Endocrine Diseases Category (1794 diseases)

Including: Pancreas, Adrenal, Hormones, Glands
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1		PNC120	Pancreas, Dorsal, Agenesis of	24
2		PNC048	Pancreatic Lipase Deficiency	28
3		SLV025	Salivary Gland Adenoma, Pleomorphic	36
4		LCR011	Lacrimal Gland Carcinoma	24
5		TRP008	Tropical Calcific Pancreatitis	46
6		3BT001	3-Beta-Hydroxysteroid Dehydrogenase Deficiency	41
7		ISL123	Isolated Growth Hormone Deficiency, Type Iv	29
8		SLV003	Salivary Gland Disease	39
9		SWT008	Sweat Gland Benign Neoplasm	31
10		OST141	Osteoclastic Giant Cell Tumor of Pancreas	18
11		NNC012	Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency	17
12		PRR005	Paraurethral Gland Cancer	10
13		MTR082	Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction	41
14		ANH004	Anhidrosis, Isolated, with Normal Sweat Glands	39
15		ISL124	Isolated Growth Hormone Deficiency, Type V	21
16		APL002	Aplasia of Lacrimal and Salivary Glands	56
17		BRT045	Bartholin's Gland Benign Neoplasm	27
18		SBC017	Sebaceous Gland Disease	40
19		HDR004	Hidradenoma	37
20		MTC096	Mitchell-Riley Syndrome	31
21	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	29
22		HLP031	Holoprosencephaly 12 with or Without Pancreatic Agenesis	24
23		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	23
24		PTT043	Pituitary Hormone Deficiency, Combined, 6	19
25		SLL001	Sialolithiasis	36
26		XLN182	X-Linked Cerebral Adrenoleukodystrophy	21
27		SLD011	Solid Pseudopapillary Carcinoma of Pancreas	29
28		MCC003	Mucocele of Salivary Gland	26
29		CNG298	Congenital Pancreatic Cyst	19
30		ATM078	Autoimmune Addison Disease	18
31		MLG051	Malignant Glandular Tumor of Peripheral Nerve Sheath	16
32		BRN010	Bronchial Mucus Gland Adenoma	6
33		PRR003	Paraurethral Gland Neoplasm	6
34		PLM014	Pleomorphic Adenoma	51
35		SLD003	Sialadenitis	48
36		ADR022	Adrenomyeloneuropathy	39
37	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	34
38		SWT003	Sweat Gland Disease	32
39		ACC005	Accessory Pancreas	19
40		GRW003	Growth Hormone Insensitivity with Immunodeficiency	16
41		HLX001	Helix Syndrome	48
42		GLN006	Glandular Cystitis	29
43		BRT012	Bartholin's Gland Adenoma	25
44		INT338	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency	25
45		PRT100	Parotid Gland Adenoid Cystic Carcinoma	21
46		BRT008	Bartholin's Gland Adenoid Cystic Carcinoma	20
47		BRT060	Bartholin's Gland Disease	19
48		BRT014	Bartholin's Duct Cyst	18
49		VGN021	Vaginal Glandular Tumor	14
50		THY118	Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1	9
51		BRT007	Bartholin's Gland Squamous Cell Carcinoma	9
52		BRT010	Bartholin's Gland Transitional Cell Carcinoma	6
53		BRT006	Bartholin's Gland Adenosquamous Carcinoma	6
54		MNR001	Minor Vestibular Glands Adenoma	6
55		BRT009	Bartholin's Gland Adenomyoma	6
56		VLV037	Vulvar Glandular Tumor	5
57	P	SPP010	Suppressor of Tumorigenicity 3	51
58		GRW007	Growth Hormone Deficiency	46
59		PNC056	Pineocytoma	44
60		CLS040	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency	37
61	c	NNS018	Nonsyndromic Paraganglioma	33
62		ADR001	Adrenal Rest Tumor	30
63		LCR006	Lacrimal Gland Adenoid Cystic Carcinoma	28
64		THY026	Thymus Gland Disease	27
65		SBM003	Submandibular Gland Disease	23
66	c	SPP012	Suppressor of Tumorigenicity 11	19
67		HYP705	Hyperadrenalism	18
68		PRL002	Prolapse of Lacrimal Gland	18
69		ENC043	Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration	17
70		ADN072	Adenoma of Pancreas	17
71		LCR002	Lacrimal Gland Mucoepidermoid Carcinoma	15
72		SQM014	Squamous Cell Carcinoma of Pancreas	14
73		HYP746	Hypersecretion of Adrenal Androgens, Familial	12
74		THY053	Thyroid Hormone Plasma Membrane Transport Defect	11
75		PRP074	Peripheral Resistance to Thyroid Hormones	10
76		DWR020	Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone	10
77		SLV014	Salivary Gland Type Cancer of the Breast	8
78		FLL045	Follicular Cholangitis and Pancreatitis	8
79		CRC037	Carcinoma of Esophagus, Salivary Gland Type	7
80		ANL002	Anal Gland Neoplasm	7
81		CHR002	Chronic Lacrimal Gland Enlargement	5
82		RRP011	Rare Epithelial Tumor of Pancreas	5
83		PNC054	Pancreatic Lipomatosis Duodenal Stenosis	4
84		ADN030	Adnexal Spiradenoma/cylindroma of a Sweat Gland	2
85	P	PRG013	Paraganglioma	57
86		GLN002	Glanders	38
87		MBM001	Meibomian Cyst	36
88		CYT014	Cytochrome P450 Oxidoreductase Deficiency	34
89		MKL001	Mikulicz Disease	41
90		ECC002	Eccrine Acrospiroma	36
91		LMB008	Limb-Mammary Syndrome	34
92		CHL075	Cheilitis Glandularis	24
93		VST005	Vestibular Gland Benign Neoplasm	22
94		PPL017	Papillary Hidradenoma	21
95		GLN001	Glandular Tularemia	18
96		PNC049	Pancreatic Adenoma	14
97		PRT122	Parotid Salivary Glands, Polycystic Dysgenetic Disease of	14
98		SBC022	Sebaceous Gland Hyperplasia, Familial Presenile	11
99		PNC055	Pancreatitis, Pediatric	7
100		LTT003	Littre Gland Carcinoma	5
101	c	SLV006	Salivary Gland Cancer, Adult	4
102		SBL007	Sublingual Gland Adenoid Cystic Carcinoma	4
103		MST005	Mastitis	53
104		PPL001	Papillary Adenoma	44
105		SBC009	Sebaceous Adenoma	36
106		GGN002	Gigantism	33
107		ATM061	Autoimmune Polyglandular Syndrome Type 3	28
108		FXF002	Fox-Fordyce Disease	26
109		ISL004	Isolated Gonadotropin-Releasing Hormone Deficiency	25
110		TRY003	Trypsinogen Deficiency	18
111		PHC017	Pheochromocytoma--Islet Cell Tumor Syndrome	17
112		PNC050	Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus	17
113		GLC107	Glucocorticoid Deficiency 5	17
114		PRP035	Prop1-Related Combined Pituitary Hormone Deficiency	15
115		PNC124	Pancreatitis, Sclerosing Cholangitis, and Sicca Complex	14
116		NR0002	Nr0b1-Related Adrenal Hypoplasia Congenita	13
117		INT381	Intraductal Tubulopapillary Neoplasm of Pancreas	13
118		IGG012	Igg4-Related Submandibular Gland Disease	12
119		ECT097	Ectodermal Dysplasia with Adrenal Cyst	11
120		URT019	Urethral Gland Abscess	11
121		HYP785	Hypohidrosis with Abnormal Palmar Dermal Ridges	11
122		ADR055	Adrenocortical Unresponsiveness to Acth with Postreceptor Defect	10
123		PNC022	Pancreatic Intraductal Papillary-Mucinous Adenoma	10
124		ADR050	Adrenocortical Hypofunction, Chronic Primary Congenital	9
125		ADR053	Adrenal Hypoplasia, Cytomegalic Type	8
126		FNC012	Functioning Pancreatic Endocrine Tumor	8
127		PNL001	Pineal Gland Astrocytoma	6
128		PNC125	Pancreatic Lymphoma, Familial	5
129		RRT012	Rare Tumor of Salivary Glands	5
130		BLN023	Bile and Pancreatic Ducts, Complete Absence of	4
131	c	RRF011	Rare Female Infertility Due to an Adrenal Disorder	3
132		TMR021	Tumor of Endocrine Glands	3
133		GNT052	Genetic Pancreatic Disease	2
134		GNT093	Genetic Sebaceous Gland Anomaly	2
135	c	HMC039	Hemochromatosis, Type 1	73
136	P	FRG001	Fragile X Syndrome	70
137		SMT004	Smith-Lemli-Opitz Syndrome	70
138		ACH022	Achalasia-Addisonianism-Alacrima Syndrome	64
139		HYP780	Hypoadrenocorticism, Familial	61
140		DNH001	Donohue Syndrome	61
141	c	HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	60
142		DBT087	Diabetes Insipidus, Neurohypophyseal	58
143	P	HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	57
144	P	THY032	Thyroiditis	57
145		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	57
146	P	RRH023	Rare Hereditary Hemochromatosis	54
147		HYP060	Hyperinsulinism	54
148	P	HYP076	Hyperthyroidism	53
149	c	HMC009	Hemochromatosis Type 2	53
150		GTR002	Goiter	53
151	c	HMC035	Hemochromatosis, Type 4	52
152		HDR003	Hidradenitis	50
153		HYP080	Hypogonadism	50
154	c	HMC010	Hemochromatosis, Type 3	49
155		NDL007	Nodular Goiter	48
156		HYP043	Hyperandrogenism	48
157		WDM005	Wiedemann-Rautenstrauch Syndrome	47
158	c	HYP243	Hyperparathyroidism 1	47
159		GYN001	Gynecomastia	47
160	c	HLP028	Holoprosencephaly 5	47
161		PSD009	Pseudohermaphroditism	46
162		NRM018	Normosmic Congenital Hypogonadotropic Hypogonadism	45
163		OHD005	Ohdo Syndrome, Sbbys Variant	45
164		DBT090	Diabetes and Deafness, Maternally Inherited	45
165		MRG013	Mirage Syndrome	44
166		ORC001	Orchitis	44
167		MYX004	Myxedema	43
168	c	HLP029	Holoprosencephaly 4	43
169	P	MLT008	Multinodular Goiter	42
170	c	MTR024	Maturity-Onset Diabetes of the Young, Type 7	41
171	c	HMC021	Hemochromatosis, Type 2a	41
172	c	HMC034	Hemochromatosis, Type 5	41
173		WDH003	Woodhouse-Sakati Syndrome	40
174	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	39
175	c	MTR075	Maturity-Onset Diabetes of the Young, Type 13	39
176		PTT003	Pituitary-Dependent Cushing's Disease	39
177		DSR012	Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency	39
178	P	STR021	Struma Ovarii	39
179	c	46X002	46 Xx Gonadal Dysgenesis	38
180		ETH004	Euthyroid Sick Syndrome	38
181	P	OVR075	Ovarian Dysgenesis 1	36
182		HYP070	Hyperpituitarism	36
183	c	HMC019	Hemochromatosis, Type 2b	36
184	c	MTR026	Maturity-Onset Diabetes of the Young, Type 9	35
185		HRM002	Hermaphroditism	35
186	P	PHC019	Pheochromocytoma-Paraganglioma	35
187		THY128	Thyroid Tumor	35
188		PLM011	Plummer's Disease	34
189		ADN064	Adenohypophysitis	34
190	c	45X001	45,x/46,xy Mixed Gonadal Dysgenesis	33
191	c	CNG562	Congenital Hypogonadotropic Hypogonadism	33
192		SPP005	Suppurative Thyroiditis	33
193		ACD001	Acidophil Adenoma	32
194	c	SHR032	Short Qt Syndrome 2	32
195		NNT010	Nontoxic Goiter	32
196		HYP029	Hyperthyroxinemia	32
197		PST014	Postsurgical Hypothyroidism	32
198		PTT010	Pituitary Infarct	32
199		ADN075	Adenomyoma	32
200	c	LCL022	Localized Lipodystrophy	32
201		LTM002	Luteoma	31
202	c	ECT065	Ectodermal Dysplasia 7, Hair/nail Type	31
203		THY001	Thyroid Crisis	30
204	c	TYP056	Type 1 Diabetes Mellitus 23	30
205	c	TYP036	Type 1 Diabetes Mellitus 12	29
206	c	HYP565	Hypogonadotropic Hypogonadism 3 with or Without Anosmia	29
207	c	OVR076	Ovarian Dysgenesis 2	28
208	c	ACT053	Acute Thyroiditis	28
209		NNT003	Neonatal Thyrotoxicosis	28
210		OVR057	Ovarian Serous Adenofibroma	27
211	c	46X048	46,xx Sex Reversal 2	27
212		OVR002	Ovarian Serous Cystadenofibroma	26
213	c	HYP488	Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function	26
214		PNH005	Panhypopituitarism, X-Linked	26
215		SBS002	Substernal Goiter	26
216	c	TYP035	Type 1 Diabetes Mellitus 11	26
217		CRP004	Corpus Luteum Cyst	25
218	c	HYP444	Hypogonadotropic Hypogonadism 9 with or Without Anosmia	25
219	c	ATM014	Autoimmune Disease of Endocrine System	24
220		IDN001	Iodine Hypothyroidism	24
221	c	PRM091	Premature Ovarian Failure 2b	24
222	c	ATM067	Autoimmune Polyendocrinopathy Type 3	24
223		TXC004	Toxic Diffuse Goiter	23
224	c	OVR107	Ovarian Dysgenesis 4	23
225		PLY115	Polyendocrine-Polyneuropathy Syndrome	23
226	P	SLP004	Salpingo-Oophoritis	23
227		ENC002	Eunuchism	23
228	c	BRS108	Breasts and/or Nipples, Aplasia or Hypoplasia of, 1	23
229	c	OVR102	Ovarian Dysgenesis 3	23
230	c	46X056	46,xy Sex Reversal 5	23
231		ATR009	Atrophy of Testis	22
232		LNG018	Lingual Goiter	22
233		PDT003	Pediatric Ovarian Dysgerminoma	22
234		MDL001	Medulloadrenal Hyperfunction	22
235		MCN010	Mucinous Cystadenofibroma	21
236	c	ATM066	Autoimmune Polyendocrinopathy Type 4	21
237	c	CHR018	Chronic Salpingo-Oophoritis	21
238	c	OVR119	Ovarian Dysgenesis 7	21
239	c	TFR001	Tfr2-Related Hereditary Hemochromatosis	21
