Search results for "delayed puberty"

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

456 hits were found for 'delayed puberty'

# Family MCID Name MIFTS Score
1
P PRC019 Precocious Puberty 51 0.647
2
P OBS005 Obesity 92 0.148
3
HYP231 Hypothalamic Hamartomas 34 0.147
4
HYP080 Hypogonadism 53 0.141
5
GND003 Gonadal Disease 39 0.139
6
INS024 Insulin-Like Growth Factor I 75 0.136
7
NRN002 Neuronitis 41 0.131
8
P HYP086 Hypothyroidism 64 0.124
9
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.122
10
GRW007 Growth Hormone Deficiency 50 0.120
11
HYP064 Hypogonadotropism 37 0.118
12
P TRN020 Turner Syndrome 65 0.115
13
CRB009 Cerebritis 39 0.110
14
FML039 Female Reproductive System Disease 48 0.105
15
CNG368 Congenital Adrenal Hyperplasia 62 0.103
16
P EPL164 Epilepsy 66 0.103
17
RPR002 Reproductive System Disease 41 0.095
18
ACR002 Acrocapitofemoral Dysplasia 33 0.093
19
P THY032 Thyroiditis 54 0.091
20
ACD009 Acid-Labile Subunit, Deficiency of 45 0.090
21
BND014 Bone Development Disease 40 0.089
22
KDS001 Kid Syndrome 53 0.086
23
P PRD006 Prader-Willi Syndrome 62 0.085
24
PRS047 Prostatitis 56 0.085
25
P KLL001 Kallmann Syndrome 61 0.083
26
P PLY011 Polycystic Ovary Syndrome 65 0.083
27
P NRF002 Neurofibromatosis 71 0.082
28
CHL071 Child Syndrome 58 0.081
29
SXD001 Sex Differentiation Disease 38 0.079
30
CRN036 Craniopharyngioma 59 0.077
31
HYP043 Hyperandrogenism 47 0.077
32
P HYP265 Hypotonia 38 0.076
33
P INT063 Intellectual Disability 49 0.076
34
P HRT032 Heart Disease 75 0.075
35
KLN001 Klinefelter's Syndrome 50 0.073
36
NTR005 Nutritional Deficiency Disease 36 0.073
37
P HYD006 Hydrocephalus 66 0.072
38
ADN018 Adenoma 58 0.072
39
P PNC044 Pancreatitis 61 0.072
40
AND015 Androgen Insensitivity 64 0.071
41
SXL003 Sexual Disorder 42 0.070
42
P LKM002 Leukemia 71 0.069
43
AMN001 Amenorrhea 50 0.068
44
P MCR010 Microcephaly 58 0.068
45
P THL005 Thalassemia 64 0.068
46
P OVR049 Ovarian Disease 56 0.068
47
ARM001 Aromatase Deficiency 58 0.068
48
P BRS047 Breast Cancer 100 0.068
49
VGN023 Vaginitis 42 0.067
50
SLP010 Slipped Capital Femoral Epiphysis 34 0.067
51
WLL001 Williams-Beuren Syndrome 60 0.067
52
BRN071 Brain Injury 52 0.067
53
c CNG006 Congenital Hypothyroidism 60 0.067
54
P GND004 Gonadal Dysgenesis 51 0.067
55
MDS022 Mediastinitis 41 0.066
56
SMT008 Smith-Magenis Syndrome 52 0.066
57
END072 Endotheliitis 42 0.065
58
ACR012 Aicardi Syndrome 46 0.065
59
XLN010 X-Linked Adrenal Hypoplasia Congenita 35 0.064
60
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 43 0.064
61
P AST007 Astrocytoma 65 0.063
62
P MYP004 Myopathy 67 0.063
63
P INF032 Infertility 59 0.061
64
PSD009 Pseudohermaphroditism 40 0.060
65
MLR007 Male Reproductive System Disease 34 0.060
66
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.060
67
ISL003 Isolated Growth Hormone Deficiency 52 0.060
68
ARC002 Arachnoiditis 41 0.060
69
BNS002 Bone Structure Disease 37 0.060
70
P RCK004 Rickets 61 0.059
71
P TRT010 Teratoma 52 0.059
72
FBR009 Fibrous Dysplasia 45 0.059
73
P HPT021 Hepatitis 69 0.059
74
LRN004 Laron Dwarfism 58 0.059
75
P PLY019 Polyneuropathy 56 0.059
76
P UTR038 Uterine Disease 37 0.058
77
P CMR001 Camurati-Engelmann Disease 58 0.058
78
HND003 Hand-Foot-Uterus Syndrome 50 0.058
79
ALR002 Al-Raqad Syndrome 36 0.058
80
IMM107 Immunodeficiency 31c, Autosomal Dominant 27 0.058
81
FLT006 Floating-Harbor Syndrome 42 0.057
82
DSS008 Disease of Mental Health 52 0.057
83
ARC007 Arachnoid Cysts 39 0.057
