Search results for shh

340 hits were found for shh

# Family MCID Name MIFTS Score
1
c HLP026 Holoprosencephaly 3 48 3.751
2
SLT005 Solitary Median Maxillary Central Incisor 49 3.478
3
P HLP001 Holoprosencephaly 67 3.181
4
P PLY006 Polydactyly 59 2.938
5
c MCR350 Microphthalmia, Isolated, with Coloboma 5 21 2.731
6
P PNC035 Pancreatic Cancer 84 2.485
7
c BSL007 Basal Cell Carcinoma 68 2.485
8
SCH018 Schizencephaly 52 2.475
9
P GST053 Gastric Cancer 83 2.345
10
MCR013 Microphthalmia 57 2.345
11
P MDL005 Medulloblastoma 77 2.302
12
ESP020 Esophageal Atresia 62 2.087
13
P PRS040 Prostate Cancer 97 2.072
14
P MCR010 Microcephaly 59 2.072
15
SML028 Semilobar Holoprosencephaly 44 2.072
16
LRN006 Laurin-Sandrow Syndrome 45 2.036
17
SMT004 Smith-Lemli-Opitz Syndrome 70 2.015
18
P PLY148 Polydactyly, Preaxial Ii 46 1.819
19
GLB015 Glioblastoma Multiforme 75 1.784
20
CLF027 Cleft Palate, Isolated 64 1.757
21
BRN028 Brain Cancer 74 1.743
22
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 47 1.743
23
c SYN061 Syndactyly, Type Iv 30 1.727
24
P JBR020 Joubert Syndrome 1 72 1.710
25
c HLP023 Holoprosencephaly 1 53 1.710
26
CLF001 Cleft Lip 53 1.710
27
CLB026 Colobomatous Microphthalmia 47 1.710
28
NRL016 Neural Tube Defects 82 1.692
29
P NRB001 Neuroblastoma 72 1.692
30
ACR008 Acrocallosal Syndrome 69 1.692
31
P RHB003 Rhabdomyosarcoma 63 1.692
32
c BRC078 Brachydactyly, Type A1 56 1.692
33
P BRC006 Brachydactyly 53 1.692
34
P HYP083 Hypopituitarism 53 1.692
35
ALB014 Alobar Holoprosencephaly 42 1.692
36
P ATS364 Autism 70 1.670
37
P SKN015 Skin Carcinoma 66 1.670
38
LNG039 Lung Squamous Cell Carcinoma 66 1.670
39
P CLD001 Cleidocranial Dysplasia 65 1.670
40
P HYP077 Hypertrichosis 50 1.670
41
NNS002 Nonspecific Interstitial Pneumonia 45 1.670
42
VCT001 Vacterl Association 42 1.670
43
PTT001 Pituitary Hypoplasia 34 1.670
44
PNC129 Pancreatic Adenocarcinoma 68 1.645
45
c ATS007 Autism Spectrum Disorder 67 1.645
46
P PLR004 Pleuropulmonary Blastoma 65 1.645
47
P TRT010 Teratoma 52 1.645
48
OLF005 Olfactory Neuroblastoma 48 1.645
49
AST006 Astigmatism 47 1.645
50
P CHR573 Choroid Plexus Cancer 46 1.645
51
URT004 Urethral Syndrome 38 1.645
52
GRG001 Greig Cephalopolysyndactyly Syndrome 66 1.347
53
BSL036 Basal Cell Nevus Syndrome 73 1.294
54
CHR619 Chromosome 2q35 Duplication Syndrome 62 1.278
55
NDL005 Nodular Medulloblastoma 38 1.261
56
c HLP024 Holoprosencephaly 2 49 1.243
57
c HLP028 Holoprosencephaly 5 45 1.243
58
CLB010 Coloboma of Macula 52 1.221
59
c HLP029 Holoprosencephaly 4 44 1.221
60
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 40 1.221
61
KRT063 Keratocystic Odontogenic Tumor 40 1.221
62
c MNN043 Meningioma, Familial 74 1.196
63
P TTR001 Tetralogy of Fallot 70 1.196
64
P BRD002 Bardet-Biedl Syndrome 66 1.196
65
P HRS035 Hirschsprung Disease 1 65 1.196
66
P MCK013 Meckel Syndrome, Type 1 65 1.196
67
SPT006 Septooptic Dysplasia 64 1.196
68
RHB001 Rhabdoid Cancer 63 1.196
69
ELL001 Ellis-Van Creveld Syndrome 62 1.196
