# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
PGM021 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
28 |
2 |
|
PNC120 |
Pancreas, Dorsal, Agenesis of |
27 |
3 |
|
PNC048 |
Pancreatic Lipase Deficiency |
31 |
4 |
|
SLV025 |
Salivary Gland Adenoma, Pleomorphic |
39 |
5 |
c
|
PGM011 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
27 |
6 |
|
SLV003 |
Salivary Gland Disease |
42 |
7 |
|
LCR011 |
Lacrimal Gland Carcinoma |
28 |
8 |
c
|
THY114 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
37 |
9 |
|
SLD003 |
Sialadenitis |
49 |
10 |
|
UND013 |
Undifferentiated Carcinoma with Osteoclast-Like Giant Cells of Pancreas |
20 |
11 |
|
TRP008 |
Tropical Calcific Pancreatitis |
44 |
12 |
|
PTT071 |
Pituitary Hormone Deficiency, Combined or Isolated, 7 |
24 |
13 |
|
APL002 |
Aplasia of Lacrimal and Salivary Glands |
59 |
14 |
|
SLL001 |
Sialolithiasis |
38 |
15 |
|
MCC003 |
Mucocele of Salivary Gland |
28 |
16 |
c
|
PGM022 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
25 |
17 |
|
PRR005 |
Paraurethral Gland Cancer |
21 |
18 |
|
SWT008 |
Sweat Gland Benign Neoplasm |
35 |
19 |
|
ACC005 |
Accessory Pancreas |
27 |
20 |
|
ISL123 |
Isolated Growth Hormone Deficiency, Type Iv |
28 |
21 |
c
|
PGM012 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
16 |
22 |
c
|
PNC106 |
Pancreatic Agenesis 1 |
36 |
23 |
|
ANH004 |
Anhidrosis, Isolated, with Normal Sweat Glands |
44 |
24 |
P
|
GRW041 |
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive |
31 |
25 |
|
MTR082 |
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction |
43 |
26 |
c
|
PNC105 |
Pancreatic Agenesis 2 |
19 |
27 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
19 |
28 |
|
PTT070 |
Pituitary Hormone Deficiency, Combined or Isolated, 1 |
35 |
29 |
|
BRT045 |
Bartholin's Gland Benign Neoplasm |
23 |
30 |
|
HDR004 |
Hidradenoma |
33 |
31 |
|
EXC004 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis |
24 |
32 |
|
BRT014 |
Bartholin's Duct Cyst |
23 |
33 |
|
SBC017 |
Sebaceous Gland Disease |
37 |
34 |
c
|
ACR119 |
Acrodysostosis 2 with or Without Hormone Resistance |
29 |
35 |
P
|
THY129 |
Thyroid Hormone Metabolism, Abnormal, 1 |
26 |
36 |
|
SBL001 |
Sublingual Gland Cancer |
24 |
37 |
c
|
ATM064 |
Autoimmune Pancreatitis Type 1 |
22 |
38 |
|
CNG298 |
Congenital Pancreatic Cyst |
21 |
39 |
|
LCR007 |
Lacrimal Gland Squamous Cell Carcinoma |
13 |
40 |
|
NNC012 |
Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency |
11 |
41 |
|
ATM078 |
Autoimmune Addison Disease |
23 |
42 |
|
MLG051 |
Malignant Glandular Tumor of Peripheral Nerve Sheath |
19 |
43 |
|
SXH002 |
Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus |
9 |
44 |
|
BRN010 |
Bronchial Mucus Gland Adenoma |
6 |
45 |
|
PRR003 |
Paraurethral Gland Neoplasm |
6 |
46 |
|
ULN003 |
Ulnar-Mammary Syndrome |
58 |
47 |
|
PLM014 |
Pleomorphic Adenoma |
52 |
48 |
|
PNC056 |
Pineocytoma |
45 |
49 |
|
GLN002 |
Glanders |
44 |
50 |
|
HLX001 |
Helix Syndrome |
43 |
51 |
P
|
ACR110 |
Acrodysostosis 1 with or Without Hormone Resistance |
32 |
52 |
|
MTC096 |
Mitchell-Riley Syndrome |
28 |
53 |
|
PTT043 |
Pituitary Hormone Deficiency, Combined, 6 |
20 |
54 |
|
ECC002 |
Eccrine Acrospiroma |
34 |
55 |
|
SWT003 |
Sweat Gland Disease |
34 |
56 |
|
GLN006 |
Glandular Cystitis |
29 |
57 |
|
BRT012 |
Bartholin's Gland Adenoma |
24 |
58 |
|
ADN072 |
Adenoma of Pancreas |
19 |
59 |
c
|
ATM063 |
Autoimmune Pancreatitis Type 2 |
18 |
60 |
|
SQM014 |
Squamous Cell Carcinoma of Pancreas |
18 |
61 |
|
VGN021 |
Vaginal Glandular Tumor |
15 |
62 |
|
BRT060 |
Bartholin's Gland Disease |
15 |
63 |
|
FNC012 |
Functioning Pancreatic Endocrine Tumor |
12 |
64 |
|
DWR020 |
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone |
12 |
65 |
|
PRP074 |
Peripheral Resistance to Thyroid Hormones |
11 |
66 |
|
FLL045 |
Follicular Cholangitis and Pancreatitis |
9 |
67 |
|
THY118 |
Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 |
9 |
68 |
|
BRT006 |
Bartholin's Gland Adenosquamous Carcinoma |
6 |
69 |
|
MNR001 |
Minor Vestibular Glands Adenoma |
6 |
70 |
|
BRT009 |
Bartholin's Gland Adenomyoma |
6 |
71 |
|
VLV037 |
Vulvar Glandular Tumor |
5 |
72 |
|
MKL001 |
Mikulicz Disease |
48 |
73 |
c
|
NNS018 |
Nonsyndromic Paraganglioma |
35 |
74 |
|
ADR001 |
Adrenal Rest Tumor |
33 |
75 |
|
INT338 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency |
29 |
76 |
c
|
SCN052 |
Secondary Adrenal Insufficiency |
26 |
77 |
|
THY026 |
Thymus Gland Disease |
26 |
78 |
|
LCR006 |
Lacrimal Gland Adenoid Cystic Carcinoma |
25 |
79 |
|
SBM003 |
Submandibular Gland Disease |
21 |
80 |
|
APC009 |
Apocrine Gland Secretion, Variation in |
19 |
81 |
|
PRL002 |
Prolapse of Lacrimal Gland |
17 |
82 |
|
PNC049 |
Pancreatic Adenoma |
17 |
83 |
|
RRT002 |
Rare Tumor of Pancreas |
15 |
84 |
|
CHR002 |
Chronic Lacrimal Gland Enlargement |
12 |
85 |
|
THY053 |
Thyroid Hormone Plasma Membrane Transport Defect |
12 |
86 |
|
STS005 |
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas |
9 |
87 |
|
RRC013 |
Rare Carcinoma of Pancreas |
8 |
88 |
|
PNC054 |
Pancreatic Lipomatosis Duodenal Stenosis |
4 |
89 |
|
ADN030 |
Adnexal Spiradenoma/cylindroma of a Sweat Gland |
2 |
90 |
P
|
PRG013 |
Paraganglioma |
59 |
91 |
P
|
ACT010 |
Acth-Secreting Pituitary Adenoma |
48 |
92 |
c
|
PTT057 |
Pituitary Adenoma 4, Acth-Secreting |
47 |
93 |
|
CYT014 |
Cytochrome P450 Oxidoreductase Deficiency |
41 |
94 |
|
MBM001 |
Meibomian Cyst |
35 |
95 |
|
SYN046 |
Syndrome of Inappropriate Antidiuretic Hormone |
28 |
96 |
|
CHL075 |
Cheilitis Glandularis |
25 |
97 |
|
ATM061 |
Autoimmune Polyglandular Syndrome Type 3 |
21 |
98 |
c
|
THY130 |
Thyroid Hormone Metabolism, Abnormal, 2 |
16 |
99 |
|
INT381 |
Intraductal Tubulopapillary Neoplasm of Pancreas |
16 |
100 |
|
SBC022 |
Sebaceous Gland Hyperplasia, Familial Presenile |
13 |
101 |
P
|
NTR004 |
Neutropenia |
61 |
102 |
c
|
SVR003 |
Severe Congenital Neutropenia |
58 |
103 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
52 |
104 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
105 |
c
|
SVR107 |
Severe Congenital Neutropenia 3 |
44 |
106 |
c
|
SVR110 |
Severe Congenital Neutropenia 4 |
39 |
107 |
c
|
SVR106 |
Severe Congenital Neutropenia 5 |
37 |
108 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
37 |
109 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
110 |
c
|
ATS483 |
Autosomal Dominant Severe Congenital Neutropenia |
33 |
111 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
33 |
112 |
c
|
SVR104 |
Severe Congenital Neutropenia 7 |
31 |
113 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
30 |
114 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
29 |
115 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
27 |
116 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
117 |
c
|
SVR108 |
Severe Congenital Neutropenia 6 |
25 |
118 |
c
|
NTR056 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
23 |
119 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
120 |
|
SBL007 |
Sublingual Gland Adenoid Cystic Carcinoma |
22 |
121 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
20 |
122 |
|
PPL017 |
Papillary Hidradenoma |
19 |
123 |
|
GLN001 |
Glandular Tularemia |
18 |
124 |
c
|
ACQ053 |
Acquired Neutropenia |
17 |
125 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
126 |
c
|
SVR105 |
Severe Congenital Neutropenia 2 |
16 |
127 |
c
|
ELN001 |
Elane-Related Neutropenia |
13 |
128 |
|
PRT122 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease of |
13 |
129 |
|
CWP002 |
Cowper Gland Carcinoma |
7 |
130 |
c
|
GRW043 |
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 |
5 |
131 |
c
|
GRW044 |
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 |
5 |
132 |
|
LTT003 |
Littre Gland Carcinoma |
5 |
133 |
P
|
MLN007 |
Male Infertility |
59 |
134 |
P
|
ACN011 |
Acne |
59 |
135 |
|
MST005 |
Mastitis |
53 |
136 |
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
50 |
137 |
|
PPL001 |
Papillary Adenoma |
43 |
138 |
c
|
PRS050 |
Prss1-Related Hereditary Pancreatitis |
30 |
139 |
c
|
MLN078 |
Male Infertility Due to Acephalic Spermatozoa |
27 |
140 |
|
FXF002 |
Fox-Fordyce Disease |
26 |
141 |
c
|
BRS108 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 |
26 |
142 |
|
ISL004 |
Isolated Gonadotropin-Releasing Hormone Deficiency |
25 |
143 |
c
|
FML266 |
Female Infertility Due to Zona Pellucida Defect |
22 |
144 |
c
|
SPP012 |
Suppressor of Tumorigenicity 11 |
19 |
145 |
|
GLC107 |
Glucocorticoid Deficiency 5 |
19 |
146 |
|
PHC017 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
18 |
147 |
|
TRY003 |
Trypsinogen Deficiency |
18 |
148 |
|
IGG012 |
Igg4-Related Submandibular Gland Disease |
18 |
149 |
|
PNC050 |
Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus |
17 |
150 |
|
NRN039 |
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia |
14 |
151 |
c
|
FML343 |
Female Infertility Due to Oocyte Meiotic Arrest |
13 |
152 |
|
URT019 |
Urethral Gland Abscess |
12 |
153 |
|
ECT097 |
Ectodermal Dysplasia with Adrenal Cyst |
12 |
154 |
|
HYP785 |
Hypohidrosis with Abnormal Palmar Dermal Ridges |
12 |
155 |
|
PNC124 |
Pancreatitis, Sclerosing Cholangitis, and Sicca Complex |
12 |
156 |
|
PNL001 |
Pineal Gland Astrocytoma |
12 |
157 |
|
ADR055 |
Adrenocortical Unresponsiveness to Acth with Postreceptor Defect |
11 |
158 |
|
ANH005 |
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands |
11 |
159 |
c
|
MLN085 |
Male Infertility Due to Obstructive Azoospermia |
10 |
160 |
|
ADR050 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
10 |
161 |
c
|
ACN029 |
Acne, Adult |
10 |
162 |
|
ADR053 |
Adrenal Hypoplasia, Cytomegalic Type |
9 |
163 |
|
NR0002 |
Nr0b1-Related Adrenal Hypoplasia Congenita |
9 |
164 |
|
PNC022 |
Pancreatic Intraductal Papillary-Mucinous Adenoma |
9 |
165 |
|
PRP035 |
Prop1-Related Combined Pituitary Hormone Deficiency |
9 |
166 |
c
|
MLN081 |
Male Infertility Due to Sperm Motility Disorder |
9 |
167 |
|
RRP030 |
Rare Pancreatic Disease |
8 |
168 |
|
BNG007 |
Benign Lymphoepithelial Lesion of Salivary Gland |
7 |
169 |
c
|
RRM013 |
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder |
7 |
170 |
|
PNC055 |
Pancreatitis, Pediatric |
7 |
171 |
c
|
RRM015 |
Rare Male Infertility |
7 |
172 |
c
|
RRF009 |
Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder |
7 |
173 |
c
|
RRM010 |
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin |
6 |
174 |
c
|
MLN082 |
Male Infertility Due to Sperm Disorder |
6 |
175 |
P
|
RRF012 |
Rare Female Infertility |
6 |
176 |
|
RRT012 |
Rare Tumor of Salivary Glands |
6 |
177 |
c
|
RRF006 |
Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin |
6 |
178 |
c
|
CTS016 |
Catsper1-Related Nonsyndromic Male Infertility |
5 |
179 |
|
PNC125 |
Pancreatic Lymphoma, Familial |
5 |
180 |
c
|
RRF008 |
Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism |
5 |
181 |
c
|
MLN083 |
Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder |
5 |
182 |
c
|
MLN086 |
Male Infertility Due to Gonadal Dysgenesis |
5 |
183 |
c
|
MLN080 |
Male Infertility Due to Obstructive Azoospermia of Genetic Origin |
5 |
184 |
c
|
RRF003 |
Rare Female Infertility Due to Gonadal Dysgenesis |
4 |
185 |
c
|
RRF010 |
Rare Female Infertility Due to an Anomaly of Ovarian Function |
4 |
186 |
P
|
RRG009 |
Rare Genetic Adrenal Disease |
4 |
187 |
c
|
RRM009 |
Rare Male Infertility Due to Adrenal Disorder of Genetic Origin |
4 |
188 |
c
|
RRM011 |
Rare Male Infertility Due to Testicular Endocrine Disorder |
4 |
189 |
c
|
RRF004 |
Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin |
4 |
190 |
c
|
RRF002 |
Rare Female Infertility Due to an Implantation Defect |
4 |
191 |
c
|
RRF007 |
Rare Female Infertility Due to Oocyte Maturation Defect |
4 |
192 |
c
|
FML357 |
Female Infertility Due to an Implantation Defect of Genetic Origin |
4 |
193 |
c
|
SLV006 |
Salivary Gland Cancer, Adult |
3 |
194 |
c
|
RRF011 |
Rare Female Infertility Due to an Adrenal Disorder |
3 |
195 |
c
|
RRF005 |
Rare Female Infertility Due to Adrenal Disorder of Genetic Origin |
3 |
196 |
|
TMR021 |
Tumor of Endocrine Glands |
3 |
197 |
|
GNT052 |
Genetic Pancreatic Disease |
2 |
198 |
|
GNT093 |
Genetic Sebaceous Gland Anomaly |
2 |
199 |
c
|
TYP009 |
Type 2 Diabetes Mellitus |
91 |
200 |
|
CNN003 |
Conn's Syndrome |
83 |
201 |
|
WLS001 |
Wilson Disease |
72 |
202 |
|
ALP103 |
Alpha-1-Antitrypsin Deficiency |
70 |
203 |
|
LYS012 |
Lysosomal Acid Lipase Deficiency |
69 |
204 |
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
69 |
205 |
|
ABT001 |
Abetalipoproteinemia |
69 |
206 |
P
|
HLP001 |
Holoprosencephaly |
66 |
207 |
c
|
MCL013 |
Mucolipidosis Iv |
66 |
208 |
P
|
CRG003 |
Crigler-Najjar Syndrome, Type I |
65 |
209 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
65 |
210 |
|
LSC001 |
Lesch-Nyhan Syndrome |
64 |
211 |
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
212 |
|
HYP780 |
Hypoadrenocorticism, Familial |
63 |
213 |
|
ARG002 |
Argininosuccinic Aciduria |
62 |
214 |
P
|
CRN038 |
Carney Complex Variant |
62 |
215 |
P
|
KLL001 |
Kallmann Syndrome |
61 |
216 |
|
GLY010 |
Glycine Encephalopathy |
61 |
217 |
P
|
NPH012 |
Nephrotic Syndrome |
61 |
218 |
P
|
PRP029 |
Porphyria |
60 |
219 |
c
|
HRD031 |
Hereditary Paraganglioma-Pheochromocytoma Syndromes |
60 |
220 |
c
|
WLF013 |
Wolfram Syndrome 1 |
59 |
221 |
c
|
LPD033 |
Lipodystrophy, Congenital Generalized, Type 2 |
59 |
222 |
|
EPP024 |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
57 |
223 |
P
|
WLF004 |
Wolfram Syndrome |
57 |
224 |
|
ALP095 |
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
57 |
225 |
c
|
NPH055 |
Nephrotic Syndrome, Type 1 |
57 |
226 |
|
SMT008 |
Smith-Magenis Syndrome |
57 |
227 |
c
|
MCL046 |
Mucolipidosis Iii Alpha/beta |
57 |
228 |
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
56 |
229 |
|
STF001 |
Stiff-Person Syndrome |
56 |
230 |
c
|
HLP023 |
Holoprosencephaly 1 |
56 |
231 |
P
|
STS003 |
Sitosterolemia |
56 |
232 |
P
|
THY032 |
Thyroiditis |
55 |
233 |
|
HYP060 |
Hyperinsulinism |
55 |
234 |
c
|
LPD032 |
Lipodystrophy, Congenital Generalized, Type 1 |
54 |
235 |
|
FML026 |
Familial Lipoprotein Lipase Deficiency |
54 |
236 |
P
|
GRV001 |
Graves' Disease |
54 |
237 |
|
CRD229 |
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism |
53 |
238 |
P
|
HYP076 |
Hyperthyroidism |
53 |
239 |
c
|
NPH049 |
Nephrotic Syndrome, Type 2 |
53 |
240 |
c
|
ACT078 |
Acute Porphyria |
52 |
241 |
|
ACD008 |
Acid-Labile Subunit Deficiency |
52 |
242 |
c
|
HLP026 |
Holoprosencephaly 3 |
52 |
243 |
P
|
DSR090 |
Disorder of Sexual Development |
52 |
244 |
|
GTR002 |
Goiter |
51 |
245 |
|
HYP080 |
Hypogonadism |
51 |
246 |
|
WDH003 |
Woodhouse-Sakati Syndrome |
51 |
247 |
|
17B003 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
51 |
248 |
c
|
HLP025 |
Holoprosencephaly 9 |
50 |
249 |
|
HDR003 |
Hidradenitis |
50 |
250 |
c
|
NPH102 |
Nephrotic Syndrome, Type 14 |
50 |
251 |
P
|
MCL001 |
Mucolipidosis |
50 |
252 |
c
|
SCN007 |
Secondary Hyperparathyroidism |
50 |
253 |
c
|
MCL016 |
Mucolipidosis Iii Gamma |
49 |
254 |
|
IRN003 |
Iron Overload |
49 |
255 |
|
HYP134 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
49 |
256 |
|
CNZ001 |
Coenzyme Q10 Deficiency Disease |
48 |
257 |
|
THY128 |
Thyroid Tumor |
48 |
258 |
c
|
STS010 |
Sitosterolemia 1 |
48 |
259 |
P
|
GND004 |
Gonadal Dysgenesis |
48 |
260 |
P
|
BRS053 |
Breast Fibroadenoma |
48 |
261 |
c
|
CRG004 |
Crigler-Najjar Syndrome, Type Ii |
48 |
262 |
|
LBR025 |
Lobar Holoprosencephaly |
47 |
263 |
|
GYN001 |
Gynecomastia |
47 |
264 |
c
|
HLP027 |
Holoprosencephaly 7 |
47 |
265 |
c
|
FML015 |
Familial Nephrotic Syndrome |
47 |
266 |
|
HYP043 |
Hyperandrogenism |
