Search results for "hamartoma"

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

373 hits were found for 'hamartoma'

# Family MCID Name MIFTS Score
1
HYP231 Hypothalamic Hamartomas 48 5.059
2
HPT028 Hepatic Cystic Hamartoma 11 4.687
3
PTN006 Pten Hamartoma Tumor Syndrome 41 4.538
4
c CWD001 Cowden Disease 71 4.156
5
GNT022 Giant Mammary Hamartoma 5 4.005
6
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 17 3.993
7
HYP277 Hypothalamic Hamartomas, Somatic 17 3.965
8
CNG248 Congenital Smooth Muscle Hamartoma 15 3.354
9
ANG032 Angiomatous Lymphoid Hamartoma 9 3.248
10
ANG033 Angiomyomatous Hamartoma 9 3.213
11
GNR022 Generalized Basaloid Follicular Hamartoma Syndrome 16 3.151
12
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 3.138
13
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 3.111
14
BSL013 Basaloid Follicular Hamartoma 16 2.873
15
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 13 2.790
16
PTZ001 Peutz-Jeghers Syndrome 77 2.600
17
P CWD006 Cowden Syndrome 1 59 2.600
18
CPL006 Capillary Hemangioma 57 2.557
19
LNR002 Linear Hamartoma Syndrome 2 2.521
20
GRH002 Graham Boyle Troxell Syndrome 12 2.498
21
FLL043 Follicular Hamartoma - Alopecia - Cystic Fibrosis 3 2.498
22
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 3 2.498
23
LNR012 Linear Verrucous Nevus Syndrome 14 1.796
24
EPD037 Epidermal Nevus 55 1.767
25
ORS001 Orstavik Lindemann Solberg Syndrome 4 1.767
26
P PRC019 Precocious Puberty 59 0.230
27
P PLL001 Pallister-Hall Syndrome 72 0.156
28
P TBR001 Tuberous Sclerosis 86 0.148
29
RTN023 Retinitis 53 0.144
30
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.144
31
SRC014 Sarcoma 68 0.134
32
c CNT075 Central Precocious Puberty 46 0.129
33
P HMN010 Hemangioma 70 0.124
34
P BSL007 Basal Cell Carcinoma 66 0.124
35
SYN053 Syndromic Diarrhea 34 0.124
36
P NRF002 Neurofibromatosis 94 0.119
37
c HPT021 Hepatitis 63 0.114
38
EMB007 Embryonal Sarcoma 48 0.114
39
ADN018 Adenoma 65 0.108
40
NRN002 Neuronitis 43 0.108
41
ACN002 Acanthosis Nigricans 64 0.102
42
P ATX010 Ataxia Neuropathy Spectrum 47 0.102
43
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 0.088
44
P PLY006 Polydactyly 56 0.088
45
c MSN006 Mesenchymoma 41 0.088
46
ANK002 Ankylosing Spondylitis 76 0.080
47
P ANG001 Angelman Syndrome 71 0.080
48
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.080
49
P BCK002 Beckwith-Wiedemann Syndrome 68 0.080
50
c PNC044 Pancreatitis 68 0.080
51
ART019 Aortic Valve Stenosis 63 0.080
52
P PLR004 Pleuropulmonary Blastoma 58 0.080
53
BLS003 Blastoma 53 0.080
54
BLD033 Bile Duct Adenoma 48 0.080
55
PRT093 Proteus Syndrome, Somatic 46 0.080
56
CHR469 Choristoma 27 0.080
57
TRC052 Trichofolliculoma 19 0.080
58
P ATX002 Ataxia Telangiectasia 87 0.072
59
CHL065 Cholangiocarcinoma 69 0.072
60
P WLM002 Wilms Tumor 66 0.072
61
c THY032 Thyroiditis 65 0.072
62
P RNL014 Renal Cell Carcinoma 63 0.072
63
GNG013 Gingivitis 60 0.072
64
P CRP001 Carpal Tunnel Syndrome 56 0.072
65
DDN006 Duodenitis 55 0.072
66
ART001 Arterial Tortuosity Syndrome 55 0.072
67
HYP077 Hypertrichosis 53 0.072
68
AND003 Andersen-Tawil Syndrome 53 0.072
69
P CLF002 Cleft Palate 51 0.072
