Search results for delayed puberty

505 hits were found for delayed puberty

# Family MCID Name MIFTS Score
1
P PRC019 Precocious Puberty 52 0.641
2
AGN016 Aging 65 0.180
3
HYP231 Hypothalamic Hamartomas 49 0.146
4
HYP080 Hypogonadism 54 0.145
5
GND003 Gonadal Disease 32 0.144
6
INS024 Insulin-Like Growth Factor I 83 0.143
7
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.142
8
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.141
9
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.141
10
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.141
11
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.141
12
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.141
13
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.141
14
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.141
15
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.141
16
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.141
17
HYP730 Hypogonadotropic Hypogonadism 56 0.136
18
NRN002 Neuronitis 43 0.126
19
P HYP086 Hypothyroidism 62 0.124
20
P TRN020 Turner Syndrome 69 0.123
21
HYP064 Hypogonadotropism 38 0.122
22
CRB009 Cerebritis 41 0.119
23
GRW007 Growth Hormone Deficiency 52 0.115
24
P DBT009 Diabetes Mellitus 72 0.103
25
P EPL164 Epilepsy 70 0.102
26
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.101
27
BDY007 Body Mass Index Quantitative Trait Locus 1 23 0.100
28
P THY032 Thyroiditis 56 0.088
29
P PRD006 Prader-Willi Syndrome 66 0.087
30
P KLL001 Kallmann Syndrome 63 0.082
31
ULN003 Ulnar-Mammary Syndrome 50 0.081
32
P HYP265 Hypotonia 40 0.081
33
PRS047 Prostatitis 59 0.081
34
ADN018 Adenoma 63 0.080
35
c BLD140 Blood Group, I System 37 0.080
36
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.080
37
P PLY011 Polycystic Ovary Syndrome 65 0.079
38
WLL001 Williams-Beuren Syndrome 63 0.079
39
CRN036 Craniopharyngioma 63 0.078
40
ADR049 Adrenal Hypoplasia, Congenital 47 0.078
41
ARM001 Aromatase Deficiency 52 0.077
42
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.076
43
MNG003 Mungan Syndrome 34 0.075
44
P ANR048 Aniridia 1 68 0.075
45
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52 0.074
46
ANR038 Anorexia Nervosa 1 21 0.073
47
BLD137 Blood Group--Ahonen 17 0.073
48
P BRS047 Breast Cancer 100 0.073
49
AMN001 Amenorrhea 55 0.072
50
AND002 Androgen Insensitivity Syndrome 57 0.071
51
P ATS364 Autism 70 0.071
52
P PNC044 Pancreatitis 64 0.070
53
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.070
54
P HYD006 Hydrocephalus 68 0.069
55
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.069
56
ACR012 Aicardi Syndrome 49 0.068
57
MDS022 Mediastinitis 44 0.068
58
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.068
59
P LKM002 Leukemia 75 0.068
60
P HRT032 Heart Disease 80 0.066
61
SXD001 Sex Differentiation Disease 37 0.066
62
P THL005 Thalassemia 65 0.065
63
ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 39 0.065
64
VGN023 Vaginitis 59 0.065
65
P INF032 Infertility 59 0.064
66
SLP010 Slipped Capital Femoral Epiphysis 37 0.064
67
RVL002 Ruvalcaba Syndrome 37 0.064
68
c CNG006 Congenital Hypothyroidism 62 0.064
69
SMT008 Smith-Magenis Syndrome 54 0.064
70
BRN071 Brain Injury 54 0.063
71
LRN002 Laron Syndrome 63 0.063
72
END072 Endotheliitis 46 0.063
73
ALP046 Alport Syndrome, X-Linked 74 0.062
74
c BTT014 Beta-Thalassemia 70 0.062
75
P MYP004 Myopathy 69 0.062
76
PSD009 Pseudohermaphroditism 42 0.061
77
P AST007 Astrocytoma 66 0.061
