| # |
Family |
MCID |
Name |
MIFTS |
| 1 |
P
|
PHC003 |
Pheochromocytoma |
71 |
| 2 |
|
PNC120 |
Pancreas, Dorsal, Agenesis of |
28 |
| 3 |
c
|
PGM021 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
31 |
| 4 |
|
PNC048 |
Pancreatic Lipase Deficiency |
29 |
| 5 |
c
|
PGM011 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
27 |
| 6 |
|
SLV025 |
Salivary Gland Adenoma, Pleomorphic |
37 |
| 7 |
|
LCR011 |
Lacrimal Gland Carcinoma |
26 |
| 8 |
|
SWT002 |
Sweat Gland Cancer |
40 |
| 9 |
|
TRP008 |
Tropical Calcific Pancreatitis |
46 |
| 10 |
|
ISL123 |
Isolated Growth Hormone Deficiency, Type Iv |
26 |
| 11 |
c
|
THY114 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
31 |
| 12 |
c
|
PGM022 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
25 |
| 13 |
|
SWT008 |
Sweat Gland Benign Neoplasm |
32 |
| 14 |
|
3BT001 |
3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
30 |
| 15 |
|
OST141 |
Osteoclastic Giant Cell Tumor of Pancreas |
15 |
| 16 |
|
PRR005 |
Paraurethral Gland Cancer |
10 |
| 17 |
|
MTR082 |
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction |
41 |
| 18 |
|
SLV003 |
Salivary Gland Disease |
41 |
| 19 |
c
|
PGM012 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
17 |
| 20 |
c
|
PNC106 |
Pancreatic Agenesis 1 |
51 |
| 21 |
|
ANH004 |
Anhidrosis, Isolated, with Normal Sweat Glands |
40 |
| 22 |
c
|
PRM093 |
Premature Ovarian Failure 7 |
47 |
| 23 |
c
|
PRM094 |
Premature Ovarian Failure 5 |
24 |
| 24 |
c
|
PRM091 |
Premature Ovarian Failure 2b |
24 |
| 25 |
c
|
PRM207 |
Premature Ovarian Failure 10 |
24 |
| 26 |
c
|
PRM090 |
Premature Ovarian Failure 6 |
24 |
| 27 |
c
|
PRM089 |
Premature Ovarian Failure 3 |
23 |
| 28 |
c
|
PRM254 |
Premature Ovarian Failure 11 |
23 |
| 29 |
c
|
PRM192 |
Premature Ovarian Failure 8 |
22 |
| 30 |
|
ISL124 |
Isolated Growth Hormone Deficiency, Type V |
22 |
| 31 |
c
|
PRM295 |
Premature Ovarian Failure 15 |
20 |
| 32 |
c
|
PRM253 |
Premature Ovarian Failure 13 |
20 |
| 33 |
c
|
PRM344 |
Premature Ovarian Failure 16 |
20 |
| 34 |
c
|
PRM191 |
Premature Ovarian Failure 9 |
19 |
| 35 |
c
|
PRM292 |
Premature Ovarian Failure 14 |
19 |
| 36 |
c
|
PRM255 |
Premature Ovarian Failure 12 |
18 |
| 37 |
P
|
PRM176 |
Premature Ovarian Failure 2a |
18 |
| 38 |
|
NNC012 |
Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency |
17 |
| 39 |
c
|
ACQ064 |
Acquired Premature Ovarian Failure |
7 |
| 40 |
|
APL002 |
Aplasia of Lacrimal and Salivary Glands |
57 |
| 41 |
|
BRT016 |
Bartholin's Gland Carcinoma |
24 |
| 42 |
c
|
PNC105 |
Pancreatic Agenesis 2 |
18 |
| 43 |
P
|
LYD011 |
Leydig Cell Hypoplasia |
34 |
| 44 |
|
MXD003 |
Mixed Lacrimal Gland Cancer |
30 |
| 45 |
|
SBM004 |
Submandibular Gland Cancer |
29 |
| 46 |
|
BRT045 |
Bartholin's Gland Benign Neoplasm |
26 |
| 47 |
P
|
GNR008 |
Generalized Resistance to Thyroid Hormone |
25 |
| 48 |
|
SBC017 |
Sebaceous Gland Disease |
40 |
| 49 |
|
HDR004 |
Hidradenoma |
37 |
| 50 |
c
|
ACR119 |
Acrodysostosis 2 with or Without Hormone Resistance |
28 |
| 51 |
|
EXC004 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis |
25 |
| 52 |
c
|
PTT058 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
24 |
| 53 |
|
PTT043 |
Pituitary Hormone Deficiency, Combined, 6 |
21 |
| 54 |
|
SLL001 |
Sialolithiasis |
35 |
| 55 |
P
|
THY061 |
Thyroid Dyshormonogenesis 2a |
29 |
| 56 |
|
XLN182 |
X-Linked Cerebral Adrenoleukodystrophy |
13 |
| 57 |
|
SBL001 |
Sublingual Gland Cancer |
9 |
| 58 |
|
LCR007 |
Lacrimal Gland Squamous Cell Carcinoma |
8 |
| 59 |
|
ATM078 |
Autoimmune Addison Disease |
29 |
| 60 |
|
MCC003 |
Mucocele of Salivary Gland |
28 |
| 61 |
|
SLD011 |
Solid Pseudopapillary Carcinoma of Pancreas |
27 |
| 62 |
c
|
ATM064 |
Autoimmune Pancreatitis Type 1 |
24 |
| 63 |
|
CNG298 |
Congenital Pancreatic Cyst |
19 |
| 64 |
|
MLG051 |
Malignant Glandular Tumor of Peripheral Nerve Sheath |
18 |
| 65 |
|
SXH002 |
Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus |
9 |
| 66 |
|
BRN010 |
Bronchial Mucus Gland Adenoma |
6 |
| 67 |
|
PRR003 |
Paraurethral Gland Neoplasm |
6 |
| 68 |
|
ULN003 |
Ulnar-Mammary Syndrome |
57 |
| 69 |
|
PLM014 |
Pleomorphic Adenoma |
52 |
| 70 |
|
SLD003 |
Sialadenitis |
49 |
| 71 |
|
ADR022 |
Adrenomyeloneuropathy |
38 |
| 72 |
P
|
ACR110 |
Acrodysostosis 1 with or Without Hormone Resistance |
34 |
| 73 |
|
SWT003 |
Sweat Gland Disease |
34 |
| 74 |
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
31 |
| 75 |
|
HLP031 |
Holoprosencephaly 12 with or Without Pancreatic Agenesis |
21 |
| 76 |
|
ACC005 |
Accessory Pancreas |
19 |
| 77 |
P
|
PNB001 |
Pineoblastoma |
50 |
| 78 |
|
GLN006 |
Glandular Cystitis |
30 |
| 79 |
|
BRT012 |
Bartholin's Gland Adenoma |
23 |
| 80 |
|
BRT008 |
Bartholin's Gland Adenoid Cystic Carcinoma |
22 |
| 81 |
|
PRT100 |
Parotid Gland Adenoid Cystic Carcinoma |
21 |
| 82 |
|
BRT014 |
Bartholin's Duct Cyst |
21 |
| 83 |
c
|
ADL025 |
Adult Pineoblastoma |
20 |
| 84 |
|
VGN021 |
Vaginal Glandular Tumor |
18 |
| 85 |
|
BRT060 |
Bartholin's Gland Disease |
16 |
| 86 |
|
THY118 |
Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 |
9 |
| 87 |
|
BRT010 |
Bartholin's Gland Transitional Cell Carcinoma |
7 |
| 88 |
|
MNR001 |
Minor Vestibular Glands Adenoma |
7 |
| 89 |
|
GLN004 |
Glandular Pattern Ovarian Yolk Sac Tumor |
6 |
| 90 |
|
BRT009 |
Bartholin's Gland Adenomyoma |
6 |
| 91 |
|
VLV037 |
Vulvar Glandular Tumor |
5 |
| 92 |
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
| 93 |
|
HLX001 |
Helix Syndrome |
47 |
| 94 |
|
GRW007 |
Growth Hormone Deficiency |
46 |
| 95 |
|
PNC056 |
Pineocytoma |
45 |
| 96 |
c
|
PRG020 |
Paragangliomas 3 |
39 |
| 97 |
|
ALD013 |
Aldosterone-Producing Adenoma |
39 |
| 98 |
c
|
PRG021 |
Paragangliomas 4 |
37 |
| 99 |
c
|
SCN052 |
Secondary Adrenal Insufficiency |
36 |
| 100 |
|
RRC013 |
Rare Carcinoma of Pancreas |
31 |
| 101 |
c
|
PRG019 |
Paragangliomas 2 |
31 |
| 102 |
|
ADR001 |
Adrenal Rest Tumor |
30 |
| 103 |
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
30 |
| 104 |
c
|
NNS018 |
Nonsyndromic Paraganglioma |
29 |
| 105 |
c
|
PRG094 |
Paragangliomas 5 |
28 |
| 106 |
|
THY026 |
Thymus Gland Disease |
28 |
| 107 |
c
|
THY063 |
Thyroid Dyshormonogenesis 4 |
26 |
| 108 |
|
SBM003 |
Submandibular Gland Disease |
24 |
| 109 |
|
APC009 |
Apocrine Gland Secretion, Variation in |
24 |
| 110 |
c
|
THY110 |
Thyroid Dyshormonogenesis 6 |
24 |
| 111 |
c
|
SPP012 |
Suppressor of Tumorigenicity 11 |
22 |
| 112 |
|
MCN022 |
Mucinous Cystadenocarcinoma of the Pancreas |
21 |
| 113 |
c
|
THY062 |
Thyroid Dyshormonogenesis 5 |
21 |
| 114 |
c
|
PRG137 |
Paragangliomas 6 |
21 |
| 115 |
|
HYP705 |
Hyperadrenalism |
20 |
| 116 |
|
ADN072 |
Adenoma of Pancreas |
20 |
| 117 |
|
PRL002 |
Prolapse of Lacrimal Gland |
18 |
| 118 |
c
|
PRG138 |
Paragangliomas 7 |
18 |
| 119 |
c
|
ATM063 |
Autoimmune Pancreatitis Type 2 |
17 |
| 120 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
17 |
| 121 |
|
SQM014 |
Squamous Cell Carcinoma of Pancreas |
14 |
| 122 |
|
HYP746 |
Hypersecretion of Adrenal Androgens, Familial |
12 |
| 123 |
|
THY053 |
Thyroid Hormone Plasma Membrane Transport Defect |
11 |
| 124 |
|
PRP074 |
Peripheral Resistance to Thyroid Hormones |
11 |
| 125 |
|
DWR020 |
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
10 |
| 126 |
|
STS005 |
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas |
9 |
| 127 |
|
FLL045 |
Follicular Cholangitis and Pancreatitis |
8 |
| 128 |
|
ANL002 |
Anal Gland Neoplasm |
7 |
| 129 |
|
CHR002 |
Chronic Lacrimal Gland Enlargement |
5 |
| 130 |
|
PNC054 |
Pancreatic Lipomatosis Duodenal Stenosis |
4 |
| 131 |
|
ADN030 |
Adnexal Spiradenoma/cylindroma of a Sweat Gland |
2 |
| 132 |
P
|
MMP001 |
Mumps |
58 |
| 133 |
|
CLS040 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency |
38 |
| 134 |
|
MBM001 |
Meibomian Cyst |
35 |
| 135 |
|
GLN002 |
Glanders |
35 |
| 136 |
c
|
PTT060 |
Pituitary Adenoma 5, Multiple Types |
24 |
| 137 |
c
|
CNG110 |
Congenital Mumps |
7 |
| 138 |
P
|
NTR004 |
Neutropenia |
63 |
| 139 |
|
ADN018 |
Adenoma |
59 |
| 140 |
c
|
SVR003 |
Severe Congenital Neutropenia |
59 |
| 141 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
| 142 |
|
MKL001 |
Mikulicz Disease |
46 |
| 143 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
36 |
| 144 |
P
|
HYP120 |
Hypoaldosteronism |
36 |
| 145 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
| 146 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
35 |
| 147 |
|
LMB008 |
Limb-Mammary Syndrome |
35 |
| 148 |
|
CYT014 |
Cytochrome P450 Oxidoreductase Deficiency |
32 |
| 149 |
c
|
SVR012 |
Severe Congenital Neutropenia Autosomal Dominant |
28 |
| 150 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
28 |
| 151 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
26 |
| 152 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
| 153 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
25 |
| 154 |
|
CHL075 |
Cheilitis Glandularis |
25 |
| 155 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
| 156 |
|
PPL017 |
Papillary Hidradenoma |
21 |
| 157 |
c
|
FML275 |
Familial Hypoaldosteronism |
19 |
| 158 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
19 |
| 159 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
| 160 |
|
GLN001 |
Glandular Tularemia |
17 |
| 161 |
|
PNC049 |
Pancreatic Adenoma |
17 |
| 162 |
|
PRT122 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease of |
14 |
| 163 |
c
|
ACQ053 |
Acquired Neutropenia |
14 |
| 164 |
c
|
ELN001 |
Elane-Related Neutropenia |
14 |
| 165 |
|
SBC022 |
Sebaceous Gland Hyperplasia, Familial Presenile |
12 |
| 166 |
c
|
ERL059 |
Early-Onset Familial Hypoaldosteronism |
12 |
| 167 |
c
|
LTN026 |
Late-Onset Familial Hypoaldosteronism |
11 |
| 168 |
|
PNC055 |
Pancreatitis, Pediatric |
11 |
| 169 |
c
|
SLV006 |
Salivary Gland Cancer, Adult |
9 |
| 170 |
|
CWP002 |
Cowper Gland Carcinoma |
8 |
| 171 |
|
SBL007 |
Sublingual Gland Adenoid Cystic Carcinoma |
5 |
| 172 |
c
|
RRH005 |
Rare Hypoaldosteronism |
5 |
| 173 |
P
|
DBT100 |
Diabetes Mellitus, Permanent Neonatal 1 |
59 |
| 174 |
|
MST005 |
Mastitis |
53 |
| 175 |
P
|
PRG013 |
Paraganglioma |
52 |
| 176 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
46 |
| 177 |
c
|
DBT103 |
Diabetes Mellitus, Permanent Neonatal 4 |
46 |
| 178 |
|
VSD002 |
Vas Deferens, Congenital Bilateral Aplasia of |
45 |
| 179 |
|
PPL001 |
Papillary Adenoma |
44 |
| 180 |
|
SBC009 |
Sebaceous Adenoma |
35 |
| 181 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
35 |
| 182 |
|
GGN002 |
Gigantism |
33 |
| 183 |
|
ADN014 |
Adenomatoid Tumor |
33 |
| 184 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
31 |
| 185 |
|
ATM061 |
Autoimmune Polyglandular Syndrome Type 3 |
28 |
| 186 |
|
FXF002 |
Fox-Fordyce Disease |
27 |
| 187 |
|
ISL004 |
Isolated Gonadotropin-Releasing Hormone Deficiency |
26 |
| 188 |
c
|
PTT061 |
Pituitary Adenoma 3, Multiple Types |
23 |
| 189 |
c
|
PRS050 |
Prss1-Related Hereditary Pancreatitis |
21 |
| 190 |
|
PLY153 |
Polyposis of Gastric Fundus Without Polyposis Coli |
20 |
| 191 |
|
PHC017 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
18 |
| 192 |
c
|
DBT101 |
Diabetes Mellitus, Permanent Neonatal 2 |
17 |
| 193 |
|
PNC050 |
Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus |
17 |
| 194 |
|
TRY003 |
Trypsinogen Deficiency |
17 |
| 195 |
|
GLC107 |
Glucocorticoid Deficiency 5 |
17 |
| 196 |
|
NR0002 |
Nr0b1-Related Adrenal Hypoplasia Congenita |
15 |
| 197 |
c
|
DBT102 |
Diabetes Mellitus, Permanent Neonatal 3 |
14 |
| 198 |
|
PNL001 |
Pineal Gland Astrocytoma |
14 |
| 199 |
|
PNC124 |
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex |
14 |
| 200 |
|
IGG012 |
Igg4-Related Submandibular Gland Disease |
14 |
| 201 |
|
URT019 |
Urethral Gland Abscess |
12 |
| 202 |
c
|
THY119 |
Thyrotoxic Periodic Paralysis 3 |
12 |
| 203 |
|
ECT097 |
Ectodermal Dysplasia with Adrenal Cyst |
11 |
| 204 |
|
HYP785 |
Hypohidrosis with Abnormal Palmar Dermal Ridges |
11 |
| 205 |
|
ADR055 |
Adrenocortical Unresponsiveness to Acth with Postreceptor Defect |
10 |
| 206 |
|
PNC022 |
Pancreatic Intraductal Papillary-Mucinous Adenoma |
10 |
| 207 |
|
ANH005 |
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands |
10 |
| 208 |
c
|
ADR053 |
Adrenal Hypoplasia, Cytomegalic Type |
10 |
| 209 |
|
ADR050 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
10 |
| 210 |
|
PRP035 |
Prop1-Related Combined Pituitary Hormone Deficiency |