240		OVR056	Ovarian Primitive Germ Cell Tumor	20
241	c	OVR115	Ovarian Dysgenesis 5	20
242		THY021	Thyroid Malformation	20
243		DYS008	Dyshormonogenic Goiter	20
244		THY020	Thyroid Hyalinizing Trabecular Adenoma	20
245	c	PRM191	Premature Ovarian Failure 9	19
246	c	OVR120	Ovarian Dysgenesis 8	19
247		NNC019	Non-Acquired Panhypopituitarism	19
248		ATY007	Atypical Follicular Adenoma	19
249		CLL011	Colloid Adenoma	19
250	P	PRM176	Premature Ovarian Failure 2a	19
251	P	BRS100	Breasts and/or Nipples, Aplasia or Hypoplasia of, 2	18
252		PRM331	Primary Hypophysitis	18
253		LTN011	Late-Onset Isolated Acth Deficiency	17
254		BMF002	Bamforth Syndrome	17
255	c	OVR118	Ovarian Dysgenesis 6	17
256		FRM001	Freemartinism	17
257	c	TYP051	Type 2 Diabetes Mellitus 4	17
258	c	PRM344	Premature Ovarian Failure 16	17
259		RDL003	Riedel's Fibrosing Thyroiditis	16
260		ABN002	Abnormality of Glucagon Secretion	16
261		HYP625	Hyperandrogenism Due to Cortisone Reductase Deficiency	15
262	c	KLL005	Kallmann Syndrome 3	15
263		OVR037	Ovarian Solid Teratoma	15
264	c	GTR013	Goiter, Multinodular 2	15
265		HYP482	Hyperinsulinism Due to Ucp2 Deficiency	14
266	c	CNG263	Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs	14
267		SYM015	Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers	13
268		KLL013	Kallmann Syndrome-Heart Disease Syndrome	13
269		CLR006	Clear Cell Cystadenofibroma	13
270		INH007	Inherited Thyroxine-Binding Globulin Deficiency	13
271	c	KLL008	Kallmann Syndrome 6	12
272		BRS039	Breast Fibroadenosis	12
273	c	ATM057	Autoimmune Thyroid Disease 2	12
274	c	GTR014	Goiter, Multinodular 3	12
275	c	PRM349	Premature Ovarian Failure 18	11
276		PST112	Post-Traumatic Pituitary Deficiency	11
277		IDP061	Idiopathic Congenital Hypothyroidism	10
278		NLL003	Null Pituitary Adenoma	10
279		GNT039	Genetic Transient Congenital Hypothyroidism	8
280		OVR038	Ovarian Fetiform Teratoma	8
281		INT279	Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome	8
282	P	OVR053	Ovarian Mucinous Adenofibroma	8
283		IDN004	Iodine Antenatal Exposure	8
284	c	SCN062	Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion	7
285		SYN101	Syndromic Hypothyroidism	6
286		PST024	Post-Surgical Hypoinsulinemia	6
287	c	TRN075	Transient Congenital Hypothyroidism Due to Maternal Factor	5
288	c	TRN076	Transient Congenital Hypothyroidism Due to Neonatal Factor	5
289		OVR007	Ovarian Endometrioid Cystadenoma	5
290	c	PRM362	Primary Ovarian Insufficiency 13	5
291	c	PRM350	Primary Ovarian Insufficiency 2a	4
292	c	PRM351	Primary Ovarian Insufficiency 2b	4
293	c	PRM360	Primary Ovarian Insufficiency 11	4
294	c	PRM363	Primary Ovarian Insufficiency 14	4
295	c	46X074	46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect	4
296		DZX003	Diazoxide-Resistant Diffuse Hyperinsulinism	4
297		CHN078	Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome	4
298		THY002	Thyrocalcitonin Secretion Disease	4
299		46X070	46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess	4
300		CNG594	Congenital Thyroid Malformation Without Hypothyroidism	4
301	P	46X065	46,xy Disorder of Gonadal Development	3
302		MLT176	Multiple Polyglandular Tumor	3
303	c	46X067	46,xx Disorder of Gonadal Development	3
304		SWT002	Sweat Gland Cancer	41
305		PNL014	Pineal Gland Cancer	40
306		BRT016	Bartholin's Gland Carcinoma	26
307		PRT009	Parotid Gland Cancer	33
308		BRT015	Bartholin's Gland Adenocarcinoma	29
309		ANL012	Anal Gland Adenocarcinoma	23
310	P	MCK013	Meckel Syndrome, Type 1	64
311	P	SLV026	Salivary Gland Carcinoma	58
312	c	MCK032	Meckel Syndrome, Type 3	49
313	c	MCK030	Meckel Syndrome, Type 7	49
314	c	MCK033	Meckel Syndrome, Type 4	47
315	c	MCK012	Meckel Syndrome, Type 6	46
316	c	MCK031	Meckel Syndrome, Type 2	45
317	c	MCK014	Meckel Syndrome, Type 5	45
318	c	MCK034	Meckel Syndrome, Type 8	42
319		SBM004	Submandibular Gland Cancer	30
320		MXD003	Mixed Lacrimal Gland Cancer	30
321	c	MCK035	Meckel Syndrome, Type 10	25
322	c	MCK028	Meckel Syndrome 13	25
323	c	MCK026	Meckel Syndrome 12	24
324	c	MCK036	Meckel Syndrome, Type 9	24
325	c	MCK020	Meckel Syndrome, Type 11	23
326		APC004	Apocrine Adenocarcinoma	37
327		SPH021	Sphingosine Phosphate Lyase Insufficiency Syndrome	15
328		SBC011	Sebaceous Adenocarcinoma	43
329		ACN026	Acinar Cell Carcinoma of Pancreas	27
330		SBL001	Sublingual Gland Cancer	9
331		LCR007	Lacrimal Gland Squamous Cell Carcinoma	8
332		SXH002	Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus	10
333	c	RNL092	Renal-Hepatic-Pancreatic Dysplasia 1	33
334		MRT009	Martinez-Frias Syndrome	21
335		LCR009	Lacrimal Gland Adenocarcinoma	20
336		BRT003	Bartholin's Gland Small Cell Carcinoma	7
337	P	PNB001	Pineoblastoma	49
338		GST051	Gastrointestinal Tuberculosis	36
339	P	RNL059	Renal-Hepatic-Pancreatic Dysplasia	34
340		SBC018	Sebaceous Gland Neoplasm	30
341	c	ADL025	Adult Pineoblastoma	20
342		APC009	Apocrine Gland Secretion, Variation in	19
343		RRT002	Rare Tumor of Pancreas	14
344		TNG006	Tunglang Savage Bellman Syndrome	14
345		STS005	Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas	9
346		RRC013	Rare Carcinoma of Pancreas	7
347	c	RNL095	Renal-Hepatic-Pancreatic Dysplasia 2	26
348	c	DBT091	Diabetes Insipidus, Nephrogenic, Autosomal	66
349	P	NTR004	Neutropenia	63
350	c	SVR003	Severe Congenital Neutropenia	59
351		ADN018	Adenoma	59
352		ADR038	Adermatoglyphia	51
353	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
354	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	37
355	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	37
356	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	36
357	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	34
358	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	28
359	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	27
360	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	26
361	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	26
362		STR088	Stratton-Parker Syndrome	21
363	c	NTR045	Neutropenia, Chronic Familial	21
364	c	SVR107	Severe Congenital Neutropenia 3	20
365	c	SVR103	Severe Congenital Neutropenia 1	20
366	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	18
367	P	HRD221	Hereditary Nephrogenic Diabetes Insipidus	17
368	c	SVR110	Severe Congenital Neutropenia 4	15
369	c	SVR106	Severe Congenital Neutropenia 5	14
370	c	ELN001	Elane-Related Neutropenia	13
371	c	ACQ053	Acquired Neutropenia	12
372	c	SVR105	Severe Congenital Neutropenia 2	11
373		SLV032	Salivary Gland Mucinous Adenocarcinoma	10
374	c	SVR108	Severe Congenital Neutropenia 6	9
375	c	SVR104	Severe Congenital Neutropenia 7	8
376		CWP002	Cowper Gland Carcinoma	7
377	P	ECT006	Ectodermal Dysplasia	63
378	P	ACN011	Acne	57
379	P	MLN007	Male Infertility	56
380		CYS014	Cystadenocarcinoma	51
381		ADN009	Adenosquamous Carcinoma	48
382		MCP006	Mucoepidermoid Carcinoma	48
383		MXD023	Mixed Cell Type Cancer	44
384		ANL011	Anal Canal Carcinoma	39
385		VRT016	Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction	33
386		GLC105	Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency	33
387		ENT006	Enterokinase Deficiency	33
388		ADN014	Adenomatoid Tumor	30
389		APC005	Apocrine Sweat Gland Neoplasm	29
390		ECC008	Eccrine Sweat Gland Neoplasm	26
391		ECC007	Eccrine Sweat Gland Cancer	23
392		ACN007	Acinar Cell Cystadenocarcinoma	20
393	c	ECT114	Ectodermal Dysplasia 10b	18
394	c	FML266	Female Infertility Due to Zona Pellucida Defect	18
395	c	MLN078	Male Infertility Due to Acephalic Spermatozoa	16
396	c	MLN081	Male Infertility Due to Sperm Motility Disorder	13
397	c	SVR109	Severe Congenital Neutropenia 8	11
398	c	MLN085	Male Infertility Due to Obstructive Azoospermia	10
399		ANH005	Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands	9
400	c	FML343	Female Infertility Due to Oocyte Meiotic Arrest	8
401	c	ACN029	Acne, Adult	7
402		BNG007	Benign Lymphoepithelial Lesion of Salivary Gland	7
403	c	RRM013	Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder	7
404		PLT032	Platelet Responsiveness to Adrenaline, Depressed	7
405	c	RRF009	Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder	7
406	c	RRM015	Rare Male Infertility	7
407	c	RRM010	Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin	6
408	P	RRF012	Rare Female Infertility	6
409		RRP030	Rare Pancreatic Disease	6
410		MLG134	Malignant Epithelial Tumor of Salivary Glands	6
411	c	RRF006	Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin	6
412		VSC062	Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen	6
413	c	CTS016	Catsper1-Related Nonsyndromic Male Infertility	6
414	c	MLN082	Male Infertility Due to Sperm Disorder	6
415		FRS005	Fraser Jequier Chen Syndrome	5
416	c	RRF008	Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism	5
417	c	MLN080	Male Infertility Due to Obstructive Azoospermia of Genetic Origin	5
418	c	MLN083	Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder	5
419	c	RRM012	Rare Male Infertility Due to Adrenal Disorder	5
420	c	MLN086	Male Infertility Due to Gonadal Dysgenesis	5
421		GNT073	Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen	5
422	c	RRF003	Rare Female Infertility Due to Gonadal Dysgenesis	5
423	c	RRF010	Rare Female Infertility Due to an Anomaly of Ovarian Function	5
424	c	RRM009	Rare Male Infertility Due to Adrenal Disorder of Genetic Origin	4
425	c	RRM011	Rare Male Infertility Due to Testicular Endocrine Disorder	4
426	c	RRF002	Rare Female Infertility Due to an Implantation Defect	4
427	c	FML357	Female Infertility Due to an Implantation Defect of Genetic Origin	4
428	c	RRF004	Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin	4
429	c	RRF007	Rare Female Infertility Due to Oocyte Maturation Defect	4
430	c	RRF005	Rare Female Infertility Due to Adrenal Disorder of Genetic Origin	3
431	P	OVR042	Ovarian Cancer	88
432		ADR007	Adrenoleukodystrophy	73
433	P	LFR001	Li-Fraumeni Syndrome	73
434	c	BTT014	Beta-Thalassemia	72
435		ACR007	Acromegaly	70
436	c	TYP008	Type 1 Diabetes Mellitus	70
437	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	69
438	P	MYC084	Mycobacterium Tuberculosis 1	68
439	c	CNG411	Congenital Disorder of Glycosylation, Type in	67
440	P	DBT009	Diabetes Mellitus	67
441		IMM106	Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked	66
442	P	BRD002	Bardet-Biedl Syndrome	66
443	P	SHW006	Shwachman-Diamond Syndrome 1	66
444	P	CMP005	Campomelic Dysplasia	65
445		HYP056	Hypoglycemia	65
446	P	THR117	Three M Syndrome 1	65
447	P	ADN016	Adenocarcinoma	63
448	c	MTR018	Maturity-Onset Diabetes of the Young, Type 1	63
449	P	ACT010	Acth-Secreting Pituitary Adenoma	61
450	P	PRD006	Prader-Willi Syndrome	61
451	P	HYP818	Hypobetalipoproteinemia, Familial, 1	60
452		NRN004	Neuroendocrine Tumor	59
453	c	CRP023	Carpenter Syndrome 1	59
454		HYP257	Hypoparathyroidism, Sensorineural Deafness, and Renal Disease	59
455	P	SHR029	Short Syndrome	58
456		CRY035	Cryptorchidism, Unilateral or Bilateral	58
457		LNG073	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	58
458		INT324	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	58
459		PRM013	Premature Menopause	58
460		STF001	Stiff-Person Syndrome	58
461		CHR072	Chordoma	57
462		OVR012	Ovarian Serous Cystadenocarcinoma	55
463	P	HYP024	Hypoparathyroidism	55
