Search results for delayed puberty

495 hits were found for delayed puberty

# Family MCID Name MIFTS Score
1
P PRC019 Precocious Puberty 50 0.629
2
P OBS005 Obesity 91 0.150
3
GND003 Gonadal Disease 40 0.137
4
HYP080 Hypogonadism 52 0.136
5
INS024 Insulin-Like Growth Factor I 75 0.132
6
NRN002 Neuronitis 39 0.126
7
RPR002 Reproductive System Disease 43 0.125
8
c PRC047 Precocious Puberty, Central, 1 25 0.123
9
P HYP086 Hypothyroidism 60 0.121
10
CRB009 Cerebritis 39 0.117
11
HYP730 Hypogonadotropic Hypogonadism 52 0.115
12
HYP064 Hypogonadotropism 35 0.115
13
GRW007 Growth Hormone Deficiency 48 0.114
14
c PRC046 Precocious Puberty, Central, 2 25 0.113
15
P TRN020 Turner Syndrome 65 0.109
16
CNG368 Congenital Adrenal Hyperplasia 63 0.101
17
P EPL164 Epilepsy 65 0.100
18
FML039 Female Reproductive System Disease 46 0.090
19
BNS002 Bone Structure Disease 36 0.089
20
P THY032 Thyroiditis 53 0.087
21
KDS001 Kid Syndrome 57 0.084
22
P PRD006 Prader-Willi Syndrome 65 0.083
23
P PLY011 Polycystic Ovary Syndrome 63 0.081
24
PRS047 Prostatitis 55 0.081
25
CHL071 Child Syndrome 59 0.080
26
P KLL001 Kallmann Syndrome 62 0.079
27
ADN018 Adenoma 58 0.079
28
P INT063 Intellectual Disability 58 0.077
29
P MCR010 Microcephaly 58 0.077
30
P HYP265 Hypotonia 39 0.074
31
CRN036 Craniopharyngioma 59 0.074
32
ARM001 Aromatase Deficiency 57 0.073
33
ULN003 Ulnar-Mammary Syndrome 47 0.072
34
P BRS047 Breast Cancer 100 0.072
35
AND015 Androgen Insensitivity 63 0.070
36
P PNC044 Pancreatitis 60 0.070
37
P HYD006 Hydrocephalus 66 0.069
38
BND014 Bone Development Disease 39 0.069
39
AMN001 Amenorrhea 49 0.069
40
ACR012 Aicardi Syndrome 49 0.068
41
MDS022 Mediastinitis 40 0.068
42
P LKM002 Leukemia 72 0.068
43
WLL001 Williams-Beuren Syndrome 62 0.066
44
P THL005 Thalassemia 61 0.066
45
VGN023 Vaginitis 41 0.064
46
P INF032 Infertility 57 0.064
47
SLP010 Slipped Capital Femoral Epiphysis 33 0.064
48
c CNG006 Congenital Hypothyroidism 60 0.064
49
SMT008 Smith-Magenis Syndrome 55 0.064
50
BRT030 Birth Defects 44 0.063
51
BRN071 Brain Injury 50 0.063
52
END072 Endotheliitis 41 0.062
53
FBR012 Fabry Disease 71 0.062
54
P NRF018 Neurofibromatosis, Type 1 78 0.062
55
P HRT032 Heart Disease 75 0.062
56
P MYP004 Myopathy 68 0.062
57
P GRM010 Germ Cells Tumors 34 0.061
58
P CMR001 Camurati-Engelmann Disease 59 0.061
59
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 44 0.061
60
IMM107 Immunodeficiency 31c, Autosomal Dominant 29 0.061
61
PSD009 Pseudohermaphroditism 39 0.061
62
P AST007 Astrocytoma 63 0.060
63
LRN004 Laron Dwarfism 59 0.058
64
CYS036 Cystinosis, Nephropathic 42 0.058
65
MLR007 Male Reproductive System Disease 36 0.057
66
ISL003 Isolated Growth Hormone Deficiency 52 0.057
67
ARC002 Arachnoiditis 41 0.057
68
P ATS007 Autism Spectrum Disorder 65 0.057
69
P HPT021 Hepatitis 68 0.056
70
P ATX030 Ataxia-Telangiectasia 78 0.056
71
ACD009 Acid-Labile Subunit, Deficiency of 37 0.056
72
P PLY019 Polyneuropathy 54 0.056
73
FLT006 Floating-Harbor Syndrome 44 0.056
74
P TRT010 Teratoma 51 0.056
75
FBR009 Fibrous Dysplasia 44 0.056
76
P OVR076 Ovarian Dysgenesis 2 33 0.056
77
P RCK004 Rickets 57 0.055
78
RVL002 Ruvalcaba Syndrome 34 0.055
79
ALR002 Al-Raqad Syndrome 29 0.055
80
P OVR049 Ovarian Disease 54 0.054
81
ARC007 Arachnoid Cysts 38 0.054
82
HTC002 Hutchinson-Gilford Progeria 63 0.054