84
HTC002 Hutchinson-Gilford Progeria 57 0.057
85
P ATS007 Autism Spectrum Disorder 65 0.056
86
P HYP040 Hypospadias 57 0.055
87
THL018 Thalassemia Major 48 0.055
88
c NRF018 Neurofibromatosis, Type 1 67 0.055
89
HYP020 Hyperprolactinemia 60 0.055
90
PRP016 Paraplegia 49 0.054
91
TRM010 Traumatic Brain Injury 52 0.054
92
PHN003 Phenylketonuria 72 0.054
93
P NRC002 Narcolepsy 62 0.054
94
CRY002 Cryptorchidism 60 0.054
95
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.054
96
ULN003 Ulnar-Mammary Syndrome 46 0.054
97
FNC050 Functioning Gonadotropic Adenoma 12 0.054
98
P SPS003 Spastic Diplegia 52 0.054
99
EST007 Estrogen Resistance 46 0.054
100
SPC003 Specific Developmental Disorder 38 0.054
101
P MSC005 Muscular Dystrophy 65 0.053
102
URT001 Urethritis 41 0.053
103
P ATX030 Ataxia-Telangiectasia 77 0.052
104
FBR012 Fabry Disease 69 0.052
105
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.052
106
P GLM045 Glioma 60 0.052
107
P HST010 Histiocytosis 58 0.052
108
PTT009 Pituitary Gland Disease 47 0.052
109
PNL021 Pineal Cyst 18 0.052
110
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.051
111
RVL002 Ruvalcaba Syndrome 39 0.051
112
P VSC005 Vesicoureteral Reflux 53 0.050
113
CYS010 Cystinosis 53 0.050
114
c PST041 Posterior Urethral Valves 47 0.050
115
P KDN018 Kidney Disease 66 0.050
116
LPD011 Lipoid Adrenal Hyperplasia 55 0.050
117
TRP009 Triple X Syndrome 40 0.050
118
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 34 0.050
119
P ART022 Arthritis 75 0.049
120
PLC008 Placenta Disease 33 0.049
121
P ANG001 Angelman Syndrome 61 0.049
122
P STS008 Sotos Syndrome 1 51 0.049
123
c CRN214 Coronary Heart Disease 5 22 0.049
124
HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 12 0.049
125
PCK002 Pick Disease 68 0.049
126
P MSC033 Muscle Disorders 52 0.049
127
P HPT023 Hepatocellular Carcinoma 92 0.048
128
PRV006 Pervasive Developmental Disorder 53 0.048
129
AYM001 Ayme-Gripp Syndrome 41 0.048
130
PTC001 Potocki-Shaffer Syndrome 36 0.048
131
SMT004 Smith-Lemli-Opitz Syndrome 66 0.048
132
RHB003 Rhabdomyosarcoma 57 0.048
133
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 52 0.048
134
3BT003 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 33 0.048
135
MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 33 0.048
136
NRM005 Neuromuscular Disease 56 0.047
137
LRN003 Learning Disability 49 0.047
138
P AST005 Asthma 82 0.047
139
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.047
140
DWN001 Down Syndrome 66 0.047
141
P NRN021 Neuronal Ceroid Lipofuscinosis 59 0.047
142
BLP004 Blepharophimosis 38 0.047
143
HPT022 Hepatoblastoma 55 0.047
144
ACN011 Acne 62 0.047
145
LPM004 Lipoma 60 0.047
146
P NNT009 Neonatal Diabetes Mellitus 52 0.047
147
ALL026 Allergic Hypersensitivity Disease 52 0.047
148
TMP012 Temple Syndrome 38 0.047
149
DNC004 Diencephalic Syndrome 33 0.047
150
P ATM080 Autoimmune Disease, Multisystem, Infantile-Onset 25 0.047
151
AND005 Androgen Insensitivity Syndrome, Mild 16 0.047
152
BNF002 Bone Fracture 50 0.046
153
P FRG001 Fragile X Syndrome 69 0.046
154
P CRN015 Cornelia De Lange Syndrome 62 0.046
155
LWS003 Lowe Syndrome 61 0.046
156
P SCL018 Scoliosis 55 0.046
157
PTT041 Pituitary Stalk Interruption Syndrome 42 0.046
158
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.046
159
CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 29 0.046
160
GRW023 Growth Hormone Deficiency, Isolated Partial 26 0.046
161
