Search results for fgf8

341 hits were found for fgf8

# Family MCID Name MIFTS Score
1
c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28 37.424
2
c KLL008 Kallmann Syndrome 6 12 37.388
3
P KLL001 Kallmann Syndrome 65 36.911
4
P HLP001 Holoprosencephaly 69 31.622
5
c HLP023 Holoprosencephaly 1 56 24.169
6
P HYP730 Hypogonadotropic Hypogonadism 53 20.450
7
HYP080 Hypogonadism 50 19.155
8
SML028 Semilobar Holoprosencephaly 48 18.850
9
P BRS047 Breast Cancer 98 17.009
10
P CRN037 Craniosynostosis 68 16.368
11
P PRS040 Prostate Cancer 95 15.273
12
P HYP040 Hypospadias 51 14.766
13
CHR619 Chromosome 2q35 Duplication Syndrome 64 12.829
14
TRT001 Teratocarcinoma 42 11.795
15
PFF001 Pfeiffer Syndrome 77 11.638
16
CLF027 Cleft Palate, Isolated 64 11.478
17
P PRK057 Parkinson Disease, Late-Onset 80 11.164
18
PRS045 Prostatic Hypertrophy 53 11.095
19
P MCR010 Microcephaly 60 10.884
20
NRL016 Neural Tube Defects 81 10.584
21
DGR001 Digeorge Syndrome 62 10.230
22
VLC001 Velocardiofacial Syndrome 57 8.899
23
CNG562 Congenital Hypogonadotropic Hypogonadism 33 8.830
24
SPT006 Septooptic Dysplasia 62 8.708
25
c ART115 Aortic Valve Disease 1 74 8.613
26
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 50 8.613
27
P SNS001 Sensorineural Hearing Loss 59 8.613
28
CRY035 Cryptorchidism, Unilateral or Bilateral 58 8.500
29
CHR103 Charge Syndrome 66 8.425
30
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45 8.416
31
DBL002 Double Outlet Right Ventricle 57 8.177
32
HMF006 Hemifacial Microsomia 55 8.084
33
VCT001 Vacterl Association 47 8.084
34
LBR025 Lobar Holoprosencephaly 47 8.044
35
MCR173 Microform Holoprosencephaly 44 8.044
36
P SYN075 Syngnathia 43 7.755
37
P RNL100 Renal Hypodysplasia/aplasia 1 63 7.699
38
CLB010 Coloboma of Macula 53 7.699
39
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44 7.535
40
ALB014 Alobar Holoprosencephaly 46 7.535
41
SPT016 Septopreoptic Holoprosencephaly 36 7.535
42
HRT011 Heart Septal Defect 49 7.529
43
CHN065 Choanal Atresia, Posterior 48 7.337
44
P THN009 Thanatophoric Dysplasia, Type I 63 7.228
45
P ORF002 Orofacial Cleft 43 6.972
46
P AXN002 Axenfeld-Rieger Syndrome 63 6.972
47
HRT030 Hartsfield Syndrome 46 6.810
48
c VSC019 Vesicoureteral Reflux 1 57 6.810
49
P WRD001 Waardenburg's Syndrome 60 6.810
50
AGN012 Agnathia-Otocephaly Complex 53 6.738
51
CRZ001 Crouzon Syndrome 65 6.599
52
ANS023 Anus, Imperforate 56 6.599
53
TTH002 Tooth Agenesis 61 6.599
54
TTH032 Tooth Size 35 6.599
55
SCR020 Sacral Defect with Anterior Meningocele 59 6.599
56
ODN023 Odontochondrodysplasia 67 6.599
57
HLT001 Holt-Oram Syndrome 66 6.599
58
CRN167 Caronte 8 6.599
59
MNK003 Muenke Syndrome 57 6.599
60
c DFN029 Deafness, Autosomal Recessive 51 20 6.599
61
DPN005 Du Pan Syndrome 47 6.090
62
MTC100 Metacarpal 4-5 Fusion 31 6.090
63
LYM004 Lymphoid Interstitial Pneumonia 49 6.090
64
P RTN008 Retinitis Pigmentosa 80 6.090
65
PNH005 Panhypopituitarism, X-Linked 26 6.090
66
P VND007 Van Der Woude Syndrome 1 60 6.090
67
JCK001 Jackson-Weiss Syndrome 49 6.090
