Search results for chd7

366 hits were found for chd7

# Family MCID Name MIFTS Score
1
CHR103 Charge Syndrome 66 100.542
2
c KLL007 Kallmann Syndrome 5 15 60.911
3
c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 46 55.177
4
P KLL001 Kallmann Syndrome 65 53.964
5
CHD009 Chd7 Disorder 9 26.167
6
P SCL018 Scoliosis 57 25.928
7
CLB010 Coloboma of Macula 53 24.721
8
P HYP730 Hypogonadotropic Hypogonadism 53 23.842
9
HYP080 Hypogonadism 50 22.864
10
CHN065 Choanal Atresia, Posterior 48 22.559
11
P HRT032 Heart Disease 81 20.271
12
P HYP086 Hypothyroidism 69 19.866
13
P MYP006 Myopia 56 19.568
14
WDM004 Wiedemann-Steiner Syndrome 48 15.017
15
OMN001 Omenn Syndrome 63 14.997
16
IDP070 Idiopathic Scoliosis 42 14.690
17
c SCL049 Scoliosis, Isolated 3 17 13.210
18
P ATR001 Atrioventricular Septal Defect 55 12.327
19
P VNT002 Ventricular Septal Defect 58 12.327
20
P SNS001 Sensorineural Hearing Loss 59 12.008
21
CNG562 Congenital Hypogonadotropic Hypogonadism 33 11.865
22
c BRN108 Branchiootic Syndrome 1 62 11.552
23
MCR013 Microphthalmia 60 11.532
24
ESP020 Esophageal Atresia 60 11.464
25
P MCR010 Microcephaly 60 11.134
26
RTN123 Retinochoroidal Coloboma 18 10.639
27
P ATR010 Atrial Heart Septal Defect 58 10.633
28
P HYP024 Hypoparathyroidism 55 10.524
29
PYL006 Pyloric Stenosis 48 10.131
30
DSS008 Disease of Mental Health 74 10.004
31
DGR001 Digeorge Syndrome 62 9.832
32
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45 9.809
33
RFR003 Refractive Error 41 9.661
34
CRY035 Cryptorchidism, Unilateral or Bilateral 58 9.529
35
P NNN008 Noonan Syndrome 1 77 9.294
36
3MC003 3mc Syndrome 49 8.800
37
PTR032 Peters-Plus Syndrome 63 8.792
38
BRN028 Brain Cancer 74 8.792
39
HRT011 Heart Septal Defect 49 8.770
40
P PTN014 Patent Ductus Arteriosus 1 59 8.308
41
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 8.243
42
VLC001 Velocardiofacial Syndrome 57 8.154
43
PTT041 Pituitary Stalk Interruption Syndrome 54 8.058
44
P DNR001 Duane Retraction Syndrome 53 7.830
45
P STR020 Strabismus 56 7.804
46
P KBK002 Kabuki Syndrome 1 65 7.722
47
P RNL100 Renal Hypodysplasia/aplasia 1 63 7.636
48
INT276 Interatrial Communication 51 7.556
49
c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46 7.424
50
P TTR001 Tetralogy of Fallot 69 7.339
51
VCT001 Vacterl Association 47 7.220
52
P TRC072 Treacher Collins Syndrome 1 62 6.927
53
c MCR241 Microphthalmia, Syndromic 3 55 6.927
54
c VSC019 Vesicoureteral Reflux 1 57 6.927
55
P FNG006 Feingold Syndrome 1 62 6.719
56
ESP029 Esophageal Atresia/tracheoesophageal Fistula 34 6.719
57
P OPT048 Opitz-Gbbb Syndrome 49 6.719
58
P STS008 Sotos Syndrome 1 60 6.719
59
PPL048 Papillorenal Syndrome 58 6.719
60
P TWN003 Townes-Brocks Syndrome 55 6.719
61
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 45 6.719
62
P WRD001 Waardenburg's Syndrome 60 6.719
63
P CRN015 Cornelia De Lange Syndrome 67 6.719
64
c SPN364 Spinocerebellar Ataxia, X-Linked 3 38 6.217
65
c SPN363 Spinocerebellar Ataxia, X-Linked 4 35 6.217
66
P RTN008 Retinitis Pigmentosa 80 6.217
67
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 6.217
68
CHR222 Chromosome 1p36 Deletion Syndrome 45 6.217
69
ANS023 Anus, Imperforate 56 6.217
70
TCL025 T-Cell Immunodeficiency with Thymic Aplasia 42 6.217
71
RSP023 Rasopathy 53 6.217