464	P	HYP760	Hypothyroidism, Congenital, Nongoitrous, 2	55
465		PNL019	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities	55
466		PTT041	Pituitary Stalk Interruption Syndrome	54
467		SMT008	Smith-Magenis Syndrome	54
468	c	MTR019	Maturity-Onset Diabetes of the Young, Type 2	53
469	c	CNT075	Central Precocious Puberty	53
470		PTT009	Pituitary Gland Disease	53
471	P	STS003	Sitosterolemia	53
472	P	HYP730	Hypogonadotropic Hypogonadism	53
473	P	OVR049	Ovarian Disease	52
474		ACT238	Acth Deficiency, Isolated	52
475		HYP741	Hyperparathyroidism 2 with Jaw Tumors	51
476	P	HMG032	Hemoglobin H Disease	51
477	P	MYT002	Myotonic Dystrophy	51
478		MNN042	Meningioma, Radiation-Induced	51
479		THY029	Thyroid Carcinoma	51
480		THY030	Thyroid Gland Disease	50
481	c	HLP025	Holoprosencephaly 9	50
482	c	ATX040	Ataxia-Telangiectasia-Like Disorder 1	49
483	c	HLP027	Holoprosencephaly 7	49
484	c	46X049	46,xy Sex Reversal 2	49
485		PRS129	Prostatic Hyperplasia, Benign	49
486	P	BRS053	Breast Fibroadenoma	49
487	c	BRD018	Bardet-Biedl Syndrome 6	49
488	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	48
489	P	PRC019	Precocious Puberty	47
490	P	LSS036	Lissencephaly, X-Linked, 1	47
491	P	GND004	Gonadal Dysgenesis	47
492		ANV001	Anovulation	47
493	c	HYP837	Hypercholesterolemia, Familial, 2	46
494		ADR040	Adrenal Gland Pheochromocytoma	46
495	c	VNT010	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	46
496	c	BRD047	Bardet-Biedl Syndrome 16	46
497		MCR209	Microcephaly, Epilepsy, and Diabetes Syndrome	46
498		MLL011	Mullerian Aplasia and Hyperandrogenism	45
499	c	TYP028	Type 1 Diabetes Mellitus 2	45
500	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	45
501		PRT030	Parathyroid Gland Disease	45
502	P	END084	Endocrine System Disease	44
503		ADR012	Adrenal Gland Disease	44
504		MDL020	Midline Interhemispheric Variant of Holoprosencephaly	44
505	P	DSR090	Disorder of Sexual Development	44
506		DYS101	Dysgerminoma	44
507		TBR006	Tuberculoid Leprosy	43
508		HYP791	Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate	43
509	c	BRD033	Bardet-Biedl Syndrome 13	43
510		THY009	Thyroid Lymphoma	43
511	c	ADN012	Adenocarcinoma in Situ	43
512	P	HYP121	Hypoalphalipoproteinemia	43
513		FNC007	Functioning Pituitary Adenoma	42
514	c	ATM002	Autoimmune Polyendocrine Syndrome Type 1	42
515		PRS042	Prostate Disease	42
516		EXC002	Exocrine Pancreatic Insufficiency	42
517	P	PRT026	Parotitis	42
518		46X012	46,xy Partial Gonadal Dysgenesis	41
519		FLL031	Follicular Adenoma	40
520		ENC038	Encephalopathy, Progressive, with or Without Lipodystrophy	40
521		OVR034	Ovarian Clear Cell Adenocarcinoma	39
522		ISL114	Isolated Growth Hormone Deficiency, Type Ii	39
523		HRT040	Hirata Disease	38
524	c	HYP562	Hypothyroidism, Congenital, Nongoitrous, 6	38
525	c	BRD017	Bardet-Biedl Syndrome 5	38
526		HYP835	Hypothalamic Obesity	38
527		ALC005	Alcoholic Pancreatitis	38
528		HYP085	Hypothalamic Disease	38
529		EST004	Estrogen Excess	38
530		DYS017	Dysgerminoma of Ovary	37
531	c	LPD020	Lipodystrophy, Congenital Generalized, Type 3	37
532		ADR009	Adrenal Cortex Disease	36
533		OBS067	Obesity Due to Melanocortin 4 Receptor Deficiency	36
534		OVR051	Ovarian Endodermal Sinus Tumor	36
535		SPT016	Septopreoptic Holoprosencephaly	36
536	c	CNT101	Central Congenital Hypothyroidism	36
537	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	36
538		PTT001	Pituitary Hypoplasia	34
539		ADR048	Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	34
540	c	STS011	Sitosterolemia 2	34
541		ATH010	Athyreosis	34
542	c	VNT029	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	34
543	c	HYP547	Hypogonadotropic Hypogonadism 12 with or Without Anosmia	33
544		TST010	Testicular Spermatocytic Seminoma	33
545	c	BNG029	Benign Struma Ovarii	33
546		MLR009	Miliaria	33
547	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	33
548	c	VNT027	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	33
549	c	MTR074	Maturity-Onset Diabetes of the Young, Type 14	33
550		OPT032	Optic Pathway Glioma	33
551		FML168	Familial Isolated Pituitary Adenoma	32
552	c	PRM316	Primary Congenital Hypothyroidism	32
553		THY108	Thymic Neuroendocrine Tumor	32
554		OVR109	Ovarian Germ Cell Teratoma	32
555	c	THR069	Three M Syndrome 2	32
556		EXT054	Extra-Adrenal Pheochromocytoma	32
557		LYM043	Lymphocytic Hypophysitis	31
558		ADR010	Adrenal Cortical Hypofunction	31
559	P	PLY188	Polyendocrinopathy	31
560		THY098	Thyroid Ectopia	31
561	c	46X071	46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect	30
562		48X003	48,xxyy Syndrome	30
563	c	ATM068	Autoimmune Hypoparathyroidism	30
564		OVR017	Ovarian Cystic Teratoma	29
565	c	DBT107	Diabetes Mellitus, Permanent Neonatal, 4	29
566		SPR068	Sporadic Pheochromocytoma/secreting Paraganglioma	29
567		PTT016	Patterson Pseudoleprechaunism Syndrome	28
568		TST020	Testis Seminoma	28
569		CYS015	Cystadenofibroma	28
570	c	BRD050	Bardet-Biedl Syndrome 21	28
571		DRM005	Dermoid Cyst of Ovary	28
572	c	HYP552	Hypogonadotropic Hypogonadism 6 with or Without Anosmia	28
573		THY039	Thyrotropin-Releasing Hormone Deficiency	28
574	c	HYP518	Hypogonadotropic Hypogonadism 16 with or Without Anosmia	28
575		BSP001	Basophil Adenoma	28
576		OVR009	Ovarian Gonadoblastoma	27
577		THY004	Thyroid Angiosarcoma	27
578		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	27
579		MCR014	Microcystic Adenoma	27
580		SYN116	Syndromic Obesity	27
581		IND004	Indeterminate Leprosy	27
582		SBC005	Subacute Lymphocytic Thyroiditis	27
583		48X001	48, Xxxx	27
584		ECT089	Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia	26
585		FNC050	Functioning Gonadotropic Adenoma	26
586	c	TYP031	Type 1 Diabetes Mellitus 5	26
587	c	46X047	46,xy Sex Reversal 7	26
588		PRM315	Permanent Congenital Hypothyroidism	26
589	c	SHW007	Shwachman-Diamond Syndrome 2	26
590		PNC028	Pancreatic Steatorrhea	26
591		CRT065	Cortisone Reductase Deficiency 1	25
592		MCR279	Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	25
593		NNN001	Nonencapsulated Sclerosing Carcinoma	25
594	c	THY110	Thyroid Dyshormonogenesis 6	25
595		GGN004	Gigantomastia	25
596		MTR011	Mature Teratoma of the Ovary	25
597		HYP344	Hyperthyroidism, Familial Gestational	24
598	c	HYP819	Hyperlipoproteinemia, Type Id	24
599		OVR021	Ovarian Lymphoma	24
600		FTL062	Fetal Iodine Deficiency Disorder	24
601		END038	Endocrine Pancreas Disease	24
602	c	HYP762	Hypothyroidism, Congenital, Nongoitrous, 5	23
603	c	THR096	Three M Syndrome 3	23
604	c	DBT044	Diabetes Mellitus, Transient Neonatal, 3	23
605	P	GNR008	Generalized Resistance to Thyroid Hormone	23
606	c	HYP857	Hypothyroidism, Congenital, Nongoitrous, 8	23
607		HYP524	Hypoinsulinemic Hypoglycemia with Hemihypertrophy	23
608	c	NPH111	Nephrotic Syndrome, Type 21	23
609	c	PRC047	Precocious Puberty, Central, 1	23
610	c	CNG615	Congenital Disorder of Glycosylation, Type Iir	23
611	c	PRR026	Perrault Syndrome 5	22
612	c	THY062	Thyroid Dyshormonogenesis 5	22
613	c	PRC046	Precocious Puberty, Central, 2	22
614		CHF001	Chief Cell Adenoma	22
615	c	TRN047	Transient Congenital Hypothyroidism	22
616		MCN003	Mucinous Ovarian Cystadenoma	21
617	c	NPH093	Nephrotic Syndrome, Type 13	21
618	c	ATM050	Autoimmune Thyroid Disease 3	21
619	c	TYP033	Type 1 Diabetes Mellitus 7	21
620		TST007	Testicular Infarct	21
621	c	TYP032	Type 1 Diabetes Mellitus 6	21
622		CHR620	Chromosome 16p11.2 Deletion Syndrome, 220-Kb	21
623		NNN035	Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	21
624	c	TYP030	Type 1 Diabetes Mellitus 4	21
625	c	HYP858	Hypothyroidism, Congenital, Nongoitrous, 9	20
626		PRM187	Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	20
627	P	SYN140	Syndrome with 46,xy Disorder of Sex Development	20
628	c	TYP037	Type 1 Diabetes Mellitus 13	20
629		HYP645	Hyperthyroxinemia, Dystransthyretinemic	20
630		TST005	Testicular Gonadoblastoma	20
631	c	46X011	46, Xy Disorders of Sexual Development	20
632		ANT065	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis	20
633		FML019	Familiar Ovarian Carcinoma	20
634		PNH004	Panhypophysitis	20
635		BNG086	Bangstad Syndrome	20
636		NNF008	Non-Functioning Paraganglioma	19
637	c	MLT120	Multiple Fibroadenomas of the Breast	19
638		GRN002	Granulomatous Orchitis	19
639	c	PRM292	Premature Ovarian Failure 14	19
640	c	PRM253	Premature Ovarian Failure 13	19
641		MYT025	Myotubular Myopathy with Abnormal Genital Development	19
642	c	THY101	Thyroid Cancer, Nonmedullary, 5	18
643		MYP026	Myopathy - Thyrotoxic	18
644		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
645	c	CRN298	Carney Complex, Type 2	18
646		OVR001	Ovarian Stromal Hyperthecosis	18
647		GRF006	Grfoma	17
648		TST040	Testicular Trophoblastic Tumor	17
649		OBS060	Obesity Due to Sim1 Deficiency	17
650		PRP107	Peripheral Hypothyroidism	17
651		HYP479	Hyperinsulinism Due to Hnf4a Deficiency	17
652		GND012	Gonadal Dysgenesis, Xy Type, with Associated Anomalies	16
653		HYP667	Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	16
654		INT226	Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	16
655	P	RSS029	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha	16
656		6Q1002	6q16 Microdeletion Syndrome	15
657		GLL034	Gallbladder Neuroendocrine Tumor	15
658		MXD024	Mixed Epithelial Tumor of Ovary	15
659	c	NPH114	Nephrotic Syndrome, Type 22	15
660		INH021	Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency	15
661		46X015	46,xy Ovotesticular Disorder of Sex Development	15
662	P	PRM210	Primary Lipodystrophy	15
663		ATS285	Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	15
664		PRT021	Parathyroid Transitional Clear Cell Adenoma	14
665		BSP005	Basophilic Adenocarcinoma	14
666	c	PRD027	Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion	14
667	c	GRV009	Graves Disease 2	14
668		HYP490	Hyperinsulinism Due to Hnf1a Deficiency	14
669		PDT046	Pediatric-Onset Graves Disease	14
670	c	CTC003	Catecholaminergic Polymorphic Ventricular Tachycardia 5	14
671		OVR039	Ovarian Mesodermal Adenosarcoma	14
672		TST041	Testicular Germ Cell Tumor Non-Seminomatous	14
673		PRM146	Primary Unilateral Adrenal Hyperplasia	13
674		INF124	Infundibulo-Neurohypophysitis	13
675	c	CNG543	Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies	12
676		TST019	Testis Sarcoma	12
677	c	KLL006	Kallmann Syndrome 4	12
678		GNT041	Genetic Lipodystrophy	12
679		PTT038	Pituitary Deficiency Due to Empty Sella Turcica Syndrome	11
680	c	ACT031	Acute Salpingo-Oophoritis	11
681	c	DSR027	Disorders of Vitamin D Metabolism	11
682		SVR045	Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency	11
683		PTT069	Pituitary Deficiency Due to Rathke Cleft Cysts	10
684		SXC004	Sex Chromosome Disorder of Sex Development	10
685		PPL010	Papillary Follicular Thyroid Adenocarcinoma	10
686		PRM330	Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly	10
687		OVR031	Ovarian Papillary Cystadenoma	10
688		PNN006	Panniculitis-Induced Localized Lipodystrophy	10
689	c	SCN039	Secondary Central Precocious Puberty	10
690		TRB001	Trabecular Follicular Adenocarcinoma	9
691		OVR008	Ovarian Mucinous Cystadenofibroma	9
692	c	RRH008	Rare Hyperthyroidism	9
693		SHR095	Short Fifth Metacarpals-Insulin Resistance Syndrome	8