9 |
| 211 |
|
PNC130 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
9 |
| 212 |
|
FNC012 |
Functioning Pancreatic Endocrine Tumor |
9 |
| 213 |
|
MLG134 |
Malignant Epithelial Tumor of Salivary Glands |
7 |
| 214 |
|
PLT032 |
Platelet Responsiveness to Adrenaline, Depressed |
7 |
| 215 |
|
PNC125 |
Pancreatic Lymphoma, Familial |
5 |
| 216 |
c
|
RRM012 |
Rare Male Infertility Due to Adrenal Disorder |
5 |
| 217 |
|
GNT073 |
Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen |
5 |
| 218 |
|
BLN023 |
Bile and Pancreatic Ducts, Complete Absence of |
4 |
| 219 |
|
TMR021 |
Tumor of Endocrine Glands |
4 |
| 220 |
|
GNT052 |
Genetic Pancreatic Disease |
2 |
| 221 |
|
GNT093 |
Genetic Sebaceous Gland Anomaly |
2 |
| 222 |
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
| 223 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
| 224 |
P
|
HLP001 |
Holoprosencephaly |
67 |
| 225 |
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
65 |
| 226 |
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
62 |
| 227 |
P
|
KLL001 |
Kallmann Syndrome |
61 |
| 228 |
|
DBT087 |
Diabetes Insipidus, Neurohypophyseal |
58 |
| 229 |
|
CHR072 |
Chordoma |
58 |
| 230 |
P
|
ACT010 |
Acth-Secreting Pituitary Adenoma |
55 |
| 231 |
P
|
HYP076 |
Hyperthyroidism |
55 |
| 232 |
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
55 |
| 233 |
c
|
MTR020 |
Maturity-Onset Diabetes of the Young, Type 3 |
55 |
| 234 |
P
|
STS003 |
Sitosterolemia |
54 |
| 235 |
c
|
HLP023 |
Holoprosencephaly 1 |
53 |
| 236 |
|
GTR002 |
Goiter |
53 |
| 237 |
P
|
THY032 |
Thyroiditis |
52 |
| 238 |
P
|
OVR049 |
Ovarian Disease |
52 |
| 239 |
c
|
PTT057 |
Pituitary Adenoma 4, Acth-Secreting |
51 |
| 240 |
|
THM002 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
51 |
| 241 |
c
|
HLP025 |
Holoprosencephaly 9 |
50 |
| 242 |
|
HYP080 |
Hypogonadism |
50 |
| 243 |
c
|
HLP024 |
Holoprosencephaly 2 |
49 |
| 244 |
|
GYN001 |
Gynecomastia |
49 |
| 245 |
c
|
NNN010 |
Noonan Syndrome 3 |
49 |
| 246 |
c
|
46X049 |
46,xy Sex Reversal 2 |
49 |
| 247 |
|
HYP043 |
Hyperandrogenism |
48 |
| 248 |
c
|
HLP026 |
Holoprosencephaly 3 |
48 |
| 249 |
|
THY128 |
Thyroid Tumor |
47 |
| 250 |
|
NDL007 |
Nodular Goiter |
47 |
| 251 |
c
|
HLP016 |
Holoprosencephaly 11 |
47 |
| 252 |
c
|
NNN013 |
Noonan Syndrome 6 |
45 |
| 253 |
c
|
HLP028 |
Holoprosencephaly 5 |
45 |
| 254 |
P
|
END084 |
Endocrine System Disease |
45 |
| 255 |
c
|
STS010 |
Sitosterolemia 1 |
44 |
| 256 |
c
|
HLP029 |
Holoprosencephaly 4 |
44 |
| 257 |
|
DWR001 |
Dwarfism |
44 |
| 258 |
c
|
MTR021 |
Maturity-Onset Diabetes of the Young, Type 4 |
44 |
| 259 |
|
OHD005 |
Ohdo Syndrome, Sbbys Variant |
44 |
| 260 |
c
|
NNN011 |
Noonan Syndrome 4 |
44 |
| 261 |
|
HYP791 |
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate |
43 |
| 262 |
|
MYX004 |
Myxedema |
43 |
| 263 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
43 |
| 264 |
P
|
HRD018 |
Hair Disease |
43 |
| 265 |
P
|
MLT008 |
Multinodular Goiter |
42 |
| 266 |
c
|
NNN021 |
Noonan Syndrome 8 |
41 |
| 267 |
c
|
MTR024 |
Maturity-Onset Diabetes of the Young, Type 7 |
41 |
| 268 |
c
|
46X002 |
46 Xx Gonadal Dysgenesis |
41 |
| 269 |
c
|
MTR023 |
Maturity-Onset Diabetes of the Young, Type 6 |
40 |
| 270 |
c
|
HLP027 |
Holoprosencephaly 7 |
40 |
| 271 |
|
DSR012 |
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency |
40 |
| 272 |
c
|
MTR075 |
Maturity-Onset Diabetes of the Young, Type 13 |
40 |
| 273 |
c
|
MTR044 |
Maturity-Onset Diabetes of the Young, Type 10 |
39 |
| 274 |
|
PTT003 |
Pituitary-Dependent Cushing's Disease |
39 |
| 275 |
c
|
NNN009 |
Noonan Syndrome 2 |
39 |
| 276 |
c
|
HYP562 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
39 |
| 277 |
|
DBT020 |
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans |
39 |
| 278 |
|
ETH004 |
Euthyroid Sick Syndrome |
38 |
| 279 |
c
|
NNN012 |
Noonan Syndrome 5 |
37 |
| 280 |
c
|
MTR039 |
Maturity-Onset Diabetes of the Young, Type 11 |
37 |
| 281 |
|
HRM002 |
Hermaphroditism |
36 |
| 282 |
c
|
NNN020 |
Noonan Syndrome 7 |
36 |
| 283 |
|
HYP070 |
Hyperpituitarism |
36 |
| 284 |
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
36 |
| 285 |
|
PLM011 |
Plummer's Disease |
35 |
| 286 |
c
|
CNT101 |
Central Congenital Hypothyroidism |
35 |
| 287 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
35 |
| 288 |
|
ADN064 |
Adenohypophysitis |
35 |
| 289 |
|
MLR009 |
Miliaria |
34 |
| 290 |
|
FML168 |
Familial Isolated Pituitary Adenoma |
33 |
| 291 |
|
NNT003 |
Neonatal Thyrotoxicosis |
33 |
| 292 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
| 293 |
c
|
VNT027 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
33 |
| 294 |
|
NNT010 |
Nontoxic Goiter |
32 |
| 295 |
c
|
MTR074 |
Maturity-Onset Diabetes of the Young, Type 14 |
32 |
| 296 |
c
|
NNN025 |
Noonan Syndrome 10 |
32 |
| 297 |
P
|
PLY188 |
Polyendocrinopathy |
32 |
| 298 |
|
PST014 |
Postsurgical Hypothyroidism |
32 |
| 299 |
|
THY001 |
Thyroid Crisis |
31 |
| 300 |
|
PTT010 |
Pituitary Infarct |
31 |
| 301 |
|
HYP029 |
Hyperthyroxinemia |
31 |
| 302 |
c
|
HYP523 |
Hypogonadotropic Hypogonadism 14 with or Without Anosmia |
30 |
| 303 |
c
|
STS011 |
Sitosterolemia 2 |
30 |
| 304 |
c
|
HYP565 |
Hypogonadotropic Hypogonadism 3 with or Without Anosmia |
29 |
| 305 |
c
|
HYP522 |
Hypogonadotropic Hypogonadism 11 with or Without Anosmia |
28 |
| 306 |
|
PTT016 |
Patterson Pseudoleprechaunism Syndrome |
28 |
| 307 |
c
|
ACT053 |
Acute Thyroiditis |
27 |
| 308 |
|
PRM315 |
Permanent Congenital Hypothyroidism |
27 |
| 309 |
c
|
HYP531 |
Hypogonadotropic Hypogonadism 4 with or Without Anosmia |
27 |
| 310 |
|
SBS002 |
Substernal Goiter |
27 |
| 311 |
c
|
46X048 |
46,xx Sex Reversal 2 |
27 |
| 312 |
c
|
HYP521 |
Hypogonadotropic Hypogonadism 10 with or Without Anosmia |
26 |
| 313 |
c
|
HYP538 |
Hypogonadotropic Hypogonadism 17 with or Without Anosmia |
26 |
| 314 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
26 |
| 315 |
|
IDN001 |
Iodine Hypothyroidism |
26 |
| 316 |
c
|
HYP817 |
Hypogonadotropic Hypogonadism 21 with or Without Anosmia |
25 |
| 317 |
|
GGN004 |
Gigantomastia |
25 |
| 318 |
c
|
HYP443 |
Hypogonadotropic Hypogonadism 13 with or Without Anosmia |
25 |
| 319 |
|
ENC002 |
Eunuchism |
25 |
| 320 |
c
|
ATM014 |
Autoimmune Disease of Endocrine System |
25 |
| 321 |
|
GNT043 |
Genitopalatocardiac Syndrome |
25 |
| 322 |
c
|
HYP546 |
Hypogonadotropic Hypogonadism 20 with or Without Anosmia |
25 |
| 323 |
|
PNH005 |
Panhypopituitarism, X-Linked |
25 |
| 324 |
c
|
HYP444 |
Hypogonadotropic Hypogonadism 9 with or Without Anosmia |
24 |
| 325 |
c
|
NNN034 |
Noonan Syndrome 12 |
24 |
| 326 |
c
|
NNN029 |
Noonan Syndrome 11 |
24 |
| 327 |
c
|
46X058 |
46,xy Sex Reversal 10 |
24 |
| 328 |
|
TXC004 |
Toxic Diffuse Goiter |
24 |
| 329 |
c
|
46X056 |
46,xy Sex Reversal 5 |
23 |
| 330 |
|
CHR620 |
Chromosome 16p11.2 Deletion Syndrome, 220-Kb |
23 |
| 331 |
|
FRM001 |
Freemartinism |
22 |
| 332 |
|
SPP005 |
Suppurative Thyroiditis |
22 |
| 333 |
c
|
BRS108 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 |
22 |
| 334 |
c
|
46X059 |
46,xx Sex Reversal 4 |
22 |
| 335 |
|
LNG018 |
Lingual Goiter |
22 |
| 336 |
c
|
HLP022 |
Holoprosencephaly 8 |
22 |
| 337 |
|
MDL001 |
Medulloadrenal Hyperfunction |
22 |
| 338 |
c
|
ATM066 |
Autoimmune Polyendocrinopathy Type 4 |
22 |
| 339 |
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
21 |
| 340 |
c
|
HYP857 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
21 |
| 341 |
c
|
OVR119 |
Ovarian Dysgenesis 7 |
21 |
| 342 |
c
|
HLP021 |
Holoprosencephaly 6 |
21 |
| 343 |
|
THY021 |
Thyroid Malformation |
21 |
| 344 |
|
DYS008 |
Dyshormonogenic Goiter |
21 |
| 345 |
|
ECT094 |
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type |
21 |
| 346 |
|
ATY007 |
Atypical Follicular Adenoma |
20 |
| 347 |
|
PNH004 |
Panhypophysitis |
20 |
| 348 |
|
BNG086 |
Bangstad Syndrome |
20 |
| 349 |
|
PRP107 |
Peripheral Hypothyroidism |
19 |
| 350 |
P
|
BRS100 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 |
18 |
| 351 |
|
PRM331 |
Primary Hypophysitis |
18 |
| 352 |
c
|
46X060 |
46,xx Disorder of Sex Development |
18 |
| 353 |
|
PRM187 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
18 |
| 354 |
c
|
HRN019 |
Hair-an Syndrome |
17 |
| 355 |
|
ABN002 |
Abnormality of Glucagon Secretion |
17 |
| 356 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
16 |
| 357 |
|
RDL003 |
Riedel's Fibrosing Thyroiditis |
15 |
| 358 |
|
PRT021 |
Parathyroid Transitional Clear Cell Adenoma |
14 |
| 359 |
|
INH007 |
Inherited Thyroxine-Binding Globulin Deficiency |
14 |
| 360 |
c
|
GTR013 |
Goiter, Multinodular 2 |
14 |
| 361 |
|
HYP490 |
Hyperinsulinism Due to Hnf1a Deficiency |
14 |
| 362 |
|
GNT041 |
Genetic Lipodystrophy |
13 |
| 363 |
c
|
KLL005 |
Kallmann Syndrome 3 |
13 |
| 364 |
|
BMF002 |
Bamforth Syndrome |
13 |
| 365 |
|
46X015 |
46,xy Ovotesticular Disorder of Sex Development |
12 |
| 366 |
c
|
GTR014 |
Goiter, Multinodular 3 |
12 |
| 367 |
|
HRD017 |
Hordeolum Externum |
11 |
| 368 |
c
|
PRD022 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 |
11 |
| 369 |
c
|
RRH008 |
Rare Hyperthyroidism |
11 |
| 370 |
|
IDP061 |
Idiopathic Congenital Hypothyroidism |
10 |
| 371 |
|
NLL003 |
Null Pituitary Adenoma |
10 |
| 372 |
|
INT222 |
Intermediate Dend Syndrome |
10 |
| 373 |
|
PRM330 |
Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly |
10 |
| 374 |
|
ISL139 |
Isolated Congenital Hypogonadotropic Hypogonadism |
10 |
| 375 |
c
|
SCN039 |
Secondary Central Precocious Puberty |
10 |
| 376 |
|
SHR095 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
8 |
| 377 |
c
|
KLL008 |
Kallmann Syndrome 6 |
8 |
| 378 |
|
MLT106 |
Multiple Paragangliomas Associated with Polycythemia |
8 |
| 379 |
c
|
KLL006 |
Kallmann Syndrome 4 |
8 |
| 380 |
|
IDN004 |
Iodine Antenatal Exposure |
8 |
| 381 |
c
|
SCN062 |
Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion |
7 |
| 382 |
c
|
KLL007 |
Kallmann Syndrome 5 |
7 |
| 383 |
|
PST024 |
Post-Surgical Hypoinsulinemia |
6 |
| 384 |
|
DZX006 |
Diazoxide-Resistant Focal Hyperinsulinism |
6 |
| 385 |
c
|
TRN075 |
Transient Congenital Hypothyroidism Due to Maternal Factor |
5 |
| 386 |
c
|
TRN076 |
Transient Congenital Hypothyroidism Due to Neonatal Factor |
5 |
| 387 |
c
|
OVR071 |
Ovarian Insufficiency, Familial |
5 |
| 388 |
|
NNC016 |
Non-Acquired Premature Ovarian Failure |
5 |
| 389 |
|
THY002 |
Thyrocalcitonin Secretion Disease |
4 |
| 390 |
|
DZX003 |
Diazoxide-Resistant Diffuse Hyperinsulinism |
4 |
| 391 |
|
CNG594 |
Congenital Thyroid Malformation Without Hypothyroidism |
4 |
| 392 |
|
46X064 |
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
3 |
| 393 |
|
MLT176 |
Multiple Polyglandular Tumor |
3 |
| 394 |
|
PNL014 |
Pineal Gland Cancer |
41 |
| 395 |
|
PRT009 |
Parotid Gland Cancer |
36 |
| 396 |
|
ANL012 |
Anal Gland Adenocarcinoma |
23 |
| 397 |
|
BRT015 |
Bartholin's Gland Adenocarcinoma |
18 |
| 398 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
| 399 |
P
|
SLV026 |
Salivary Gland Carcinoma |
57 |
| 400 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
| 401 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
| 402 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
| 403 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
47 |
| 404 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
| 405 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
| 406 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
41 |
| 407 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
27 |
| 408 |
c
|
MCK028 |
Meckel Syndrome 13 |
25 |
| 409 |
c
|
MCK026 |
Meckel Syndrome 12 |
24 |
| 410 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
23 |
| 411 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
22 |
| 412 |
|
APC004 |
Apocrine Adenocarcinoma |
40 |
| 413 |
|
MTC096 |
Mitchell-Riley Syndrome |
31 |
| 414 |
|
SPH021 |
Sphingosine Phosphate Lyase Insufficiency Syndrome |
13 |
| 415 |
c
|
PNC111 |
Pancreatic Cancer 2 |
30 |
| 416 |
c
|
PNC094 |
Pancreatic Cancer 1 |
28 |
| 417 |
|
ACN026 |
Acinar Cell Carcinoma of Pancreas |
28 |
| 418 |
c
|
PNC103 |
Pancreatic Cancer 4 |
28 |
| 419 |
c
|
PNC095 |
Pancreatic Cancer 3 |
28 |
| 420 |
|
SBC011 |
Sebaceous Adenocarcinoma |
42 |
| 421 |
|
ADN011 |
Adenoid Cystic Carcinoma |
70 |
| 422 |
c
|
PNC132 |
Pancreatic Cancer 5 |
22 |
| 423 |
c
|
