Search results for "hamartoma"

The MalaCard for "hamartoma" has been retired.
Searching MalaCards for entries containing "hamartoma"

369 hits were found for 'hamartoma'

# Family MCID Name MIFTS Score
1
HYP231 Hypothalamic Hamartomas 49 5.063
2
HPT028 Hepatic Cystic Hamartoma 11 4.688
3
PTN006 Pten Hamartoma Tumor Syndrome 38 4.540
4
c CWD001 Cowden Disease 72 4.157
5
GNT022 Giant Mammary Hamartoma 5 4.006
6
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 16 3.980
7
HYP277 Hypothalamic Hamartomas, Somatic 13 3.951
8
CNG248 Congenital Smooth Muscle Hamartoma 15 3.356
9
ANG032 Angiomatous Lymphoid Hamartoma 9 3.250
10
ANG033 Angiomyomatous Hamartoma 9 3.215
11
GNR022 Generalized Basaloid Follicular Hamartoma Syndrome 15 3.139
12
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 3.126
13
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 3.112
14
BSL013 Basaloid Follicular Hamartoma 16 2.875
15
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 13 2.792
16
PTZ001 Peutz-Jeghers Syndrome 78 2.601
17
P CWD006 Cowden Syndrome 1 58 2.588
18
CPL006 Capillary Hemangioma 58 2.558
19
LNR002 Linear Hamartoma Syndrome 2 2.522
20
GRH002 Graham Boyle Troxell Syndrome 11 2.499
21
FLL043 Follicular Hamartoma - Alopecia - Cystic Fibrosis 3 2.499
22
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 3 2.499
23
LNR012 Linear Verrucous Nevus Syndrome 14 1.797
24
EPD037 Epidermal Nevus 56 1.767
25
ORS001 Orstavik Lindemann Solberg Syndrome 4 1.767
26
P PRC019 Precocious Puberty 60 0.231
27
P PLL001 Pallister-Hall Syndrome 71 0.153
28
P TBR001 Tuberous Sclerosis 86 0.149
29
RTN023 Retinitis 54 0.144
30
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.144
31
SRC014 Sarcoma 70 0.135
32
c CNT075 Central Precocious Puberty 46 0.130
33
P HMN010 Hemangioma 71 0.125
34
P BSL007 Basal Cell Carcinoma 67 0.125
35
SYN053 Syndromic Diarrhea 34 0.125
36
P NRF002 Neurofibromatosis 94 0.114
37
c HPT021 Hepatitis 64 0.114
38
EMB007 Embryonal Sarcoma 49 0.114
39
ADN018 Adenoma 66 0.108
40
NRN002 Neuronitis 44 0.108
41
ACN002 Acanthosis Nigricans 63 0.102
42
P ATX010 Ataxia Neuropathy Spectrum 43 0.102
43
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 0.088
44
P PLY006 Polydactyly 57 0.088
45
c MSN006 Mesenchymoma 42 0.088
46
ANK002 Ankylosing Spondylitis 77 0.081
47
P ANG001 Angelman Syndrome 70 0.081
48
c PNC044 Pancreatitis 69 0.081
49
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.081
50
P BCK002 Beckwith-Wiedemann Syndrome 68 0.081
51
ART019 Aortic Valve Stenosis 64 0.081
52
P PLR004 Pleuropulmonary Blastoma 57 0.081
53
BLS003 Blastoma 54 0.081
54
BLD033 Bile Duct Adenoma 49 0.081
55
CHR469 Choristoma 28 0.081
56
TRC052 Trichofolliculoma 19 0.081
57
P ATX002 Ataxia Telangiectasia 87 0.072
58
CHL065 Cholangiocarcinoma 69 0.072
59
c THY032 Thyroiditis 66 0.072
60
P WLM002 Wilms Tumor 66 0.072
61
P RNL014 Renal Cell Carcinoma 64 0.072
62
GNG013 Gingivitis 61 0.072
63
P CRP001 Carpal Tunnel Syndrome 57 0.072
64
DDN006 Duodenitis 56 0.072
65
ART001 Arterial Tortuosity Syndrome 55 0.072
66
AND003 Andersen-Tawil Syndrome 54 0.072
67
P CLF002 Cleft Palate 52 0.072
