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
PTN006 Pten Hamartoma Tumor Syndrome 33 4.347
2
HYP231 Hypothalamic Hamartomas 36 3.923
3
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 24 3.815
4
c CWD001 Cowden Disease 69 3.618
5
GNT022 Giant Mammary Hamartoma 2 3.419
6
HPT028 Hepatic Cystic Hamartoma 8 3.403
7
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 2.999
8
MCR030 Macrocephaly Mesodermal Hamartoma Spectrum 3 2.985
9
ANG033 Angiomyomatous Hamartoma 1 2.952
10
GNR022 Generalized Basaloid Follicular Hamartoma Syndrome 12 2.932
11
BSL013 Basaloid Follicular Hamartoma 7 2.554
12
P CWD006 Cowden Syndrome 1 61 2.484
13
RHB007 Rhabdomyomatous Mesenchymal Hamartoma 4 2.437
14
CNG248 Congenital Smooth Muscle Hamartoma 9 2.417
15
ANG032 Angiomatous Lymphoid Hamartoma 1 2.417
16
LNR002 Linear Hamartoma Syndrome 1 2.417
17
GRH002 Graham Boyle Troxell Syndrome 10 2.394
18
HYP277 Hypothalamic Hamartomas, Somatic 10 2.394
19
HYP504 Hypothalamic Hamartomas with Gelastic Seizures 5 2.394
20
FLL043 Follicular Hamartoma - Alopecia - Cystic Fibrosis 3 2.394
21
PTZ001 Peutz-Jeghers Syndrome 83 1.813
22
CPL006 Capillary Hemangioma 57 1.766
23
LNR012 Linear Verrucous Nevus Syndrome 14 1.746
24
EPD037 Epidermal Nevus 43 1.693
25
c CWD008 Cowden Syndrome 6 12 1.693
26
c CWD003 Cowden Syndrome 2 9 1.693
27
c CWD004 Cowden Syndrome 5 9 1.693
28
c CWD007 Cowden Syndrome 3 9 1.693
29
c CWD005 Cowden Syndrome 4 8 1.693
30
ORS001 Orstavik Lindemann Solberg Syndrome 3 1.693
31
CMB016 Combined Oxidative Phosphorylation Deficiency 5 26 0.185
32
LMB055 Limb Transversal Defect - Cardiac Anomaly 21 0.185
33
WDM003 Wiedemann Opitz Syndrome 8 0.178
34
GRB002 Gerbode Defect 16 0.167
35
CMB019 Combined Oxidative Phosphorylation Deficiency 8 30 0.158
36
c CRN222 Corneal Endothelial Dystrophy 1, Autosomal Dominant 14 0.158
37
LTR008 Lateral Body Wall Defect 10 0.158
38
PLL001 Pallister-Hall Syndrome 71 0.154
39
P TBR001 Tuberous Sclerosis 91 0.145
40
RTN023 Retinitis 61 0.145
41
P HMN010 Hemangioma 68 0.136
42
SRC014 Sarcoma 63 0.131
43
P NRF002 Neurofibromatosis 100 0.126
44
P ATX002 Ataxia Telangiectasia 93 0.126
45
CMB043 Combined Oxidative Phosphorylation Deficiency 9 21 0.126
46
DPH011 Diaphragmatic Hernia Upper Limb Defects 10 0.126
47
RDC004 Reductional Transverse Limb Defects 10 0.126
48
ANK002 Ankylosing Spondylitis 75 0.115
49
c HPT021 Hepatitis 75 0.115
50
ART031 Aortic Coarctation 47 0.115
51
ADN018 Adenoma 67 0.109
52
NRN002 Neuronitis 64 0.109
53
THR013 Thoracic Outlet Syndrome 54 0.109
54
LVR014 Liver Sarcoma 37 0.109
55