83
THL018 Thalassemia Major 52 0.054
84
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.053
85
NLL002 Null Syndrome 26 0.053
86
P KDN018 Kidney Disease 65 0.053
87
P HYP040 Hypospadias 58 0.053
88
CHL067 Cholecystitis 55 0.053
89
P SPS003 Spastic Diplegia 52 0.052
90
EST007 Estrogen Resistance 47 0.052
91
HYP020 Hyperprolactinemia 59 0.052
92
ADR049 Adrenal Hypoplasia, Congenital 46 0.052
93
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 35 0.052
94
CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 32 0.052
95
PRP016 Paraplegia 48 0.052
96
AND005 Androgen Insensitivity Syndrome, Mild 16 0.051
97
PHN003 Phenylketonuria 72 0.051
98
P NRC002 Narcolepsy 62 0.051
99
CRY002 Cryptorchidism 61 0.051
100
TMP012 Temple Syndrome 43 0.051
101
P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 22 0.051
102
FNC050 Functioning Gonadotropic Adenoma 14 0.051
103
P MSC005 Muscular Dystrophy 65 0.051
104
TRM010 Traumatic Brain Injury 51 0.051
105
P HYP729 Hypersensitivity Reaction Disease 43 0.051
106
URT001 Urethritis 40 0.051
107
P ART022 Arthritis 72 0.051
108
P MSC033 Muscle Disorders 52 0.050
109
CHN016 Cohen Syndrome 54 0.050
110
CRB037 Cerebral Palsy 54 0.050
111
DSS008 Disease of Mental Health 53 0.050
112
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.050
113
P GLM045 Glioma 59 0.050
114
CYS010 Cystinosis 53 0.050
115
MSC004 Muscle Tissue Disease 37 0.049
116
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21 0.049
117
P HST010 Histiocytosis 54 0.049
118
P GND004 Gonadal Dysgenesis 51 0.049
119
PTT009 Pituitary Gland Disease 46 0.049
120
HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 33 0.049
121
PNL021 Pineal Cyst 15 0.049
122
P ANG001 Angelman Syndrome 62 0.049
123
P STS008 Sotos Syndrome 1 54 0.049
124
c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 35 0.049
125
P AST005 Asthma 81 0.048
126
P VSC005 Vesicoureteral Reflux 52 0.048
127
WLF002 Wolf-Hirschhorn Syndrome 50 0.048
128
c PST041 Posterior Urethral Valves 46 0.048
129
RBS003 Rabson-Mendenhall Syndrome 57 0.047
130
P CRP007 Carpenter Syndrome 55 0.047
131
c TBR024 Tuberous Sclerosis-1 55 0.047
132
TRP009 Triple X Syndrome 44 0.047
133
OLV004 Oliver-Mcfarlane Syndrome 31 0.047
134
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 33 0.047
135
HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15 0.047
136
P HPT023 Hepatocellular Carcinoma 89 0.046
137
MDY003 Mody, Type Ii 40 0.046
138
PTC001 Potocki-Shaffer Syndrome 38 0.046
139
BLP004 Blepharophimosis 36 0.046
140
GRW023 Growth Hormone Deficiency, Isolated Partial 28 0.046
141
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 23 0.046
142
SMT004 Smith-Lemli-Opitz Syndrome 69 0.046
143
c HMP004 Hemophilia B 62 0.046
144
RHB003 Rhabdomyosarcoma 58 0.046
145
c TRC092 Trichorhinophalangeal Syndrome, Type I 48 0.046
146
c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33 0.046
147
PCK002 Pick Disease 68 0.045
148
ADL002 Adult Syndrome 57 0.045
149
NRM005 Neuromuscular Disease 55 0.045
150
BNF002 Bone Fracture 51 0.045
151
P CLC005 Celiac Disease 69 0.045
152
P NRN021 Neuronal Ceroid Lipofuscinosis 61 0.045
153
P SCL018 Scoliosis 56 0.045
154
P SLV001 Silver-Russell Syndrome 56 0.045
155
PRV006 Pervasive Developmental Disorder 50 0.045
156
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 26 0.045
