Search results for "delayed puberty"

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

548 hits were found for 'delayed puberty'

# Family MCID Name MIFTS Score
1
P PRC019 Precocious Puberty 51 0.584
2
P OBS005 Obesity 93 0.138
3
HYP080 Hypogonadism 54 0.131
4
GND003 Gonadal Disease 43 0.128
5
NRN002 Neuronitis 42 0.124
6
INS024 Insulin-Like Growth Factor I 74 0.123
7
P HYP086 Hypothyroidism 65 0.115
8
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.114
9
HYP064 Hypogonadotropism 38 0.110
10
GRW007 Growth Hormone Deficiency 48 0.108
11
CRB009 Cerebritis 38 0.108
12
RPR002 Reproductive System Disease 46 0.102
13
FML039 Female Reproductive System Disease 48 0.099
14
P EPL164 Epilepsy 66 0.098
15
P TRN020 Turner Syndrome 64 0.096
16
P THY032 Thyroiditis 54 0.086
17
ACR002 Acrocapitofemoral Dysplasia 36 0.084
18
PRS047 Prostatitis 56 0.081
19
BND014 Bone Development Disease 42 0.080
20
P PRD006 Prader-Willi Syndrome 63 0.079
21
ACD009 Acid-Labile Subunit, Deficiency of 48 0.079
22
KDS001 Kid Syndrome 53 0.078
23
P PLY011 Polycystic Ovary Syndrome 66 0.075
24
CHL071 Child Syndrome 58 0.073
25
P HYP265 Hypotonia 39 0.073
26
SXD001 Sex Differentiation Disease 40 0.072
27
P INT063 Intellectual Disability 53 0.072
28
P HRT032 Heart Disease 76 0.071
29
P KLL001 Kallmann Syndrome 60 0.070
30
P PNC044 Pancreatitis 60 0.070
31
NTR005 Nutritional Deficiency Disease 39 0.069
32
P HYD006 Hydrocephalus 67 0.069
33
ADN018 Adenoma 59 0.067
34
P LKM002 Leukemia 70 0.067
35
AMN001 Amenorrhea 51 0.067
36
P OVR049 Ovarian Disease 55 0.066
37
P HPT021 Hepatitis 70 0.065
38
P BRS047 Breast Cancer 100 0.065
39
P MCR010 Microcephaly 58 0.065
40
SXL003 Sexual Disorder 47 0.065
41
KLN001 Klinefelter's Syndrome 55 0.065
42
BRN071 Brain Injury 52 0.064
43
P THL005 Thalassemia 61 0.064
44
WLL001 Williams-Beuren Syndrome 61 0.064
45
END072 Endotheliitis 42 0.064
46
SLP010 Slipped Capital Femoral Epiphysis 35 0.063
47
MDS022 Mediastinitis 41 0.062
48
VGN023 Vaginitis 42 0.062
49
c CNG006 Congenital Hypothyroidism 59 0.062
50
P GND004 Gonadal Dysgenesis 53 0.061
51
P MYP004 Myopathy 67 0.061
52
P INF032 Infertility 61 0.061
53
ARM001 Aromatase Deficiency 57 0.061
54
CRN036 Craniopharyngioma 52 0.060
55
P AST007 Astrocytoma 65 0.059
56
PSD009 Pseudohermaphroditism 40 0.059
57
BNS002 Bone Structure Disease 36 0.057
58
P PLY019 Polyneuropathy 54 0.057
59
P NRC002 Narcolepsy 62 0.056
60
ISL003 Isolated Growth Hormone Deficiency 44 0.056
61
ARC002 Arachnoiditis 38 0.056
62
P RCK004 Rickets 59 0.056
63
MLR007 Male Reproductive System Disease 37 0.056
64
CRD001 Cardiac Tamponade 44 0.055
65
P TRT010 Teratoma 52 0.054
66
FBR009 Fibrous Dysplasia 44 0.054
67
P UTR038 Uterine Disease 40 0.054
68
HND003 Hand-Foot-Uterus Syndrome 47 0.054
69
STR067 Stroke, Ischemic 77 0.054
70
DSS008 Disease of Mental Health 55 0.054
71
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.054
72
SMT008 Smith-Magenis Syndrome 51 0.054
73
P ATS007 Autism Spectrum Disorder 64 0.053
74
FLT006 Floating-Harbor Syndrome 41 0.053
75