78
IMM179 Immunodeficiency 31c 29 0.061
79
P GRM010 Germ Cells Tumors 37 0.060
80
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.059
81
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.059
82
ALR002 Al-Raqad Syndrome 30 0.059
83
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.058
84
P HPT021 Hepatitis 75 0.058
85
PRG023 Progeroid Short Stature with Pigmented Nevi 32 0.058
86
NVS017 Nevus, Epidermal 66 0.058
87
ISL003 Isolated Growth Hormone Deficiency 57 0.058
88
ARC002 Arachnoiditis 45 0.058
89
c ATS007 Autism Spectrum Disorder 68 0.057
90
P ATX030 Ataxia-Telangiectasia 80 0.057
91
FBR012 Fabry Disease 72 0.057
92
P CMR001 Camurati-Engelmann Disease 62 0.057
93
ACD008 Acid-Labile Subunit Deficiency 46 0.057
94
P TRT010 Teratoma 53 0.057
95
FBR009 Fibrous Dysplasia 49 0.057
96
P PLY019 Polyneuropathy 58 0.056
97
FLT006 Floating-Harbor Syndrome 45 0.056
98
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 42 0.056
99
RCK004 Rickets 63 0.055
100
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.054
101
EPP010 Epiphysiolysis of the Hip 20 0.054
102
P OVR049 Ovarian Disease 58 0.054
103
HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 51 0.054
104
ARC007 Arachnoid Cysts 39 0.054
105
HTC003 Hutchinson-Gilford Progeria Syndrome 62 0.054
106
PTT009 Pituitary Gland Disease 56 0.054
107
P STS008 Sotos Syndrome 1 56 0.054
108
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.054
109
P KDN018 Kidney Disease 69 0.053
110
P HYP040 Hypospadias 60 0.053
111
TRM010 Traumatic Brain Injury 54 0.052
112
CYS036 Cystinosis, Nephropathic 47 0.052
113
SPS003 Spastic Diplegia 55 0.052
114
HYP020 Hyperprolactinemia 64 0.052
115
GRD009 Gordon Holmes Syndrome 38 0.052
116
ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 36 0.052
117
PRP016 Paraplegia 53 0.052
118
PNC034 Pancreas Disease 59 0.052
119
PHN003 Phenylketonuria 73 0.051
120
P NRC002 Narcolepsy 64 0.051
121
PTT048 Pituitary Adenoma, Prolactin-Secreting 63 0.051
122
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.051
123
ANV001 Anovulation 48 0.051
124
P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21 0.051
125
FNC050 Functioning Gonadotropic Adenoma 15 0.051
126
CRB037 Cerebral Palsy 70 0.051
127
MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22 0.051
128
P MSC005 Muscular Dystrophy 66 0.051
129
CYS010 Cystinosis 55 0.051
130
URT001 Urethritis 44 0.051
131
P ART022 Arthritis 77 0.051
132
CHN016 Cohen Syndrome 48 0.050
133
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.050
134
P GLM045 Glioma 61 0.050
135
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38 0.050
136
P HST010 Histiocytosis 60 0.050
137
P GND004 Gonadal Dysgenesis 50 0.050
138
HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40 0.050
139
PNL021 Pineal Cyst 21 0.050
140
GNT050 Genitourinary Tract Anomalies 41 0.050
141
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 21 0.050
142
AST005 Asthma 83 0.049
143
MSC157 Muscular Dystrophy, Duchenne Type 74 0.049
144
P SLV001 Silver-Russell Syndrome 57 0.049
145
c HMP004 Hemophilia B 67 0.049
146
CHR103 Charge Syndrome 59 0.049
147
c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37 0.049
148
MSC033 Muscle Disorders 53 0.049
149
P ANG001 Angelman Syndrome 61 0.048
150
WLF002 Wolf-Hirschhorn Syndrome 54 0.048
151
c PST041 Posterior Urethral Valves 51 0.048
152
MSC004 Muscle Tissue Disease 39 0.048
153
c PRM196 Premature Ovarian Failure 1 68 0.048