70
TBR022 Tuberous Sclerosis Complex 51 0.072
71
IMP002 Imperforate Anus 51 0.072
72
c GGN002 Gigantism 47 0.072
73
EPL002 Epilepsy Syndrome 45 0.072
74
P MNN007 Meningocele 40 0.072
75
CRB009 Cerebritis 38 0.072
76
AND002 Androgen Insensitivity Syndrome 80 0.062
77
P HYD006 Hydrocephalus 69 0.062
78
P PRT008 Proteus Syndrome 60 0.062
79
P ADN016 Adenocarcinoma 58 0.062
80
CHN010 Chondroma 58 0.062
81
P SNS014 Sinusitis 57 0.062
82
CHR008 Choroiditis 53 0.062
83
GNG004 Ganglioglioma 53 0.062
84
LNN001 Lennox-Gastaut Syndrome 53 0.062
85
MCR013 Microphthalmia 53 0.062
86
THR013 Thoracic Outlet Syndrome 52 0.062
87
P SZR006 Seizure Disorder 50 0.062
88
NSP002 Nasopharyngitis 48 0.062
89
RVL002 Ruvalcaba Syndrome 46 0.062
90
HPT022 Hepatoblastoma 43 0.062
91
P RTN008 Retinitis Pigmentosa 86 0.051
92
P BRS047 Breast Cancer 85 0.051
93
P GST019 Gastrointestinal Stromal Tumor 83 0.051
94
P MDL005 Medulloblastoma 80 0.051
95
SKN016 Skin Disease 74 0.051
96
P LYM007 Lymphangioleiomyomatosis 74 0.051
97
P AST007 Astrocytoma 72 0.051
98
P CNG368 Congenital Adrenal Hyperplasia 72 0.051
99
P EPD002 Epidermolytic Hyperkeratosis 72 0.051
100
P PRM005 Primary Hyperparathyroidism 70 0.051
101
ATS001 Autistic Disorder 70 0.051
102
c AXN002 Axenfeld-Rieger Syndrome 69 0.051
103
RNL002 Renal Agenesis 69 0.051
104
KLP002 Klippel-Trenaunay Syndrome 69 0.051
105
HYP020 Hyperprolactinemia 67 0.051
106
PPL022 Papilloma 65 0.051
107
LPM004 Lipoma 65 0.051
108
ULC004 Ulcerative Colitis 64 0.051
109
HMH002 Hemihypertrophy 64 0.051
110
c SCL016 Scleroderma 64 0.051
111
c HYP069 Hyperparathyroidism 64 0.051
112
P LRY019 Laryngitis 64 0.051
113
CLT003 Colitis 64 0.051
114
ARC007 Arachnoid Cysts 62 0.051
115
DFC004 Deficiency Anemia 62 0.051
116
c KDN018 Kidney Disease 62 0.051
117
P PPL005 Papillary Renal Cell Carcinoma 62 0.051
118
P ESN007 Eosinophilia 62 0.051
119
INT051 Intussusception 60 0.051
120
P RTN025 Retinoschisis 60 0.051
121
ANG020 Angiosarcoma 59 0.051
122
MCK005 Mckusick-Kaufman Syndrome 59 0.051
123
CLF001 Cleft Lip 59 0.051
124
c TRT010 Teratoma 58 0.051
125
P CRV039 Cervicitis 57 0.051
126
NRF007 Neurofibroma 57 0.051
127
c CTR002 Cataract 57 0.051
128
P PLC011 Pilocytic Astrocytoma 56 0.051
129
c MNT147 Mental Retardation 56 0.051
130
HMM003 Hemimegalencephaly 54 0.051
131
NPH011 Nephroblastoma 54 0.051
132
PLY012 Polyhydramnios 54 0.051
133
PPL021 Papilledema 53 0.051
134
GRW007 Growth Hormone Deficiency 52 0.051
135
GNG005 Gangliocytoma 51 0.051
136
P CYS016 Cystic Kidney 50 0.051
137
END072 Endotheliitis 50 0.051
138
FBR009 Fibrous Dysplasia 50 0.051
139
c SYN001 Syndactyly 50 0.051
140
RFR010 Refractory Anemia 50 0.051
141
c MSB002 Mesoblastic Nephroma 49 0.051
142
SKN023 Skin Tag 48 0.051
143
GNG002 Ganglioneuroma 48 0.051
144
P CNG029 Congenital Mesoblastic Nephroma 47 0.051
145
c RNL078 Renal Dysplasia 47 0.051
146
BRS051 Breast Disease 47 0.051
147
c AML002 Amelogenesis Imperfecta 46 0.051
148
MYK002 Myokymia 46 0.051
149
NRM004 Neuroma 45 0.051
150
HMN016 Hemangioendothelioma 45 0.051
151
OPT037 Optic Nerve Hypoplasia 45 0.051
152
ARC002 Arachnoiditis 44 0.051
153
AGN013 Agenesis of the Corpus Callosum 44 0.051
