodysostosis 34 0.034
372
CRV002 Cervix Uteri Carcinoma in Situ 34 0.034
373
CRN021 Cornea Cancer 34 0.034
374
FML029 Familial Renal Papillary Carcinoma 34 0.034
375
SQM018 Squamous Cell Carcinoma of the Oral Tongue 34 0.034
376
P DXT004 Dextro-Looped Transposition of the Great Arteries 34 0.034
377
LBR025 Lobar Holoprosencephaly 34 0.034
378
SPR066 Superficial Siderosis 34 0.034
379
BWN003 Bowenoid Papulosis 34 0.034
380
OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 34 0.034
381
VLV008 Vulvitis 33 0.034
382
VLL001 Villous Adenocarcinoma 33 0.034
383
BRS057 Breast Mucinous Carcinoma 33 0.034
384
P HRD161 Hereditary Motor and Sensory Neuropathy Via 33 0.034
385
MCR001 Microcystic Meningioma 33 0.034
386
c WRD024 Waardenburg Syndrome, Type 4c 32 0.034
387
AML004 Ameloblastic Carcinoma 32 0.034
388
LYD011 Leydig Cell Hypoplasia 32 0.034
389
ISL109 Isolated Cleft Lip 32 0.034
390
FGF001 Fgfr-Related Craniosynostosis Syndromes 32 0.034
391
DGN003 Degeneration of Macula and Posterior Pole 32 0.034
392
INF011 Infiltrating Angiolipoma 32 0.034
393
BRN011 Brain Stem Astrocytic Neoplasm 32 0.034
394
P BRN030 Brain Ependymoma 32 0.034
395
PRS016 Periosteal Chondrosarcoma 31 0.034
396
LYM043 Lymphocytic Hypophysitis 31 0.034
397
URT011 Urethral Calculus 31 0.034
398
LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 31 0.034
399
PRT048 Partial Atrioventricular Canal 30 0.034
400
SPN034 Spindle Cell Synovial Sarcoma 30 0.034
401
c ATS341 Autosomal Dominant Nonsyndromic Deafness 20 30 0.034
402
c ATS339 Autosomal Recessive Nonsyndromic Deafness 97 30 0.034
403
BSL037 Basal Laminar Drusen 30 0.034
404
LTM002 Luteoma 30 0.034
405
RTN006 Retinal Drusen 30 0.034
406
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 29 0.034
407
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 0.034
408
SPT016 Septopreoptic Holoprosencephaly 29 0.034
409
EXT051 Extracranial Arteriovenous Malformation 29 0.034
410
c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 29 0.034
411
GST008 Gastric Adenosquamous Carcinoma 29 0.034
412
VBR001 Vibratory Urticaria 29 0.034
413
BRS055 Breast Intraductal Proliferative Lesion 28 0.034
414
c DFN029 Deafness, Autosomal Recessive 51 28 0.034
415
CNJ006 Conjunctival Intraepithelial Neoplasm 28 0.034
416
LWR004 Lower Urinary Tract Calculus 28 0.034
417
c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 28 0.034
418
PLM009 Pleomorphic Adenoma Carcinoma 28 0.034
419
24D001 2,4-Dienoyl-Coa Reductase Deficiency 27 0.034
420
CRB137 Cerebral Creatine Deficiency Syndrome 27 0.034
421
CRT055 Creatine Deficiency Syndromes 27 0.034
422
c ATS005 Autosomal Dominant Nonsyndromic Deafness 27 0.034
423
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 26 0.034
424
c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 26 0.034
425
NNP005 Non-Proliferative Fibrocystic Change of the Breast 25 0.034
426
c DFN266 Deafness, Autosomal Dominant 4b 25 0.034
427
ISL062 Isolated Plagiocephaly 24 0.034
428
THY016 Thyroid Hurthle Cell Adenoma 24 0.034
429
SRC007 Sarcomatoid Transitional Cell Carcinoma 24 0.034
430
ISL061 Isolated Brachycephaly 23 0.034
431
NRS005 Neurosarcoidosis 23 0.034
432
P BRS060 Breast Papillomatosis 23 0.034
433
46X020 46xy Sex Reversal 3 23 0.034
434
18P001 18p Deletion Syndrome 22 0.034
435
c PRK008 Parkinson Disease Type 9 20 0.034
436
CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 19 0.034
437
c HR2002 Her2-Receptor Negative Breast Cancer 19 0.034
438
c KLL005 Kallmann Syndrome 3 17 0.034
439
ENC002 Eunuchism 16 0.034
440
OLF001 Olfactory Nerve Disease 16 0.034
441
c KLL007 Kallmann Syndrome 5 15 0.034
442
LGR001 Laugier-Hunziker Syndrome 15 0.034
443
c KLL006 Kallmann Syndrome 4 15 0.034
444
DRM041 Dermoid Cysts, Familial Frontonasal 14 0.034
445
CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 13 0.034
446
c KLL008 Kallmann Syndrome 6 13 0.034
447
CMP068 Complete Atrioventricular Canal-Fallot Tetralogy Syndrome 12 0.034
448
RSS003 Resistance to Lh 12 0.034
449
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 9 0.034