Search results for chd7

128 hits were found for chd7

# Family MCID Name MIFTS Score
1
CHR103 Charge Syndrome 66 8.229
2
P KLL001 Kallmann Syndrome 64 5.010
3
c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 45 4.366
4
P HYP730 Hypogonadotropic Hypogonadism 53 3.590
5
P SCL018 Scoliosis 60 3.501
6
c KLL007 Kallmann Syndrome 5 13 3.292
7
HYP080 Hypogonadism 50 3.259
8
P HRT032 Heart Disease 75 3.095
9
P MYP006 Myopia 55 3.095
10
CLB010 Coloboma of Macula 53 2.780
11
P HYP086 Hypothyroidism 68 2.720
12
IDP070 Idiopathic Scoliosis 37 2.698
13
c SCL049 Scoliosis, Isolated 3 18 2.295
14
P ATR001 Atrioventricular Septal Defect 55 2.229
15
OMN001 Omenn Syndrome 66 2.203
16
P SNS001 Sensorineural Hearing Loss 61 2.203
17
ESP020 Esophageal Atresia 62 2.173
18
c AMY091 Amyotrophic Lateral Sclerosis 1 89 2.138
19
PFF001 Pfeiffer Syndrome 79 2.138
20
P NNN008 Noonan Syndrome 1 76 2.138
21
BRN028 Brain Cancer 73 2.138
22
LNG039 Lung Squamous Cell Carcinoma 65 2.138
23
MCR013 Microphthalmia 60 2.138
24
RFR003 Refractive Error 44 2.138
25
CHN065 Choanal Atresia, Posterior 50 2.038
26
c CNG562 Congenital Hypogonadotropic Hypogonadism 30 1.649
27
RTN123 Retinochoroidal Coloboma 20 1.649
28
DGR001 Digeorge Syndrome 63 1.623
29
c RRH009 Rare Hypothyroidism 23 1.623
30
P ATR010 Atrial Heart Septal Defect 60 1.593
31
P PTN014 Patent Ductus Arteriosus 1 60 1.593
32
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 40 1.593
33
CRY035 Cryptorchidism, Unilateral or Bilateral 59 1.558
34
HRT011 Heart Septal Defect 50 1.558
35
P DNR001 Duane Retraction Syndrome 49 1.558
36
P RTN008 Retinitis Pigmentosa 77 1.512
37
P TTR001 Tetralogy of Fallot 69 1.512
38
P KBK002 Kabuki Syndrome 1 67 1.512
39
P TRC072 Treacher Collins Syndrome 1 66 1.512
40
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 64 1.512
41
P CRN015 Cornelia De Lange Syndrome 63 1.512
42
c VSC019 Vesicoureteral Reflux 1 59 1.512
43
P STR020 Strabismus 56 1.512
44
PPL048 Papillorenal Syndrome 55 1.512
45
P TWN003 Townes-Brocks Syndrome 55 1.512
46
ANS023 Anus, Imperforate 55 1.512
47
P FNG006 Feingold Syndrome 1 55 1.512
48
NSD001 Nose Disease 46 1.512
49
P BRN006 Branchiootorenal Syndrome 45 1.512
50
VCT001 Vacterl Association 44 1.512
51
P ORF002 Orofacial Cleft 43 1.512
52
PHY002 Physical Disorder 42 1.512
53
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 37 1.512
54
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 36 1.512
55
ESP029 Esophageal Atresia/tracheoesophageal Fistula 36 1.512
56
NSL022 Nasal Cavity Disease 33 1.512
57
LCH003 Lichen Nitidus 30 1.512
58
c DFN162 Deafness, Autosomal Dominant 59 29 1.512
59
SBC005 Subacute Lymphocytic Thyroiditis 26 1.512
60
c BRN108 Branchiootic Syndrome 1 61 0.298
61
HYP064 Hypogonadotropism 40 0.200
62
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26 0.147
63
CLF001 Cleft Lip 53 0.136
64
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58 0.124
65
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.124
66
CLF004 Cleft Lip/palate 54 0.111
67
c ATS007 Autism Spectrum Disorder 67 0.096
68
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.096
69
P CRB045 Cerebellar Hypoplasia 37 0.096
70
P PNC035 Pancreatic Cancer 84 0.078
71
CLF027 Cleft Palate, Isolated 64 0.078
72
LYM027 Lymphopenia 57 0.078
73
c HLP023 Holoprosencephaly 1 53 0.078
74
PYL006 Pyloric Stenosis 48 0.078
75
INT276 Interatrial Communication 42 0.078
76
c DNR003 Duane Retraction Syndrome 1 41 0.078
77
P PRS040 Prostate Cancer 97 0.055
78
c LKM061 Leukemia, Acute Myeloid 83 0.055
79
P MDL005 Medulloblastoma 77 0.055
80
MRF001 Marfan Syndrome 75 0.055
81
GLB015 Glioblastoma Multiforme 75 0.055
82
SVR004 Severe Combined Immunodeficiency 73 0.055
83
OTT002 Otitis Media 71 0.055
84
GRG001 Greig Cephalopolysyndactyly Syndrome 67 0.055
85
P HYP098 Hypereosinophilic Syndrome 66 0.055
86
c HRD010 Hereditary Spastic Paraplegia 66 0.055
87
GST092 Gastroesophageal Reflux 65 0.055
88
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.055
89
TTN003 Tetanus 64 0.055
90
SPN186 Spinal Cord Injury 60 0.055
91
P VNT002 Ventricular Septal Defect 60 0.055
92
P USH001 Usher Syndrome 59 0.055
93
P PLY006 Polydactyly 58 0.055
94
P ALP008 Alopecia 56 0.055
95
P HYP024 Hypoparathyroidism 55 0.055
96
VLC001 Velocardiofacial Syndrome 54 0.055
97
FRY006 Fryns Microphthalmia Syndrome 54 0.055
98
AMN001 Amenorrhea 54 0.055
99
PRP016 Paraplegia 53 0.055
100
KRT006 Keratoconjunctivitis 53 0.055
101
EXP004 Exophthalmos 52 0.055
102
CMB003 Combined T Cell and B Cell Immunodeficiency 52 0.055
103
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 51 0.055
104
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.055
105
P HYP077 Hypertrichosis 50 0.055
106
SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 50 0.055
107
P OTS001 Otosclerosis 50 0.055
108
AMB002 Amblyopia 50 0.055
109
KRT001 Keratoconjunctivitis Sicca 50 0.055
110
PTS001 Patau Syndrome 49 0.055
111
RTN187 Retinitis Pigmentosa-Deafness Syndrome 47 0.055
112
P TRT019 Torticollis 47 0.055
113
SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 47 0.055
114
UMB002 Umbilical Hernia 47 0.055
115
MDD010 Middle Ear Disease 46 0.055
116
LRY029 Laryngomalacia 45 0.055
117
GRW007 Growth Hormone Deficiency 43 0.055
118
HMP009 Haemophilus Influenzae 42 0.055
119
P HYP265 Hypotonia 42 0.055
120
c RTN041 Retinitis Pigmentosa 11 41 0.055
121
SPP007 Suppression Amblyopia 39 0.055
122
BLP006 Blepharoconjunctivitis 38 0.055
123
PST092 Posttransplant Acute Limbic Encephalitis 29 0.055
124
ART030 Aortic Arch Interruption 27 0.055
125
ISL019 Isolated Duane Retraction Syndrome 22 0.055
127
RRT002 Rare Tumor of Pancreas 17 0.055
128
8Q1001 8q12 Microduplication Syndrome 16 0.055
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