CNG383 Congenital Disorder of Glycosylation, Type Iik 29 0.109
56
CMB013 Combined Oxidative Phosphorylation Deficiency 2 25 0.109
57
HYP178 Hyperthermia Induced Defects 10 0.109
58
P BSL007 Basal Cell Carcinoma 64 0.103
59
c PST050 Postaxial Polydactyly Type a 16 0.103
60
P BCK002 Beckwith-Wiedemann Syndrome 65 0.096
61
P HRT021 Heart Block, Progressive, Type Ia 44 0.096
62
AXL004 Axial Mesodermal Dysplasia Spectrum 26 0.096
63
WDM004 Wiedemann-Steiner Syndrome 22 0.096
64
FLL021 Follicular Basal Cell Carcinoma 11 0.096
65
BRN050 Branchial Arch Defects 10 0.096
66
P PLY006 Polydactyly 54 0.089
67
HYP077 Hypertrichosis 51 0.089
68
c MSN006 Mesenchymoma 42 0.089
69
SYN053 Syndromic Diarrhea 42 0.089
70
c GGN002 Gigantism 40 0.089
71
ANK003 Ankle Defects Short Stature 10 0.089
72
TKY001 Takayasu's Arteritis 72 0.081
73
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 68 0.081
74
c PNC044 Pancreatitis 67 0.081
75
c THY032 Thyroiditis 67 0.081
76
WST001 West Syndrome 64 0.081
77
EPL002 Epilepsy Syndrome 57 0.081
78
P PRT008 Proteus Syndrome 56 0.081
79
PLY012 Polyhydramnios 49 0.081
80
BLD033 Bile Duct Adenoma 45 0.081
81
ENP001 Enophthalmos 35 0.081
82
CMB025 Combined Oxidative Phosphorylation Deficiency 10 28 0.081
83
ACN002 Acanthosis Nigricans 73 0.073
84
CHL065 Cholangiocarcinoma 73 0.073
85
GNG013 Gingivitis 67 0.073
86
DDN006 Duodenitis 62 0.073
87
P RNL014 Renal Cell Carcinoma 59 0.073
88
P CLF002 Cleft Palate 59 0.073
89
HMH002 Hemihypertrophy 50 0.073
90
c RBN009 Robinow Syndrome, Autosomal Recessive 34 0.073
91
P PLY034 Polydactyly Preaxial Type 4 27 0.073
92
PRT015 Partial Third-Nerve Palsy 26 0.073
93
HNM002 Hinman Syndrome 24 0.073
94
TRM014 Terminal Transverse Defects of Arm 18 0.073
95
c WLM005 Wilms Tumor 2 18 0.073
96
ACR045 Acro-Pectoro-Renal Field Defect 13 0.073
97
TRG010 Trigonomacrocephaly Tibial Defect Polydactyly 10 0.073
98
GL3001 Gli3-Related Disorders 8 0.073
99
ART001 Arterial Tortuosity Syndrome 62 0.063
100
c HPT003 Hepatitis a 60 0.063
101
P ADN016 Adenocarcinoma 60 0.063
102
CHR008 Choroiditis 57 0.063
103
BRS051 Breast Disease 56 0.063
104
P CRP001 Carpal Tunnel Syndrome 55 0.063
105
CHN010 Chondroma 55 0.063
106
c CTR002 Cataract 53 0.063
107
c SYN001 Syndactyly 52 0.063
108
P PLR004 Pleuropulmonary Blastoma 51 0.063
109
BLS003 Blastoma 50 0.063
110
PRT093 Proteus Syndrome, Somatic 44 0.063
111
AND003 Andersen-Tawil Syndrome 43 0.063
112
HTR003 Heterotaxy 40 0.063
113
P MNN007 Meningocele 37 0.063
114
CYS024 Cystinosis, Ocular Nonnephropathic 37 0.063
115
ZP7001 Zap70-Related Severe Combined Immunodeficiency 33 0.063
116