ALR002 Al-Raqad Syndrome 36 0.053
76
PRP016 Paraplegia 49 0.053
77
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.053
78
ARC007 Arachnoid Cysts 38 0.053
79
P MSC005 Muscular Dystrophy 64 0.052
80
TRM010 Traumatic Brain Injury 52 0.052
81
P HYP040 Hypospadias 57 0.052
82
ACR012 Aicardi Syndrome 45 0.052
83
PLM001 Pulmonary Tuberculosis 68 0.051
84
URT001 Urethritis 40 0.051
85
P SPS003 Spastic Diplegia 53 0.051
86
SPC003 Specific Developmental Disorder 40 0.051
87
c NRF018 Neurofibromatosis, Type 1 68 0.050
88
HYP020 Hyperprolactinemia 57 0.050
89
PHN003 Phenylketonuria 73 0.050
90
c HMP004 Hemophilia B 62 0.050
91
CRY002 Cryptorchidism 62 0.050
92
ULN003 Ulnar-Mammary Syndrome 45 0.050
93
P GLM045 Glioma 58 0.050
94
c PST041 Posterior Urethral Valves 46 0.049
95
MLR004 Malaria 79 0.049
96
P ART022 Arthritis 75 0.048
97
P MSC033 Muscle Disorders 52 0.048
98
PLC008 Placenta Disease 36 0.048
99
P CMR001 Camurati-Engelmann Disease 59 0.048
100
P HMP007 Hemophilia 56 0.048
101
LRN004 Laron Dwarfism 59 0.048
102
P HST010 Histiocytosis 55 0.048
103
PTT009 Pituitary Gland Disease 48 0.048
104
PNL021 Pineal Cyst 17 0.048
105
PCK002 Pick Disease 67 0.047
106
P ANG001 Angelman Syndrome 61 0.047
107
P VSC005 Vesicoureteral Reflux 54 0.047
108
EST007 Estrogen Resistance 45 0.047
109
IMM107 Immunodeficiency 31c, Autosomal Dominant 27 0.047
110
P PRM019 Premature Ovarian Failure 64 0.046
111
LPD011 Lipoid Adrenal Hyperplasia 61 0.046
112
HPT023 Hepatocellular Carcinoma 91 0.046
113
P AST005 Asthma 82 0.046
114
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.046
115
c HPT016 Hepatitis B 64 0.046
116
AYM001 Ayme-Gripp Syndrome 45 0.046
117
c CRN214 Coronary Heart Disease 5 23 0.046
118
LRN003 Learning Disability 51 0.046
119
RHB003 Rhabdomyosarcoma 58 0.045
120
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 43 0.045
121
THL018 Thalassemia Major 42 0.045
122
NRM005 Neuromuscular Disease 57 0.045
123
BNF002 Bone Fracture 47 0.045
124
DWN001 Down Syndrome 65 0.045
125
P NRN021 Neuronal Ceroid Lipofuscinosis 58 0.045
126
PRV006 Pervasive Developmental Disorder 50 0.045
127
P STS008 Sotos Syndrome 1 47 0.045
128
BLP004 Blepharophimosis 39 0.045
129
P FRG001 Fragile X Syndrome 68 0.044
130
c GCH015 Gaucher Disease, Type I 66 0.044
131
INT075 Intracranial Hypertension 53 0.044
132
CHR008 Choroiditis 43 0.044
133
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.044
134
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 26 0.044
135
HPT022 Hepatoblastoma 53 0.043
136
LCH009 Lichen Sclerosus 42 0.043
137
TRP009 Triple X Syndrome 40 0.043
138
SMT004 Smith-Lemli-Opitz Syndrome 67 0.043
139
ACN011 Acne 63 0.043
140
ALL026 Allergic Hypersensitivity Disease 53 0.043
141
P NNT009 Neonatal Diabetes Mellitus 52 0.043
142
TMP012 Temple Syndrome 40 0.043
143
OLV004 Oliver-Mcfarlane Syndrome 31 0.043
144
DNC004 Diencephalic Syndrome 28 0.043
145
P ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 22 0.043
146
PRT036 Peritonitis 62 0.043
147
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 41 0.043