157
HPT022 Hepatoblastoma 54 0.045
158
HYP277 Hypothalamic Hamartomas, Somatic 27 0.045
159
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.044
160
ACN011 Acne 59 0.044
161
c GLY060 Glycogen Storage Disease Ia 55 0.044
162
P HYP613 Hypophosphatemic Rickets 55 0.044
163
P NNT009 Neonatal Diabetes Mellitus 51 0.044
164
DNC004 Diencephalic Syndrome 34 0.044
165
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 28 0.044
166
HYP610 Hypothyroidism, Central, and Testicular Enlargement 20 0.044
167
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 18 0.044
168
DWN001 Down Syndrome 69 0.044
169
P FRG001 Fragile X Syndrome 67 0.044
170
P CRN015 Cornelia De Lange Syndrome 64 0.044
171
P LYM026 Lymphoblastic Leukemia 60 0.044
172
LWS003 Lowe Syndrome 59 0.044
173
c GCH017 Gaucher Disease, Type Iii 47 0.044
174
PTT041 Pituitary Stalk Interruption Syndrome 44 0.044
175
SPC003 Specific Developmental Disorder 38 0.044
176
c MNT109 Mental Retardation, X-Linked, Syndromic 15 36 0.044
177
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 32 0.044
178
MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 21 0.044
179
CYS001 Cystic Fibrosis 86 0.044
180
PNC034 Pancreas Disease 55 0.044
181
PHY002 Physical Disorder 43 0.043
182
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 55 0.043
183
P HMP007 Hemophilia 55 0.043
184
c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32 0.043
185
P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 19 0.043
186
19P001 19p13.12 Microdeletion Syndrome 17 0.043
187
P PSR002 Psoriasis 64 0.042
188
LPD011 Lipoid Adrenal Hyperplasia 46 0.042
189
HMH002 Hemihypertrophy 40 0.042
190
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.042
191
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 23 0.042
192
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 53 0.042
193
DCH001 Duchenne Muscular Dystrophy 79 0.041
194
P DMN001 Diamond-Blackfan Anemia 70 0.041
195
ALX003 Alexander Disease 65 0.041
196
P ADD001 Addison's Disease 62 0.041
197
LPR018 Leprechaunism 60 0.041
198
ALS001 Alstrom Syndrome 55 0.041
199
c GCH015 Gaucher Disease, Type I 54 0.041
200
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.041
201
P HYP024 Hypoparathyroidism 52 0.041
202
P PTS002 Ptosis 52 0.041
203
MNT002 Mental Depression 52 0.041
204
P DBT005 Diabetes Insipidus 52 0.041
205
CRN246 Cranioosteoarthropathy 33 0.041
206
OBS020 Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 28 0.041
207
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 27 0.041
208
OBS011 Obesity with Impaired Prohormone Processing 26 0.041
209
GRW026 Growth Hormone Insensitivity, Partial 24 0.041
210
NRC007 Neuroectodermal Endocrine Syndrome 23 0.041
211
HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 22 0.041
212
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 17 0.041
213
8PN001 8p Inverted Duplication/deletion Syndrome 16 0.041
214
ITR002 Iatrogenic or Traumatic Pituitary Deficiency 12 0.041
215
SYN005 Synostosis 45 0.041
216
P NRV007 Nervous System Disease 70 0.040
217
SPS057 Spasticity 42 0.040
218
CHR103 Charge Syndrome 65 0.040
219
P GCH001 Gaucher's Disease 63 0.040
220
P WLF004 Wolfram Syndrome 63 0.040
221
P ALG028 Alagille Syndrome 1 63 0.040
222
NRR002 Norrie Disease 62 0.040
223
P PLY006 Polydactyly 54 0.040
224
ARS001 Aarskog-Scott Syndrome 54 0.040