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 25 0.063
117
CRD032 Cardioskeletal Syndrome Kuwaiti Type 25 0.063
118
P FML233 Familial Papillary Thyroid Carcinoma with Renal Papillary Neoplasia 25 0.063
119
CMB018 Combined Oxidative Phosphorylation Deficiency 7 25 0.063
120
ULN013 Ulnar/fibula Ray Defect - Brachydactyly 22 0.063
121
HRD009 Hereditary Wilms' Tumor 21 0.063
122
PNL023 Penile Agenesis 18 0.063
123
P BRS047 Breast Cancer 105 0.051
124
CYS001 Cystic Fibrosis 103 0.051
125
P LFR001 Li-Fraumeni Syndrome 93 0.051
126
HPT023 Hepatocellular Carcinoma 89 0.051
127
AND002 Androgen Insensitivity Syndrome 88 0.051
128
P GST019 Gastrointestinal Stromal Tumor 83 0.051
129
P MDL005 Medulloblastoma 82 0.051
130
P RTN008 Retinitis Pigmentosa 81 0.051
131
ACR007 Acromegaly 80 0.051
132
NVD001 Nevoid Basal Cell Carcinoma Syndrome 75 0.051
133
P PRM005 Primary Hyperparathyroidism 72 0.051
134
ULC004 Ulcerative Colitis 72 0.051
135
c HYD006 Hydrocephalus 70 0.051
136
P ANG001 Angelman Syndrome 70 0.051
137
ART019 Aortic Valve Stenosis 68 0.051
138
KLP002 Klippel-Trenaunay Syndrome 67 0.051
139
HPT022 Hepatoblastoma 65 0.051
140
PPL022 Papilloma 64 0.051
141
c HYP069 Hyperparathyroidism 63 0.051
142
P LRY019 Laryngitis 62 0.051
143
ANG020 Angiosarcoma 61 0.051
144
GNG004 Ganglioglioma 60 0.051
145
RTN025 Retinoschisis 60 0.051
146
LPM004 Lipoma 60 0.051
147
NRF007 Neurofibroma 60 0.051
148
P ESN007 Eosinophilia 60 0.051
149
PTN001 Patent Foramen Ovale 60 0.051
150
P PPL005 Papillary Renal Cell Carcinoma 59 0.051
151
ACR008 Acrocallosal Syndrome 59 0.051
152
CLF001 Cleft Lip 59 0.051
153
c KDN018 Kidney Disease 58 0.051
154
NRN001 Neuroendocrine Carcinoma 57 0.051
155
GNG002 Ganglioneuroma 57 0.051
156
c CYS016 Cystic Kidney 56 0.051
157
CRB009 Cerebritis 56 0.051
158
NPH011 Nephroblastoma 56 0.051
159
c CNG015 Congenital Diaphragmatic Hernia 55 0.051
160
NRM004 Neuroma 55 0.051
161
FBR009 Fibrous Dysplasia 54 0.051
162
P THR090 Thrombocythemia 1 54 0.051
163
MCR013 Microphthalmia 53 0.051
164
DRM004 Dermatofibrosarcoma 53 0.051
165
INV006 Inverted Papilloma 52 0.051
166
PPL021 Papilledema 52 0.051
167
NSP002 Nasopharyngitis 49 0.051
168
LNN001 Lennox-Gastaut Syndrome 49 0.051
169
CHY002 Chylomicron Retention Disease 49 0.051
170
c ACR001 Aicardi-Goutieres Syndrome 49 0.051
171
GNG005 Gangliocytoma 47 0.051
172
c AML002 Amelogenesis Imperfecta 47 0.051
173
IMP002 Imperforate Anus 47 0.051
174
P ATS008 Autosomal Dominant Disease 46 0.051
175
c CNG029 Congenital Mesoblastic Nephroma 45 0.051
176
P ATX010 Ataxia Neuropathy Spectrum 44 0.051
177
ANG016 Angiokeratoma 44 0.051