148
P OVR042 Ovarian Cancer 75 0.042
149
PNC034 Pancreas Disease 57 0.042
150
c PNC106 Pancreatic Agenesis 1 40 0.042
151
c SYS001 Systemic Lupus Erythematosus 87 0.042
152
FBR012 Fabry Disease 69 0.042
153
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.042
154
WLL006 Wells Syndrome 56 0.042
155
P SLV001 Silver-Russell Syndrome 54 0.042
156
VND001 Vein Disease 52 0.042
157
GNR004 Generalized Anxiety Disorder 51 0.042
158
GDS001 Good Syndrome 45 0.042
159
P LPR003 Leprosy 68 0.041
160
CRT015 Carotid Artery Occlusion 43 0.041
161
P PSR002 Psoriasis 63 0.041
162
LPM004 Lipoma 58 0.041
163
P HYP613 Hypophosphatemic Rickets 51 0.041
164
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.041
165
ACR041 Acromelic Frontonasal Dysostosis 46 0.041
166
TST015 Testicular Disease 45 0.041
167
BRT030 Birth Defects 43 0.041
168
HMH002 Hemihypertrophy 39 0.041
169
AND005 Androgen Insensitivity Syndrome, Mild 16 0.041
170
DCH001 Duchenne Muscular Dystrophy 80 0.041
171
P ATX030 Ataxia-Telangiectasia 76 0.041
172
HTC002 Hutchinson-Gilford Progeria 62 0.041
173
P LYM026 Lymphoblastic Leukemia 60 0.041
174
P HMR003 Hemorrhagic Disease 57 0.041
175
P PTS002 Ptosis 56 0.041
176
P DBT005 Diabetes Insipidus 53 0.041
177
P HYP024 Hypoparathyroidism 52 0.041
178
P NRV006 Nervous System Cancer 62 0.041
179
SYN005 Synostosis 45 0.041
180
P RHM011 Rheumatoid Arthritis 88 0.039
181
CYS001 Cystic Fibrosis 86 0.039
182
SBS003 Substance Abuse 56 0.039
183
CYS010 Cystinosis 51 0.039
184
CSY001 C Syndrome 49 0.039
185
HPR003 Heparin-Induced Thrombocytopenia 46 0.039
186
SPS057 Spasticity 42 0.039
187
MSC004 Muscle Tissue Disease 36 0.039
188
P ALX003 Alexander Disease 64 0.039
189
P MCP010 Mucopolysaccharidosis 58 0.039
190
P PLY006 Polydactyly 55 0.039
191
CHR074 Choriocarcinoma 46 0.039
192
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 34 0.039
193
RVL002 Ruvalcaba Syndrome 31 0.039
194
TBR024 Tuberous Sclerosis-1 65 0.038
195
P PLC011 Pilocytic Astrocytoma 58 0.038
196
EMB004 Embryonal Carcinoma 56 0.038
197
RBS003 Rabson-Mendenhall Syndrome 55 0.038
198
MYL020 Myelomeningocele 50 0.038
199
ADR008 Adrenal Adenoma 46 0.038
200
ADR026 Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 41 0.038
201
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 34 0.038
202
MXD032 Mixed Germ Cell Tumor 31 0.038
203
FBR026 Fibromatosis Multiple Non Ossifying 16 0.038
204
P LPS004 Lupus Erythematosus 63 0.038
205
P CRN139 Cornelia De Lange Syndrome 1 60 0.038
206
P CMP008 Compartment Syndrome 48 0.038
207
WLF002 Wolf-Hirschhorn Syndrome 45 0.038
208
ADJ001 Adjustment Disorder 38 0.038
209
CHR103 Charge Syndrome 64 0.038
210
VNW001 Von Willebrand's Disease 61 0.038
211
GNG013 Gingivitis 60 0.038
212
P SNS014 Sinusitis 60 0.038
213
ALS001 Alstrom Syndrome 52 0.038
214
MRC001 Marchiafava Bignami Disease 50 0.038
215
SKL014 Skeletal Dysplasia 46 0.038
216
P AFB001 Afibrinogenemia 46 0.038
217
ANV001 Anovulation 45 0.038
218
SKL017 Skeletal Dysplasias 45 0.038
219
c LTN016 Late-Infantile Neuronal Ceroid Lipofuscinosis 44 0.038
