Search results for shh

135 hits were found for shh

# Family MCID Name MIFTS Score
1
c SHH003 Shh-Related Holoprosencephaly 10 9.216
2
c FML302 Familial Schizencephaly, Shh-Related 20 8.378
3
c HLP012 Holoprosencephaly-3 39 4.427
4
SNG010 Single Median Maxillary Central Incisor 52 4.265
5
P HLP001 Holoprosencephaly 63 4.123
6
P PLY006 Polydactyly 56 3.735
7
c BSL007 Basal Cell Carcinoma 65 3.578
8
P PNC035 Pancreatic Cancer 87 3.348
9
c MCR127 Microphthalmia with Coloboma 5 19 3.330
10
SML028 Semilobar Holoprosencephaly 37 3.273
11
ESP020 Esophageal Atresia 50 3.251
12
SMT004 Smith-Lemli-Opitz Syndrome 66 3.228
13
P SCH018 Schizencephaly 52 2.979
14
c SYN061 Syndactyly, Type Iv 37 2.937
15
ALB014 Alobar Holoprosencephaly 35 2.937
16
P SYN001 Syndactyly 53 2.913
17
NNS002 Nonspecific Interstitial Pneumonia 45 2.913
18
TRC040 Tracheoesophageal Fistula 45 2.913
19
CLB026 Colobomatous Microphthalmia 29 2.913
20
P PLR004 Pleuropulmonary Blastoma 65 2.887
21
P CLD001 Cleidocranial Dysplasia 62 2.887
22
P MDL005 Medulloblastoma 77 2.874
23
TRP015 Triphalangeal Thumb 27 2.622
24
c PLY058 Polydactyly, Preaxial Type Ii 27 2.556
25
PNC041 Pancreatic Ductal Adenocarcinoma 64 2.530
26
LBR025 Lobar Holoprosencephaly 34 2.530
27
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 2.530
28
SPT016 Septopreoptic Holoprosencephaly 29 2.530
29
HYP591 Hypoplastic or Aplastic Tibia with Polydactyly 29 2.530
30
PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14 2.530
31
PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 13 2.530
32
RDL017 Radial Hemimelia, Bilateral 13 2.530
33
RDL018 Radial Hemimelia, Unilateral 13 2.530
34
BSL036 Basal Cell Nevus Syndrome 65 2.500
35
P CNG015 Congenital Diaphragmatic Hernia 60 2.500
36
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 2.500
37
PLL001 Pallister-Hall Syndrome 55 2.500
38
AGN012 Agnathia-Otocephaly Complex 53 2.500
39
c ADL023 Adult Medulloblastoma 51 2.500
40
VTR016 Vater/vacterl Association 46 2.500
41
ACH001 Acheiropody 46 2.500
42
ACR041 Acromelic Frontonasal Dysostosis 45 2.500
43
c BRC078 Brachydactyly, Type A1 45 2.500
44
PHY002 Physical Disorder 43 2.500
45
c FTL006 Fetal Alcohol Spectrum Disorder 43 2.500
46
INF039 Infratentorial Cancer 42 2.500
47
BMF001 Bamforth-Lazarus Syndrome 42 2.500
48
PTT041 Pituitary Stalk Interruption Syndrome 42 2.500
49
c SPN305 Spinocerebellar Ataxia 11 42 2.500
50
ATS008 Autosomal Dominant Disease 39 2.500
51
KRT063 Keratocystic Odontogenic Tumor 39 2.500
52
CHR211 Chromosome 18p Deletion Syndrome 38 2.500
53
c CNG031 Congenital Nervous System Abnormality 37 2.500
54
GST028 Gastric Squamous Cell Carcinoma 37 2.500
55
CHN065 Choanal Atresia, Posterior 35 2.500
56
VLP001 Valproate Embryopathy, Susceptibility to 35 2.500
57
P INT283 Integumentary System Cancer 33 2.500
58
DDN002 Duodenal Gastrinoma 33 2.500
59
LRN006 Laurin-Sandrow Syndrome 31 2.500
60
GST017 Gastric Tubular Adenocarcinoma 31 2.500
61
MXL016 Maxillonasal Dysplasia, Binder Type 28 2.500
62