47 |
267 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
46 |
268 |
|
ANV001 |
Anovulation |
46 |
269 |
|
CTN011 |
Cutaneous Porphyria |
46 |
270 |
P
|
OVR076 |
Ovarian Dysgenesis 2 |
46 |
271 |
c
|
SBC007 |
Subacute Thyroiditis |
46 |
272 |
c
|
HLP016 |
Holoprosencephaly 11 |
45 |
273 |
|
PSD009 |
Pseudohermaphroditism |
45 |
274 |
|
DBT090 |
Diabetes and Deafness, Maternally Inherited |
45 |
275 |
|
NDL007 |
Nodular Goiter |
45 |
276 |
c
|
HLP029 |
Holoprosencephaly 4 |
44 |
277 |
c
|
46X030 |
46,xy Sex Reversal 9 |
44 |
278 |
c
|
NPH072 |
Nephrotic Syndrome, Type 7 |
44 |
279 |
P
|
END084 |
Endocrine System Disease |
43 |
280 |
|
MYX004 |
Myxedema |
43 |
281 |
|
DYS101 |
Dysgerminoma |
43 |
282 |
c
|
CRN243 |
Carney Complex, Type 1 |
42 |
283 |
c
|
46X079 |
46,xy Sex Reversal 11 |
42 |
284 |
c
|
NPH054 |
Nephrotic Syndrome, Type 3 |
42 |
285 |
c
|
NPH076 |
Nephrotic Syndrome, Type 10 |
42 |
286 |
c
|
WLF009 |
Wolfram Syndrome 2 |
41 |
287 |
|
ETH004 |
Euthyroid Sick Syndrome |
41 |
288 |
c
|
HLP028 |
Holoprosencephaly 5 |
40 |
289 |
c
|
OVR075 |
Ovarian Dysgenesis 1 |
40 |
290 |
P
|
MLT008 |
Multinodular Goiter |
40 |
291 |
P
|
STR021 |
Struma Ovarii |
39 |
292 |
|
CHL045 |
Choline Deficiency Disease |
39 |
293 |
|
CLS049 |
Classic Phenylketonuria |
39 |
294 |
c
|
NPH047 |
Nephrotic Syndrome, Type 4 |
39 |
295 |
c
|
HYP549 |
Hypogonadotropic Hypogonadism 5 with or Without Anosmia |
39 |
296 |
c
|
46X002 |
46 Xx Gonadal Dysgenesis |
38 |
297 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
38 |
298 |
c
|
HLP024 |
Holoprosencephaly 2 |
37 |
299 |
c
|
NPH117 |
Nephrotic Syndrome, Type 24 |
37 |
300 |
c
|
NPH108 |
Nephrotic Syndrome, Type 20 |
37 |
301 |
c
|
NPH074 |
Nephrotic Syndrome, Type 9 |
36 |
302 |
|
HRM002 |
Hermaphroditism |
36 |
303 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
35 |
304 |
|
MLR009 |
Miliaria |
35 |
305 |
c
|
HYP531 |
Hypogonadotropic Hypogonadism 4 with or Without Anosmia |
35 |
306 |
c
|
HYP562 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
34 |
307 |
c
|
FML067 |
Familial Hyperthyroidism Due to Mutations in Tsh Receptor |
34 |
308 |
|
PYR016 |
Pyridoxine Deficiency |
34 |
309 |
|
PLM011 |
Plummer's Disease |
34 |
310 |
|
HYP524 |
Hypoinsulinemic Hypoglycemia with Hemihypertrophy |
34 |
311 |
|
ADN075 |
Adenomyoma |
34 |
312 |
|
ISL161 |
Isolated Permanent Neonatal Diabetes Mellitus |
34 |
313 |
c
|
PRM368 |
Premature Ovarian Failure 19 |
33 |
314 |
|
PST014 |
Postsurgical Hypothyroidism |
33 |
315 |
|
ATH010 |
Athyreosis |
33 |
316 |
c
|
46X047 |
46,xy Sex Reversal 7 |
32 |
317 |
c
|
TYP027 |
Type 1 Diabetes Mellitus 10 |
32 |
318 |
|
HYP070 |
Hyperpituitarism |
32 |
319 |
c
|
HYP565 |
Hypogonadotropic Hypogonadism 3 with or Without Anosmia |
32 |
320 |
|
THY001 |
Thyroid Crisis |
32 |
321 |
c
|
NPH111 |
Nephrotic Syndrome, Type 21 |
31 |
322 |
|
HYP029 |
Hyperthyroxinemia |
31 |
323 |
c
|
NPH115 |
Nephrotic Syndrome, Type 23 |
31 |
324 |
c
|
PRC047 |
Precocious Puberty, Central, 1 |
30 |
325 |
c
|
HLP021 |
Holoprosencephaly 6 |
30 |
326 |
c
|
HYP523 |
Hypogonadotropic Hypogonadism 14 with or Without Anosmia |
30 |
327 |
|
PTT010 |
Pituitary Infarct |
30 |
328 |
|
SPR068 |
Sporadic Pheochromocytoma/secreting Paraganglioma |
30 |
329 |
|
SPP005 |
Suppurative Thyroiditis |
29 |
330 |
|
OVR009 |
Ovarian Gonadoblastoma |
29 |
331 |
c
|
HYP511 |
Hypogonadotropic Hypogonadism 15 with or Without Anosmia |
29 |
332 |
|
NNT003 |
Neonatal Thyrotoxicosis |
29 |
333 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
28 |
334 |
c
|
HYP817 |
Hypogonadotropic Hypogonadism 21 with or Without Anosmia |
28 |
335 |
|
OVR017 |
Ovarian Cystic Teratoma |
28 |
336 |
c
|
NPH103 |
Nephrotic Syndrome, Type 15 |
27 |
337 |
c
|
ACT031 |
Acute Salpingo-Oophoritis |
27 |
338 |
c
|
ATM067 |
Autoimmune Polyendocrinopathy Type 3 |
27 |
339 |
c
|
NPH114 |
Nephrotic Syndrome, Type 22 |
27 |
340 |
|
TXC004 |
Toxic Diffuse Goiter |
27 |
341 |
c
|
STS011 |
Sitosterolemia 2 |
27 |
342 |
c
|
ACT053 |
Acute Thyroiditis |
26 |
343 |
|
HYP490 |
Hyperinsulinism Due to Hnf1a Deficiency |
26 |
344 |
c
|
CNT101 |
Central Congenital Hypothyroidism |
26 |
345 |
c
|
NPH096 |
Nephrotic Syndrome, Type 12 |
26 |
346 |
c
|
NPH073 |
Nephrotic Syndrome, Type 8 |
26 |
347 |
c
|
NPH095 |
Nephrotic Syndrome, Type 11 |
26 |
348 |
c
|
TYP030 |
Type 1 Diabetes Mellitus 4 |
26 |
349 |
|
PRD041 |
Periodic Fever, Menstrual Cycle-Dependent |
25 |
350 |
|
SBS002 |
Substernal Goiter |
25 |
351 |
|
46X054 |
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs |
25 |
352 |
c
|
NPH105 |
Nephrotic Syndrome, Type 17 |
25 |
353 |
c
|
HYP546 |
Hypogonadotropic Hypogonadism 20 with or Without Anosmia |
25 |
354 |
|
MCR014 |
Microcystic Adenoma |
25 |
355 |
c
|
OVR107 |
Ovarian Dysgenesis 4 |
25 |
356 |
|
PTT016 |
Patterson Pseudoleprechaunism Syndrome |
24 |
357 |
c
|
NPH070 |
Nephrotic Syndrome, Type 6 |
24 |
358 |
|
ADN064 |
Adenohypophysitis |
24 |
359 |
c
|
NPH106 |
Nephrotic Syndrome, Type 18 |
24 |
360 |
c
|
HYP857 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
24 |
361 |
|
ENC002 |
Eunuchism |
24 |
362 |
c
|
46X058 |
46,xy Sex Reversal 10 |
24 |
363 |
c
|
PRM349 |
Premature Ovarian Failure 18 |
23 |
364 |
c
|
ATM014 |
Autoimmune Disease of Endocrine System |
23 |
365 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
23 |
366 |
|
IDN001 |
Iodine Hypothyroidism |
23 |
367 |
|
OVR001 |
Ovarian Stromal Hyperthecosis |
23 |
368 |
|
DYS008 |
Dyshormonogenic Goiter |
23 |
369 |
c
|
NPH093 |
Nephrotic Syndrome, Type 13 |
22 |
370 |
c
|
NPH107 |
Nephrotic Syndrome, Type 19 |
22 |
371 |
|
THY004 |
Thyroid Angiosarcoma |
22 |
372 |
c
|
46X080 |
46,xx Sex Reversal 5 |
22 |
373 |
c
|
OVR102 |
Ovarian Dysgenesis 3 |
22 |
374 |
|
LNG018 |
Lingual Goiter |
22 |
375 |
c
|
OVR119 |
Ovarian Dysgenesis 7 |
22 |
376 |
c
|
HLP022 |
Holoprosencephaly 8 |
21 |
377 |
c
|
NPH104 |
Nephrotic Syndrome, Type 16 |
21 |
378 |
c
|
OVR127 |
Ovarian Dysgenesis 9 |
21 |
379 |
|
THY021 |
Thyroid Malformation |
20 |
380 |
|
BNG086 |
Bangstad Syndrome |
20 |
381 |
c
|
OVR115 |
Ovarian Dysgenesis 5 |
20 |
382 |
P
|
BRS100 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 |
20 |
383 |
|
GRN002 |
Granulomatous Orchitis |
20 |
384 |
c
|
HLP034 |
Holoprosencephaly 14 |
20 |
385 |
|
MDL001 |
Medulloadrenal Hyperfunction |
20 |
386 |
c
|
ACQ043 |
Acquired Lipodystrophy |
19 |
387 |
c
|
OVR120 |
Ovarian Dysgenesis 8 |
19 |
388 |
c
|
MLT120 |
Multiple Fibroadenomas of the Breast |
19 |
389 |
c
|
NPH119 |
Nephrotic Syndrome, Type 26 |
19 |
390 |
c
|
OVR118 |
Ovarian Dysgenesis 6 |
18 |
391 |
|
PRM331 |
Primary Hypophysitis |
18 |
392 |
c
|
46X060 |
46,xx Disorder of Sex Development |
18 |
393 |
|
FRM001 |
Freemartinism |
18 |
394 |
c
|
OVR128 |
Ovarian Dysgenesis 10 |
18 |
395 |
|
ABN002 |
Abnormality of Glucagon Secretion |
18 |
396 |
|
HYP667 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
17 |
397 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
17 |
398 |
c
|
CRN298 |
Carney Complex, Type 2 |
17 |
399 |
c
|
KLL005 |
Kallmann Syndrome 3 |
17 |
400 |
c
|
TYP040 |
Type 1 Diabetes Mellitus 18 |
17 |
401 |
c
|
KLL007 |
Kallmann Syndrome 5 |
17 |
402 |
P
|
OVR053 |
Ovarian Mucinous Adenofibroma |
16 |
403 |
|
MCR279 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
16 |
404 |
|
XSM001 |
X Small Rings |
16 |
405 |
c
|
GTR013 |
Goiter, Multinodular 2 |
15 |
406 |
c
|
GRV009 |
Graves Disease 2 |
15 |
407 |
|
GND006 |
Gonadal Dysgenesis Xy Type Associated Anomalies |
15 |
408 |
|
TRC120 |
Tricarboxylic Acid Cycle, Defect of |
15 |
409 |
c
|
KLL008 |
Kallmann Syndrome 6 |
15 |
410 |
|
PRT021 |
Parathyroid Transitional Clear Cell Adenoma |
14 |
411 |
|
HYP660 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
14 |
412 |
|
INH007 |
Inherited Thyroxine-Binding Globulin Deficiency |
14 |
413 |
|
HYP482 |
Hyperinsulinism Due to Ucp2 Deficiency |
14 |
414 |
c
|
GTR014 |
Goiter, Multinodular 3 |
14 |
415 |
P
|
OVR045 |
Ovarian Clear Cell Adenofibroma |
13 |
416 |
c
|
KLL006 |
Kallmann Syndrome 4 |
13 |
417 |
|
CLR006 |
Clear Cell Cystadenofibroma |
13 |
418 |
|
OLG024 |
Oligosaccharidosis |
12 |
419 |
|
GNT039 |
Genetic Transient Congenital Hypothyroidism |
12 |
420 |
|
IDP061 |
Idiopathic Congenital Hypothyroidism |
12 |
421 |
|
HYP485 |
Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency |
12 |
422 |
|
PNN006 |
Panniculitis-Induced Localized Lipodystrophy |
11 |
423 |
c
|
ATS423 |
Autosomal Dominant Wolfram Syndrome |
10 |
424 |
|
PRM156 |
Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome |
10 |
425 |
c
|
SCN039 |
Secondary Central Precocious Puberty |
10 |
426 |
|
SHR095 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
10 |
427 |
|
CRB213 |
Cerebral Organic Aciduria |
9 |
428 |
|
TBR005 |
Tuberculous Oophoritis |
9 |
429 |
|
MLT106 |
Multiple Paragangliomas Associated with Polycythemia |
9 |
430 |
c
|
RRH008 |
Rare Hyperthyroidism |
8 |
431 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
8 |
432 |
c
|
SCN062 |
Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion |
8 |
433 |
c
|
DSR045 |
Disorder of Protein N-Glycosylation |
8 |
434 |
|
RDL003 |
Riedel's Fibrosing Thyroiditis |
7 |
435 |
c
|
46X063 |
46,xy Disorder of Sex Development Due to Impaired Androgen Production |
7 |
436 |
|
DZX004 |
Diazoxide-Sensitive Diffuse Hyperinsulinism |
7 |
437 |
|
OVR032 |
Ovarian Surface Papilloma |
6 |
438 |
|
PST024 |
Post-Surgical Hypoinsulinemia |
6 |
439 |
|
HYP665 |
Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome |
6 |
440 |
c
|
TRN076 |
Transient Congenital Hypothyroidism Due to Neonatal Factor |
5 |
441 |
c
|
TRN075 |
Transient Congenital Hypothyroidism Due to Maternal Factor |
5 |
442 |
|
HYP675 |
Hypothalamic Adipsic Hypernatraemia Syndrome |
5 |
443 |
|
OVR007 |
Ovarian Endometrioid Cystadenoma |
5 |
444 |
c
|
PRM366 |
Primary Ovarian Insufficiency 17 |
5 |
445 |
c
|
PRM362 |
Primary Ovarian Insufficiency 13 |
5 |
446 |
|
DSR051 |
Disorder of Carbohydrate Absorption and Transport |
4 |
447 |
|
DSR039 |
Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport |
4 |
448 |
|
MTC188 |
Mitochondrial Membrane Transport Disorder |
4 |
449 |
P
|
DSR042 |
Disorder of Protein O-Glycosylation |
4 |
450 |
c
|
PRM353 |
Primary Ovarian Insufficiency 4 |
4 |
451 |
c
|
PRM352 |
Primary Ovarian Insufficiency 3 |
4 |
452 |
c
|
PRM365 |
Primary Ovarian Insufficiency 16 |
4 |
453 |
c
|
PRM364 |
Primary Ovarian Insufficiency 15 |
4 |
454 |
c
|
PRM359 |
Primary Ovarian Insufficiency 10 |
4 |
455 |
c
|
PRM360 |
Primary Ovarian Insufficiency 11 |
4 |
456 |
c
|
PRM361 |
Primary Ovarian Insufficiency 12 |
4 |
457 |
c
|
46X062 |
46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect |
4 |
458 |
c
|
46X074 |
46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect |
4 |
459 |
|
CLS056 |
Classic Organic Aciduria |
4 |
460 |
|
THY002 |
Thyrocalcitonin Secretion Disease |
4 |
461 |
c
|
46X071 |
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
3 |
462 |
c
|
46X067 |
46,xx Disorder of Gonadal Development |
3 |
463 |
|
ADR054 |
Adrenocortical Carcinoma, Hereditary |
45 |
464 |
|
PRT009 |
Parotid Gland Cancer |
37 |
465 |
|
SWT002 |
Sweat Gland Cancer |
41 |
466 |
c
|
THY102 |
Thyroid Cancer, Nonmedullary, 2 |
58 |
467 |
c
|
THY101 |
Thyroid Cancer, Nonmedullary, 5 |
19 |
468 |
c
|
THY100 |
Thyroid Cancer, Nonmedullary, 4 |
18 |
469 |
c
|
THY117 |
Thyroid Cancer, Nonmedullary, 3 |
14 |
470 |
P
|
FML354 |
Familial Nonmedullary Thyroid Carcinoma |
14 |
471 |
|
PNL014 |
Pineal Gland Cancer |
40 |
472 |
P
|
SLV026 |
Salivary Gland Carcinoma |
50 |
473 |
|
ANL012 |
Anal Gland Adenocarcinoma |
22 |
474 |
|
BRT015 |
Bartholin's Gland Adenocarcinoma |
20 |
475 |
|
MXD003 |
Mixed Lacrimal Gland Cancer |
31 |
476 |
|
SBM004 |
Submandibular Gland Cancer |
24 |
477 |
|
APC004 |
Apocrine Adenocarcinoma |
43 |
478 |
|
MLN047 |
Melanoma-Pancreatic Cancer Syndrome |
31 |
479 |
|
BRT016 |
Bartholin's Gland Carcinoma |
26 |
480 |
c
|
PNC132 |
Pancreatic Cancer 5 |
24 |
481 |
|
SBC011 |
Sebaceous Adenocarcinoma |
44 |
482 |
|
SLD011 |
Solid Pseudopapillary Carcinoma of Pancreas |
30 |
483 |
|
ACN026 |
Acinar Cell Carcinoma of Pancreas |
29 |
484 |
c
|
PNC094 |
Pancreatic Cancer 1 |
27 |
485 |
c
|
PNC111 |
Pancreatic Cancer 2 |
25 |
486 |
c
|
PNC103 |
Pancreatic Cancer 4 |
25 |
487 |
c
|
PNC095 |
Pancreatic Cancer 3 |
22 |
488 |
P
|
NPH007 |
Nephrogenic Diabetes Insipidus |
61 |
489 |
|
LYM021 |
Lymphadenitis |
57 |
490 |
c
|
HRD221 |
Hereditary Nephrogenic Diabetes Insipidus |
15 |
491 |
c
|
GRW042 |
Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant |
21 |
492 |
c
|
PRG018 |
Paragangliomas 1 |
61 |
493 |
c
|
PRG021 |
Paragangliomas 4 |
46 |
494 |
c
|
PRG020 |
Paragangliomas 3 |
39 |
495 |
c
|
PRG019 |
Paragangliomas 2 |
32 |
496 |
c
|
PRG094 |
Paragangliomas 5 |
30 |
497 |
|
BRT008 |
Bartholin's Gland Adenoid Cystic Carcinoma |
28 |
498 |
|
PRT100 |
Parotid Gland Adenoid Cystic Carcinoma |
23 |
499 |
c
|
PRG138 |
Paragangliomas 7 |
21 |
500 |
|
LCR009 |
Lacrimal Gland Adenocarcinoma |
21 |
501 |
c
|
PRG137 |
Paragangliomas 6 |
21 |
502 |
|
SLV014 |
Salivary Gland Type Cancer of the Breast |
16 |
503 |
|
BRT010 |
Bartholin's Gland Transitional Cell Carcinoma |
9 |
504 |
|
BRT007 |
Bartholin's Gland Squamous Cell Carcinoma |
8 |
505 |
|
BRT003 |
Bartholin's Gland Small Cell Carcinoma |
7 |
506 |
P
|
PNB001 |
Pineoblastoma |
53 |
507 |
|
MCP006 |
Mucoepidermoid Carcinoma |
52 |
508 |
|
GST051 |
Gastrointestinal Tuberculosis |
38 |
509 |
|
SBC018 |
Sebaceous Gland Neoplasm |
34 |
510 |
|
LCR002 |
Lacrimal Gland Mucoepidermoid Carcinoma |
21 |
511 |
c
|
ADL025 |
Adult Pineoblastoma |
19 |
512 |
|
HYP746 |
Hypersecretion of Adrenal Androgens, Familial |
12 |
513 |
|
ANL002 |
Anal Gland Neoplasm |
10 |
514 |
|
CRC037 |
Carcinoma of Esophagus, Salivary Gland Type |
8 |
515 |
|
RRP011 |
Rare Epithelial Tumor of Pancreas |
7 |
516 |
|
ADR038 |
Adermatoglyphia |
52 |
517 |
|
MLG048 |
Malignant Acrospiroma |
37 |
518 |
|
ADN018 |
Adenoma |
59 |
519 |
|
SLV012 |
Salivary Gland Adenoid Cystic Carcinoma |
51 |
520 |
|
SLV032 |
Salivary Gland Mucinous Adenocarcinoma |
22 |
521 |
|
VST005 |
Vestibular Gland Benign Neoplasm |
21 |
522 |
|
MRT009 |
Martinez-Frias Syndrome |
20 |
523 |
|
HRN030 |
Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome |
10 |
524 |
|
MLG134 |
Malignant Epithelial Tumor of Salivary Glands |
9 |
525 |
|
HYP848 |
Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome |
9 |
526 |
P
|
BNG096 |
Benign Exocrine Pancreas Neoplasm |
5 |
527 |
|
ESP025 |
Esophagus Adenocarcinoma |
63 |
528 |
|
CLS005 |
Clouston Syndrome |
60 |
529 |
P
|
ECT006 |
Ectodermal Dysplasia |
56 |
530 |
|
ACN001 |
Acinar Cell Carcinoma |
52 |
531 |
|
CYS014 |
Cystadenocarcinoma |
50 |
532 |
c
|
DBT108 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
49 |
533 |
|
MXD023 |
Mixed Cell Type Cancer |
48 |
534 |
|
ADN009 |
Adenosquamous Carcinoma |
46 |
535 |
P
|
HYP347 |
Hypotonia-Cystinuria Syndrome |
43 |
536 |
|
ANL011 |
Anal Canal Carcinoma |
40 |
537 |
|
SBC009 |
Sebaceous Adenoma |
35 |
538 |
|
ENT006 |
Enterokinase Deficiency |
34 |
539 |
|
GLC105 |
Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency |
33 |
540 |
|
APC005 |
Apocrine Sweat Gland Neoplasm |
33 |
541 |
|
ADN014 |
Adenomatoid Tumor |
31 |
542 |
c
|
SVR109 |
Severe Congenital Neutropenia 8 |
28 |
543 |
|
ECC001 |
Eccrine Papillary Adenocarcinoma |
26 |
544 |
c
|
HYP867 |
Hypoparathyroidism, Familial Isolated, 2 |
23 |
545 |
|
ACN007 |
Acinar Cell Cystadenocarcinoma |
21 |
546 |
c
|
ECT114 |
Ectodermal Dysplasia 10b |
20 |
547 |
c
|
ECT117 |
Ectodermal Dysplasia 14 |