68
TCL025 T-Cell Immunodeficiency with Thymic Aplasia 42 6.090
69
c HLP016 Holoprosencephaly 11 46 6.090
70
RSP023 Rasopathy 53 6.090
71
CHR569 Chromosomal Duplication Syndrome 21 6.090
72
P CHR084 Chromosomal Disease 34 6.090
73
PHY002 Physical Disorder 41 6.090
74
SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 33 6.090
75
HND004 Hand-Foot-Genital Syndrome 47 6.090
76
LCR014 Lacrimoauriculodentodigital Syndrome 57 6.090
77
c DFN182 Deafness, Autosomal Recessive 71 35 6.090
78
c HLP027 Holoprosencephaly 7 49 6.090
79
P TTR001 Tetralogy of Fallot 69 6.090
80
P PLL001 Pallister-Hall Syndrome 62 6.090
81
SLT005 Solitary Median Maxillary Central Incisor 49 6.090
82
c HLP029 Holoprosencephaly 4 43 6.090
83
APR006 Apert Syndrome 70 6.090
84
P TWN003 Townes-Brocks Syndrome 55 6.090
85
P PRT042 Parietal Foramina 51 6.090
86
DSS008 Disease of Mental Health 74 6.090
87
SYN005 Synostosis 43 6.090
88
c CNG031 Congenital Nervous System Abnormality 24 6.090
89
P BND014 Bone Development Disease 33 6.090
90
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25 4.755
91
P PLY006 Polydactyly 59 4.440
92
CLF001 Cleft Lip 53 4.347
93
CLF004 Cleft Lip/palate 57 3.999
94
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 3.882
95
CNT061 Conotruncal Heart Malformations 66 3.247
96
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 3.133
97
EXN003 Exencephaly 30 2.951
98
c BRN108 Branchiootic Syndrome 1 62 2.865
99
PTT009 Pituitary Gland Disease 53 2.865
100
OST012 Osteoarthritis 77 2.806
101
c SPL067 Split-Hand/foot Malformation 1 46 2.750
102
ISL121 Isolated Split Hand-Split Foot Malformation 41 2.750
103
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 2.682
104
c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37 2.618
105
P HPT023 Hepatocellular Carcinoma 96 2.618
106
GRG001 Greig Cephalopolysyndactyly Syndrome 64 2.603
107
P SPL061 Split Hand-Foot Malformation 43 2.603
108
P NRB001 Neuroblastoma 66 2.551
109
PRS129 Prostatic Hyperplasia, Benign 49 2.482
110
47X002 47,xyy 48 2.410
111
PLY150 Polykaryocytosis Inducer 29 2.355
112
P DBT005 Diabetes Insipidus 54 2.335
113
MBS002 Moebius Syndrome 54 2.335
114
P ECT006 Ectodermal Dysplasia 63 2.262
115
P CLR023 Colorectal Cancer 100 2.174
116
ESP021 Esophageal Cancer 83 2.174
117
HPT022 Hepatoblastoma 54 2.162
118
KSH004 Kashin-Beck Disease 38 2.086
119
P ADN016 Adenocarcinoma 63 2.086
120
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 54 1.993
121
VTR016 Vater/vacterl Association 49 1.993
122
ESP020 Esophageal Atresia 60 1.993
123
RNL025 Renal Hypoplasia 41 1.894
124
DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 33 1.894
125
FBR054 Fibroma 44 1.894
126
P LKD001 Leukodystrophy 59 1.894
127
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24 1.894
128
ODN005 Odontogenic Myxoma 31 1.894
129
P VNT002 Ventricular Septal Defect 58 1.834
130
P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51 1.785
132
P TRT010 Teratoma 51 1.762
133
OLG001 Oligospermia 45 1.762
134
PNS014 Penis Agenesis 36 1.762
