Search results for "hamartoma"

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

361 hits were found for 'hamartoma'

# Family MCID Name MIFTS Score
1
HYP231 Hypothalamic Hamartomas 48 4.519
2
PTN006 Pten Hamartoma Tumor Syndrome 37 4.354
3
c CWD001 Cowden Disease 71 3.993
4
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 17 3.822
5
HPT028 Hepatic Cystic Hamartoma 11 3.807
6
GNT022 Giant Mammary Hamartoma 5 3.452
7
ANG033 Angiomyomatous Hamartoma 9 3.093
8
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 3.004
9
GNR022 Generalized Basaloid Follicular Hamartoma Syndrome 14 3.004
10
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 4 2.989
11
BSL013 Basaloid Follicular Hamartoma 15 2.773
12
CNG248 Congenital Smooth Muscle Hamartoma 16 2.714
13
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 13 2.694
14
ANG032 Angiomatous Lymphoid Hamartoma 9 2.613
15
P CWD006 Cowden Syndrome 1 58 2.474
16
LNR002 Linear Hamartoma Syndrome 2 2.421
17
GRH002 Graham Boyle Troxell Syndrome 11 2.398
18
HYP277 Hypothalamic Hamartomas, Somatic 5 2.398
19
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 4 2.398
20
FLL043 Follicular Hamartoma - Alopecia - Cystic Fibrosis 3 2.398
21
PTZ001 Peutz-Jeghers Syndrome 76 1.816
22
CPL006 Capillary Hemangioma 58 1.769
23
LNR012 Linear Verrucous Nevus Syndrome 14 1.726
24
EPD037 Epidermal Nevus 54 1.696
25
c CWD008 Cowden Syndrome 6 11 1.696
26
c CWD003 Cowden Syndrome 2 10 1.696
27
c CWD004 Cowden Syndrome 5 10 1.696
28
c CWD007 Cowden Syndrome 3 10 1.696
29
c CWD005 Cowden Syndrome 4 9 1.696
30
ORS001 Orstavik Lindemann Solberg Syndrome 4 1.696
31
P PRC019 Precocious Puberty 60 0.231
32
P TBR001 Tuberous Sclerosis 85 0.146
33
P PLL001 Pallister-Hall Syndrome 70 0.146
34
RTN023 Retinitis 53 0.146
35
SRC014 Sarcoma 69 0.131
36
P HMN010 Hemangioma 70 0.126
37
c CNT075 Central Precocious Puberty 46 0.126
38
P BSL007 Basal Cell Carcinoma 63 0.121
39
SYN053 Syndromic Diarrhea 32 0.121
40
P NRF002 Neurofibromatosis 93 0.115
41
c HPT021 Hepatitis 64 0.115
42
ADN018 Adenoma 64 0.109
43
EMB007 Embryonal Sarcoma 49 0.109
44
NRN002 Neuronitis 43 0.109
45
ACN002 Acanthosis Nigricans 69 0.103
46
P ATX010 Ataxia Neuropathy Spectrum 41 0.103
47
P PLY006 Polydactyly 56 0.089
48
c MSN006 Mesenchymoma 42 0.089
49
ANK002 Ankylosing Spondylitis 74 0.081
50
P ANG001 Angelman Syndrome 70 0.081
51
c PNC044 Pancreatitis 69 0.081
52
P BCK002 Beckwith-Wiedemann Syndrome 67 0.081
53
c THY032 Thyroiditis 66 0.081
54
ART019 Aortic Valve Stenosis 64 0.081
55
HYP077 Hypertrichosis 49 0.081
56
BLD033 Bile Duct Adenoma 48 0.081
57
CHR469 Choristoma 28 0.081
58
TRC052 Trichofolliculoma 20 0.081
59
CHL065 Cholangiocarcinoma 69 0.073
60
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.073
61
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 62 0.073
62
P RNL014 Renal Cell Carcinoma 62 0.073
63
DDN006 Duodenitis 56 0.073
64
c WLM002 Wilms Tumor 51 0.073
65
TBR022 Tuberous Sclerosis Complex 51 0.073
66
c GGN002 Gigantism 47 0.073
67
EPL002 Epilepsy Syndrome 45 0.073