225
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.040
226
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.040
227
c CNG021 Congenital Toxoplasmosis 52 0.040
228
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 49 0.040
229
46X029 46xx Sex Reversal 1 47 0.040
230
SKL014 Skeletal Dysplasia 46 0.040
231
CHR074 Choriocarcinoma 45 0.040
232
SKL017 Skeletal Dysplasias 44 0.040
233
HYP691 Hypomelanosis of Ito 44 0.040
234
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39 0.040
235
46X012 46,xy Partial Gonadal Dysgenesis 38 0.040
236
48X003 48,xxyy Syndrome 29 0.040
237
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 23 0.040
238
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 20 0.040
239
49X001 49, Xxxxx 20 0.040
240
CHR362 Chromosome 17q21.31 Duplication Syndrome 20 0.040
241
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 18 0.040
242
DFN313 Deafness-Hypogonadism Syndrome 17 0.040
243
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 17 0.040
244
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 16 0.040
245
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15 0.040
246
HRN021 Hernández-Aguirre Negrete Syndrome 11 0.040
247
P PLC011 Pilocytic Astrocytoma 57 0.040
248
MYL020 Myelomeningocele 50 0.040
249
ADR008 Adrenal Adenoma 45 0.040
250
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 38 0.040
251
MXD032 Mixed Germ Cell Tumor 32 0.040
252
ANX002 Anxiety Disorder 66 0.039
253
TTH006 Tooth Disease 51 0.039
254
P LPS004 Lupus Erythematosus 63 0.038
255
CSY001 C Syndrome 53 0.038
256
SCK005 Sickle Cell Disease 51 0.038
257
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 32 0.038
258
P CSH001 Cushing's Syndrome 65 0.038
259
P FRD001 Friedreich Ataxia 62 0.038
260
GNG013 Gingivitis 61 0.038
261
P SNS014 Sinusitis 59 0.038
262
P PRP029 Porphyria 59 0.038
263
WLL006 Wells Syndrome 58 0.038
264
PTT006 Pituitary Adenoma 56 0.038
265
P TWN003 Townes-Brocks Syndrome 54 0.038
266
ASP001 Asperger Syndrome 49 0.038
267
c HYP071 Hypersensitivity Reaction Type Ii Disease 48 0.038
268
GDS001 Good Syndrome 46 0.038
269
ANV001 Anovulation 44 0.038
270
P PHS005 Peho Syndrome 35 0.038
271
c LPR012 Leopard Syndrome 1 33 0.038
272
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24 0.038
273
HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22 0.038
274
HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 22 0.038
275
HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21 0.038
276
HYP721 Hypogonadotropic Hypogonadism 22, with or Without Anosmia 19 0.038
277
P SCH015 Schizophrenia 71 0.037
278
P MYL006 Myeloid Leukemia 64 0.037
279
c HPT016 Hepatitis B 62 0.037
280
VRL011 Viral Infectious Disease 59 0.037
281
LRN003 Learning Disability 46 0.037
282
HYP622 Hypertrichotic Osteochondrodysplasia 38 0.037
283
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 29 0.037
284
P TYS001 Tay-Sachs Disease 70 0.036
285
P MTC003 Metachromatic Leukodystrophy 70 0.036
286
WRN001 Werner Syndrome 68 0.036
287
P TBR001 Tuberous Sclerosis 67 0.036
288
MCK007 Muckle-Wells Syndrome 63 0.036
289
c MCP004 Mucopolysaccharidosis Iv 60 0.036
290
P TXP001 Toxoplasmosis 60 0.036
291
P HYP069 Hyperparathyroidism 56 0.036
292
P KBK002 Kabuki Syndrome 1 54 0.036
293
P HYP076 Hyperthyroidism 53 0.036
294
P END044 Endometriosis 53 0.036