68
TBR022 Tuberous Sclerosis Complex 52 0.072
69
HYP077 Hypertrichosis 50 0.072
70
IMP002 Imperforate Anus 48 0.072
71
c GGN002 Gigantism 48 0.072
72
EPL002 Epilepsy Syndrome 46 0.072
73
P MNN007 Meningocele 41 0.072
74
CRB009 Cerebritis 39 0.072
75
AND002 Androgen Insensitivity Syndrome 80 0.062
76
P HYD006 Hydrocephalus 68 0.062
77
HPT022 Hepatoblastoma 62 0.062
78
P PRT008 Proteus Syndrome 61 0.062
79
P ADN016 Adenocarcinoma 59 0.062
80
CHN010 Chondroma 59 0.062
81
P SNS014 Sinusitis 58 0.062
82
CHR008 Choroiditis 54 0.062
83
GNG004 Ganglioglioma 54 0.062
84
LNN001 Lennox-Gastaut Syndrome 54 0.062
85
MCR013 Microphthalmia 54 0.062
86
THR013 Thoracic Outlet Syndrome 52 0.062
87
P SZR006 Seizure Disorder 51 0.062
88
NSP002 Nasopharyngitis 48 0.062
89
RVL002 Ruvalcaba Syndrome 46 0.062
90
PRT093 Proteus Syndrome, Somatic 45 0.062
91
P RTN008 Retinitis Pigmentosa 86 0.051
92
P BRS047 Breast Cancer 86 0.051
93
P GST019 Gastrointestinal Stromal Tumor 83 0.051
94
P MDL005 Medulloblastoma 80 0.051
95
SKN016 Skin Disease 75 0.051
96
P AST007 Astrocytoma 74 0.051
97
P PRM005 Primary Hyperparathyroidism 71 0.051
98
ATS001 Autistic Disorder 71 0.051
99
P CNG368 Congenital Adrenal Hyperplasia 70 0.051
100
RNL002 Renal Agenesis 70 0.051
101
KLP002 Klippel-Trenaunay Syndrome 69 0.051
102
c AXN002 Axenfeld-Rieger Syndrome 67 0.051
103
HYP020 Hyperprolactinemia 67 0.051
104
PPL022 Papilloma 66 0.051
105
ULC004 Ulcerative Colitis 65 0.051
106
c SCL016 Scleroderma 65 0.051
107
c HYP069 Hyperparathyroidism 65 0.051
108
P LRY019 Laryngitis 65 0.051
109
LPM004 Lipoma 65 0.051
110
HMH002 Hemihypertrophy 64 0.051
111
CLT003 Colitis 64 0.051
112
DFC004 Deficiency Anemia 63 0.051
113
c KDN018 Kidney Disease 63 0.051
114
P ESN007 Eosinophilia 63 0.051
115
ARC007 Arachnoid Cysts 62 0.051
116
P PPL005 Papillary Renal Cell Carcinoma 61 0.051
117
ANG020 Angiosarcoma 60 0.051
118
CLF001 Cleft Lip 60 0.051
119
c TRT010 Teratoma 59 0.051
120
INT051 Intussusception 59 0.051
121
RTN025 Retinoschisis 59 0.051
122
MCK005 Mckusick-Kaufman Syndrome 58 0.051
123
P CRV039 Cervicitis 58 0.051
124
NRF007 Neurofibroma 58 0.051
125
P PLC011 Pilocytic Astrocytoma 57 0.051
126
c CTR002 Cataract 57 0.051
127
HMM003 Hemimegalencephaly 55 0.051
128
NPH011 Nephroblastoma 55 0.051
129
PLY012 Polyhydramnios 54 0.051
130
PPL021 Papilledema 54 0.051
131
GRW007 Growth Hormone Deficiency 52 0.051
132
GNG005 Gangliocytoma 52 0.051
133
MNT147 Mental Retardation 52 0.051
134
P CYS016 Cystic Kidney 51 0.051
135
END072 Endotheliitis 51 0.051
136
FBR009 Fibrous Dysplasia 51 0.051
137
c SYN001 Syndactyly 51 0.051
138
RFR010 Refractory Anemia 50 0.051
139
c MSB002 Mesoblastic Nephroma 50 0.051
140
SKN023 Skin Tag 49 0.051
141
GNG002 Ganglioneuroma 49 0.051
142
P CNG029 Congenital Mesoblastic Nephroma 48 0.051
143
c RNL078 Renal Dysplasia 48 0.051
144
BRS051 Breast Disease 47 0.051
145
c AML002 Amelogenesis Imperfecta 47 0.051
146
MYK002 Myokymia 46 0.051
147
NRM004 Neuroma 46 0.051
148
HMN016 Hemangioendothelioma 46 0.051
149
ANG016 Angiokeratoma 45 0.051
150
c HYP263 Hypersomnia 45 0.051
151
ARC002 Arachnoiditis 44 0.051