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 25 0.046
162
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.046
163
DCH001 Duchenne Muscular Dystrophy 79 0.045
164
P DMN001 Diamond-Blackfan Anemia 69 0.045
165
P ADD001 Addison's Disease 62 0.045
166
WLL006 Wells Syndrome 59 0.045
167
P HMP007 Hemophilia 57 0.045
168
P SLV001 Silver-Russell Syndrome 54 0.045
169
GNR004 Generalized Anxiety Disorder 51 0.045
170
c GCH017 Gaucher Disease, Type Iii 46 0.045
171
GDS001 Good Syndrome 44 0.045
172
c TBR024 Tuberous Sclerosis-1 63 0.044
173
P PSR002 Psoriasis 61 0.044
174
P HYP613 Hypophosphatemic Rickets 57 0.044
175
RBS003 Rabson-Mendenhall Syndrome 55 0.044
176
ACR041 Acromelic Frontonasal Dysostosis 45 0.044
177
TST015 Testicular Disease 44 0.044
178
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.044
179
BRT030 Birth Defects 43 0.044
180
HMH002 Hemihypertrophy 41 0.044
181
P OVR042 Ovarian Cancer 76 0.044
182
PNC034 Pancreas Disease 58 0.044
183
c PNC106 Pancreatic Agenesis 1 37 0.044
184
P ALX003 Alexander Disease 63 0.043
185
P MCP010 Mucopolysaccharidosis 60 0.043
186
c GCH015 Gaucher Disease, Type I 59 0.043
187
P FNC043 Fanconi Anemia, Complementation Group E 55 0.043
188
CHN016 Cohen Syndrome 54 0.043
189
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.043
190
P HYP024 Hypoparathyroidism 53 0.043
191
P DBT005 Diabetes Insipidus 53 0.043
192
P PTS002 Ptosis 51 0.043
193
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 44 0.043
194
OBS020 Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 32 0.043
195
OBS011 Obesity with Impaired Prohormone Processing 24 0.043
196
GRW026 Growth Hormone Insensitivity, Partial 24 0.043
197
HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20 0.043
198
NRC007 Neuroectodermal Endocrine Syndrome 19 0.043
199
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.043
200
8PN001 8p Inverted Duplication/deletion Syndrome 13 0.043
201
CYS001 Cystic Fibrosis 83 0.042
202
SYN005 Synostosis 46 0.042
203
SPS057 Spasticity 42 0.042
204
P ALG002 Alagille Syndrome 72 0.042
205
c HMP004 Hemophilia B 62 0.042
206
P GCH001 Gaucher's Disease 62 0.042
207
P LYM026 Lymphoblastic Leukemia 62 0.042
208
P WLF004 Wolfram Syndrome 61 0.042
209
P PLY006 Polydactyly 56 0.042
210
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.042
211
ALS001 Alstrom Syndrome 53 0.042
212
46X003 46,xx Testicular Disorder of Sex Development 48 0.042
213
CHR074 Choriocarcinoma 46 0.042
214
HYP691 Hypomelanosis of Ito 42 0.042
215
NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 36 0.042
216
46X012 46,xy Partial Gonadal Dysgenesis 35 0.042
217
48X003 48,xxyy Syndrome 26 0.042
218
MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 24 0.042
219
c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 20 0.042
220
49X001 49, Xxxxx 17 0.042
221
CHR362 Chromosome 17q21.31 Duplication Syndrome 17 0.042
222
RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 16 0.042
223
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 0.042
224
DFN313 Deafness-Hypogonadism Syndrome 14 0.042
225
EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 13 0.042
226
19P001 19p13.12 Microdeletion Syndrome 12 0.042
227
HRN021 Hernández-Aguirre Negrete Syndrome 10 0.042
228
P PRM019 Premature Ovarian Failure 64 0.042
229
P PLC011 Pilocytic Astrocytoma 60 0.042
230
EMB004 Embryonal Carcinoma 57 0.042
231
MYL020 Myelomeningocele 51 0.042
232
ADR008 Adrenal Adenoma 47 0.042
233