RNL092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
33 |
| 424 |
|
INT338 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency |
25 |
| 425 |
|
LCR009 |
Lacrimal Gland Adenocarcinoma |
22 |
| 426 |
|
MRT009 |
Martinez-Frias Syndrome |
22 |
| 427 |
|
BRT007 |
Bartholin's Gland Squamous Cell Carcinoma |
9 |
| 428 |
|
BRT003 |
Bartholin's Gland Small Cell Carcinoma |
7 |
| 429 |
|
BRT006 |
Bartholin's Gland Adenosquamous Carcinoma |
6 |
| 430 |
|
GST051 |
Gastrointestinal Tuberculosis |
38 |
| 431 |
P
|
RNL059 |
Renal-Hepatic-Pancreatic Dysplasia |
35 |
| 432 |
|
SBC018 |
Sebaceous Gland Neoplasm |
32 |
| 433 |
|
LCR006 |
Lacrimal Gland Adenoid Cystic Carcinoma |
29 |
| 434 |
|
LCR002 |
Lacrimal Gland Mucoepidermoid Carcinoma |
17 |
| 435 |
|
RRT002 |
Rare Tumor of Pancreas |
17 |
| 436 |
|
TNG006 |
Tunglang Savage Bellman Syndrome |
13 |
| 437 |
|
SLV014 |
Salivary Gland Type Cancer of the Breast |
8 |
| 438 |
|
CRC037 |
Carcinoma of Esophagus, Salivary Gland Type |
7 |
| 439 |
|
RRP011 |
Rare Epithelial Tumor of Pancreas |
6 |
| 440 |
|
GLN005 |
Glandular-Alveolar Pattern Testicular Yolk Sac Tumor |
5 |
| 441 |
c
|
RNL095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
26 |
| 442 |
c
|
DBT091 |
Diabetes Insipidus, Nephrogenic, Autosomal |
66 |
| 443 |
c
|
THY102 |
Thyroid Cancer, Nonmedullary, 2 |
58 |
| 444 |
|
ECC002 |
Eccrine Acrospiroma |
36 |
| 445 |
|
STR088 |
Stratton-Parker Syndrome |
23 |
| 446 |
|
VST005 |
Vestibular Gland Benign Neoplasm |
20 |
| 447 |
P
|
HRD221 |
Hereditary Nephrogenic Diabetes Insipidus |
17 |
| 448 |
|
LTT003 |
Littre Gland Carcinoma |
5 |
| 449 |
P
|
MLN007 |
Male Infertility |
55 |
| 450 |
|
CYS014 |
Cystadenocarcinoma |
51 |
| 451 |
|
MCP006 |
Mucoepidermoid Carcinoma |
50 |
| 452 |
|
ADN009 |
Adenosquamous Carcinoma |
47 |
| 453 |
|
MXD023 |
Mixed Cell Type Cancer |
44 |
| 454 |
|
ANL011 |
Anal Canal Carcinoma |
38 |
| 455 |
|
GLC105 |
Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency |
35 |
| 456 |
|
VRT016 |
Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction |
34 |
| 457 |
|
ENT006 |
Enterokinase Deficiency |
34 |
| 458 |
|
ECC001 |
Eccrine Papillary Adenocarcinoma |
30 |
| 459 |
|
APC005 |
Apocrine Sweat Gland Neoplasm |
29 |
| 460 |
|
ECC008 |
Eccrine Sweat Gland Neoplasm |
28 |
| 461 |
|
ECC007 |
Eccrine Sweat Gland Cancer |
23 |
| 462 |
|
ACN007 |
Acinar Cell Cystadenocarcinoma |
20 |
| 463 |
c
|
MLN078 |
Male Infertility Due to Acephalic Spermatozoa |
18 |
| 464 |
c
|
FML266 |
Female Infertility Due to Zona Pellucida Defect |
17 |
| 465 |
|
NRN039 |
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia |
14 |
| 466 |
c
|
MLN081 |
Male Infertility Due to Sperm Motility Disorder |
13 |
| 467 |
c
|
RRM015 |
Rare Male Infertility |
12 |
| 468 |
|
INT381 |
Intraductal Tubulopapillary Neoplasm of Pancreas |
12 |
| 469 |
c
|
MLN085 |
Male Infertility Due to Obstructive Azoospermia |
10 |
| 470 |
|
RRP030 |
Rare Pancreatic Disease |
8 |
| 471 |
|
BNG007 |
Benign Lymphoepithelial Lesion of Salivary Gland |
7 |
| 472 |
c
|
RRM013 |
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder |
7 |
| 473 |
|
RRT012 |
Rare Tumor of Salivary Glands |
7 |
| 474 |
c
|
RRF009 |
Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder |
7 |
| 475 |
c
|
FML343 |
Female Infertility Due to Oocyte Meiotic Arrest |
6 |
| 476 |
c
|
RRM010 |
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin |
6 |
| 477 |
P
|
RRF012 |
Rare Female Infertility |
6 |
| 478 |
c
|
RRF006 |
Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin |
6 |
| 479 |
|
FRS005 |
Fraser Jequier Chen Syndrome |
6 |
| 480 |
|
VSC062 |
Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen |
6 |
| 481 |
c
|
CTS016 |
Catsper1-Related Nonsyndromic Male Infertility |
6 |
| 482 |
c
|
MLN082 |
Male Infertility Due to Sperm Disorder |
6 |
| 483 |
c
|
RRF008 |
Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism |
5 |
| 484 |
c
|
MLN080 |
Male Infertility Due to Obstructive Azoospermia of Genetic Origin |
5 |
| 485 |
c
|
MLN083 |
Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder |
5 |
| 486 |
c
|
MLN086 |
Male Infertility Due to Gonadal Dysgenesis |
5 |
| 487 |
c
|
RRF003 |
Rare Female Infertility Due to Gonadal Dysgenesis |
5 |
| 488 |
c
|
RRF010 |
Rare Female Infertility Due to an Anomaly of Ovarian Function |
5 |
| 489 |
c
|
RRM009 |
Rare Male Infertility Due to Adrenal Disorder of Genetic Origin |
4 |
| 490 |
c
|
RRM011 |
Rare Male Infertility Due to Testicular Endocrine Disorder |
4 |
| 491 |
c
|
RRF002 |
Rare Female Infertility Due to an Implantation Defect |
4 |
| 492 |
c
|
FML357 |
Female Infertility Due to an Implantation Defect of Genetic Origin |
4 |
| 493 |
c
|
RRF004 |
Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin |
4 |
| 494 |
c
|
RRF007 |
Rare Female Infertility Due to Oocyte Maturation Defect |
4 |
| 495 |
c
|
RRF005 |
Rare Female Infertility Due to Adrenal Disorder of Genetic Origin |
3 |
| 496 |
c
|
RRF011 |
Rare Female Infertility Due to an Adrenal Disorder |
3 |
| 497 |
P
|
RRG009 |
Rare Genetic Adrenal Disease |
3 |
| 498 |
c
|
HMC039 |
Hemochromatosis, Type 1 |
74 |
| 499 |
P
|
HYP086 |
Hypothyroidism |
69 |
| 500 |
P
|
HYP802 |
Hypocalcemia, Autosomal Dominant 1 |
69 |
| 501 |
c
|
MYT021 |
Myotonic Dystrophy 1 |
69 |
| 502 |
|
HYP056 |
Hypoglycemia |
66 |
| 503 |
c
|
DBT099 |
Diabetes Mellitus, Type I |
65 |
| 504 |
|
PRT036 |
Peritonitis |
64 |
| 505 |
P
|
DBT009 |
Diabetes Mellitus |
64 |
| 506 |
P
|
CMP005 |
Campomelic Dysplasia |
64 |
| 507 |
|
ALS001 |
Alstrom Syndrome |
64 |
| 508 |
P
|
CTC001 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
63 |
| 509 |
|
MNN042 |
Meningioma, Radiation-Induced |
62 |
| 510 |
P
|
NPH012 |
Nephrotic Syndrome |
60 |
| 511 |
|
DBT084 |
Diabetes Mellitus, Ketosis-Prone |
60 |
| 512 |
c
|
ACT027 |
Acute Pancreatitis |
60 |
| 513 |
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
| 514 |
P
|
WLF004 |
Wolfram Syndrome |
60 |
| 515 |
|
LNG073 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
60 |
| 516 |
|
THY029 |
Thyroid Carcinoma |
59 |
| 517 |
P
|
HYP535 |
Hypogonadotropic Hypogonadism 7 with or Without Anosmia |
59 |
| 518 |
c
|
HRD031 |
Hereditary Paraganglioma-Pheochromocytoma Syndromes |
59 |
| 519 |
P
|
VND007 |
Van Der Woude Syndrome 1 |
58 |
| 520 |
|
ALL001 |
Allan-Herndon-Dudley Syndrome |
56 |
| 521 |
c
|
GRV008 |
Graves Disease 1 |
56 |
| 522 |
c
|
NPH055 |
Nephrotic Syndrome, Type 1 |
56 |
| 523 |
P
|
GRV001 |
Graves' Disease |
55 |
| 524 |
P
|
DBT005 |
Diabetes Insipidus |
55 |
| 525 |
|
HYP060 |
Hyperinsulinism |
54 |
| 526 |
|
HYP732 |
Hyperalphalipoproteinemia 1 |
54 |
| 527 |
P
|
PRM051 |
Primary Pigmented Nodular Adrenocortical Disease |
53 |
| 528 |
P
|
HYP083 |
Hypopituitarism |
53 |
| 529 |
c
|
HYP374 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
53 |
| 530 |
|
CHN054 |
Chondrodysplasia, Blomstrand Type |
52 |
| 531 |
|
JHN001 |
Johanson-Blizzard Syndrome |
52 |
| 532 |
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
52 |
| 533 |
|
THY030 |
Thyroid Gland Disease |
52 |
| 534 |
|
FML026 |
Familial Lipoprotein Lipase Deficiency |
51 |
| 535 |
c
|
HMC021 |
Hemochromatosis, Type 2a |
51 |
| 536 |
c
|
HMC035 |
Hemochromatosis, Type 4 |
51 |
| 537 |
c
|
SCN007 |
Secondary Hyperparathyroidism |
51 |
| 538 |
|
CRD229 |
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism |
51 |
| 539 |
|
PTT041 |
Pituitary Stalk Interruption Syndrome |
50 |
| 540 |
c
|
HMC009 |
Hemochromatosis Type 2 |
50 |
| 541 |
c
|
HMC010 |
Hemochromatosis, Type 3 |
50 |
| 542 |
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
| 543 |
P
|
MYT002 |
Myotonic Dystrophy |
49 |
| 544 |
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
| 545 |
P
|
BRS053 |
Breast Fibroadenoma |
49 |
| 546 |
c
|
HYP864 |
Hypoparathyroidism, Familial Isolated, 1 |
48 |
| 547 |
c
|
NPH049 |
Nephrotic Syndrome, Type 2 |
48 |
| 548 |
P
|
GND004 |
Gonadal Dysgenesis |
48 |
| 549 |
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
48 |
| 550 |
P
|
FML362 |
Familial Isolated Hypoparathyroidism |
47 |
| 551 |
c
|
HYP549 |
Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
47 |
| 552 |
c
|
ATM092 |
Autoimmune Polyendocrine Syndrome, Type Ii |
47 |
| 553 |
P
|
PRC019 |
Precocious Puberty |
46 |
| 554 |
c
|
CNT075 |
Central Precocious Puberty |
46 |
| 555 |
P
|
ATM019 |
Autoimmune Polyendocrine Syndrome |
46 |
| 556 |
|
PSD009 |
Pseudohermaphroditism |
46 |
| 557 |
|
STT007 |
Steatocystoma Multiplex |
46 |
| 558 |
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
| 559 |
c
|
NPH054 |
Nephrotic Syndrome, Type 3 |
45 |
| 560 |
|
GLC036 |
Glucagonoma |
45 |
| 561 |
|
PRT030 |
Parathyroid Gland Disease |
45 |
| 562 |
|
ADR012 |
Adrenal Gland Disease |
45 |
| 563 |
|
PLR023 |
Polr3-Related Leukodystrophy |
45 |
| 564 |
c
|
NPH102 |
Nephrotic Syndrome, Type 14 |
44 |
| 565 |
|
SML028 |
Semilobar Holoprosencephaly |
44 |
| 566 |
P
|
HYP347 |
Hypotonia-Cystinuria Syndrome |
43 |
| 567 |
c
|
HYP349 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
42 |
| 568 |
P
|
PRT026 |
Parotitis |
42 |
| 569 |
|
ECT093 |
Ectopic Cushing Syndrome |
42 |
| 570 |
|
EXC002 |
Exocrine Pancreatic Insufficiency |
42 |
| 571 |
c
|
HMC034 |
Hemochromatosis, Type 5 |
42 |
| 572 |
P
|
ACT244 |
Acth-Independent Cushing Syndrome |
42 |
| 573 |
|
THY009 |
Thyroid Lymphoma |
42 |
| 574 |
c
|
WLF009 |
Wolfram Syndrome 2 |
42 |
| 575 |
|
ALB014 |
Alobar Holoprosencephaly |
42 |
| 576 |
c
|
FML297 |
Familial Thyroid Dyshormonogenesis |
41 |
| 577 |
c
|
FML015 |
Familial Nephrotic Syndrome |
41 |
| 578 |
P
|
RRH023 |
Rare Hereditary Hemochromatosis |
41 |
| 579 |
c
|
VNT010 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
41 |
| 580 |
|
NRM018 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
40 |
| 581 |
P
|
GRW001 |
Growth Hormone Secreting Pituitary Adenoma |
40 |
| 582 |
|
HYP085 |
Hypothalamic Disease |
40 |
| 583 |
|
ISL114 |
Isolated Growth Hormone Deficiency, Type Ii |
40 |
| 584 |
c
|
NPH072 |
Nephrotic Syndrome, Type 7 |
40 |
| 585 |
P
|
NNN028 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 |
40 |
| 586 |
|
ALC005 |
Alcoholic Pancreatitis |
40 |
| 587 |
|
FLL031 |
Follicular Adenoma |
39 |
| 588 |
c
|
ATM002 |
Autoimmune Polyendocrine Syndrome Type 1 |
39 |
| 589 |
c
|
46X079 |
46,xy Sex Reversal 11 |
39 |
| 590 |
|
HYP344 |
Hyperthyroidism, Familial Gestational |
39 |
| 591 |
|
ACT245 |
Acth-Dependent Cushing Syndrome |
39 |
| 592 |
c
|
NPH076 |
Nephrotic Syndrome, Type 10 |
39 |
| 593 |
c
|
MLG157 |
Malignant Pheochromocytoma |
38 |
| 594 |
|
ADN075 |
Adenomyoma |
38 |
| 595 |
|
HRT040 |
Hirata Disease |
38 |
| 596 |
|
46X012 |
46,xy Partial Gonadal Dysgenesis |
37 |
| 597 |
P
|
OVR075 |
Ovarian Dysgenesis 1 |
37 |
| 598 |
P
|
PNC045 |
Pancreatic Agenesis |
37 |
| 599 |
P
|
PHC019 |
Pheochromocytoma-Paraganglioma |
36 |
| 600 |
|
ANR018 |
Anorchia |
36 |
| 601 |
|
ADR009 |
Adrenal Cortex Disease |
36 |
| 602 |
c
|
HMC019 |
Hemochromatosis, Type 2b |
36 |
| 603 |
c
|
PRM340 |
Primary Adrenal Insufficiency |
36 |
| 604 |
|
ATH010 |
Athyreosis |
36 |
| 605 |
c
|
NPH047 |
Nephrotic Syndrome, Type 4 |
34 |
| 606 |
|
MCH011 |
Meacham Syndrome |
34 |
| 607 |
|
PTT001 |
Pituitary Hypoplasia |
34 |
| 608 |
c
|
46X081 |
46,xx Sex Reversal |
34 |
| 609 |
c
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
34 |
| 610 |
|
GNT167 |
Genetic Obesity |
33 |
| 611 |
c
|
VNT029 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
33 |
| 612 |
|
ADR010 |
Adrenal Cortical Hypofunction |
33 |
| 613 |
|
ACD001 |
Acidophil Adenoma |
32 |
| 614 |
c
|
HYP564 |
Hypocalcemia, Autosomal Dominant 2 |
32 |
| 615 |
c
|
LCL022 |
Localized Lipodystrophy |
32 |
| 616 |
c
|
ATM068 |
Autoimmune Hypoparathyroidism |
32 |
| 617 |
|
LYM043 |
Lymphocytic Hypophysitis |
32 |
| 618 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
32 |
| 619 |
|
ADR057 |
Adrenogenital Syndrome |
32 |
| 620 |
c
|
46X071 |
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
32 |
| 621 |
c
|
RRD013 |
Rare Diabetes Mellitus Type 2 |
31 |
| 622 |
|
THY108 |
Thymic Neuroendocrine Tumor |
31 |
| 623 |
|
HYP645 |
Hyperthyroxinemia, Dystransthyretinemic |
31 |
| 624 |
c
|
CNG608 |
Congenital Hypopituitarism |
30 |
| 625 |
|
BRN137 |
Bronchial Neuroendocrine Tumor |
30 |
| 626 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
30 |
| 627 |
|
SPR068 |
Sporadic Pheochromocytoma/secreting Paraganglioma |
29 |
| 628 |