694		MLT106	Multiple Paragangliomas Associated with Polycythemia	8
695		TST011	Testis Rhabdomyosarcoma	8
696		XLN248	X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation	8
697		OBS068	Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	8
698		PNC026	Pancreatic Mucinous Ductal Ectasia	7
699	c	RRP025	Rare Precocious Puberty	7
700	c	RRH010	Rare Hypoparathyroidism	7
701		RRP032	Rare Parathyroid Tumor	7
702	c	CNG591	Congenital Hypothyroidism Due to Developmental Anomaly	7
703		OVR032	Ovarian Surface Papilloma	7
704	c	PRT125	Parotitis, Juvenile Recurrent	6
705	P	RRH006	Rare Hyperlipidemia	6
706		CHL063	Childhood Teratoma of the Ovary	6
707	c	OVR025	Ovarian Mucinous Malignant Adenofibroma	6
708		CHL011	Childhood Immature Teratoma of Ovary	6
709		DZX005	Diazoxide-Resistant Hyperinsulinism	6
710		GST003	Gastrin Secretion Abnormality	6
711		PLY009	Polyembryoma of the Ovary	5
712		DZX004	Diazoxide-Sensitive Diffuse Hyperinsulinism	5
713		MKT001	Mikati-Najjar-Sahli Syndrome	5
714		HYP675	Hypothalamic Adipsic Hypernatraemia Syndrome	5
715		OVR014	Ovarian Clear Cell Cystadenofibroma	5
716		ADR006	Adrenal Gland Ganglioneuroblastoma	5
717	c	RRH005	Rare Hypoaldosteronism	5
718		MXD004	Mixed Eosinophil-Basophil Adenoma	5
719	c	PRM366	Primary Ovarian Insufficiency 17	5
720	c	46X072	46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect	5
721		TST042	Testicular Pure Germ Cell Tumor	5
722		TBL005	Tubular Variant Testicular Seminoma	5
723		MCR003	Macrocystic Pattern Testicular Yolk Sac Tumor	5
724		CRB003	Cribriform Variant Testicular Seminoma	5
725		SLD001	Solid Pattern Testicular Yolk Sac Tumor	5
726		MYX003	Myxomatous Pattern Testicular Yolk Sac Tumor	5
727		PPL012	Papillary Pattern Testicular Yolk Sac Tumor	5
728		PSD013	Pseudoglandular Variant Testicular Seminoma	5
729		RTC004	Reticular Pattern Testicular Yolk Sac Tumor	5
730		NNC016	Non-Acquired Premature Ovarian Failure	5
731		ACQ065	Acquired Pituitary Hormone Deficiency	5
732	P	RRN005	Rare Insulin-Resistance Syndrome	5
733		PHP002	Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	5
734		PLY007	Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor	4
735		PRT020	Parathyroid Oncocytic Adenoma	4
736		46X068	46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen	4
737		46X069	46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen	4
738		MXD048	Mixed Functioning Pituitary Adenoma	4
739	c	PRM352	Primary Ovarian Insufficiency 3	4
740	c	PRM353	Primary Ovarian Insufficiency 4	4
741	c	PRM354	Primary Ovarian Insufficiency 5	4
742	c	PRM357	Primary Ovarian Insufficiency 8	4
743	c	PRM364	Primary Ovarian Insufficiency 15	4
744	c	46X062	46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect	4
745		NNR001	Non-Renal Secondary Hyperparathyroidism	4
746	c	OVR030	Ovarian Endometrioid Malignant Adenofibroma	4
747		END005	Endodermal Sinus Pattern Testicular Yolk Sac Tumor	4
748		PLY015	Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor	4
749		46X066	46,xy Disorder of Sex Development of Endocrine Origin	4
750		NNC017	Non-Acquired Pituitary Hormone Deficiency	4
751	c	HYP232	Hypothyroidism Due to Iodide Transport Defect	4
752	c	RRD014	Rare Adult Hypothyroidism	4
753		PNC023	Pancreatic Non-Functioning Delta Cell Tumor	4
754		RRH003	Rare Hypothalamic or Pituitary Disease	3
755		OBS083	Obesity Due to Congenital Leptin Resistance	3
756		RRS009	Rare Surgically Correctable Form of Primary Aldosteronism	3
757		RRN011	Rare Non Surgically Correctable Form of Primary Aldosteronism	3
758		46X064	46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors	3
759		GNT051	Genetic Non-Syndromic Obesity	3
760		PTT066	Pituitary Hormone Deficiency of Meningeal Origin	3
761		PTT067	Pituitary Hormone Deficiency of Tumoral Origin	3
762	c	ACQ068	Acquired Chronic Primary Adrenal Insufficiency	3
763	c	FRG005	Fragile X Syndrome Type 2	3
764		RRS005	Rare Syndromic Dyslipidemia	3
765		OTH013	Other Rare Diabetes Mellitus	3
766		RRD020	Rare Disease with Cushing Syndrome As a Major Feature	3
767		RRN018	Rare Endocrine Growth Disease	3
768		ADR058	Adrenal/paraganglial Tumor	3
769		MLN047	Melanoma-Pancreatic Cancer Syndrome	28
770		GST086	Gastric Adenocarcinoma and Proximal Polyposis of the Stomach	29
771		IMM177	Immunodeficiency 54	44
772	c	PRG018	Paragangliomas 1	59
773	c	PRG020	Paragangliomas 3	39
774	c	PRG021	Paragangliomas 4	37
775	c	PRG019	Paragangliomas 2	30
776	c	PRG094	Paragangliomas 5	28
777	c	PRG137	Paragangliomas 6	20
778	c	PRG138	Paragangliomas 7	18
779		IGG007	Igg4-Related Disease	48
780		WTK002	Witkop Syndrome	43
781		ECC001	Eccrine Papillary Adenocarcinoma	30
782		WBB001	Webb-Dattani Syndrome	23
783		NRN039	Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia	13
784	c	TYP009	Type 2 Diabetes Mellitus	92
785	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	80
786		CNN003	Conn's Syndrome	79
787		INS024	Insulin-Like Growth Factor I	78
788		VNH007	Von Hippel-Lindau Syndrome	73
789	c	FML021	Familial Hypercholesterolemia	72
790		LPD012	Lipoid Congenital Adrenal Hyperplasia	70
791	P	HYP086	Hypothyroidism	69
792		ATM096	Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia	65
793	P	KLL001	Kallmann Syndrome	65
794		CHY002	Chylomicron Retention Disease	64
795		OVR029	Ovarian Hyperstimulation Syndrome	63
796		HYP020	Hyperprolactinemia	63
797	c	CNG006	Congenital Hypothyroidism	63
798		LRN002	Laron Syndrome	63
799		DGR001	Digeorge Syndrome	62
800		SPT006	Septooptic Dysplasia	62
801	P	WLF004	Wolfram Syndrome	61
802		PRC038	Precocious Puberty, Male-Limited	61
803		ECT070	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	60
804		HSH003	Hashimoto Thyroiditis	60
805	c	ACT027	Acute Pancreatitis	60
806		HMZ003	Homozygous Familial Hypercholesterolemia	60
807		CFF002	Coffin-Lowry Syndrome	60
808		THY122	Thyroid Gland Cancer	59
809	c	PRM196	Premature Ovarian Failure 1	59
810	c	OVR114	Ovarian Cancer 1	59
811	P	CLS054	Classic Ehlers-Danlos Syndrome	57
812	c	HLP023	Holoprosencephaly 1	56
813	P	GRV001	Graves' Disease	55
814		ADR056	Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete	55
815	c	FML035	Familial Hyperlipidemia	55
816		CMP034	Complete Androgen Insensitivity Syndrome	55
817		THY123	Thyroid Gland Follicular Carcinoma	55
818		ALL001	Allan-Herndon-Dudley Syndrome	54
819	P	FML012	Familial Partial Lipodystrophy	54
820	P	DBT005	Diabetes Insipidus	54
821	c	GRV008	Graves Disease 1	54
822	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	54
823	c	HYP739	Hyperlipoproteinemia, Type Iv	53
824	c	HYP740	Hyperlipoproteinemia, Type V	53
825	P	VTM027	Vitamin D-Dependent Rickets, Type 2a	53
826	c	BRD014	Bardet-Biedl Syndrome 2	53
827	P	HYP083	Hypopituitarism	52
828		ACD008	Acid-Labile Subunit Deficiency	52
829	P	PRS049	Persistent Mullerian Duct Syndrome	52
830		TST014	Testicular Cancer	52
831		DFF036	Differentiated Thyroid Carcinoma	51
832		PNC041	Pancreatic Ductal Adenocarcinoma	51
833	c	LPD032	Lipodystrophy, Congenital Generalized, Type 1	51
834	c	HYP374	Hypothyroidism, Congenital, Nongoitrous, 1	51
835		PRT029	Parathyroid Adenoma	51
836	c	BRD012	Bardet-Biedl Syndrome 11	51
837	c	SCN007	Secondary Hyperparathyroidism	51
838	c	GLC111	Galactosemia Ii	50
839		LPT006	Leptin Receptor Deficiency	50
840	c	HYP843	Hypoalphalipoproteinemia, Primary, 2	50
841		GLC042	Glucocorticoid Deficiency 1	50
842		CRD229	Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism	49
843		ADR041	Adrenal Cortical Adenoma	49
844	c	HLP024	Holoprosencephaly 2	49
845	P	FML362	Familial Isolated Hypoparathyroidism	48
846		PNC013	Pancreatic Ductal Carcinoma	48
847		HRT039	Heart Defects, Congenital, and Other Congenital Anomalies	48
848		ECT061	Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant	48
849	c	ACT150	Acute Adrenal Insufficiency	48
850		SML028	Semilobar Holoprosencephaly	48
851	c	PRM093	Premature Ovarian Failure 7	48
852		LBR025	Lobar Holoprosencephaly	47
853		NRN001	Neuroendocrine Carcinoma	47
854	P	OVR046	Ovarian Cyst	46
855	c	HYP840	Hypercholesterolemia, Familial, 4	46
856		PTT008	Pituitary Carcinoma	46
857	c	STS010	Sitosterolemia 1	46
858		GLC036	Glucagonoma	46
859		ALB014	Alobar Holoprosencephaly	46
860		TST044	Testicular Torsion	45
861	c	NNN011	Noonan Syndrome 4	45
862		ECT093	Ectopic Cushing Syndrome	45
863		SHH001	Sheehan Syndrome	45
864		STT007	Steatocystoma Multiplex	44
865		CRN055	Carney Triad	44
866		BSM002	Bosma Arhinia Microphthalmia Syndrome	44
867		NLS001	Nelson Syndrome	44
868	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	43
869	c	SBC007	Subacute Thyroiditis	43
870	c	FML294	Familial Short Qt Syndrome	43
871	c	BRD019	Bardet-Biedl Syndrome 7	43
872	P	PNC045	Pancreatic Agenesis	43
873	c	46X030	46,xy Sex Reversal 9	43
874	c	NNN013	Noonan Syndrome 6	42
875		ECC004	Eccrine Porocarcinoma	42
876		EMP001	Empty Sella Syndrome	42
877	c	HMG003	Hemoglobin E Disease	42
878		TRP009	Triple X Syndrome	41
879	c	HMG001	Hemoglobin C Disease	41
880	c	MTR044	Maturity-Onset Diabetes of the Young, Type 10	41
881	P	HYP347	Hypotonia-Cystinuria Syndrome	41
882	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	40
883		DBT020	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans	40
884	c	CNG379	Congenital Disorder of Glycosylation, Type It	39
885		APL017	Apolipoprotein C-Ii Deficiency	39
886	c	PLY105	Polycystic Ovary Syndrome 1	39
887		NNF007	Non-Functioning Pituitary Adenoma	39
888	c	OVR058	Ovarian Small Cell Carcinoma	39
889		TST018	Testicular Yolk Sac Tumor	39
890	c	TYP053	Type 1 Diabetes Mellitus 20	39
891		END011	Endometriosis of Ovary	39
892		CRT046	Corticosteroid-Binding Globulin Deficiency	38
893		PNC019	Pancreatoblastoma	38
894	c	PRM340	Primary Adrenal Insufficiency	38
895		DBT092	Diabetes Insipidus, Nephrogenic, X-Linked	38
896	c	MTR039	Maturity-Onset Diabetes of the Young, Type 11	38
897		HYP856	Hypothyroidism, Central, with Testicular Enlargement	37
898	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	37
899	c	BRD045	Bardet-Biedl Syndrome 19	37
900	c	NNN012	Noonan Syndrome 5	37
901		CHR525	Chromosome Xq26.3 Duplication Syndrome	37
902	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	37
903		ISL125	Isolated Growth Hormone Deficiency Type Iii	37
904	c	LYD012	Leydig Cell Hypoplasia, Type I	37
905		LPS020	Lipase Deficiency, Combined	36
906	c	LSS037	Lissencephaly, X-Linked, 2	36
907		17B003	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	36
908		THY069	Thyroid Hormone Resistance, Selective Pituitary	36
909		DNC004	Diencephalic Syndrome	36
910		ANR018	Anorchia	36
911		OVR015	Ovarian Mixed Germ Cell Neoplasm	36
912	c	SCN052	Secondary Adrenal Insufficiency	36
913	P	HYP120	Hypoaldosteronism	35
914		WTR001	Waterhouse-Friderichsen Syndrome	35
915		SML041	Small-Cell Carcinoma of the Ovary of Hypercalcemic Type	35
916		CHR034	Chromophobe Adenoma	35
917	P	MXD016	Mixed Gonadal Dysgenesis	35
918		IMM005	Immature Teratoma of Ovary	35
919		RCT005	Rectum Neuroendocrine Neoplasm	35
920		UVP001	Uveoparotid Fever	34
921	P	SYN165	Syndromic Microphthalmia	34
922		CRT020	Cortisone Reductase Deficiency	34
923		MCH011	Meacham Syndrome	34
924		MLG048	Malignant Acrospiroma	33
925	c	HMG004	Hemoglobin D Disease	33