154
c HYP263 Hypersomnia 44 0.051
155
ANG016 Angiokeratoma 44 0.051
156
UND001 Undifferentiated Embryonal Sarcoma of the Liver 43 0.051
157
ORL010 Oral-Facial-Digital Syndrome Type I 43 0.051
158
HYP022 Hypohidrosis 43 0.051
159
PLN006 Poland Syndrome 41 0.051
160
INV006 Inverted Papilloma 40 0.051
161
CRB045 Cerebellar Hypoplasia 39 0.051
162
INT079 Intrahepatic Cholangiocarcinoma 39 0.051
163
GST064 Gastric Outlet Obstruction 39 0.051
164
c JVN009 Juvenile Pilocytic Astrocytoma 36 0.051
165
ENP001 Enophthalmos 35 0.051
166
ODN006 Odontoma 31 0.051
167
MYF001 Myofibroma 28 0.051
168
P PLY034 Polydactyly Preaxial Type 4 28 0.051
169
EPD046 Epididymitis 28 0.051
170
c ORF009 Orofaciodigital Syndrome 4 28 0.051
171
EST004 Estrogen Excess 26 0.051
172
NVS012 Nevus Comedonicus Syndrome 20 0.051
173
INF028 Infundibulocystic Basal Cell Carcinoma 16 0.051
174
MCH008 Michelin Tire Baby Syndrome 14 0.051
175
CYS001 Cystic Fibrosis 96 0.036
176
P SYS001 Systemic Lupus Erythematosus 89 0.036
177
P LFR001 Li-Fraumeni Syndrome 88 0.036
178
GLC006 Galactosemia 85 0.036
179
P ALG002 Alagille Syndrome 81 0.036
180
P MYS003 Myasthenia Gravis 79 0.036
181
P LNG032 Lung Cancer 78 0.036
182
21H001 21-Hydroxylase Deficiency 76 0.036
183
P JVN014 Juvenile Polyposis Syndrome 75 0.036
184
c LPS004 Lupus Erythematosus 75 0.036
185
c OST001 Osteopetrosis 75 0.036
186
c DBT009 Diabetes Mellitus 73 0.036
187
c PRM002 Primary Hyperoxaluria 73 0.036
188
WST001 West Syndrome 72 0.036
189
PRT036 Peritonitis 71 0.036
190
NRL016 Neural Tube Defects 69 0.036
191
P KDN017 Kidney Cancer 69 0.036
192
P CNG401 Congenital Heart Disease 69 0.036
193
DRM014 Dermatofibrosarcoma Protuberans 68 0.036
194
c HLP001 Holoprosencephaly 68 0.036
195
CLB001 Coloboma 68 0.036
196
P LVR013 Liver Disease 68 0.036
197
LMY002 Leiomyoma 67 0.036
198
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 67 0.036
199
P TRN020 Turner Syndrome 67 0.036
200
P SYS005 Systemic Scleroderma 66 0.036
201
c AMY001 Amyotrophic Lateral Sclerosis 66 0.036
202
CHR072 Chordoma 65 0.036
203
STT001 Status Epilepticus 65 0.036
204
P PCH001 Pachyonychia Congenita 64 0.036
205
P MLN008 Melanoma 64 0.036
206
BRN028 Brain Cancer 64 0.036
207
ANR002 Aniridia 64 0.036
208
CRY002 Cryptorchidism 63 0.036
209
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.036
210
WLL003 Williams Syndrome 63 0.036
211
P HST010 Histiocytosis 63 0.036
212
P OLG002 Oligodendroglioma 62 0.036
213
c INT070 Intestinal Obstruction 62 0.036
214
GLD001 Goldenhar Syndrome 62 0.036
215
ART031 Aortic Coarctation 62 0.036
216
LRN003 Learning Disability 62 0.036
217
HYD012 Hydrops Fetalis 61 0.036
218
P LMY004 Leiomyosarcoma 61 0.036
219
P DDN001 Duodenal Ulcer 61 0.036
220
P CNJ013 Conjunctivitis 61 0.036
221
SPH001 Sapho Syndrome 60 0.036
222
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.036
223
ALP008 Alopecia 59 0.036
224
MRG003 Marginal Zone B-Cell Lymphoma 58 0.036
225
RHB003 Rhabdomyosarcoma 58 0.036
226
ISL001 Islet Cell Tumor 58 0.036
227
MYC002 Mycobacterium Avium Complex Disease 58 0.036
228
NRN001 Neuroendocrine Carcinoma 58 0.036
229
HYP063 Hypersplenism 58 0.036