c
|
NNN027 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 |
29 |
| 629 |
c
|
NPH096 |
Nephrotic Syndrome, Type 12 |
29 |
| 630 |
c
|
OVR076 |
Ovarian Dysgenesis 2 |
29 |
| 631 |
c
|
HYP511 |
Hypogonadotropic Hypogonadism 15 with or Without Anosmia |
29 |
| 632 |
c
|
TYP028 |
Type 1 Diabetes Mellitus 2 |
28 |
| 633 |
c
|
HYP552 |
Hypogonadotropic Hypogonadism 6 with or Without Anosmia |
28 |
| 634 |
|
IDP034 |
Idiopathic Central Precocious Puberty |
28 |
| 635 |
c
|
HYP518 |
Hypogonadotropic Hypogonadism 16 with or Without Anosmia |
28 |
| 636 |
c
|
46X017 |
46,xy Sex Reversal 6 |
28 |
| 637 |
|
MCR014 |
Microcystic Adenoma |
27 |
| 638 |
|
SCN001 |
Secondary Hyperparathyroidism of Renal Origin |
27 |
| 639 |
|
SHR102 |
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures |
27 |
| 640 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
27 |
| 641 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
27 |
| 642 |
c
|
HYP514 |
Hypogonadotropic Hypogonadism 8 with or Without Anosmia |
27 |
| 643 |
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
27 |
| 644 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
26 |
| 645 |
|
THY098 |
Thyroid Ectopia |
26 |
| 646 |
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
26 |
| 647 |
|
THY004 |
Thyroid Angiosarcoma |
26 |
| 648 |
|
PNL023 |
Penile Agenesis |
25 |
| 649 |
|
CRT065 |
Cortisone Reductase Deficiency 1 |
25 |
| 650 |
c
|
NPH073 |
Nephrotic Syndrome, Type 8 |
25 |
| 651 |
|
NNN001 |
Nonencapsulated Sclerosing Carcinoma |
25 |
| 652 |
c
|
46X047 |
46,xy Sex Reversal 7 |
25 |
| 653 |
|
FTL062 |
Fetal Iodine Deficiency Disorder |
25 |
| 654 |
c
|
NPH095 |
Nephrotic Syndrome, Type 11 |
25 |
| 655 |
|
SBC005 |
Subacute Lymphocytic Thyroiditis |
25 |
| 656 |
c
|
HYP820 |
Hypogonadotropic Hypogonadism 22 with or Without Anosmia |
25 |
| 657 |
|
FNC050 |
Functioning Gonadotropic Adenoma |
24 |
| 658 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
24 |
| 659 |
|
CRT066 |
Cortisone Reductase Deficiency 2 |
24 |
| 660 |
c
|
NPH074 |
Nephrotic Syndrome, Type 9 |
24 |
| 661 |
c
|
NPH105 |
Nephrotic Syndrome, Type 17 |
24 |
| 662 |
|
MTC025 |
Mitochondrial Myopathy with Diabetes |
24 |
| 663 |
c
|
NPH070 |
Nephrotic Syndrome, Type 6 |
24 |
| 664 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
24 |
| 665 |
c
|
RRH009 |
Rare Hypothyroidism |
24 |
| 666 |
c
|
ATM067 |
Autoimmune Polyendocrinopathy Type 3 |
24 |
| 667 |
c
|
NPH103 |
Nephrotic Syndrome, Type 15 |
24 |
| 668 |
c
|
INS009 |
Insulin-Resistance Type B |
24 |
| 669 |
c
|
HYP819 |
Hyperlipoproteinemia, Type Id |
23 |
| 670 |
c
|
HYP762 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
23 |
| 671 |
|
END038 |
Endocrine Pancreas Disease |
23 |
| 672 |
c
|
TYP035 |
Type 1 Diabetes Mellitus 11 |
23 |
| 673 |
|
HYP524 |
Hypoinsulinemic Hypoglycemia with Hemihypertrophy |
23 |
| 674 |
c
|
OVR107 |
Ovarian Dysgenesis 4 |
23 |
| 675 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
23 |
| 676 |
c
|
NPH108 |
Nephrotic Syndrome, Type 20 |
23 |
| 677 |
c
|
PRC047 |
Precocious Puberty, Central, 1 |
23 |
| 678 |
P
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
23 |
| 679 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
23 |
| 680 |
c
|
PRC046 |
Precocious Puberty, Central, 2 |
23 |
| 681 |
|
MXD014 |
Mixed Ductal-Endocrine Carcinoma |
22 |
| 682 |
c
|
TYP040 |
Type 1 Diabetes Mellitus 18 |
22 |
| 683 |
c
|
OVR102 |
Ovarian Dysgenesis 3 |
22 |
| 684 |
c
|
NPH106 |
Nephrotic Syndrome, Type 18 |
22 |
| 685 |
c
|
HRD156 |
Hereditary Central Diabetes Insipidus |
22 |
| 686 |
|
THY016 |
Thyroid Hurthle Cell Adenoma |
22 |
| 687 |
|
CHF001 |
Chief Cell Adenoma |
22 |
| 688 |
|
IGG015 |
Igg4-Related Thyroid Disease |
21 |
| 689 |
c
|
TYP029 |
Type 1 Diabetes Mellitus 3 |
21 |
| 690 |
c
|
TYP027 |
Type 1 Diabetes Mellitus 10 |
21 |
| 691 |
|
NNF008 |
Non-Functioning Paraganglioma |
21 |
| 692 |
c
|
46X046 |
46,xy Sex Reversal 4 |
21 |
| 693 |
c
|
ACQ034 |
Acquired Central Diabetes Insipidus |
21 |
| 694 |
c
|
NPH107 |
Nephrotic Syndrome, Type 19 |
21 |
| 695 |
c
|
NPH093 |
Nephrotic Syndrome, Type 13 |
20 |
| 696 |
|
FTL005 |
Fetal Adenoma |
20 |
| 697 |
c
|
TYP036 |
Type 1 Diabetes Mellitus 12 |
20 |
| 698 |
c
|
OVR115 |
Ovarian Dysgenesis 5 |
20 |
| 699 |
c
|
NPH104 |
Nephrotic Syndrome, Type 16 |
20 |
| 700 |
c
|
DBT098 |
Diabetes Mellitus, Transient Neonatal, 2 |
20 |
| 701 |
c
|
TYP030 |
Type 1 Diabetes Mellitus 4 |
20 |
| 702 |
c
|
NPH111 |
Nephrotic Syndrome, Type 21 |
20 |
| 703 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
20 |
| 704 |
c
|
MLT120 |
Multiple Fibroadenomas of the Breast |
20 |
| 705 |
|
DST011 |
Distal Chromosome 18q Deletion Syndrome |
20 |
| 706 |
c
|
TYP034 |
Type 1 Diabetes Mellitus 8 |
20 |
| 707 |
|
HYP685 |
Hypergonadotropic Hypogonadism and Partial Alopecia |
20 |
| 708 |
c
|
TYP032 |
Type 1 Diabetes Mellitus 6 |
20 |
| 709 |
c
|
TYP039 |
Type 1 Diabetes Mellitus 17 |
20 |
| 710 |
|
NNC019 |
Non-Acquired Panhypopituitarism |
20 |
| 711 |
c
|
OVR120 |
Ovarian Dysgenesis 8 |
20 |
| 712 |
|
SPN279 |
Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor |
19 |
| 713 |
P
|
PRM210 |
Primary Lipodystrophy |
19 |
| 714 |
|
SMT017 |
Somatomammotropinoma |
18 |
| 715 |
|
MCR279 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
18 |
| 716 |
|
LPD041 |
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones |
18 |
| 717 |
|
CLL011 |
Colloid Adenoma |
18 |
| 718 |
c
|
OVR118 |
Ovarian Dysgenesis 6 |
18 |
| 719 |
c
|
TYP031 |
Type 1 Diabetes Mellitus 5 |
18 |
| 720 |
c
|
TYP033 |
Type 1 Diabetes Mellitus 7 |
18 |
| 721 |
|
GRF006 |
Grfoma |
17 |
| 722 |
|
OBS060 |
Obesity Due to Sim1 Deficiency |
17 |
| 723 |
c
|
46X050 |
46,xx Sex Reversal 3 |
17 |
| 724 |
|
LTN011 |
Late-Onset Isolated Acth Deficiency |
17 |
| 725 |
|
MYP026 |
Myopathy - Thyrotoxic |
17 |
| 726 |
c
|
TYP037 |
Type 1 Diabetes Mellitus 13 |
17 |
| 727 |
|
HYP479 |
Hyperinsulinism Due to Hnf4a Deficiency |
16 |
| 728 |
|
BLT017 |
Bilateral Massive Adrenal Hemorrhage |
16 |
| 729 |
c
|
ACT247 |
Acth-Independent Macronodular Adrenal Hyperplasia 1 |
16 |
| 730 |
c
|
TYP038 |
Type 1 Diabetes Mellitus 15 |
16 |
| 731 |
|
INT226 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
16 |
| 732 |
c
|
GRV009 |
Graves Disease 2 |
15 |
| 733 |
|
ATS285 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
15 |
| 734 |
c
|
HYP867 |
Hypoparathyroidism, Familial Isolated, 2 |
15 |
| 735 |
|
INH021 |
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency |
15 |
| 736 |
c
|
TFR001 |
Tfr2-Related Hereditary Hemochromatosis |
14 |
| 737 |
c
|
SM1001 |
Sim1-Related Prader-Willi-Like Syndrome |
14 |
| 738 |
|
HYP660 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
14 |
| 739 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
| 740 |
|
PDT046 |
Pediatric-Onset Graves Disease |
14 |
| 741 |
|
PRM146 |
Primary Unilateral Adrenal Hyperplasia |
13 |
| 742 |
|
XLN112 |
X-Linked Intellectual Disability, Cilliers Type |
13 |
| 743 |
|
HYP482 |
Hyperinsulinism Due to Ucp2 Deficiency |
13 |
| 744 |
c
|
46X080 |
46,xx Sex Reversal 5 |
13 |
| 745 |
|
NRH002 |
Neurohypophysis Granular Cell Tumor |
13 |
| 746 |
|
KLL013 |
Kallmann Syndrome-Heart Disease Syndrome |
13 |
| 747 |
c
|
CMP100 |
Campomelic Dysplasia and Related Disorders |
12 |
| 748 |
|
BRS039 |
Breast Fibroadenosis |
12 |
| 749 |
c
|
CNG543 |
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies |
12 |
| 750 |
|
PPL010 |
Papillary Follicular Thyroid Adenocarcinoma |
12 |
| 751 |
|
PTT038 |
Pituitary Deficiency Due to Empty Sella Turcica Syndrome |
12 |
| 752 |
|
NRN032 |
Neuroendocrine Tumor of Anal Canal |
12 |
| 753 |
c
|
ATS423 |
Autosomal Dominant Wolfram Syndrome |
12 |
| 754 |
c
|
RRH011 |
Rare Hyperparathyroidism |
12 |
| 755 |
c
|
FML196 |
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland |
11 |
| 756 |
|
PST112 |
Post-Traumatic Pituitary Deficiency |
11 |
| 757 |
|
PTT069 |
Pituitary Deficiency Due to Rathke Cleft Cysts |
11 |
| 758 |
|
PTT039 |
Pituitary Dermoid and Epidermoid Cysts |
11 |
| 759 |
|
ECT055 |
Ectopic Aldosterone-Producing Tumor |
11 |
| 760 |
|
46X040 |
46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome |
11 |
| 761 |
c
|
RRP004 |
Rare Primary Hyperaldosteronism |
9 |
| 762 |
c
|
RRD012 |
Rare Diabetes Mellitus Type 1 |
9 |
| 763 |
|
GNT039 |
Genetic Transient Congenital Hypothyroidism |
8 |
| 764 |
|
PNC026 |
Pancreatic Mucinous Ductal Ectasia |
8 |
| 765 |
|
INT279 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
8 |
| 766 |
|
OBS068 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
8 |
| 767 |
|
SYN101 |
Syndromic Hypothyroidism |
8 |
| 768 |
c
|
PRT125 |
Parotitis, Juvenile Recurrent |
7 |
| 769 |
c
|
DBT096 |
Diabetes Mellitus, Congenital Autoimmune |
7 |
| 770 |
c
|
CTC003 |
Catecholaminergic Polymorphic Ventricular Tachycardia 5 |
7 |
| 771 |
c
|
RRP025 |
Rare Precocious Puberty |
7 |
| 772 |
c
|
CNG591 |
Congenital Hypothyroidism Due to Developmental Anomaly |
7 |
| 773 |
c
|
RRD067 |
Rare Diabetes Mellitus |
7 |
| 774 |
c
|
46X063 |
46,xy Disorder of Sex Development Due to Impaired Androgen Production |
6 |
| 775 |
c
|
RRH010 |
Rare Hypoparathyroidism |
6 |
| 776 |
|
GST003 |
Gastrin Secretion Abnormality |
6 |
| 777 |
|
HYP665 |
Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome |
5 |
| 778 |
|
MKT001 |
Mikati-Najjar-Sahli Syndrome |
5 |
| 779 |
|
HYP675 |
Hypothalamic Adipsic Hypernatraemia Syndrome |
5 |
| 780 |
|
MXD004 |
Mixed Eosinophil-Basophil Adenoma |
5 |
| 781 |
|
DZX004 |
Diazoxide-Sensitive Diffuse Hyperinsulinism |
5 |
| 782 |
|
DZX005 |
Diazoxide-Resistant Hyperinsulinism |
5 |
| 783 |
c
|
HYP851 |
Hypotonia-Cystinuria Type 1 Syndrome |
5 |
| 784 |
c
|
46X072 |
46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect |
5 |
| 785 |
|
ACQ065 |
Acquired Pituitary Hormone Deficiency |
5 |
| 786 |
P
|
RRN005 |
Rare Insulin-Resistance Syndrome |
5 |
| 787 |
|
MXD018 |
Mixed Cell Type Adenoma of Parathyroid |
4 |
| 788 |
|
PRT020 |
Parathyroid Oncocytic Adenoma |
4 |
| 789 |
|
46X068 |
46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen |
4 |
| 790 |
|
46X069 |
46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen |
4 |
| 791 |
|
MXD048 |
Mixed Functioning Pituitary Adenoma |
4 |
| 792 |
c
|
46X062 |
46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect |
4 |
| 793 |
c
|
46X074 |
46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect |
4 |
| 794 |
|
NNR001 |
Non-Renal Secondary Hyperparathyroidism |
4 |
| 795 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
| 796 |
|
NNC017 |
Non-Acquired Pituitary Hormone Deficiency |
4 |
| 797 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
4 |
| 798 |
c
|
RRD014 |
Rare Adult Hypothyroidism |
4 |
| 799 |
|
RRH007 |
Rare Hypolipidemia |
4 |
| 800 |
c
|
46X077 |
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue |
3 |
| 801 |
|
RRH003 |
Rare Hypothalamic or Pituitary Disease |
3 |
| 802 |
|
OBS083 |
Obesity Due to Congenital Leptin Resistance |
3 |
| 803 |
|
RRP003 |
Rare Peripheral Precocious Puberty |
3 |
| 804 |
|
RRS009 |
Rare Surgically Correctable Form of Primary Aldosteronism |
3 |
| 805 |
|
RRN011 |
Rare Non Surgically Correctable Form of Primary Aldosteronism |
3 |
| 806 |
P
|
46X065 |
46,xy Disorder of Gonadal Development |
3 |
| 807 |
|
PTT066 |
Pituitary Hormone Deficiency of Meningeal Origin |
3 |
| 808 |
|
DSS031 |
Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency |
3 |
| 809 |
c
|
ACQ068 |
Acquired Chronic Primary Adrenal Insufficiency |
3 |
| 810 |
c
|
GNT178 |
Genetic Chronic Primary Adrenal Insufficiency |
3 |
| 811 |
|
HYP849 |
Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies |
3 |
| 812 |
|
OTH013 |
Other Rare Diabetes Mellitus |
3 |
| 813 |
c
|
46X067 |
46,xx Disorder of Gonadal Development |
3 |
| 814 |
|
RRD020 |
Rare Disease with Cushing Syndrome As a Major Feature |
3 |
| 815 |
|
ADR058 |
Adrenal/paraganglial Tumor |
3 |
| 816 |
|
NRN048 |
Neuroendocrine Tumor with Other Location |
3 |
| 817 |
|
MLN047 |
Melanoma-Pancreatic Cancer Syndrome |
29 |
| 818 |
|
IMM177 |
Immunodeficiency 54 |
29 |
| 819 |
c
|
PRM196 |
Premature Ovarian Failure 1 |
67 |
| 820 |
c
|
PRG018 |
Paragangliomas 1 |
58 |
| 821 |
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
55 |
| 822 |
|
ADR038 |
Adermatoglyphia |
49 |
| 823 |
c
|
THY101 |
Thyroid Cancer, Nonmedullary, 5 |
18 |
| 824 |