68
P MNN007 Meningocele 40 0.073
69
CRB009 Cerebritis 39 0.073
70
P ATX002 Ataxia Telangiectasia 86 0.063
71
AND002 Androgen Insensitivity Syndrome 80 0.063
72
P HYD006 Hydrocephalus 68 0.063
73
GNG013 Gingivitis 62 0.063
74
CHN010 Chondroma 59 0.063
75
P PRT008 Proteus Syndrome 57 0.063
76
P CRP001 Carpal Tunnel Syndrome 56 0.063
77
P PLR004 Pleuropulmonary Blastoma 56 0.063
78
CHR008 Choroiditis 55 0.063
79
ART001 Arterial Tortuosity Syndrome 54 0.063
80
BLS003 Blastoma 53 0.063
81
LNN001 Lennox-Gastaut Syndrome 53 0.063
82
GNG004 Ganglioglioma 53 0.063
83
AND003 Andersen-Tawil Syndrome 53 0.063
84
P MCR013 Microphthalmia 52 0.063
85
P CLF002 Cleft Palate 52 0.063
86
THR013 Thoracic Outlet Syndrome 52 0.063
87
IMP002 Imperforate Anus 48 0.063
88
NSP002 Nasopharyngitis 48 0.063
89
PRT093 Proteus Syndrome, Somatic 45 0.063
90
P BRS047 Breast Cancer 100 0.052
91
P GST019 Gastrointestinal Stromal Tumor 82 0.052
92
P RTN008 Retinitis Pigmentosa 80 0.052
93
P MDL005 Medulloblastoma 77 0.052
94
SKN016 Skin Disease 75 0.052
95
ATS001 Autistic Disorder 71 0.052
96
RNL002 Renal Agenesis 70 0.052
97
P PRM005 Primary Hyperparathyroidism 68 0.052
98
KLP002 Klippel-Trenaunay Syndrome 67 0.052
99
P CNG368 Congenital Adrenal Hyperplasia 66 0.052
100
c AXN002 Axenfeld-Rieger Syndrome 66 0.052
101
P LRY019 Laryngitis 65 0.052
102
HYP020 Hyperprolactinemia 65 0.052
103
c SCL016 Scleroderma 64 0.052
104
c HYP069 Hyperparathyroidism 64 0.052
105
HMH002 Hemihypertrophy 64 0.052
106
LPM004 Lipoma 64 0.052
107
ULC004 Ulcerative Colitis 63 0.052
108
DFC004 Deficiency Anemia 62 0.052
109
c KDN018 Kidney Disease 62 0.052
110
HPT022 Hepatoblastoma 62 0.052
111
ARC007 Arachnoid Cysts 61 0.052
112
P ESN007 Eosinophilia 61 0.052
113
ANG020 Angiosarcoma 60 0.052
114
RTN025 Retinoschisis 59 0.052
115
CLF001 Cleft Lip 59 0.052
116
MCK005 Mckusick-Kaufman Syndrome 58 0.052
117
P ADN016 Adenocarcinoma 58 0.052
118
P CRV039 Cervicitis 57 0.052
119
NRF007 Neurofibroma 57 0.052
120
P SNS014 Sinusitis 57 0.052
121
c CTR002 Cataract 57 0.052
122
PPL021 Papilledema 56 0.052
123
HMM003 Hemimegalencephaly 55 0.052
124
c TRT010 Teratoma 55 0.052
125
NPH011 Nephroblastoma 54 0.052
126
PLY012 Polyhydramnios 54 0.052
127
P PPL005 Papillary Renal Cell Carcinoma 54 0.052
128
GRW007 Growth Hormone Deficiency 52 0.052
129
DRM004 Dermatofibrosarcoma 52 0.052
130
GNG005 Gangliocytoma 51 0.052
131
MNT147 Mental Retardation 51 0.052
132
P CYS016 Cystic Kidney 51 0.052
133
END072 Endotheliitis 50 0.052
134
c SYN001 Syndactyly 50 0.052
135
FBR009 Fibrous Dysplasia 50 0.052
136
c MSB002 Mesoblastic Nephroma 50 0.052
137
GNG002 Ganglioneuroma 49 0.052
138
SKN023 Skin Tag 49 0.052
139
RFR010 Refractory Anemia 48 0.052
140
c CNG029 Congenital Mesoblastic Nephroma 48 0.052
141
c RNL078 Renal Dysplasia 47 0.052
142
BRS051 Breast Disease 47 0.052
143
c EPL003 Epulis 47 0.052
144
NRM004 Neuroma 47 0.052
145
MYK002 Myokymia 46 0.052
146
HMN016 Hemangioendothelioma 45 0.052
147
RVL002 Ruvalcaba Syndrome 45 0.052
148
ARC002 Arachnoiditis 45 0.052
