Search results for "delayed puberty"

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

580 hits were found for 'delayed puberty'

# Family MCID Name MIFTS Score
1
P PRC019 Precocious Puberty 53 0.566
2
P OBS005 Obesity 91 0.145
3
HYP231 Hypothalamic Hamartomas 35 0.134
4
HYP080 Hypogonadism 54 0.128
5
INS024 Insulin-Like Growth Factor I 75 0.125
6
NRN002 Neuronitis 40 0.124
7
GND003 Gonadal Disease 41 0.124
8
P HYP086 Hypothyroidism 63 0.115
9
GRW007 Growth Hormone Deficiency 49 0.112
10
CRB009 Cerebritis 36 0.111
11
HYP064 Hypogonadotropism 38 0.109
12
P EPL164 Epilepsy 60 0.101
13
CNG368 Congenital Adrenal Hyperplasia 60 0.093
14
P TRN020 Turner Syndrome 64 0.093
15
FML039 Female Reproductive System Disease 49 0.093
16
P THY032 Thyroiditis 57 0.088
17
PRS047 Prostatitis 56 0.084
18
ACR002 Acrocapitofemoral Dysplasia 35 0.082
19
RPR002 Reproductive System Disease 45 0.082
20
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 35 0.081
21
P PLY011 Polycystic Ovary Syndrome 64 0.081
22
P PRD006 Prader-Willi Syndrome 64 0.081
23
KDS001 Kid Syndrome 53 0.079
24
BND014 Bone Development Disease 40 0.078
25
P HYP265 Hypotonia 39 0.077
26
CHL071 Child Syndrome 58 0.076
27
P NRF002 Neurofibromatosis 66 0.075
28
P HYD006 Hydrocephalus 68 0.074
29
P BRS047 Breast Cancer 100 0.074
30
SXD001 Sex Differentiation Disease 39 0.074
31
P PNC044 Pancreatitis 62 0.073
32
ADN018 Adenoma 59 0.073
33
P MCR010 Microcephaly 60 0.072
34
P INT063 Intellectual Disability 46 0.072
35
AMN001 Amenorrhea 51 0.072
36
P KLL001 Kallmann Syndrome 61 0.071
37
NTR005 Nutritional Deficiency Disease 51 0.070
38
P LKM002 Leukemia 70 0.070
39
BRN071 Brain Injury 51 0.070
40
WLL001 Williams-Beuren Syndrome 61 0.069
41
ALR002 Al-Raqad Syndrome 36 0.069
42
SLP010 Slipped Capital Femoral Epiphysis 32 0.069
43
KLN001 Klinefelter's Syndrome 52 0.069
44
ACD009 Acid-Labile Subunit, Deficiency of 37 0.067
45
VGN023 Vaginitis 41 0.066
46
P INF032 Infertility 61 0.066
47
c ATM003 Autoimmune Thyroiditis 59 0.065
48
P AST007 Astrocytoma 66 0.065
49
P OVR049 Ovarian Disease 54 0.065
50
MDS022 Mediastinitis 37 0.065
51
c CNG006 Congenital Hypothyroidism 59 0.064
52
XLN010 X-Linked Adrenal Hypoplasia Congenita 36 0.063
53
PSD009 Pseudohermaphroditism 39 0.063
54
P GND004 Gonadal Dysgenesis 51 0.063
55
P RCK004 Rickets 59 0.063
56
CRN036 Craniopharyngioma 54 0.063
57
P NRC002 Narcolepsy 62 0.062
58
END072 Endotheliitis 41 0.062
59
P MYP004 Myopathy 67 0.062
60
P THL005 Thalassemia 61 0.061
61
SXL003 Sexual Disorder 45 0.061
62
CRD001 Cardiac Tamponade 43 0.061
63
P PLY019 Polyneuropathy 53 0.061
64
FBR009 Fibrous Dysplasia 44 0.060
65
P HMP007 Hemophilia 55 0.060
66
PRP016 Paraplegia 49 0.059
67
ARC002 Arachnoiditis 38 0.059
68
FLT006 Floating-Harbor Syndrome 43 0.058
69
TRM010 Traumatic Brain Injury 52 0.057
70
P HPT021 Hepatitis 74 0.057
71
PHN003 Phenylketonuria 71 0.057
72
c HMP004 Hemophilia B 61 0.057
73
c NRF018 Neurofibromatosis, Type 1 69 0.057
74
HYP020 Hyperprolactinemia 58 0.057
75
P TRT010 Teratoma 49 0.057
76
c CNG401 Congenital Heart Disease 67 0.056
77
PLM001 Pulmonary Tuberculosis 69 0.056
78
MLR004 Malaria 80 0.056
79
ARC007 Arachnoid Cysts 39 0.055
80
DSS008 Disease of Mental Health 48 0.055