220
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.038
221
MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 33 0.038
222
48X003 48,xxyy Syndrome 25 0.038
223
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 18 0.038
224
P SCH015 Schizophrenia 76 0.037
225
P PLM036 Pulmonary Fibrosis 68 0.037
226
CNN005 Connective Tissue Disease 61 0.037
227
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.037
228
PLM010 Pulmonary Edema 56 0.037
229
P MSC003 Muscular Atrophy 51 0.037
230
FML037 Female Breast Cancer 51 0.037
231
P CHL066 Cholangitis 49 0.037
232
SCK005 Sickle Cell Disease 49 0.037
233
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.037
234
P CRN178 Coronary Heart Disease 6 24 0.037
235
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 24 0.037
236
c CRN175 Coronary Heart Disease 4 21 0.037
237
SCK003 Sickle Cell Anemia 68 0.036
238
P CLC005 Celiac Disease 67 0.036
239
P AGM001 Agammaglobulinemia 64 0.036
240
MDD011 Mood Disorder 61 0.036
241
PLM033 Pulmonary Embolism 59 0.036
242
P SCL018 Scoliosis 56 0.036
243
PLS007 Plasmodium Falciparum Malaria 54 0.036
244
CYS036 Cystinosis, Nephropathic 41 0.036
245
MDY003 Mody, Type Ii 38 0.036
246
PTC001 Potocki-Shaffer Syndrome 36 0.036
247
WRN001 Werner Syndrome 67 0.035
248
c HMP029 Hemophilia a 64 0.035
249
P CSH001 Cushing's Syndrome 64 0.035
250
P FRD001 Friedreich Ataxia 62 0.035
251
P TXP001 Toxoplasmosis 60 0.035
252
c LCL006 Localized Scleroderma 59 0.035
253
c MCP004 Mucopolysaccharidosis Iv 59 0.035
254
c GLY060 Glycogen Storage Disease Ia 58 0.035
255
P PRP029 Porphyria 58 0.035
256
P HYP069 Hyperparathyroidism 57 0.035
257
P ECL001 Eclampsia 54 0.035
258
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 53 0.035
259
P END044 Endometriosis 53 0.035
260
ASP001 Asperger Syndrome 49 0.035
261
c CNG021 Congenital Toxoplasmosis 46 0.035
262
HYP691 Hypomelanosis of Ito 42 0.035
263
c INF069 Infantile Neuroaxonal Dystrophy 1 42 0.035
264
OLG001 Oligospermia 39 0.035
265
3BT003 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 33 0.035
266
OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 24 0.035
267
19P001 19p13.12 Microdeletion Syndrome 13 0.035
268
FNC050 Functioning Gonadotropic Adenoma 11 0.035
269
P MYL006 Myeloid Leukemia 67 0.035
270
LWS003 Lowe Syndrome 61 0.035
271
P DRR001 Diarrhea 51 0.035
272
CLF001 Cleft Lip 49 0.035
273
GLT021 Glutaricaciduria, Type I 48 0.035
274
c HMG001 Hemoglobin C Disease 47 0.035
275
PRP007 Priapism 47 0.035
276
GLC008 Glucose Metabolism Disease 47 0.035
277
BNC003 Bone Cancer 45 0.035
278
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 33 0.035
279
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.035
280
HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 11 0.035
281
P ALG002 Alagille Syndrome 72 0.033
282
P NRV007 Nervous System Disease 71 0.033
283
P DMN001 Diamond-Blackfan Anemia 68 0.033
284
SKN016 Skin Disease 68 0.033
285
CRD119 Cardiac Arrest 63 0.033
286
P ADD001 Addison's Disease 62 0.033
287
P ADL010 Adult Respiratory Distress Syndrome 60 0.033