149
ANG016 Angiokeratoma 44 0.052
150
UND001 Undifferentiated Embryonal Sarcoma of the Liver 43 0.052
151
HYP022 Hypohidrosis 43 0.052
152
P CNG004 Congenital Epulis 42 0.052
153
CRB045 Cerebellar Hypoplasia 39 0.052
154
INT079 Intrahepatic Cholangiocarcinoma 39 0.052
155
GST064 Gastric Outlet Obstruction 39 0.052
156
ENP001 Enophthalmos 35 0.052
157
ODN006 Odontoma 31 0.052
158
MYF001 Myofibroma 29 0.052
159
EPD046 Epididymitis 28 0.052
160
c ORF009 Orofaciodigital Syndrome 4 28 0.052
161
P PLY034 Polydactyly Preaxial Type 4 27 0.052
162
EST004 Estrogen Excess 26 0.052
163
MCH008 Michelin Tire Baby Syndrome 14 0.052
164
P AMY001 Amyotrophic Lateral Sclerosis 98 0.036
165
CYS001 Cystic Fibrosis 96 0.036
166
P LFR001 Li-Fraumeni Syndrome 87 0.036
167
P SYS001 Systemic Lupus Erythematosus 85 0.036
168
GLC006 Galactosemia 81 0.036
169
c DBT009 Diabetes Mellitus 78 0.036
170
P MYS003 Myasthenia Gravis 78 0.036
171
P NRL016 Neural Tube Defects 77 0.036
172
21H001 21-Hydroxylase Deficiency 73 0.036
173
P LYM007 Lymphangioleiomyomatosis 73 0.036
174
P LNG032 Lung Cancer 72 0.036
175
c LPS004 Lupus Erythematosus 72 0.036
176
c PRM002 Primary Hyperoxaluria 72 0.036
177
PRT036 Peritonitis 71 0.036
178
P EPD002 Epidermolytic Hyperkeratosis 70 0.036
179
P JVN014 Juvenile Polyposis Syndrome 69 0.036
180
P LVR013 Liver Disease 69 0.036
181
P KDN017 Kidney Cancer 68 0.036
182
LMY002 Leiomyoma 67 0.036
183
P SYS005 Systemic Scleroderma 66 0.036
184
CHR072 Chordoma 66 0.036
185
P TRN020 Turner Syndrome 66 0.036
186
PPL022 Papilloma 65 0.036
187
STT001 Status Epilepticus 65 0.036
188
ANR002 Aniridia 65 0.036
189
DRM014 Dermatofibrosarcoma Protuberans 64 0.036
190
P HLP001 Holoprosencephaly 64 0.036
191
P OLG002 Oligodendroglioma 64 0.036
192
P LMY004 Leiomyosarcoma 64 0.036
193
P PCH001 Pachyonychia Congenita 64 0.036
194
CLB001 Coloboma 64 0.036
195
P CNJ013 Conjunctivitis 63 0.036
196
c INT070 Intestinal Obstruction 63 0.036
197
P MLN008 Melanoma 63 0.036
198
P OST001 Osteopetrosis 63 0.036
199
LRN003 Learning Disability 62 0.036
200
BRN028 Brain Cancer 62 0.036
201
P HST010 Histiocytosis 62 0.036
202
ART031 Aortic Coarctation 62 0.036
203
WST001 West Syndrome 62 0.036
204
GLD001 Goldenhar Syndrome 61 0.036
205
HYD012 Hydrops Fetalis 61 0.036
206
P DDN001 Duodenal Ulcer 60 0.036
207
WLL003 Williams Syndrome 60 0.036
208
GLM008 Glomus Tumor 59 0.036
209
SPH001 Sapho Syndrome 59 0.036
210
INT051 Intussusception 58 0.036
211
P CNG401 Congenital Heart Disease 58 0.036
212
MYC002 Mycobacterium Avium Complex Disease 58 0.036
213
HYP063 Hypersplenism 58 0.036
214
NRN001 Neuroendocrine Carcinoma 58 0.036
215
NRL005 Neurilemmoma 57 0.036
216
RHB003 Rhabdomyosarcoma 57 0.036
217
MRG003 Marginal Zone B-Cell Lymphoma 57 0.036
218
PTN002 Patent Ductus Arteriosus 57 0.036
219
IRN001 Iron Deficiency Anemia 57 0.036
220
SDR002 Siderosis 56 0.036
221
BRT002 Birt-Hogg-Dube Syndrome 56 0.036
222
ALP008 Alopecia 56 0.036
223
MYL003 Myeloid Sarcoma 56 0.036
224
OSS001 Ossifying Fibroma 55 0.036