P XLN161 X-Linked Chondrodysplasia Punctata 26 2.500
63
c JBR020 Joubert Syndrome 1 60 2.041
64
P NRV006 Nervous System Cancer 60 2.041
65
P HYD011 Hydrolethalus Syndrome 51 2.041
66
c AXN009 Axenfeld-Rieger Syndrome, Type 1 47 2.041
67
c BRD044 Bardet-Biedl Syndrome 17 44 2.041
68
c HLP013 Holoprosencephaly-4 39 2.041
69
c HYP507 Hypotrichosis 1 38 2.041
70
MLS013 Miles-Carpenter Syndrome 28 2.041
71
END059 Endocrine-Cerebroosteodysplasia 27 2.041
72
DSS006 Disuse Amblyopia 26 2.041
73
c HLP023 Holoprosencephaly 1 25 2.041
74
18P001 18p Deletion Syndrome 22 2.041
75
RDL022 Radial Hemimelia 20 2.041
76
ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6 1.489
77
P PNC044 Pancreatitis 61 0.157
78
NRN002 Neuronitis 41 0.111
79
P THY032 Thyroiditis 54 0.096
80
P PRS040 Prostate Cancer 90 0.079
81
P GLB002 Glioblastoma 68 0.079
82
P SLP006 Sleep Apnea 61 0.079
83
P GLM045 Glioma 60 0.079
84
PRS047 Prostatitis 56 0.079
85
P BRC006 Brachydactyly 54 0.079
86
RTN023 Retinitis 50 0.079
87
P HPT023 Hepatocellular Carcinoma 92 0.056
88
P MLT019 Multiple Myeloma 83 0.056
89
P PLM037 Pulmonary Hypertension 79 0.056
90
P MYC007 Myocardial Infarction 79 0.056
91
P HRT032 Heart Disease 75 0.056
92
STR067 Stroke, Ischemic 75 0.056
93
P CRN211 Coronary Artery Disease 74 0.056
94
P NRB001 Neuroblastoma 70 0.056
95
P ADN016 Adenocarcinoma 69 0.056
96
P LYM118 Lymphoma 69 0.056
97
c HYP595 Hypertension, Essential 69 0.056
98
PRP027 Peripheral Vascular Disease 68 0.056
99
ISC006 Ischemic Heart Disease 68 0.056
100
P PNM007 Pneumonia 68 0.056
101
OBS061 Obstructive Sleep Apnea 66 0.056
102
DWN001 Down Syndrome 66 0.056
103
P KDN017 Kidney Cancer 65 0.056
104
P RBN001 Rubinstein-Taybi Syndrome 64 0.056
105
LNG099 Lung Disease 64 0.056
106
CRB039 Cerebrovascular Disease 63 0.056
107
P ESP024 Esophagitis 61 0.056
108
WLL006 Wells Syndrome 59 0.056
109
RSP006 Respiratory System Disease 58 0.056
110
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.056
111
RHB003 Rhabdomyosarcoma 57 0.056
112
WST001 West Syndrome 57 0.056
113
SLP005 Sleep Disorder 53 0.056
114
OPT037 Optic Nerve Hypoplasia 52 0.056
115
BLR001 Biliary Atresia 52 0.056
116
OMP004 Omphalocele 50 0.056
117
P ENC008 Encephalocele 48 0.056
118
CHR005 Chorioamnionitis 48 0.056
119
AML029 Ameloblastoma 46 0.056
120
CRB004 Cerebral Artery Occlusion 45 0.056
121
GDS001 Good Syndrome 44 0.056
122
SPL004 Splenic Marginal Zone Lymphoma 44 0.056
123
c CNT015 Central Sleep Apnea 44 0.056
124
HYP077 Hypertrichosis 44 0.056
125
c BSL024 Basal Cell Carcinoma 1 42 0.056
126
BRN080 Brain Ischemia 41 0.056
127
CLP005 Ciliopathy 38 0.056
128
CMB021 Combined Pituitary Hormone Deficiency 37 0.056
129
NDL005 Nodular Medulloblastoma 36 0.056
130
CRR002 Currarino Syndrome 35 0.056
131
SRN002 Sirenomelia 29 0.056
132
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.056
133
CRB031 Cerebral Arterial Disease 27 0.056
134
CRB087 Cerebral Arteriosclerosis 21 0.056
135
ACR019 Acropectoral Syndrome 18 0.056
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