230
CRT002 Cartilage-Hair Hypoplasia 57 0.036
231
BRT002 Birt-Hogg-Dube Syndrome 57 0.036
232
NRL005 Neurilemmoma 57 0.036
233
PTN002 Patent Ductus Arteriosus 57 0.036
234
P SDR002 Siderosis 57 0.036
235
IRN001 Iron Deficiency Anemia 56 0.036
236
P BCL006 B-Cell Lymphomas 56 0.036
237
c HYP060 Hyperinsulinism 56 0.036
238
MCR088 Microscopic Polyangiitis 56 0.036
239
MYL003 Myeloid Sarcoma 55 0.036
240
OSS001 Ossifying Fibroma 55 0.036
241
MRK001 Merkel Cell Carcinoma 55 0.036
242
P PND001 Pain Disorder 54 0.036
243
c ACR001 Aicardi-Goutieres Syndrome 54 0.036
244
P JVN003 Juvenile Xanthogranuloma 53 0.036
245
LYM022 Lymphangioma 53 0.036
246
PNC053 Pancreatic Islet Cell Tumors 53 0.036
247
GYR001 Gyrate Atrophy 52 0.036
248
c INF016 Infantile Epileptic Encephalopathy 52 0.036
249
CRN014 Cronkhite-Canada Syndrome 52 0.036
250
c HYD002 Hydronephrosis 52 0.036
251
c ORF001 Orofaciodigital Syndrome 51 0.036
252
MLK003 Melkersson-Rosenthal Syndrome 51 0.036
253
ANG018 Angiomyolipoma 51 0.036
254
JVN033 Juvenile Nasopharyngeal Angiofibroma 51 0.036
255
STT007 Steatocystoma Multiplex 51 0.036
256
ANR009 Aneurysmal Bone Cysts 51 0.036
257
MNN014 Mononeuritis 51 0.036
258
WBR001 Weber Syndrome 50 0.036
259
OBS001 Obstructive Jaundice 50 0.036
260
P CST002 Castleman's Disease 50 0.036
261
CRN055 Carney Triad 50 0.036
262
CYS009 Cystadenoma 50 0.036
263
PLX002 Plexiform Neurofibroma 49 0.036
264
LBL001 Lobular Neoplasia 49 0.036
265
SCH016 Schimke Immunoosseous Dysplasia 48 0.036
266
c LRG001 Large Cell Carcinoma 48 0.036
267
SYR002 Syringocystadenoma Papilliferum 47 0.036
268
CHL004 Cholelithiasis 47 0.036
269
BRN003 Branchiooculofacial Syndrome 47 0.036
270
c EPL003 Epulis 47 0.036
271
FBR019 Fibromatosis 46 0.036
272
FBR054 Fibroma 46 0.036
273
MCR019 Microglandular Adenosis 46 0.036
274
SMT002 Smooth Muscle Tumor 45 0.036
275
ANR040 Aneurysm 45 0.036
276
P CYS007 Cystic Nephroma 45 0.036
277
EVN001 Evans' Syndrome 45 0.036
278
CMP034 Complete Androgen Insensitivity Syndrome 45 0.036
279
GYN001 Gynecomastia 45 0.036
280
PPL006 Papillon-Lefevre Disease 45 0.036
281
MGL013 Megalencephaly 45 0.036
282
MYC033 Myoclonus 44 0.036
283
HPT006 Hepatic Angiomyolipoma 44 0.036
284
CRP018 Cor Pulmonale 44 0.036
285
EPT011 Epithelioid Leiomyosarcoma 44 0.036
286
TTR016 Tetra-Amelia Syndrome 43 0.036
287
OBS004 Obstructive Hydrocephalus 42 0.036
288
HMF004 Hemifacial Spasm 42 0.036
289
HYP108 Hyperparathyroidism-Jaw Tumor Syndrome 42 0.036
290
MCK002 Meckel's Diverticulum 42 0.036
291
c HYP087 Hypotrichosis 42 0.036
292
DYS048 Dysplasia Epiphysealis Hemimelica 41 0.036
293
BLR015 Blue Rubber Bleb Nevus Syndrome 41 0.036
294
P CNG004 Congenital Epulis 41 0.036
295
P ORF011 Orofaciodigital Syndrome 6 41 0.036
296
GST071 Gastrointestinal Carcinoma 41 0.036
297
HYP265 Hypotonia 40 0.036
298
EPD053 Epidermal Nevus, Somatic 40 0.036
299
SKN005 Skin Atrophy 40 0.036
300
ADN064 Adenohypophysitis 39 0.036
301
SPN012 Spindle Cell Hemangioma 39 0.036
302
SCL017 Sclerosing Hemangioma 38 0.036
303
SPR066 Superficial Siderosis 38 0.036
304
ANG037 Angiomatosis 38 0.036
305
RNL025 Renal Hypoplasia 37 0.036
306