81
P GLM045 Glioma 53 0.055
82
P HST010 Histiocytosis 56 0.054
83
PNL021 Pineal Cyst 16 0.054
84
GST050 Gastrointestinal System Disease 58 0.054
85
GST045 Gastroenteritis 59 0.054
86
CHR008 Choroiditis 43 0.053
87
RHB003 Rhabdomyosarcoma 55 0.053
88
P UTR038 Uterine Disease 38 0.053
89
P HRT032 Heart Disease 64 0.053
90
STR067 Stroke, Ischemic 74 0.053
91
P ATS007 Autism Spectrum Disorder 64 0.053
92
HND003 Hand-Foot-Uterus Syndrome 46 0.052
93
ARM001 Aromatase Deficiency 55 0.052
94
P HYP040 Hypospadias 58 0.052
95
BNS002 Bone Structure Disease 37 0.052
96
P ANG001 Angelman Syndrome 62 0.052
97
SMT008 Smith-Magenis Syndrome 49 0.052
98
P SPS003 Spastic Diplegia 49 0.052
99
P MSC005 Muscular Dystrophy 64 0.052
100
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 60 0.052
101
TMP012 Temple Syndrome 39 0.052
102
P NNT009 Neonatal Diabetes Mellitus 50 0.052
103
ISL003 Isolated Growth Hormone Deficiency 39 0.052
104
HPT023 Hepatocellular Carcinoma 90 0.051
105
MLR007 Male Reproductive System Disease 36 0.051
106
ACR012 Aicardi Syndrome 45 0.051
107
LNG024 Langerhans-Cell Histiocytosis 64 0.051
108
TRP009 Triple X Syndrome 40 0.051
109
PHL006 Phelan-Mcdermid Syndrome 47 0.050
110
URT001 Urethritis 39 0.050
111
MVD001 Moved to 60 0.050
112
DWN001 Down Syndrome 65 0.050
113
BLP004 Blepharophimosis 38 0.050
114
PRV006 Pervasive Developmental Disorder 49 0.050
115
P KDN018 Kidney Disease 64 0.050
116
LPM004 Lipoma 59 0.050
117
P HYP613 Hypophosphatemic Rickets 50 0.050
118
LCH009 Lichen Sclerosus 43 0.050
119
PRT036 Peritonitis 65 0.049
120
ACQ007 Acquired Immunodeficiency Syndrome 60 0.049
121
c PST041 Posterior Urethral Valves 46 0.049
122
CRD003 Cardiac Sarcoidosis 39 0.049
123
CRY002 Cryptorchidism 61 0.049
124
P NRN021 Neuronal Ceroid Lipofuscinosis 58 0.049
125
INT075 Intracranial Hypertension 52 0.049
126
VND001 Vein Disease 51 0.049
127
SPC003 Specific Developmental Disorder 39 0.049
128
P RHM011 Rheumatoid Arthritis 87 0.048
129
P LPR003 Leprosy 70 0.048
130
P HYP071 Hypersensitivity Reaction Type Ii Disease 46 0.048
131
CRT015 Carotid Artery Occlusion 43 0.048
132
P MSC033 Muscle Disorders 52 0.048
133
PLC008 Placenta Disease 33 0.047
134
SMT004 Smith-Lemli-Opitz Syndrome 66 0.047
135
48X003 48,xxyy Syndrome 27 0.047
136
DNC004 Diencephalic Syndrome 28 0.047
137
P FRG001 Fragile X Syndrome 68 0.047
138
P CMR001 Camurati-Engelmann Disease 63 0.047
139
ACT017 Acute Chest Syndrome 50 0.047
140
LRN004 Laron Dwarfism 58 0.047
141
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.047
142
SPS057 Spasticity 41 0.047
143
P PLC011 Pilocytic Astrocytoma 59 0.047
144
PTT009 Pituitary Gland Disease 45 0.047
145
HPT022 Hepatoblastoma 57 0.047
146
HMH002 Hemihypertrophy 37 0.047
147
P AST005 Asthma 80 0.046
148
AYM001 Ayme-Gripp Syndrome 40 0.046
149
MSC004 Muscle Tissue Disease 35 0.046
150
P PTS002 Ptosis 56 0.046
151
IMM107 Immunodeficiency 31c, Autosomal Dominant 27 0.046
152
P HYP024 Hypoparathyroidism 52 0.046
153
P LYM026 Lymphoblastic Leukemia 60 0.046
154
CHR074 Choriocarcinoma 45 0.046
155
c INF069 Infantile Neuroaxonal Dystrophy 1 44 0.045
156
P TBR001 Tuberous Sclerosis 68 0.045
157
VNW007 Von Willebrand Disease 57 0.045