154
c TBR025 Tuberous Sclerosis 1 63 0.048
155
HYP780 Hypoadrenocorticism, Familial 59 0.048
156
c CRP023 Carpenter Syndrome 1 57 0.048
157
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 53 0.048
158
TRP009 Triple X Syndrome 39 0.048
159
OLV004 Oliver-Mcfarlane Syndrome 33 0.048
160
SMT004 Smith-Lemli-Opitz Syndrome 70 0.048
161
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.047
162
c VSC019 Vesicoureteral Reflux 1 54 0.047
163
BLP004 Blepharophimosis 34 0.047
164
c MRG014 Meier-Gorlin Syndrome 6 21 0.047
165
HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17 0.047
166
P HPT023 Hepatocellular Carcinoma 94 0.046
167
P SCL018 Scoliosis 56 0.046
168
EST007 Estrogen Resistance 40 0.046
169
PTC001 Potocki-Shaffer Syndrome 38 0.046
170
GRW023 Growth Hormone Deficiency, Isolated Partial 29 0.046
171
c MNT275 Mental Retardation, Autosomal Recessive 60 19 0.046
172
P RHB003 Rhabdomyosarcoma 61 0.046
173
PLL001 Pallister-Hall Syndrome 59 0.046
174
c TRC092 Trichorhinophalangeal Syndrome, Type I 48 0.046
175
P MLT020 Multiple Sclerosis 85 0.046
176
BNF002 Bone Fracture 56 0.046
177
LNG108 Langerhans Cell Histiocytosis 63 0.045
178
c NRF024 Neurofibromatosis, Type I 63 0.045
179
HPT022 Hepatoblastoma 55 0.045
180
P LYD011 Leydig Cell Hypoplasia 35 0.045
181
ALP072 Alpha-Fetoprotein Deficiency 32 0.045
182
DWN001 Down Syndrome 70 0.045
183
P FRG001 Fragile X Syndrome 69 0.045
184
P CLC063 Celiac Disease 1 65 0.045
185
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.045
186
PTT041 Pituitary Stalk Interruption Syndrome 47 0.045
187
c MNT296 Mental Retardation, X-Linked, Syndromic 34 25 0.045
188
MSC089 Mosaic Monosomy X 22 0.045
189
c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21 0.045
190
ANX010 Anxiety 72 0.045
191
NRM005 Neuromuscular Disease 60 0.045
192
c GLY060 Glycogen Storage Disease Ia 57 0.045
193
DNC004 Diencephalic Syndrome 37 0.045
194
c OVR076 Ovarian Dysgenesis 2 24 0.045
195
HYP610 Hypothyroidism, Central, and Testicular Enlargement 21 0.045
196
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 18 0.045
197
c PRM091 Premature Ovarian Failure 2b 15 0.045
198
P CRN300 Coronary Heart Disease 1 57 0.044
199
P LYM026 Lymphoblastic Leukemia 66 0.044
200
P CRN015 Cornelia De Lange Syndrome 65 0.044
201
LWC002 Lowe Oculocerebrorenal Syndrome 62 0.044
202
c GCH017 Gaucher Disease, Type Iii 47 0.044
203
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 36 0.044
204
MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 29 0.044
205
CYS001 Cystic Fibrosis 85 0.044
206
P HMP007 Hemophilia 61 0.043
207
PRV006 Pervasive Developmental Disorder 56 0.043
208
P HYP024 Hypoparathyroidism 55 0.043
209
P DBT005 Diabetes Insipidus 54 0.043
210
P PTS002 Ptosis 50 0.043
211
SKL017 Skeletal Dysplasias 48 0.043
212
GRW036 Growth Control, Y-Chromosome Influenced 33 0.043
213
c MCR316 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 21 0.043
214
19P001 19p13.12 Microdeletion Syndrome 18 0.043
215
PLC008 Placenta Disease 48 0.043
216
P PSR002 Psoriasis 65 0.043
217
P PLC011 Pilocytic Astrocytoma 63 0.043
218
P NNT009 Neonatal Diabetes Mellitus 48 0.043
219
PST011 Pustulosis of Palm and Sole 47 0.043
220
ISC016 Ischiocoxopodopatellar Syndrome 30 0.043
221
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 25 0.043
222
BLD163 Blood Group, Dombrock System 23 0.043
223
P DMN001 Diamond-Blackfan Anemia 70 0.041
224