152
OPT037 Optic Nerve Hypoplasia 44 0.051
153
AGN013 Agenesis of the Corpus Callosum 44 0.051
154
UND001 Undifferentiated Embryonal Sarcoma of the Liver 44 0.051
155
HYP022 Hypohidrosis 43 0.051
156
PLN006 Poland Syndrome 41 0.051
157
INV006 Inverted Papilloma 40 0.051
158
CRB045 Cerebellar Hypoplasia 40 0.051
159
INT079 Intrahepatic Cholangiocarcinoma 40 0.051
160
GST064 Gastric Outlet Obstruction 39 0.051
161
c JVN009 Juvenile Pilocytic Astrocytoma 36 0.051
162
ENP001 Enophthalmos 36 0.051
163
ODN006 Odontoma 32 0.051
164
MYF001 Myofibroma 29 0.051
165
EPD046 Epididymitis 29 0.051
166
c ORF009 Orofaciodigital Syndrome 4 28 0.051
167
P PLY034 Polydactyly Preaxial Type 4 27 0.051
168
EST004 Estrogen Excess 27 0.051
169
INF028 Infundibulocystic Basal Cell Carcinoma 16 0.051
170
MCH008 Michelin Tire Baby Syndrome 14 0.051
171
CYS001 Cystic Fibrosis 97 0.036
172
P SYS001 Systemic Lupus Erythematosus 88 0.036
173
P LFR001 Li-Fraumeni Syndrome 88 0.036
174
GLC006 Galactosemia 86 0.036
175
P ALG002 Alagille Syndrome 81 0.036
176
P LNG032 Lung Cancer 79 0.036
177
P MYS003 Myasthenia Gravis 78 0.036
178
c LPS004 Lupus Erythematosus 77 0.036
179
P JVN014 Juvenile Polyposis Syndrome 76 0.036
180
21H001 21-Hydroxylase Deficiency 74 0.036
181
P LYM007 Lymphangioleiomyomatosis 74 0.036
182
c DBT009 Diabetes Mellitus 74 0.036
183
c PRM002 Primary Hyperoxaluria 74 0.036
184
P EPD002 Epidermolytic Hyperkeratosis 72 0.036
185
PRT036 Peritonitis 72 0.036
186
WST001 West Syndrome 71 0.036
187
P KDN017 Kidney Cancer 70 0.036
188
P CNG401 Congenital Heart Disease 69 0.036
189
P LVR013 Liver Disease 69 0.036
190
LMY002 Leiomyoma 69 0.036
191
NRL016 Neural Tube Defects 68 0.036
192
DRM014 Dermatofibrosarcoma Protuberans 68 0.036
193
CLB001 Coloboma 68 0.036
194
c AMY001 Amyotrophic Lateral Sclerosis 67 0.036
195
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 0.036
196
P TRN020 Turner Syndrome 67 0.036
197
CHR072 Chordoma 66 0.036
198
STT001 Status Epilepticus 66 0.036
199
P SYS005 Systemic Scleroderma 66 0.036
200
P OST001 Osteopetrosis 66 0.036
201
P MLN008 Melanoma 65 0.036
202
BRN028 Brain Cancer 65 0.036
203
P PCH001 Pachyonychia Congenita 64 0.036
204
c HLP001 Holoprosencephaly 64 0.036
205
P HST010 Histiocytosis 64 0.036
206
P OLG002 Oligodendroglioma 64 0.036
207
c INT070 Intestinal Obstruction 63 0.036
208
CRY002 Cryptorchidism 63 0.036
209
LRN003 Learning Disability 63 0.036
210
ANR002 Aniridia 62 0.036
211
P LMY004 Leiomyosarcoma 62 0.036
212
ART031 Aortic Coarctation 62 0.036
213
P DDN001 Duodenal Ulcer 62 0.036
214
P CNJ013 Conjunctivitis 62 0.036
215
HYD012 Hydrops Fetalis 62 0.036
216
GLD001 Goldenhar Syndrome 62 0.036
217
WLL003 Williams Syndrome 61 0.036
218
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.036
219
SPH001 Sapho Syndrome 60 0.036
220
CRT002 Cartilage-Hair Hypoplasia 60 0.036
221
MRG003 Marginal Zone B-Cell Lymphoma 59 0.036
222
RHB003 Rhabdomyosarcoma 59 0.036
223
ISL001 Islet Cell Tumor 59 0.036
224
MYC002 Mycobacterium Avium Complex Disease 59 0.036
225
NRN001 Neuroendocrine Carcinoma 59 0.036
226
HYP063 Hypersplenism 59 0.036
