Endocrine Diseases Category (2122 diseases)

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

#	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
853	P	RSS029	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha	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
1291	c	RSS030	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta	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