295
PTT048 Pituitary Adenoma, Prolactin-Secreting 52 0.036
296
P ECL001 Eclampsia 51 0.036
297
P ACT150 Acute Adrenal Insufficiency 46 0.036
298
3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 43 0.036
299
TSH001 Tsh Producing Pituitary Tumor 39 0.036
300
c GLY016 Glycogen Storage Disease Ib 39 0.036
301
OLG001 Oligospermia 37 0.036
302
ATY016 Atypical Werner Syndrome 32 0.036
303
c CNG379 Congenital Disorder of Glycosylation, Type It 31 0.036
304
OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 29 0.036
305
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 26 0.036
306
c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25 0.036
307
c GLY043 Glycogen Storage Disease Xii 23 0.036
308
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22 0.036
309
HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 21 0.036
310
PRG023 Progeroid Short Stature with Pigmented Nevi 19 0.036
311
c PLT022 Pili Torti, Early-Onset 19 0.036
312
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 0.036
313
HYP566 Hypogonadotropic Hypogonadism 21 with Anosmia 18 0.036
314
P PRM091 Premature Ovarian Failure 2b 18 0.036
315
HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 18 0.036
316
HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 18 0.036
317
GMG001 Gemignani Syndrome 17 0.036
318
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 11 0.036
319
SCK003 Sickle Cell Anemia 71 0.036
320
P AGM001 Agammaglobulinemia 64 0.036
321
SKN016 Skin Disease 64 0.036
322
P DRR001 Diarrhea 59 0.036
323
SBS003 Substance Abuse 52 0.036
324
GLC008 Glucose Metabolism Disease 44 0.036
325
c MNT296 Mental Retardation, X-Linked, Syndromic 34 22 0.036
326
c SYS001 Systemic Lupus Erythematosus 86 0.035
327
CRD119 Cardiac Arrest 59 0.035
328
CLF001 Cleft Lip 49 0.035
329
LKC003 Leukocyte Disease 46 0.035
330
PRP007 Priapism 45 0.035
331
SKN027 Skin Conditions 44 0.035
332
BNC003 Bone Cancer 42 0.035
333
ADJ001 Adjustment Disorder 38 0.035
334
P RTT002 Rett Syndrome 82 0.034
335
GTL001 Gitelman Syndrome 61 0.034
336
c LCL006 Localized Scleroderma 60 0.034
337
c PRC016 Pre-Eclampsia 56 0.034
338
NRN004 Neuroendocrine Tumor 55 0.034
339
FRS002 Frasier Syndrome 49 0.034
340
OVR063 Overnutrition 48 0.034
341
YLL001 Yellow Nail Syndrome 48 0.034
342
HPT074 Hepatic Adenoma, Somatic 44 0.034
343
PLC003 Placental Site Trophoblastic Tumor 42 0.034
344
MRS004 Marshall-Smith Syndrome 41 0.034
345
IDP070 Idiopathic Scoliosis 39 0.034
346
P CHR084 Chromosomal Disease 37 0.034
347
LYD011 Leydig Cell Hypoplasia 31 0.034
348
LYM043 Lymphocytic Hypophysitis 30 0.034
349
c GLY017 Glycogen Storage Disease Ic 25 0.034
350
c PRM094 Premature Ovarian Failure 5 24 0.034
351
MSL001 Measles 58 0.033
352
JCB001 Jacobsen Syndrome 50 0.033
353
VND001 Vein Disease 49 0.033
354
INT075 Intracranial Hypertension 48 0.033
355
HYD002 Hydronephrosis 46 0.033
356
3MS007 3-M Syndrome 1 45 0.033
357
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 41 0.033
358
c EPD044 Epidermolysis Bullosa Dystrophica, Ar 38 0.033
359
c RBN021 Rubinstein-Taybi Syndrome 1 32 0.033
360
P PLT008 Pili Torti 27 0.033
361
c MNT226 Mental Retardation, Autosomal Dominant 31 23 0.033
362
c MNT275 Mental Retardation, Autosomal Recessive 60 16 0.033
363
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 14 0.033
364