227
NRL005 Neurilemmoma 58 0.036
228
P SDR002 Siderosis 58 0.036
229
IRN001 Iron Deficiency Anemia 57 0.036
230
ALP008 Alopecia 57 0.036
231
P BCL006 B-Cell Lymphomas 57 0.036
232
BRT002 Birt-Hogg-Dube Syndrome 57 0.036
233
PTN002 Patent Ductus Arteriosus 57 0.036
234
c HYP060 Hyperinsulinism 57 0.036
235
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.036
236
MYL003 Myeloid Sarcoma 56 0.036
237
OSS001 Ossifying Fibroma 56 0.036
238
MRK001 Merkel Cell Carcinoma 56 0.036
239
MCR088 Microscopic Polyangiitis 56 0.036
240
c ACR001 Aicardi-Goutieres Syndrome 54 0.036
241
LYM022 Lymphangioma 54 0.036
242
PNC053 Pancreatic Islet Cell Tumors 54 0.036
243
P JVN003 Juvenile Xanthogranuloma 53 0.036
244
GYR001 Gyrate Atrophy 53 0.036
245
c INF016 Infantile Epileptic Encephalopathy 53 0.036
246
c HYD002 Hydronephrosis 52 0.036
247
c ORF001 Orofaciodigital Syndrome 52 0.036
248
ANG018 Angiomyolipoma 52 0.036
249
JVN033 Juvenile Nasopharyngeal Angiofibroma 52 0.036
250
P PND001 Pain Disorder 52 0.036
251
CRN014 Cronkhite-Canada Syndrome 52 0.036
252
ANR009 Aneurysmal Bone Cysts 51 0.036
253
MNN014 Mononeuritis 51 0.036
254
WBR001 Weber Syndrome 51 0.036
255
OBS001 Obstructive Jaundice 51 0.036
256
P CST002 Castleman's Disease 51 0.036
257
STT007 Steatocystoma Multiplex 51 0.036
258
MLK003 Melkersson-Rosenthal Syndrome 51 0.036
259
CYS009 Cystadenoma 51 0.036
260
PLX002 Plexiform Neurofibroma 50 0.036
261
LBL001 Lobular Neoplasia 50 0.036
262
CRN055 Carney Triad 50 0.036
263
c LRG001 Large Cell Carcinoma 49 0.036
264
CHL004 Cholelithiasis 48 0.036
265
SYR002 Syringocystadenoma Papilliferum 48 0.036
266
c EPL003 Epulis 47 0.036
267
SCH016 Schimke Immunoosseous Dysplasia 47 0.036
268
FBR019 Fibromatosis 47 0.036
269
FBR054 Fibroma 47 0.036
270
MCR019 Microglandular Adenosis 46 0.036
271
SMT002 Smooth Muscle Tumor 46 0.036
272
ANR040 Aneurysm 46 0.036
273
P CYS007 Cystic Nephroma 46 0.036
274
EVN001 Evans' Syndrome 46 0.036
275
CMP034 Complete Androgen Insensitivity Syndrome 46 0.036
276
GYN001 Gynecomastia 46 0.036
277
MGL013 Megalencephaly 45 0.036
278
MYC033 Myoclonus 45 0.036
279
HPT006 Hepatic Angiomyolipoma 45 0.036
280
CRP018 Cor Pulmonale 45 0.036
281
PPL006 Papillon-Lefevre Disease 44 0.036
282
EPT011 Epithelioid Leiomyosarcoma 44 0.036
283
OBS004 Obstructive Hydrocephalus 43 0.036
284
HMF004 Hemifacial Spasm 43 0.036
285
c HYP087 Hypotrichosis 42 0.036
286
TTR016 Tetra-Amelia Syndrome 42 0.036
287
ORL010 Oral-Facial-Digital Syndrome Type I 42 0.036
288
P CNG004 Congenital Epulis 42 0.036
289
DYS048 Dysplasia Epiphysealis Hemimelica 41 0.036
290
HYP265 Hypotonia 41 0.036
291
BLR015 Blue Rubber Bleb Nevus Syndrome 41 0.036
292
MCK002 Meckel's Diverticulum 41 0.036
293
SKN005 Skin Atrophy 41 0.036
294
GST071 Gastrointestinal Carcinoma 40 0.036
295
ADN064 Adenohypophysitis 40 0.036
296
EPD053 Epidermal Nevus, Somatic 39 0.036
297
SPN012 Spindle Cell Hemangioma 39 0.036
298
P ORF011 Orofaciodigital Syndrome 6 39 0.036
299
SCL017 Sclerosing Hemangioma 39 0.036
300
SPR066 Superficial Siderosis 38 0.036
301
ANG037 Angiomatosis 38 0.036
302
RNL025 Renal Hypoplasia 38 0.036