BRN016 Bronchogenic Carcinoma 37 0.036
307
BRN055 Bronchogenic Cyst 37 0.036
308
LYM095 Lymphangiomatosis 37 0.036
309
ASP008 Aspiration Pneumonitis 37 0.036
310
FTD001 Foot Drop 36 0.036
311
MLT107 Multilocular Cystic Renal Cell Carcinoma 35 0.036
312
ADS002 Adie Syndrome 35 0.036
313
CLC011 Cloacal Exstrophy 34 0.036
314
SX2002 Sox2 Anophthalmia Syndrome 33 0.036
315
DPH006 Diaphragmatic Eventration 33 0.036
316
c CLD003 Cold-Induced Sweating Syndrome 33 0.036
317
GRD002 Gardner Syndrome 33 0.036
318
PLM018 Pulmonary Sclerosing Hemangioma 33 0.036
319
GNG015 Gingival Fibromatosis with Hypertrichosis 32 0.036
320
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 32 0.036
321
FCL003 Facial Hemiatrophy 32 0.036
322
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 31 0.036
323
c MNS008 Monosomy 21 31 0.036
324
LVR014 Liver Sarcoma 30 0.036
325
GST039 Gastroduodenitis 30 0.036
326
P CLD010 Cold-Induced Sweating Syndrome 1 30 0.036
327
CBB002 Cobb Syndrome 30 0.036
328
c ORF012 Orofaciodigital Syndrome 8 29 0.036
329
BSC004 Buschke Ollendorff Syndrome 29 0.036
330
c PRC047 Precocious Puberty, Central, 1 28 0.036
331
HNM002 Hinman Syndrome 28 0.036
332
ANG004 Angioid Streaks 28 0.036
333
ACR037 Acromegaloid Facial Appearance Syndrome 28 0.036
334
SPR032 Superficial Siderosis of the Central Nervous System 27 0.036
335
IRN002 Iron Metabolism Disease 27 0.036
336
DDN009 Duodenal Obstruction 26 0.036
337
NRC006 Neurocutaneous Melanosis 26 0.036
338
DRM005 Dermoid Cyst of Ovary 26 0.036
339
P MLT049 Multiple Familial Trichoepithelioma 1 26 0.036
340
c ORF008 Orofaciodigital Syndrome 3 24 0.036
341
LNR005 Linear Scleroderma 24 0.036
342
c PCH012 Pachyonychia Congenita 2 24 0.036
343
PNL023 Penile Agenesis 23 0.036
344
OCC007 Occult Spinal Dysraphism 23 0.036
345
ART030 Aortic Arch Interruption 23 0.036
346
TBR003 Tuberculous Epididymitis 22 0.036
347
EPG004 Epignathus 22 0.036
348
P CTS012 Cutis Verticis Gyrata 22 0.036
349
c BNG076 Benign Exophthalmos Syndrome 22 0.036
350
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.036
351
P PSD086 Pseudoarthrosis 22 0.036
352
PSD008 Pseudopapilledema 21 0.036
353
AND005 Androgen Insensitivity Syndrome, Mild 21 0.036
354
STR029 Sternal Cleft 20 0.036
355
c ORF013 Orofaciodigital Syndrome 9 20 0.036
356
MYX007 Myxosarcoma 20 0.036
357
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.036
358
ADN025 Adenoameloblastoma 18 0.036
359
INF048 Infantile Histiocytoid Cardiomyopathy 16 0.036
360
P JVN002 Juvenile Type Testicular Granulosa Cell Tumor 16 0.036
361
P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 16 0.036
362
GLF001 Gliofibroma 16 0.036
363
MLN009 Melanotic Neurilemmoma 14 0.036
364
c CNG120 Congenital Pseudoarthrosis 13 0.036
365
PNS014 Penis Agenesis 13 0.036
366
INT049 Intrahepatic Bile Duct Adenoma 13 0.036
367
FBR015 Fibroepithelial Basal Cell Carcinoma 13 0.036
368
ANG024 Angiofollicular Lymph Hyperplasia 12 0.036
369
BLD035 Bile Duct Cystadenoma 12 0.036
370
c PCH010 Pachyonychia Congenita 3 10 0.036
371
c PCH011 Pachyonychia Congenita 4 10 0.036
372
MCR034 Macrodactyly of the Foot 9 0.036
373
ABS002 Absence of Gluteal Muscle 6 0.036