926		SPR018	Spermatocytoma	33
927	c	LPD036	Lipodystrophy, Familial Partial, Type 6	33
928		OVR026	Ovary Transitional Cell Carcinoma	32
929		PRL010	Prolactin Producing Pituitary Tumor	32
930	c	LPD040	Lipodystrophy, Familial Partial, Type 1	32
931		ADR023	Adrenomyodystrophy	32
932		OVR013	Ovarian Mucinous Cystadenocarcinoma	32
933		ADR057	Adrenogenital Syndrome	32
934		GBL002	Goblet Cell Carcinoid	32
935	P	CNT037	Central Nervous System Germinoma	32
936	c	TYP054	Type 1 Diabetes Mellitus 21	32
937	c	PTT061	Pituitary Adenoma 3, Multiple Types	31
938	c	PTT058	Pituitary Adenoma 2, Growth Hormone-Secreting	31
939	c	NPH047	Nephrotic Syndrome, Type 4	31
940	c	THY071	Thyroid Dyshormonogenesis 1	31
941	P	KNN002	Kenny-Caffey Syndrome	31
942		PNC002	Pancreatic Mucinous Cystadenoma	31
943		CHR075	Choriocarcinoma of Ovary	31
944		OVR123	Ovarian Seromucinous Carcinoma	30
945		DCR010	Dicer1 Tumor Predisposition	30
946	c	BRD051	Bardet-Biedl Syndrome 20	30
947		HYP611	Hypoparathyroidism, X-Linked	30
948		OVR041	Ovarian Benign Neoplasm	30
949		GNT167	Genetic Obesity	30
950	c	HYP523	Hypogonadotropic Hypogonadism 14 with or Without Anosmia	30
951		PNC027	Pancreatic Gastrinoma	30
952	P	THY061	Thyroid Dyshormonogenesis 2a	30
953		BRN137	Bronchial Neuroendocrine Tumor	29
954		HMT001	Hematocele of Tunica Vaginalis Testis	29
955	c	PRR021	Perrault Syndrome 4	29
956	c	MLG053	Malignant Ovarian Brenner Tumor	29
957	c	HYP511	Hypogonadotropic Hypogonadism 15 with or Without Anosmia	29
958	c	CNG608	Congenital Hypopituitarism	29
959		PNC009	Pancreas Sarcoma	29
960		PTT044	Pituitary Hormone Deficiency, Combined, 4	29
961		BRD005	Borderline Leprosy	28
962		RPD006	Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	28
963	c	46X017	46,xy Sex Reversal 6	27
964	c	HYP532	Hypogonadotropic Hypogonadism 18 with or Without Anosmia	27
965		IDP034	Idiopathic Central Precocious Puberty	27
966	c	THY114	Thyroid Hormone Resistance, Generalized, Autosomal Recessive	27
967		GLC043	Glucocorticoid Deficiency 2	27
968		PRM183	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	27
969		TLL001	Tall Cell Variant Papillary Carcinoma	27
970	c	FML275	Familial Hypoaldosteronism	26
971		GRW026	Growth Hormone Insensitivity, Partial	26
972		PNC038	Pancreatic Cystadenocarcinoma	26
973	c	THY063	Thyroid Dyshormonogenesis 4	26
974	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	26
975		LCT003	Lactocele	26
976		MLG076	Malignant Ovarian Surface Epithelial-Stromal Neoplasm	26
977		SLN005	Silent Pituitary Adenoma	25
978	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	25
979	c	ACQ043	Acquired Lipodystrophy	25
980	c	HYP720	Hyperparathyroidism 4	25
981	c	HYP817	Hypogonadotropic Hypogonadism 21 with or Without Anosmia	25
982		OVR061	Ovary Sarcoma	25
983		KWR001	Kowarski Syndrome	25
984		GNT043	Genitopalatocardiac Syndrome	25
985	c	PRM090	Premature Ovarian Failure 6	25
986		HYP693	Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia	24
987	P	OVR045	Ovarian Clear Cell Adenofibroma	24
988	c	TYP058	Type 2 Diabetes 5	24
989		NNG002	Non-Gestational Ovarian Choriocarcinoma	24
990	c	PRM207	Premature Ovarian Failure 10	24
991		MTC025	Mitochondrial Myopathy with Diabetes	24
992		END036	Endocrine Organ Benign Neoplasm	24
993		ANS010	Anus Adenocarcinoma	24
994	c	HRD156	Hereditary Central Diabetes Insipidus	24
995		SCN001	Secondary Hyperparathyroidism of Renal Origin	24
996	c	PRM089	Premature Ovarian Failure 3	24
997	c	TYP039	Type 1 Diabetes Mellitus 17	24
998	c	PRM094	Premature Ovarian Failure 5	24
999	c	NPH105	Nephrotic Syndrome, Type 17	24
1000	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	24
1001		MCN022	Mucinous Cystadenocarcinoma of the Pancreas	23
1002		PNC031	Pancreatic Foamy Gland Adenocarcinoma	23
1003	c	PRM254	Premature Ovarian Failure 11	23
1004		ARD001	Aredyld	23
1005	c	NPH108	Nephrotic Syndrome, Type 20	22
1006	c	PNC132	Pancreatic Cancer 5	22
1007	c	NPH106	Nephrotic Syndrome, Type 18	22
1008		THY016	Thyroid Hurthle Cell Adenoma	22
1009		MXD014	Mixed Ductal-Endocrine Carcinoma	22
1010	c	PRM192	Premature Ovarian Failure 8	22
1011		MSC089	Mosaic Monosomy X	21
1012		DDN028	Duodenal Neuroendocrine Tumor	21
1013		MNT259	Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies	21
1014		CLL009	Colloid Carcinoma of the Pancreas	21
1015		FTL005	Fetal Adenoma	21
1016		TTR018	Tetragametic Chimerism	20
1017	c	DBT098	Diabetes Mellitus, Transient Neonatal, 2	20
1018	c	46X046	46,xy Sex Reversal 4	20
1019	c	PRD023	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2	20
1020	c	MLG033	Malignant Ovarian Cyst	20
1021		PNC024	Pancreatic Colloid Cystadenoma	20
1022		HYP685	Hypergonadotropic Hypogonadism and Partial Alopecia	20
1023	c	PRM295	Premature Ovarian Failure 15	20
1024	c	INS009	Insulin-Resistance Type B	20
1025		ECT094	Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type	19
1026		SPN279	Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor	19
1027		OVR027	Ovarian Squamous Cell Carcinoma	19
1028		NRN006	Neuroendocrine Carcinoma of the Cervix	19
1029		IGG015	Igg4-Related Thyroid Disease	19
1030		HYD021	Hydrocephalus Obesity Hypogonadism	19
1031		PST034	Posterior Pituitary Gland Neoplasm	19
1032		GRW032	Growth Factors, Combined Defect of	18
1033	c	HYP311	Hyperparathyroidism 3	18
1034		ADR035	Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion	18
1035	c	THY100	Thyroid Cancer, Nonmedullary, 4	18
1036	c	ACQ034	Acquired Central Diabetes Insipidus	18
1037	c	SM1001	Sim1-Related Prader-Willi-Like Syndrome	17
1038	c	PRM255	Premature Ovarian Failure 12	17
1039	c	46X060	46,xx Disorder of Sex Development	17
1040		SMT017	Somatomammotropinoma	17
1041		MLT005	Multicentric Papillary Thyroid Carcinoma	17
1042		INT298	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	17
1043		OVR033	Ovary Papillary Carcinoma	16
1044	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	16
1045		HGH030	High-Grade Neuroendocrine Carcinoma of the Cervix Uteri	16
1046	c	VTM035	Vitamin D-Dependent Rickets, Type 3	16
1047		BLT017	Bilateral Massive Adrenal Hemorrhage	16
1048		PNC011	Pancreatic Vasoactive Intestinal Peptide Producing Tumor	16
1049		ISL139	Isolated Congenital Hypogonadotropic Hypogonadism	16
1050	c	PRM348	Premature Ovarian Failure 17	15
1051	c	CHR695	Chronic Primary Adrenal Insufficiency	15
1052		IMM129	Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis	15
1053	c	THY117	Thyroid Cancer, Nonmedullary, 3	15
1054	c	FML227	Familial Partial Lipodystrophy Due to Akt2 Mutations	15
1055	c	KLL007	Kallmann Syndrome 5	15
1056	P	FML354	Familial Nonmedullary Thyroid Carcinoma	15
1057		HYP494	Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	15
1058		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	15
1059		NRH002	Neurohypophysis Granular Cell Tumor	14
1060		ECT055	Ectopic Aldosterone-Producing Tumor	14
1061	c	ATM056	Autoimmune Thyroid Disease 1	13
1062		XLN112	X-Linked Intellectual Disability, Cilliers Type	13
1063		OVR040	Ovarian Clear Cell Cystadenocarcinoma	13
1064		PNC010	Pancreatic Signet Ring Cell Adenocarcinoma	13
1065		XSM001	X Small Rings	12
1066		MYX002	Myxoid Liposarcoma of the Ovary	12
1067	c	RSS030	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta	12
1068		NRN032	Neuroendocrine Tumor of Anal Canal	12
1069	c	ERL059	Early-Onset Familial Hypoaldosteronism	12
1070		LPS003	Liposarcoma of the Ovary	12
1071	c	LTN026	Late-Onset Familial Hypoaldosteronism	12
1072		MBS006	Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	12
1073	c	PRT254	Proteasome-Associated Autoinflammatory Syndrome 5	11
1074	P	OVR052	Ovarian Endometrioid Adenofibroma	11
1075		HYP485	Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency	11
1076		PTT039	Pituitary Dermoid and Epidermoid Cysts	11
1077		46X040	46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome	11
1078	c	ATM058	Autoimmune Thyroid Disease 4	10
1079		OVR020	Ovarian Wilms' Cancer	10
1080		HYP852	Hypocalcemic Rickets	10
1081		TBR005	Tuberculous Oophoritis	9
1082		HRD017	Hordeolum Externum	9
1083		MDD017	Middle Ear Neuroendocrine Tumor	9
1084		INT222	Intermediate Dend Syndrome	9
1085		PLM024	Pulmonary Type Ovarian Small Cell Carcinoma	9
1086	c	RRH009	Rare Hypothyroidism	8
1087		CHL008	Childhood Ovarian Endodermal Sinus Tumor	8
1088		PRL043	Poorly Differentiated Thymic Neuroendocrine Carcinoma	8
1089		MLG017	Malignant Tumor of Undescended Testis	8
1090		CLM001	Columnar Cell Variant Papillary Carcinoma	8
1091	c	RRP004	Rare Primary Hyperaldosteronism	7
1092		CLS028	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form	7
1093	c	ACQ064	Acquired Premature Ovarian Failure	7
1094	c	DBT096	Diabetes Mellitus, Congenital Autoimmune	7
1095		HGH029	High-Grade Neuroendocrine Carcinoma of the Corpus Uteri	7
1096		RRD066	Rare Dyslipidemia	7
1097		NRN043	Neuroendocrine Neoplasm of Esophagus	7
1098		TST008	Testis Polyembryoma	7
1099	c	RRH011	Rare Hyperparathyroidism	7
1100		CLS051	Classic Neuroendocrine Tumor of Appendix	6
1101		TST009	Testis Refractory Cancer	6
1102		CHL036	Childhood Mature Teratoma of the Ovary	6
1103		PNC029	Pancreatic Acth Hormone Producing Tumor	6
1104		DZX006	Diazoxide-Resistant Focal Hyperinsulinism	6
1105		OVR036	Ovarian Endometrioid Cystadenofibroma	6
1106	c	46X063	46,xy Disorder of Sex Development Due to Impaired Androgen Production	6
1107		PNC040	Pancreatic Delta Cell Neoplasm	5
1108		MLG045	Malignant Growth Hormone Secreting Neoplasm of Pituitary	5
1109		MLG046	Malignant Acth Producing Neoplasm of Pituitary Gland	5
1110		HYP665	Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome	5
1111	P	BNG096	Benign Exocrine Pancreas Neoplasm	5
1112		GLN005	Glandular-Alveolar Pattern Testicular Yolk Sac Tumor	5
1113		ENT002	Enteric Pattern Testicular Yolk Sac Tumor	5
1114	c	PRM358	Primary Ovarian Insufficiency 9	5
1115	c	HYP851	Hypotonia-Cystinuria Type 1 Syndrome	5
1116		PNC004	Pancreatic Non-Invasive Mucinous Cystadenocarcinoma	5
1117	P	RRH027	Rare Hypercholesterolemia	5
1118	P	RRD068	Rare Adrenal Disease	5
1119		NNC007	Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	5
1120		46X075	46,xx Disorder of Sex Development Induced by Fetal Androgens Excess	5
1121		MXD018	Mixed Cell Type Adenoma of Parathyroid	4
1122		MCN026	Mucinous Pancreas Adenocarcinoma	4
1123		PNC021	Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma	4
1124		46X076	46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen	4
1125		PTT068	Pituitary Hormone Deficiency of Vascular Origin	4
1126		HPT013	Hepatoid Pattern Testicular Yolk Sac Tumor	4
1127	c	PRM365	Primary Ovarian Insufficiency 16	4
1128	c	OVR071	Ovarian Insufficiency, Familial	4
1129		PNC030	Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma	4
1130		NNC018	Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations	4
1131		RRD070	Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism	4
1132		RRD015	Rare Disorder with Hypergonadotropic Hypogonadism	4
1133	c	46X077	46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue	3
1134		RRP003	Rare Peripheral Precocious Puberty	3
1135		PTT064	Pituitary Hormone Deficiency Secondary to Storage Disease	3
1136		PTT065	Pituitary Hormone Deficiency Secondary to a Granulomatous Disease	3