70
ATY005 Atypical Teratoid Rhabdoid Tumor 61 1.196
71
TTH002 Tooth Agenesis 60 1.196
72
DNN002 Donnai-Barrow Syndrome 56 1.196
73
ANS023 Anus, Imperforate 56 1.196
74
P TWN003 Townes-Brocks Syndrome 55 1.196
75
CRR002 Currarino Syndrome 48 1.196
76
CNT033 Central Nervous System Cancer 47 1.196
77
MCR173 Microform Holoprosencephaly 44 1.196
78
DYS018 Dysostosis 44 1.196
79
c ADL023 Adult Medulloblastoma 44 1.196
80
LBR025 Lobar Holoprosencephaly 43 1.196
81
SPT016 Septopreoptic Holoprosencephaly 33 1.196
82
RDL022 Radial Hemimelia 22 1.196
83
ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5 1.196
84
P RTN008 Retinitis Pigmentosa 79 1.163
85
P LFR001 Li-Fraumeni Syndrome 72 1.163
86
APR006 Apert Syndrome 70 1.163
87
P PRM011 Primary Ciliary Dyskinesia 69 1.163
88
ODN023 Odontochondrodysplasia 68 1.163
89
CRZ001 Crouzon Syndrome 68 1.163
90
HYL004 Hyaline Fibromatosis Syndrome 67 1.163
91
CHR103 Charge Syndrome 67 1.163
92
FCL009 Focal Dermal Hypoplasia 66 1.163
93
LBR036 Leber Plus Disease 66 1.163
94
PLL001 Pallister-Hall Syndrome 64 1.163
95
DGR001 Digeorge Syndrome 64 1.163
96
c DPH024 Diaphragmatic Hernia, Congenital 63 1.163
97
P KLL001 Kallmann Syndrome 61 1.163
98
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61 1.163
99
P NPH005 Nephronophthisis 59 1.163
100
P FTL001 Fetal Alcohol Syndrome 57 1.163
101
PTS001 Patau Syndrome 55 1.163
102
P ATR001 Atrioventricular Septal Defect 55 1.163
103
FND002 Fundus Dystrophy 55 1.163
104
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 1.163
105
P CYS039 Cystic Kidney Disease 54 1.163
106
AGN012 Agnathia-Otocephaly Complex 53 1.163
107
P VSC013 Visceral Heterotaxy 52 1.163
108
P BRN035 Brain Stem Glioma 52 1.163
109
CLL036 Culler-Jones Syndrome 51 1.163
110
PTT041 Pituitary Stalk Interruption Syndrome 50 1.163
111
DDN011 Duodenal Atresia 50 1.163
112
c HLP025 Holoprosencephaly 9 50 1.163
113
ACR002 Acrocapitofemoral Dysplasia 48 1.163
114
c HLP016 Holoprosencephaly 11 47 1.163
115
SYN005 Synostosis 45 1.163
116
P ORF002 Orofacial Cleft 44 1.163
117
c FTL006 Fetal Alcohol Spectrum Disorder 43 1.163
118
SPR008 Supratentorial Primitive Neuroectodermal Tumor 43 1.163
119
PHY002 Physical Disorder 42 1.163
120
PNC118 Pancreas, Annular 42 1.163
121
CRB033 Cerebral Degeneration 42 1.163
122
BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41 1.163
123
ACH001 Acheiropody 40 1.163
124
c HYP507 Hypotrichosis 1 39 1.163
125
SPR024 Supratentorial Cancer 39 1.163
126
CRB030 Cerebellum Cancer 38 1.163
127
INF039 Infratentorial Cancer 38 1.163
128
TTH032 Tooth Size 36 1.163
129
CRB028 Cerebellar Medulloblastoma 35 1.163
130
CRP003 Corpus Callosum Lipoma 34 1.163
131
MDL003 Medullomyoblastoma 34 1.163
132
ADM001 Adamantinous Craniopharyngioma 34 1.163
133
P BND014 Bone Development Disease 33 1.163
134
MLN004 Melanotic Medulloblastoma 31 1.163
135
SKL003 Skeletal Muscle Cancer 30 1.163
136
P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 28 1.163
137