P PLM036 Pulmonary Fibrosis 68 0.032
365
GLC006 Galactosemia 66 0.032
366
OTT002 Otitis Media 65 0.032
367
MDD011 Mood Disorder 59 0.032
368
P PRT013 Portal Hypertension 58 0.032
369
TST014 Testicular Cancer 52 0.032
370
GNR004 Generalized Anxiety Disorder 49 0.032
371
c MCP040 Mucopolysaccharidosis-Plus Syndrome 48 0.032
372
LMB050 Limbal Stem Cell Deficiency 42 0.032
373
EXT022 Exotropia 39 0.032
374
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.032
375
ACR002 Acrocapitofemoral Dysplasia 26 0.032
376
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 23 0.032
377
HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 22 0.032
378
GRW003 Growth Hormone Insensitivity with Immunodeficiency 21 0.032
379
c MRG014 Meier-Gorlin Syndrome 6 18 0.032
380
ULN007 Ulna Metaphyseal Dysplasia Syndrome 16 0.032
381
MRF001 Marfan Syndrome 74 0.030
382
P ANR002 Aniridia 66 0.030
383
EWN003 Ewing Sarcoma 64 0.030
384
PTR032 Peters-Plus Syndrome 59 0.030
385
BLR001 Biliary Atresia 51 0.030
386
MCP006 Mucoepidermoid Carcinoma 47 0.030
387
PPL021 Papilledema 47 0.030
388
c CLR085 Colorectal Cancer 1 46 0.030
389
NRP015 Neuropathy, Congenital Hypomyelinating 45 0.030
390
CLF004 Cleft Lip/palate 45 0.030
391
WLS004 Wilson-Turner Syndrome 40 0.030
392
SPR007 Superior Mesenteric Artery Syndrome 40 0.030
393
FXF002 Fox-Fordyce Disease 37 0.030
394
GGN002 Gigantism 32 0.030
395
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 27 0.030
396
c OVR107 Ovarian Dysgenesis 4 25 0.030
397
BCK001 Becker Muscular Dystrophy 71 0.028
398
P OST002 Osteoporosis 63 0.028
399
CRB011 Cerebrotendinous Xanthomatosis 62 0.028
400
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58 0.028
401
P EXN002 Exanthem 57 0.028
402
CHR029 Choroid Plexus Papilloma 56 0.028
403
INT079 Intrahepatic Cholangiocarcinoma 55 0.028
404
MCK005 Mckusick-Kaufman Syndrome 55 0.028
405
P GRS003 Griscelli Syndrome 54 0.028
406
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53 0.028
407
VSC006 Vascular Cancer 52 0.028
408
WST005 West Nile Virus 51 0.028
409
GNG012 Gingival Overgrowth 51 0.028
410
P AXN002 Axenfeld-Rieger Syndrome 51 0.028
411
P OST028 Osteochondroma 47 0.028
412
P PRD008 Periodontitis 46 0.028
413
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 46 0.028
414
MLK006 Milk Allergy 43 0.028
415
PRT026 Parotitis 42 0.028
416
c WRB002 Warburg Micro Syndrome 1 41 0.028
417
c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41 0.028
418
c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40 0.028
419
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39 0.028
420
ANR018 Anorchia 37 0.028
421
AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 37 0.028
422
CLC011 Cloacal Exstrophy 35 0.028
423
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35 0.028
424
MYX004 Myxedema 34 0.028
425
ORC001 Orchitis 32 0.028
426
c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32 0.028
427
DSR005 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 29 0.028
428
c NML009 Nemaline Myopathy 2, Autosomal Recessive 28 0.028
429
P SNG004 Singleton Merten Syndrome 25 0.028
430
HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 25 0.028
431
ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 25 0.028
432
HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 23 0.028
433
c SNG011 Singleton-Merten Syndrome 1 23 0.028