72
PHY002 Physical Disorder 41 6.217
73
P ORF002 Orofacial Cleft 43 6.217
74
MWT001 Mowat-Wilson Syndrome 55 6.217
75
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 6.217
76
P ANR048 Aniridia 1 64 6.217
77
EST005 Esotropia 43 6.217
78
P BRN006 Branchiootorenal Syndrome 50 6.217
79
NSD001 Nose Disease 45 6.217
80
NSL022 Nasal Cavity Disease 32 6.217
81
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 5.813
82
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57 5.612
83
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25 5.476
84
CLF001 Cleft Lip 53 5.368
85
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 4.355
86
CLF004 Cleft Lip/palate 57 4.013
87
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 3.703
88
c ATS007 Autism Spectrum Disorder 72 3.514
89
CLF027 Cleft Palate, Isolated 64 3.320
90
c HLP023 Holoprosencephaly 1 56 3.106
91
PNS014 Penis Agenesis 36 2.963
92
P CRB045 Cerebellar Hypoplasia 40 2.934
93
GLB002 Glioblastoma 67 2.909
94
LYM027 Lymphopenia 56 2.806
95
P MYP004 Myopathy 67 2.710
96
P NRB001 Neuroblastoma 66 2.671
97
P PNC035 Pancreatic Cancer 86 2.546
98
P MDL005 Medulloblastoma 75 2.535
99
c DNR003 Duane Retraction Syndrome 1 37 2.449
100
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 2.419
101
P USH001 Usher Syndrome 64 2.419
102
GST092 Gastroesophageal Reflux 61 2.348
103
c LKM061 Leukemia, Acute Myeloid 83 2.348
104
P SCL057 Scoliosis, Isolated 1 40 2.348
105
P MYL006 Myeloid Leukemia 61 2.348
106
P HYP098 Hypereosinophilic Syndrome 66 2.348
107
GRW007 Growth Hormone Deficiency 46 2.274
108
SPN186 Spinal Cord Injury 61 2.274
109
FRY006 Fryns Microphthalmia Syndrome 52 2.274
110
PRP016 Paraplegia 52 2.196
111
c HRD010 Hereditary Spastic Paraplegia 66 2.196
112
P INF032 Infertility 57 2.196
113
END057 Endometrial Cancer 72 2.115
114
SVR004 Severe Combined Immunodeficiency 72 2.115
115
ART030 Aortic Arch Interruption 25 2.115
116
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.029
117
AZS001 Azoospermia 45 2.029
119
DYS073 Dysphagia 53 2.029
120
P LRY029 Laryngomalacia 48 1.984
121
GRG001 Greig Cephalopolysyndactyly Syndrome 64 1.937
122
CMB007 Combined Immunodeficiency 57 1.937
123
P HYP265 Hypotonia 42 1.937
124
P ATS364 Autism 69 1.845
125
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 54 1.839
126
P MLN007 Male Infertility 56 1.839
127
PTS001 Patau Syndrome 56 1.839
128
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 1.796
129
c CLR087 Colorectal Cancer 12 34 1.796
130
GST103 Gastric Cancer, Hereditary Diffuse 68 1.796
131
SML009 Small Intestine Adenocarcinoma 57 1.796
132
EXP004 Exophthalmos 51 1.732
133
SPP007 Suppression Amblyopia 38 1.732
134
AMB002 Amblyopia 50 1.732
135
c SPR162 Spermatogenic Failure 50 42 1.732
136
TTN003 Tetanus 65 1.732
137
OLG001 Oligospermia 45 1.732
138
HMP009 Haemophilus Influenzae 41 1.732
139
c FNC032 Fanconi Anemia, Complementation Group B 48 1.613
140
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.613
141
KRT006 Keratoconjunctivitis 53 1.613
142
PST092 Posttransplant Acute Limbic Encephalitis 28 1.613
143
AMN001 Amenorrhea 54 1.613
144
KRT001 Keratoconjunctivitis Sicca 50 1.613
145
AGN006 Agnathia-Microstomia-Synotia 10 1.613
146
HRS011 Horseshoe Kidney 31 1.613
147
ISL019 Isolated Duane Retraction Syndrome 21 1.613