288
P PRT013 Portal Hypertension 59 0.033
289
RHM027 Rheumatic Disease 57 0.033
290
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.033
291
P HMR012 Hemorrhagic Fever 55 0.033
292
INT007 Intermediate Coronary Syndrome 52 0.033
293
END035 Endocrine Gland Cancer 52 0.033
294
OPT009 Optic Neuritis 48 0.033
295
HYD002 Hydronephrosis 47 0.033
296
LKC003 Leukocyte Disease 47 0.033
297
BLD053 Blood Platelet Disease 46 0.033
298
c GCH017 Gaucher Disease, Type Iii 45 0.033
299
WTH001 Withdrawal Disorder 41 0.033
300
P OCY001 Oocyte Maturation Defect 39 0.033
301
GRW023 Growth Hormone Deficiency, Isolated Partial 25 0.033
302
P RTT002 Rett Syndrome 78 0.033
303
P TYS001 Tay-Sachs Disease 71 0.033
304
P MSC007 Muscle Hypertrophy 59 0.033
305
c THR092 Thrombophilia Due to Thrombin Defect 56 0.033
306
NRN004 Neuroendocrine Tumor 54 0.033
307
OVR063 Overnutrition 49 0.033
308
P KBK002 Kabuki Syndrome 1 49 0.033
309
P BLD051 Blood Coagulation Disease 45 0.033
310
CRR007 Cirrhosis, Cryptogenic 44 0.033
311
FRS002 Frasier Syndrome 42 0.033
312
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 37 0.033
313
VGN019 Vaginal Discharge 33 0.033
314
PHS005 Peho Syndrome 32 0.033
315
LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 31 0.033
316
LYM043 Lymphocytic Hypophysitis 31 0.033
317
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 18 0.033
318
ANX002 Anxiety Disorder 69 0.032
319
P OST002 Osteoporosis 64 0.032
320
EWN003 Ewing Sarcoma 64 0.032
321
LSH001 Leishmaniasis 62 0.032
322
c VRL010 Viral Hepatitis 61 0.032
323
LPR018 Leprechaunism 59 0.032
324
P UVT001 Uveitis 59 0.032
325
c HPT003 Hepatitis a 59 0.032
326
PRC002 Paracoccidioidomycosis 55 0.032
327
P MLT074 Multiple Endocrine Neoplasia 55 0.032
328
SCR008 Scrub Typhus 54 0.032
329
VSC006 Vascular Cancer 54 0.032
330
TST014 Testicular Cancer 52 0.032
331
LPR001 Lepromatous Leprosy 49 0.032
332
CYT005 Cytomegalovirus Retinitis 49 0.032
333
ACT049 Acute Disseminated Encephalomyelitis 49 0.032
334
ACT017 Acute Chest Syndrome 48 0.032
335
JCB001 Jacobsen Syndrome 48 0.032
336
SKN027 Skin Conditions 45 0.032
337
EXT022 Exotropia 39 0.032
338
c EPD044 Epidermolysis Bullosa Dystrophica, Ar 36 0.032
339
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 27 0.032
340
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 22 0.032
341
NRC007 Neuroectodermal Endocrine Syndrome 22 0.032
342
c CRN173 Coronary Heart Disease 8 20 0.032
343
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.032
344
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.030
345
KWS002 Kawasaki Disease 70 0.030
346
P MYS003 Myasthenia Gravis 65 0.030
347
NRR002 Norrie Disease 61 0.030
348
P WLF004 Wolfram Syndrome 61 0.030
349
LPD008 Lipid Metabolism Disorder 58 0.030
350
P RBL001 Rubella 56 0.030
351
SPT005 Spotted Fever 56 0.030
352
MLN007 Male Infertility 56 0.030
353
CHN016 Cohen Syndrome 55 0.030
354
PPL022 Papilloma 55 0.030
355
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.030
356
c HPT007 Hepatitis E 54 0.030
357