1137		DSS031	Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency	3
1138	c	FRG004	Fragile X Syndrome Type 1	3
1139	c	ACT243	Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor	3
1140		RRP020	Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly	3
1141	c	GNT178	Genetic Chronic Primary Adrenal Insufficiency	3
1142		END089	Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature	3
1143		ATY046	Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome	3
1144		NRN048	Neuroendocrine Tumor with Other Location	3
1145		DYS002	Dysplastic Nevus Syndrome	54
1146	P	PNC035	Pancreatic Cancer	86
1147		LPT014	Leptin Deficiency or Dysfunction	78
1148	P	PHC003	Pheochromocytoma	69
1149	P	HLP001	Holoprosencephaly	69
1150	c	MYT021	Myotonic Dystrophy 1	68
1151		ABT001	Abetalipoproteinemia	68
1152		PRT010	Parathyroid Carcinoma	68
1153	P	MTR004	Maturity-Onset Diabetes of the Young	68
1154	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	67
1155		THY111	Thyroid Carcinoma, Familial Medullary	67
1156	P	NRB001	Neuroblastoma	66
1157		MND021	Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome	66
1158	P	GLC113	Galactosemia I	66
1159		PRT036	Peritonitis	65
1160		PNC129	Pancreatic Adenocarcinoma	65
1161		TNG002	Tangier Disease	64
1162		CLR108	Colorectal Adenoma	64
1163		CRN036	Craniopharyngioma	64
1164	P	CTC001	Catecholaminergic Polymorphic Ventricular Tachycardia	63
1165		KRN002	Kearns-Sayre Syndrome	63
1166		ADR016	Adrenal Cortical Carcinoma	62
1167	c	MLT159	Multiple Endocrine Neoplasia, Type Iib	61
1168	c	WLF013	Wolfram Syndrome 1	60
1169	P	NPH012	Nephrotic Syndrome	60
1170		CHN016	Cohen Syndrome	60
1171		INS001	Insulinoma	59
1172	c	PRM005	Primary Hyperparathyroidism	59
1173	c	NRB010	Neuroblastoma 1	59
1174		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	58
1175		PND002	Pendred Syndrome	57
1176	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	56
1177		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	56
1178		CRC006	Carcinoid Syndrome	55
1179	P	PTT006	Pituitary Adenoma	55
1180	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	55
1181		ZLL002	Zollinger-Ellison Syndrome	55
1182	c	MTR020	Maturity-Onset Diabetes of the Young, Type 3	54
1183		ISL014	Isolated Growth Hormone Deficiency, Type Ia	54
1184	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	54
1185	c	PTT056	Pituitary Adenoma 1, Multiple Types	53
1186		ADR049	Adrenal Hypoplasia, Congenital	53
1187		JHN001	Johanson-Blizzard Syndrome	52
1188		CHN054	Chondrodysplasia, Blomstrand Type	52
1189		FML026	Familial Lipoprotein Lipase Deficiency	52
1190		PRS127	Pearson Marrow-Pancreas Syndrome	52
1191	c	PNC106	Pancreatic Agenesis 1	51
1192	P	DFF019	Diffuse Gastric Cancer	50
1193	c	MCR261	Microphthalmia, Syndromic 2	50
1194		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	50
1195		PNC034	Pancreas Disease	50
1196	c	MLT086	Multiple Endocrine Neoplasia, Type Iv	50
1197	c	HYP841	Hypoalphalipoproteinemia, Primary, 1	49
1198		LPR001	Lepromatous Leprosy	49
1199	c	AXN009	Axenfeld-Rieger Syndrome, Type 1	49
1200		VPM001	Vipoma	49
1201	c	BRD011	Bardet-Biedl Syndrome 10	49
1202		GLY014	Glycerol Kinase Deficiency	48
1203		THY125	Thyroid Gland Medullary Carcinoma	48
1204	c	HYP601	Hyperinsulinemic Hypoglycemia, Familial, 3	48
1205		MRT007	Martsolf Syndrome	48
1206		INP001	Inappropriate Adh Syndrome	48
1207	c	HLP026	Holoprosencephaly 3	48
1208	c	TRN032	Transient Neonatal Diabetes Mellitus	47
1209		ADR054	Adrenocortical Carcinoma, Hereditary	47
1210	c	THY112	Thyroid Hormone Resistance, Generalized, Autosomal Dominant	47
1211	c	AXN010	Axenfeld-Rieger Syndrome, Type 3	47
1212		PTT004	Pituitary Apoplexy	47
1213		OVR044	Ovarian Carcinosarcoma	47
1214	P	GRW001	Growth Hormone Secreting Pituitary Adenoma	47
1215	c	HYP513	Hypogonadotropic Hypogonadism 1 with or Without Anosmia	46
1216	P	ATM019	Autoimmune Polyendocrine Syndrome	46
1217	c	HLP016	Holoprosencephaly 11	46
1218	c	HYP272	Hypercholesterolemia, Familial, 3	45
1219		END031	Endometrial Stromal Sarcoma	45
1220		CRT039	Corticosterone Methyloxidase Type I Deficiency	45
1221	c	LPD035	Lipodystrophy, Congenital Generalized, Type 4	45
1222		APP009	Appendix Adenocarcinoma	45
1223		SPS204	Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity	44
1224	c	MTR021	Maturity-Onset Diabetes of the Young, Type 4	44
1225		DWR001	Dwarfism	44
1226		IMM055	Immunodeficiency, Common Variable, 8, with Autoimmunity	44
1227	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	44
1228	c	BRD013	Bardet-Biedl Syndrome 12	44
1229	P	OVR106	Ovarian Clear Cell Carcinoma	44
1230	P	HRD018	Hair Disease	44
1231	c	HYP349	Hyperinsulinemic Hypoglycemia, Familial, 7	43
1232	c	WLF009	Wolfram Syndrome 2	43
1233		FML091	Familial Tumoral Calcinosis	43
1234		TST015	Testicular Disease	42
1235		TSH001	Tsh Producing Pituitary Tumor	42
1236		EST007	Estrogen Resistance	41
1237	c	NPH072	Nephrotic Syndrome, Type 7	40
1238	c	BRD021	Bardet-Biedl Syndrome 9	40
1239		PNC008	Pancreatic Endocrine Carcinoma	39
1240		PNC015	Pancreatic Acinar Cell Adenocarcinoma	39
1241		THY124	Thyroid Gland Papillary Carcinoma	39
1242		ADR004	Adrenal Cortical Adenocarcinoma	38
1243	P	ACT244	Acth-Independent Cushing Syndrome	38
1244		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	38
1245		TMP012	Temple Syndrome	38
1246	c	RBN008	Rubinstein-Taybi Syndrome 2	38
1247		OST004	Osteitis Fibrosa	38
1248	c	46X051	46,xy Sex Reversal 1	38
1249	c	PLL017	Pallister-Hall-Like Syndrome	37
1250		OVR105	Ovarian Serous Carcinoma	37
1251		NPH013	Nephrogenic Syndrome of Inappropriate Antidiuresis	37
1252		OBS081	Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair	37
1253		HYP249	Hyperthyroidism, Nonautoimmune	36
1254	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	36
1255		NST002	Nestor-Guillermo Progeria Syndrome	35
1256	P	TTR031	Tetraamelia Syndrome	35
1257		ECC003	Eccrine Papillary Adenoma	35
1258		CYL004	Cylindromatosis, Familial	35
1259		OVR054	Ovarian Mucinous Neoplasm	34
1260		OVR011	Ovarian Mucinous Adenocarcinoma	34
1261		CMB062	Combined Pituitary Hormone Deficiencies, Genetic Forms	34
1262		GRW023	Growth Hormone Deficiency, Isolated Partial	34
1263	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	34
1264		MMM007	Mammary Analogue Secretory Carcinoma	34
1265		PNC039	Pancreatic Cystadenoma	34
1266		46X083	46,xy Gonadal Dysgenesis with Minifascicular Neuropathy	33
1267		SDD002	Sudden Infant Death with Dysgenesis of the Testes Syndrome	33
1268		HRM003	Hormone Producing Pituitary Cancer	33
1269	c	TBL032	Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	33
1270		PNC127	Pancreatic Adenosquamous Carcinoma	33
1271	c	HYP564	Hypocalcemia, Autosomal Dominant 2	32
1272		PNC016	Pancreatic Cholera	32
1273	c	FML353	Familial Ovarian Cancer	32
1274	P	GRW041	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive	31
1275		EMB006	Embryonal Testis Carcinoma	31
1276	c	DBT064	Diabetes Mellitus, Transient Neonatal, 1	31
1277	c	MLG059	Malignant Struma Ovarii	31
1278		OVR050	Ovarian Embryonal Carcinoma	31
1279		PRM205	Primary Hepatic Neuroendocrine Carcinoma	30
1280	c	MLG168	Malignant Exocrine Pancreas Neoplasm	30
1281	c	MCR228	Microphthalmia, Syndromic 13	30
1282	c	LFR009	Li-Fraumeni Syndrome 1	29
1283	c	NRB015	Neuroblastoma 2	29
1284		OVR048	Ovarian Cystadenoma	29
1285		OVR103	Ovarian Endometrial Cancer	29
1286	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	29
1287		MNT318	Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome	29
1288		PPM002	Ppoma	28
1289	c	NRB014	Neuroblastoma 3	28
1290	c	SHR033	Short Qt Syndrome 3	28
1291		OVR005	Ovarian Large-Cell Neuroendocrine Carcinoma	28
1292	c	HYP522	Hypogonadotropic Hypogonadism 11 with or Without Anosmia	28
1293		MMS001	Momo Syndrome	28
1294	c	PRS050	Prss1-Related Hereditary Pancreatitis	28
1295	P	HRD022	Hordeolum	28
1296		PTT047	Pituitary Hormone Deficiency, Combined, 3	28
1297	c	HYP860	Hypothyroidism, Congenital, Nongoitrous, 7	27
1298		OVR060	Ovary Epithelial Cancer	27
1299	c	NNN034	Noonan Syndrome 12	27
1300		LRY013	Laryngeal Neuroendocrine Tumor	27
1301		ADR003	Adrenal Neuroblastoma	27
1302		PNC006	Pancreatic Somatostatinoma	27
1303		46X054	46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs	26
1304		INT041	Intratubular Embryonal Carcinoma	26
1305	c	HYP557	Hypogonadotropic Hypogonadism 19 with or Without Anosmia	26
1306		PNL023	Penile Agenesis	26
1307		THY031	Thyroid Sarcoma	25
1308		FML211	Familial Papillary or Follicular Thyroid Carcinoma	25
1309	c	NPH073	Nephrotic Syndrome, Type 8	25
1310	c	NPH095	Nephrotic Syndrome, Type 11	25
1311		HYP683	Hypogonadism-Cataract Syndrome	25
1312	c	HYP820	Hypogonadotropic Hypogonadism 22 with or Without Anosmia	24
1313		URC004	Urachal Cancer	24
1314	P	VTM003	Vitamin Metabolic Disorder	24
1315		DPL009	Duplication of the Pituitary Gland	24
1316	c	HYP546	Hypogonadotropic Hypogonadism 20 with or Without Anosmia	24
1317		TST003	Testicular Leukemia	24
1318	c	TTR028	Tetraamelia Syndrome 1	24
1319	c	TTR029	Tetraamelia Syndrome 2	24
1320		FNC003	Functionless Pituitary Adenoma	24
1321		PRD041	Periodic Fever, Menstrual Cycle-Dependent	24
1322		OVR016	Ovarian Endometrioid Stromal Sarcoma	23
1323		OVR104	Ovarian Melanoma	23
1324		ACT245	Acth-Dependent Cushing Syndrome	23
1325	c	46X058	46,xy Sex Reversal 10	23
1326	c	46X059	46,xx Sex Reversal 4	23
1327		PNC018	Pancreatic Serous Cystadenoma	23
1328	c	ATX041	Ataxia-Telangiectasia-Like Disorder 2	23
1329	c	MCR217	Microphthalmia, Syndromic 11	23
1330		CRT066	Cortisone Reductase Deficiency 2	23
1331		EPD012	Epididymal Neoplasm	22
1332	c	HLP022	Holoprosencephaly 8	22
1333		MSC129	Muscular Pseudohypertrophy-Hypothyroidism Syndrome	22
1334	c	INT047	Internal Hordeolum	22
1335		GST035	Gestational Ovarian Choriocarcinoma	21
1336		NNF001	Non-Functioning Pancreatic Endocrine Tumor	21
1337		MRB006	Morbid Obesity and Spermatogenic Failure	21
1338		PDT022	Pediatric Ovarian Germ Cell Tumor	21
1339		OVR003	Ovarian Angiosarcoma	21
1340	c	NPH107	Nephrotic Syndrome, Type 19	21
1341	c	TYP034	Type 1 Diabetes Mellitus 8	21
1342		THY106	Thyroglossal Duct Cyst, Familial	20
1343	c	HLP021	Holoprosencephaly 6	20
1344		PDT023	Pediatric Testicular Germ Cell Tumor	20
1345		DST037	Distal Monosomy 9p	20
1346	c	HYP355	Hypothyroidism, Congenital, Nongoitrous, 3	20
1347	c	HRN019	Hair-an Syndrome	20
1348	c	TYP052	Type 1 Diabetes Mellitus 19	19
1349		THY127	Thyroid Gland Hurthle Cell Carcinoma	19
1350		NRN045	Neuroendocrine Neoplasm of Appendix	19
1351		PNC017	Pancreatic Serous Cystic Neoplasm	18
1352	c	46X050	46,xx Sex Reversal 3	18
1353		GST111	Gastroenteropancreatic Neuroendocrine Neoplasm	18
1354		NRN044	Neuroendocrine Carcinoma of Pancreas	17
1355		NNF009	Non-Functioning Neuroendocrine Tumor of Pancreas	17
1356		NRN033	Neuroendocrine Tumor of the Colon	17
1357		THY126	Thyroid Gland Mucoepidermoid Carcinoma	17
1358	c	ATM063	Autoimmune Pancreatitis Type 2	16
1359		ACN028	Acanthosis Nigricans with Muscle Cramps and Acral Enlargement	16
1360	c	TST017	Testicular Malignant Germ Cell Cancer	16
1361	c	NNS019	Nonsyndromic Holoprosencephaly	16
1362		OVR004	Ovary Neuroendocrine Neoplasm	16