CRB025 Carbohydrate Metabolic Disorder 46 0.042
234
MXD032 Mixed Germ Cell Tumor 34 0.042
235
OLV004 Oliver-Mcfarlane Syndrome 29 0.042
236
P NRV006 Nervous System Cancer 60 0.041
237
SBS003 Substance Abuse 54 0.041
238
CSY001 C Syndrome 50 0.041
239
WLF002 Wolf-Hirschhorn Syndrome 49 0.041
240
ADJ001 Adjustment Disorder 38 0.041
241
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.041
242
P CSH001 Cushing's Syndrome 65 0.040
243
CHR103 Charge Syndrome 62 0.040
244
GNG013 Gingivitis 61 0.040
245
P SNS014 Sinusitis 60 0.040
246
NRR002 Norrie Disease 60 0.040
247
TWN003 Townes-Brocks Syndrome 53 0.040
248
c CNG021 Congenital Toxoplasmosis 48 0.040
249
SKL014 Skeletal Dysplasia 46 0.040
250
SKL017 Skeletal Dysplasias 45 0.040
251
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.040
252
P MCR235 Microcephaly, Short Stature, and Impaired Glucose Metabolism 17 0.040
253
c HPT016 Hepatitis B 65 0.040
254
P LPS004 Lupus Erythematosus 64 0.040
255
CYS036 Cystinosis, Nephropathic 41 0.040
256
P CRN178 Coronary Heart Disease 6 21 0.040
257
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.039
258
P SCH015 Schizophrenia 77 0.039
259
P PLM036 Pulmonary Fibrosis 71 0.039
260
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.039
261
SCK005 Sickle Cell Disease 51 0.039
262
P MSC003 Muscular Atrophy 50 0.039
263
FML037 Female Breast Cancer 50 0.039
264
P TYS001 Tay-Sachs Disease 71 0.038
265
WRN001 Werner Syndrome 67 0.038
266
P TBR001 Tuberous Sclerosis 67 0.038
267
P END044 Endometriosis 66 0.038
268
P FRD001 Friedreich Ataxia 62 0.038
269
P TXP001 Toxoplasmosis 61 0.038
270
MCK007 Muckle-Wells Syndrome 61 0.038
271
c MCP004 Mucopolysaccharidosis Iv 60 0.038
272
P PRP029 Porphyria 59 0.038
273
P HYP069 Hyperparathyroidism 58 0.038
274
c GLY060 Glycogen Storage Disease Ia 57 0.038
275
P ECL001 Eclampsia 54 0.038
276
EPD053 Epidermal Nevus, Somatic 53 0.038
277
PTT048 Pituitary Adenoma, Prolactin-Secreting 53 0.038
278
ASP001 Asperger Syndrome 50 0.038
279
P ACT150 Acute Adrenal Insufficiency 45 0.038
280
TSH001 Tsh Producing Pituitary Tumor 37 0.038
281
OLG001 Oligospermia 36 0.038
282
PHS005 Peho Syndrome 31 0.038
283
ATY016 Atypical Werner Syndrome 28 0.038
284
OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 27 0.038
285
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 18 0.038
286
CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 18 0.038
287
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 0.038
288
GMG001 Gemignani Syndrome 16 0.038
289
SCK003 Sickle Cell Anemia 71 0.038
290
P AGM001 Agammaglobulinemia 64 0.038
291
MDD011 Mood Disorder 61 0.038
292
INT075 Intracranial Hypertension 50 0.038
293
GLT021 Glutaricaciduria, Type I 46 0.038
294
MDY003 Mody, Type Ii 36 0.038
295
c SYS001 Systemic Lupus Erythematosus 86 0.036
296
P CLC005 Celiac Disease 68 0.036
297
P MYL006 Myeloid Leukemia 66 0.036
298
P DRR001 Diarrhea 60 0.036
299
BNC003 Bone Cancer 58 0.036
300
CLF001 Cleft Lip 50 0.036
301
c HMG001 Hemoglobin C Disease 47 0.036
302
PRP007 Priapism 46 0.036
303
LKC003 Leukocyte Disease 43 0.036
304
GLC008 Glucose Metabolism Disease 42 0.036
305
P OCY001 Oocyte Maturation Defect 38 0.036
306
LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 34 0.036
307
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.036
308
HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 23 0.036
309
P RTT002 Rett Syndrome 77 0.035
310
GTL001 Gitelman Syndrome 61 0.035
311