148
P HYP083 Hypopituitarism 52 1.587
149
MCH006 Mechanical Strabismus 40 1.587
150
PTT001 Pituitary Hypoplasia 34 1.505
151
c RTN041 Retinitis Pigmentosa 11 42 1.479
152
P HYP077 Hypertrichosis 46 1.479
153
P OTS001 Otosclerosis 49 1.479
154
BLP006 Blepharoconjunctivitis 33 1.479
155
PRM013 Premature Menopause 58 1.339
156
SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 53 1.319
157
MRF001 Marfan Syndrome 76 1.319
158
OTT002 Otitis Media 71 1.319
159
SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 47 1.319
160
UMB002 Umbilical Hernia 47 1.319
161
c HRM006 Hermansky-Pudlak Syndrome 3 44 1.319
162
P TRT019 Torticollis 47 1.319
163
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 1.319
164
P ALP008 Alopecia 54 1.319
165
MDD010 Middle Ear Disease 46 1.319
166
CLB009 Coloboma of Iris 25 1.319
167
SPT006 Septooptic Dysplasia 62 1.229
168
ORF053 Orofacial Clefting Syndrome 31 1.229
169
c KLL008 Kallmann Syndrome 6 12 1.229
170
P BRC006 Brachydactyly 51 1.122
171
ADN018 Adenoma 59 1.122
172
HYP056 Hypoglycemia 65 1.122
173
RGH006 Right Aortic Arch 29 1.003
174
ALL003 Allergic Rhinitis 67 1.003
175
c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28 1.003
176
c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37 1.003
177
P GST053 Gastric Cancer 83 1.003
178
VTR016 Vater/vacterl Association 49 1.003
179
DRG024 Drug Allergy 40 1.003
180
GLL048 Glial Tumor 52 1.003
181
FDL002 Food Allergy 47 1.003
182
PLY012 Polyhydramnios 46 1.003
183
FCL012 Facial Paralysis 49 1.003
184
P HYP040 Hypospadias 51 1.003
185
P RHN004 Rhinitis 57 1.003
186
P PTS002 Ptosis 52 1.003
187
KRT008 Keratopathy 46 1.003
188
ABR001 Aberrant Subclavian Artery 22 1.003
189
GLM045 Glioma 63 1.003
190
8Q1001 8q12 Microduplication Syndrome 15 0.911
191
CRB159 Cerebral Visual Impairment 34 0.869
192
WLD004 Wildervanck Syndrome 28 0.869
193
P SCH015 Schizophrenia 74 0.869
194
LCR013 Lacrimal Duct Defect 40 0.869
195
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 51 0.869
196
HYP748 Hypertelorism 46 0.869
197
MCR103 Microtia 44 0.869
198
P PNT019 Pontocerebellar Hypoplasia 46 0.869
199
BLP005 Blepharitis 50 0.869
200
47X002 47,xyy 48 0.869
201
DYS018 Dysostosis 44 0.869
202
ASP007 Aspiration Pneumonia 49 0.869
203
DRY001 Dry Eye Syndrome 50 0.869
204
P HYP050 Hyperinsulinemic Hypoglycemia 57 0.869
205
HYP060 Hyperinsulinism 54 0.869
206
CHR178 Chromosomal Triplication 34 0.869
207
RHB011 Rhabdoid Tumor Predisposition Syndrome 2 28 0.803
208
VLV047 Volvulus of Midgut 52 0.772
209
ABR009 Abruzzo-Erickson Syndrome 45 0.772
210
LWC002 Lowe Oculocerebrorenal Syndrome 68 0.772
211
ADL002 Adult Syndrome 70 0.772
212
IST006 Isotretinoin Syndrome 20 0.772
213
DMP001 Dumping Syndrome 43 0.772
214
P PRM011 Primary Ciliary Dyskinesia 69 0.710
215
IMM154 Immunoglobulin a Deficiency 1 46 0.710
216
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.710
217
IMM167 Immune Deficiency Disease 78 0.710
218
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59 0.710
219
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.710
220
c RTS003 Ritscher-Schinzel Syndrome 1 43 0.710
221
ERM002 Ear Malformation 36 0.710
222
IMM068 Immunodeficiency 8 31 0.710
223
P MSC003 Muscular Atrophy 52 0.710
224
P TRN016 Transient Hypogammaglobulinemia 32 0.710