1363		FNC065	Functioning Neuroendocrine Tumor of Pancreas	16
1364		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
1365	c	NRB012	Neuroblastoma 5	15
1366	c	NRB016	Neuroblastoma 7	15
1367	c	MYC055	Mycobacterium Tuberculosis 3	15
1368		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	14
1369		PNC126	Pancreatic Squamous Cell Carcinoma	14
1370		THY092	Thymic Neuroendocrine Carcinoma	14
1371	c	NRB011	Neuroblastoma 4	13
1372	c	NRB013	Neuroblastoma 6	12
1373		MLG159	Malignant Pediatric Adrenal Gland Pheochromocytoma	12
1374	c	FML196	Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland	11
1375		OVR055	Ovarian Papillary Neoplasm	10
1376		CHL043	Childhood Embryonal Testis Carcinoma	8
1377		CHL026	Childhood Ovarian Embryonal Carcinoma	8
1378		SRT005	Serotonin-Producing Neuroendocrine Tumor of Pancreas	8
1379		PRP104	Prepubertal Anorexia Nervosa	8
1380		CHL038	Childhood Choriocarcinoma of the Ovary	7
1381	c	ALP107	Alpha-Thalassemia and Related Diseases	7
1382		RTV002	Rete Ovarii Adenocarcinoma	7
1383		OVR019	Ovarian Malignant Mesothelioma	7
1384		TST002	Testicular Brenner Tumor	7
1385		MLG047	Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland	7
1386	P	RRT025	Rare Thyroid Disease	7
1387		CHL064	Childhood Testicular Mixed Germ Cell Tumor	6
1388		GLN004	Glandular Pattern Ovarian Yolk Sac Tumor	6
1389	c	OVR018	Ovarian Clear Cell Malignant Adenofibroma	6
1390		PNC020	Pancreatic Solid Pseudopapillary Carcinoma	6
1391		WLL020	Well-Differentiated Thymic Neuroendocrine Carcinoma	6
1392		OVR028	Ovarian Squamous Cell Neoplasm	5
1393	c	RRD012	Rare Diabetes Mellitus Type 1	5
1394	c	RRD013	Rare Diabetes Mellitus Type 2	5
1395	c	BTT015	Beta-Thalassemia and Related Diseases	5
1396		MDR005	Moderately-Differentiated Thymic Neuroendocrine Carcinoma	5
1397		HPT010	Hepatoid Pattern Ovarian Yolk Sac Tumor	5
1398		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	5
1399	c	PRM355	Primary Ovarian Insufficiency 6	4
1400	c	PRM356	Primary Ovarian Insufficiency 7	4
1401	c	PRM359	Primary Ovarian Insufficiency 10	4
1402	c	PRM361	Primary Ovarian Insufficiency 12	4
1403	c	46X073	46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect	4
1404		PNC003	Pancreatic Invasive Mucinous Cystadenocarcinoma	4
1405	P	SYC001	Say Carpenter Syndrome	4
1406		RRH007	Rare Hypolipidemia	4
1407		46X078	46,xx Disorder of Sex Development Induced by Androgens Excess	4
1408	c	FRG006	Fragile X Syndrome Type 3	3
1409		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
1410		GST109	Gastroenteric Neuroendocrine Neoplasm	3
1411	P	RRG009	Rare Genetic Adrenal Disease	3
1412		END035	Endocrine Gland Cancer	43
1413	c	HYP836	Hypercholesterolemia, Familial, 1	73
1414	c	MLT156	Multiple Endocrine Neoplasia, Type I	72
1415	P	PLY014	Polycystic Kidney Disease	69
1416	P	HYP802	Hypocalcemia, Autosomal Dominant 1	68
1417	P	HYP768	Hyperlipoproteinemia, Type I	67
1418	c	HYP724	Hyperlipoproteinemia, Type Iii	67
1419		THY121	Thyroid Gland Anaplastic Carcinoma	67
1420	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	66
1421		LYS012	Lysosomal Acid Lipase Deficiency	65
1422	c	HYP604	Hyperinsulinemic Hypoglycemia, Familial, 2	65
1423	c	CNG012	Congenital Generalized Lipodystrophy	65
1424		ALS001	Alstrom Syndrome	65
1425		MRK001	Merkel Cell Carcinoma	64
1426	P	CRN038	Carney Complex Variant	64
1427		PRG017	Paraganglioma and Gastric Stromal Sarcoma	63
1428		PTT046	Pituitary Hormone Deficiency, Combined, 2	62
1429	c	ALP101	Alpha-Thalassemia	62
1430	P	PLL001	Pallister-Hall Syndrome	62
1431	c	HYP304	Hyperinsulinemic Hypoglycemia, Familial, 1	61
1432	P	PNC044	Pancreatitis	61
1433	P	VND007	Van Der Woude Syndrome 1	60
1434		DBT084	Diabetes Mellitus, Ketosis-Prone	60
1435		WST001	West Syndrome	59
1436	P	FML052	Familial Cold Autoinflammatory Syndrome	59
1437		FML063	Familial Glucocorticoid Deficiency	58
1438		CLS005	Clouston Syndrome	58
1439	c	SML009	Small Intestine Adenocarcinoma	57
1440		ISL003	Isolated Growth Hormone Deficiency	57
1441	P	HYP050	Hyperinsulinemic Hypoglycemia	57
1442	P	THL005	Thalassemia	56
1443		ISL001	Islet Cell Tumor	56
1444		ADR008	Adrenal Adenoma	55
1445	P	PSD015	Pseudohypoparathyroidism	55
1446	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	55
1447	c	FML116	Familial Cold Autoinflammatory Syndrome 1	55
1448	c	THY102	Thyroid Cancer, Nonmedullary, 2	55
1449		AND020	Androgen Insensitivity, Partial	55
1450		NNT017	Neonatal Adrenoleukodystrophy	54
1451	c	HYP271	Hyperinsulinemic Hypoglycemia, Familial, 4	53
1452		HYP732	Hyperalphalipoproteinemia 1	52
1453		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	52
1454	P	NNT058	Neonatal Diabetes	52
1455	c	46X082	46,xy Sex Reversal	52
1456	c	HYP807	Hyperinsulinemic Hypoglycemia, Familial, 6	52
1457		ARM004	Aromatase Excess Syndrome	51
1458	c	HYP326	Hyperinsulinemic Hypoglycemia, Familial, 5	51
1459		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
1460		OVR059	Ovary Adenocarcinoma	49
1461	c	FML253	Familial Cold Autoinflammatory Syndrome 3	49
1462		CHR661	Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction	49
1463		PGT003	Paget Disease, Extramammary	47
1464	c	FML297	Familial Thyroid Dyshormonogenesis	47
1465		HPT025	Hepatic Lipase Deficiency	47
1466		WLS003	Wilson-Turner X-Linked Mental Retardation Syndrome	47
1467	c	MCR245	Microphthalmia, Syndromic 8	46
1468	c	LFR007	Li-Fraumeni Syndrome 2	46
1469	c	ATM092	Autoimmune Polyendocrine Syndrome, Type Ii	45
1470		LRN001	Laurence-Moon Syndrome	45
1471		FSH001	Fish-Eye Disease	44
1472	c	SHR030	Short Qt Syndrome	44
1473	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	44
1474	P	TST026	Testicular Germ Cell Cancer	44
1475		LPP002	Lipoprotein Glomerulopathy	43
1476	c	PRS128	Persistent Mullerian Duct Syndrome, Types I and Ii	43
1477	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	43
1478		PNC118	Pancreas, Annular	43
1479	c	LPD019	Lipodystrophy, Partial, Acquired	42
1480		ONC003	Oncogenic Osteomalacia	42
1481	c	FML117	Familial Cold Autoinflammatory Syndrome 2	41
1482		GTR011	Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors	41
1483		BCH003	Boucher-Neuhauser Syndrome	41
1484	c	46X079	46,xy Sex Reversal 11	41
1485		OPS001	Opisthorchiasis	41
1486	c	HYP763	Hypogonadotropic Hypogonadism 23 Without Anosmia	40
1487	c	HMG029	Hemoglobin Se Disease	40
1488	c	HYP647	Hypogonadotropic Hypogonadism 24 Without Anosmia	40
1489	c	MTR023	Maturity-Onset Diabetes of the Young, Type 6	40
1490	c	46X055	46,xy Sex Reversal 3	40
1491		49X006	49, Xxxxy Syndrome	40
1492	c	CNG198	Congenital Disorder of Glycosylation, Type Il	40
1493	c	HNF003	Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	40
1494	c	MCR312	Microphthalmia, Syndromic 10	40
1495	P	ECT067	Ectodermal Dysplasia 4, Hair/nail Type	39
1496	c	PTT060	Pituitary Adenoma 5, Multiple Types	39
1497		TST004	Testicular Lymphoma	39
1498		OVR047	Ovarian Cystadenocarcinoma	38
1499	c	DNT021	Dent Disease 2	37
1500		ARC025	Arachnoid Cysts, Intracranial	37
1501	c	HYP548	Hypogonadotropic Hypogonadism 2 with or Without Anosmia	37
1502		CHR387	Chromosome Xp21 Deletion Syndrome	37
1503		PRP098	Proprotein Convertase 1/3 Deficiency	37
1504	c	MLG157	Malignant Pheochromocytoma	36
1505	c	HYP290	Hypobetalipoproteinemia, Familial, 2	36
1506		PLS002	Peliosis Hepatis	35
1507		PLM173	Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal	34
1508	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	34
1509		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	34
1510	P	LRG016	Large Intestine Adenocarcinoma	34
1511		PNC104	Pancreatic and Cerebellar Agenesis	34
1512	c	46X057	46,xy Sex Reversal 8	34
1513	c	46X081	46,xx Sex Reversal	33
1514		FCL045	Focal Facial Dermal Dysplasia 3, Setleis Type	33
1515	c	TYP055	Type 1 Diabetes Mellitus 22	31
1516	c	CRP022	Carpenter Syndrome 2	31
1517	c	THY056	Thyroid Dyshormonogenesis 3	31
1518	c	HYP600	Hyperaldosteronism, Familial, Type Ii	30
1519	c	HYP864	Hypoparathyroidism, Familial Isolated, 1	30
1520	c	HYP708	Hyperaldosteronism, Familial, Type Iv	30
1521		STY001	Satoyoshi Syndrome	30
1522		ADR014	Adrenal Medulla Cancer	28
1523	c	PNC094	Pancreatic Cancer 1	28
1524	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	28
1525	c	SHR031	Short Qt Syndrome 1	27
1526	c	DBT105	Diabetes Mellitus, Permanent Neonatal, 2	27
1527	c	ECT068	Ectodermal Dysplasia 6, Hair/nail Type	27
1528	c	ECT064	Ectodermal Dysplasia 5, Hair/nail Type	26
1529		DTH005	Diethylstilbestrol Syndrome	26
1530		PGD001	Pagod Syndrome	26
1531	c	PNC103	Pancreatic Cancer 4	26
1532	c	TYP057	Type 1 Diabetes Mellitus 24	25
1533		OVR062	Ovary Serous Adenocarcinoma	25
1534		MYM012	Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism	25
1535	c	TYP027	Type 1 Diabetes Mellitus 10	25
1536		MNT300	Mental Retardation, X-Linked, with Panhypopituitarism	25
1537	c	DBT013	Diabetes Mellitus, 6q24-Related Transient Neonatal	25
1538	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	24
1539	c	VND004	Van Der Woude Syndrome 2	24
1540	c	DBT106	Diabetes Mellitus, Permanent Neonatal, 3	24
1541	c	TYP029	Type 1 Diabetes Mellitus 3	24
1542	c	FML270	Familial Cold Autoinflammatory Syndrome 4	23
1543	c	TYP040	Type 1 Diabetes Mellitus 18	23
1544	c	NNN029	Noonan Syndrome 11	23
1545	c	PLY141	Polycystic Kidney Disease 5	22
1546	c	PNC095	Pancreatic Cancer 3	22
1547	c	PLY176	Polycystic Kidney Disease 4	22
1548	c	46X080	46,xx Sex Reversal 5	21
1549	c	TBL034	Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	21
1550	c	TYP049	Type 2 Diabetes Mellitus 2	21
1551		ILL008	Ileal Neuroendocrine Tumor	20
1552	c	PRD022	Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1	20
1553		PNC042	Pancreatic Intraductal Papillary-Colloid Carcinoma	20
1554	c	TYP038	Type 1 Diabetes Mellitus 15	20
1555	c	PRR033	Perrault Syndrome 6	20
1556		PNC007	Pancreas Lymphoma	19
1557		NRN047	Neuroendocrine Neoplasm of Pancreas	19
1558	c	PNC105	Pancreatic Agenesis 2	19
1559		MNT030	Mental Retardation Syndrome, Belgian Type	18
1560	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	18
1561	c	LPR016	Leprosy 4	16
1562	c	ACT247	Acth-Independent Macronodular Adrenal Hyperplasia 1	16
1563	c	TYP050	Type 2 Diabetes Mellitus 3	15
1564		DYS177	Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome	14
1565		HYP660	Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	14
1566		JJN009	Jejunal Neuroendocrine Tumor	14
1567	c	MYC054	Mycobacterium Tuberculosis 2	14
1568		DGS008	Digestive System Melanoma	13
1569	c	CMP100	Campomelic Dysplasia and Related Disorders	12
1570	c	ATS423	Autosomal Dominant Wolfram Syndrome	8
1571		CLS027	Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form	7
1572	c	RRD067	Rare Diabetes Mellitus	7
1573		CHL048	Childhood Teratocarcinoma of the Testis	7
1574	c	ADL036	Adult Central Nervous System Germinoma	6
1575		CLS025	Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency	6
1576	P	LPR021	Leprosy 3	71
1577	P	SRC025	Sarcoidosis 1	71
1578	c	PNC108	Pancreatitis, Hereditary	69
1579		PTT048	Pituitary Adenoma, Prolactin-Secreting	64
1580		AND002	Androgen Insensitivity Syndrome	63
1581	P	HYP069	Hyperparathyroidism	62
1582		ADR005	Adrenal Carcinoma	62
1583	P	PRM030	Permanent Neonatal Diabetes Mellitus	59