135
P RSP003 Respiratory Failure 74 1.665
136
P RCT021 Rectum Cancer 54 1.665
137
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 1.651
138
P PHC003 Pheochromocytoma 69 1.609
139
ADR040 Adrenal Gland Pheochromocytoma 46 1.609
140
GNG008 Ganglioneuroblastoma 47 1.609
141
PTR032 Peters-Plus Syndrome 63 1.551
142
ACR008 Acrocallosal Syndrome 70 1.529
143
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.529
144
P MDL005 Medulloblastoma 75 1.529
145
P HYP087 Hypotrichosis 42 1.529
146
P LTR001 Lateral Sclerosis 58 1.529
147
P OVR082 Overgrowth Syndrome 49 1.439
148
P HYP086 Hypothyroidism 69 1.439
149
PRS021 Prostatic Adenoma 43 1.346
150
EMB004 Embryonal Carcinoma 56 1.346
151
P SCL018 Scoliosis 57 1.246
152
CHR074 Choriocarcinoma 46 1.246
153
SMN007 Seminoma 42 1.246
154
TST018 Testicular Yolk Sac Tumor 39 1.246
155
P END039 Endodermal Sinus Tumor 41 1.246
156
P OVR042 Ovarian Cancer 88 1.240
157
SMT008 Smith-Magenis Syndrome 54 1.156
158
TKL001 Tukel Syndrome 52 1.156
159
P JBR020 Joubert Syndrome 1 74 1.156
160
P HYP265 Hypotonia 42 1.156
161
HMM005 Hemimelia 34 1.138
162
c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29 1.138
163
RHB024 Rhabdomyosarcoma 2 67 1.138
164
P RHB003 Rhabdomyosarcoma 66 1.138
165
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25 1.138
166
MCR013 Microphthalmia 60 1.138
167
c ORF037 Orofaciodigital Syndrome I 59 1.018
168
P GST053 Gastric Cancer 83 1.018
169
P HNT016 Huntington Disease 73 1.018
170
c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46 1.018
171
PST092 Posttransplant Acute Limbic Encephalitis 28 1.018
172
P HYD006 Hydrocephalus 61 1.018
173
P PLY011 Polycystic Ovary Syndrome 57 1.018
174
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.881
175
ANN002 Anencephaly 57 0.881
176
CRV035 Cervical Cancer 73 0.881
177
c PRG020 Paragangliomas 3 39 0.881
178
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.881
179
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30 0.881
180
P PRK039 Parkinsonism 55 0.881
181
SPN035 Spindle Cell Sarcoma 54 0.881
182
P ORF001 Orofaciodigital Syndrome 50 0.881
183
HLX001 Helix Syndrome 48 0.881
184
SRC014 Sarcoma 65 0.881
185
CHD009 Chd7 Disorder 9 0.881
186
P ENC008 Encephalocele 46 0.881
187
P PNC035 Pancreatic Cancer 86 0.731
188
CNT108 Central Polydactyly 14 0.720
189
SKL017 Skeletal Dysplasias 41 0.720
190
SPN186 Spinal Cord Injury 61 0.720
191
RGH006 Right Aortic Arch 29 0.720
192
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.720
193
HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60 0.720
194
SRC027 Sarcoma, Synovial 58 0.720
195
P PLY147 Polydactyly, Postaxial, Type A1 48 0.720
196
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 0.720
197
PRP027 Peripheral Vascular Disease 71 0.720
198
c ATS007 Autism Spectrum Disorder 72 0.720
199
P CHN012 Chondrosarcoma 57 0.720
200
c WRD020 Waardenburg Syndrome, Type 4a 49 0.720
201
c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27 0.720
202
c EXS020 Exostoses, Multiple, Type Ii 38 0.720
