Search results for shh

145 hits were found for shh

# Family MCID Name MIFTS Score
1
c HLP026 Holoprosencephaly 3 39 4.427
2
SLT005 Solitary Median Maxillary Central Incisor 36 4.267
3
P HLP001 Holoprosencephaly 67 3.883
4
P PLY006 Polydactyly 57 3.527
5
c MCR350 Microphthalmia, Isolated, with Coloboma 5 20 3.146
6
c BSL007 Basal Cell Carcinoma 66 3.092
7
P PNC035 Pancreatic Cancer 89 2.848
8
ESP020 Esophageal Atresia 54 2.774
9
SML028 Semilobar Holoprosencephaly 38 2.774
10
SMT004 Smith-Lemli-Opitz Syndrome 70 2.727
11
c SYN061 Syndactyly, Type Iv 37 2.414
12
ALB014 Alobar Holoprosencephaly 37 2.414
13
TRC040 Tracheoesophageal Fistula 47 2.390
14
NNS002 Nonspecific Interstitial Pneumonia 46 2.390
15
CLB026 Colobomatous Microphthalmia 31 2.390
16
P CLD001 Cleidocranial Dysplasia 63 2.362
17
P PLR004 Pleuropulmonary Blastoma 62 2.362
18
MCR013 Microphthalmia 61 2.362
19
c HLP023 Holoprosencephaly 1 43 2.362
20
VCT001 Vacterl Association 41 2.362
21
ATS008 Autosomal Dominant Disease 39 2.362
22
LRN006 Laurin-Sandrow Syndrome 35 2.362
23
P MDL005 Medulloblastoma 76 2.312
24
P SCH018 Schizencephaly 53 2.014
25
PNC041 Pancreatic Ductal Adenocarcinoma 67 1.962
26
BRN028 Brain Cancer 72 1.928
27
BSL036 Basal Cell Nevus Syndrome 67 1.928
28
PLL001 Pallister-Hall Syndrome 59 1.928
29
P HYD033 Hydrolethalus Syndrome 1 54 1.928
30
c ADL023 Adult Medulloblastoma 53 1.928
31
AGN012 Agnathia-Otocephaly Complex 51 1.928
32
ANS023 Anus, Imperforate 50 1.928
33
c AXN009 Axenfeld-Rieger Syndrome, Type 1 49 1.928
34
RNL078 Renal Dysplasia 49 1.928
35
c BRC078 Brachydactyly, Type A1 49 1.928
36
FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 48 1.928
37
c FTL006 Fetal Alcohol Spectrum Disorder 48 1.928
38
PTT041 Pituitary Stalk Interruption Syndrome 47 1.928
39
VLP002 Valproate Embryopathy 46 1.928
40
c BRD044 Bardet-Biedl Syndrome 17 46 1.928
41
CNT007 Central Nervous System Tuberculosis 46 1.928
42
HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45 1.928
43
TTH032 Tooth Size 44 1.928
44
CHR211 Chromosome 18p Deletion Syndrome 43 1.928
45
c SPN305 Spinocerebellar Ataxia 11 43 1.928
46
CHN065 Choanal Atresia, Posterior 43 1.928
47
KRT063 Keratocystic Odontogenic Tumor 43 1.928
48
PHY002 Physical Disorder 42 1.928
49
ACH001 Acheiropody 40 1.928
50
MXL016 Maxillonasal Dysplasia, Binder Type 39 1.928
51
c HLP029 Holoprosencephaly 4 38 1.928
52
ACR041 Acromelic Frontonasal Dysostosis 38 1.928
53
INF039 Infratentorial Cancer 38 1.928
54
GST028 Gastric Squamous Cell Carcinoma 37 1.928
55
c HYP507 Hypotrichosis 1 37 1.928
56
END059 Endocrine-Cerebroosteodysplasia 33 1.928
57
P INT283 Integumentary System Cancer 33 1.928
58
c CNG031 Congenital Nervous System Abnormality 30 1.928
59
DSS006 Disuse Amblyopia 29 1.928
60
GST017 Gastric Tubular Adenocarcinoma 29 1.928
61
DDN002 Duodenal Gastrinoma 29 1.928
62
P XLN161 X-Linked Chondrodysplasia Punctata 29 1.928
63
MLS013 Miles-Carpenter Syndrome 28 1.928
64
c PLY148 Polydactyly, Preaxial Ii 32 1.492
65
P JBR020 Joubert Syndrome 1 68 1.440
66
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 31 1.440
67
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36 1.407
68
LBR025 Lobar Holoprosencephaly 36 1.407
69
MCR173 Microform Holoprosencephaly 34 1.407
70
SPT016 Septopreoptic Holoprosencephaly 31 1.407
71
