Search results for shh

137 hits were found for shh

# Family MCID Name MIFTS Score
1
c SHH003 Shh-Related Holoprosencephaly 10 8.563
2
c FML302 Familial Schizencephaly, Shh-Related 20 6.837
3
c HLP026 Holoprosencephaly 3 40 4.395
4
P HLP001 Holoprosencephaly 65 4.091
5
SNG010 Single Median Maxillary Central Incisor 45 3.990
6
P PLY006 Polydactyly 54 3.705
7
c BSL007 Basal Cell Carcinoma 64 3.247
8
P PNC035 Pancreatic Cancer 84 2.992
9
ESP020 Esophageal Atresia 50 2.913
10
SML028 Semilobar Holoprosencephaly 36 2.913
11
SMT004 Smith-Lemli-Opitz Syndrome 69 2.863
12
TRP015 Triphalangeal Thumb 27 2.601
13
P MCR127 Microphthalmia with Coloboma 5 20 2.601
14
c SYN061 Syndactyly, Type Iv 38 2.535
15
ALB014 Alobar Holoprosencephaly 34 2.535
16
TRC040 Tracheoesophageal Fistula 46 2.509
17
NNS002 Nonspecific Interstitial Pneumonia 44 2.509
18
CLB026 Colobomatous Microphthalmia 28 2.509
19
P CLD001 Cleidocranial Dysplasia 62 2.480
20
MCR013 Microphthalmia 59 2.480
21
P PLR004 Pleuropulmonary Blastoma 58 2.480
22
CLB001 Coloboma 54 2.480
23
ATS008 Autosomal Dominant Disease 40 2.480
24
VCT001 Vacterl Association 40 2.480
25
c HLP023 Holoprosencephaly 1 38 2.480
26
LRN006 Laurin-Sandrow Syndrome 33 2.480
27
P MDL005 Medulloblastoma 73 2.433
28
P SCH018 Schizencephaly 52 2.139
29
PNC041 Pancreatic Ductal Adenocarcinoma 62 2.060
30
BRN028 Brain Cancer 67 2.025
31
BSL036 Basal Cell Nevus Syndrome 67 2.025
32
P CNG015 Congenital Diaphragmatic Hernia 60 2.025
33
PLL001 Pallister-Hall Syndrome 56 2.025
34
P HYD011 Hydrolethalus Syndrome 53 2.025
35
RNL078 Renal Dysplasia 50 2.025
36
c ADL023 Adult Medulloblastoma 49 2.025
37
c AXN009 Axenfeld-Rieger Syndrome, Type 1 49 2.025
38
AGN012 Agnathia-Otocephaly Complex 48 2.025
39
c BRC078 Brachydactyly, Type A1 47 2.025
40
c BRD044 Bardet-Biedl Syndrome 17 45 2.025
41
c HLP024 Holoprosencephaly 2 45 2.025
42
FHR001 Fuhrmann Syndrome 45 2.025
43
c SPN305 Spinocerebellar Ataxia 11 44 2.025
44
PTT041 Pituitary Stalk Interruption Syndrome 44 2.025
45
INF039 Infratentorial Cancer 43 2.025
46
c HYP507 Hypotrichosis 1 43 2.025
47
PHY002 Physical Disorder 43 2.025
48
c FTL006 Fetal Alcohol Spectrum Disorder 43 2.025
49
BMF001 Bamforth-Lazarus Syndrome 42 2.025
50
c HLP029 Holoprosencephaly 4 40 2.025
51
CHR211 Chromosome 18p Deletion Syndrome 40 2.025
52
KRT063 Keratocystic Odontogenic Tumor 39 2.025
53
c CNG031 Congenital Nervous System Abnormality 39 2.025
54
GST028 Gastric Squamous Cell Carcinoma 39 2.025
55
ACH001 Acheiropody 38 2.025
56
ACR041 Acromelic Frontonasal Dysostosis 37 2.025
57
VLP001 Valproate Embryopathy, Susceptibility to 37 2.025
58
DDN002 Duodenal Gastrinoma 33 2.025
59
MLS013 Miles-Carpenter Syndrome 31 2.025
60
END059 Endocrine-Cerebroosteodysplasia 31 2.025
61
MXL016 Maxillonasal Dysplasia, Binder Type 30 2.025
62
GST017 Gastric Tubular Adenocarcinoma 30 2.025
63
P INT283 Integumentary System Cancer 30 2.025
64
P XLN161 X-Linked Chondrodysplasia Punctata 26 2.025
65
DSS006 Disuse Amblyopia 25 2.025
66