434
HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 22 0.028
435
HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22 0.028
436
HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 21 0.028
437
VSC009 Vascular Skin Disease 20 0.028
438
HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 20 0.028
439
PLY115 Polyendocrine-Polyneuropathy Syndrome 18 0.028
440
HYP683 Hypogonadism-Cataract Syndrome 17 0.028
441
HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 14 0.028
442
OVR029 Ovarian Hyperstimulation Syndrome 61 0.026
443
LPP001 Lipoprotein Lipase Deficiency 59 0.026
444
NRF007 Neurofibroma 58 0.026
445
P ALC004 Alcohol Abuse 57 0.026
446
PLL001 Pallister-Hall Syndrome 56 0.026
447
BLD034 Bile Duct Carcinoma 55 0.026
448
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 53 0.026
449
BLR007 Biliary Tract Neoplasm 50 0.026
450
PSD007 Pseudomyxoma Peritonei 49 0.026
451
OPT003 Opiate Dependence 49 0.026
452
WDH003 Woodhouse-Sakati Syndrome 47 0.026
453
c OST119 Osteogenesis Imperfecta, Type Vii 46 0.026
454
P PRM018 Primary Hypertrophic Osteoarthropathy 43 0.026
455
STT007 Steatocystoma Multiplex 42 0.026
456
P TST026 Testicular Germ Cell Cancer 40 0.026
457
c PRG106 Progressive Muscular Dystrophy 40 0.026
458
GST078 Gastrointestinal Allergy 39 0.026
459
P CRN026 Corneal Edema 39 0.026
460
PLX002 Plexiform Neurofibroma 39 0.026
461
BLD032 Bile Duct Adenocarcinoma 38 0.026
462
HRM002 Hermaphroditism 38 0.026
463
GRN022 Granulosa Cell Tumor of the Ovary 37 0.026
464
CMB021 Combined Pituitary Hormone Deficiency 36 0.026
465
EXC003 Excessive Tearing 35 0.026
466
c CRD187 Cardiomyopathy, Dilated, 3b 35 0.026
467
c PRM032 Primary Congenital Glaucoma 32 0.026
468
ADL086 Adolescent Idiopathic Scoliosis 32 0.026
469
LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 31 0.026
470
P ATX010 Ataxia Neuropathy Spectrum 27 0.026
471
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26 0.026
472
MSC012 Muscular Dystrophy, Duchenne and Becker Type 25 0.026
473
c PTT030 Pitt-Hopkins-Like Syndrome 2 25 0.026
474
c SCH059 Schizophrenia 17 25 0.026
475
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 25 0.026
476
c ERL012 Early-Onset Glaucoma 24 0.026
477
c FRN048 Frontometaphyseal Dysplasia 2 22 0.026
478
ACR044 Acroosteolysis Dominant Type 21 0.026
479
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 20 0.026
480
SKT001 Sakati Syndrome 20 0.026
481
CNG101 Congenital Human Immunodeficiency Virus 20 0.026
482
CRT065 Cortisone Reductase Deficiency 1 20 0.026
483
P CTS012 Cutis Verticis Gyrata 19 0.026
484
c WLF010 Wolfram Syndrome-Like Disease 18 0.026
485
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 18 0.026
486
INS010 Insulin-Resistant Acanthosis Nigricans, Type a 18 0.026
487
ATR076 Atrophic Muscular Disease 18 0.026
488
ATX021 Ataxia - Hypogonadism - Choroidal Dystrophy 15 0.026
489
FRL002 Froelich Syndrome 15 0.026
490
46X011 46, Xy Disorders of Sexual Development 15 0.026
491
c PTR011 Paternal Uniparental Disomy of Chromosome 1 15 0.026
492
CHL124 Childhood Ovarian Cancer 14 0.026
493
c KLL008 Kallmann Syndrome 6 14 0.026
494
c MTR061 Maternal Uniparental Disomy of Chromosome 6 13 0.026
495
46X004 46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 10 0.026
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