c ACQ050 Acquired Schizencephaly 18 1.407
72
PLY091 Polydactyly of a Triphalangeal Thumb, Unilateral 14 1.407
73
PLY092 Polydactyly of a Triphalangeal Thumb, Bilateral 14 1.407
74
RDL017 Radial Hemimelia, Bilateral 13 1.407
75
RDL018 Radial Hemimelia, Unilateral 13 1.407
76
ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6 1.407
77
PNC033 Pancreas Adenocarcinoma 63 1.364
78
NRV006 Nervous System Cancer 61 1.364
79
CLB010 Coloboma of Macula 52 1.364
80
P ORF002 Orofacial Cleft 41 1.364
81
P PNC044 Pancreatitis 64 0.147
82
NRN002 Neuronitis 43 0.104
83
P THY032 Thyroiditis 56 0.090
84
c BSL024 Basal Cell Carcinoma 1 42 0.090
85
c PLY149 Polydactyly, Preaxial Iv 27 0.090
86
P PRS040 Prostate Cancer 88 0.074
87
GLB002 Glioblastoma 74 0.074
88
P SLP006 Sleep Apnea 65 0.074
89
P THY109 Thyroid Cancer, Nonmedullary, 1 64 0.074
90
CLF027 Cleft Palate, Isolated 61 0.074
91
P GLM045 Glioma 61 0.074
92
PRS047 Prostatitis 59 0.074
93
P BRC006 Brachydactyly 57 0.074
94
RTN023 Retinitis 52 0.074
95
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.074
96
P HPT023 Hepatocellular Carcinoma 94 0.052
97
MYL069 Myeloma, Multiple 86 0.052
98
P MYC007 Myocardial Infarction 81 0.052
99
P HRT032 Heart Disease 80 0.052
100
P BLD134 Bladder Cancer 78 0.052
101
ISC006 Ischemic Heart Disease 73 0.052
102
P NRB001 Neuroblastoma 73 0.052
103
P LYM118 Lymphoma 71 0.052
104
P ADN016 Adenocarcinoma 71 0.052
105
P PNM007 Pneumonia 70 0.052
106
DWN001 Down Syndrome 70 0.052
107
P CRN018 Coronary Artery Anomaly 69 0.052
108
CRB039 Cerebrovascular Disease 68 0.052
109
LNG099 Lung Disease 67 0.052
110
APN008 Apnea, Obstructive Sleep 67 0.052
111
P KDN017 Kidney Cancer 66 0.052
112
ISC004 Ischemia 66 0.052
113
P HRS035 Hirschsprung Disease 1 64 0.052
114
P ESP024 Esophagitis 64 0.052
115
P ART021 Arteriosclerosis 62 0.052
116
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.052
117
P MCK013 Meckel Syndrome, Type 1 62 0.052
118
P RHB003 Rhabdomyosarcoma 61 0.052
119
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.052
120
SLP005 Sleep Disorder 59 0.052
121
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.052
122
P CRN300 Coronary Heart Disease 1 57 0.052
123
c RHB024 Rhabdomyosarcoma 2 56 0.052
124
BLR001 Biliary Atresia 56 0.052
125
CHR005 Chorioamnionitis 52 0.052
126
SPL004 Splenic Marginal Zone Lymphoma 52 0.052
127
P OMP004 Omphalocele 51 0.052
128
c HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 51 0.052
129
ART140 Arteries, Anomalies of 51 0.052
130
AML029 Ameloblastoma 51 0.052
131
HYP077 Hypertrichosis 49 0.052
132
P ENC008 Encephalocele 48 0.052
133
CLP005 Ciliopathy 46 0.052
134
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 0.052
135
CRR002 Currarino Syndrome 41 0.052
136
CMB021 Combined Pituitary Hormone Deficiency 37 0.052
137
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 36 0.052
138
NDL005 Nodular Medulloblastoma 33 0.052
139
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.052
140
SRN002 Sirenomelia 33 0.052
141
CLC010 Calcifying Epithelial Odontogenic Tumor 31 0.052
142
XP2002 Xp22.13p22.2 Duplication Syndrome 23 0.052
143
ACR019 Acropectoral Syndrome 22 0.052
144
XQ1001 Xq12-Q13.3 Duplication Syndrome 20 0.052
145
RDL037 Radial Ray Deficiency, X-Linked 12 0.052
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