158
c HMP029 Hemophilia a 61 0.045
159
LPD011 Lipoid Adrenal Hyperplasia 53 0.045
160
MXD032 Mixed Germ Cell Tumor 31 0.045
161
P RSP003 Respiratory Failure 68 0.045
162
P VSC005 Vesicoureteral Reflux 53 0.045
163
CNN005 Connective Tissue Disease 60 0.045
164
HPR003 Heparin-Induced Thrombocytopenia 45 0.045
165
P CMP008 Compartment Syndrome 46 0.045
166
P ACT135 Acute Graft Versus Host Disease 52 0.045
167
P CHL066 Cholangitis 48 0.045
168
PCK002 Pick Disease 66 0.045
169
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 44 0.044
170
P PLY006 Polydactyly 56 0.044
171
P MCP010 Mucopolysaccharidosis 58 0.044
172
P DBT005 Diabetes Insipidus 53 0.044
173
MLK006 Milk Allergy 50 0.044
174
NRM005 Neuromuscular Disease 56 0.044
175
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.044
176
PLM010 Pulmonary Edema 56 0.044
177
c CRN214 Coronary Heart Disease 5 22 0.044
178
BLD054 Blood Protein Disease 38 0.044
179
LRN003 Learning Disability 49 0.043
180
BNF002 Bone Fracture 46 0.043
181
P STS008 Sotos Syndrome 1 49 0.043
182
PLM033 Pulmonary Embolism 59 0.043
183
PLS007 Plasmodium Falciparum Malaria 56 0.043
184
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 25 0.043
185
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.043
186
c THR092 Thrombophilia Due to Thrombin Defect 56 0.043
187
EMB004 Embryonal Carcinoma 55 0.043
188
MYL020 Myelomeningocele 50 0.043
189
ADR008 Adrenal Adenoma 49 0.043
190
FCT001 Factor Viii Deficiency 41 0.043
191
LYM043 Lymphocytic Hypophysitis 33 0.043
192
P BLD051 Blood Coagulation Disease 44 0.043
193
ACN011 Acne 63 0.043
194
ULN003 Ulnar-Mammary Syndrome 45 0.043
195
c LCL006 Localized Scleroderma 60 0.043
196
OLV004 Oliver-Mcfarlane Syndrome 29 0.043
197
PRL009 Prolactinoma 63 0.043
198
EST007 Estrogen Resistance 43 0.043
199
ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 16 0.043
200
c LTN016 Late-Infantile Neuronal Ceroid Lipofuscinosis 42 0.043
201
ANV001 Anovulation 44 0.043
202
THL018 Thalassemia Major 31 0.043
203
FBR012 Fabry Disease 68 0.042
204
P SLV001 Silver-Russell Syndrome 54 0.042
205
TYP011 Typhus 57 0.042
206
ADL002 Adult Syndrome 53 0.042
207
RHM027 Rheumatic Disease 55 0.042
208
c HPT003 Hepatitis a 55 0.042
209
VSC011 Vasculitis 62 0.042
210
WLL006 Wells Syndrome 57 0.042
211
P HMR012 Hemorrhagic Fever 55 0.042
212
GDS001 Good Syndrome 46 0.042
213
OPT009 Optic Neuritis 48 0.042
214
GNR004 Generalized Anxiety Disorder 49 0.042
215
P OVR042 Ovarian Cancer 73 0.041
216
CSY001 C Syndrome 49 0.041
217
SLP005 Sleep Disorder 52 0.041
218
PNC034 Pancreas Disease 56 0.041
219
c PNC106 Pancreatic Agenesis 1 31 0.041
220
P PRM019 Premature Ovarian Failure 65 0.040
221
P PSR002 Psoriasis 63 0.040
222
TST015 Testicular Disease 47 0.040
223
HYP691 Hypomelanosis of Ito 44 0.040
224
P ECL001 Eclampsia 55 0.040
225
P SNS014 Sinusitis 66 0.040
226
P TXP001 Toxoplasmosis 61 0.040
227
P HYP069 Hyperparathyroidism 57 0.040
228
c CNG021 Congenital Toxoplasmosis 46 0.040
229
DCH001 Duchenne Muscular Dystrophy 81 0.040
230
c JVN010 Juvenile Rheumatoid Arthritis 65 0.040
231
LSH001 Leishmaniasis 63 0.040
232
PRC002 Paracoccidioidomycosis 57 0.040
233
LVR012 Liver Cirrhosis 71 0.040
234