14 |
548 |
|
PLT032 |
Platelet Responsiveness to Adrenaline, Depressed |
7 |
549 |
c
|
HYP851 |
Hypotonia-Cystinuria Type 1 Syndrome |
7 |
550 |
|
FRS005 |
Fraser Jequier Chen Syndrome |
6 |
551 |
|
VSC062 |
Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen |
6 |
552 |
c
|
RRM012 |
Rare Male Infertility Due to Adrenal Disorder |
5 |
553 |
|
BLN023 |
Bile and Pancreatic Ducts, Complete Absence of |
4 |
554 |
P
|
OVR042 |
Ovarian Cancer |
89 |
555 |
c
|
TYP008 |
Type 1 Diabetes Mellitus |
79 |
556 |
c
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
77 |
557 |
|
ADR007 |
Adrenoleukodystrophy |
75 |
558 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
74 |
559 |
P
|
MYT021 |
Myotonic Dystrophy 1 |
74 |
560 |
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
72 |
561 |
P
|
MTC003 |
Metachromatic Leukodystrophy |
72 |
562 |
c
|
FML021 |
Familial Hypercholesterolemia |
69 |
563 |
P
|
MPL001 |
Maple Syrup Urine Disease |
69 |
564 |
P
|
SHW006 |
Shwachman-Diamond Syndrome 1 |
68 |
565 |
P
|
HYP086 |
Hypothyroidism |
68 |
566 |
P
|
HYP802 |
Hypocalcemia, Autosomal Dominant 1 |
68 |
567 |
P
|
PRP003 |
Porphyria Cutanea Tarda |
68 |
568 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
67 |
569 |
|
PRT010 |
Parathyroid Carcinoma |
67 |
570 |
P
|
DBT009 |
Diabetes Mellitus |
67 |
571 |
|
RCK004 |
Rickets |
66 |
572 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
65 |
573 |
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
65 |
574 |
c
|
OVR114 |
Ovarian Cancer 1 |
65 |
575 |
c
|
MLT159 |
Multiple Endocrine Neoplasia, Type Iib |
64 |
576 |
P
|
ADN016 |
Adenocarcinoma |
64 |
577 |
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
64 |
578 |
|
CHN016 |
Cohen Syndrome |
64 |
579 |
|
TNG002 |
Tangier Disease |
64 |
580 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
63 |
581 |
c
|
VTM027 |
Vitamin D-Dependent Rickets, Type 2a |
61 |
582 |
|
DNH001 |
Donohue Syndrome |
61 |
583 |
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
60 |
584 |
c
|
PRM093 |
Premature Ovarian Failure 7 |
59 |
585 |
c
|
PRM196 |
Premature Ovarian Failure 1 |
59 |
586 |
|
CHR072 |
Chordoma |
59 |
587 |
|
PRM013 |
Premature Menopause |
59 |
588 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
59 |
589 |
|
PYR041 |
Pyruvate Kinase Deficiency of Red Cells |
58 |
590 |
c
|
MYT020 |
Myotonic Dystrophy 2 |
57 |
591 |
|
NRN004 |
Neuroendocrine Tumor |
56 |
592 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
56 |
593 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
56 |
594 |
c
|
MTR020 |
Maturity-Onset Diabetes of the Young, Type 3 |
56 |
595 |
|
KRT002 |
Keratomalacia |
56 |
596 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
55 |
597 |
|
HYP732 |
Hyperalphalipoproteinemia 1 |
55 |
598 |
P
|
HYP050 |
Hyperinsulinemic Hypoglycemia |
55 |
599 |
c
|
HYP840 |
Hypercholesterolemia, Familial, 4 |
54 |
600 |
c
|
FML035 |
Familial Hyperlipidemia |
54 |
601 |
c
|
MTR019 |
Maturity-Onset Diabetes of the Young, Type 2 |
54 |
602 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
54 |
603 |
P
|
NNT058 |
Neonatal Diabetes |
53 |
604 |
|
LPT006 |
Leptin Receptor Deficiency |
53 |
605 |
|
PTT009 |
Pituitary Gland Disease |
53 |
606 |
|
HMZ003 |
Homozygous Familial Hypercholesterolemia |
52 |
607 |
|
SCH071 |
Schaaf-Yang Syndrome |
52 |
608 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
52 |
609 |
c
|
LPD021 |
Lipodystrophy, Familial Partial, Type 3 |
52 |
610 |
|
HYP741 |
Hyperparathyroidism 2 with Jaw Tumors |
51 |
611 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
51 |
612 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
51 |
613 |
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
50 |
614 |
c
|
HYP837 |
Hypercholesterolemia, Familial, 2 |
50 |
615 |
c
|
INH020 |
Inherited Metabolic Disorder |
50 |
616 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
50 |
617 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
50 |
618 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
50 |
619 |
c
|
46X049 |
46,xy Sex Reversal 2 |
49 |
620 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
49 |
621 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
49 |
622 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
49 |
623 |
|
ADR041 |
Adrenal Cortical Adenoma |
49 |
624 |
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
625 |
|
PTT041 |
Pituitary Stalk Interruption Syndrome |
49 |
626 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
49 |
627 |
c
|
ATM092 |
Autoimmune Polyendocrine Syndrome, Type Ii |
48 |
628 |
P
|
HYP058 |
Hypervitaminosis a |
48 |
629 |
c
|
TYP031 |
Type 1 Diabetes Mellitus 5 |
48 |
630 |
|
CRT039 |
Corticosterone Methyloxidase Type I Deficiency |
48 |
631 |
c
|
ATM002 |
Autoimmune Polyendocrine Syndrome Type 1 |
47 |
632 |
|
INP001 |
Inappropriate Adh Syndrome |
47 |
633 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
634 |
|
GTR011 |
Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors |
47 |
635 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
47 |
636 |
|
GLC036 |
Glucagonoma |
47 |
637 |
|
TST044 |
Testicular Torsion |
47 |
638 |
|
PRT030 |
Parathyroid Gland Disease |
46 |
639 |
c
|
HYP243 |
Hyperparathyroidism 1 |
46 |
640 |
|
PNC034 |
Pancreas Disease |
46 |
641 |
c
|
TYP028 |
Type 1 Diabetes Mellitus 2 |
46 |
642 |
|
NLS001 |
Nelson Syndrome |
46 |
643 |
|
MDL020 |
Midline Interhemispheric Variant of Holoprosencephaly |
46 |
644 |
|
PTT003 |
Pituitary-Dependent Cushing's Disease |
46 |
645 |
|
WRN003 |
Wernicke Encephalopathy |
45 |
646 |
|
THY030 |
Thyroid Gland Disease |
45 |
647 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
45 |
648 |
|
HYP791 |
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate |
45 |
649 |
|
ECT093 |
Ectopic Cushing Syndrome |
45 |
650 |
|
47X004 |
47 Xxx Syndrome |
44 |
651 |
c
|
MTR021 |
Maturity-Onset Diabetes of the Young, Type 4 |
44 |
652 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
44 |
653 |
c
|
LPD034 |
Lipodystrophy, Familial Partial, Type 4 |
44 |
654 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
44 |
655 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
44 |
656 |
|
ORC001 |
Orchitis |
44 |
657 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
43 |
658 |
|
EXC002 |
Exocrine Pancreatic Insufficiency |
43 |
659 |
|
END011 |
Endometriosis of Ovary |
43 |
660 |
|
FNC007 |
Functioning Pituitary Adenoma |
43 |
661 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
43 |
662 |
|
GRW007 |
Growth Hormone Deficiency |
43 |
663 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
43 |
664 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
43 |
665 |
|
TST015 |
Testicular Disease |
42 |
666 |
|
46X012 |
46,xy Partial Gonadal Dysgenesis |
42 |
667 |
c
|
ADN012 |
Adenocarcinoma in Situ |
42 |
668 |
c
|
HRD039 |
Hereditary Amyloidosis |
42 |
669 |
c
|
HYP272 |
Hypercholesterolemia, Familial, 3 |
42 |
670 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
42 |
671 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
41 |
672 |
|
ACT257 |
Acute Necrotizing Pancreatitis |
41 |
673 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
41 |
674 |
P
|
VTM036 |
Vitamin D-Dependent Rickets |
41 |
675 |
c
|
MTR044 |
Maturity-Onset Diabetes of the Young, Type 10 |
41 |
676 |
c
|
MTR024 |
Maturity-Onset Diabetes of the Young, Type 7 |
41 |
677 |
|
HYP085 |
Hypothalamic Disease |
40 |
678 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
40 |
679 |
c
|
MTR075 |
Maturity-Onset Diabetes of the Young, Type 13 |
40 |
680 |
|
ADR040 |
Adrenal Gland Pheochromocytoma |
40 |
681 |
|
END028 |
Endemic Goiter |
40 |
682 |
P
|
PRT026 |
Parotitis |
40 |
683 |
c
|
MTR039 |
Maturity-Onset Diabetes of the Young, Type 11 |
40 |
684 |
|
CRT046 |
Corticosteroid-Binding Globulin Deficiency |
40 |
685 |
|
EST004 |
Estrogen Excess |
40 |
686 |
c
|
MTR023 |
Maturity-Onset Diabetes of the Young, Type 6 |
40 |
687 |
c
|
FML353 |
Familial Ovarian Cancer |
40 |
688 |
|
NRM018 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
39 |
689 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
39 |
690 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
39 |
691 |
c
|
HYP057 |
Hypervitaminosis D |
39 |
692 |
c
|
46X017 |
46,xy Sex Reversal 6 |
38 |
693 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
38 |
694 |
|
NNT010 |
Nontoxic Goiter |
38 |
695 |
|
OVR034 |
Ovarian Clear Cell Adenocarcinoma |
38 |
696 |
|
BTT013 |
Beta-Thalassemia, Dominant Inclusion Body Type |
38 |
697 |
|
WTR001 |
Waterhouse-Friderichsen Syndrome |
37 |
698 |
c
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
37 |
699 |
|
THY009 |
Thyroid Lymphoma |
37 |
700 |
|
FLL031 |
Follicular Adenoma |
37 |
701 |
|
ALC005 |
Alcoholic Pancreatitis |
37 |
702 |
|
SPT016 |
Septopreoptic Holoprosencephaly |
37 |
703 |
P
|
DBT110 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
37 |
704 |
c
|
PRT134 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
36 |
705 |
c
|
TYP036 |
Type 1 Diabetes Mellitus 12 |
36 |
706 |
c
|
THY063 |
Thyroid Dyshormonogenesis 4 |
36 |
707 |
c
|
BRD053 |
Bardet-Biedl Syndrome 22 |
36 |
708 |
c
|
HYP552 |
Hypogonadotropic Hypogonadism 6 with or Without Anosmia |
36 |
709 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
36 |
710 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
36 |
711 |
|
48X002 |
48,xxxy Syndrome |
35 |
712 |
c
|
MTR026 |
Maturity-Onset Diabetes of the Young, Type 9 |
35 |
713 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
35 |
714 |
P
|
HYP120 |
Hypoaldosteronism |
35 |
715 |
c
|
46X081 |
46,xx Sex Reversal |
35 |
716 |
|
DRM005 |
Dermoid Cyst of Ovary |
34 |
717 |
|
LTM002 |
Luteoma |
34 |
718 |
c
|
MTR074 |
Maturity-Onset Diabetes of the Young, Type 14 |
33 |
719 |
c
|
PRC046 |
Precocious Puberty, Central, 2 |
33 |
720 |
|
CHR034 |
Chromophobe Adenoma |
33 |
721 |
P
|
ACT244 |
Acth-Independent Cushing Syndrome |
33 |
722 |
|
ADR009 |
Adrenal Cortex Disease |
33 |
723 |
c
|
TYP034 |
Type 1 Diabetes Mellitus 8 |
33 |
724 |
c
|
PTT061 |
Pituitary Adenoma 3, Multiple Types |
32 |
725 |
c
|
FML324 |
Familial Porphyria Cutanea Tarda |
32 |
726 |
|
MMM007 |
Mammary Analogue Secretory Carcinoma |
32 |
727 |
|
OVR041 |
Ovarian Benign Neoplasm |
32 |
728 |
|
OVR048 |
Ovarian Cystadenoma |
32 |
729 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
32 |
730 |
c
|
HYP564 |
Hypocalcemia, Autosomal Dominant 2 |
32 |
731 |
|
ADR023 |
Adrenomyodystrophy |
32 |
732 |
|
ADR010 |
Adrenal Cortical Hypofunction |
32 |
733 |
c
|
TYP055 |
Type 1 Diabetes Mellitus 22 |
32 |
734 |
c
|
PRP091 |
Porphyria Cutanea Tarda, Type I |
32 |
735 |
c
|
ECT066 |
Ectodermal Dysplasia 9, Hair/nail Type |
32 |
736 |
c
|
TYP038 |
Type 1 Diabetes Mellitus 15 |
31 |
737 |
|
TST020 |
Testis Seminoma |
31 |
738 |
|
CYS015 |
Cystadenofibroma |
31 |
739 |
|
PTT044 |
Pituitary Hormone Deficiency, Combined, 4 |
31 |
740 |
c
|
ECT065 |
Ectodermal Dysplasia 7, Hair/nail Type |
31 |
741 |
c
|
TYP054 |
Type 1 Diabetes Mellitus 21 |
31 |
742 |
|
PTT001 |
Pituitary Hypoplasia |
31 |
743 |
c
|
DRY002 |
Dry Beriberi |
31 |
744 |
|
LCT003 |
Lactocele |
30 |
745 |
|
EXT054 |
Extra-Adrenal Pheochromocytoma |
30 |
746 |
|
ACD001 |
Acidophil Adenoma |
30 |
747 |
|
FTL062 |
Fetal Iodine Deficiency Disorder |
30 |
748 |
|
PRG110 |
Progressive Encephalomyelitis with Rigidity and Myoclonus |
30 |
749 |
c
|
TYP032 |
Type 1 Diabetes Mellitus 6 |
30 |
750 |
P
|
ACQ009 |
Acquired Metabolic Disease |
30 |
751 |
|
HYP611 |
Hypoparathyroidism, X-Linked |
30 |
752 |
P
|
HRD022 |
Hordeolum |
30 |
753 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
29 |
754 |
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
29 |
755 |
|
END015 |
Endometrial Adenosquamous Carcinoma |
29 |
756 |
c
|
MTC076 |
Metachromatic Leukodystrophy, Juvenile Form |
29 |
757 |
c
|
TYP056 |
Type 1 Diabetes Mellitus 23 |
29 |
758 |
|
PNC018 |
Pancreatic Serous Cystadenoma |
29 |
759 |
|
OVR002 |
Ovarian Serous Cystadenofibroma |
29 |
760 |
c
|
ATM068 |
Autoimmune Hypoparathyroidism |
29 |
761 |
c
|
MTC075 |
Metachromatic Leukodystrophy, Late Infantile Form |
29 |
762 |
|
OVR057 |
Ovarian Serous Adenofibroma |
28 |
763 |
c
|
XLN251 |
X-Linked Nephrogenic Diabetes Insipidus |
28 |
764 |
c
|
TYP053 |
Type 1 Diabetes Mellitus 20 |
28 |
765 |
c
|
PRM192 |
Premature Ovarian Failure 8 |
28 |
766 |
c
|
SHW007 |
Shwachman-Diamond Syndrome 2 |
28 |
767 |
c
|
PRM090 |
Premature Ovarian Failure 6 |
28 |
768 |
c
|
PRM089 |
Premature Ovarian Failure 3 |
28 |
769 |
c
|
PRM094 |
Premature Ovarian Failure 5 |
28 |
770 |
P
|
PRT259 |
Proteasome-Associated Autoinflammatory Syndrome |
28 |
771 |
c
|
TYP033 |
Type 1 Diabetes Mellitus 7 |
28 |
772 |
c
|
PRM207 |
Premature Ovarian Failure 10 |
28 |
773 |
|
FML019 |
Familiar Ovarian Carcinoma |
28 |
774 |
|
FNC050 |
Functioning Gonadotropic Adenoma |
28 |
775 |
|
BRS039 |
Breast Fibroadenosis |
27 |
776 |
c
|
VTM035 |
Vitamin D-Dependent Rickets, Type 3 |
27 |
777 |
c
|
46X048 |
46,xx Sex Reversal 2 |
27 |
778 |
c
|
CHR018 |
Chronic Salpingo-Oophoritis |
27 |
779 |
c
|
TYP035 |
Type 1 Diabetes Mellitus 11 |
27 |
780 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
27 |
781 |
c
|
ECT068 |
Ectodermal Dysplasia 6, Hair/nail Type |
27 |
782 |
|
DSR031 |
Disorder of Copper Metabolism |
27 |
783 |
|
ACT258 |
Acute Hemorrhagic Pancreatitis |
27 |
784 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
26 |
785 |
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
26 |
786 |
c
|
HYP443 |
Hypogonadotropic Hypogonadism 13 with or Without Anosmia |
26 |
787 |
c
|
THY062 |
Thyroid Dyshormonogenesis 5 |
26 |
788 |
c
|
HYP538 |
Hypogonadotropic Hypogonadism 17 with or Without Anosmia |
26 |
789 |
c
|
TYP029 |
Type 1 Diabetes Mellitus 3 |
26 |
790 |
c
|
PRM091 |
Premature Ovarian Failure 2b |
26 |
791 |
c
|
PRM254 |
Premature Ovarian Failure 11 |
26 |
792 |
c
|
ECT064 |
Ectodermal Dysplasia 5, Hair/nail Type |
26 |
793 |
c
|
46X046 |
46,xy Sex Reversal 4 |
26 |
794 |
|
PGD001 |
Pagod Syndrome |
26 |
795 |
c
|
PRM253 |
Premature Ovarian Failure 13 |
26 |
796 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
797 |
c
|
TYP057 |
Type 1 Diabetes Mellitus 24 |
25 |
798 |
|
THY098 |
Thyroid Ectopia |
25 |
799 |
|
DPL009 |
Duplication of the Pituitary Gland |
25 |
800 |
c
|
HRD156 |
Hereditary Central Diabetes Insipidus |
25 |
801 |
c
|
HYP820 |
Hypogonadotropic Hypogonadism 22 with or Without Anosmia |
25 |
802 |
|
LYS029 |
Lysosomal Disease |
25 |
803 |
|
SBC005 |
Subacute Lymphocytic Thyroiditis |
25 |
804 |
c
|
PRT136 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
25 |
805 |
|
END038 |
Endocrine Pancreas Disease |
25 |
806 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
24 |
807 |
|
ARD001 |
Aredyld |
24 |
808 |
|
NNF001 |
Non-Functioning Pancreatic Endocrine Tumor |
24 |
809 |
P
|
PLY188 |
Polyendocrinopathy |
24 |
810 |
P
|
PHC019 |
Pheochromocytoma-Paraganglioma |
24 |
811 |
c
|
TYP039 |
Type 1 Diabetes Mellitus 17 |
24 |
812 |
c
|
HYP762 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
24 |
813 |
c
|
ATM066 |
Autoimmune Polyendocrinopathy Type 4 |
24 |
814 |
c
|
46X059 |
46,xx Sex Reversal 4 |
24 |
815 |
c
|
PRM292 |
Premature Ovarian Failure 14 |
24 |
816 |
c
|
MTC234 |
Mitochondrial Dna Depletion Syndrome 16b |
24 |
817 |
c
|
MTC074 |
Metachromatic Leukodystrophy, Adult Form |
24 |
818 |
c
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
23 |
819 |
c
|
INS009 |
Insulin-Resistance Type B |
23 |
820 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
23 |
821 |
c
|
TYP052 |
Type 1 Diabetes Mellitus 19 |
23 |
822 |
|
DST037 |
Distal Monosomy 9p |
23 |
823 |
c
|
INT262 |