MNT002 Mental Depression 60 0.041
225
DNH001 Donohue Syndrome 60 0.041
226
c GCH015 Gaucher Disease, Type I 57 0.041
227
ALS001 Alstrom Syndrome 55 0.041
228
P ASP001 Asperger Syndrome 51 0.041
229
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 0.041
230
EPC005 Epicanthus 35 0.041
231
PRP037 Proopiomelanocortin Deficiency 34 0.041
232
TMP012 Temple Syndrome 34 0.041
233
PRP098 Proprotein Convertase 1/3 Deficiency 28 0.041
234
GRW026 Growth Hormone Insensitivity, Partial 27 0.041
235
c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26 0.041
236
HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20 0.041
237
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 18 0.041
238
8PN001 8p Inverted Duplication/deletion Syndrome 18 0.041
239
NRC007 Neuroectodermal Endocrine Syndrome 15 0.041
240
KLL013 Kallmann Syndrome-Heart Disease Syndrome 15 0.041
241
ITR002 Iatrogenic or Traumatic Pituitary Deficiency 14 0.041
242
CLF027 Cleft Palate, Isolated 61 0.041
243
SYN005 Synostosis 50 0.041
244
P NRV007 Nervous System Disease 75 0.040
245
c CHR089 Chronic Kidney Failure 72 0.040
246
SPS057 Spasticity 41 0.040
247
P NNN008 Noonan Syndrome 1 77 0.040
248
CNN003 Conn's Syndrome 70 0.040
249
P ALG028 Alagille Syndrome 1 68 0.040
250
P GCH001 Gaucher's Disease 62 0.040
251
ALX003 Alexander Disease 58 0.040
252
c CNG021 Congenital Toxoplasmosis 57 0.040
253
P PLY006 Polydactyly 57 0.040
254
c PSD108 Pseudohypoparathyroidism, Type Ia 57 0.040
255
ARS001 Aarskog-Scott Syndrome 55 0.040
256
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.040
257
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.040
258
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.040
259
ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 52 0.040
260
46X052 46,xx Sex Reversal 1 52 0.040
261
HYP691 Hypomelanosis of Ito 49 0.040
262
46X012 46,xy Partial Gonadal Dysgenesis 41 0.040
263
P PHS005 Peho Syndrome 36 0.040
264
48X003 48,xxyy Syndrome 33 0.040
265
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27 0.040
266
DFN313 Deafness-Hypogonadism Syndrome 27 0.040
267
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25 0.040
268
HYP683 Hypogonadism-Cataract Syndrome 22 0.040
269
49X001 49, Xxxxx 22 0.040
270
CHR362 Chromosome 17q21.31 Duplication Syndrome 19 0.040
271
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 18 0.040
272
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 18 0.040
273
HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17 0.040
274
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 17 0.040
275
HRN021 Hernández-Aguirre Negrete Syndrome 14 0.040
276
P NRF023 Neurofibromatosis, Type Ii 69 0.040
277
P PRT008 Proteus Syndrome 67 0.040
278
HSH003 Hashimoto Thyroiditis 67 0.040
279
MYL020 Myelomeningocele 54 0.040
280
ADR008 Adrenal Adenoma 51 0.040
281
GLC096 Galactorrhea 44 0.040
282
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 40 0.040
283
GNG013 Gingivitis 64 0.038
284
P SNS014 Sinusitis 62 0.038
285
NRR002 Norrie Disease 61 0.038
286
P WLF004 Wolfram Syndrome 61 0.038
287
P PTT006 Pituitary Adenoma 57 0.038
288
P TWN003 Townes-Brocks Syndrome 57 0.038
289
P HYP076 Hyperthyroidism 56 0.038
290
CHR074 Choriocarcinoma 49 0.038
291
MYH012 Myhre Syndrome 41 0.038
292
LPT006 Leptin Receptor Deficiency 36 0.038
293
c LPR012 Leopard Syndrome 1 33 0.038
294
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24 0.038
295
HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 21 0.038
296
HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 20 0.038
297
HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 19 0.038
298
HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 19 0.038
299
P SCH015 Schizophrenia 71 0.038
300
P LPS004 Lupus Erythematosus 69 0.038
301
P HYP083 Hypopituitarism 59 0.038
302
SCK005 Sickle Cell Disease 54 0.038
303
LRN003 Learning Disability 49 0.038
304
GLC008 Glucose Metabolism Disease 38 0.038
305
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 33 0.038
306
MHM001 Mehmo Syndrome 30 0.038
307
P AGM001 Agammaglobulinemia 70 0.037
308
P MYL006 Myeloid Leukemia 69 0.037
309
HYP066 Hyperglycemia 64 0.037
310
P DRR001 Diarrhea 60 0.037
311
P SBS003 Substance Abuse 57 0.037
312
P CNT056 Cantu Syndrome 51 0.037
313
IRN002 Iron Metabolism Disease 45 0.037
314
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 30 0.037
315
P RTT002 Rett Syndrome 82 0.036
316
P MTC003 Metachromatic Leukodystrophy 72 0.036
317
P END044 Endometriosis 71 0.036
318
P TYS001 Tay-Sachs Disease 71 0.036
319
WRN001 Werner Syndrome 70 0.036
320
P TBR001 Tuberous Sclerosis 69 0.036
321
P TXP001 Toxoplasmosis 65 0.036
322
MCK007 Muckle-Wells Syndrome 64 0.036
323
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.036
324
P PRP029 Porphyria 62 0.036
325
P KBK002 Kabuki Syndrome 1 62 0.036
326
SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60 0.036
327
c MCP004 Mucopolysaccharidosis Iv 60 0.036
328
P HYP069 Hyperparathyroidism 58 0.036
329
P FRD012 Friedreich Ataxia 1 58 0.036
330
P ECL001 Eclampsia 57 0.036
331
SPT006 Septooptic Dysplasia 54 0.036
332
HPT082 Hepatic Adenomas, Familial 52 0.036
333
P ACT150 Acute Adrenal Insufficiency 51 0.036
334
ADR004 Adrenal Cortical Adenocarcinoma 47 0.036
335
TSH001 Tsh Producing Pituitary Tumor 42 0.036
336
3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 42 0.036
337
c CNG208 Congenital Disorder of Glycosylation, Type Iic 42 0.036
338
OLG001 Oligospermia 39 0.036
339
c GLY016 Glycogen Storage Disease Ib 36 0.036
340
c CNG379 Congenital Disorder of Glycosylation, Type It 34 0.036
341
ATY016 Atypical Werner Syndrome 31 0.036
342
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 29 0.036
343
c FRN048 Frontometaphyseal Dysplasia 2 29 0.036
344
c GLY043 Glycogen Storage Disease Xii 27 0.036
345
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25 0.036
346
c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24 0.036
347
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22 0.036
348
HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 19 0.036
349
HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 19 0.036
350
HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 18 0.036
351
HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 18 0.036
352
GMG001 Gemignani Syndrome 17 0.036
353
c PTR011 Paternal Uniparental Disomy of Chromosome 1 16 0.036
354
c MTR061 Maternal Uniparental Disomy of Chromosome 6 15 0.036
355
c ART148 Arteriosclerosis, Severe Juvenile 14 0.036
356
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 12 0.036
357
SCK003 Sickle Cell Anemia 73 0.036
358
c HPT016 Hepatitis B 68 0.036
359
SKN016 Skin Disease 68 0.036
360
SKN027 Skin Conditions 48 0.036
361
c SYS001 Systemic Lupus Erythematosus 86 0.035
362
P AGM019 Agammaglobulinemia, X-Linked 69 0.035
363
CRD119 Cardiac Arrest 63 0.035
364
GLC003 Glucose Intolerance 58 0.035