225
c DLT002 Dilated Cardiomyopathy 78 0.710
226
P AGM001 Agammaglobulinemia 68 0.710
227
HYD002 Hydronephrosis 58 0.710
228
P RTS001 Ritscher-Schinzel Syndrome 33 0.710
229
P PLY011 Polycystic Ovary Syndrome 57 0.710
230
PTT009 Pituitary Gland Disease 53 0.710
231
P ADL010 Adult Respiratory Distress Syndrome 71 0.710
232
NRN004 Neuroendocrine Tumor 59 0.710
233
MND005 Mondini Dysplasia 17 0.710
234
P PRC019 Precocious Puberty 47 0.710
235
c CNT075 Central Precocious Puberty 53 0.710
236
c BRT024 Bartter Syndrome Type 4 25 0.710
237
c KLL006 Kallmann Syndrome 4 12 0.710
238
CLN015 Colon Adenocarcinoma 65 0.656
239
BRS099 Breast Ductal Carcinoma 61 0.656
240
P PLY006 Polydactyly 59 0.610
241
P DBT009 Diabetes Mellitus 67 0.610
242
P BRS047 Breast Cancer 98 0.517
243
P CLR023 Colorectal Cancer 100 0.517
244
CLL010 Cellular Ependymoma 57 0.517
245
P LNG032 Lung Cancer 98 0.502
246
c WLF013 Wolfram Syndrome 1 60 0.502
247
FML304 Familial Isolated Dilated Cardiomyopathy 49 0.502
248
P SYN140 Syndrome with 46,xy Disorder of Sex Development 20 0.502
249
MTB016 Metabolic Myopathy 30 0.502
250
MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 20 0.502
251
P BLD134 Bladder Cancer 79 0.502
252
c ORF037 Orofaciodigital Syndrome I 59 0.502
253
c OTP006 Otopalatodigital Syndrome, Type I 60 0.502
254
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 0.502
255
AND002 Androgen Insensitivity Syndrome 63 0.502
256
P FRG001 Fragile X Syndrome 70 0.502
257
FCL009 Focal Dermal Hypoplasia 64 0.502
258
BRT054 Brittle Bone Disorder 74 0.502
259
OVR029 Ovarian Hyperstimulation Syndrome 63 0.502
260
HMF006 Hemifacial Microsomia 55 0.502
261
P MRR011 Mirror Movements 1 50 0.502
262
P ALG028 Alagille Syndrome 1 73 0.502
263
c CRN139 Cornelia De Lange Syndrome 1 61 0.502
264
P MLT020 Multiple Sclerosis 79 0.502
265
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.502
266
SYR010 Syringomyelia, Noncommunicating Isolated 36 0.502
267
P OTF004 Otofaciocervical Syndrome 1 41 0.502
268
c CHR579 Chiari Malformation Type Ii 44 0.502
269
HYD038 Hydrops Fetalis, Nonimmune 59 0.502
270
P LYS001 Loeys-Dietz Syndrome 65 0.502
271
c MJR022 Major Affective Disorder 8 38 0.502
272
TTH002 Tooth Agenesis 61 0.502
273
c 46X055 46,xy Sex Reversal 3 40 0.502
274
PRT251 Proteinuria, Chronic Benign 57 0.502
275
HMN047 Human Cytomegalovirus Infection 57 0.502
276
P CTN015 Cutaneous T Cell Lymphoma 48 0.502
277
P LYM033 Lymphoproliferative Syndrome 59 0.502
278
NKC002 Nk Cell Deficiency 31 0.502
279
P MYF003 Myofibrillar Myopathy 49 0.502
280
c FNC043 Fanconi Anemia, Complementation Group E 62 0.502
281
P JRV004 Jervell and Lange-Nielsen Syndrome 1 56 0.502
282
P FNC044 Fanconi Anemia, Complementation Group C 56 0.502
283
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.502
284
HYP212 Hypomandibular Faciocranial Dysostosis 23 0.502
285
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.502
286
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.502
287
c CHR320 Chiari Malformation Type I 46 0.502
288
P PRD006 Prader-Willi Syndrome 61 0.502
289
BSM002 Bosma Arhinia Microphthalmia Syndrome 44 0.502
290
PHL006 Phelan-Mcdermid Syndrome 60 0.502
291
AST006 Astigmatism 47 0.502
292
HRT030 Hartsfield Syndrome 46 0.502
293