203
c EXS019 Exostoses, Multiple, Type I 54 0.720
204
HND015 Hand Skill, Relative 30 0.720
205
P HYP083 Hypopituitarism 52 0.720
206
FTT001 Fatty Liver Disease 62 0.720
207
PLC005 Placental Insufficiency 56 0.720
208
c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26 0.720
209
c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25 0.720
210
RCK004 Rickets 68 0.720
211
c PRC016 Pre-Eclampsia 65 0.720
212
P VSC007 Vascular Disease 63 0.720
213
P ECL001 Eclampsia 52 0.720
214
HYD002 Hydronephrosis 58 0.720
215
P INF032 Infertility 57 0.720
216
P EYD002 Eye Disease 57 0.720
217
c 46X082 46,xy Sex Reversal 52 0.720
218
SQM006 Squamous Cell Carcinoma 60 0.720
219
HTR003 Heterotaxy 43 0.720
220
P PRC019 Precocious Puberty 47 0.720
221
SFT003 Soft Tissue Sarcoma 57 0.720
222
c CNT075 Central Precocious Puberty 53 0.720
223
ART030 Aortic Arch Interruption 25 0.720
224
MCP006 Mucoepidermoid Carcinoma 48 0.647
225
P LNG032 Lung Cancer 98 0.517
226
SZR001 Sezary's Disease 60 0.517
227
P SPN237 Spina Bifida Aperta 19 0.509
228
CLP005 Ciliopathy 41 0.509
229
AML065 Amelia 29 0.509
230
GRW007 Growth Hormone Deficiency 46 0.509
231
P RRT020 Rare Tumor 39 0.509
232
P NSP012 Nasopharyngeal Carcinoma 61 0.509
233
P LPR021 Leprosy 3 71 0.509
234
P SPR119 Spermatogenic Failure, X-Linked, 1 36 0.509
235
TBX002 T-Box 24 6 0.509
236
c LSS005 Lissencephaly 1 57 0.509
237
FRY006 Fryns Microphthalmia Syndrome 52 0.509
238
BRT054 Brittle Bone Disorder 74 0.509
239
END057 Endometrial Cancer 72 0.509
240
c HLP024 Holoprosencephaly 2 49 0.509
241
P MRR011 Mirror Movements 1 50 0.509
242
P MLT020 Multiple Sclerosis 79 0.509
243
BRN003 Branchiooculofacial Syndrome 53 0.509
244
THN010 Thanatophoric Dysplasia, Type Ii 45 0.509
245
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.509
246
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53 0.509
247
OTT002 Otitis Media 71 0.509
248
MCC012 Mccune-Albright Syndrome 70 0.509
249
P SLP006 Sleep Apnea 69 0.509
250
MYX005 Myxoid Liposarcoma 65 0.509
251
P PLY014 Polycystic Kidney Disease 69 0.509
252
MYX013 Myxofibrosarcoma 44 0.509
253
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 0.509
254
P CRB045 Cerebellar Hypoplasia 40 0.509
255
c CNG006 Congenital Hypothyroidism 63 0.509
256
P PRV002 Periventricular Nodular Heterotopia 52 0.509
257
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.509
258
c CHR320 Chiari Malformation Type I 46 0.509
259
P PRD006 Prader-Willi Syndrome 61 0.509
260
P PRT008 Proteus Syndrome 63 0.509
261
BSM002 Bosma Arhinia Microphthalmia Syndrome 44 0.509
262
ERL051 Early Response to Neural Induction Gene 8 0.509
263
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.509
264
c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24 0.509
265
c HLP022 Holoprosencephaly 8 22 0.509
266
MCR302 Macrostomia, Isolated 29 0.509
267
CHN056 Chondrosarcoma, Extraskeletal Myxoid 42 0.509
268
DRM014 Dermatofibrosarcoma Protuberans 65 0.509
269
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 69 0.509
270