225
c HYP060 Hyperinsulinism 55 0.036
226
MCR088 Microscopic Polyangiitis 55 0.036
227
LYM022 Lymphangioma 54 0.036
228
MRK001 Merkel Cell Carcinoma 53 0.036
229
ISL001 Islet Cell Tumor 53 0.036
230
c ACR001 Aicardi-Goutieres Syndrome 53 0.036
231
c HYD002 Hydronephrosis 53 0.036
232
P JVN003 Juvenile Xanthogranuloma 53 0.036
233
PNC053 Pancreatic Islet Cell Tumors 53 0.036
234
GYR001 Gyrate Atrophy 52 0.036
235
c INF016 Infantile Epileptic Encephalopathy 52 0.036
236
ANG018 Angiomyolipoma 51 0.036
237
JVN033 Juvenile Nasopharyngeal Angiofibroma 51 0.036
238
c ORF001 Orofaciodigital Syndrome 51 0.036
239
ANR009 Aneurysmal Bone Cysts 51 0.036
240
MNN014 Mononeuritis 51 0.036
241
WBR001 Weber Syndrome 51 0.036
242
P CST002 Castleman's Disease 50 0.036
243
MLK003 Melkersson-Rosenthal Syndrome 50 0.036
244
OBS001 Obstructive Jaundice 50 0.036
245
CYS009 Cystadenoma 50 0.036
246
CRN055 Carney Triad 50 0.036
247
PLX002 Plexiform Neurofibroma 50 0.036
248
STT007 Steatocystoma Multiplex 49 0.036
249
c LRG001 Large Cell Carcinoma 49 0.036
250
P BCL006 B-Cell Lymphomas 49 0.036
251
P PND001 Pain Disorder 48 0.036
252
BRN016 Bronchogenic Carcinoma 48 0.036
253
CHL004 Cholelithiasis 47 0.036
254
SYR002 Syringocystadenoma Papilliferum 47 0.036
255
c EPL028 Epileptic Encephalopathy, Early Infantile, 5 47 0.036
256
FBR019 Fibromatosis 47 0.036
257
LBL001 Lobular Neoplasia 47 0.036
258
EVN001 Evans' Syndrome 46 0.036
259
GYN001 Gynecomastia 46 0.036
260
SCH016 Schimke Immunoosseous Dysplasia 46 0.036
261
MCR019 Microglandular Adenosis 46 0.036
262
c AML002 Amelogenesis Imperfecta 46 0.036
263
SMT002 Smooth Muscle Tumor 46 0.036
264
P CYS007 Cystic Nephroma 45 0.036
265
FBR054 Fibroma 45 0.036
266
MGL013 Megalencephaly 45 0.036
267
CMP034 Complete Androgen Insensitivity Syndrome 45 0.036
268
MYC033 Myoclonus 45 0.036
269
HPT006 Hepatic Angiomyolipoma 45 0.036
270
CRP010 Corpus Callosum Agenesis 44 0.036
271
ANR040 Aneurysm 44 0.036
272
CRP018 Cor Pulmonale 44 0.036
273
PPL006 Papillon-Lefevre Disease 44 0.036
274
EPT011 Epithelioid Leiomyosarcoma 44 0.036
275
OPT037 Optic Nerve Hypoplasia 44 0.036
276
OBS004 Obstructive Hydrocephalus 43 0.036
277
HMF004 Hemifacial Spasm 43 0.036
278
ORL010 Oral-Facial-Digital Syndrome Type I 42 0.036
279
TTR016 Tetra-Amelia Syndrome 41 0.036
280
c HYP087 Hypotrichosis 41 0.036
281
DYS048 Dysplasia Epiphysealis Hemimelica 41 0.036
282
PLN006 Poland Syndrome 41 0.036
283
P CLD003 Cold-Induced Sweating Syndrome 41 0.036
284
HYP265 Hypotonia 41 0.036
285
BLR015 Blue Rubber Bleb Nevus Syndrome 40 0.036
286
MCK002 Meckel's Diverticulum 40 0.036
287
SKN005 Skin Atrophy 40 0.036
288
INV006 Inverted Papilloma 40 0.036
289
ADN064 Adenohypophysitis 39 0.036
290
SPN012 Spindle Cell Hemangioma 39 0.036
291
SCL017 Sclerosing Hemangioma 39 0.036
292
BRN055 Bronchogenic Cyst 38 0.036
293
ANG037 Angiomatosis 38 0.036
294
RNL025 Renal Hypoplasia 38 0.036
295
P WLM008 Wilms Tumor, Type 1 38 0.036
296
SPR066 Superficial Siderosis 38 0.036
297
LYM095 Lymphangiomatosis 37 0.036
298