P GRV001 Graves' Disease 62 0.040
235
P ADL010 Adult Respiratory Distress Syndrome 60 0.040
236
ACT049 Acute Disseminated Encephalomyelitis 50 0.040
237
LMB002 Lambert-Eaton Myasthenic Syndrome 47 0.040
238
HTC002 Hutchinson-Gilford Progeria 51 0.040
239
c VRL010 Viral Hepatitis 60 0.040
240
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.040
241
CYT005 Cytomegalovirus Retinitis 48 0.040
242
CYS001 Cystic Fibrosis 87 0.039
243
CYS010 Cystinosis 51 0.039
244
SBS003 Substance Abuse 54 0.039
245
SYN005 Synostosis 44 0.039
246
P ATX030 Ataxia-Telangiectasia 78 0.039
247
P ADD001 Addison's Disease 60 0.039
248
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.039
249
P ALX003 Alexander Disease 64 0.039
250
JCB001 Jacobsen Syndrome 49 0.039
251
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 35 0.039
252
ACR041 Acromelic Frontonasal Dysostosis 45 0.039
253
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59 0.039
254
P RBL001 Rubella 54 0.039
255
SCR008 Scrub Typhus 55 0.039
256
WHP001 Whipple Disease 49 0.039
257
DBT001 Diabetic Ketoacidosis 45 0.039
258
ECH003 Echinococcosis 53 0.039
259
LPR001 Lepromatous Leprosy 50 0.039
260
c HPT007 Hepatitis E 51 0.039
261
BRT030 Birth Defects 44 0.039
262
SYM002 Sympathetic Ophthalmia 41 0.039
263
RVL002 Ruvalcaba Syndrome 32 0.039
264
P RTT002 Rett Syndrome 77 0.038
265
P TYS001 Tay-Sachs Disease 72 0.038
266
GTL001 Gitelman Syndrome 60 0.038
267
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 35 0.038
268
LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 32 0.038
269
RBS003 Rabson-Mendenhall Syndrome 55 0.038
270
P END044 Endometriosis 53 0.038
271
c PRC016 Pre-Eclampsia 57 0.038
272
NRN004 Neuroendocrine Tumor 54 0.038
273
PHS005 Peho Syndrome 31 0.038
274
FBR026 Fibromatosis Multiple Non Ossifying 17 0.038
275
P LPS004 Lupus Erythematosus 63 0.038
276
WLF002 Wolf-Hirschhorn Syndrome 50 0.038
277
c HPT016 Hepatitis B 61 0.038
278
P NRV006 Nervous System Cancer 62 0.038
279
P CRN178 Coronary Heart Disease 6 22 0.038
280
ADJ001 Adjustment Disorder 38 0.038
281
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 31 0.037
282
CHR103 Charge Syndrome 64 0.037
283
P MYS003 Myasthenia Gravis 64 0.037
284
ALS001 Alstrom Syndrome 52 0.037
285
MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 33 0.037
286
ALL026 Allergic Hypersensitivity Disease 53 0.037
287
TRC008 Trachoma 50 0.037
288
GNG013 Gingivitis 61 0.037
289
RHM001 Rheumatic Fever 50 0.037
290
SPT005 Spotted Fever 56 0.037
291
PLS006 Plasmodium Vivax Malaria 52 0.037
292
P MMP001 Mumps 56 0.037
293
c ATM011 Autoimmune Hepatitis 62 0.037
294
HMR002 Hemarthrosis 47 0.037
295
MRC001 Marchiafava Bignami Disease 33 0.037
296
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 18 0.037
297
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.037
298
ALV002 Alveolar Echinococcosis 50 0.037
299
RCR004 Recurrent Respiratory Papillomatosis 42 0.037
300
DNG002 Dengue Hemorrhagic Fever 60 0.037
301
P UVT001 Uveitis 60 0.037
302
PPL022 Papilloma 54 0.037
303
P PNV001 Panuveitis 50 0.037
304
PLC007 Placental Abruption 46 0.037
305
SPL018 Splenomegaly 45 0.037
306
ART006 Arthus Reaction 40 0.037
307
P END033 Endocarditis 52 0.037
308