Intermediate Maple Syrup Urine Disease |
23 |
824 |
c
|
PRM191 |
Premature Ovarian Failure 9 |
23 |
825 |
c
|
MTC236 |
Mitochondrial Dna Depletion Syndrome 20 |
23 |
826 |
c
|
46X056 |
46,xy Sex Reversal 5 |
23 |
827 |
c
|
ACQ034 |
Acquired Central Diabetes Insipidus |
23 |
828 |
|
MNT259 |
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies |
23 |
829 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
23 |
830 |
c
|
PRT255 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
23 |
831 |
P
|
SLP004 |
Salpingo-Oophoritis |
23 |
832 |
|
NRH002 |
Neurohypophysis Granular Cell Tumor |
23 |
833 |
c
|
TYP049 |
Type 2 Diabetes Mellitus 2 |
23 |
834 |
|
NNG002 |
Non-Gestational Ovarian Choriocarcinoma |
23 |
835 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
22 |
836 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
22 |
837 |
P
|
PRM176 |
Premature Ovarian Failure 2a |
22 |
838 |
c
|
BNG029 |
Benign Struma Ovarii |
22 |
839 |
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
22 |
840 |
|
MXD014 |
Mixed Ductal-Endocrine Carcinoma |
22 |
841 |
|
OVR003 |
Ovarian Angiosarcoma |
22 |
842 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
843 |
|
MCN010 |
Mucinous Cystadenofibroma |
22 |
844 |
c
|
TYP058 |
Type 2 Diabetes 5 |
22 |
845 |
c
|
HYP858 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
22 |
846 |
|
ACR079 |
Acrodysostosis with Multiple Hormone Resistance |
21 |
847 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
848 |
|
CHF001 |
Chief Cell Adenoma |
21 |
849 |
|
TTR018 |
Tetragametic Chimerism |
21 |
850 |
c
|
PRM255 |
Premature Ovarian Failure 12 |
21 |
851 |
|
CHL180 |
Childhood Ovarian Dysgerminoma |
21 |
852 |
|
PNH004 |
Panhypophysitis |
21 |
854 |
|
VNT040 |
Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
21 |
855 |
|
HYP685 |
Hypergonadotropic Hypogonadism and Partial Alopecia |
21 |
856 |
c
|
VTM037 |
Vitamin D-Dependent Rickets Type 2b |
21 |
857 |
c
|
INT047 |
Internal Hordeolum |
21 |
858 |
|
NNF008 |
Non-Functioning Paraganglioma |
21 |
859 |
|
CHL173 |
Childhood Ovarian Germ Cell Tumor |
20 |
860 |
c
|
CHR695 |
Chronic Primary Adrenal Insufficiency |
20 |
861 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
862 |
|
OBS060 |
Obesity Due to Sim1 Deficiency |
20 |
863 |
c
|
PRM295 |
Premature Ovarian Failure 15 |
20 |
864 |
c
|
ATM050 |
Autoimmune Thyroid Disease 3 |
20 |
865 |
|
BLT017 |
Bilateral Massive Adrenal Hemorrhage |
20 |
866 |
c
|
DBT098 |
Diabetes Mellitus, Transient Neonatal, 2 |
20 |
867 |
|
ISL139 |
Isolated Congenital Hypogonadotropic Hypogonadism |
20 |
868 |
c
|
PRM378 |
Premature Ovarian Failure 20 |
20 |
869 |
c
|
46X050 |
46,xx Sex Reversal 3 |
19 |
870 |
|
ACT245 |
Acth-Dependent Cushing Syndrome |
19 |
871 |
|
GNT167 |
Genetic Obesity |
19 |
872 |
|
LRN007 |
Laron Syndrome with Immunodeficiency |
19 |
873 |
|
HYD021 |
Hydrocephalus Obesity Hypogonadism |
19 |
874 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
19 |
875 |
|
46X015 |
46,xy Ovotesticular Disorder of Sex Development |
19 |
876 |
c
|
PRM348 |
Premature Ovarian Failure 17 |
19 |
877 |
|
GRF006 |
Grfoma |
19 |
878 |
|
CLL011 |
Colloid Adenoma |
18 |
879 |
|
ATY007 |
Atypical Follicular Adenoma |
18 |
880 |
|
OVR037 |
Ovarian Solid Teratoma |
18 |
881 |
|
LPS003 |
Liposarcoma of the Ovary |
18 |
882 |
c
|
PRM344 |
Premature Ovarian Failure 16 |
18 |
883 |
c
|
TYP037 |
Type 1 Diabetes Mellitus 13 |
17 |
884 |
c
|
TRN055 |
Turner Syndrome Due to Structural X Chromosome Anomalies |
17 |
885 |
c
|
TYP051 |
Type 2 Diabetes Mellitus 4 |
17 |
886 |
P
|
OVR052 |
Ovarian Endometrioid Adenofibroma |
17 |
887 |
|
OST061 |
Osteosclerosis with Ichthyosis and Premature Ovarian Failure |
17 |
888 |
|
OVR008 |
Ovarian Mucinous Cystadenofibroma |
17 |
889 |
|
LCT008 |
Lactate Dehydrogenase Deficiency |
17 |
890 |
|
LTN011 |
Late-Onset Isolated Acth Deficiency |
17 |
891 |
c
|
PRT254 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
17 |
892 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
17 |
893 |
c
|
PRM355 |
Primary Ovarian Insufficiency 6 |
16 |
894 |
c
|
ACT247 |
Acth-Independent Macronodular Adrenal Hyperplasia 1 |
16 |
895 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
16 |
896 |
|
INT288 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
16 |
897 |
|
ATS285 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
16 |
898 |
c
|
FML275 |
Familial Hypoaldosteronism |
15 |
899 |
c
|
TYP050 |
Type 2 Diabetes Mellitus 3 |
15 |
900 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
15 |
901 |
|
BSP005 |
Basophilic Adenocarcinoma |
15 |
902 |
|
PRM146 |
Primary Unilateral Adrenal Hyperplasia |
15 |
903 |
|
OVR038 |
Ovarian Fetiform Teratoma |
15 |
904 |
|
PDT046 |
Pediatric-Onset Graves Disease |
15 |
905 |
c
|
ERL059 |
Early-Onset Familial Hypoaldosteronism |
14 |
906 |
c
|
LTN026 |
Late-Onset Familial Hypoaldosteronism |
14 |
907 |
|
OVR016 |
Ovarian Endometrioid Stromal Sarcoma |
14 |
908 |
|
PTT072 |
Pituitary Blastoma |
14 |
909 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
910 |
c
|
CNG543 |
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies |
14 |
911 |
|
TST019 |
Testis Sarcoma |
14 |
912 |
c
|
ATM056 |
Autoimmune Thyroid Disease 1 |
14 |
913 |
|
CHR474 |
Chronic Diarrhea Due to Glucoamylase Deficiency |
13 |
914 |
|
46X040 |
46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome |
13 |
915 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
13 |
916 |
|
SVR045 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency |
12 |
917 |
|
TRB001 |
Trabecular Follicular Adenocarcinoma |
12 |
918 |
|
PTT038 |
Pituitary Deficiency Due to Empty Sella Turcica Syndrome |
12 |
919 |
c
|
ATM057 |
Autoimmune Thyroid Disease 2 |
12 |
920 |
|
DSR083 |
Disorder of Amino Acid Absorption and Transport |
12 |
921 |
c
|
RRH009 |
Rare Hypothyroidism |
12 |
922 |
|
PTT069 |
Pituitary Deficiency Due to Rathke Cleft Cysts |
12 |
923 |
|
PTT039 |
Pituitary Dermoid and Epidermoid Cysts |
11 |
924 |
|
PST112 |
Post-Traumatic Pituitary Deficiency |
11 |
925 |
|
DSR056 |
Disorder of Fructose Metabolism |
11 |
926 |
P
|
INB001 |
Inborn Amino Acid Metabolism Disorder |
11 |
927 |
|
HYP625 |
Hyperandrogenism Due to Cortisone Reductase Deficiency |
11 |
928 |
c
|
ATM058 |
Autoimmune Thyroid Disease 4 |
11 |
929 |
|
HYP852 |
Hypocalcemic Rickets |
11 |
930 |
|
INT222 |
Intermediate Dend Syndrome |
10 |
931 |
|
NLL003 |
Null Pituitary Adenoma |
10 |
932 |
|
OVR031 |
Ovarian Papillary Cystadenoma |
10 |
933 |
|
PRP104 |
Prepubertal Anorexia Nervosa |
9 |
934 |
|
DZX005 |
Diazoxide-Resistant Hyperinsulinism |
8 |
935 |
|
GST003 |
Gastrin Secretion Abnormality |
8 |
936 |
P
|
RRT025 |
Rare Thyroid Disease |
8 |
937 |
|
MLG017 |
Malignant Tumor of Undescended Testis |
8 |
938 |
c
|
CNG591 |
Congenital Hypothyroidism Due to Developmental Anomaly |
8 |
939 |
|
IDN004 |
Iodine Antenatal Exposure |
7 |
940 |
P
|
PRX076 |
Peroxisomal Beta-Oxidation Disorder |
7 |
941 |
|
CLS051 |
Classic Neuroendocrine Tumor of Appendix |
7 |
942 |
c
|
RRD067 |
Rare Diabetes Mellitus |
7 |
943 |
|
ACQ065 |
Acquired Pituitary Hormone Deficiency |
7 |
944 |
c
|
DBT096 |
Diabetes Mellitus, Congenital Autoimmune |
7 |
945 |
|
CLS025 |
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
7 |
946 |
|
PNC026 |
Pancreatic Mucinous Ductal Ectasia |
6 |
947 |
|
TST008 |
Testis Polyembryoma |
6 |
948 |
c
|
PRT125 |
Parotitis, Juvenile Recurrent |
6 |
949 |
c
|
RRH010 |
Rare Hypoparathyroidism |
6 |
950 |
c
|
ACQ064 |
Acquired Premature Ovarian Failure |
6 |
951 |
|
GNT051 |
Genetic Non-Syndromic Obesity |
6 |
952 |
c
|
OVR025 |
Ovarian Mucinous Malignant Adenofibroma |
6 |
953 |
|
MKT001 |
Mikati-Najjar-Sahli Syndrome |
6 |
954 |
|
CHL036 |
Childhood Mature Teratoma of the Ovary |
6 |
955 |
|
GLN004 |
Glandular Pattern Ovarian Yolk Sac Tumor |
6 |
956 |
|
OVR036 |
Ovarian Endometrioid Cystadenofibroma |
6 |
957 |
|
SYN101 |
Syndromic Hypothyroidism |
6 |
958 |
c
|
RRD013 |
Rare Diabetes Mellitus Type 2 |
5 |
959 |
c
|
RRD012 |
Rare Diabetes Mellitus Type 1 |
5 |
960 |
c
|
RRH011 |
Rare Hyperparathyroidism |
5 |
961 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
5 |
962 |
|
CHN078 |
Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome |
5 |
963 |
|
DSR068 |
Disorder of Peptide Metabolism |
5 |
964 |
|
DSR077 |
Disorder of the Gamma-Glutamyl Cycle |
5 |
965 |
|
NNC017 |
Non-Acquired Pituitary Hormone Deficiency |
5 |
966 |
|
PRM330 |
Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly |
5 |
967 |
P
|
RRH006 |
Rare Hyperlipidemia |
5 |
968 |
|
MXD048 |
Mixed Functioning Pituitary Adenoma |
5 |
969 |
c
|
PRM358 |
Primary Ovarian Insufficiency 9 |
5 |
970 |
|
MXD004 |
Mixed Eosinophil-Basophil Adenoma |
5 |
971 |
P
|
RRH027 |
Rare Hypercholesterolemia |
5 |
972 |
|
TST042 |
Testicular Pure Germ Cell Tumor |
5 |
973 |
|
DSR035 |
Disorder of Bilirubin Metabolism and Excretion |
5 |
974 |
|
HPT010 |
Hepatoid Pattern Ovarian Yolk Sac Tumor |
5 |
975 |
|
RRS009 |
Rare Surgically Correctable Form of Primary Aldosteronism |
5 |
976 |
|
46X075 |
46,xx Disorder of Sex Development Induced by Fetal Androgens Excess |
4 |
977 |
P
|
RRN005 |
Rare Insulin-Resistance Syndrome |
4 |
978 |
|
PLY007 |
Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor |
4 |
979 |
c
|
PRM350 |
Primary Ovarian Insufficiency 2a |
4 |
980 |
c
|
DSR009 |
Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation |
4 |
981 |
c
|
PRM357 |
Primary Ovarian Insufficiency 8 |
4 |
982 |
c
|
OVR071 |
Ovarian Insufficiency, Familial |
4 |
983 |
c
|
PRM356 |
Primary Ovarian Insufficiency 7 |
4 |
984 |
|
DSR024 |
Disorder of Folate Metabolism and Transport |
4 |
985 |
c
|
DSR050 |
Disorder of Beta and Omega Amino Acid Metabolism |
4 |
986 |
c
|
RRH005 |
Rare Hypoaldosteronism |
4 |
987 |
c
|
RRD014 |
Rare Adult Hypothyroidism |
4 |
988 |
|
MTC185 |
Mitochondrial Substrate Carrier Disorder |
4 |
989 |
|
PLY015 |
Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor |
4 |
990 |
c
|
MTB012 |
Metabolic Disease Due to Other Fatty Acid Oxidation Disorder |
4 |
991 |
|
NNR001 |
Non-Renal Secondary Hyperparathyroidism |
4 |
992 |
c
|
GNT178 |
Genetic Chronic Primary Adrenal Insufficiency |
4 |
993 |
|
RRD015 |
Rare Disorder with Hypergonadotropic Hypogonadism |
4 |
994 |
|
DSR080 |
Disorder of Cobalamin Metabolism and Transport |
4 |
995 |
|
CNG594 |
Congenital Thyroid Malformation Without Hypothyroidism |
4 |
996 |
c
|
ACQ068 |
Acquired Chronic Primary Adrenal Insufficiency |
3 |
997 |
|
OBS083 |
Obesity Due to Congenital Leptin Resistance |
3 |
998 |
|
PTT066 |
Pituitary Hormone Deficiency of Meningeal Origin |
3 |
999 |
|
PTT065 |
Pituitary Hormone Deficiency Secondary to a Granulomatous Disease |
3 |
1000 |
|
RRP003 |
Rare Peripheral Precocious Puberty |
3 |
1001 |
|
MLT176 |
Multiple Polyglandular Tumor |
3 |
1002 |
|
RRN018 |
Rare Endocrine Growth Disease |
3 |
1003 |
|
RRD020 |
Rare Disease with Cushing Syndrome As a Major Feature |
3 |
1004 |
|
GST086 |
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach |
37 |
1005 |
|
THY025 |
Thymus Cancer |
57 |
1006 |
c
|
RNL092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
37 |
1007 |
P
|
RNL059 |
Renal-Hepatic-Pancreatic Dysplasia |
37 |
1008 |
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
57 |
1009 |
|
IMM177 |
Immunodeficiency 54 |
44 |
1010 |
c
|
RNL095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
27 |
1011 |
|
NRN006 |
Neuroendocrine Carcinoma of the Cervix |
22 |
1012 |
|
IGG007 |
Igg4-Related Disease |
50 |
1013 |
|
ECC003 |
Eccrine Papillary Adenoma |
30 |
1014 |
|
ECC008 |
Eccrine Sweat Gland Neoplasm |
25 |
1015 |
|
ECC007 |
Eccrine Sweat Gland Cancer |
25 |
1016 |
|
APM001 |
Aapoaii Amyloidosis |
17 |
1017 |
|
GNT073 |
Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen |
5 |
1018 |
c
|
HMC039 |
Hemochromatosis, Type 1 |
75 |
1019 |
P
|
LFR001 |
Li-Fraumeni Syndrome |
73 |
1020 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
72 |
1021 |
P
|
PHC003 |
Pheochromocytoma |
70 |
1022 |
P
|
FRG001 |
Fragile X Syndrome |
69 |
1023 |
c
|
AMY087 |
Amyloidosis, Hereditary, Transthyretin-Related |
67 |
1024 |
|
CRB011 |
Cerebrotendinous Xanthomatosis |
67 |
1025 |
|
THY121 |
Thyroid Gland Anaplastic Carcinoma |
67 |
1026 |
|
ATM096 |
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia |
66 |
1027 |
|
ADR016 |
Adrenal Cortical Carcinoma |
66 |
1028 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
66 |
1029 |
P
|
AMY004 |
Amyloidosis |
66 |
1030 |
c
|
GLY004 |
Glycogen Storage Disease V |
65 |
1031 |
c
|
GLY003 |
Glycogen Storage Disease Iii |
65 |
1032 |
P
|
CTC001 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
65 |
1033 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
64 |
1034 |
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
64 |
1035 |
|
NTR005 |
Nutritional Deficiency Disease |
64 |
1036 |
P
|
HYP374 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
64 |
1037 |
|
THY122 |
Thyroid Gland Cancer |
63 |
1038 |
|
ACR007 |
Acromegaly |
63 |
1039 |
P
|
HYP069 |
Hyperparathyroidism |
63 |
1040 |
P
|
NRB001 |
Neuroblastoma |
62 |
1041 |
c
|
HYP760 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
61 |
1042 |
c
|
HYP841 |
Hypoalphalipoproteinemia, Primary, 1 |
61 |
1043 |
c
|
GRV008 |
Graves Disease 1 |
60 |
1044 |
|
DBN001 |
Dubin-Johnson Syndrome |
60 |
1045 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
59 |
1046 |
c
|
ACT027 |
Acute Pancreatitis |
59 |
1047 |
|
CLR108 |
Colorectal Adenoma |
59 |
1048 |
P
|
GLY013 |
Glycogen Storage Disease |
59 |
1049 |
|
ALL001 |
Allan-Herndon-Dudley Syndrome |
57 |
1050 |
|
PND002 |
Pendred Syndrome |
57 |
1051 |
P
|
PNC044 |
Pancreatitis |
57 |
1052 |
c
|
FML116 |
Familial Cold Autoinflammatory Syndrome 1 |
57 |
1053 |
P
|
ACT092 |
Acth-Independent Macronodular Adrenal Hyperplasia |
57 |
1054 |
c
|
GLY011 |
Glycogen Storage Disease Vii |
57 |
1055 |
|
HYP005 |
Hypokalemia |
56 |
1056 |
c
|
CNT122 |
Central Diabetes Insipidus |
56 |
1057 |
c
|
HMC009 |
Hemochromatosis Type 2 |
56 |
1058 |
|
ADR008 |
Adrenal Adenoma |
56 |
1059 |
|
PRD004 |
Prediabetes Syndrome |
56 |
1060 |
|
APP015 |
Apparent Mineralocorticoid Excess |
56 |
1061 |
|
APH001 |
Aphthous Stomatitis |
56 |
1062 |
P
|
HYP024 |
Hypoparathyroidism |
56 |
1063 |
P
|
FML068 |
Familial Hypocalciuric Hypercalcemia |
55 |
1064 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
55 |
1065 |
c
|
HMC035 |
Hemochromatosis, Type 4 |
55 |
1066 |
P
|
DBT005 |
Diabetes Insipidus |
55 |
1067 |
|
OVR012 |
Ovarian Serous Cystadenocarcinoma |
54 |
1068 |
|
HYP083 |
Hypopituitarism |
54 |
1069 |
P
|
LCT002 |
Lactose Intolerance |
54 |
1070 |
|
HYP781 |
Hypoascorbemia |
54 |
1071 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
1072 |
|
ZLL002 |
Zollinger-Ellison Syndrome |
53 |
1073 |
c
|
HYP795 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
53 |
1074 |
|
CHP002 |
Chops Syndrome |
53 |
1075 |
|
JHN001 |
Johanson-Blizzard Syndrome |
52 |
1076 |
c
|
CNT075 |
Central Precocious Puberty |
52 |
1077 |
|
TST014 |
Testicular Cancer |
52 |
1078 |
|
PRX005 |
Peroxisomal Biogenesis Disorder |
52 |
1079 |
P
|
VND002 |
Van Der Woude Syndrome |
52 |
1080 |
P
|
OVR049 |
Ovarian Disease |
52 |
1081 |
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
52 |
1082 |
P
|
PRM051 |
Primary Pigmented Nodular Adrenocortical Disease |
51 |
1083 |
c
|
HMC010 |
Hemochromatosis, Type 3 |
51 |
1084 |
|
IMM064 |
Immunodeficiency, Common Variable, 10 |
51 |
1085 |
P
|
THY112 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
51 |
1086 |
|
CMB062 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
51 |
1087 |
|
GLC042 |