CRB034 Cerebral Hemisphere Lipoma 26 1.163
138
c CNG031 Congenital Nervous System Abnormality 24 1.163
139
BRN116 Brain Stem Medulloblastoma 19 1.163
140
c ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 16 1.163
141
BRN023 Brain Stem Ependymoma 15 1.163
142
CRB013 Cerebellar Vermis Medulloblastoma 14 1.163
143
P GLM045 Glioma 63 0.089
144
P LNG032 Lung Cancer 98 0.079
145
DWN001 Down Syndrome 70 0.079
146
SPN186 Spinal Cord Injury 60 0.079
147
LNG099 Lung Disease 60 0.079
148
P OVR082 Overgrowth Syndrome 50 0.079
149
DGN001 Degenerative Disc Disease 48 0.079
150
P CRB045 Cerebellar Hypoplasia 41 0.079
151
PLM134 Pulmonary Fibrosis, Idiopathic 77 0.069
152
P SLP006 Sleep Apnea 69 0.069
153
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.069
154
THY029 Thyroid Carcinoma 59 0.069
155
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.069
156
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 55 0.069
157
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.069
158
HLX001 Helix Syndrome 47 0.069
159
AML029 Ameloblastoma 46 0.069
160
GLL048 Glial Tumor 45 0.069
161
CRB004 Cerebral Artery Occlusion 45 0.069
162
CLP005 Ciliopathy 43 0.069
163
CHR178 Chromosomal Triplication 35 0.069
164
c PLY136 Polydactyly, Preaxial I 33 0.069
165
TTH030 Teeth, Supernumerary 33 0.069
166
EXN003 Exencephaly 31 0.069
167
SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 19 0.069
168
P BLD134 Bladder Cancer 79 0.056
169
c SPN225 Spondyloarthropathy 1 73 0.056
170
P MYC007 Myocardial Infarction 70 0.056
171
CRB039 Cerebrovascular Disease 67 0.056
172
c RHB024 Rhabdomyosarcoma 2 67 0.056
173
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66 0.056
174
c SML038 Small Cell Cancer of the Lung 65 0.056
175
CRN036 Craniopharyngioma 65 0.056
176
P PLM036 Pulmonary Fibrosis 65 0.056
177
P DYS154 Dystonia 65 0.056
178
P ADN016 Adenocarcinoma 64 0.056
179
P CRN300 Coronary Heart Disease 1 63 0.056
180
P KDN017 Kidney Cancer 60 0.056
181
INT066 Interstitial Lung Disease 60 0.056
182
SQM006 Squamous Cell Carcinoma 60 0.056
183
c OTP006 Otopalatodigital Syndrome, Type I 60 0.056
184
P BRN022 Bronchiectasis 59 0.056
185
EMB004 Embryonal Carcinoma 56 0.056
186
SPN051 Spondylitis 51 0.056
187
GNG012 Gingival Overgrowth 51 0.056
188
P ENC008 Encephalocele 47 0.056
189
c SPL067 Split-Hand/foot Malformation 1 46 0.056
190
c MLG068 Malignant Glioma 46 0.056
191
ISL121 Isolated Split Hand-Split Foot Malformation 45 0.056
192
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.056
193
INF009 Inflammatory Spondylopathy 31 0.056
194
P HPT023 Hepatocellular Carcinoma 100 0.040
195
ESP021 Esophageal Cancer 90 0.040
196
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.040
197
P OVR042 Ovarian Cancer 88 0.040
198
MYL069 Myeloma, Multiple 85 0.040
199
c HYP595 Hypertension, Essential 84 0.040
200
c FNC027 Fanconi Anemia, Complementation Group a 81 0.040
201
P GLM040 Glioma Susceptibility 1 81 0.040
202
STR067 Stroke, Ischemic 81 0.040
203