PTT046 Pituitary Hormone Deficiency, Combined, 2 53 0.030
358
ECH003 Echinococcosis 53 0.030
359
PLS006 Plasmodium Vivax Malaria 53 0.030
360
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.030
361
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.030
362
P END033 Endocarditis 52 0.030
363
ARS001 Aarskog-Scott Syndrome 52 0.030
364
HMR002 Hemarthrosis 48 0.030
365
PPL021 Papilledema 48 0.030
366
WHP001 Whipple Disease 48 0.030
367
PLC007 Placental Abruption 47 0.030
368
MLT006 Multidrug-Resistant Tuberculosis 46 0.030
369
CLF004 Cleft Lip/palate 46 0.030
370
P DYS026 Dysfibrinogenemia 41 0.030
371
SYM002 Sympathetic Ophthalmia 40 0.030
372
PTT041 Pituitary Stalk Interruption Syndrome 39 0.030
373
ART006 Arthus Reaction 38 0.030
374
FCL011 Facial Nerve Disease 38 0.030
375
SPN185 Spinal Cord Infarction 36 0.030
376
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 0.030
377
GNC005 Geniculate Ganglionitis 31 0.030
378
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 29 0.030
379
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 24 0.030
380
GRW026 Growth Hormone Insensitivity, Partial 23 0.030
381
HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20 0.030
382
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 13 0.030
383
8PN001 8p Inverted Duplication/deletion Syndrome 12 0.030
384
WLS001 Wilson Disease 72 0.028
385
c MLT136 Multiple Endocrine Neoplasia 1 68 0.028
386
BCK001 Becker Muscular Dystrophy 68 0.028
387
GLC006 Galactosemia 67 0.028
388
LPP001 Lipoprotein Lipase Deficiency 65 0.028
389
DNG002 Dengue Hemorrhagic Fever 62 0.028
390
CRB011 Cerebrotendinous Xanthomatosis 60 0.028
391
c ATM010 Autoimmune Hemolytic Anemia 60 0.028
392
VRL011 Viral Infectious Disease 59 0.028
393
PRP030 Purpura 59 0.028
394
c ATM011 Autoimmune Hepatitis 58 0.028
395
HMR004 Hemorrhagic Fever with Renal Syndrome 57 0.028
396
P EXN002 Exanthem 57 0.028
397
P GRS014 Griscelli Syndrome, Type 2 55 0.028
398
CHR029 Choroid Plexus Papilloma 55 0.028
399
MNT002 Mental Depression 54 0.028
400
CRM001 Crimean-Congo Hemorrhagic Fever 54 0.028
401
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.028
402
TWN003 Townes-Brocks Syndrome 53 0.028
403
THR016 Thrombophlebitis 52 0.028
404
GNG012 Gingival Overgrowth 52 0.028
405
ALV002 Alveolar Echinococcosis 51 0.028
406
BLR001 Biliary Atresia 51 0.028
407
FNC009 Fanconi-Bickel Syndrome 51 0.028
408
MYC002 Mycobacterium Avium Complex Disease 51 0.028
409
OPT003 Opiate Dependence 50 0.028
410
INF034 Infective Endocarditis 50 0.028
411
RHM001 Rheumatic Fever 50 0.028
412
CHR001 Churg-Strauss Syndrome 49 0.028
413
P PNV001 Panuveitis 49 0.028
414
PRT018 Portal Vein Thrombosis 49 0.028
415
P OST028 Osteochondroma 48 0.028
416
BLR008 Bilirubin Metabolic Disorder 47 0.028
417
46X003 46,xx Testicular Disorder of Sex Development 47 0.028
418
P PRD008 Periodontitis 46 0.028
419
c TRC092 Trichorhinophalangeal Syndrome, Type I 45 0.028
420
IDP024 Idiopathic Inflammatory Myopathy 45 0.028
421
MLK006 Milk Allergy 44 0.028
422
CRV043 Cervical Dystonia 44 0.028