CRV043 Cervical Dystonia 43 0.037
309
c ANT034 Anterior Uveitis 49 0.037
310
P HYP263 Hypersomnia 39 0.037
311
SKL014 Skeletal Dysplasia 44 0.037
312
MLT006 Multidrug-Resistant Tuberculosis 46 0.037
313
P PMP005 Pemphigus Vulgaris 47 0.037
314
SPN185 Spinal Cord Infarction 36 0.037
315
OST115 Osteonecrosis of the Jaw 37 0.037
316
SKL017 Skeletal Dysplasias 41 0.037
317
CHR415 Chronic Venous Leg Ulcers 31 0.037
318
P SCH015 Schizophrenia 78 0.037
319
P CLC005 Celiac Disease 67 0.037
320
P PLM036 Pulmonary Fibrosis 69 0.037
321
P MSC003 Muscular Atrophy 51 0.037
322
FML037 Female Breast Cancer 49 0.037
323
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 21 0.037
324
c CRN175 Coronary Heart Disease 4 19 0.037
325
SCK003 Sickle Cell Anemia 72 0.035
326
CYS036 Cystinosis, Nephropathic 40 0.035
327
P ALG002 Alagille Syndrome 70 0.035
328
PTC001 Potocki-Shaffer Syndrome 37 0.035
329
MDY003 Mody, Type Ii 36 0.035
330
MDD011 Mood Disorder 60 0.035
331
BNC003 Bone Cancer 44 0.035
332
P SCL018 Scoliosis 56 0.035
333
VSC006 Vascular Cancer 51 0.035
334
SCK005 Sickle Cell Disease 51 0.035
335
P AGM001 Agammaglobulinemia 63 0.035
336
CLF001 Cleft Lip 48 0.035
337
P FRD001 Friedreich Ataxia 62 0.035
338
c GLY060 Glycogen Storage Disease Ia 57 0.035
339
c MCP004 Mucopolysaccharidosis Iv 60 0.035
340
P CSH001 Cushing's Syndrome 65 0.035
341
WRN001 Werner Syndrome 69 0.035
342
CHR029 Choroid Plexus Papilloma 55 0.035
343
KWS002 Kawasaki Disease 70 0.035
344
3BT003 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 34 0.035
345
GLL022 Guillain-Barre Syndrome 58 0.035
346
WGN006 Wegener Granulomatosis 63 0.035
347
c ATM010 Autoimmune Hemolytic Anemia 59 0.035
348
OVR029 Ovarian Hyperstimulation Syndrome 59 0.035
349
THR016 Thrombophlebitis 55 0.035
350
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.035
351
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 36 0.035
352
OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 25 0.035
353
P PRP029 Porphyria 56 0.035
354
PRP030 Purpura 60 0.035
355
GGR001 Geographic Tongue 45 0.035
356
CRM001 Crimean-Congo Hemorrhagic Fever 53 0.035
357
ASP001 Asperger Syndrome 49 0.035
358
MYC002 Mycobacterium Avium Complex Disease 52 0.035
359
SLD003 Sialadenitis 45 0.035
360
LCH011 Lichen Planopilaris 40 0.035
361
P PRN026 Porencephaly 47 0.035
362
MXD005 Mixed Connective Tissue Disease 63 0.035
363
FCL010 Focal Epithelial Hyperplasia 38 0.035
364
END021 Endomyocardial Fibrosis 47 0.035
365
CLN003 Clonorchiasis 46 0.035
366
CHR001 Churg-Strauss Syndrome 48 0.035
367
MCR088 Microscopic Polyangiitis 47 0.035
368
INF034 Infective Endocarditis 50 0.035
369
NPH004 Nephropathia Epidemica 39 0.035
370
P BRY005 Beryllium Disease 39 0.035
371
PTY001 Pityriasis Rosea 42 0.035
372
OLG001 Oligospermia 39 0.035
373
c ATM024 Autoimmune Pancreatitis 46 0.035
374
PRT018 Portal Vein Thrombosis 48 0.035
375
19P001 19p13.12 Microdeletion Syndrome 14 0.035
376
PNT038 Peanut Allergy 44 0.035
377
NNT049 Nontuberculous Mycobacterial Lung Disease 41 0.035
378
c CHR576 Chronic Beryllium Disease 39 0.035
379
PDC001 Podoconiosis 35 0.035
380
P PRM108 Primary Progressive Multiple Sclerosis 47 0.035
381
c INT064 Intermediate Uveitis 47 0.035
382