c LCL006 Localized Scleroderma 61 0.035
312
P HYP060 Hyperinsulinism 58 0.035
313
P MSC007 Muscle Hypertrophy 58 0.035
314
c PRC016 Pre-Eclampsia 56 0.035
315
NRN004 Neuroendocrine Tumor 56 0.035
316
OVR063 Overnutrition 50 0.035
317
c 46X001 46 Xy Gonadal Dysgenesis 49 0.035
318
P KBK002 Kabuki Syndrome 1 49 0.035
319
FRS002 Frasier Syndrome 47 0.035
320
CRR007 Cirrhosis, Cryptogenic 43 0.035
321
IDP070 Idiopathic Scoliosis 41 0.035
322
MRS004 Marshall-Smith Syndrome 40 0.035
323
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 36 0.035
324
VGN019 Vaginal Discharge 33 0.035
325
LYD011 Leydig Cell Hypoplasia 32 0.035
326
LYM043 Lymphocytic Hypophysitis 31 0.035
327
LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 31 0.035
328
SKN016 Skin Disease 66 0.035
329
CRD119 Cardiac Arrest 61 0.035
330
LPR018 Leprechaunism 58 0.035
331
INT007 Intermediate Coronary Syndrome 50 0.035
332
END035 Endocrine Gland Cancer 49 0.035
333
JCB001 Jacobsen Syndrome 48 0.035
334
VND001 Vein Disease 47 0.035
335
HYD002 Hydronephrosis 47 0.035
336
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 42 0.035
337
c EPD044 Epidermolysis Bullosa Dystrophica, Ar 36 0.035
338
c CRN173 Coronary Heart Disease 8 18 0.035
339
P NRV007 Nervous System Disease 71 0.033
340
EWN003 Ewing Sarcoma 66 0.033
341
GLC006 Galactosemia 64 0.033
342
P PRT013 Portal Hypertension 60 0.033
343
P MLT074 Multiple Endocrine Neoplasia 56 0.033
344
MLN007 Male Infertility 55 0.033
345
TST014 Testicular Cancer 53 0.033
346
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 53 0.033
347
ACT017 Acute Chest Syndrome 48 0.033
348
3MS007 3-M Syndrome 1 43 0.033
349
SKN027 Skin Conditions 43 0.033
350
EXT022 Exotropia 39 0.033
351
P PLT008 Pili Torti 25 0.033
352
BCK001 Becker Muscular Dystrophy 69 0.032
353
P ALC004 Alcohol Abuse 59 0.032
354
ARS001 Aarskog-Scott Syndrome 52 0.032
355
VSC006 Vascular Cancer 51 0.032
356
PPL021 Papilledema 47 0.032
357
CLF004 Cleft Lip/palate 46 0.032
358
ANV001 Anovulation 44 0.032
359
BRJ001 Borjeson-Forssman-Lehmann Syndrome 43 0.032
360
WTH001 Withdrawal Disorder 37 0.032
361
FCL011 Facial Nerve Disease 36 0.032
362
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.032
363
c MNT109 Mental Retardation, X-Linked, Syndromic 15 35 0.032
364
GGN002 Gigantism 32 0.032
365
GNC005 Geniculate Ganglionitis 27 0.032
366
ITR002 Iatrogenic or Traumatic Pituitary Deficiency 9 0.032
367
WLS001 Wilson Disease 72 0.030
368
c MLT136 Multiple Endocrine Neoplasia 1 69 0.030
369
P OST002 Osteoporosis 64 0.030
370
P PRD008 Periodontitis 63 0.030
371
CRB011 Cerebrotendinous Xanthomatosis 61 0.030
372
BLL006 Bullous Pemphigoid 59 0.030
373
LPD008 Lipid Metabolism Disorder 58 0.030
374
P EXN002 Exanthem 57 0.030
375
CHR029 Choroid Plexus Papilloma 55 0.030
376
MCK005 Mckusick-Kaufman Syndrome 52 0.030
377
GNG012 Gingival Overgrowth 52 0.030
378
BLR001 Biliary Atresia 52 0.030
379
P GRS003 Griscelli Syndrome 51 0.030
380
PMP001 Pemphigus 50 0.030
381
OPT003 Opiate Dependence 50 0.030
382
P OST028 Osteochondroma 47 0.030
383
MLK006 Milk Allergy 47 0.030
384
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 46 0.030
385
c TRC092 Trichorhinophalangeal Syndrome, Type I 46 0.030
386
c WRB002 Warburg Micro Syndrome 1 39 0.030
387
MNR003 Mineral Metabolism Disease 38 0.030
388
WLS004 Wilson-Turner Syndrome 38 0.030
389
FXF002 Fox-Fordyce Disease 36 0.030
390
ANR018 Anorchia 36 0.030
391
MYX004 Myxedema 35 0.030
392
CLC011 Cloacal Exstrophy 32 0.030