c MJR024 Major Affective Disorder 9 41 0.502
295
c FML117 Familial Cold Autoinflammatory Syndrome 2 41 0.502
296
CHR385 Chromosome 2q31.2 Deletion Syndrome 10 0.502
297
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.502
298
HYP780 Hypoadrenocorticism, Familial 61 0.502
299
BTT016 Batten-Turner Congenital Myopathy 53 0.502
300
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 0.502
301
CHR619 Chromosome 2q35 Duplication Syndrome 64 0.502
302
PLM070 Pulmonic Stenosis 49 0.502
303
c SML038 Small Cell Cancer of the Lung 69 0.502
304
c HYP836 Hypercholesterolemia, Familial, 1 73 0.502
305
CMR002 Coumarin Resistance 59 0.502
306
P MYP087 Myopathy, Tubular Aggregate, 1 49 0.502
307
ACH004 Achondroplasia 66 0.502
308
DNR002 Duane-Radial Ray Syndrome 54 0.502
309
NRD024 Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart 32 0.502
310
GST019 Gastrointestinal Stromal Tumor 78 0.502
311
ATN021 Autoinflammatory Syndrome 32 0.502
312
P FML052 Familial Cold Autoinflammatory Syndrome 59 0.502
313
P VNW001 Von Willebrand's Disease 65 0.502
314
P HLP001 Holoprosencephaly 69 0.502
315
P MSC005 Muscular Dystrophy 67 0.502
316
IDP034 Idiopathic Central Precocious Puberty 27 0.502
317
P EPL164 Epilepsy 68 0.502
318
P BPL003 Bipolar Disorder 56 0.502
319
P CNG001 Congenital Myasthenic Syndrome 68 0.502
320
NRM005 Neuromuscular Disease 63 0.502
321
P CTR002 Cataract 60 0.502
322
HLX001 Helix Syndrome 48 0.502
323
c MNT334 Mental Retardation, Autosomal Dominant 57 27 0.502
324
P GRF003 Graft-Versus-Host Disease 71 0.502
325
ANS004 Anisometropia 31 0.502
326
P FCL005 Focal Segmental Glomerulosclerosis 57 0.502
327
P LTR001 Lateral Sclerosis 58 0.502
328
BRX001 Bruxism 51 0.502
329
P DMN001 Diamond-Blackfan Anemia 71 0.502
330
P MLN008 Melanoma 76 0.502
331
THR004 Thrombocytosis 53 0.502
332
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 0.502
333
P END044 Endometriosis 62 0.502
334
ALT003 Alternating Exotropia 33 0.502
335
P HYD006 Hydrocephalus 61 0.502
336
P MNN007 Meningocele 39 0.502
337
TCL003 T Cell Deficiency 44 0.502
338
EXT022 Exotropia 42 0.502
339
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 0.502
340
P TRT010 Teratoma 51 0.502
341
P SYR001 Syringomyelia 47 0.502
342
MSN004 Mesenchymal Cell Neoplasm 42 0.502
343
P THR015 Thrombophilia 51 0.502
344
c FML021 Familial Hypercholesterolemia 72 0.502
345
c CNG513 Congenital Ptosis 42 0.502
346
ISL001 Islet Cell Tumor 56 0.502
347
P DSR090 Disorder of Sexual Development 44 0.502
348
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.502
349
PLM033 Pulmonary Embolism 58 0.502
350
STX004 Stxbp1 Encephalopathy with Epilepsy 15 0.502
351
HYD005 Hydrocele 46 0.502
352
c PSD047 Pseudo-Turner Syndrome 52 0.502
355
SX2004 Sox2 Disorder 13 0.502
356
P SCK005 Sickle Cell Disease 56 0.502
357
PRS063 Paresthesia 39 0.502
358
SPC022 Specific Antibody Deficiency 25 0.502
359
CNG069 Congenital Cytomegalovirus 51 0.502
360
P ADT009 Auditory Neuropathy Spectrum Disorder 34 0.502
361
CNG608 Congenital Hypopituitarism 29 0.502
362
P HYD015 Hydroa Vacciniforme 22 0.502
363
P CHR342 Chiari Malformation 41 0.502
364
CRN051 Craniofacial Microsomia 28 0.502
365
P ENC008 Encephalocele 46 0.502
366
MSC020 Mosaic Trisomy 8 32 0.502
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