c
|
THY100 |
Thyroid Cancer, Nonmedullary, 4 |
18 |
| 825 |
c
|
THY117 |
Thyroid Cancer, Nonmedullary, 3 |
16 |
| 826 |
P
|
FML354 |
Familial Nonmedullary Thyroid Carcinoma |
15 |
| 827 |
|
IGG007 |
Igg4-Related Disease |
47 |
| 828 |
|
WTK002 |
Witkop Syndrome |
44 |
| 829 |
|
WBB001 |
Webb-Dattani Syndrome |
23 |
| 830 |
|
GST086 |
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach |
18 |
| 831 |
P
|
DBT026 |
Diabetes Mellitus, Noninsulin-Dependent |
90 |
| 832 |
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
| 833 |
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
| 834 |
P
|
NRB001 |
Neuroblastoma |
72 |
| 835 |
c
|
MLT160 |
Multiple Endocrine Neoplasia, Type Iia |
70 |
| 836 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
68 |
| 837 |
|
IMM106 |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked |
68 |
| 838 |
P
|
SHW006 |
Shwachman-Diamond Syndrome 1 |
67 |
| 839 |
|
THY121 |
Thyroid Gland Anaplastic Carcinoma |
66 |
| 840 |
c
|
FML021 |
Familial Hypercholesterolemia |
66 |
| 841 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
| 842 |
|
TNG002 |
Tangier Disease |
65 |
| 843 |
|
LYS012 |
Lysosomal Acid Lipase Deficiency |
65 |
| 844 |
P
|
ADN016 |
Adenocarcinoma |
64 |
| 845 |
P
|
HYP069 |
Hyperparathyroidism |
63 |
| 846 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
62 |
| 847 |
|
WST001 |
West Syndrome |
61 |
| 848 |
P
|
PNC044 |
Pancreatitis |
61 |
| 849 |
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
60 |
| 850 |
|
CFF002 |
Coffin-Lowry Syndrome |
60 |
| 851 |
c
|
MLT159 |
Multiple Endocrine Neoplasia, Type Iib |
60 |
| 852 |
P
|
HYP760 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
59 |
| 853 |
c
|
PSD114 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
59 |
| 854 |
|
PRC038 |
Precocious Puberty, Male-Limited |
59 |
| 855 |
c
|
PTT056 |
Pituitary Adenoma 1, Multiple Types |
58 |
| 856 |
c
|
PRM005 |
Primary Hyperparathyroidism |
58 |
| 857 |
|
APP015 |
Apparent Mineralocorticoid Excess |
58 |
| 858 |
|
THY122 |
Thyroid Gland Cancer |
57 |
| 859 |
c
|
CRP023 |
Carpenter Syndrome 1 |
57 |
| 860 |
c
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
| 861 |
P
|
PLY011 |
Polycystic Ovary Syndrome |
56 |
| 862 |
|
EPP024 |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
56 |
| 863 |
P
|
HYP024 |
Hypoparathyroidism |
56 |
| 864 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
55 |
| 865 |
|
ZLL002 |
Zollinger-Ellison Syndrome |
55 |
| 866 |
P
|
PTT006 |
Pituitary Adenoma |
55 |
| 867 |
|
CRC006 |
Carcinoid Syndrome |
55 |
| 868 |
P
|
HYP050 |
Hyperinsulinemic Hypoglycemia |
55 |
| 869 |
|
HMZ003 |
Homozygous Familial Hypercholesterolemia |
55 |
| 870 |
P
|
CLS054 |
Classic Ehlers-Danlos Syndrome |
54 |
| 871 |
|
ACD008 |
Acid-Labile Subunit Deficiency |
54 |
| 872 |
|
PTT009 |
Pituitary Gland Disease |
54 |
| 873 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
53 |
| 874 |
c
|
HYP601 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
52 |
| 875 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
52 |
| 876 |
|
ACT238 |
Acth Deficiency, Isolated |
52 |
| 877 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
52 |
| 878 |
|
DFF036 |
Differentiated Thyroid Carcinoma |
52 |
| 879 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
| 880 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
51 |
| 881 |
c
|
HYP243 |
Hyperparathyroidism 1 |
51 |
| 882 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
51 |
| 883 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
51 |
| 884 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
51 |
| 885 |
c
|
MLT086 |
Multiple Endocrine Neoplasia, Type Iv |
51 |
| 886 |
|
PRT029 |
Parathyroid Adenoma |
50 |
| 887 |
c
|
EHL073 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
50 |
| 888 |
c
|
THY112 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
50 |
| 889 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
50 |
| 890 |
P
|
MTH008 |
Methylmalonic Acidemia |
50 |
| 891 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
49 |
| 892 |
c
|
NRB010 |
Neuroblastoma 1 |
49 |
| 893 |
c
|
HYP837 |
Hypercholesterolemia, Familial, 2 |
49 |
| 894 |
|
BRR012 |
Berardinelli-Seip Congenital Lipodystrophy |
49 |
| 895 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
49 |
| 896 |
|
ADR016 |
Adrenal Cortical Carcinoma |
48 |
| 897 |
c
|
ACT150 |
Acute Adrenal Insufficiency |
48 |
| 898 |
|
CHR661 |
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction |
48 |
| 899 |
|
HRT039 |
Heart Defects, Congenital, and Other Congenital Anomalies |
48 |
| 900 |
|
PNC034 |
Pancreas Disease |
48 |
| 901 |
|
PTT004 |
Pituitary Apoplexy |
48 |
| 902 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
48 |
| 903 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
48 |
| 904 |
|
PNC013 |
Pancreatic Ductal Carcinoma |
48 |
| 905 |
|
NNT017 |
Neonatal Adrenoleukodystrophy |
47 |
| 906 |
|
MCR209 |
Microcephaly, Epilepsy, and Diabetes Syndrome |
47 |
| 907 |
c
|
HYP795 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
47 |
| 908 |
|
NRN001 |
Neuroendocrine Carcinoma |
47 |
| 909 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
47 |
| 910 |
c
|
46X082 |
46,xy Sex Reversal |
46 |
| 911 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
46 |
| 912 |
|
SHH001 |
Sheehan Syndrome |
46 |
| 913 |
|
END031 |
Endometrial Stromal Sarcoma |
46 |
| 914 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
46 |
| 915 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
46 |
| 916 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
46 |
| 917 |
|
GST030 |
Gastrinoma |
45 |
| 918 |
c
|
SBC007 |
Subacute Thyroiditis |
45 |
| 919 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
45 |
| 920 |
c
|
HYP840 |
Hypercholesterolemia, Familial, 4 |
45 |
| 921 |
P
|
DSR089 |
Disorders of Sexual Development |
45 |
| 922 |
|
NLS001 |
Nelson Syndrome |
45 |
| 923 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
45 |
| 924 |
|
FSH001 |
Fish-Eye Disease |
45 |
| 925 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
45 |
| 926 |
|
CRT039 |
Corticosterone Methyloxidase Type I Deficiency |
45 |
| 927 |
P
|
DFF019 |
Diffuse Gastric Cancer |
45 |
| 928 |
P
|
PSD003 |
Pseudohypoaldosteronism |
44 |
| 929 |
|
IMM064 |
Immunodeficiency, Common Variable, 10 |
44 |
| 930 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
44 |
| 931 |
c
|
HYP272 |
Hypercholesterolemia, Familial, 3 |
44 |
| 932 |
c
|
46X051 |
46,xy Sex Reversal 1 |
44 |
| 933 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
| 934 |
|
CRN055 |
Carney Triad |
44 |
| 935 |
|
EMP001 |
Empty Sella Syndrome |
44 |
| 936 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
44 |
| 937 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
44 |
| 938 |
|
ADR052 |
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency |
44 |
| 939 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
| 940 |
P
|
HYP121 |
Hypoalphalipoproteinemia |
43 |
| 941 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
| 942 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
43 |
| 943 |
c
|
EHL074 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
43 |
| 944 |
|
ADR041 |
Adrenal Cortical Adenoma |
43 |
| 945 |
|
MRG013 |
Mirage Syndrome |
43 |
| 946 |
|
TST015 |
Testicular Disease |
43 |
| 947 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
43 |
| 948 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
| 949 |
c
|
HYP763 |
Hypogonadotropic Hypogonadism 23 Without Anosmia |
43 |
| 950 |
|
LBR025 |
Lobar Holoprosencephaly |
43 |
| 951 |
|
ECC004 |
Eccrine Porocarcinoma |
43 |
| 952 |
|
PRS042 |
Prostate Disease |
43 |
| 953 |
c
|
LPD030 |
Lipodystrophy, Familial Partial, Type 5 |
43 |
| 954 |
c
|
46X030 |
46,xy Sex Reversal 9 |
42 |
| 955 |
|
TRP009 |
Triple X Syndrome |
42 |
| 956 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
42 |
| 957 |
|
PNC118 |
Pancreas, Annular |
42 |
| 958 |
c
|
ADN012 |
Adenocarcinoma in Situ |
42 |
| 959 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
42 |
| 960 |
|
GTR011 |
Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors |
42 |
| 961 |
|
NNF007 |
Non-Functioning Pituitary Adenoma |
42 |
| 962 |
c
|
HYP841 |
Hypoalphalipoproteinemia, Primary, 1 |
41 |
| 963 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
41 |
| 964 |
|
OST004 |
Osteitis Fibrosa |
41 |
| 965 |
|
ADR051 |
Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency |
41 |
| 966 |
P
|
PRR025 |
Perrault Syndrome |
41 |
| 967 |
|
49X006 |
49, Xxxxy Syndrome |
41 |
| 968 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
41 |
| 969 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
| 970 |
c
|
46X055 |
46,xy Sex Reversal 3 |
40 |
| 971 |
|
MDL020 |
Midline Interhemispheric Variant of Holoprosencephaly |
40 |
| 972 |
|
WDH003 |
Woodhouse-Sakati Syndrome |
40 |
| 973 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
40 |
| 974 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
40 |
| 975 |
c
|
PSD092 |
Pseudohypoaldosteronism, Type Iie |
39 |
| 976 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
39 |
| 977 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
39 |
| 978 |
c
|
LPD034 |
Lipodystrophy, Familial Partial, Type 4 |
39 |
| 979 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
39 |
| 980 |
|
APL017 |
Apolipoprotein C-Ii Deficiency |
38 |
| 981 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
| 982 |
c
|
PLY105 |
Polycystic Ovary Syndrome 1 |
38 |
| 983 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
| 984 |
|
HYP835 |
Hypothalamic Obesity |
38 |
| 985 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
38 |
| 986 |
c
|
EHL081 |
Ehlers-Danlos Syndrome, Classic-Like |
38 |
| 987 |
|
THY124 |
Thyroid Gland Papillary Carcinoma |
38 |
| 988 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
38 |
| 989 |
|
NST002 |
Nestor-Guillermo Progeria Syndrome |
38 |
| 990 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
37 |
| 991 |
|
ADR048 |
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
37 |
| 992 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
37 |
| 993 |
|
PNC016 |
Pancreatic Cholera |
37 |
| 994 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
37 |
| 995 |
|
TMP012 |
Temple Syndrome |
37 |
| 996 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
37 |
| 997 |
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
37 |
| 998 |
|
CHN064 |
Chondrodysplasia-Pseudohermaphroditism Syndrome |
37 |
| 999 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
36 |
| 1000 |
c
|
ACT202 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
36 |
| 1001 |
|
LPS020 |
Lipase Deficiency, Combined |
36 |
| 1002 |
c
|
MND002 |
Mandibuloacral Dysplasia with Type B Lipodystrophy |
36 |
| 1003 |
c
|
LYD012 |
Leydig Cell Hypoplasia, Type I |
36 |
| 1004 |
|
DNC004 |
Diencephalic Syndrome |
36 |
| 1005 |
P
|
LRG016 |
Large Intestine Adenocarcinoma |
36 |
| 1006 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
35 |
| 1007 |
c
|
PRT134 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
35 |
| 1008 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
35 |
| 1009 |
|
RCT005 |
Rectum Neuroendocrine Neoplasm |
35 |
| 1010 |
|
OPT032 |
Optic Pathway Glioma |
35 |
| 1011 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
35 |
| 1012 |
c
|
46X057 |
46,xy Sex Reversal 8 |
35 |
| 1013 |
|
CHR034 |
Chromophobe Adenoma |
34 |
| 1014 |
|
CHR525 |
Chromosome Xq26.3 Duplication Syndrome |
34 |
| 1015 |
|
MLG048 |
Malignant Acrospiroma |
34 |
| 1016 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
| 1017 |
|
EXT054 |
Extra-Adrenal Pheochromocytoma |
34 |
| 1018 |
|
PNC027 |
Pancreatic Gastrinoma |
34 |
| 1019 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
34 |
| 1020 |
c
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
33 |
| 1021 |
|
SPT016 |
Septopreoptic Holoprosencephaly |
33 |
| 1022 |
c
|
PRR020 |
Perrault Syndrome 1 |
32 |
| 1023 |
|
GBL002 |
Goblet Cell Carcinoid |
32 |
| 1024 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
| 1025 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
32 |
| 1026 |
|
HYP611 |
Hypoparathyroidism, X-Linked |
32 |
| 1027 |
c
|
ECT065 |
Ectodermal Dysplasia 7, Hair/nail Type |
31 |
| 1028 |
|
48X003 |
48,xxyy Syndrome |
31 |
| 1029 |
|
ADR023 |
Adrenomyodystrophy |
31 |
| 1030 |
c
|
PSD093 |
Pseudohypoaldosteronism, Type Iid |
31 |
| 1031 |
c
|
NRB015 |