303
BRN016 Bronchogenic Carcinoma 38 0.036
304
BRN055 Bronchogenic Cyst 38 0.036
305
LYM095 Lymphangiomatosis 38 0.036
306
ASP008 Aspiration Pneumonitis 37 0.036
307
FTD001 Foot Drop 37 0.036
308
MLT107 Multilocular Cystic Renal Cell Carcinoma 36 0.036
309
ADS002 Adie Syndrome 35 0.036
310
CLC011 Cloacal Exstrophy 34 0.036
311
DPH006 Diaphragmatic Eventration 34 0.036
312
c CLD003 Cold-Induced Sweating Syndrome 34 0.036
313
GRD002 Gardner Syndrome 33 0.036
314
PLM018 Pulmonary Sclerosing Hemangioma 33 0.036
315
FCL003 Facial Hemiatrophy 32 0.036
316
c MNS008 Monosomy 21 32 0.036
317
GNG015 Gingival Fibromatosis with Hypertrichosis 31 0.036
318
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 31 0.036
319
LVR014 Liver Sarcoma 30 0.036
320
GST039 Gastroduodenitis 30 0.036
321
BSC004 Buschke Ollendorff Syndrome 29 0.036
322
CBB002 Cobb Syndrome 29 0.036
323
ANG004 Angioid Streaks 29 0.036
324
c ORF012 Orofaciodigital Syndrome 8 28 0.036
325
HNM002 Hinman Syndrome 28 0.036
326
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 28 0.036
327
SPR032 Superficial Siderosis of the Central Nervous System 28 0.036
328
IRN002 Iron Metabolism Disease 28 0.036
329
ACR037 Acromegaloid Facial Appearance Syndrome 27 0.036
330
P CLD010 Cold-Induced Sweating Syndrome 1 27 0.036
331
DDN009 Duodenal Obstruction 27 0.036
332
NRC006 Neurocutaneous Melanosis 27 0.036
333
DRM005 Dermoid Cyst of Ovary 26 0.036
334
c PRC047 Precocious Puberty, Central, 1 26 0.036
335
P MLT049 Multiple Familial Trichoepithelioma 1 25 0.036
336
LNR005 Linear Scleroderma 25 0.036
337
c ORF008 Orofaciodigital Syndrome 3 24 0.036
338
PNL023 Penile Agenesis 23 0.036
339
OCC007 Occult Spinal Dysraphism 23 0.036
340
ART030 Aortic Arch Interruption 23 0.036
341
TBR003 Tuberculous Epididymitis 23 0.036
342
EPG004 Epignathus 23 0.036
343
P CTS012 Cutis Verticis Gyrata 23 0.036
344
c BNG076 Benign Exophthalmos Syndrome 22 0.036
345
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.036
346
P PSD086 Pseudoarthrosis 22 0.036
347
c PCH012 Pachyonychia Congenita 2 21 0.036
348
PSD008 Pseudopapilledema 21 0.036
349
AND005 Androgen Insensitivity Syndrome, Mild 21 0.036
350
MYX007 Myxosarcoma 20 0.036
351
NVS012 Nevus Comedonicus Syndrome 20 0.036
352
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.036
353
ADN025 Adenoameloblastoma 19 0.036
354
STR029 Sternal Cleft 18 0.036
355
INF048 Infantile Histiocytoid Cardiomyopathy 16 0.036
356
P JVN002 Juvenile Type Testicular Granulosa Cell Tumor 16 0.036
357
P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 16 0.036
358
GLF001 Gliofibroma 16 0.036
359
MLN009 Melanotic Neurilemmoma 14 0.036
360
c CNG120 Congenital Pseudoarthrosis 14 0.036
361
PNS014 Penis Agenesis 13 0.036
362
INT049 Intrahepatic Bile Duct Adenoma 13 0.036
363
FBR015 Fibroepithelial Basal Cell Carcinoma 13 0.036
364
ANG024 Angiofollicular Lymph Hyperplasia 13 0.036
365
BLD035 Bile Duct Cystadenoma 12 0.036
366
c PCH010 Pachyonychia Congenita 3 10 0.036
367
c PCH011 Pachyonychia Congenita 4 10 0.036
368
MCR034 Macrodactyly of the Foot 10 0.036
369
ABS002 Absence of Gluteal Muscle 6 0.036