365
CLF001 Cleft Lip 54 0.035
366
P THR117 Three M Syndrome 1 52 0.035
367
PRP007 Priapism 49 0.035
368
c OPT051 Opitz Gbbb Syndrome, Type I 47 0.035
369
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44 0.035
370
P MCR323 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 20 0.035
371
c LCL006 Localized Scleroderma 66 0.034
372
c PRC016 Pre-Eclampsia 65 0.034
373
c TBR026 Tuberous Sclerosis 2 65 0.034
374
NRN004 Neuroendocrine Tumor 58 0.034
375
OST015 Osteochondrodysplasia 54 0.034
376
OVR063 Overnutrition 53 0.034
377
FRS002 Frasier Syndrome 51 0.034
378
TTH032 Tooth Size 44 0.034
379
MRS004 Marshall-Smith Syndrome 43 0.034
380
IDP070 Idiopathic Scoliosis 42 0.034
381
c GLY017 Glycogen Storage Disease Ic 28 0.034
382
INS010 Insulin-Resistant Acanthosis Nigricans, Type a 18 0.034
383
P PRT013 Portal Hypertension 59 0.033
384
INT075 Intracranial Hypertension 53 0.033
385
c RBN021 Rubinstein-Taybi Syndrome 1 50 0.033
386
HYD002 Hydronephrosis 49 0.033
387
c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 47 0.033
388
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40 0.033
389
c MNT226 Mental Retardation, Autosomal Dominant 31 22 0.033
390
MRF001 Marfan Syndrome 75 0.032
391
GLC006 Galactosemia 64 0.032
392
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59 0.032
393
GNR004 Generalized Anxiety Disorder 53 0.032
394
EXT022 Exotropia 41 0.032
395
c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 32 0.032
396
c MYT029 Myotonia Congenita, Autosomal Recessive 32 0.032
397
P PLT008 Pili Torti 29 0.032
398
ACR002 Acrocapitofemoral Dysplasia 25 0.032
399
HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 22 0.032
400
GRW003 Growth Hormone Insensitivity with Immunodeficiency 21 0.032
401
HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 18 0.032
402
ULN007 Ulna Metaphyseal Dysplasia Syndrome 18 0.032
403
P OST002 Osteoporosis 75 0.030
404
EWN003 Ewing Sarcoma 72 0.030
405
P PRD008 Periodontitis 67 0.030
406
MDD011 Mood Disorder 64 0.030
407
c LPM012 Lipomatosis, Multiple 64 0.030
408
MSC007 Muscle Hypertrophy 57 0.030
409
TST014 Testicular Cancer 54 0.030
410
OPT003 Opiate Dependence 54 0.030
411
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53 0.030
412
c CNG012 Congenital Generalized Lipodystrophy 51 0.030
413
PPL021 Papilledema 50 0.030
414
CLF004 Cleft Lip/palate 49 0.030
415
INT303 Intracranial Hypertension, Idiopathic 49 0.030
416
GGN002 Gigantism 36 0.030
417
DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31 0.030
418
VSL002 Visual Epilepsy 27 0.030
419
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 24 0.030
420
HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 23 0.030
421
GMB001 Gombo Syndrome 18 0.030
422
P MJR001 Major Depressive Disorder 70 0.028
423
MSC152 Muscular Dystrophy, Becker Type 64 0.028
424
CRB011 Cerebrotendinous Xanthomatosis 64 0.028
425
P EXN002 Exanthem 62 0.028
426
LMY014 Leiomyoma, Uterine 61 0.028
427
P GRS003 Griscelli Syndrome 58 0.028
428
BLR001 Biliary Atresia 56 0.028
429
MCK005 Mckusick-Kaufman Syndrome 55 0.028
430
PRT038 Protein-Energy Malnutrition 52 0.028
431
GNG012 Gingival Overgrowth 52 0.028
432
P OST028 Osteochondroma 51 0.028
433
P PSD015 Pseudohypoparathyroidism 50 0.028
434
P RBN002 Robinow Syndrome 48 0.028
435
PPL058 Papilloma of Choroid Plexus 47 0.028
436
MLK006 Milk Allergy 46 0.028
437
P PRT026 Parotitis 45 0.028
438
MYX004 Myxedema 44 0.028
439