Neuroblastoma 2 |
31 |
| 1032 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
| 1033 |
|
CRT020 |
Cortisone Reductase Deficiency |
31 |
| 1034 |
c
|
CRP022 |
Carpenter Syndrome 2 |
31 |
| 1035 |
P
|
HRD022 |
Hordeolum |
31 |
| 1036 |
c
|
NRB014 |
Neuroblastoma 3 |
30 |
| 1037 |
|
PRL010 |
Prolactin Producing Pituitary Tumor |
30 |
| 1038 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
30 |
| 1039 |
|
PPM002 |
Ppoma |
29 |
| 1040 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
29 |
| 1041 |
|
ADR014 |
Adrenal Medulla Cancer |
29 |
| 1042 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
29 |
| 1043 |
|
THY039 |
Thyrotropin-Releasing Hormone Deficiency |
28 |
| 1044 |
|
SYN116 |
Syndromic Obesity |
28 |
| 1045 |
|
BSP001 |
Basophil Adenoma |
28 |
| 1046 |
|
GRW026 |
Growth Hormone Insensitivity, Partial |
28 |
| 1047 |
|
ADR035 |
Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion |
28 |
| 1048 |
|
DCR010 |
Dicer1 Tumor Predisposition |
28 |
| 1049 |
|
UVP001 |
Uveoparotid Fever |
27 |
| 1050 |
|
PTT044 |
Pituitary Hormone Deficiency, Combined, 4 |
27 |
| 1051 |
|
RPD006 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
27 |
| 1052 |
c
|
ACQ043 |
Acquired Lipodystrophy |
27 |
| 1053 |
|
48X001 |
48, Xxxx |
27 |
| 1054 |
|
GLC043 |
Glucocorticoid Deficiency 2 |
27 |
| 1055 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
| 1056 |
c
|
ECT068 |
Ectodermal Dysplasia 6, Hair/nail Type |
27 |
| 1057 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
| 1058 |
|
PNC028 |
Pancreatic Steatorrhea |
27 |
| 1059 |
|
ECT089 |
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia |
27 |
| 1060 |
c
|
EHL089 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
27 |
| 1061 |
c
|
ECT064 |
Ectodermal Dysplasia 5, Hair/nail Type |
27 |
| 1062 |
|
46X054 |
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs |
26 |
| 1063 |
|
FNC003 |
Functionless Pituitary Adenoma |
26 |
| 1064 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
26 |
| 1065 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
26 |
| 1066 |
c
|
DBT093 |
Diabetes Mellitus, Noninsulin-Dependent, 1 |
26 |
| 1067 |
c
|
SHW007 |
Shwachman-Diamond Syndrome 2 |
26 |
| 1068 |
P
|
TTR028 |
Tetraamelia Syndrome 1 |
25 |
| 1069 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
25 |
| 1070 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
25 |
| 1071 |
|
LCT003 |
Lactocele |
25 |
| 1072 |
c
|
PRR024 |
Perrault Syndrome 3 |
25 |
| 1073 |
|
HYP693 |
Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia |
25 |
| 1074 |
c
|
HYP720 |
Hyperparathyroidism 4 |
25 |
| 1075 |
|
DPL009 |
Duplication of the Pituitary Gland |
24 |
| 1076 |
|
48X002 |
48,xxxy Syndrome |
24 |
| 1077 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
24 |
| 1078 |
|
PRD041 |
Periodic Fever, Menstrual Cycle-Dependent |
24 |
| 1079 |
c
|
PRR021 |
Perrault Syndrome 4 |
24 |
| 1080 |
|
PNC009 |
Pancreas Sarcoma |
24 |
| 1081 |
|
ARD001 |
Aredyld |
24 |
| 1082 |
c
|
PRR022 |
Perrault Syndrome 2 |
24 |
| 1083 |
P
|
VTM003 |
Vitamin Metabolic Disorder |
24 |
| 1084 |
c
|
PRR026 |
Perrault Syndrome 5 |
23 |
| 1085 |
c
|
HYP311 |
Hyperparathyroidism 3 |
23 |
| 1086 |
|
DFN313 |
Deafness-Hypogonadism Syndrome |
23 |
| 1087 |
|
PNC031 |
Pancreatic Foamy Gland Adenocarcinoma |
23 |
| 1088 |
|
PLY115 |
Polyendocrine-Polyneuropathy Syndrome |
23 |
| 1089 |
c
|
PRT136 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
23 |
| 1090 |
P
|
CYT020 |
Cytomegalic Congenital Adrenal Hypoplasia |
23 |
| 1091 |
|
DDN028 |
Duodenal Neuroendocrine Tumor |
22 |
| 1092 |
|
OBS067 |
Obesity Due to Melanocortin 4 Receptor Deficiency |
22 |
| 1093 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
| 1094 |
|
MSC129 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
22 |
| 1095 |
c
|
HYP355 |
Hypothyroidism, Congenital, Nongoitrous, 3 |
22 |
| 1096 |
|
CLL009 |
Colloid Carcinoma of the Pancreas |
22 |
| 1097 |
|
END036 |
Endocrine Organ Benign Neoplasm |
22 |
| 1098 |
|
PNC042 |
Pancreatic Intraductal Papillary-Colloid Carcinoma |
22 |
| 1099 |
c
|
TTR029 |
Tetraamelia Syndrome 2 |
21 |
| 1100 |
|
TTR018 |
Tetragametic Chimerism |
21 |
| 1101 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
21 |
| 1102 |
|
PNC024 |
Pancreatic Colloid Cystadenoma |
20 |
| 1103 |
c
|
ATM050 |
Autoimmune Thyroid Disease 3 |
20 |
| 1104 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
20 |
| 1105 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
20 |
| 1106 |
c
|
PRR033 |
Perrault Syndrome 6 |
19 |
| 1107 |
c
|
HYP858 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
19 |
| 1108 |
|
NRN006 |
Neuroendocrine Carcinoma of the Cervix |
19 |
| 1109 |
c
|
CHR695 |
Chronic Primary Adrenal Insufficiency |
18 |
| 1110 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
18 |
| 1111 |
|
NNN035 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
18 |
| 1112 |
|
PNC017 |
Pancreatic Serous Cystic Neoplasm |
17 |
| 1113 |
|
MYT025 |
Myotubular Myopathy with Abnormal Genital Development |
17 |
| 1114 |
|
GND012 |
Gonadal Dysgenesis, Xy Type, with Associated Anomalies |
17 |
| 1115 |
c
|
FML227 |
Familial Partial Lipodystrophy Due to Akt2 Mutations |
17 |
| 1116 |
|
THY126 |
Thyroid Gland Mucoepidermoid Carcinoma |
17 |
| 1117 |
|
SLN005 |
Silent Pituitary Adenoma |
17 |
| 1118 |
|
ACN028 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
16 |
| 1119 |
c
|
DBT033 |
Diabetes Mellitus, Noninsulin-Dependent, 2 |
16 |
| 1121 |
|
GLL034 |
Gallbladder Neuroendocrine Tumor |
16 |
| 1122 |
|
PNC011 |
Pancreatic Vasoactive Intestinal Peptide Producing Tumor |
16 |
| 1123 |
c
|
INT047 |
Internal Hordeolum |
16 |
| 1124 |
|
HYP667 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
16 |
| 1125 |
|
IMM129 |
Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis |
16 |
| 1126 |
|
BSP005 |
Basophilic Adenocarcinoma |
16 |
| 1127 |
c
|
NRB012 |
Neuroblastoma 5 |
15 |
| 1128 |
|
BRC092 |
Brachytelephalangy with Characteristic Facies and Kallmann Syndrome |
15 |
| 1129 |
c
|
NRB016 |
Neuroblastoma 7 |
15 |
| 1130 |
c
|
DBT086 |
Diabetes Mellitus, Noninsulin-Dependent, 5 |
15 |
| 1131 |
|
HYP625 |
Hyperandrogenism Due to Cortisone Reductase Deficiency |
14 |
| 1132 |
|
INT298 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
14 |
| 1133 |
c
|
NRB013 |
Neuroblastoma 6 |
14 |
| 1134 |
c
|
NRB011 |
Neuroblastoma 4 |
14 |
| 1135 |
|
JJN009 |
Jejunal Neuroendocrine Tumor |
14 |
| 1136 |
|
INF124 |
Infundibulo-Neurohypophysitis |
13 |
| 1137 |
c
|
ATM056 |
Autoimmune Thyroid Disease 1 |
13 |
| 1138 |
|
DGS008 |
Digestive System Melanoma |
13 |
| 1139 |
c
|
ATM057 |
Autoimmune Thyroid Disease 2 |
13 |
| 1140 |
|
XSM001 |
X Small Rings |
12 |
| 1141 |
c
|
DSR027 |
Disorders of Vitamin D Metabolism |
12 |
| 1142 |
c
|
DBT095 |
Diabetes Mellitus, Noninsulin-Dependent, 3 |
12 |
| 1143 |
|
SXC004 |
Sex Chromosome Disorder of Sex Development |
12 |
| 1145 |
|
MLG159 |
Malignant Pediatric Adrenal Gland Pheochromocytoma |
12 |
| 1146 |
|
HYP852 |
Hypocalcemic Rickets |
12 |
| 1147 |
|
MBS006 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
11 |
| 1148 |
c
|
DBT097 |
Diabetes Mellitus, Noninsulin-Dependent, 4 |
11 |
| 1149 |
|
HYP485 |
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency |
11 |
| 1150 |
|
SVR045 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency |
10 |
| 1151 |
|
PNN006 |
Panniculitis-Induced Localized Lipodystrophy |
10 |
| 1152 |
c
|
ATM058 |
Autoimmune Thyroid Disease 4 |
10 |
| 1153 |
|
TRB001 |
Trabecular Follicular Adenocarcinoma |
9 |
| 1154 |
|
NRN043 |
Neuroendocrine Neoplasm of Esophagus |
9 |
| 1155 |
|
RRP032 |
Rare Parathyroid Tumor |
8 |
| 1156 |
|
PRL043 |
Poorly Differentiated Thymic Neuroendocrine Carcinoma |
8 |
| 1157 |
|
RRD066 |
Rare Dyslipidemia |
7 |
| 1158 |
P
|
RRT025 |
Rare Thyroid Disease |
7 |
| 1159 |
c
|
MTH069 |
Methylmalonic Acidemia Due to Transcobalamin Receptor Defect |
7 |
| 1160 |
|
CLS051 |
Classic Neuroendocrine Tumor of Appendix |
6 |
| 1161 |
c
|
RRD011 |
Rare Disorder with Hypogonadotropic Hypogonadism |
6 |
| 1162 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
6 |
| 1163 |
|
CLS028 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form |
6 |
| 1164 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
| 1165 |
|
PNC020 |
Pancreatic Solid Pseudopapillary Carcinoma |
6 |
| 1166 |
|
WLL020 |
Well-Differentiated Thymic Neuroendocrine Carcinoma |
6 |
| 1167 |
|
PNC037 |
Pancreatic Colloid Cystadenocarcinoma |
5 |
| 1168 |
|
ADR006 |
Adrenal Gland Ganglioneuroblastoma |
5 |
| 1169 |
|
MDR005 |
Moderately-Differentiated Thymic Neuroendocrine Carcinoma |
5 |
| 1170 |
c
|
PRD027 |
Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion |
5 |
| 1171 |
P
|
RRD068 |
Rare Adrenal Disease |
5 |
| 1172 |
P
|
RRH027 |
Rare Hypercholesterolemia |
5 |
| 1173 |
|
PNC021 |
Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma |
4 |
| 1174 |
|
46X076 |
46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen |
4 |
| 1175 |
|
PTT068 |
Pituitary Hormone Deficiency of Vascular Origin |
4 |
| 1176 |
|
PNC030 |
Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma |
4 |
| 1177 |
|
NNC018 |
Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations |
4 |
| 1178 |
|
PNC023 |
Pancreatic Non-Functioning Delta Cell Tumor |
4 |
| 1179 |
P
|
SYC001 |
Say Carpenter Syndrome |
4 |
| 1180 |
|
RRD015 |
Rare Disorder with Hypergonadotropic Hypogonadism |
4 |
| 1181 |
|
46X070 |
46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess |
4 |
| 1182 |
|
GNT051 |
Genetic Non-Syndromic Obesity |
3 |
| 1183 |
|
PTT064 |
Pituitary Hormone Deficiency Secondary to Storage Disease |
3 |
| 1184 |
|
PTT065 |
Pituitary Hormone Deficiency Secondary to a Granulomatous Disease |
3 |
| 1185 |
|
PTT067 |
Pituitary Hormone Deficiency of Tumoral Origin |
3 |
| 1186 |
|
RRS005 |
Rare Syndromic Dyslipidemia |
3 |
| 1187 |
|
RRP020 |
Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly |
3 |
| 1188 |
|
ATY046 |
Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome |
3 |
| 1189 |
|
RRN018 |
Rare Endocrine Growth Disease |
3 |
| 1190 |
|
DYS002 |
Dysplastic Nevus Syndrome |
53 |
| 1191 |
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
| 1192 |
|
CNN003 |
Conn's Syndrome |
79 |
| 1193 |
|
INS024 |
Insulin-Like Growth Factor I |
79 |
| 1194 |
c
|
BTT014 |
Beta-Thalassemia |
74 |
| 1195 |
|
ACR007 |
Acromegaly |
71 |
| 1196 |
P
|
FRG001 |
Fragile X Syndrome |
70 |
| 1197 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
70 |
| 1198 |
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
| 1199 |
|
ADR054 |
Adrenocortical Carcinoma, Hereditary |
66 |
| 1200 |
|
PND002 |
Pendred Syndrome |
65 |
| 1201 |
|
ACH022 |
Achalasia-Addisonianism-Alacrima Syndrome |
65 |
| 1202 |
|
CHY002 |
Chylomicron Retention Disease |
65 |
| 1203 |
|
MND021 |
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
65 |
| 1204 |
|
PTT046 |
Pituitary Hormone Deficiency, Combined, 2 |
64 |
| 1205 |
|
BRK001 |
Brooke-Spiegler Syndrome |
64 |
| 1206 |
|
CLR108 |
Colorectal Adenoma |
64 |
| 1207 |
c
|
CNG006 |
Congenital Hypothyroidism |
64 |
| 1208 |
|
HYP020 |
Hyperprolactinemia |
64 |
| 1209 |
P
|
THR117 |
Three M Syndrome 1 |
63 |
| 1210 |
c
|
ALP101 |
Alpha-Thalassemia |
62 |
| 1211 |
P
|
ECT006 |
Ectodermal Dysplasia |
62 |
| 1212 |
|
LRN002 |
Laron Syndrome |
62 |
| 1213 |
|
DNH001 |
Donohue Syndrome |
62 |
| 1214 |
|
HSH003 |
Hashimoto Thyroiditis |
62 |
| 1215 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
61 |
| 1216 |
|
PRG017 |
Paraganglioma and Gastric Stromal Sarcoma |
61 |
| 1217 |
|
HST017 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
60 |
| 1218 |
|
INS001 |
Insulinoma |
60 |
| 1219 |
|
STF001 |
Stiff-Person Syndrome |
60 |
| 1220 |
P
|
THL005 |
Thalassemia |
60 |
| 1221 |
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
| 1222 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
56 |
| 1223 |
|
ADR056 |
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete |
56 |
| 1224 |
c
|
FML035 |
Familial Hyperlipidemia |
55 |
| 1225 |
|
PSD021 |
Pseudovaginal Perineoscrotal Hypospadias |
55 |
| 1226 |
|
SCH071 |
Schaaf-Yang Syndrome |
54 |
| 1227 |
|
ADR049 |
Adrenal Hypoplasia, Congenital |
54 |
| 1228 |
|
GLC042 |
Glucocorticoid Deficiency 1 |
53 |
| 1229 |
|
HYP741 |
Hyperparathyroidism 2 with Jaw Tumors |
53 |
| 1230 |
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
53 |