423
P RTN014 Retinal Artery Occlusion 43 0.028
424
RCR004 Recurrent Respiratory Papillomatosis 40 0.028
425
P HYP263 Hypersomnia 40 0.028
426
FXF002 Fox-Fordyce Disease 39 0.028
427
MYX004 Myxedema 38 0.028
428
OST115 Osteonecrosis of the Jaw 37 0.028
429
VRT001 Vertebral Artery Occlusion 37 0.028
430
ANR018 Anorchia 36 0.028
431
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 35 0.028
432
46X012 46,xy Partial Gonadal Dysgenesis 34 0.028
433
ORC001 Orchitis 34 0.028
434
P LPR012 Leopard Syndrome 1 30 0.028
435
WLS004 Wilson-Turner Syndrome 30 0.028
436
RFM001 Roifman Syndrome 26 0.028
437
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.028
438
HYP308 Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 24 0.028
439
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 19 0.028
440
c SNG011 Singleton-Merten Syndrome 1 18 0.028
441
c PLT022 Pili Torti, Early-Onset 18 0.028
442
49X001 49, Xxxxx 17 0.028
443
CHR362 Chromosome 17q21.31 Duplication Syndrome 17 0.028
444
PTT016 Patterson Pseudoleprechaunism Syndrome 15 0.028
445
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 15 0.028
446
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 0.028
447
DFN313 Deafness-Hypogonadism Syndrome 13 0.028
448
INH016 Inherited Isolated Adrenal Insufficiency Due to Cyp11a1 Deficiency 11 0.028
449
HRN021 Hernández-Aguirre Negrete Syndrome 10 0.028
450
FCT007 Factor Vii Deficiency 62 0.025
451
MCK007 Muckle-Wells Syndrome 61 0.025
452
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 61 0.025
453
GTL001 Gitelman Syndrome 60 0.025
454
OVR029 Ovarian Hyperstimulation Syndrome 60 0.025
455
P ALC004 Alcohol Abuse 60 0.025
456
ALC006 Alcoholic Hepatitis 59 0.025
457
P ANT006 Antiphospholipid Syndrome 58 0.025
458
SCH014 Schistosomiasis 58 0.025
459
PLY023 Polycystic Liver Disease 57 0.025
460
GLL022 Guillain-Barre Syndrome 56 0.025
461
FDL002 Food Allergy 54 0.025
462
PRT014 Protein S Deficiency 52 0.025
463
c PSD067 Pseudohypoparathyroidism Ia 52 0.025
464
MCK005 Mckusick-Kaufman Syndrome 52 0.025
465
NRF007 Neurofibroma 52 0.025
466
PRT011 Protein C Deficiency 51 0.025
467
RHM028 Rheumatic Heart Disease 51 0.025
468
PTT048 Pituitary Adenoma, Prolactin-Secreting 50 0.025
469
CYS008 Cystic Echinococcosis 50 0.025
470
c 46X001 46 Xy Gonadal Dysgenesis 48 0.025
471
MCR088 Microscopic Polyangiitis 48 0.025
472
TRC008 Trachoma 48 0.025
473
SLD003 Sialadenitis 48 0.025
474
MCR191 Microscopic Colitis 47 0.025
475
MCC002 Mucocutaneous Leishmaniasis 46 0.025
476
c ATM024 Autoimmune Pancreatitis 46 0.025
477
c SVR056 Severe Hemophilia a 46 0.025
478
P ACT150 Acute Adrenal Insufficiency 45 0.025
479
IDP064 Idiopathic Neutropenia 45 0.025
480
CLN003 Clonorchiasis 44 0.025
481
PNT038 Peanut Allergy 44 0.025
482
GGR001 Geographic Tongue 44 0.025
483
DSC009 Discoid Lupus Erythematosus 44 0.025
484
RHM014 Rheumatoid Vasculitis 43 0.025
485
PLX002 Plexiform Neurofibroma 42 0.025
486
PRT026 Parotitis 42 0.025
487
FCT005 Factor Xiii Deficiency 42 0.025
488
STT007 Steatocystoma Multiplex 42 0.025
489