178
INT079 Intrahepatic Cholangiocarcinoma 43 0.051
179
P CNG004 Congenital Epulis 43 0.051
180
TST015 Testicular Disease 42 0.051
181
c EPL003 Epulis 40 0.051
182
PRX034 Peroxisome Disorders 35 0.051
183
IMG001 Image Syndrome 34 0.051
184
c HRM004 Hermansky Pudlak Syndrome 2 33 0.051
185
ABD010 Abdominal Wall Defect 29 0.051
186
DDN009 Duodenal Obstruction 27 0.051
187
c ORF009 Orofaciodigital Syndrome 4 26 0.051
188
XLN018 X-Linked Creatine Deficiency 24 0.051
189
CHN001 Chondroid Lipoma 23 0.051
190
UPP006 Upper Limb Defect - Eye and Ear Abnormalities 23 0.051
191
CHR176 Chromophil Renal Cell Carcinoma 18 0.051
192
NNS029 Non-Secreting Paraganglioma 16 0.051
193
PRM033 Paraomphalocele 12 0.051
194
P AMY001 Amyotrophic Lateral Sclerosis 100 0.036
195
P MLT020 Multiple Sclerosis 82 0.036
196
GLN003 Glanzmann's Thrombasthenia 80 0.036
197
P MYS003 Myasthenia Gravis 79 0.036
198
PRT036 Peritonitis 78 0.036
199
RNL002 Renal Agenesis 77 0.036
200
P TRN020 Turner Syndrome 77 0.036
201
THY028 Thyroid Cancer 76 0.036
202
SKN016 Skin Disease 75 0.036
203
P LYM007 Lymphangioleiomyomatosis 74 0.036
204
P LNG032 Lung Cancer 74 0.036
205
P CNG026 Congenital Heart Defect 73 0.036
206
P JVN014 Juvenile Polyposis Syndrome 73 0.036
207
ATS001 Autistic Disorder 72 0.036
208
P HST010 Histiocytosis 71 0.036
209
P EPD002 Epidermolytic Hyperkeratosis 71 0.036
210
ANR002 Aniridia 71 0.036
211
PSY004 Psychotic Disorder 69 0.036
212
LMY002 Leiomyoma 68 0.036
213
c PRM002 Primary Hyperoxaluria 68 0.036
214
P DDN001 Duodenal Ulcer 68 0.036
215
BRN028 Brain Cancer 67 0.036
216
HYP020 Hyperprolactinemia 67 0.036
217
CHR072 Chordoma 67 0.036
218
P OLG002 Oligodendroglioma 67 0.036
219
STT001 Status Epilepticus 66 0.036
220
P CNG368 Congenital Adrenal Hyperplasia 66 0.036
221
DFC004 Deficiency Anemia 66 0.036
222
P KDN017 Kidney Cancer 66 0.036
223
GLD001 Goldenhar Syndrome 65 0.036
224
PTN002 Patent Ductus Arteriosus 65 0.036
225
P MLN008 Melanoma 65 0.036
226
FLL032 Follicular Thyroid Carcinoma 64 0.036
227
PTT006 Pituitary Adenoma 64 0.036
228
CLB001 Coloboma 63 0.036
229
P LMY004 Leiomyosarcoma 62 0.036
230
PPL002 Papillary Carcinoma 61 0.036
231
P CNJ013 Conjunctivitis 61 0.036
232
P HLP001 Holoprosencephaly 61 0.036
233
IRN001 Iron Deficiency Anemia 61 0.036
234
ALP008 Alopecia 60 0.036
235
ISL001 Islet Cell Tumor 60 0.036
236
c AXN002 Axenfeld-Rieger Syndrome 60 0.036
237
P OST001 Osteopetrosis 60 0.036
238
MCK005 Mckusick-Kaufman Syndrome 59 0.036
239
BRT002 Birt-Hogg-Dube Syndrome 59 0.036
240
INT051 Intussusception 59 0.036
241
c SCL016 Scleroderma 59 0.036
242