ISL115 Isolated Growth Hormone Deficiency, Type Iii 42 0.028
440
c WRB002 Warburg Micro Syndrome 1 42 0.028
441
FXF002 Fox-Fordyce Disease 40 0.028
442
CLC011 Cloacal Exstrophy 38 0.028
443
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 38 0.028
444
HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35 0.028
445
ORC001 Orchitis 34 0.028
446
c NML004 Nemaline Myopathy 3 34 0.028
447
c ACR044 Acroosteolysis Dominant Type 29 0.028
448
c NML003 Nemaline Myopathy 2 29 0.028
449
HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28 0.028
450
ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 28 0.028
451
HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 24 0.028
452
c SNG011 Singleton-Merten Syndrome 1 23 0.028
453
HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 23 0.028
454
c CMR006 Camurati-Engelmann Disease, Type 2 21 0.028
455
PLY115 Polyendocrine-Polyneuropathy Syndrome 21 0.028
456
HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 19 0.028
457
HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 18 0.028
458
c LKM063 Leukemia, Chronic Myeloid 80 0.026
459
c HRD010 Hereditary Spastic Paraplegia 68 0.026
460
NRF007 Neurofibroma 65 0.026
461
GTL001 Gitelman Syndrome 62 0.026
462
P BRN019 Bernard-Soulier Syndrome 60 0.026
463
c GLY003 Glycogen Storage Disease Iii 56 0.026
464
MYM001 Myoma 56 0.026
465
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 55 0.026
466
c BLM008 Bulimia Nervosa 2 53 0.026
467
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.026
468
ANT003 Antley-Bixler Syndrome 50 0.026
469
WDH003 Woodhouse-Sakati Syndrome 47 0.026
470
c CRD187 Cardiomyopathy, Dilated, 3b 46 0.026
471
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.026
472
P PRM018 Primary Hypertrophic Osteoarthropathy 46 0.026
473
c OST119 Osteogenesis Imperfecta, Type Vii 45 0.026
474
PCT003 Pectus Excavatum 44 0.026
475
STT007 Steatocystoma Multiplex 44 0.026
476
P TST026 Testicular Germ Cell Cancer 44 0.026
477
HMH004 Hemihyperplasia, Isolated 43 0.026
478
c HMC009 Hemochromatosis Type 2 43 0.026
479
HRM002 Hermaphroditism 42 0.026
480
GRN022 Granulosa Cell Tumor of the Ovary 41 0.026
481
ANR018 Anorchia 40 0.026
482
PLX002 Plexiform Neurofibroma 40 0.026
483
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.026
484
ANS016 Anosmia 38 0.026
485
CMB021 Combined Pituitary Hormone Deficiency 37 0.026
486
MSC012 Muscular Dystrophy, Duchenne and Becker Type 35 0.026
487
LYM043 Lymphocytic Hypophysitis 34 0.026
488
c LYD012 Leydig Cell Hypoplasia, Type I 34 0.026
489
LTM002 Luteoma 32 0.026
490
P ACR106 Acrocephalopolysyndactyly Type Iii 28 0.026
491
P SCL057 Scoliosis, Isolated 1 28 0.026
492
CRT065 Cortisone Reductase Deficiency 1 27 0.026
493
c RTN140 Retinitis Pigmentosa 67 26 0.026
494
c PTT030 Pitt-Hopkins-Like Syndrome 2 23 0.026
495
SKT001 Sakati Syndrome 23 0.026
496
P CTS012 Cutis Verticis Gyrata 22 0.026
497
HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 19 0.026
498
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 19 0.026
499
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19 0.026
500
ATX021 Ataxia - Hypogonadism - Choroidal Dystrophy 18 0.026
501
CDK005 Cdkl5-Related Disorder 17 0.026
502
SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 17 0.026
503
c PRM094 Premature Ovarian Failure 5 17 0.026
504
FRL002 Froelich Syndrome 14 0.026
505
ATR076 Atrophic Muscular Disease 6 0.026
Content
Loading form....