P RHM011 Rheumatoid Arthritis 80 0.040
204
INS024 Insulin-Like Growth Factor I 79 0.040
205
CRV035 Cervical Cancer 76 0.040
206
P HRT032 Heart Disease 75 0.040
207
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.040
208
P FML011 Familial Adenomatous Polyposis 72 0.040
209
c LKM063 Leukemia, Chronic Myeloid 72 0.040
210
ADL002 Adult Syndrome 70 0.040
211
EWN003 Ewing Sarcoma 69 0.040
212
P LYM118 Lymphoma 68 0.040
213
P CRN037 Craniosynostosis 68 0.040
214
P PNM007 Pneumonia 68 0.040
215
P SYS005 Systemic Scleroderma 68 0.040
216
P OLG002 Oligodendroglioma 67 0.040
217
OST159 Osteogenic Sarcoma 66 0.040
218
P HYD006 Hydrocephalus 66 0.040
219
SRC014 Sarcoma 65 0.040
220
P MTR014 Motor Neuron Disease 65 0.040
221
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 0.040
222
APN008 Apnea, Obstructive Sleep 64 0.040
223
P CMP005 Campomelic Dysplasia 64 0.040
224
P CRN015 Cornelia De Lange Syndrome 64 0.040
225
c PRC016 Pre-Eclampsia 63 0.040
226
P PTT014 Pitt-Hopkins Syndrome 63 0.040
227
P ECT006 Ectodermal Dysplasia 62 0.040
228
c BRN108 Branchiootic Syndrome 1 62 0.040
229
LPP008 Lipoprotein Quantitative Trait Locus 62 0.040
230
PHL006 Phelan-Mcdermid Syndrome 62 0.040
231
ATM095 Autoimmune Disease 62 0.040
232
MNN042 Meningioma, Radiation-Induced 62 0.040
233
P CRN108 Cranioectodermal Dysplasia 1 62 0.040
234
c WLM018 Wilms Tumor 5 61 0.040
235
P MYL006 Myeloid Leukemia 60 0.040
236
DPH001 Diphtheria 60 0.040
237
TRG002 Trigeminal Neuralgia 60 0.040
238
P BNG030 Benign Ependymoma 60 0.040
239
P VNT002 Ventricular Septal Defect 60 0.040
240
c ACT027 Acute Pancreatitis 60 0.040
241
ORL011 Oral Cancer 60 0.040
242
HYD002 Hydronephrosis 60 0.040
243
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 0.040
244
P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 59 0.040
245
GRD007 Grade Iii Astrocytoma 59 0.040
246
HLC007 Helicobacter Pylori Infection 59 0.040
247
c ACT073 Acute Leukemia 58 0.040
248
ISC004 Ischemia 58 0.040
249
CNS004 Constipation 58 0.040
250
BRN056 Bronchopulmonary Dysplasia 57 0.040
251
c CRN139 Cornelia De Lange Syndrome 1 57 0.040
252
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.040
253
c ACT075 Acute Myocardial Infarction 57 0.040
254
P CRD246 Cardiovascular System Disease 57 0.040
255
HYP266 Hypoxia 57 0.040
256
c BSL024 Basal Cell Carcinoma 1 56 0.040
257
ALL006 Allergic Asthma 56 0.040
258
OPT070 Optic Nerve Hypoplasia, Bilateral 56 0.040
259
ANN002 Anencephaly 56 0.040
260
P GST044 Gastritis 56 0.040
261
P MLN007 Male Infertility 55 0.040
262
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 55 0.040
263
SYN007 Synovitis 54 0.040
264
GNG004 Ganglioglioma 54 0.040
265
CLL010 Cellular Ependymoma 54 0.040
266
P LTR001 Lateral Sclerosis 54 0.040
267
PRS045 Prostatic Hypertrophy 53 0.040
268
P RTN016 Retinal Degeneration 53 0.040
269
SPN035 Spindle Cell Sarcoma 53 0.040
270
P RTN018 Retinal Disease 53 0.040
271
c FNC024 Fanconi Anemia, Complementation Group D1 52 0.040
272