ANC002 Anca-Associated Vasculitis 43 0.035
383
MCR191 Microscopic Colitis 46 0.035
384
LTX001 Latex Allergy 38 0.035
385
c SVR056 Severe Hemophilia a 44 0.035
386
RHM014 Rheumatoid Vasculitis 42 0.035
387
FNC050 Functioning Gonadotropic Adenoma 11 0.035
388
IDP064 Idiopathic Neutropenia 43 0.035
389
MTL005 Metal Allergy 34 0.035
390
c TYP024 Type Ii Mixed Cryoglobulinemia 35 0.035
391
IDP074 Idiopathic Bronchiectasis 34 0.035
392
c SYS001 Systemic Lupus Erythematosus 87 0.034
393
GLT021 Glutaricaciduria, Type I 47 0.034
394
LWS003 Lowe Syndrome 61 0.034
395
P DMN001 Diamond-Blackfan Anemia 69 0.034
396
P CRN015 Cornelia De Lange Syndrome 65 0.034
397
P MYL006 Myeloid Leukemia 67 0.034
398
P PRT013 Portal Hypertension 61 0.034
399
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 28 0.034
400
PRP007 Priapism 48 0.034
401
P DRR001 Diarrhea 60 0.034
402
P PLT008 Pili Torti 19 0.034
403
c CRN172 Coronary Heart Disease 3 19 0.034
404
HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 11 0.034
405
c GCH017 Gaucher Disease, Type Iii 44 0.033
406
CRD119 Cardiac Arrest 63 0.033
407
INT007 Intermediate Coronary Syndrome 52 0.033
408
OCY001 Oocyte Maturation Defect 31 0.033
409
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 23 0.033
410
c HMG001 Hemoglobin C Disease 46 0.033
411
GRW023 Growth Hormone Deficiency, Isolated Partial 26 0.033
412
LKC003 Leukocyte Disease 45 0.033
413
GLC008 Glucose Metabolism Disease 44 0.033
414
WTH001 Withdrawal Disorder 36 0.033
415
FCT007 Factor Vii Deficiency 60 0.032
416
c TBR024 Tuberous Sclerosis-1 50 0.032
417
P KBK002 Kabuki Syndrome 1 49 0.032
418
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 35 0.032
419
SND002 Sneddon Syndrome 45 0.032
420
FRS002 Frasier Syndrome 48 0.032
421
SCH014 Schistosomiasis 59 0.032
422
c 46X001 46 Xy Gonadal Dysgenesis 49 0.032
423
P ANT006 Antiphospholipid Syndrome 60 0.032
424
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 19 0.032
425
CYS008 Cystic Echinococcosis 48 0.032
426
P MSC007 Muscle Hypertrophy 55 0.032
427
PRT014 Protein S Deficiency 54 0.032
428
ADL030 Adult-Onset Still's Disease 57 0.032
429
SPL011 Spleen Cancer 38 0.032
430
TNG001 Tungiasis 38 0.032
431
FCT005 Factor Xiii Deficiency 42 0.032
432
HLL004 Hellp Syndrome 48 0.032
433
P GRS003 Griscelli Syndrome 48 0.032
434
PRT011 Protein C Deficiency 52 0.032
435
MCC002 Mucocutaneous Leishmaniasis 45 0.032
436
ALC006 Alcoholic Hepatitis 60 0.032
437
c ACQ005 Acquired Thrombocytopenia 35 0.032
438
c SBC035 Subacute Cutaneous Lupus Erythematosus 47 0.032
439
CTS005 Catastrophic Antiphospholipid Syndrome 39 0.032
440
DSC009 Discoid Lupus Erythematosus 40 0.032
441
VRT001 Vertebral Artery Occlusion 35 0.032
442
CNG101 Congenital Human Immunodeficiency Virus 21 0.032
443
FRN014 Fournier Gangrene 33 0.032
444
VGN019 Vaginal Discharge 32 0.032
445
BLT003 Blue Toe Syndrome 33 0.032
446
OVR063 Overnutrition 49 0.032
447
ART110 Arteritic Anterior Ischemic Optic Neuropathy 32 0.032
448
SKN016 Skin Disease 69 0.031
449
EWN003 Ewing Sarcoma 63 0.031
450
ANX002 Anxiety Disorder 67 0.031
451
c GCH015 Gaucher Disease, Type I 52 0.031
452
NRR002 Norrie Disease 60 0.031
453
LPR018 Leprechaunism 59 0.031
454