Glucocorticoid Deficiency 1 |
51 |
1088 |
c
|
FML253 |
Familial Cold Autoinflammatory Syndrome 3 |
51 |
1089 |
|
PRT029 |
Parathyroid Adenoma |
50 |
1090 |
c
|
HYP513 |
Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
50 |
1091 |
|
DFF036 |
Differentiated Thyroid Carcinoma |
50 |
1092 |
c
|
GLY097 |
Glycogen Storage Disease Ixb |
49 |
1093 |
P
|
HMG032 |
Hemoglobin H Disease |
49 |
1094 |
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
49 |
1095 |
|
THY125 |
Thyroid Gland Medullary Carcinoma |
49 |
1096 |
|
MRG013 |
Mirage Syndrome |
49 |
1097 |
|
PTT004 |
Pituitary Apoplexy |
49 |
1098 |
c
|
VNT010 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
48 |
1099 |
P
|
OVR046 |
Ovarian Cyst |
48 |
1100 |
|
VTM002 |
Vitamin B12 Deficiency |
48 |
1101 |
|
FSH001 |
Fish-Eye Disease |
48 |
1102 |
c
|
GLY115 |
Glycogen Storage Disease Ixd |
48 |
1103 |
c
|
ACT150 |
Acute Adrenal Insufficiency |
47 |
1104 |
|
SHH001 |
Sheehan Syndrome |
47 |
1105 |
|
SML028 |
Semilobar Holoprosencephaly |
47 |
1106 |
|
HRT039 |
Heart Defects, Congenital, and Other Congenital Anomalies |
47 |
1107 |
|
PLR023 |
Polr3-Related Leukodystrophy |
47 |
1108 |
P
|
GRW001 |
Growth Hormone Secreting Pituitary Adenoma |
47 |
1109 |
|
ALB014 |
Alobar Holoprosencephaly |
47 |
1110 |
c
|
FML117 |
Familial Cold Autoinflammatory Syndrome 2 |
47 |
1111 |
|
NPH013 |
Nephrogenic Syndrome of Inappropriate Antidiuresis |
46 |
1112 |
P
|
THY061 |
Thyroid Dyshormonogenesis 2a |
46 |
1113 |
|
PRX001 |
Peroxisomal Disease |
46 |
1114 |
|
ORG002 |
Organic Acidemia |
46 |
1115 |
P
|
PRC019 |
Precocious Puberty |
46 |
1116 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
46 |
1117 |
|
CRB025 |
Carbohydrate Metabolic Disorder |
46 |
1118 |
c
|
GLY009 |
Glycogen Storage Disease Xv |
46 |
1119 |
P
|
PLL002 |
Pellagra |
46 |
1120 |
c
|
BLC008 |
Bile Acid Synthesis Defect, Congenital, 2 |
45 |
1121 |
|
END059 |
Endocrine-Cerebroosteodysplasia |
45 |
1122 |
P
|
BRB001 |
Beriberi |
45 |
1123 |
|
LCT013 |
Lactase Deficiency, Congenital |
45 |
1124 |
|
BTN004 |
Biotin Deficiency |
45 |
1125 |
|
ARC025 |
Arachnoid Cysts, Intracranial |
45 |
1126 |
c
|
46X051 |
46,xy Sex Reversal 1 |
45 |
1127 |
|
ISL114 |
Isolated Growth Hormone Deficiency, Type Ii |
44 |
1128 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
44 |
1129 |
c
|
HMG003 |
Hemoglobin E Disease |
44 |
1130 |
|
PNC013 |
Pancreatic Ductal Carcinoma |
43 |
1131 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
43 |
1132 |
c
|
HMC021 |
Hemochromatosis, Type 2a |
43 |
1133 |
|
BSM002 |
Bosma Arhinia Microphthalmia Syndrome |
42 |
1134 |
c
|
HMC019 |
Hemochromatosis, Type 2b |
42 |
1135 |
|
OPS001 |
Opisthorchiasis |
41 |
1136 |
c
|
BLC007 |
Bile Acid Synthesis Defect, Congenital, 1 |
41 |
1137 |
c
|
NRB010 |
Neuroblastoma 1 |
41 |
1138 |
P
|
HYP121 |
Hypoalphalipoproteinemia |
41 |
1139 |
|
THY039 |
Thyrotropin-Releasing Hormone Deficiency |
41 |
1140 |
c
|
HMG001 |
Hemoglobin C Disease |
41 |
1141 |
c
|
BLC011 |
Bile Acid Synthesis Defect, Congenital, 3 |
41 |
1142 |
c
|
HMC034 |
Hemochromatosis, Type 5 |
41 |
1143 |
|
THY069 |
Thyroid Hormone Resistance, Selective Pituitary |
40 |
1144 |
c
|
46X055 |
46,xy Sex Reversal 3 |
40 |
1145 |
|
TSH001 |
Tsh Producing Pituitary Tumor |
40 |
1146 |
c
|
ACT202 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
40 |
1147 |
|
PNC104 |
Pancreatic and Cerebellar Agenesis |
40 |
1148 |
|
OVR105 |
Ovarian Serous Carcinoma |
39 |
1149 |
P
|
PNC045 |
Pancreatic Agenesis |
39 |
1150 |
|
PNC015 |
Pancreatic Acinar Cell Adenocarcinoma |
39 |
1151 |
c
|
VNT029 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
39 |
1152 |
c
|
VND007 |
Van Der Woude Syndrome 1 |
39 |
1153 |
P
|
FML362 |
Familial Isolated Hypoparathyroidism |
39 |
1154 |
c
|
VNT027 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
38 |
1155 |
P
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
38 |
1156 |
c
|
GLY057 |
Glycogen Storage Disease X |
38 |
1157 |
|
OVR047 |
Ovarian Cystadenocarcinoma |
38 |
1158 |
|
CRT020 |
Cortisone Reductase Deficiency |
37 |
1159 |
c
|
MLG157 |
Malignant Pheochromocytoma |
37 |
1160 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
37 |
1161 |
c
|
HMG029 |
Hemoglobin Se Disease |
37 |
1162 |
c
|
CNG002 |
Congenital Bile Acid Synthesis Defect |
37 |
1163 |
c
|
FML270 |
Familial Cold Autoinflammatory Syndrome 4 |
36 |
1164 |
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
36 |
1165 |
c
|
HYP438 |
Hyperaldosteronism, Familial, Type Iii |
36 |
1166 |
c
|
BLC009 |
Bile Acid Synthesis Defect, Congenital, 4 |
36 |
1167 |
c
|
HYP355 |
Hypothyroidism, Congenital, Nongoitrous, 3 |
36 |
1168 |
|
PNC027 |
Pancreatic Gastrinoma |
36 |
1169 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
36 |
1170 |
|
GRW023 |
Growth Hormone Deficiency, Isolated Partial |
36 |
1171 |
c
|
LFR009 |
Li-Fraumeni Syndrome 1 |
35 |
1172 |
c
|
46X057 |
46,xy Sex Reversal 8 |
35 |
1173 |
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
35 |
1174 |
c
|
BLC016 |
Bile Acid Synthesis Defect, Congenital, 5 |
35 |
1175 |
|
HPT025 |
Hepatic Lipase Deficiency |
35 |
1176 |
c
|
THY110 |
Thyroid Dyshormonogenesis 6 |
35 |
1177 |
|
PRL010 |
Prolactin Producing Pituitary Tumor |
35 |
1178 |
c
|
LFR007 |
Li-Fraumeni Syndrome 2 |
35 |
1179 |
|
LMB008 |
Limb-Mammary Syndrome |
35 |
1180 |
c
|
HYP518 |
Hypogonadotropic Hypogonadism 16 with or Without Anosmia |
34 |
1181 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
34 |
1182 |
P
|
CNT037 |
Central Nervous System Germinoma |
34 |
1183 |
|
ISL125 |
Isolated Growth Hormone Deficiency Type Iii |
34 |
1184 |
c
|
HYP600 |
Hyperaldosteronism, Familial, Type Ii |
34 |
1185 |
c
|
HMG004 |
Hemoglobin D Disease |
34 |
1186 |
|
PNC127 |
Pancreatic Adenosquamous Carcinoma |
33 |
1187 |
|
ANR018 |
Anorchia |
33 |
1188 |
|
ATR009 |
Atrophy of Testis |
33 |
1189 |
|
SPR018 |
Spermatocytoma |
33 |
1190 |
c
|
HYP864 |
Hypoparathyroidism, Familial Isolated, 1 |
33 |
1191 |
c
|
PTT058 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
33 |
1192 |
|
HRM003 |
Hormone Producing Pituitary Cancer |
33 |
1193 |
|
ADR057 |
Adrenogenital Syndrome |
33 |
1194 |
|
IMM005 |
Immature Teratoma of Ovary |
33 |
1195 |
P
|
HRD207 |
Hereditary Transthyretin Amyloidosis |
32 |
1196 |
c
|
NRB015 |
Neuroblastoma 2 |
32 |
1197 |
c
|
HYP547 |
Hypogonadotropic Hypogonadism 12 with or Without Anosmia |
32 |
1198 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
32 |
1199 |
|
OVR013 |
Ovarian Mucinous Cystadenocarcinoma |
31 |
1200 |
|
CRT066 |
Cortisone Reductase Deficiency 2 |
31 |
1201 |
|
PNC016 |
Pancreatic Cholera |
31 |
1202 |
c
|
HYP708 |
Hyperaldosteronism, Familial, Type Iv |
31 |
1203 |
|
CYL004 |
Cylindromatosis, Familial |
31 |
1204 |
|
BRN137 |
Bronchial Neuroendocrine Tumor |
31 |
1205 |
|
THY127 |
Thyroid Gland Hurthle Cell Carcinoma |
30 |
1206 |
|
TLL001 |
Tall Cell Variant Papillary Carcinoma |
30 |
1207 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
30 |
1208 |
P
|
FML156 |
Familial Hyperaldosteronism |
30 |
1209 |
|
ADR004 |
Adrenal Cortical Adenocarcinoma |
30 |
1210 |
|
CRP004 |
Corpus Luteum Cyst |
30 |
1211 |
|
MTH082 |
Methemoglobinemia and Ambiguous Genitalia |
30 |
1212 |
|
PPM002 |
Ppoma |
30 |
1213 |
c
|
MLG053 |
Malignant Ovarian Brenner Tumor |
30 |
1214 |
c
|
LYD013 |
Leydig Cell Hypoplasia Type Ii |
30 |
1215 |
|
THY031 |
Thyroid Sarcoma |
29 |
1216 |
|
GLC043 |
Glucocorticoid Deficiency 2 |
29 |
1217 |
c
|
GLY059 |
Glycogen Storage Disease Xiii |
29 |
1218 |
c
|
HYP522 |
Hypogonadotropic Hypogonadism 11 with or Without Anosmia |
29 |
1219 |
|
HMT001 |
Hematocele of Tunica Vaginalis Testis |
28 |
1220 |
c
|
NRB014 |
Neuroblastoma 3 |
28 |
1221 |
c
|
HYP860 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
28 |
1222 |
|
DSR052 |
Disorder of Glyoxylate Metabolism |
28 |
1223 |
|
WTB001 |
Wet Beriberi |
28 |
1224 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
28 |
1225 |
|
GST035 |
Gestational Ovarian Choriocarcinoma |
28 |
1226 |
c
|
LPD044 |
Lipodystrophy, Familial Partial, Type 7 |
27 |
1227 |
c
|
HYP514 |
Hypogonadotropic Hypogonadism 8 with or Without Anosmia |
27 |
1228 |
|
PRM315 |
Permanent Congenital Hypothyroidism |
27 |
1229 |
|
PNC038 |
Pancreatic Cystadenocarcinoma |
27 |
1230 |
|
OVR021 |
Ovarian Lymphoma |
27 |
1231 |
|
SCN001 |
Secondary Hyperparathyroidism of Renal Origin |
27 |
1232 |
|
TST010 |
Testicular Spermatocytic Seminoma |
27 |
1233 |
c
|
LCT011 |
Lactose Intolerance, Adult Type |
27 |
1234 |
|
NNN001 |
Nonencapsulated Sclerosing Carcinoma |
27 |
1235 |
|
MYM012 |
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism |
27 |
1236 |
|
IGG015 |
Igg4-Related Thyroid Disease |
27 |
1237 |
c
|
HYP720 |
Hyperparathyroidism 4 |
27 |
1238 |
|
PYR035 |
Pyrimidine Metabolic Disorder |
26 |
1239 |
|
GNT043 |
Genitopalatocardiac Syndrome |
26 |
1240 |
P
|
MTC195 |
Mitochondrial Oxidative Phosphorylation Disorder |
26 |
1241 |
|
CRT065 |
Cortisone Reductase Deficiency 1 |
26 |
1242 |
c
|
HYP521 |
Hypogonadotropic Hypogonadism 10 with or Without Anosmia |
26 |
1243 |
|
PNC028 |
Pancreatic Steatorrhea |
26 |
1244 |
|
PNC017 |
Pancreatic Serous Cystic Neoplasm |
26 |
1245 |
|
MCN003 |
Mucinous Ovarian Cystadenoma |
26 |
1246 |
c
|
HYP444 |
Hypogonadotropic Hypogonadism 9 with or Without Anosmia |
25 |
1247 |
|
HYP683 |
Hypogonadism-Cataract Syndrome |
25 |
1248 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
25 |
1249 |
P
|
HFH002 |
Hfe Hemochromatosis |
25 |
1250 |
c
|
PRM340 |
Primary Adrenal Insufficiency |
25 |
1251 |
|
PST034 |
Posterior Pituitary Gland Neoplasm |
25 |
1252 |
|
HYP835 |
Hypothalamic Obesity |
25 |
1253 |
c
|
PRD023 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 |
24 |
1254 |
c
|
HYP882 |
Hypogonadotropic Hypogonadism 26 with or Without Anosmia |
24 |
1255 |
|
HST007 |
Histidine Metabolism Disease |
24 |
1256 |
|
TST007 |
Testicular Infarct |
24 |
1257 |
|
PNC031 |
Pancreatic Foamy Gland Adenocarcinoma |
24 |
1258 |
|
END036 |
Endocrine Organ Benign Neoplasm |
24 |
1259 |
|
ISL082 |
Isolated Atp Synthase Deficiency |
23 |
1260 |
c
|
BLC018 |
Bile Acid Synthesis Defect, Congenital, 6 |
23 |
1261 |
|
DFN313 |
Deafness-Hypogonadism Syndrome |
23 |
1262 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
23 |
1263 |
|
OVR109 |
Ovarian Germ Cell Teratoma |
23 |
1264 |
|
OVR027 |
Ovarian Squamous Cell Carcinoma |
23 |
1265 |
|
OVR040 |
Ovarian Clear Cell Cystadenocarcinoma |
23 |
1266 |
|
ECT094 |
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type |
23 |
1267 |
|
MSC089 |
Mosaic Monosomy X |
22 |
1268 |
c
|
TFR001 |
Tfr2-Related Hereditary Hemochromatosis |
22 |
1269 |
|
OBS067 |
Obesity Due to Melanocortin 4 Receptor Deficiency |
22 |
1270 |
|
OVR104 |
Ovarian Melanoma |
22 |
1271 |
|
MTR011 |
Mature Teratoma of the Ovary |
22 |
1272 |
|
MRB006 |
Morbid Obesity and Spermatogenic Failure |
22 |
1273 |
|
THY108 |
Thymic Neuroendocrine Tumor |
22 |
1274 |
|
FNC003 |
Functionless Pituitary Adenoma |
22 |
1275 |
|
HYP645 |
Hyperthyroxinemia, Dystransthyretinemic |
21 |
1276 |
|
TST005 |
Testicular Gonadoblastoma |
21 |
1277 |
c
|
OVR018 |
Ovarian Clear Cell Malignant Adenofibroma |
21 |
1278 |
|
IDP034 |
Idiopathic Central Precocious Puberty |
21 |
1279 |
|
FTL005 |
Fetal Adenoma |
21 |
1280 |
|
EPD012 |
Epididymal Neoplasm |
21 |
1281 |
|
DSR055 |
Disorder of Galactose Metabolism |
20 |
1282 |
c
|
HYP883 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
20 |
1283 |
c
|
HYP886 |
Hypoalphalipoproteinemia, Primary, 2, Intermediate |
20 |
1284 |
c
|
RRH023 |
Rare Hereditary Hemochromatosis |
20 |
1285 |
|
NNN035 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
20 |
1286 |
|
NNC019 |
Non-Acquired Panhypopituitarism |
20 |
1287 |
|
CHL172 |
Childhood Testicular Germ Cell Tumor |
19 |
1288 |
P
|
DSR081 |
Disorder of Bile Acid Synthesis |
19 |
1289 |
|
DVL139 |
Developmental and Epileptic Encephalopathy 105 with Hypopituitarism |
19 |
1290 |
|
OVR056 |
Ovarian Primitive Germ Cell Tumor |
19 |
1292 |
|
PRT020 |
Parathyroid Oncocytic Adenoma |
19 |
1293 |
|
SPN279 |
Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor |
19 |
1294 |
|
SMT017 |
Somatomammotropinoma |
18 |
1295 |
|
CLL009 |
Colloid Carcinoma of the Pancreas |
18 |
1296 |
|
DSR036 |
Disorder of Mineral Absorption and Transport |
18 |
1297 |
c
|
MLG033 |
Malignant Ovarian Cyst |
18 |
1298 |
c
|
HYP311 |
Hyperparathyroidism 3 |
18 |
1299 |
c
|
PRM150 |
Primary Localized Amyloidosis |
18 |
1300 |
|
INT298 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
18 |
1301 |
c
|
PLL014 |
Pellagra-Like Syndrome |
17 |
1302 |
|
HYP479 |
Hyperinsulinism Due to Hnf4a Deficiency |
17 |
1303 |
c
|
PRD027 |
Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion |
17 |
1304 |
|
PRM187 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
17 |
1305 |
P
|
PRM210 |
Primary Lipodystrophy |
17 |
1306 |
|
MLT005 |
Multicentric Papillary Thyroid Carcinoma |
17 |
1307 |
|
THY131 |
Thyrotoxic Myopathy |
16 |
1308 |
|
PNC126 |
Pancreatic Squamous Cell Carcinoma |
16 |
1309 |
|
ECT055 |
Ectopic Aldosterone-Producing Tumor |
16 |
1310 |
c
|
CTC003 |
Catecholaminergic Polymorphic Ventricular Tachycardia 5 |
16 |
1311 |
|
THY016 |
Thyroid Hurthle Cell Adenoma |
16 |
1312 |
|
TST040 |
Testicular Trophoblastic Tumor |
16 |
1313 |
|
PSD102 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
16 |
1314 |
|
DYS177 |
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome |
15 |
1315 |
|
INH021 |
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency |
15 |
1316 |
|
GNT041 |
Genetic Lipodystrophy |
15 |
1317 |
|
SLN005 |
Silent Pituitary Adenoma |
15 |
1318 |
|
THY092 |
Thymic Neuroendocrine Carcinoma |
15 |
1319 |
|
ALC030 |
Alect2 Amyloidosis |
15 |
1320 |
c
|
NRB012 |
Neuroblastoma 5 |
15 |
1321 |
c
|
NRB016 |
Neuroblastoma 7 |
14 |
1322 |
|
INF124 |
Infundibulo-Neurohypophysitis |
14 |
1323 |
|
CHR727 |
Chronic Neurovisceral Acid Sphingomyelinase Deficiency |
14 |
1324 |
|
SYM015 |
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers |
14 |
1325 |
|
SXC004 |
Sex Chromosome Disorder of Sex Development |
13 |
1326 |
c
|
NRB011 |
Neuroblastoma 4 |
13 |
1327 |
|
NRN032 |
Neuroendocrine Tumor of Anal Canal |
12 |
1328 |
c
|
FML196 |
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland |
12 |
1329 |
|
MBS006 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
12 |
1330 |
c
|
NRB013 |
Neuroblastoma 6 |
12 |
1331 |
|
PYR043 |
Pyruvate Metabolism Disorder |
9 |
1332 |
|
PPL010 |
Papillary Follicular Thyroid Adenocarcinoma |
9 |
1333 |
|
INT279 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
9 |
1334 |
|
CLS028 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form |
9 |
1335 |
c
|
MTC183 |
Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies |
8 |
1336 |
P
|
RRD068 |
Rare Adrenal Disease |
8 |
1337 |
|
HGH029 |
High-Grade Neuroendocrine Carcinoma of the Corpus Uteri |
8 |
1338 |
|
TST011 |
Testis Rhabdomyosarcoma |
8 |
1339 |
|
PRL043 |
Poorly Differentiated Thymic Neuroendocrine Carcinoma |
8 |
1340 |
|
CLM001 |
Columnar Cell Variant Papillary Carcinoma |
8 |
1341 |
c
|
RRP004 |
Rare Primary Hyperaldosteronism |
8 |
1342 |
|
DSR020 |
Disorder of Ornithine Metabolism |
7 |
1343 |
|
DZX006 |
Diazoxide-Resistant Focal Hyperinsulinism |
7 |
1344 |
|
CHL038 |
Childhood Choriocarcinoma of the Ovary |
7 |
1345 |
c
|
RRP025 |
Rare Precocious Puberty |
7 |
1346 |
|
MLG047 |
Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland |
7 |
1347 |
|
TST002 |
Testicular Brenner Tumor |
7 |
1348 |
|
OVR019 |
Ovarian Malignant Mesothelioma |
7 |
1349 |
|
RRP032 |
Rare Parathyroid Tumor |
7 |
1350 |
|
TST009 |