DMY004 Demyelinating Disease 52 0.040
273
GLM004 Gliomatosis Cerebri 52 0.040
274
ART140 Arteries, Anomalies of 52 0.040
275
PRS021 Prostatic Adenoma 51 0.040
276
P AST007 Astrocytoma 51 0.040
277
P HYP040 Hypospadias 51 0.040
278
CHR005 Chorioamnionitis 51 0.040
279
SPN021 Spinal Meningioma 50 0.040
280
BLR001 Biliary Atresia 50 0.040
281
P PNB001 Pineoblastoma 50 0.040
282
P OMP004 Omphalocele 50 0.040
283
c MCK032 Meckel Syndrome, Type 3 50 0.040
284
CHL018 Childhood Medulloblastoma 49 0.040
285
PRS129 Prostatic Hyperplasia, Benign 49 0.040
286
CHN065 Choanal Atresia, Posterior 49 0.040
287
VCC001 Vaccinia 49 0.040
288
LRN003 Learning Disability 49 0.040
289
ATS010 Autosomal Recessive Disease 48 0.040
290
GNG008 Ganglioneuroblastoma 48 0.040
291
c FNC023 Fanconi Anemia, Complementation Group N 48 0.040
292
GRM005 Germ Cell Cancer 47 0.040
293
RNL077 Renal Fibrosis 47 0.040
294
ANL022 Anal Fistula 46 0.040
295
PLY012 Polyhydramnios 46 0.040
296
ANP006 Anaplastic Ependymoma 46 0.040
297
OBS004 Obstructive Hydrocephalus 46 0.040
298
P BRN006 Branchiootorenal Syndrome 46 0.040
299
BNS007 Bone Sarcoma 45 0.040
300
MXD026 Mixed Glioma 45 0.040
301
RSP021 Respiratory Allergy 45 0.040
302
PNC056 Pineocytoma 45 0.040
303
HRT030 Hartsfield Syndrome 44 0.040
304
MDL002 Medulloepithelioma 44 0.040
305
P EPN001 Ependymoblastoma 44 0.040
306
ANP009 Anaplastic Oligodendroglioma 43 0.040
307
c BRD019 Bardet-Biedl Syndrome 7 43 0.040
308
ORL015 Oral Squamous Cell Carcinoma 43 0.040
309
TRC097 Tracheomalacia 42 0.040
310
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.040
311
P SYN012 Synpolydactyly 42 0.040
312
c MLG064 Malignant Ependymoma 41 0.040
313
PLM020 Pleomorphic Xanthoastrocytoma 41 0.040
314
PNL014 Pineal Gland Cancer 41 0.040
315
SCR001 Secretory Meningioma 41 0.040
316
RDN001 Reading Disorder 40 0.040
317
INT060 Intestinal Atresia 40 0.040
318
ISL109 Isolated Cleft Lip 38 0.040
319
CRN088 Craniorachischisis 37 0.040
320
HRW001 Hair Whorl 36 0.040
321
PLC002 Plica Syndrome 36 0.040
322
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.040
323
NDL020 Nodal Marginal Zone B-Cell Lymphoma 34 0.040
324
c DNT047 Dentinogenesis Imperfecta Type 2 31 0.040
325
c CNG608 Congenital Hypopituitarism 30 0.040
326
OCC011 Occipital Encephalocele 29 0.040
327
CLC010 Calcifying Epithelial Odontogenic Tumor 29 0.040
328
SRN002 Sirenomelia 28 0.040
329
P PHC014 Phocomelia 24 0.040
330
c PLY137 Polydactyly, Preaxial Iii 21 0.040
331
ACR019 Acropectoral Syndrome 21 0.040
332
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 21 0.040
333
TRC052 Trichofolliculoma 18 0.040
334
ANP032 Anaplastic Pleomorphic Xanthoastrocytoma 16 0.040
335
c CNT108 Central Polydactyly 15 0.040
336
RDL037 Radial Ray Deficiency, X-Linked 15 0.040
337
CHR238 Chromosome 2p Duplication 15 0.040
338
CHR183 Chromosome 10q Deletion 13 0.040
339
CHR615 Chromosome 19q13.11 Deletion Syndrome, Proximal 13 0.040
340
CNG587 Congenital Limb Malformation 12 0.040
Content
Loading form....