LPP001 Lipoprotein Lipase Deficiency 63 0.031
455
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 24 0.031
456
c EPD044 Epidermolysis Bullosa Dystrophica, Ar 36 0.031
457
END035 Endocrine Gland Cancer 50 0.031
458
EXT022 Exotropia 37 0.031
459
P MLT074 Multiple Endocrine Neoplasia 55 0.031
460
HYD002 Hydronephrosis 48 0.031
461
c PLT022 Pili Torti, Early-Onset 18 0.031
462
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.031
463
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 34 0.031
464
c CRN173 Coronary Heart Disease 8 19 0.031
465
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 28 0.031
466
P OST002 Osteoporosis 63 0.029
467
P GCH001 Gaucher's Disease 63 0.029
468
P WLF004 Wolfram Syndrome 62 0.029
469
ARS001 Aarskog-Scott Syndrome 52 0.029
470
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.029
471
TST014 Testicular Cancer 55 0.029
472
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.029
473
CHN016 Cohen Syndrome 55 0.029
474
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.029
475
c MNT109 Mental Retardation, X-Linked, Syndromic 15 30 0.029
476
MLN007 Male Infertility 56 0.029
477
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 25 0.029
478
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.029
479
PPL021 Papilledema 47 0.029
480
SKN027 Skin Conditions 44 0.029
481
GRW026 Growth Hormone Insensitivity, Partial 23 0.029
482
ANR018 Anorchia 35 0.029
483
FDL002 Food Allergy 56 0.029
484
GNC005 Geniculate Ganglionitis 27 0.029
485
FCL011 Facial Nerve Disease 37 0.029
486
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 14 0.029
487
GGN002 Gigantism 29 0.029
488
8PN001 8p Inverted Duplication/deletion Syndrome 12 0.029
489
PTT041 Pituitary Stalk Interruption Syndrome 40 0.029
490
FNC009 Fanconi-Bickel Syndrome 51 0.027
491
GLC006 Galactosemia 64 0.027
492
c MLT136 Multiple Endocrine Neoplasia 1 68 0.027
493
c TRC092 Trichorhinophalangeal Syndrome, Type I 44 0.027
494
BCK001 Becker Muscular Dystrophy 68 0.027
495
TWN003 Townes-Brocks Syndrome 55 0.027
496
WLS004 Wilson-Turner Syndrome 31 0.027
497
46X003 46,xx Testicular Disorder of Sex Development 47 0.027
498
c LPR012 Leopard Syndrome 1 29 0.027
499
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.027
500
HYP308 Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 25 0.027
501
PLY023 Polycystic Liver Disease 57 0.027
502
LPD008 Lipid Metabolism Disorder 42 0.027
503
RFM001 Roifman Syndrome 24 0.027
504
GNG012 Gingival Overgrowth 52 0.027
505
MYX004 Myxedema 36 0.027
506
P PRD008 Periodontitis 46 0.027
507
FXF002 Fox-Fordyce Disease 37 0.027
508
c SNG011 Singleton-Merten Syndrome 1 18 0.027
509
CHR362 Chromosome 17q21.31 Duplication Syndrome 17 0.027
510
PTT016 Patterson Pseudoleprechaunism Syndrome 16 0.027
511
49X001 49, Xxxxx 19 0.027
512
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 0.027
513
P EXN002 Exanthem 57 0.027
514
OPT003 Opiate Dependence 49 0.027
515
ORC001 Orchitis 35 0.027
516
DFN313 Deafness-Hypogonadism Syndrome 13 0.027
517
CLC007 Calcium Metabolism Disease 39 0.027
518
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 36 0.027
519
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 20 0.027
520