Testis Refractory Cancer |
6 |
1351 |
|
PLM024 |
Pulmonary Type Ovarian Small Cell Carcinoma |
6 |
1352 |
c
|
ADL036 |
Adult Central Nervous System Germinoma |
6 |
1353 |
|
RRD066 |
Rare Dyslipidemia |
6 |
1354 |
|
CHL063 |
Childhood Teratoma of the Ovary |
6 |
1355 |
|
PNC020 |
Pancreatic Solid Pseudopapillary Carcinoma |
6 |
1356 |
c
|
MTC192 |
Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna |
6 |
1357 |
c
|
MTC190 |
Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies |
6 |
1358 |
c
|
MTC189 |
Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna |
6 |
1359 |
|
PNC040 |
Pancreatic Delta Cell Neoplasm |
5 |
1360 |
|
DZX003 |
Diazoxide-Resistant Diffuse Hyperinsulinism |
5 |
1361 |
|
PLY009 |
Polyembryoma of the Ovary |
5 |
1362 |
|
MLG045 |
Malignant Growth Hormone Secreting Neoplasm of Pituitary |
5 |
1363 |
|
SYN174 |
Syndrome of Reduced Sensitivity to Thyroid Hormone |
5 |
1364 |
|
PNC004 |
Pancreatic Non-Invasive Mucinous Cystadenocarcinoma |
5 |
1365 |
|
ADR006 |
Adrenal Gland Ganglioneuroblastoma |
5 |
1366 |
|
OVR014 |
Ovarian Clear Cell Cystadenofibroma |
5 |
1367 |
|
MDR005 |
Moderately-Differentiated Thymic Neuroendocrine Carcinoma |
5 |
1368 |
|
SLD001 |
Solid Pattern Testicular Yolk Sac Tumor |
5 |
1369 |
|
DSR033 |
Disorder of Metabolite Absorption and Transport |
5 |
1370 |
|
CRB003 |
Cribriform Variant Testicular Seminoma |
5 |
1371 |
|
DSR071 |
Disorder of Glycerol Metabolism |
5 |
1372 |
|
RTC004 |
Reticular Pattern Testicular Yolk Sac Tumor |
5 |
1373 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
4 |
1374 |
|
NNC007 |
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
4 |
1375 |
c
|
FRG005 |
Fragile X Syndrome Type 2 |
4 |
1376 |
c
|
FRG004 |
Fragile X Syndrome Type 1 |
4 |
1377 |
|
DSR038 |
Disorder of Catecholamine Synthesis |
4 |
1378 |
|
DSR059 |
Disorder of Carnitine Cycle and Carnitine Transport |
4 |
1379 |
|
MXD018 |
Mixed Cell Type Adenoma of Parathyroid |
4 |
1380 |
c
|
PRM363 |
Primary Ovarian Insufficiency 14 |
4 |
1381 |
c
|
PRM354 |
Primary Ovarian Insufficiency 5 |
4 |
1382 |
|
MCN026 |
Mucinous Pancreas Adenocarcinoma |
4 |
1383 |
|
46X069 |
46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen |
4 |
1384 |
|
46X076 |
46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen |
4 |
1385 |
|
46X068 |
46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen |
4 |
1386 |
c
|
PRM351 |
Primary Ovarian Insufficiency 2b |
4 |
1387 |
|
DSR054 |
Disorder of Lipid Absorption and Transport |
4 |
1388 |
c
|
OVR030 |
Ovarian Endometrioid Malignant Adenofibroma |
4 |
1389 |
|
PNC030 |
Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma |
4 |
1390 |
P
|
46X065 |
46,xy Disorder of Gonadal Development |
4 |
1391 |
|
NNC018 |
Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations |
4 |
1392 |
|
PNC003 |
Pancreatic Invasive Mucinous Cystadenocarcinoma |
4 |
1393 |
|
ATY046 |
Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome |
4 |
1394 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
1395 |
|
BLP052 |
Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome |
4 |
1396 |
|
PNC023 |
Pancreatic Non-Functioning Delta Cell Tumor |
4 |
1397 |
|
RRH007 |
Rare Hypolipidemia |
4 |
1398 |
|
RRN011 |
Rare Non Surgically Correctable Form of Primary Aldosteronism |
3 |
1399 |
|
RRH003 |
Rare Hypothalamic or Pituitary Disease |
3 |
1400 |
|
PTT064 |
Pituitary Hormone Deficiency Secondary to Storage Disease |
3 |
1401 |
|
MTC186 |
Mitochondrial Protein Import Disorder |
3 |
1402 |
|
46X064 |
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
3 |
1403 |
|
DSS031 |
Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency |
3 |
1404 |
|
PSD120 |
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy |
3 |
1405 |
|
NRN048 |
Neuroendocrine Tumor with Other Location |
3 |
1406 |
|
OTH013 |
Other Rare Diabetes Mellitus |
3 |
1407 |
|
END089 |
Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature |
3 |
1408 |
|
ADR058 |
Adrenal/paraganglial Tumor |
3 |
1409 |
|
DYS002 |
Dysplastic Nevus Syndrome |
48 |
1410 |
P
|
PNC035 |
Pancreatic Cancer |
91 |
1411 |
P
|
HYP724 |
Hyperlipoproteinemia, Type Iii |
72 |
1412 |
c
|
NMN015 |
Niemann-Pick Disease, Type C1 |
71 |
1413 |
P
|
LVR013 |
Liver Disease |
71 |
1414 |
|
THY111 |
Thyroid Carcinoma, Familial Medullary |
69 |
1415 |
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
1416 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
1417 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
66 |
1418 |
P
|
HYP609 |
Hypophosphatemic Rickets, X-Linked Dominant |
66 |
1419 |
c
|
NMN013 |
Niemann-Pick Disease, Type a |
66 |
1420 |
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
1421 |
|
HYP056 |
Hypoglycemia |
65 |
1422 |
|
SPT006 |
Septooptic Dysplasia |
65 |
1423 |
|
OVR029 |
Ovarian Hyperstimulation Syndrome |
65 |
1424 |
P
|
ABD014 |
Abdominal Obesity-Metabolic Syndrome 1 |
64 |
1425 |
|
LRN002 |
Laron Syndrome |
63 |
1426 |
|
AND002 |
Androgen Insensitivity Syndrome |
63 |
1427 |
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
63 |
1428 |
c
|
HYP798 |
Hypophosphatemic Rickets, X-Linked Recessive |
63 |
1429 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
63 |
1430 |
|
PRG017 |
Paraganglioma and Gastric Stromal Sarcoma |
63 |
1431 |
c
|
NMN016 |
Niemann-Pick Disease, Type B |
62 |
1432 |
|
CHN055 |
Chanarin-Dorfman Syndrome |
62 |
1433 |
|
BTT017 |
Beta-Thalassemia Major |
61 |
1434 |
P
|
TMR018 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
61 |
1435 |
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
1436 |
|
PRC038 |
Precocious Puberty, Male-Limited |
60 |
1437 |
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
60 |
1438 |
P
|
HYP535 |
Hypogonadotropic Hypogonadism 7 with or Without Anosmia |
60 |
1439 |
|
DBT084 |
Diabetes Mellitus, Ketosis-Prone |
60 |
1440 |
P
|
NMN002 |
Niemann-Pick Disease |
60 |
1441 |
|
CFF002 |
Coffin-Lowry Syndrome |
59 |
1442 |
|
CYS010 |
Cystinosis |
59 |
1443 |
P
|
PLY011 |
Polycystic Ovary Syndrome |
59 |
1444 |
|
HSH003 |
Hashimoto Thyroiditis |
59 |
1445 |
c
|
HYP843 |
Hypoalphalipoproteinemia, Primary, 2 |
59 |
1446 |
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
59 |
1447 |
c
|
CRD177 |
Ceroid Lipofuscinosis, Neuronal, 1 |
58 |
1448 |
|
ISL014 |
Isolated Growth Hormone Deficiency, Type Ia |
58 |
1449 |
c
|
PRM005 |
Primary Hyperparathyroidism |
58 |
1450 |
P
|
MLT074 |
Multiple Endocrine Neoplasia |
57 |
1451 |
|
ADR049 |
Adrenal Hypoplasia, Congenital |
57 |
1452 |
c
|
HYP740 |
Hyperlipoproteinemia, Type V |
57 |
1453 |
P
|
CRP023 |
Carpenter Syndrome 1 |
57 |
1454 |
c
|
ACT134 |
Acute Liver Failure |
57 |
1455 |
|
CRC006 |
Carcinoid Syndrome |
57 |
1456 |
|
END002 |
Endometrioid Ovary Carcinoma |
57 |
1457 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
56 |
1458 |
P
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
56 |
1459 |
|
ADR056 |
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete |
56 |
1460 |
|
GST112 |
Gastrointestinal Defects and Immunodeficiency Syndrome 1 |
56 |
1461 |
|
HYP081 |
Hypolipoproteinemia |
56 |
1462 |
|
PNL019 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities |
56 |
1463 |
|
GLB001 |
Gilbert Syndrome |
55 |
1464 |
c
|
CRD259 |
Ceroid Lipofuscinosis, Neuronal, 6a |
55 |
1465 |
|
OVR044 |
Ovarian Carcinosarcoma |
55 |
1466 |
|
CRB186 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to |
55 |
1467 |
c
|
MCR240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
54 |
1468 |
|
SRM004 |
Serum Amyloid a Amyloidosis |
54 |
1469 |
|
PGT003 |
Paget Disease, Extramammary |
54 |
1470 |
|
ACT238 |
Acth Deficiency, Isolated |
53 |
1471 |
P
|
LSS037 |
Lissencephaly, X-Linked, 2 |
53 |
1472 |
c
|
HYP739 |
Hyperlipoproteinemia, Type Iv |
53 |
1473 |
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
53 |
1474 |
|
SMT003 |
Somatostatinoma |
53 |
1475 |
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
53 |
1476 |
c
|
MLT086 |
Multiple Endocrine Neoplasia, Type Iv |
53 |
1477 |
|
URC002 |
Urea Cycle Disorder |
52 |
1478 |
|
THY029 |
Thyroid Carcinoma |
52 |
1479 |
|
BRJ001 |
Borjeson-Forssman-Lehmann Syndrome |
52 |
1480 |
|
SCR037 |
Sucrase-Isomaltase Deficiency, Congenital |
52 |
1481 |
|
VTM033 |
Vitamin K Deficiency Bleeding |
52 |
1482 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
52 |
1483 |
c
|
HYP601 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
51 |
1484 |
P
|
PRS049 |
Persistent Mullerian Duct Syndrome |
51 |
1485 |
|
WRN002 |
Wernicke-Korsakoff Syndrome |
51 |
1486 |
c
|
DBT104 |
Diabetes Mellitus, Permanent Neonatal, 1 |
51 |
1487 |
|
THY123 |
Thyroid Gland Follicular Carcinoma |
51 |
1488 |
P
|
PRM030 |
Permanent Neonatal Diabetes Mellitus |
51 |
1489 |
|
ISL003 |
Isolated Growth Hormone Deficiency |
50 |
1490 |
P
|
PTT006 |
Pituitary Adenoma |
50 |
1491 |
|
ADR012 |
Adrenal Gland Disease |
49 |
1492 |
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
49 |
1493 |
c
|
CRD179 |
Ceroid Lipofuscinosis, Neuronal, 7 |
49 |
1494 |
c
|
HYP752 |
Hypocalciuric Hypercalcemia, Familial, Type I |
48 |
1495 |
|
NNT017 |
Neonatal Adrenoleukodystrophy |
48 |
1496 |
c
|
LSS036 |
Lissencephaly, X-Linked, 1 |
48 |
1497 |
P
|
TTR031 |
Tetraamelia Syndrome |
48 |
1498 |
|
ADR052 |
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency |
47 |
1499 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
47 |
1500 |
P
|
ATM019 |
Autoimmune Polyendocrine Syndrome |
47 |
1501 |
c
|
CRD166 |
Ceroid Lipofuscinosis, Neuronal, 11 |
47 |
1502 |
|
NRN001 |
Neuroendocrine Carcinoma |
46 |
1503 |
|
PNC118 |
Pancreas, Annular |
46 |
1504 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
45 |
1505 |
c
|
CRD181 |
Ceroid Lipofuscinosis, Neuronal, 8 |
45 |
1506 |
c
|
FML297 |
Familial Thyroid Dyshormonogenesis |
44 |
1507 |
|
WTK002 |
Witkop Syndrome |
44 |
1508 |
c
|
PLY105 |
Polycystic Ovary Syndrome 1 |
43 |
1509 |
|
WDM005 |
Wiedemann-Rautenstrauch Syndrome |
43 |
1510 |
c
|
CRD258 |
Ceroid Lipofuscinosis, Neuronal, 6b |
43 |
1511 |
c
|
HYP651 |
Hypogonadotropic Hypogonadism 23 with or Without Anosmia |
43 |
1512 |
|
TMP012 |
Temple Syndrome |
43 |
1513 |
P
|
OVR106 |
Ovarian Clear Cell Carcinoma |
43 |
1514 |
c
|
CRD239 |
Ceroid Lipofuscinosis, Neuronal, 13 |
43 |
1515 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
1516 |
|
EST007 |
Estrogen Resistance |
42 |
1517 |
P
|
TST026 |
Testicular Germ Cell Cancer |
42 |
1518 |
c
|
CRD257 |
Ceroid Lipofuscinosis, Neuronal, 4 |
42 |
1519 |
|
EMP001 |
Empty Sella Syndrome |
42 |
1520 |
|
LPS020 |
Lipase Deficiency, Combined |
42 |
1521 |
|
HRT040 |
Hirata Disease |
42 |
1522 |
|
PRP098 |
Proprotein Convertase 1/3 Deficiency |
42 |
1523 |
|
PNC008 |
Pancreatic Endocrine Carcinoma |
42 |
1524 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
41 |
1525 |
c
|
PRS128 |
Persistent Mullerian Duct Syndrome, Types I and Ii |
40 |
1526 |
|
THY124 |
Thyroid Gland Papillary Carcinoma |
40 |
1527 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
40 |
1528 |
|
SYR002 |
Syringocystadenoma Papilliferum |
40 |
1529 |
c
|
LPD036 |
Lipodystrophy, Familial Partial, Type 6 |
40 |
1530 |
|
DBT020 |
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans |
39 |
1531 |
|
48X003 |
48,xxyy Syndrome |
39 |
1532 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
39 |
1533 |
|
OST004 |
Osteitis Fibrosa |
38 |
1534 |
|
DYS017 |
Dysgerminoma of Ovary |
38 |
1535 |
|
ECC004 |
Eccrine Porocarcinoma |
38 |
1536 |
c
|
ABD013 |
Abdominal Obesity-Metabolic Syndrome 3 |
38 |
1537 |
|
HYP856 |
Hypothyroidism, Central, with Testicular Enlargement |
37 |
1538 |
|
OVR054 |
Ovarian Mucinous Neoplasm |
36 |
1539 |
|
DNC004 |
Diencephalic Syndrome |
36 |
1540 |
|
RCT005 |
Rectum Neuroendocrine Neoplasm |
36 |
1541 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
36 |
1542 |
c
|
ADL066 |
Adult Neuronal Ceroid Lipofuscinosis |
36 |
1543 |
|
CHR525 |
Chromosome Xq26.3 Duplication Syndrome |
36 |
1544 |
c
|
WLF011 |
Wolfram-Like Syndrome, Autosomal Dominant |
35 |
1545 |
|
PNC039 |
Pancreatic Cystadenoma |
35 |
1546 |
|
HSH004 |
Hashimoto Encephalopathy |
34 |
1547 |
|
NNF007 |
Non-Functioning Pituitary Adenoma |
34 |
1548 |
c
|
CRP022 |
Carpenter Syndrome 2 |
34 |
1549 |
c
|
MLG059 |
Malignant Struma Ovarii |
34 |
1550 |
|
OPT032 |
Optic Pathway Glioma |
34 |
1551 |
|
ADR014 |
Adrenal Medulla Cancer |
33 |
1552 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
33 |
1553 |
|
PNC006 |
Pancreatic Somatostatinoma |
33 |
1554 |
|
PNC010 |
Pancreatic Signet Ring Cell Adenocarcinoma |
32 |
1555 |
c
|
PTT060 |
Pituitary Adenoma 5, Multiple Types |
32 |
1556 |
c
|
CRD216 |
Ceroid Lipofuscinosis, Neuronal, 9 |
32 |
1557 |
c
|
INF194 |
Infantile Liver Failure Syndrome |
31 |
1558 |
|
ANL014 |
Anal Canal Adenocarcinoma |
31 |
1559 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
31 |
1560 |
|
TTR013 |
Tetrasomy X |
30 |
1561 |
|
HYP344 |
Hyperthyroidism, Familial Gestational |
30 |
1562 |
c
|
DBT107 |
Diabetes Mellitus, Permanent Neonatal, 4 |
29 |
1563 |
|
OVR015 |
Ovarian Mixed Germ Cell Neoplasm |
29 |
1564 |
|
GRW026 |
Growth Hormone Insensitivity, Partial |
29 |
1565 |
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
29 |
1566 |
|
BSP001 |
Basophil Adenoma |
29 |
1567 |
|
MMS001 |
Momo Syndrome |
29 |
1568 |
|
PRM183 |
Primary Aldosteronism, Seizures, and Neurologic Abnormalities |
28 |
1569 |
|
PPL003 |
Papillary Cystadenocarcinoma |
28 |
1570 |
|
KWR001 |
Kowarski Syndrome |
28 |
1571 |
c
|
DBT105 |
Diabetes Mellitus, Permanent Neonatal, 2 |
27 |
1572 |
|
ADR003 |
Adrenal Neuroblastoma |
27 |
1573 |
c
|
TMR020 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
27 |
1574 |
c
|
MLG168 |
Malignant Exocrine Pancreas Neoplasm |
27 |
1575 |
|
TST003 |
Testicular Leukemia |
27 |
1576 |
c
|
HYP819 |
Hyperlipoproteinemia, Type Id |
26 |
1577 |
c
|
TMR019 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
26 |
1578 |
|
NRN044 |
Neuroendocrine Carcinoma of Pancreas |
26 |
1579 |
c
|
TTR028 |
Tetraamelia Syndrome 1 |
26 |
1580 |
|
MLG076 |
Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
26 |
1581 |
|
PNH005 |
Panhypopituitarism, X-Linked |
26 |
1582 |
c
|
DBT106 |
Diabetes Mellitus, Permanent Neonatal, 3 |
26 |
1583 |
|
TCK002 |
Tick Paralysis |
25 |
1584 |
c
|
LVR033 |
Liver Disease, Severe Congenital |
25 |
1585 |
c
|
INF190 |
Infantile Liver Failure Syndrome 3 |
25 |
1586 |
c
|
TTR029 |
Tetraamelia Syndrome 2 |
25 |
1587 |
|
DSR074 |
Disorder of Purine Metabolism |
25 |
1588 |
|
PNC009 |
Pancreas Sarcoma |
24 |
1589 |
|
INT405 |
Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism |
24 |
1590 |
|
PNC011 |
Pancreatic Vasoactive Intestinal Peptide Producing Tumor |
24 |
1591 |
|
MXD024 |
Mixed Epithelial Tumor of Ovary |
24 |
1592 |
|
ANS010 |
Anus Adenocarcinoma |
24 |
1593 |
c
|
MCR331 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
23 |
1594 |
|
DDN028 |
Duodenal Neuroendocrine Tumor |
23 |
1595 |
|
PNC024 |
Pancreatic Colloid Cystadenoma |
23 |
1596 |
|
TRH001 |
Trehalase Deficiency |
23 |
1597 |
|
MSC129 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
22 |
1598 |
|
GRW032 |
Growth Factors, Combined Defect of |
22 |
1599 |
|
NRN047 |
Neuroendocrine Neoplasm of Pancreas |
22 |
1600 |
|
MLP006 |
Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type |
22 |
1601 |
|
MYT025 |
Myotubular Myopathy with Abnormal Genital Development |
22 |
1602 |
|
LYM123 |
Lymphedema-Hypoparathyroidism Syndrome |
21 |
1603 |
|
BSL043 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
21 |
1604 |
|
OVR039 |
Ovarian Mesodermal Adenosarcoma |
21 |
1605 |
|
THY126 |
Thyroid Gland Mucoepidermoid Carcinoma |
21 |
1606 |
|
NRN045 |