WLL003 Williams Syndrome 58 0.036
243
LRN003 Learning Disability 58 0.036
244
RTN018 Retinal Disease 58 0.036
245
LYM022 Lymphangioma 57 0.036
246
ARC002 Arachnoiditis 57 0.036
247
GYN001 Gynecomastia 57 0.036
248
P SPH001 Sapho Syndrome 56 0.036
249
HYP063 Hypersplenism 56 0.036
250
SWT001 Sweat Gland Carcinoma 56 0.036
251
GLM008 Glomus Tumor 56 0.036
252
c HYP060 Hyperinsulinism 56 0.036
253
CDL003 Caudal Regression Syndrome 55 0.036
254
SMT002 Smooth Muscle Tumor 55 0.036
255
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.036
256
NRL005 Neurilemmoma 55 0.036
257
BRN016 Bronchogenic Carcinoma 55 0.036
258
ANG018 Angiomyolipoma 54 0.036
259
PPL006 Papillon-Lefevre Disease 54 0.036
260
RHB003 Rhabdomyosarcoma 54 0.036
261
MRK001 Merkel Cell Carcinoma 54 0.036
262
c INT070 Intestinal Obstruction 54 0.036
263
MYL003 Myeloid Sarcoma 54 0.036
264
SCL017 Sclerosing Hemangioma 54 0.036
265
c LRG001 Large Cell Carcinoma 53 0.036
266
MRG003 Marginal Zone B-Cell Lymphoma 53 0.036
267
SDR002 Siderosis 53 0.036
268
P CRV039 Cervicitis 52 0.036
269
P EPT012 Epithelioid Sarcoma 52 0.036
270
URC002 Urea Cycle Disorder 51 0.036
271
CHL004 Cholelithiasis 51 0.036
272
OBS001 Obstructive Jaundice 51 0.036
273
CYS009 Cystadenoma 51 0.036
274
OSS001 Ossifying Fibroma 50 0.036
275
SKN023 Skin Tag 50 0.036
276
P JVN003 Juvenile Xanthogranuloma 50 0.036
277
SCH016 Schimke Immunoosseous Dysplasia 49 0.036
278
PLM018 Pulmonary Sclerosing Hemangioma 48 0.036
279
c HYD002 Hydronephrosis 48 0.036
280
c OPT004 Optic Atrophy 46 0.036
281
PLX002 Plexiform Neurofibroma 46 0.036
282
SYR002 Syringocystadenoma Papilliferum 45 0.036
283
LBL001 Lobular Neoplasia 44 0.036
284
GYR001 Gyrate Atrophy 44 0.036
285
c ATR001 Atrioventricular Septal Defect 44 0.036
286
MCR019 Microglandular Adenosis 44 0.036
287
ORL010 Oral-Facial-Digital Syndrome Type I 43 0.036
288
c HYP087 Hypotrichosis 43 0.036
289
TTR016 Tetra-Amelia Syndrome 43 0.036
290
P CYS007 Cystic Nephroma 42 0.036
291
HRD028 Hereditary Folate Malabsorption 42 0.036
292
PLN006 Poland Syndrome 42 0.036
293
c WLM002 Wilms Tumor 41 0.036
294
HPT006 Hepatic Angiomyolipoma 41 0.036
295
HYP022 Hypohidrosis 41 0.036
296
OBS004 Obstructive Hydrocephalus 41 0.036
297
EPT011 Epithelioid Leiomyosarcoma 39 0.036
298
P WLM008 Wilms Tumor, Type 1 39 0.036
299
HMG020 Hmg Coa Lyase Deficiency 38 0.036
300
MYF001 Myofibroma 37 0.036
301
P ATR010 Atrial Heart Septal Defect 37 0.036
302
SPN012 Spindle Cell Hemangioma 37 0.036
303
ASP008 Aspiration Pneumonitis 36 0.036
304
MCK002 Meckel's Diverticulum 36 0.036
305
c JBR016 Joubert Syndrome 10 36 0.036