FTD001 Foot Drop 37 0.036
299
ASP008 Aspiration Pneumonitis 36 0.036
300
MLT107 Multilocular Cystic Renal Cell Carcinoma 35 0.036
301
c JBR030 Joubert Syndrome 22 35 0.036
302
ADS002 Adie Syndrome 35 0.036
303
CLC011 Cloacal Exstrophy 35 0.036
304
DPH006 Diaphragmatic Eventration 33 0.036
305
GRD002 Gardner Syndrome 33 0.036
306
PLM018 Pulmonary Sclerosing Hemangioma 33 0.036
307
FCL003 Facial Hemiatrophy 32 0.036
308
c MNS008 Monosomy 21 31 0.036
309
DSR005 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 31 0.036
310
GNG015 Gingival Fibromatosis with Hypertrichosis 30 0.036
311
LVR014 Liver Sarcoma 30 0.036
312
CBB002 Cobb Syndrome 30 0.036
313
EPD053 Epidermal Nevus, Somatic 29 0.036
314
ANG004 Angioid Streaks 28 0.036
315
BSC004 Buschke Ollendorff Syndrome 28 0.036
316
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 28 0.036
317
P ORF012 Orofaciodigital Syndrome 8 28 0.036
318
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 28 0.036
319
DDN009 Duodenal Obstruction 28 0.036
320
SPR032 Superficial Siderosis of the Central Nervous System 27 0.036
321
HNM002 Hinman Syndrome 27 0.036
322
DRM005 Dermoid Cyst of Ovary 27 0.036
323
STR029 Sternal Cleft 27 0.036
324
ACR037 Acromegaloid Facial Appearance Syndrome 26 0.036
325
IRN002 Iron Metabolism Disease 26 0.036
326
NRC006 Neurocutaneous Melanosis 26 0.036
327
P MLT049 Multiple Familial Trichoepithelioma 1 25 0.036
328
c PRC046 Precocious Puberty, Central, 2 24 0.036
329
c CTS012 Cutis Verticis Gyrata 24 0.036
330
LNR005 Linear Scleroderma 24 0.036
331
c ORF008 Orofaciodigital Syndrome 3 24 0.036
332
ART030 Aortic Arch Interruption 23 0.036
333
OCC007 Occult Spinal Dysraphism 23 0.036
334
EPG004 Epignathus 23 0.036
335
TBR003 Tuberculous Epididymitis 23 0.036
336
c BNG076 Benign Exophthalmos Syndrome 22 0.036
337
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.036
338
ADN025 Adenoameloblastoma 22 0.036
339
PNL023 Penile Agenesis 21 0.036
340
AND005 Androgen Insensitivity Syndrome, Mild 21 0.036
341
PSD008 Pseudopapilledema 20 0.036
342
NVS012 Nevus Comedonicus Syndrome 20 0.036
343
P PSD086 Pseudoarthrosis 20 0.036
344
c PCH012 Pachyonychia Congenita 2 20 0.036
345
MYX007 Myxosarcoma 20 0.036
346
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.036
347
P JVN002 Juvenile Type Testicular Granulosa Cell Tumor 16 0.036
348
c CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 16 0.036
349
GLF001 Gliofibroma 16 0.036
350
INF048 Infantile Histiocytoid Cardiomyopathy 15 0.036
351
MLN009 Melanotic Neurilemmoma 14 0.036
352
PNS014 Penis Agenesis 13 0.036
353
c CNG120 Congenital Pseudoarthrosis 13 0.036
354
INT049 Intrahepatic Bile Duct Adenoma 13 0.036
355
THY053 Thyroid Hormone Plasma Membrane Transport Defect 12 0.036
356
ANG024 Angiofollicular Lymph Hyperplasia 12 0.036
357
BLD035 Bile Duct Cystadenoma 12 0.036
358
c PCH010 Pachyonychia Congenita 3 12 0.036
359
FBR015 Fibroepithelial Basal Cell Carcinoma 11 0.036
360
c PCH011 Pachyonychia Congenita 4 9 0.036
361
ABS002 Absence of Gluteal Muscle 6 0.036