GST078 Gastrointestinal Allergy 41 0.025
490
PTY001 Pityriasis Rosea 41 0.025
491
c CHR576 Chronic Beryllium Disease 41 0.025
492
NNT049 Nontuberculous Mycobacterial Lung Disease 41 0.025
493
CTS005 Catastrophic Antiphospholipid Syndrome 41 0.025
494
P TST026 Testicular Germ Cell Cancer 41 0.025
495
c PRG106 Progressive Muscular Dystrophy 41 0.025
496
ANC002 Anca-Associated Vasculitis 41 0.025
497
MNR003 Mineral Metabolism Disease 41 0.025
498
WDH003 Woodhouse-Sakati Syndrome 41 0.025
499
NPH004 Nephropathia Epidemica 40 0.025
500
IDP070 Idiopathic Scoliosis 40 0.025
501
HRM002 Hermaphroditism 38 0.025
502
P BRY005 Beryllium Disease 38 0.025
503
LCH011 Lichen Planopilaris 37 0.025
504
IDP074 Idiopathic Bronchiectasis 37 0.025
505
CMB021 Combined Pituitary Hormone Deficiency 36 0.025
506
TNG001 Tungiasis 36 0.025
507
PDC001 Podoconiosis 36 0.025
508
c GLY016 Glycogen Storage Disease Ib 36 0.025
509
TSH001 Tsh Producing Pituitary Tumor 36 0.025
510
BLT003 Blue Toe Syndrome 35 0.025
511
P XLN007 X-Linked Disease 34 0.025
512
SLT009 Solitary Bone Cyst 34 0.025
513
CRV069 Cervix Disease 34 0.025
514
c CRD187 Cardiomyopathy, Dilated, 3b 34 0.025
515
MTL005 Metal Allergy 34 0.025
516
FRN014 Fournier Gangrene 34 0.025
517
c TYP024 Type Ii Mixed Cryoglobulinemia 34 0.025
518
ART110 Arteritic Anterior Ischemic Optic Neuropathy 32 0.025
519
P ATX010 Ataxia Neuropathy Spectrum 28 0.025
520
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.025
521
c SCH059 Schizophrenia 17 26 0.025
522
ATY016 Atypical Werner Syndrome 26 0.025
523
c OVR107 Ovarian Dysgenesis 4 25 0.025
524
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 24 0.025
525
46X004 46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 24 0.025
526
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 23 0.025
527
VSC009 Vascular Skin Disease 22 0.025
528
MSC012 Muscular Dystrophy, Duchenne and Becker Type 22 0.025
529
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 22 0.025
530
c GLY017 Glycogen Storage Disease Ic 21 0.025
531
CNG101 Congenital Human Immunodeficiency Virus 21 0.025
532
c GLY043 Glycogen Storage Disease Xii 21 0.025
533
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 21 0.025
534
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 20 0.025
535
HYP610 Hypothyroidism, Central, and Testicular Enlargement 20 0.025
536
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 20 0.025
537
SKT001 Sakati Syndrome 20 0.025
538
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 18 0.025
539
ATR076 Atrophic Muscular Disease 18 0.025
540
PRG023 Progeroid Short Stature with Pigmented Nevi 18 0.025
541
FRL002 Froelich Syndrome 17 0.025
542
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.025
543
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 16 0.025
544
GMG001 Gemignani Syndrome 15 0.025
545
c KLL008 Kallmann Syndrome 6 15 0.025
546
PLY115 Polyendocrine-Polyneuropathy Syndrome 14 0.025
547
46X011 46, Xy Disorders of Sexual Development 13 0.025
548
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12 0.025