c PLY058 Polydactyly, Preaxial Type Ii 28 1.513
67
LBR025 Lobar Holoprosencephaly 34 1.478
68
MCR173 Microform Holoprosencephaly 31 1.478
69
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 1.478
70
SPT016 Septopreoptic Holoprosencephaly 29 1.478
71
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 26 1.478
72
PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14 1.478
73
PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 13 1.478
74
RDL017 Radial Hemimelia, Bilateral 12 1.478
75
RDL018 Radial Hemimelia, Unilateral 12 1.478
76
ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6 1.478
77
c JBR020 Joubert Syndrome 1 61 1.432
78
P NRV006 Nervous System Cancer 59 1.432
79
PNC033 Pancreas Adenocarcinoma 56 1.432
80
P PNC044 Pancreatitis 60 0.157
81
NRN002 Neuronitis 39 0.111
82
P THY032 Thyroiditis 53 0.096
83
P PRS040 Prostate Cancer 88 0.078
84
P GLB002 Glioblastoma 66 0.078
85
P SLP006 Sleep Apnea 60 0.078
86
P GLM045 Glioma 59 0.078
87
P BRC006 Brachydactyly 55 0.078
88
PRS047 Prostatitis 55 0.078
89
RTN023 Retinitis 49 0.078
90
P HPT023 Hepatocellular Carcinoma 89 0.055
91
P MLT019 Multiple Myeloma 82 0.055
92
P MYC007 Myocardial Infarction 77 0.055
93
P HRT032 Heart Disease 75 0.055
94
P CRN211 Coronary Artery Disease 73 0.055
95
P NRB001 Neuroblastoma 71 0.055
96
DWN001 Down Syndrome 69 0.055
97
P ADN016 Adenocarcinoma 69 0.055
98
P LYM118 Lymphoma 69 0.055
99
THY028 Thyroid Cancer 68 0.055
100
P PNM007 Pneumonia 66 0.055
101
P KDN017 Kidney Cancer 65 0.055
102
OBS061 Obstructive Sleep Apnea 65 0.055
103
CRB039 Cerebrovascular Disease 63 0.055
104
LNG099 Lung Disease 61 0.055
105
RSP006 Respiratory System Disease 60 0.055
106
c CNT035 Central Nervous System Disease 60 0.055
107
P MDL022 Medullary Thyroid Carcinoma, Familial 60 0.055
108
ISC004 Ischemia 59 0.055
109
P ESP024 Esophagitis 59 0.055
110
WST001 West Syndrome 58 0.055
111
RHB003 Rhabdomyosarcoma 58 0.055
112
WLL006 Wells Syndrome 58 0.055
113
ART021 Arteriosclerosis 57 0.055
114
ART111 Artery Disease 55 0.055
115
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.055
116
SLP005 Sleep Disorder 54 0.055
117
ISC006 Ischemic Heart Disease 53 0.055
118
OMP004 Omphalocele 51 0.055
119
BLR001 Biliary Atresia 51 0.055
120
OPT037 Optic Nerve Hypoplasia 51 0.055
121
GNG002 Ganglioneuroma 48 0.055
122
HYP077 Hypertrichosis 48 0.055
123
P ENC008 Encephalocele 48 0.055
124
CHR005 Chorioamnionitis 47 0.055
125
AML029 Ameloblastoma 47 0.055
126
GDS001 Good Syndrome 46 0.055
127
c BSL024 Basal Cell Carcinoma 1 45 0.055
128
SPL004 Splenic Marginal Zone Lymphoma 44 0.055
129
c CNT015 Central Sleep Apnea 43 0.055
130
CRR002 Currarino Syndrome 41 0.055
131
CLP005 Ciliopathy 38 0.055
132
NDL005 Nodular Medulloblastoma 36 0.055
133
CMB021 Combined Pituitary Hormone Deficiency 36 0.055
134
SRN002 Sirenomelia 33 0.055
135
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.055
136
FML143 Familial Papillary Thyroid Carcinoma 27 0.055
137
ACR019 Acropectoral Syndrome 20 0.055
Content
Loading form....