| 1231 |
P
|
HMG032 |
Hemoglobin H Disease |
52 |
| 1232 |
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
| 1233 |
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
50 |
| 1234 |
P
|
PRS049 |
Persistent Mullerian Duct Syndrome |
50 |
| 1235 |
|
THY125 |
Thyroid Gland Medullary Carcinoma |
50 |
| 1236 |
c
|
ATX040 |
Ataxia-Telangiectasia-Like Disorder 1 |
49 |
| 1237 |
|
THY123 |
Thyroid Gland Follicular Carcinoma |
48 |
| 1238 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
| 1239 |
|
LPT006 |
Leptin Receptor Deficiency |
48 |
| 1240 |
|
PRS127 |
Pearson Marrow-Pancreas Syndrome |
47 |
| 1241 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
47 |
| 1242 |
|
HPT025 |
Hepatic Lipase Deficiency |
47 |
| 1243 |
|
OPS006 |
Opsoclonus-Myoclonus Syndrome |
47 |
| 1244 |
|
CMP034 |
Complete Androgen Insensitivity Syndrome |
46 |
| 1245 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
45 |
| 1246 |
P
|
LSS036 |
Lissencephaly, X-Linked, 1 |
45 |
| 1247 |
c
|
HMG003 |
Hemoglobin E Disease |
45 |
| 1248 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
45 |
| 1249 |
c
|
HYP513 |
Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
45 |
| 1250 |
|
DBT090 |
Diabetes and Deafness, Maternally Inherited |
44 |
| 1251 |
|
TSH001 |
Tsh Producing Pituitary Tumor |
44 |
| 1252 |
P
|
PHS005 |
Peho Syndrome |
44 |
| 1253 |
|
FNC007 |
Functioning Pituitary Adenoma |
43 |
| 1254 |
|
ONC003 |
Oncogenic Osteomalacia |
42 |
| 1255 |
|
LPP002 |
Lipoprotein Glomerulopathy |
42 |
| 1256 |
c
|
PRS128 |
Persistent Mullerian Duct Syndrome, Types I and Ii |
42 |
| 1257 |
|
IMM055 |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
42 |
| 1258 |
c
|
HNF003 |
Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
41 |
| 1259 |
c
|
HMG001 |
Hemoglobin C Disease |
40 |
| 1260 |
|
PNC015 |
Pancreatic Acinar Cell Adenocarcinoma |
39 |
| 1261 |
|
PNC008 |
Pancreatic Endocrine Carcinoma |
39 |
| 1262 |
|
ADR004 |
Adrenal Cortical Adenocarcinoma |
39 |
| 1263 |
c
|
HMG029 |
Hemoglobin Se Disease |
39 |
| 1264 |
|
CRT046 |
Corticosteroid-Binding Globulin Deficiency |
38 |
| 1265 |
|
THY069 |
Thyroid Hormone Resistance, Selective Pituitary |
38 |
| 1266 |
|
DBT092 |
Diabetes Insipidus, Nephrogenic, X-Linked |
38 |
| 1267 |
|
HYP737 |
Hyperhidrosis, Gustatory |
37 |
| 1268 |
|
HRM003 |
Hormone Producing Pituitary Cancer |
37 |
| 1269 |
|
CMB062 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
37 |
| 1270 |
|
OBS081 |
Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair |
37 |
| 1271 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
36 |
| 1272 |
c
|
HYP647 |
Hypogonadotropic Hypogonadism 24 Without Anosmia |
36 |
| 1273 |
|
HYP249 |
Hyperthyroidism, Nonautoimmune |
36 |
| 1274 |
|
WTR001 |
Waterhouse-Friderichsen Syndrome |
36 |
| 1275 |
c
|
HMG004 |
Hemoglobin D Disease |
36 |
| 1276 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
36 |
| 1277 |
c
|
LSS037 |
Lissencephaly, X-Linked, 2 |
35 |
| 1278 |
c
|
HYP438 |
Hyperaldosteronism, Familial, Type Iii |
35 |
| 1279 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
34 |
| 1280 |
c
|
HYP547 |
Hypogonadotropic Hypogonadism 12 with or Without Anosmia |
34 |
| 1281 |
c
|
LPD036 |
Lipodystrophy, Familial Partial, Type 6 |
34 |
| 1282 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
34 |
| 1283 |
P
|
CNT037 |
Central Nervous System Germinoma |
33 |
| 1284 |
|
PNC039 |
Pancreatic Cystadenoma |
33 |
| 1285 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
| 1286 |
|
PNC127 |
Pancreatic Adenosquamous Carcinoma |
32 |
| 1287 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
32 |
| 1288 |
c
|
KNN007 |
Kenny-Caffey Syndrome, Type 2 |
32 |
| 1289 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
31 |
| 1290 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
31 |
| 1291 |
|
PNC002 |
Pancreatic Mucinous Cystadenoma |
31 |
| 1292 |
c
|
ECT066 |
Ectodermal Dysplasia 9, Hair/nail Type |
31 |
| 1293 |
|
PRM205 |
Primary Hepatic Neuroendocrine Carcinoma |
31 |
| 1294 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
| 1295 |
|
KPP002 |
Keppen-Lubinsky Syndrome |
31 |
| 1296 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
30 |
| 1297 |
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
30 |
| 1298 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
30 |
| 1299 |
|
STY001 |
Satoyoshi Syndrome |
30 |
| 1300 |
|
TMR001 |
Tumor of Exocrine Pancreas |
30 |
| 1301 |
|
46X053 |
46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy |
29 |
| 1302 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
29 |
| 1303 |
|
ISL125 |
Isolated Growth Hormone Deficiency Type Iii |
29 |
| 1304 |
c
|
THR069 |
Three M Syndrome 2 |
29 |
| 1305 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
29 |
| 1306 |
|
PNC006 |
Pancreatic Somatostatinoma |
28 |
| 1307 |
c
|
PHL010 |
Peho-Like Syndrome |
28 |
| 1308 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
27 |
| 1309 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
27 |
| 1310 |
|
GRW023 |
Growth Hormone Deficiency, Isolated Partial |
27 |
| 1311 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
27 |
| 1312 |
|
TLL001 |
Tall Cell Variant Papillary Carcinoma |
27 |
| 1313 |
|
SML004 |
Small Intestine Neuroendocrine Neoplasm |
27 |
| 1314 |
|
MYM012 |
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism |
27 |
| 1315 |
|
PRM183 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities |
26 |
| 1316 |
|
ADR003 |
Adrenal Neuroblastoma |
26 |
| 1317 |
c
|
ATS312 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
26 |
| 1318 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
26 |
| 1319 |
|
FML211 |
Familial Papillary or Follicular Thyroid Carcinoma |
26 |
| 1320 |
|
PGD001 |
Pagod Syndrome |
26 |
| 1321 |
|
THY031 |
Thyroid Sarcoma |
26 |
| 1322 |
|
KWR001 |
Kowarski Syndrome |
25 |
| 1323 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
25 |
| 1324 |
|
HYP683 |
Hypogonadism-Cataract Syndrome |
25 |
| 1325 |
|
PNC038 |
Pancreatic Cystadenocarcinoma |
25 |
| 1326 |
|
PNC018 |
Pancreatic Serous Cystadenoma |
24 |
| 1327 |
P
|
KNN002 |
Kenny-Caffey Syndrome |
24 |
| 1328 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
24 |
| 1329 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
24 |
| 1330 |
|
ANS010 |
Anus Adenocarcinoma |
24 |
| 1331 |
c
|
ATX041 |
Ataxia-Telangiectasia-Like Disorder 2 |
24 |
| 1332 |
|
URC004 |
Urachal Cancer |
23 |
| 1333 |
c
|
THR096 |
Three M Syndrome 3 |
23 |
| 1334 |
|
NNF001 |
Non-Functioning Pancreatic Endocrine Tumor |
22 |
| 1335 |
|
THY127 |
Thyroid Gland Hurthle Cell Carcinoma |
21 |
| 1336 |
|
MRB006 |
Morbid Obesity and Spermatogenic Failure |
21 |
| 1337 |
c
|
ATS310 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related |
21 |
| 1338 |
|
DST037 |
Distal Monosomy 9p |
20 |
| 1339 |
|
GST111 |
Gastroenteropancreatic Neuroendocrine Neoplasm |
20 |
| 1340 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
20 |
| 1341 |
|
GRW032 |
Growth Factors, Combined Defect of |
20 |
| 1342 |
|
NRN045 |
Neuroendocrine Neoplasm of Appendix |
19 |
| 1343 |
c
|
ECT114 |
Ectodermal Dysplasia 10b |
18 |
| 1344 |
|
NRN033 |
Neuroendocrine Tumor of the Colon |
18 |
| 1345 |
c
|
ATS311 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related |
18 |
| 1346 |
|
MLT005 |
Multicentric Papillary Thyroid Carcinoma |
17 |
| 1347 |
|
HGH030 |
High-Grade Neuroendocrine Carcinoma of the Cervix Uteri |
16 |
| 1348 |
|
6Q1002 |
6q16 Microdeletion Syndrome |
16 |
| 1349 |
|
PST034 |
Posterior Pituitary Gland Neoplasm |
14 |
| 1350 |
|
PNC126 |
Pancreatic Squamous Cell Carcinoma |
14 |
| 1351 |
|
FNC065 |
Functioning Neuroendocrine Tumor of Pancreas |
14 |
| 1352 |
|
ADR047 |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone |
14 |
| 1353 |
|
DYS177 |
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome |
14 |
| 1354 |
|
THY092 |
Thymic Neuroendocrine Carcinoma |
14 |
| 1355 |
|
SYM015 |
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers |
13 |
| 1356 |
|
PNC010 |
Pancreatic Signet Ring Cell Adenocarcinoma |
12 |
| 1357 |
c
|
PRD023 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 |
11 |
| 1358 |
|
MDD017 |
Middle Ear Neuroendocrine Tumor |
9 |
| 1359 |
|
PRP104 |
Prepubertal Anorexia Nervosa |
8 |
| 1360 |
|
CLM001 |
Columnar Cell Variant Papillary Carcinoma |
8 |
| 1361 |
|
SRT005 |
Serotonin-Producing Neuroendocrine Tumor of Pancreas |
8 |
| 1362 |
c
|
ALP107 |
Alpha-Thalassemia and Related Diseases |
7 |
| 1363 |
|
MLG047 |
Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland |
7 |
| 1364 |
|
HGH029 |
High-Grade Neuroendocrine Carcinoma of the Corpus Uteri |
7 |
| 1365 |
|
MXD045 |
Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas |
7 |
| 1366 |
P
|
RRH006 |
Rare Hyperlipidemia |
6 |
| 1367 |
|
PNC029 |
Pancreatic Acth Hormone Producing Tumor |
6 |
| 1368 |
c
|
ADL036 |
Adult Central Nervous System Germinoma |
6 |
| 1369 |
|
CLS025 |
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
6 |
| 1370 |
|
PNC040 |
Pancreatic Delta Cell Neoplasm |
5 |
| 1371 |
|
MLG045 |
Malignant Growth Hormone Secreting Neoplasm of Pituitary |
5 |
| 1372 |
|
MLG046 |
Malignant Acth Producing Neoplasm of Pituitary Gland |
5 |
| 1373 |
c
|
BTT015 |
Beta-Thalassemia and Related Diseases |
5 |
| 1374 |
|
PNC004 |
Pancreatic Non-Invasive Mucinous Cystadenocarcinoma |
5 |
| 1375 |
|
OST010 |
Osteoclast-Like Giant Cell Neoplasm of the Pancreas |
5 |
| 1376 |
|
NNC007 |
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
5 |
| 1377 |
c
|
46X073 |
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect |
4 |
| 1378 |
|
PNC003 |
Pancreatic Invasive Mucinous Cystadenocarcinoma |
4 |
| 1379 |
|
46X078 |
46,xx Disorder of Sex Development Induced by Androgens Excess |
4 |
| 1380 |
c
|
FRG004 |
Fragile X Syndrome Type 1 |
3 |
| 1381 |
c
|
FRG005 |
Fragile X Syndrome Type 2 |
3 |
| 1382 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
3 |
| 1383 |
c
|
ACT243 |
Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor |
3 |
| 1384 |
|
GST109 |
Gastroenteric Neuroendocrine Neoplasm |
3 |
| 1385 |
|
END035 |
Endocrine Gland Cancer |
45 |
| 1386 |
|
ADR007 |
Adrenoleukodystrophy |
75 |
| 1387 |
c
|
MLT156 |
Multiple Endocrine Neoplasia, Type I |
72 |
| 1388 |
c
|
PNC108 |
Pancreatitis, Hereditary |
70 |
| 1389 |
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
| 1390 |
|
AND002 |
Androgen Insensitivity Syndrome |
66 |
| 1391 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
65 |
| 1392 |
|
MRK001 |
Merkel Cell Carcinoma |
65 |
| 1393 |
|
PLL001 |
Pallister-Hall Syndrome |
64 |
| 1394 |
|
SPT006 |
Septooptic Dysplasia |
64 |
| 1395 |
c
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
64 |
| 1396 |
c
|
LPD015 |
Lipodystrophy, Familial Partial, Type 2 |
64 |
| 1397 |
|
CHN016 |
Cohen Syndrome |
63 |
| 1398 |
P
|
CRN038 |
Carney Complex Variant |
61 |
| 1399 |
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
61 |
| 1400 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
58 |
| 1401 |
|
ADR005 |
Adrenal Carcinoma |
58 |
| 1402 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
| 1403 |
P
|
MLT074 |
Multiple Endocrine Neoplasia |
56 |
| 1404 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
56 |
| 1405 |
|
AND020 |
Androgen Insensitivity, Partial |
56 |
| 1406 |
|
NRN004 |
Neuroendocrine Tumor |
55 |
| 1407 |
|
ADR008 |
Adrenal Adenoma |
55 |
| 1408 |
|
ISL014 |
Isolated Growth Hormone Deficiency, Type Ia |
55 |
| 1409 |
c
|
ATM024 |
Autoimmune Pancreatitis |
55 |
| 1410 |
P
|
MCR240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
54 |
| 1411 |
c
|
FML116 |
Familial Cold Autoinflammatory Syndrome 1 |
54 |
| 1412 |
c
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
53 |
| 1413 |
c
|
HYP740 |
Hyperlipoproteinemia, Type V |
53 |
| 1414 |
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
52 |
| 1415 |
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
52 |
| 1416 |
c
|
HYP843 |
Hypoalphalipoproteinemia, Primary, 2 |
52 |
| 1417 |
|
CLL036 |
Culler-Jones Syndrome |
51 |
| 1418 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
51 |
| 1419 |
|
GRD009 |
Gordon Holmes Syndrome |
51 |
| 1420 |
|
ADR042 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
50 |
| 1421 |
|
VPM001 |
Vipoma |
50 |
| 1422 |
|
ISL003 |
Isolated Growth Hormone Deficiency |
49 |
| 1423 |
|
GLY014 |
Glycerol Kinase Deficiency |
49 |
| 1424 |
|
WLS003 |