393
ORC001 Orchitis 31 0.030
394
c LPR012 Leopard Syndrome 1 30 0.030
395
DSR005 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 28 0.030
396
RFM001 Roifman Syndrome 26 0.030
397
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 25 0.030
398
HYP308 Hypertrichosis Terminalis, Generalized, with or Without Gingival Hyperplasia 24 0.030
399
c SNG011 Singleton-Merten Syndrome 1 18 0.030
400
c PLT022 Pili Torti, Early-Onset 17 0.030
401
INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 12 0.030
402
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 60 0.027
403
PLY023 Polycystic Liver Disease 56 0.027
404
FDL002 Food Allergy 53 0.027
405
NRF007 Neurofibroma 53 0.027
406
P PMP005 Pemphigus Vulgaris 51 0.027
407
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 50 0.027
408
PRT026 Parotitis 42 0.027
409
STT007 Steatocystoma Multiplex 42 0.027
410
P PRM018 Primary Hypertrophic Osteoarthropathy 42 0.027
411
PLX002 Plexiform Neurofibroma 41 0.027
412
WDH003 Woodhouse-Sakati Syndrome 41 0.027
413
c PRG106 Progressive Muscular Dystrophy 40 0.027
414
PRN049 Paraneoplastic Pemphigus 40 0.027
415
P TST026 Testicular Germ Cell Cancer 39 0.027
416
HRM002 Hermaphroditism 38 0.027
417
GRN022 Granulosa Cell Tumor of the Ovary 38 0.027
418
ADR026 Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 38 0.027
419
CMB021 Combined Pituitary Hormone Deficiency 37 0.027
420
c GLY016 Glycogen Storage Disease Ib 36 0.027
421
P XLN007 X-Linked Disease 34 0.027
422
SLT009 Solitary Bone Cyst 33 0.027
423
c CRD187 Cardiomyopathy, Dilated, 3b 33 0.027
424
CRV069 Cervix Disease 32 0.027
425
P ATX010 Ataxia Neuropathy Spectrum 30 0.027
426
c CNG379 Congenital Disorder of Glycosylation, Type It 28 0.027
427
c SCH059 Schizophrenia 17 26 0.027
428
c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25 0.027
429
46X004 46,xy Disorder of Sex Development and 46,xy Complete Gonadal Dysgenesis 24 0.027
430
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 24 0.027
431
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 24 0.027
432
MSC012 Muscular Dystrophy, Duchenne and Becker Type 22 0.027
433
c OVR107 Ovarian Dysgenesis 4 22 0.027
434
HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 22 0.027
435
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 21 0.027
436
c GLY017 Glycogen Storage Disease Ic 21 0.027
437
c GLY043 Glycogen Storage Disease Xii 21 0.027
438
c TRC093 Trichorhinophalangeal Syndrome, Type Iii 21 0.027
439
SKT001 Sakati Syndrome 20 0.027
440
HYP610 Hypothyroidism, Central, and Testicular Enlargement 20 0.027
441
P CTS012 Cutis Verticis Gyrata 19 0.027
442
CNG101 Congenital Human Immunodeficiency Virus 19 0.027
443
VSC009 Vascular Skin Disease 19 0.027
444
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 18 0.027
445
PRG023 Progeroid Short Stature with Pigmented Nevi 16 0.027
446
FRL002 Froelich Syndrome 16 0.027
447
ACR044 Acroosteolysis Dominant Type 16 0.027
448
46X011 46, Xy Disorders of Sexual Development 15 0.027
449
ATR076 Atrophic Muscular Disease 15 0.027
450
HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 15 0.027
451
INS010 Insulin-Resistant Acanthosis Nigricans, Type a 15 0.027
452
PLY115 Polyendocrine-Polyneuropathy Syndrome 14 0.027
453
c WLF010 Wolfram Syndrome-Like Disease 13 0.027
454
c KLL008 Kallmann Syndrome 6 13 0.027
455
CHL124 Childhood Ovarian Cancer 12 0.027
456
THM022 Thumb Agenesis, Short Stature, and Immunodeficiency 9 0.027