306
CRB027 Cerebellar Disease 35 0.036
307
ADS002 Adie Syndrome 33 0.036
308
ANG004 Angioid Streaks 33 0.036
309
BSC004 Buschke Ollendorff Syndrome 32 0.036
310
FCL003 Facial Hemiatrophy 32 0.036
311
DFC001 Defective Apolipoprotein B-100 32 0.036
312
HYP265 Hypotonia 30 0.036
313
GST036 Gastric Leiomyosarcoma 30 0.036
314
BRS061 Breast Sarcoma 30 0.036
315
DPH006 Diaphragmatic Eventration 29 0.036
316
IMR001 Imerslund-Grasbeck Syndrome 29 0.036
317
DYS036 Dysequilibrium Syndrome 28 0.036
318
EPD053 Epidermal Nevus, Somatic 28 0.036
319
P MLT049 Multiple Familial Trichoepithelioma 1 27 0.036
320
RNL018 Renal Pelvis Carcinoma 26 0.036
321
EST004 Estrogen Excess 25 0.036
322
LVR002 Liver Angiosarcoma 25 0.036
323
GLF001 Gliofibroma 25 0.036
324
NNF003 Non-Familial Renal Cell Carcinoma 25 0.036
325
EYC002 Eye Carcinoma 24 0.036
326
P ORF012 Orofaciodigital Syndrome 8 24 0.036
327
GNG015 Gingival Fibromatosis with Hypertrichosis 24 0.036
328
PSD008 Pseudopapilledema 24 0.036
329
P PLY057 Polydactyly, Postaxial, Types A1 and B 24 0.036
330
c LNG035 Lung Large Cell Carcinoma 23 0.036
331
P ADL014 Adult Mesoblastic Nephroma 22 0.036
332
c ORF008 Orofaciodigital Syndrome 3 22 0.036
333
ACR037 Acromegaloid Facial Appearance Syndrome 22 0.036
334
BLD032 Bile Duct Adenocarcinoma 21 0.036
335
c BNG076 Benign Exophthalmos Syndrome 21 0.036
336
c BNG012 Benign Mesenchymoma 20 0.036
337
TBR003 Tuberculous Epididymitis 19 0.036
338
P PSD086 Pseudoarthrosis 19 0.036
339
SCR020 Sacral Defect with Anterior Meningocele 19 0.036
340
MYX007 Myxosarcoma 19 0.036
341
SGM007 Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus 19 0.036
342
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 17 0.036
343
RNL005 Renal Wilms' Tumor 17 0.036
344
LMB013 Limb Reduction Defect 17 0.036
345
ART030 Aortic Arch Interruption 17 0.036
346
ODN006 Odontoma 16 0.036
347
NVS012 Nevus Comedonicus Syndrome 15 0.036
348
THY057 Thyroid Hormonogenesis Defect I 14 0.036
349
CRT057 Critical Congenital Heart Disease 14 0.036
350
CHR469 Choristoma 13 0.036
351
ADN025 Adenoameloblastoma 13 0.036
352
BLD035 Bile Duct Cystadenoma 13 0.036
353
RDC003 Red Cell Phospholipid Defect with Hemolysis 12 0.036
354
INT049 Intrahepatic Bile Duct Adenoma 12 0.036
355
MLN009 Melanotic Neurilemmoma 11 0.036
356
NSL001 Nasal Cavity Inverting Papilloma 11 0.036
357
PNS014 Penis Agenesis 11 0.036
358
SBC013 Sebaceous Basal Cell Carcinoma 10 0.036
359
ANG024 Angiofollicular Lymph Hyperplasia 10 0.036
360
OVR074 Overgrowth Radial Ray Defect Arthrogryposis 10 0.036
361
MCH008 Michelin Tire Baby Syndrome 8 0.036