Wilson-Turner X-Linked Mental Retardation Syndrome |
49 |
| 1425 |
|
PTT008 |
Pituitary Carcinoma |
48 |
| 1426 |
c
|
FML253 |
Familial Cold Autoinflammatory Syndrome 3 |
47 |
| 1427 |
c
|
LPD021 |
Lipodystrophy, Familial Partial, Type 3 |
47 |
| 1428 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
46 |
| 1429 |
c
|
CRN243 |
Carney Complex, Type 1 |
43 |
| 1430 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
43 |
| 1431 |
c
|
FML117 |
Familial Cold Autoinflammatory Syndrome 2 |
43 |
| 1432 |
|
OPS001 |
Opisthorchiasis |
41 |
| 1433 |
|
EST007 |
Estrogen Resistance |
41 |
| 1434 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
40 |
| 1435 |
|
ENC038 |
Encephalopathy, Progressive, with or Without Lipodystrophy |
40 |
| 1436 |
|
BCH003 |
Boucher-Neuhauser Syndrome |
40 |
| 1437 |
P
|
FML156 |
Familial Hyperaldosteronism |
39 |
| 1438 |
|
PNC019 |
Pancreatoblastoma |
39 |
| 1439 |
|
HYP856 |
Hypothyroidism, Central, with Testicular Enlargement |
39 |
| 1440 |
|
ARC025 |
Arachnoid Cysts, Intracranial |
38 |
| 1441 |
|
PNC104 |
Pancreatic and Cerebellar Agenesis |
37 |
| 1442 |
|
PRP098 |
Proprotein Convertase 1/3 Deficiency |
37 |
| 1443 |
P
|
SYN165 |
Syndromic Microphthalmia |
35 |
| 1444 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
35 |
| 1445 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
35 |
| 1446 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
34 |
| 1447 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
34 |
| 1448 |
|
CYL004 |
Cylindromatosis, Familial |
33 |
| 1449 |
|
PLS002 |
Peliosis Hepatis |
33 |
| 1450 |
c
|
HYP600 |
Hyperaldosteronism, Familial, Type Ii |
32 |
| 1451 |
c
|
HYP708 |
Hyperaldosteronism, Familial, Type Iv |
30 |
| 1452 |
|
MNT318 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome |
29 |
| 1453 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
28 |
| 1454 |
|
MMS001 |
Momo Syndrome |
28 |
| 1455 |
|
ECC003 |
Eccrine Papillary Adenoma |
28 |
| 1456 |
|
PTT047 |
Pituitary Hormone Deficiency, Combined, 3 |
28 |
| 1457 |
c
|
HYP860 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
27 |
| 1458 |
c
|
MCR262 |
Microphthalmia, Syndromic 4 |
25 |
| 1459 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
25 |
| 1460 |
c
|
MCR331 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
24 |
| 1461 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
24 |
| 1462 |
c
|
FML270 |
Familial Cold Autoinflammatory Syndrome 4 |
23 |
| 1463 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
| 1464 |
|
ILL008 |
Ileal Neuroendocrine Tumor |
22 |
| 1465 |
|
NRN047 |
Neuroendocrine Neoplasm of Pancreas |
19 |
| 1466 |
|
HYD021 |
Hydrocephalus Obesity Hypogonadism |
19 |
| 1467 |
|
PNC007 |
Pancreas Lymphoma |
18 |
| 1468 |
|
MNT030 |
Mental Retardation Syndrome, Belgian Type |
18 |
| 1469 |
|
NRN044 |
Neuroendocrine Carcinoma of Pancreas |
18 |
| 1470 |
c
|
CRN298 |
Carney Complex, Type 2 |
18 |
| 1471 |
|
NNF009 |
Non-Functioning Neuroendocrine Tumor of Pancreas |
17 |
| 1472 |
c
|
MYC055 |
Mycobacterium Tuberculosis 3 |
14 |
| 1473 |
|
PSD102 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
14 |
| 1474 |
c
|
MYC054 |
Mycobacterium Tuberculosis 2 |
14 |
| 1475 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
7 |
| 1476 |
|
46X075 |
46,xx Disorder of Sex Development Induced by Fetal Androgens Excess |
5 |
| 1477 |
|
PSD120 |
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy |
3 |
| 1478 |
P
|
PNC035 |
Pancreatic Cancer |
84 |
| 1479 |
|
SCK003 |
Sickle Cell Anemia |
74 |
| 1480 |
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
| 1481 |
P
|
HYP724 |
Hyperlipoproteinemia, Type Iii |
73 |
| 1482 |
|
LPD012 |
Lipoid Congenital Adrenal Hyperplasia |
70 |
| 1483 |
|
ABT001 |
Abetalipoproteinemia |
69 |
| 1484 |
|
CHR103 |
Charge Syndrome |
67 |
| 1485 |
|
PRT010 |
Parathyroid Carcinoma |
67 |
| 1486 |
|
CRN036 |
Craniopharyngioma |
65 |
| 1487 |
|
ATM096 |
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia |
65 |
| 1488 |
|
PTT048 |
Pituitary Adenoma, Prolactin-Secreting |
65 |
| 1489 |
|
CRB011 |
Cerebrotendinous Xanthomatosis |
65 |
| 1490 |
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
| 1491 |
c
|
HYP798 |
Hypophosphatemic Rickets, X-Linked Recessive |
60 |
| 1492 |
|
FML063 |
Familial Glucocorticoid Deficiency |
58 |
| 1493 |
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
| 1494 |
|
PNL019 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities |
57 |
| 1495 |
|
ISL001 |
Islet Cell Tumor |
56 |
| 1496 |
P
|
ACT092 |
Acth-Independent Macronodular Adrenal Hyperplasia |
56 |
| 1497 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
| 1498 |
|
SMT003 |
Somatostatinoma |
52 |
| 1499 |
c
|
HYP739 |
Hyperlipoproteinemia, Type Iv |
50 |
| 1500 |
|
MRT007 |
Martsolf Syndrome |
49 |
| 1501 |
|
INP001 |
Inappropriate Adh Syndrome |
49 |
| 1502 |
|
WDM005 |
Wiedemann-Rautenstrauch Syndrome |
49 |
| 1503 |
|
PGT003 |
Paget Disease, Extramammary |
47 |
| 1504 |
|
ANK017 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
46 |
| 1505 |
|
SPS204 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity |
45 |
| 1506 |
|
CHP002 |
Chops Syndrome |
44 |
| 1507 |
|
APP009 |
Appendix Adenocarcinoma |
44 |
| 1508 |
|
BSM002 |
Bosma Arhinia Microphthalmia Syndrome |
41 |
| 1509 |
|
ISL015 |
Isolated Growth Hormone Deficiency, Type Ib |
39 |
| 1510 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
39 |
| 1511 |
|
GST004 |
Gastric Neuroendocrine Neoplasm |
37 |
| 1512 |
|
ISL122 |
Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia |
35 |
| 1513 |
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
| 1514 |
|
FCL045 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
33 |
| 1515 |
|
TMR017 |
Tumoral Calcinosis, Normophosphatemic, Familial |
32 |
| 1516 |
c
|
PSD104 |
Pseudohypoparathyroidism, Type Ii |
31 |
| 1517 |
|
NRL023 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset |
30 |
| 1518 |
|
PNC014 |
Pancreatic Serous Cystadenocarcinoma |
29 |
| 1519 |
|
THY064 |
Thyroid Hormone Metabolism, Abnormal |
29 |
| 1520 |
|
IDP085 |
Idiopathic Infantile Hypercalcemia |
28 |
| 1521 |
|
VNS015 |
Van Esch-O'driscoll Syndrome |
26 |
| 1522 |
c
|
LPD044 |
Lipodystrophy, Familial Partial, Type 7 |
25 |
| 1523 |
|
DTH005 |
Diethylstilbestrol Syndrome |
25 |
| 1524 |
|
THY065 |
Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia |
24 |
| 1525 |
|
ACR079 |
Acrodysostosis with Multiple Hormone Resistance |
24 |
| 1526 |
|
MSC089 |
Mosaic Monosomy X |
21 |
| 1527 |
|
LYM123 |
Lymphedema-Hypoparathyroidism Syndrome |
21 |
| 1528 |
|
MLP006 |
Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type |
21 |
| 1529 |
c
|
TRN055 |
Turner Syndrome Due to Structural X Chromosome Anomalies |
18 |
| 1530 |
|
HYP494 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
15 |
| 1531 |
c
|
HYP768 |
Hyperlipoproteinemia, Type I |
67 |
| 1532 |
|
THY111 |
Thyroid Carcinoma, Familial Medullary |
67 |
| 1533 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
66 |
| 1534 |
P
|
HYP609 |
Hypophosphatemic Rickets, X-Linked Dominant |
64 |
| 1535 |
|
HYP780 |
Hypoadrenocorticism, Familial |
63 |
| 1536 |
c
|
HYP731 |
Hyperaldosteronism, Familial, Type I |
60 |
| 1537 |
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
| 1538 |
P
|
PRD006 |
Prader-Willi Syndrome |
59 |
| 1539 |
|
HYP257 |
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease |
59 |
| 1540 |
|
CLS005 |
Clouston Syndrome |
58 |
| 1541 |
|
LCT022 |
Lecithin:cholesterol Acyltransferase Deficiency |
58 |
| 1542 |
c
|
LPD032 |
Lipodystrophy, Congenital Generalized, Type 1 |
57 |
| 1543 |
|
VTM027 |
Vitamin D-Dependent Rickets, Type 2a |
56 |
| 1544 |
|
FRS002 |
Frasier Syndrome |
55 |
| 1545 |
|
SMT008 |
Smith-Magenis Syndrome |
54 |
| 1546 |
|
BLP046 |
Blepharophimosis, Ptosis, and Epicanthus Inversus |
54 |
| 1547 |
P
|
MRN003 |
Marinesco-Sjogren Syndrome |
54 |
| 1548 |
c
|
LPD033 |
Lipodystrophy, Congenital Generalized, Type 2 |
54 |
| 1549 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
52 |
| 1550 |
|
HYP134 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
52 |
| 1551 |
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
51 |
| 1552 |
P
|
46X052 |
46,xx Sex Reversal 1 |
50 |
| 1553 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
49 |
| 1554 |
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
49 |
| 1555 |
|
ARM004 |
Aromatase Excess Syndrome |
48 |
| 1556 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
47 |
| 1557 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
46 |
| 1558 |
|
SML031 |
Small Cell Carcinoma of the Bladder |
46 |
| 1559 |
|
LRN001 |
Laurence-Moon Syndrome |
45 |
| 1560 |
|
FML091 |
Familial Tumoral Calcinosis |
44 |
| 1561 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
38 |
| 1562 |
|
17B003 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
36 |
| 1563 |
c
|
WLF011 |
Wolfram-Like Syndrome, Autosomal Dominant |
33 |
| 1564 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
32 |
| 1565 |
|
MNT300 |
Mental Retardation, X-Linked, with Panhypopituitarism |
22 |
| 1566 |
|
MNT259 |
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies |
22 |
| 1567 |
|
CLB031 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
16 |
| 1568 |
|
OST061 |
Osteosclerosis with Ichthyosis and Premature Ovarian Failure |
15 |
| 1569 |
c
|
MRN006 |
Marinesco-Sjogren-Like Syndrome |
8 |
| 1570 |
|
LPT014 |
Leptin Deficiency or Dysfunction |
74 |
| 1571 |
P
|
SRC025 |
Sarcoidosis 1 |
70 |
| 1572 |
P
|
TRN020 |
Turner Syndrome |
67 |
| 1573 |
c
|
PSD108 |
Pseudohypoparathyroidism, Type Ia |
66 |
| 1574 |
P
|
SHR029 |
Short Syndrome |
63 |
| 1575 |
P
|
TMR018 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
61 |
| 1576 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
60 |
| 1577 |
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
58 |
| 1578 |
|
DNY001 |
Denys-Drash Syndrome |
57 |
| 1579 |
P
|
PSD015 |
Pseudohypoparathyroidism |
56 |
| 1580 |
|
PSD014 |
Pseudopseudohypoparathyroidism |
55 |
| 1581 |
c
|
PSD066 |
Pseudohypoparathyroidism, Type Ib |
55 |
| 1582 |
c
|
SHR030 |
Short Qt Syndrome |
46 |
| 1583 |
c
|
HYP752 |
Hypocalciuric Hypercalcemia, Familial, Type I |
45 |
| 1584 |
c
|
SRC023 |
Sarcoidosis 2 |
43 |
| 1585 |
c
|
HYP753 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
42 |
| 1586 |
c
|
FML294 |
Familial Short Qt Syndrome |
41 |
| 1587 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
| 1588 |
c
|
PSD117 |
Pseudohypoparathyroidism, Type Ic |
38 |
| 1589 |
|
IMM179 |
Immunodeficiency 31c |
33 |
| 1590 |
c
|
SHR032 |
Short Qt Syndrome 2 |
32 |
| 1591 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
29 |
| 1592 |
c
|
SHR033 |
Short Qt Syndrome 3 |
29 |
| 1593 |
|
GRW003 |
Growth Hormone Insensitivity with Immunodeficiency |
28 |
| 1594 |
c
|
SHR031 |
Short Qt Syndrome 1 |
28 |
| 1595 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
28 |
| 1596 |
|
CHR506 |
Choroideremia, Deafness, and Mental Retardation |
27 |
| 1597 |
c
|
TMR020 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
25 |
| 1598 |
c
|
TMR019 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
25 |
| 1599 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
21 |
| 1600 |
c
|
SRC024 |
Sarcoidosis 3 |
20 |
| 1601 |
|
HYP686 |
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies |
17 |
| 1602 |
P
|
LFR001 |
Li-Fraumeni Syndrome |
72 |
| 1603 |
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
66 |
| 1604 |
c
|
MYT020 |
Myotonic Dystrophy 2 |
57 |
| 1605 |
P
|
FML068 |
Familial Hypocalciuric Hypercalcemia |
54 |
| 1606 |
|
MHM001 |
Mehmo Syndrome |
47 |
| 1607 |
c
|
LFR007 |
Li-Fraumeni Syndrome 2 |
45 |
| 1608 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
36 |
| 1609 |
c
|
LFR009 |
Li-Fraumeni Syndrome 1 |
26 |
| 1610 |
|
MCC012 |
Mccune-Albright Syndrome |
70 |
| 1611 |
|
DGR001 |
Digeorge Syndrome |
64 |
| 1612 |
|
ARM001 |
Aromatase Deficiency |
54 |
| 1613 |
c
|
HYP608 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
41 |
| 1614 |
P
|
GLC113 |
Galactosemia I |
64 |
| 1615 |
c
|
GLC112 |
Galactosemia Iii |
56 |
| 1616 |
P
|
MND003 |
Mandibuloacral Dysplasia with Type a Lipodystrophy |
51 |
| 1617 |
|
BRJ001 |
Borjeson-Forssman-Lehmann Syndrome |
49 |
| 1618 |
c
|
GLC111 |
Galactosemia Ii |
46 |
| 1619 |
c
|
GLC115 |
Galactosemia Iv |
20 |
| 1620 |
|
CTR140 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia |
32 |