Neuroendocrine Neoplasm of Appendix |
20 |
1607 |
|
OVR061 |
Ovary Sarcoma |
19 |
1608 |
|
DSR026 |
Disorder of Tyrosine Metabolism |
19 |
1609 |
|
ACN028 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
19 |
1610 |
c
|
ABD015 |
Abdominal Obesity-Metabolic Syndrome 4 |
19 |
1611 |
|
HRD017 |
Hordeolum Externum |
19 |
1612 |
|
GST111 |
Gastroenteropancreatic Neuroendocrine Neoplasm |
19 |
1613 |
|
MYX002 |
Myxoid Liposarcoma of the Ovary |
18 |
1614 |
|
ADR035 |
Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion |
18 |
1615 |
|
OVR020 |
Ovarian Wilms' Cancer |
18 |
1616 |
|
HGH030 |
High-Grade Neuroendocrine Carcinoma of the Cervix Uteri |
18 |
1617 |
|
SYN116 |
Syndromic Obesity |
17 |
1618 |
|
RTV002 |
Rete Ovarii Adenocarcinoma |
17 |
1619 |
|
GLL034 |
Gallbladder Neuroendocrine Tumor |
16 |
1620 |
|
BRC092 |
Brachytelephalangy with Characteristic Facies and Kallmann Syndrome |
16 |
1621 |
c
|
AKT001 |
Akt2-Related Familial Partial Lipodystrophy |
16 |
1622 |
|
INT226 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
16 |
1623 |
|
KLL013 |
Kallmann Syndrome-Heart Disease Syndrome |
15 |
1624 |
c
|
MYC055 |
Mycobacterium Tuberculosis 3 |
14 |
1625 |
c
|
MYC054 |
Mycobacterium Tuberculosis 2 |
13 |
1626 |
|
OVR055 |
Ovarian Papillary Neoplasm |
13 |
1627 |
|
DSR023 |
Disorder of Tryptophan Metabolism |
12 |
1628 |
|
DSR078 |
Disorder of Branched-Chain Amino Acid Metabolism |
12 |
1629 |
|
MDD017 |
Middle Ear Neuroendocrine Tumor |
12 |
1630 |
|
MLG170 |
Malignant Childhood Adrenal Gland Pheochromocytoma |
12 |
1631 |
|
OTH021 |
Other Metabolic Disease |
12 |
1632 |
|
NRN043 |
Neuroendocrine Neoplasm of Esophagus |
11 |
1633 |
|
OBS068 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
11 |
1634 |
c
|
CPR005 |
Cpe-Related Prader-Willi-Like Syndrome |
9 |
1635 |
|
FML360 |
Familial Apolipoprotein A5 Deficiency |
8 |
1636 |
|
CHL008 |
Childhood Ovarian Endodermal Sinus Tumor |
8 |
1637 |
|
CHL064 |
Childhood Testicular Mixed Germ Cell Tumor |
6 |
1638 |
|
PNC029 |
Pancreatic Acth Hormone Producing Tumor |
6 |
1639 |
|
CHL011 |
Childhood Immature Teratoma of Ovary |
6 |
1640 |
|
DSR021 |
Disorder of Lysine and Hydroxylysine Metabolism |
6 |
1641 |
|
WLL020 |
Well-Differentiated Thymic Neuroendocrine Carcinoma |
6 |
1642 |
|
MLG046 |
Malignant Acth Producing Neoplasm of Pituitary Gland |
5 |
1643 |
|
OVR028 |
Ovarian Squamous Cell Neoplasm |
5 |
1644 |
|
DSR058 |
Disorder of Sialic Acid Metabolism |
5 |
1645 |
c
|
46X072 |
46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect |
5 |
1646 |
|
TBL005 |
Tubular Variant Testicular Seminoma |
5 |
1647 |
|
MCR003 |
Macrocystic Pattern Testicular Yolk Sac Tumor |
5 |
1648 |
|
PPL012 |
Papillary Pattern Testicular Yolk Sac Tumor |
5 |
1649 |
|
MYX003 |
Myxomatous Pattern Testicular Yolk Sac Tumor |
5 |
1650 |
|
PSD013 |
Pseudoglandular Variant Testicular Seminoma |
5 |
1651 |
|
DSR075 |
Disorder of Pyridoxine Metabolism |
5 |
1652 |
|
OST010 |
Osteoclast-Like Giant Cell Neoplasm of the Pancreas |
4 |
1653 |
|
PTT068 |
Pituitary Hormone Deficiency of Vascular Origin |
4 |
1654 |
|
PNC021 |
Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma |
4 |
1655 |
|
HPT013 |
Hepatoid Pattern Testicular Yolk Sac Tumor |
4 |
1656 |
|
TST041 |
Testicular Germ Cell Tumor Non-Seminomatous |
4 |
1657 |
|
DSR034 |
Disorder of Pterin Metabolism |
4 |
1658 |
|
RRD070 |
Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism |
4 |
1659 |
|
RRP020 |
Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly |
4 |
1660 |
|
PTT067 |
Pituitary Hormone Deficiency of Tumoral Origin |
4 |
1661 |
|
46X070 |
46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess |
4 |
1662 |
|
46X078 |
46,xx Disorder of Sex Development Induced by Androgens Excess |
4 |
1663 |
|
GST109 |
Gastroenteric Neuroendocrine Neoplasm |
3 |
1664 |
|
RRS005 |
Rare Syndromic Dyslipidemia |
3 |
1665 |
|
END035 |
Endocrine Gland Cancer |
48 |
1666 |
|
DCR011 |
Dicer1 Syndrome |
49 |
1667 |
P
|
BDY004 |
Body Mass Index Quantitative Trait Locus 11 |
82 |
1668 |
c
|
MNN043 |
Meningioma, Familial |
81 |
1669 |
|
INS024 |
Insulin-Like Growth Factor I |
77 |
1670 |
|
SCH036 |
Scheie Syndrome |
75 |
1671 |
P
|
PLY014 |
Polycystic Kidney Disease |
70 |
1672 |
c
|
HYP768 |
Hyperlipoproteinemia, Type I |
69 |
1673 |
|
LGH007 |
Leigh Syndrome |
69 |
1674 |
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
69 |
1675 |
c
|
MLT160 |
Multiple Endocrine Neoplasia, Type Iia |
68 |
1676 |
|
IMM106 |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked |
67 |
1677 |
|
MRK001 |
Merkel Cell Carcinoma |
67 |
1678 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1679 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
67 |
1680 |
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
67 |
1681 |
P
|
PLL001 |
Pallister-Hall Syndrome |
66 |
1682 |
|
ACH022 |
Achalasia-Addisonianism-Alacrima Syndrome |
66 |
1683 |
c
|
GM1007 |
Gm1 Gangliosidosis |
66 |
1684 |
|
HYP020 |
Hyperprolactinemia |
64 |
1685 |
|
PTT046 |
Pituitary Hormone Deficiency, Combined, 2 |
63 |
1686 |
P
|
HYP838 |
Hyperlipidemia, Familial Combined, 3 |
62 |
1687 |
P
|
CMP005 |
Campomelic Dysplasia |
62 |
1688 |
c
|
CHL132 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
62 |
1689 |
P
|
HYP818 |
Hypobetalipoproteinemia, Familial, 1 |
62 |
1690 |
|
CHY002 |
Chylomicron Retention Disease |
62 |
1691 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
61 |
1692 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
1693 |
c
|
HYP731 |
Hyperaldosteronism, Familial, Type I |
60 |
1694 |
c
|
CHL134 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
60 |
1695 |
|
ADR005 |
Adrenal Carcinoma |
60 |
1696 |
P
|
46X052 |
46,xx Sex Reversal 1 |
59 |
1697 |
|
INS001 |
Insulinoma |
59 |
1698 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
1699 |
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
59 |
1700 |
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
58 |
1701 |
|
IRN002 |
Iron Metabolism Disease |
58 |
1702 |
|
AND020 |
Androgen Insensitivity, Partial |
57 |
1703 |
|
SJG002 |
Sjogren-Larsson Syndrome |
57 |
1704 |
c
|
PSD122 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
57 |
1705 |
|
MND021 |
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
57 |
1706 |
|
ACR056 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
56 |
1707 |
c
|
GM2005 |
Gm2-Gangliosidosis, Ab Variant |
56 |
1708 |
|
CMP034 |
Complete Androgen Insensitivity Syndrome |
56 |
1709 |
c
|
GM1004 |
Gm1-Gangliosidosis, Type I |
55 |
1710 |
c
|
CHL137 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
54 |
1711 |
|
CLR029 |
Clark-Baraitser Syndrome |
54 |
1712 |
|
ARM004 |
Aromatase Excess Syndrome |
54 |
1713 |
c
|
BDY021 |
Body Mass Index Quantitative Trait Locus 20 |
53 |
1714 |
|
PRS127 |
Pearson Marrow-Pancreas Syndrome |
53 |
1715 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
1716 |
c
|
GM1005 |
Gm1-Gangliosidosis, Type Ii |
52 |
1717 |
|
GNG002 |
Ganglioneuroma |
52 |
1718 |
c
|
BDY020 |
Body Mass Index Quantitative Trait Locus 19 |
52 |
1719 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
1720 |
|
THM002 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
51 |
1721 |
P
|
INT001 |
Intrahepatic Cholestasis |
51 |
1722 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1723 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
50 |
1724 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
1725 |
P
|
TRM004 |
Trimethylaminuria |
49 |
1726 |
|
HMC001 |
Homocarnosinosis |
49 |
1727 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
1728 |
|
APP009 |
Appendix Adenocarcinoma |
49 |
1729 |
P
|
GNG009 |
Gangliosidosis |
49 |
1730 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
1731 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
1732 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
1733 |
|
PRL019 |
Prolidase Deficiency |
47 |
1734 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
1735 |
c
|
GM1006 |
Gm1-Gangliosidosis, Type Iii |
47 |
1736 |
c
|
BDY005 |
Body Mass Index Quantitative Trait Locus 9 |
47 |
1737 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
47 |
1738 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
1739 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
1740 |
c
|
BDY019 |
Body Mass Index Quantitative Trait Locus 18 |
47 |
1741 |
c
|
PSD092 |
Pseudohypoaldosteronism, Type Iie |
47 |
1742 |
P
|
PSD003 |
Pseudohypoaldosteronism |
46 |
1743 |
|
PSD021 |
Pseudovaginal Perineoscrotal Hypospadias |
46 |
1744 |
|
STT007 |
Steatocystoma Multiplex |
46 |
1745 |
|
SPH010 |
Sphingolipidosis |
46 |
1746 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
1747 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
46 |
1748 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
1749 |
P
|
LYD011 |
Leydig Cell Hypoplasia |
45 |
1750 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
1751 |
c
|
BDY010 |
Body Mass Index Quantitative Trait Locus 4 |
45 |
1752 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
1753 |
c
|
GM2006 |
Gm2 Gangliosidosis |
45 |
1754 |
c
|
BDY017 |
Body Mass Index Quantitative Trait Locus 14 |
45 |
1755 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
45 |
1756 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
1757 |
c
|
BDY015 |
Body Mass Index Quantitative Trait Locus 12 |
45 |
1758 |
c
|
BDY011 |
Body Mass Index Quantitative Trait Locus 10 |
44 |
1759 |
|
GST004 |
Gastric Neuroendocrine Neoplasm |
44 |
1760 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
1761 |
|
CRN055 |
Carney Triad |
44 |
1762 |
c
|
HYP753 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
43 |
1763 |
|
BCH003 |
Boucher-Neuhauser Syndrome |
43 |
1764 |
c
|
OVR058 |
Ovarian Small Cell Carcinoma |
43 |
1765 |
c
|
CHL143 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
43 |
1766 |
|
TST004 |
Testicular Lymphoma |
43 |
1767 |
c
|
BDY006 |
Body Mass Index Quantitative Trait Locus 8 |
43 |
1768 |
c
|
BDY012 |
Body Mass Index Quantitative Trait Locus 7 |
43 |
1769 |
c
|
CHL118 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
43 |
1770 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
1771 |
|
ISL015 |
Isolated Growth Hormone Deficiency, Type Ib |
42 |
1772 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
1773 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
1774 |
c
|
HYP290 |
Hypobetalipoproteinemia, Familial, 2 |
42 |
1775 |
c
|
CHL091 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
42 |
1776 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
1777 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
1778 |
|
CHR661 |
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction |
41 |
1779 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
1780 |
|
GBL002 |
Goblet Cell Carcinoid |
40 |
1781 |
|
DSR012 |
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency |
40 |
1782 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
1783 |
|
CHR704 |
Chromosome 16p11.2 Deletion Syndrome |
40 |
1784 |
c
|
HYP881 |
Hypogonadotropic Hypogonadism 24 with or Without Anosmia |
40 |
1785 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
1786 |
|
OBS081 |
Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair |
40 |
1787 |
|
OVR026 |
Ovary Transitional Cell Carcinoma |
40 |
1788 |
|
ENC038 |
Encephalopathy, Progressive, with or Without Lipodystrophy |
39 |
1789 |
|
SML041 |
Small-Cell Carcinoma of the Ovary of Hypercalcemic Type |
39 |
1790 |
P
|
SPR013 |
Spiradenoma |
39 |
1791 |
|
OVR011 |
Ovarian Mucinous Adenocarcinoma |
38 |
1792 |
c
|
PLL017 |
Pallister-Hall-Like Syndrome |
38 |
1793 |
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
38 |
1794 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
37 |
1795 |
|
ISL122 |
Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia |
37 |
1796 |
|
FML285 |
Familial Apolipoprotein C-Ii Deficiency |
37 |
1797 |
|
BLD050 |
Bladder Urachal Carcinoma |
36 |
1798 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
36 |
1799 |
P
|
NRL038 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 |
36 |
1800 |
|
OVR123 |
Ovarian Seromucinous Carcinoma |
36 |
1801 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
1802 |
c
|
LPD030 |
Lipodystrophy, Familial Partial, Type 5 |
36 |
1803 |
|
TMR017 |
Tumoral Calcinosis, Normophosphatemic, Familial |
36 |
1804 |
c
|
PSD080 |
Pseudohypoaldosteronism Type 1 |
36 |
1805 |
P
|
OVR010 |
Ovarian Brenner Tumor |
35 |
1806 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
1807 |
|
NVL003 |
Nivelon-Nivelon-Mabille Syndrome |
35 |
1808 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
1809 |
P
|
BNG002 |
Benign Meningioma |
35 |
1810 |
|
OVR051 |
Ovarian Endodermal Sinus Tumor |
35 |
1811 |
|
HYP249 |
Hyperthyroidism, Nonautoimmune |
34 |
1812 |
|
DTH005 |
Diethylstilbestrol Syndrome |
34 |
1813 |
|
PNC002 |
Pancreatic Mucinous Cystadenoma |
34 |
1814 |
|
BLD173 |
Bladder Small Cell Carcinoma |
34 |
1815 |
|
OVR062 |
Ovary Serous Adenocarcinoma |
34 |
1816 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
1817 |
|
OVR050 |
Ovarian Embryonal Carcinoma |
34 |
1818 |
c
|
PSD093 |
Pseudohypoaldosteronism, Type Iid |
33 |
1819 |
c
|
HYP839 |
Hyperlipidemia, Familial Combined, 1 |
32 |
1820 |
|
PLS002 |
Peliosis Hepatis |
32 |
1821 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
1822 |
P
|
KNN002 |
Kenny-Caffey Syndrome |
32 |
1823 |
|
RPD006 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
32 |
1824 |
c
|
FML355 |
Familial Intrahepatic Cholestasis |
31 |
1825 |
|
OVR060 |
Ovary Epithelial Cancer |
31 |
1826 |
|
OVR005 |
Ovarian Large-Cell Neuroendocrine Carcinoma |
31 |
1827 |
c
|
LCL022 |
Localized Lipodystrophy |
30 |
1828 |
|
PTT047 |
Pituitary Hormone Deficiency, Combined, 3 |
29 |
1829 |
c
|
PLY176 |
Polycystic Kidney Disease 4 |
29 |
1830 |
|
PNL023 |
Penile Agenesis |
29 |
1831 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
29 |
1832 |
|
PNC042 |
Pancreatic Intraductal Papillary-Colloid Carcinoma |
29 |
1833 |
|
ECT089 |
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia |
29 |
1834 |
c
|
PSD104 |
Pseudohypoparathyroidism, Type Ii |
29 |
1835 |
c
|
MLG036 |
Malignant Spiradenoma |
29 |
1836 |
|
46X083 |
46,xy Gonadal Dysgenesis with Minifascicular Neuropathy |
28 |
1837 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
1838 |
c
|
NRL039 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 |
28 |
1839 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
1840 |
|
PNC014 |
Pancreatic Serous Cystadenocarcinoma |
27 |
1841 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
27 |
1842 |
|
ILL008 |
Ileal Neuroendocrine Tumor |
27 |
1843 |
|
GMM004 |
Gamma-Amino Butyric Acid Metabolism Disorder |
27 |
1844 |
|
FML211 |
Familial Papillary or Follicular Thyroid Carcinoma |
27 |
1845 |
|
MTC025 |
Mitochondrial Myopathy with Diabetes |
27 |
1846 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
26 |
1847 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
1848 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
1849 |
P
|
OBS015 |
Obesity, Hyperphagia, and Developmental Delay |
25 |
1850 |
|
OVR103 |
Ovarian Endometrial Cancer |
25 |
1851 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1852 |
|
INT041 |
Intratubular Embryonal Carcinoma |
25 |
1853 |
c
|
PRD022 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 |
24 |
1854 |
P
|
VTM003 |
Vitamin Metabolic Disorder |
24 |
1855 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
1856 |
c
|
PLY141 |
Polycystic Kidney Disease 5 |
24 |
1857 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1858 |
c
|
PRM209 |
Primary Trimethylaminuria |
23 |
1859 |
c
|