46X012 46,xy Partial Gonadal Dysgenesis 35 0.027
521
HRN021 Hernández-Aguirre Negrete Syndrome 10 0.027
522
P OST028 Osteochondroma 45 0.027
523
RPD008 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome Syndrome 15 0.027
524
INH016 Inherited Isolated Adrenal Insufficiency Due to Cyp11a1 Deficiency 12 0.027
525
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 61 0.025
526
CRB011 Cerebrotendinous Xanthomatosis 60 0.025
527
MCK007 Muckle-Wells Syndrome 62 0.025
528
MCK005 Mckusick-Kaufman Syndrome 53 0.025
529
c GLY016 Glycogen Storage Disease Ib 35 0.025
530
WDH003 Woodhouse-Sakati Syndrome 32 0.025
531
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.025
532
STT007 Steatocystoma Multiplex 45 0.025
533
P PRM018 Primary Hypertrophic Osteoarthropathy 39 0.025
534
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 22 0.025
535
c CRD187 Cardiomyopathy, Dilated, 3b 40 0.025
536
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25 0.025
537
ADR026 Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 36 0.025
538
c GLY043 Glycogen Storage Disease Xii 22 0.025
539
HYP610 Hypothyroidism, Central, and Testicular Enlargement 20 0.025
540
c SCH059 Schizophrenia 17 25 0.025
541
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 20 0.025
542
BLR001 Biliary Atresia 52 0.025
543
PRG023 Progeroid Short Stature with Pigmented Nevi 17 0.025
544
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 17 0.025
545
FRL002 Froelich Syndrome 14 0.025
546
c GLY017 Glycogen Storage Disease Ic 20 0.025
547
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 20 0.025
548
PLY115 Polyendocrine-Polyneuropathy Syndrome 16 0.025
549
NRF007 Neurofibroma 53 0.025
550
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 20 0.025
551
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 15 0.025
552
c OVR107 Ovarian Dysgenesis 4 24 0.025
553
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 19 0.025
554
P ALC004 Alcohol Abuse 57 0.025
555
CRV069 Cervix Disease 31 0.025
556
PLX002 Plexiform Neurofibroma 42 0.025
557
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 21 0.025
558
c KLL008 Kallmann Syndrome 6 13 0.025
559
GRN022 Granulosa Cell Tumor of the Ovary 39 0.025
560
VSC009 Vascular Skin Disease 21 0.025
561
GMG001 Gemignani Syndrome 14 0.025
562
TSH001 Tsh Producing Pituitary Tumor 36 0.025
563
P TST026 Testicular Germ Cell Cancer 41 0.025
564
46X011 46, Xy Disorders of Sexual Development 15 0.025
565
MNR003 Mineral Metabolism Disease 39 0.025
566
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 13 0.025
567
SKT001 Sakati Syndrome 19 0.025
568
CMB021 Combined Pituitary Hormone Deficiency 36 0.025
569
SLT009 Solitary Bone Cyst 28 0.025
570
PRT026 Parotitis 42 0.025
571
ATY016 Atypical Werner Syndrome 26 0.025
572
46X004 46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 22 0.025
573
HRM002 Hermaphroditism 37 0.025
574
c PRG106 Progressive Muscular Dystrophy 40 0.025
575
MSC012 Muscular Dystrophy, Duchenne and Becker Type 21 0.025
576
P CTS012 Cutis Verticis Gyrata 19 0.025
577
CHL124 Childhood Ovarian Cancer 14 0.025
578
IDP070 Idiopathic Scoliosis 38 0.025
579
GST078 Gastrointestinal Allergy 41 0.025
580
P XLN007 X-Linked Disease 34 0.025