1584	P	PLY011	Polycystic Ovary Syndrome	57
1585		DNY001	Denys-Drash Syndrome	57
1586		BLP046	Blepharophimosis, Ptosis, and Epicanthus Inversus	56
1587	c	THY109	Thyroid Cancer, Nonmedullary, 1	55
1588		HYP134	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	54
1589	P	46X052	46,xx Sex Reversal 1	54
1590	c	CRN243	Carney Complex, Type 1	53
1591		SCH071	Schaaf-Yang Syndrome	53
1592	c	PSD066	Pseudohypoparathyroidism, Type Ib	52
1593		SMT003	Somatostatinoma	52
1594		END002	Endometrioid Ovary Carcinoma	52
1595	c	NPH055	Nephrotic Syndrome, Type 1	52
1596	c	NPH049	Nephrotic Syndrome, Type 2	51
1597	c	LPD033	Lipodystrophy, Congenital Generalized, Type 2	51
1598		CLL036	Culler-Jones Syndrome	49
1599	c	FML015	Familial Nephrotic Syndrome	48
1600	c	TBL031	Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	47
1601	c	HYP549	Hypogonadotropic Hypogonadism 5 with or Without Anosmia	46
1602	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	46
1603	c	DBT104	Diabetes Mellitus, Permanent Neonatal, 1	45
1604	c	NPH054	Nephrotic Syndrome, Type 3	45
1605	c	NPH102	Nephrotic Syndrome, Type 14	44
1606		ADR052	Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency	43
1607		ALP041	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	43
1608	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	43
1609		PLR023	Polr3-Related Leukodystrophy	42
1610		ADR051	Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency	42
1611		NVL003	Nivelon-Nivelon-Mabille Syndrome	42
1612	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	41
1613		KRK001	Krukenberg Carcinoma	39
1614	P	OVR010	Ovarian Brenner Tumor	39
1615	c	KNN007	Kenny-Caffey Syndrome, Type 2	39
1616		ISL015	Isolated Growth Hormone Deficiency, Type Ib	39
1617		GST004	Gastric Neuroendocrine Neoplasm	36
1618		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	35
1619	P	LYD011	Leydig Cell Hypoplasia	34
1620	c	PRR020	Perrault Syndrome 1	33
1621	c	AXN012	Axenfeld-Rieger Syndrome, Type 2	32
1622		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	32
1623		NRL023	Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset	32
1624		ACR079	Acrodysostosis with Multiple Hormone Resistance	32
1625		IDP085	Idiopathic Infantile Hypercalcemia	32
1626	c	ECT066	Ectodermal Dysplasia 9, Hair/nail Type	32
1627		KPP002	Keppen-Lubinsky Syndrome	30
1628	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	30
1629		PNC014	Pancreatic Serous Cystadenocarcinoma	29
1630	c	TBL033	Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	28
1631		THY064	Thyroid Hormone Metabolism, Abnormal	28
1632	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	27
1633		VNS015	Van Esch-O'driscoll Syndrome	27
1634	c	HYP531	Hypogonadotropic Hypogonadism 4 with or Without Anosmia	27
1635	c	HYP521	Hypogonadotropic Hypogonadism 10 with or Without Anosmia	26
1636		SML004	Small Intestine Neuroendocrine Neoplasm	26
1637	c	NPH103	Nephrotic Syndrome, Type 15	26
1638	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	26
1639	c	LPD044	Lipodystrophy, Familial Partial, Type 7	25
1640	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	24
1641	c	NPH070	Nephrotic Syndrome, Type 6	23
1642		THY065	Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia	23
1643		48X002	48,xxxy Syndrome	23
1644		DFN313	Deafness-Hypogonadism Syndrome	23
1645	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	21
1646		MLP006	Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type	21
1647	c	GRW042	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant	20
1648		LYM123	Lymphedema-Hypoparathyroidism Syndrome	20
1649	c	LPR023	Leprosy 1	19
1650	c	LPR017	Leprosy 5	19
1651	c	HYP867	Hypoparathyroidism, Familial Isolated, 2	17
1652		ADR047	Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone	14
1653	c	NPH115	Nephrotic Syndrome, Type 23	13
1654	c	PRT255	Proteasome-Associated Autoinflammatory Syndrome 4	13
1655		MXD045	Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas	7
1656	P	NNN008	Noonan Syndrome 1	77
1657		CHR103	Charge Syndrome	66
1658	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	65
1659	c	LPD015	Lipodystrophy, Familial Partial, Type 2	61
1660	c	MCR256	Microphthalmia, Syndromic 9	61
1661	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	60
1662	P	MLT074	Multiple Endocrine Neoplasia	59
1663	c	HYP731	Hyperaldosteronism, Familial, Type I	58
1664		FRS002	Frasier Syndrome	54
1665	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	53
1666		IMM179	Immunodeficiency 31c	53
1667	c	GLC112	Galactosemia Iii	51
1668	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	50
1669		THM002	Thiamine-Responsive Megaloblastic Anemia Syndrome	50
1670		GRD009	Gordon Holmes Syndrome	50
1671		BRJ001	Borjeson-Forssman-Lehmann Syndrome	50
1672	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	49
1673	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	48
1674	c	MCR251	Microphthalmia, Syndromic 6	48
1675	c	MCR263	Microphthalmia, Syndromic 1	48
1676		CHP002	Chops Syndrome	47
1677	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
1678		SML031	Small Cell Carcinoma of the Bladder	46
1679	c	LPD021	Lipodystrophy, Familial Partial, Type 3	46
1680	P	ACQ022	Acquired Generalized Lipodystrophy	45
1681	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	44
1682	P	PRR025	Perrault Syndrome	42
1683		IMM064	Immunodeficiency, Common Variable, 10	42
1684	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	42
1685		PSD021	Pseudovaginal Perineoscrotal Hypospadias	42
1686	c	LPD034	Lipodystrophy, Familial Partial, Type 4	41
1687	c	BRD044	Bardet-Biedl Syndrome 17	41
1688	c	LPD030	Lipodystrophy, Familial Partial, Type 5	40
1689		OVR112	Ovarian Germ Cell Cancer	38
1690	c	CNG195	Congenital Disorder of Glycosylation, Type Id	37
1691	c	NPH076	Nephrotic Syndrome, Type 10	37
1692	c	BRD035	Bardet-Biedl Syndrome 15	36
1693	c	CNG188	Congenital Disorder of Glycosylation, Type if	35
1694	c	HYP438	Hyperaldosteronism, Familial, Type Iii	35
1695	c	KNN009	Kenny-Caffey Syndrome, Type 1	35
1696	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	34
1697	c	LPR022	Leprosy 2	34
1698	c	WLF011	Wolfram-Like Syndrome, Autosomal Dominant	33
1699	c	NNN024	Noonan Syndrome 9	30
1700	c	NPH096	Nephrotic Syndrome, Type 12	29
1701	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	27
1702	c	HYP514	Hypogonadotropic Hypogonadism 8 with or Without Anosmia	27
1703	c	PNC111	Pancreatic Cancer 2	26
1704	c	HYP443	Hypogonadotropic Hypogonadism 13 with or Without Anosmia	26
1705	c	HYP538	Hypogonadotropic Hypogonadism 17 with or Without Anosmia	25
1706	c	PRR022	Perrault Syndrome 2	25
1707	c	NPH074	Nephrotic Syndrome, Type 9	24
1708	c	HYP831	Hyperparathyroidism, Transient Neonatal	24
1709	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	23
1710	c	GLC115	Galactosemia Iv	23
1711	P	RBN007	Rubinstein Taybi Like Syndrome	20
1712	c	NPH104	Nephrotic Syndrome, Type 16	20
1713		CLB031	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	17
1714	c	LPR020	Leprosy 6	16
1715	c	ATS404	Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations	12
1716	c	ATS481	Autosomal Dominant Beta Thalassemia	10
1717	c	GRW044	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2	6
1718	P	DSR041	Disorder of Multiple Glycosylation	6
1719	c	GRW043	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1	5
1720		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	68
1721	c	GST103	Gastric Cancer, Hereditary Diffuse	68
1722		CRB011	Cerebrotendinous Xanthomatosis	65
1723		ALP100	Alpha-Thalassemia/mental Retardation Syndrome, X-Linked	64
1724	P	DNT020	Dent Disease 1	63
1725	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	60
1726		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	58
1727	c	MYT020	Myotonic Dystrophy 2	57
1728		APP015	Apparent Mineralocorticoid Excess	57
1729	c	MCR241	Microphthalmia, Syndromic 3	55
1730	c	ATM024	Autoimmune Pancreatitis	52
1731	c	PSD047	Pseudo-Turner Syndrome	52
1732		ADR042	Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency	50
1733	c	BRD020	Bardet-Biedl Syndrome 8	49
1734		GLC106	Glucocorticoid Resistance, Generalized	48
1735		MHM001	Mehmo Syndrome	47
1736	c	BRD032	Bardet-Biedl Syndrome 14	46
1737	c	SRC023	Sarcoidosis 2	44
1738	P	HRD086	Hereditary Hypophosphatemic Rickets	40
1739	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	39
1740	c	BRD048	Bardet-Biedl Syndrome 18	39
1741	c	MCR252	Microphthalmia, Syndromic 5	38
1742	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	38
1743	P	FML156	Familial Hyperaldosteronism	38
1744		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	31
1745	c	MCR212	Microphthalmia, Syndromic 12	28
1746	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
1747		CHR506	Choroideremia, Deafness, and Mental Retardation	27
1748	c	PRR024	Perrault Syndrome 3	24
1749	c	ATM064	Autoimmune Pancreatitis Type 1	20
1750		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	17
1751	P	ATX030	Ataxia-Telangiectasia	80
1752	P	TRN020	Turner Syndrome	67
1753	c	PSD108	Pseudohypoparathyroidism, Type Ia	65
1754	P	AXN002	Axenfeld-Rieger Syndrome	63
1755	c	RBN021	Rubinstein-Taybi Syndrome 1	57
1756	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	49
1757	c	NNN009	Noonan Syndrome 2	38
1758	c	NNN036	Noonan Syndrome 13	24
1759	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	21
1760	c	SRC024	Sarcoidosis 3	18
1761		MCC012	Mccune-Albright Syndrome	70
1762	P	FML068	Familial Hypocalciuric Hypercalcemia	55
1763	c	BRD015	Bardet-Biedl Syndrome 3	48
1764	c	NNN010	Noonan Syndrome 3	47
1765	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	47
1766	P	PHS005	Peho Syndrome	44
1767	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	40
1768	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	38
1769	c	NNN020	Noonan Syndrome 7	38
1770	c	PSD117	Pseudohypoparathyroidism, Type Ic	37
1771	c	NNN021	Noonan Syndrome 8	37
1772	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
1773	c	PHL010	Peho-Like Syndrome	31
1774	c	PSD104	Pseudohypoparathyroidism, Type Ii	31
1775	c	BRD010	Bardet-Biedl Syndrome 1	64
1776	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	59
1777		ARM001	Aromatase Deficiency	54
1778	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	45
1779	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	41
1780	c	NNN025	Noonan Syndrome 10	30
1781	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
1782		PSD014	Pseudopseudohypoparathyroidism	54
1783	c	BRD016	Bardet-Biedl Syndrome 4	44
1784	c	CNG617	Congenital Disorder of Glycosylation, Type Iit	25
1785	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	51
1786	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	31
1787	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	45
1788	c	CNG199	Congenital Disorder of Glycosylation, Type Im	44
1789	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	47
1790	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	43
1791	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	38
1792	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	35
1793	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	34
1794	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	50