c HYD064 Hydrocephalus, Congenital, 1 51 0.509
271
c WLM013 Wilms Tumor 1 66 0.509
272
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 0.509
273
TTH030 Teeth, Supernumerary 33 0.509
274
ULN003 Ulnar-Mammary Syndrome 56 0.509
275
c SML038 Small Cell Cancer of the Lung 69 0.509
276
HYP748 Hypertelorism 46 0.509
277
c HLP026 Holoprosencephaly 3 48 0.509
278
HRW001 Hair Whorl 35 0.509
279
ACH004 Achondroplasia 66 0.509
280
ANK020 Ankyloglossia with or Without Tooth Anomalies 46 0.509
281
ANS017 Anosmia, Isolated Congenital 25 0.509
282
c HLP028 Holoprosencephaly 5 47 0.509
283
ORL015 Oral Squamous Cell Carcinoma 43 0.509
284
NRN047 Neuroendocrine Neoplasm of Pancreas 19 0.509
285
FBR009 Fibrous Dysplasia 48 0.509
286
FCL090 Facial Cleft 30 0.509
287
RPD005 Rapidly Involuting Congenital Hemangioma 46 0.509
288
ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 16 0.509
289
P RNG032 Ring Chromosome 39 0.509
290
P BCL017 B-Cell Lymphoma 59 0.509
291
STS002 Situs Inversus 45 0.509
292
P EXT030 Extraosseous Chondrosarcoma 31 0.509
293
P FBR003 Fibrous Histiocytoma 43 0.509
294
P PRS013 Prosopagnosia 36 0.509
295
CRB209 Cerebellar Malformation 23 0.509
296
IDP034 Idiopathic Central Precocious Puberty 27 0.509
297
CLF056 Cleft Lip with or Without Cleft Palate 42 0.509
298
ORF053 Orofacial Clefting Syndrome 31 0.509
299
HYP497 Hyperphalangy 14 0.509
300
LNG039 Lung Squamous Cell Carcinoma 57 0.509
301
P MYX008 Myxoid Chondrosarcoma 29 0.509
302
P RTN016 Retinal Degeneration 52 0.509
303
P CTR002 Cataract 60 0.509
304
c CRD163 Cardiofaciocutaneous Syndrome 2 37 0.509
305
P MLN007 Male Infertility 56 0.509
306
c MLG084 Malignant Fibrous Histiocytoma 62 0.509
307
c BSL007 Basal Cell Carcinoma 68 0.509
308
EXS001 Exostosis 49 0.509
309
ALT003 Alternating Exotropia 33 0.509
310
GST033 Gestational Diabetes 61 0.509
311
KRT002 Keratomalacia 55 0.509
312
TTN003 Tetanus 65 0.509
313
EXT022 Exotropia 42 0.509
314
SVR004 Severe Combined Immunodeficiency 72 0.509
315
CRB027 Cerebellar Disease 47 0.509
316
MSN004 Mesenchymal Cell Neoplasm 42 0.509
317
P LPS002 Liposarcoma 64 0.509
318
PHR003 Pharyngitis 58 0.509
319
P THR015 Thrombophilia 51 0.509
320
AMN001 Amenorrhea 54 0.509
321
P PTS002 Ptosis 52 0.509
322
P SCL048 Sclerosteosis 58 0.509
323
AZS001 Azoospermia 45 0.509
324
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.509
325
CLC006 Calcinosis 47 0.509
326
CRB037 Cerebral Palsy 67 0.509
328
RFR003 Refractive Error 41 0.509
329
HYD005 Hydrocele 46 0.509
330
DRG003 Drug Dependence 46 0.509
331
HNS001 Hansen's Disease 32 0.509
332
c RNG019 Ring Chromosome 3 19 0.509
333
PRS063 Paresthesia 39 0.509
334
CNG608 Congenital Hypopituitarism 29 0.509
335
FTL029 Fetal Thalidomide Syndrome 27 0.509
336
P CHR342 Chiari Malformation 41 0.509
337
CRN051 Craniofacial Microsomia 28 0.509
338
P OST028 Osteochondroma 45 0.509
339
c KLL006 Kallmann Syndrome 4 12 0.509
340
c KLL007 Kallmann Syndrome 5 15 0.509
341
PLG004 Plagiocephaly 40 0.509
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