CHL191 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
23 |
1860 |
|
PNC007 |
Pancreas Lymphoma |
22 |
1861 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
22 |
1862 |
c
|
CHL188 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
22 |
1863 |
c
|
CHL190 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
21 |
1864 |
|
SHR077 |
Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency |
20 |
1865 |
|
LPD041 |
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones |
19 |
1866 |
c
|
CHL186 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
19 |
1867 |
c
|
CHL193 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
18 |
1868 |
c
|
PLY189 |
Polycystic Kidney Disease 7 |
18 |
1869 |
|
FNC065 |
Functioning Neuroendocrine Tumor of Pancreas |
18 |
1870 |
c
|
SM1001 |
Sim1-Related Prader-Willi-Like Syndrome |
17 |
1871 |
|
OVR004 |
Ovary Neuroendocrine Neoplasm |
16 |
1872 |
|
OVR033 |
Ovary Papillary Carcinoma |
16 |
1873 |
|
6Q1002 |
6q16 Microdeletion Syndrome |
16 |
1874 |
|
ADR047 |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone |
16 |
1875 |
|
DGS008 |
Digestive System Melanoma |
16 |
1876 |
c
|
CMP100 |
Campomelic Dysplasia and Related Disorders |
16 |
1877 |
c
|
CHL192 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
16 |
1878 |
c
|
TST017 |
Testicular Malignant Germ Cell Cancer |
15 |
1879 |
c
|
HYP842 |
Hyperlipidemia, Familial Combined, 2 |
14 |
1880 |
|
XLN112 |
X-Linked Intellectual Disability, Cilliers Type |
14 |
1881 |
|
DMN034 |
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis |
12 |
1882 |
c
|
DSR027 |
Disorders of Vitamin D Metabolism |
12 |
1883 |
c
|
PSD124 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
12 |
1884 |
|
SPN082 |
Spina Bifida Hypospadias |
12 |
1885 |
c
|
GL3002 |
Gli3-Related Pallister-Hall Syndrome |
11 |
1886 |
c
|
PSD123 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
11 |
1887 |
c
|
APB002 |
Apob-Related Familial Hypobetalipoproteinemia |
11 |
1888 |
c
|
BDY009 |
Body Mass Index Quantitative Trait Locus 3 |
10 |
1889 |
c
|
MY5001 |
Myo5b-Related Progressive Familial Intrahepatic Cholestasis |
10 |
1890 |
|
MXD054 |
Mixed Neuroendocrine and Non-Neuroendocrine Neoplasm of Pancreas |
10 |
1891 |
|
SRT005 |
Serotonin-Producing Neuroendocrine Tumor of Pancreas |
10 |
1892 |
c
|
BDY016 |
Body Mass Index Quantitative Trait Locus 13 |
9 |
1893 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
1894 |
c
|
BDY008 |
Body Mass Index Quantitative Trait Locus 2 |
8 |
1895 |
c
|
BDY018 |
Body Mass Index Quantitative Trait Locus 15 |
8 |
1896 |
c
|
BDY013 |
Body Mass Index Quantitative Trait Locus 5 |
8 |
1897 |
c
|
BDY014 |
Body Mass Index Quantitative Trait Locus 6 |
8 |
1898 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1899 |
c
|
ERL064 |
Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome |
5 |
1900 |
|
ENT002 |
Enteric Pattern Testicular Yolk Sac Tumor |
5 |
1901 |
|
GLN005 |
Glandular-Alveolar Pattern Testicular Yolk Sac Tumor |
5 |
1902 |
c
|
46X077 |
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue |
5 |
1903 |
|
END005 |
Endodermal Sinus Pattern Testicular Yolk Sac Tumor |
4 |
1904 |
c
|
46X073 |
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect |
4 |
1905 |
c
|
ACT243 |
Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor |
3 |
1906 |
P
|
ATX030 |
Ataxia-Telangiectasia |
81 |
1907 |
|
PHN003 |
Phenylketonuria |
76 |
1908 |
c
|
PNC108 |
Pancreatitis, Hereditary |
70 |
1909 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
70 |
1910 |
|
LPD012 |
Lipoid Congenital Adrenal Hyperplasia |
70 |
1911 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
68 |
1912 |
|
HST017 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
67 |
1913 |
|
VLV032 |
Vulva Cancer |
66 |
1914 |
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
65 |
1915 |
|
CYS013 |
Cystinuria |
65 |
1916 |
c
|
CNG006 |
Congenital Hypothyroidism |
64 |
1917 |
P
|
SHR029 |
Short Syndrome |
63 |
1918 |
|
PRL009 |
Prolactinoma |
63 |
1919 |
P
|
PRD006 |
Prader-Willi Syndrome |
62 |
1920 |
|
LNG073 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
62 |
1921 |
c
|
SML009 |
Small Intestine Adenocarcinoma |
61 |
1922 |
|
LCT022 |
Lecithin:cholesterol Acyltransferase Deficiency |
60 |
1923 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
1924 |
|
RNL051 |
Renal Cysts and Diabetes Syndrome |
58 |
1925 |
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
57 |
1926 |
|
FRS002 |
Frasier Syndrome |
57 |
1927 |
c
|
RBN021 |
Rubinstein-Taybi Syndrome 1 |
57 |
1928 |
|
FML063 |
Familial Glucocorticoid Deficiency |
57 |
1929 |
c
|
PTT056 |
Pituitary Adenoma 1, Multiple Types |
55 |
1930 |
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
55 |
1931 |
|
ISL001 |
Islet Cell Tumor |
54 |
1932 |
|
CLL036 |
Culler-Jones Syndrome |
53 |
1933 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
52 |
1934 |
|
GLY031 |
Glycoproteinosis |
52 |
1935 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
1936 |
|
EPT010 |
Epithelial-Myoepithelial Carcinoma |
51 |
1937 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
51 |
1938 |
P
|
MND003 |
Mandibuloacral Dysplasia with Type a Lipodystrophy |
51 |
1939 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
1940 |
|
OHD005 |
Ohdo Syndrome, Sbbys Variant |
50 |
1941 |
c
|
XNT010 |
Xanthinuria, Type I |
50 |
1942 |
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
50 |
1943 |
c
|
ATM024 |
Autoimmune Pancreatitis |
48 |
1944 |
|
OVR059 |
Ovary Adenocarcinoma |
48 |
1945 |
|
OVR112 |
Ovarian Germ Cell Cancer |
48 |
1946 |
P
|
XNT004 |
Xanthinuria |
47 |
1947 |
|
GLC022 |
Glucose/galactose Malabsorption |
47 |
1948 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
46 |
1949 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
1950 |
c
|
HYP349 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
46 |
1951 |
|
IMM179 |
Immunodeficiency 31c |
46 |
1952 |
|
BTT018 |
Beta-Thalassemia Intermedia |
45 |
1953 |
c
|
SHR030 |
Short Qt Syndrome |
44 |
1954 |
|
ADR051 |
Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency |
44 |
1955 |
P
|
PRR025 |
Perrault Syndrome |
43 |
1956 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
43 |
1957 |
|
SPS204 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity |
43 |
1958 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
1959 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
42 |
1960 |
|
ADR022 |
Adrenomyeloneuropathy |
42 |
1961 |
c
|
XNT011 |
Xanthinuria, Type Ii |
40 |
1962 |
c
|
FML294 |
Familial Short Qt Syndrome |
40 |
1963 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1964 |
|
KRK001 |
Krukenberg Carcinoma |
40 |
1965 |
c
|
PSD117 |
Pseudohypoparathyroidism, Type Ic |
38 |
1966 |
c
|
DNT021 |
Dent Disease 2 |
38 |
1967 |
c
|
ATX040 |
Ataxia-Telangiectasia-Like Disorder 1 |
38 |
1968 |
c
|
LYD012 |
Leydig Cell Hypoplasia, Type I |
37 |
1969 |
c
|
PRR020 |
Perrault Syndrome 1 |
37 |
1970 |
|
ONC003 |
Oncogenic Osteomalacia |
37 |
1971 |
|
ANT042 |
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis |
36 |
1972 |
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
1973 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
1974 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
33 |
1975 |
|
CHR075 |
Choriocarcinoma of Ovary |
31 |
1976 |
|
EMB006 |
Embryonal Testis Carcinoma |
31 |
1977 |
c
|
PRR021 |
Perrault Syndrome 4 |
31 |
1978 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
1979 |
c
|
SHR032 |
Short Qt Syndrome 2 |
30 |
1980 |
c
|
SHR033 |
Short Qt Syndrome 3 |
29 |
1981 |
|
MCN020 |
Mucinous Cystadenocarcinoma of Pancreas |
28 |
1982 |
c
|
PRR024 |
Perrault Syndrome 3 |
27 |
1983 |
c
|
SHR031 |
Short Qt Syndrome 1 |
27 |
1984 |
|
PLY115 |
Polyendocrine-Polyneuropathy Syndrome |
26 |
1985 |
|
PRM205 |
Primary Hepatic Neuroendocrine Carcinoma |
26 |
1986 |
c
|
PRR022 |
Perrault Syndrome 2 |
26 |
1987 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
26 |
1988 |
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
25 |
1989 |
c
|
PRR026 |
Perrault Syndrome 5 |
25 |
1990 |
c
|
ATX041 |
Ataxia-Telangiectasia-Like Disorder 2 |
24 |
1991 |
|
THY065 |
Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia |
24 |
1992 |
|
NRN033 |
Neuroendocrine Tumor of the Colon |
24 |
1993 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1994 |
c
|
PRR033 |
Perrault Syndrome 6 |
21 |
1995 |
|
JJN009 |
Jejunal Neuroendocrine Tumor |
20 |
1996 |
|
NNF009 |
Non-Functioning Neuroendocrine Tumor of Pancreas |
20 |
1997 |
P
|
RBN007 |
Rubinstein Taybi Like Syndrome |
19 |
1998 |
|
HYP686 |
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies |
18 |
1999 |
P
|
LRG016 |
Large Intestine Adenocarcinoma |
16 |
2000 |
|
HYP494 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
16 |
2001 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
10 |
2002 |
|
CHL026 |
Childhood Ovarian Embryonal Carcinoma |
8 |
2003 |
|
CHL043 |
Childhood Embryonal Testis Carcinoma |
8 |
2004 |
|
CHL048 |
Childhood Teratocarcinoma of the Testis |
6 |
2005 |
|
LPT014 |
Leptin Deficiency or Dysfunction |
78 |
2006 |
|
MCC012 |
Mccune-Albright Syndrome |
71 |
2007 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
69 |
2008 |
|
CHR346 |
Chromosome 22q11.2 Deletion Syndrome, Distal |
67 |
2009 |
|
ALS001 |
Alstrom Syndrome |
66 |
2010 |
|
LPD008 |
Lipid Metabolism Disorder |
65 |
2011 |
|
PYR022 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
64 |
2012 |
|
DFF019 |
Diffuse Gastric Cancer |
62 |
2013 |
|
FRC011 |
Fructose Intolerance, Hereditary |
59 |
2014 |
|
PTT007 |
Pituitary Cancer |
59 |
2015 |
|
RBF001 |
Riboflavin Deficiency |
58 |
2016 |
|
VRG001 |
Variegate Porphyria |
57 |
2017 |
c
|
GLC111 |
Galactosemia Ii |
55 |
2018 |
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
54 |
2019 |
P
|
MRT010 |
Martsolf Syndrome 1 |
53 |
2020 |
c
|
46X082 |
46,xy Sex Reversal |
50 |
2021 |
|
49X006 |
49, Xxxxy Syndrome |
45 |
2022 |
c
|
HYP608 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
45 |
2023 |
|
ARM001 |
Aromatase Deficiency |
43 |
2024 |
|
PNC019 |
Pancreatoblastoma |
42 |
2025 |
c
|
KNN007 |
Kenny-Caffey Syndrome, Type 2 |
41 |
2026 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
40 |
2027 |
|
MHV001 |
Mahvash Disease |
38 |
2028 |
|
MCH011 |
Meacham Syndrome |
35 |
2029 |
|
CHN077 |
Chung-Jansen Syndrome |
34 |
2030 |
|
TST018 |
Testicular Yolk Sac Tumor |
34 |
2031 |
|
URC006 |
Urocanase Deficiency |
33 |
2032 |
|
KPP002 |
Keppen-Lubinsky Syndrome |
32 |
2033 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
32 |
2034 |
|
LPP002 |
Lipoprotein Glomerulopathy |
31 |
2035 |
|
IDP085 |
Idiopathic Infantile Hypercalcemia |
29 |
2036 |
|
CHR713 |
Chromosome Xq21 Deletion Syndrome |
27 |
2037 |
|
SML004 |
Small Intestine Neuroendocrine Neoplasm |
24 |
2038 |
c
|
MRT011 |
Martsolf Syndrome 2 |
22 |
2039 |
|
ECT069 |
Ectodermal Dysplasia 8, Hair/tooth/nail Type |
20 |
2040 |
|
CLB031 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
18 |
2041 |
|
PRM377 |
Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome |
4 |
2042 |
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
2043 |
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
2044 |
c
|
MLT156 |
Multiple Endocrine Neoplasia, Type I |
72 |
2045 |
P
|
SRC025 |
Sarcoidosis 1 |
71 |
2046 |
|
FBR012 |
Fabry Disease |
71 |
2047 |
c
|
BTT014 |
Beta-Thalassemia |
70 |
2048 |
|
DFF043 |
Diffuse Gastric and Lobular Breast Cancer Syndrome |
68 |
2049 |
c
|
PSD108 |
Pseudohypoparathyroidism, Type Ia |
67 |
2050 |
c
|
HYP794 |
Hyperoxaluria, Primary, Type I |
64 |
2051 |
c
|
ALP101 |
Alpha-Thalassemia |
63 |
2052 |
|
CRN036 |
Craniopharyngioma |
62 |
2053 |
P
|
THL005 |
Thalassemia |
62 |
2054 |
|
ALK013 |
Alkaptonuria |
61 |
2055 |
P
|
PRM002 |
Primary Hyperoxaluria |
60 |
2056 |
c
|
PSD066 |
Pseudohypoparathyroidism, Type Ib |
56 |
2057 |
|
LRN001 |
Laurence-Moon Syndrome |
56 |
2058 |
P
|
PSD015 |
Pseudohypoparathyroidism |
55 |
2059 |
P
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
54 |
2060 |
|
ADR042 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
54 |
2061 |
|
VPM001 |
Vipoma |
52 |
2062 |
c
|
HYP603 |
Hyperoxaluria, Primary, Type Iii |
52 |
2063 |
c
|
NNN010 |
Noonan Syndrome 3 |
52 |
2064 |
c
|
HYP602 |
Hyperoxaluria, Primary, Type Ii |
50 |
2065 |
c
|
SRC023 |
Sarcoidosis 2 |
50 |
2066 |
|
MHM001 |
Mehmo Syndrome |
49 |
2067 |
|
INT449 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
49 |
2068 |
|
PYR037 |
Pyruvate Carboxylase Deficiency |
48 |
2069 |
c
|
NNN009 |
Noonan Syndrome 2 |
44 |
2070 |
c
|
NNN012 |
Noonan Syndrome 5 |
42 |
2071 |
|
ADR048 |
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
42 |
2072 |
|
VNS015 |
Van Esch-O'driscoll Syndrome |
41 |
2073 |
c
|
NNN021 |
Noonan Syndrome 8 |
40 |
2074 |
c
|
NNN011 |
Noonan Syndrome 4 |
40 |
2075 |
c
|
NNN020 |
Noonan Syndrome 7 |
38 |
2076 |
c
|
NNN025 |
Noonan Syndrome 10 |
36 |
2077 |
c
|
NNN013 |
Noonan Syndrome 6 |
36 |
2078 |
|
IMM055 |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
35 |
2079 |
|
MNT318 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome |
35 |
2080 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
2081 |
c
|
NNN034 |
Noonan Syndrome 12 |
33 |
2082 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
31 |
2083 |
c
|
NNN036 |
Noonan Syndrome 13 |
31 |
2084 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
31 |
2085 |
|
STY001 |
Satoyoshi Syndrome |
31 |
2086 |
|
SHR124 |
Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures |
31 |
2087 |
c
|
NNN029 |
Noonan Syndrome 11 |
30 |
2088 |
c
|
ATS481 |
Autosomal Dominant Beta Thalassemia |
27 |
2089 |
c
|
NNN038 |
Noonan Syndrome 14 |
24 |
2090 |
c
|
SRC024 |
Sarcoidosis 3 |
18 |
2091 |
|
IMM129 |
Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis |
16 |
2092 |
c
|
ALP113 |
Alpha-Thalassemia and Related Disorders |
8 |
2093 |
c
|
BTT015 |
Beta-Thalassemia and Related Diseases |
7 |
2094 |
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
70 |
2095 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
67 |
2096 |
P
|
GLC113 |
Galactosemia I |
66 |
2097 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
65 |
2098 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
65 |
2099 |
c
|
MCP043 |
Mucopolysaccharidosis, Type Iiia |
64 |
2100 |
c
|
LPD015 |
Lipodystrophy, Familial Partial, Type 2 |
63 |
2101 |
c
|
MCP044 |
Mucopolysaccharidosis, Type Iiib |
62 |
2102 |
c
|
MCP045 |
Mucopolysaccharidosis, Type Iiic |
61 |
2103 |
|
HYP815 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome |
59 |
2104 |
|
BLP046 |
Blepharophimosis, Ptosis, and Epicanthus Inversus |
58 |
2105 |
|
PSD014 |
Pseudopseudohypoparathyroidism |
57 |
2106 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
56 |
2107 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
55 |
2108 |
c
|
GLC112 |
Galactosemia Iii |
53 |
2109 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
42 |
2110 |
c
|
MND002 |
Mandibuloacral Dysplasia with Type B Lipodystrophy |
38 |
2111 |
|
CTR140 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia |
33 |
2112 |
c
|
GLC115 |
Galactosemia Iv |
30 |
2113 |
c
|
MCP055 |
Mucopolysaccharidosis, Type X |
26 |
2114 |
P
|
TRN020 |
Turner Syndrome |
70 |
2115 |
P
|
DNT020 |
Dent Disease 1 |
63 |
2116 |
|
HYP880 |
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome |
59 |
2117 |
|
DNY001 |
Denys-Drash Syndrome |
59 |
2118 |
|
IMM246 |
Immunoglobulin Light Chain Amyloidosis |
57 |
2119 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
50 |
2120 |
|
GRD009 |
Gordon Holmes Syndrome |
49 |
2121 |
|
NST002 |
Nestor-Guillermo Progeria Syndrome |
37 |
2122 |
|
CHR103 |
Charge Syndrome |
66 |