Nephrological Diseases Category (1378 diseases)

Including: Nephrological, Kidney, Bladder, Urinary, Renal
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	P	MPL001	Maple Syrup Urine Disease	66
2		HRD029	Hereditary Leiomyomatosis and Renal Cell Cancer	57
3	P	BLD134	Bladder Cancer	70
4		DBT091	Diabetes Insipidus, Nephrogenic, Autosomal	67
5		PPL048	Papillorenal Syndrome	50
6	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	39
7		EPL199	Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure	31
8	P	HYP761	Hypouricemia, Renal, 1	41
9		DNB001	Danubian Endemic Familial Nephropathy	47
10	c	HYP534	Hypomagnesemia 3, Renal	37
11		PRL032	Perlman Syndrome	51
12	P	DNT020	Dent Disease 1	59
13		ANG060	Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps	41
14		IGG001	Iga Glomerulonephritis	58
15		CNG116	Congenital Nephrotic Syndrome Finnish Type	19
16	P	HYP210	Hypomagnesemia 2, Renal	35
17	P	CNG499	Congenital Anomalies of Kidney and Urinary Tract 2	57
18		HMT008	Hematuria, Benign Familial	50
19		SLC024	Slc4a1-Associated Distal Renal Tubular Acidosis	17
20		SML031	Small Cell Carcinoma of the Bladder	38
21		NPH098	Nephrolithiasis, X-Linked Recessive, with Renal Failure	31
22	c	WLM013	Wilms Tumor 1	65
23	P	MMB011	Membranous Nephropathy	58
24		HYP257	Hypoparathyroidism, Sensorineural Deafness, and Renal Disease	55
25	P	HRD009	Hereditary Wilms' Tumor	38
26	c	MCK030	Meckel Syndrome, Type 7	37
27	c	WLM005	Wilms Tumor 2	28
28	P	HYP658	Hypoplastic Amelogenesis Imperfecta	27
29	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	23
30	c	WLM017	Wilms Tumor 4	18
31	c	WLM015	Wilms Tumor 3	15
32	c	FML094	Familial Wilms Tumor 2	7
33		NRG002	Neurogenic Bladder	53
34		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	29
35		RNL051	Renal Cysts and Diabetes Syndrome	54
36	P	KDN018	Kidney Disease	68
37	c	RNL046	Renal Tubular Acidosis, Distal, Autosomal Dominant	43
38	c	MCR113	Microvascular Complications of Diabetes 3	57
39		EXS017	Exstrophy of Bladder	49
40	P	RNL100	Renal Hypodysplasia/aplasia 1	59
41		RNL024	Renal Glucosuria	53
42		BLD044	Bladder Disease	51
43	P	URF003	Urofacial Syndrome 1	50
44		RNL054	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	25
45		LPD004	Lipoid Nephrosis	51
46	P	SNR003	Senior-Loken Syndrome 1	55
47	P	AML002	Amelogenesis Imperfecta	46
48	P	GLL032	Galloway-Mowat Syndrome	45
49	c	GLL038	Galloway-Mowat Syndrome 1	40
50	c	RNL047	Renal Tubular Acidosis, Distal, Autosomal Recessive	37
51	c	AML061	Amelogenesis Imperfecta, Type Ie	35
52	c	BKV001	Bk-Virus Nephropathy	26
53	c	GLL040	Galloway-Mowat Syndrome 3	24
54	c	GLL041	Galloway-Mowat Syndrome 4	22
55	c	GLL042	Galloway-Mowat Syndrome 5	22
56	c	AML050	Amelogenesis Imperfecta, Type if	20
57	c	AML018	Amelogenesis Imperfecta, Type Ic	19
58	c	GLL043	Galloway-Mowat Syndrome 2	8
59		NPH091	Nephrolithiasis, Calcium Oxalate	60
60		DBT092	Diabetes Insipidus, Nephrogenic, X-Linked	37
61		BLD131	Bladder Urothelial Carcinoma	62
62		URN009	Urinary System Disease	49
63	P	RNL028	Renal Tubular Dysgenesis	48
64		INT224	Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital	26
65	c	CNG509	Congenital Anomalies of Kidney and Urinary Tract 1	25
66		CYS036	Cystinosis, Nephropathic	52
67		NPH082	Nephrosis with Deafness and Urinary Tract and Digital Malformations	16
68		RNL039	Renal Dysplasia-Limb Defects Syndrome	27
69		TRT015	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia	22
70	c	CHR089	Chronic Kidney Failure	73
71		CKT002	Cakut	42
72	c	RNL113	Renal Failure, Progressive, with Hypertension	31
73	c	FCL082	Focal Segmental Glomerulosclerosis 4	22
74		MLT033	Multicentric Osteolysis Nephropathy	10
75		BLD029	Bladder Dome Cancer	8
76		CRP011	Corpus Callosum Agenesis Double Urinary Collecting	6
77	c	WLM011	Wilms Tumor 6	48
78		RNL120	Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation	23
79		SPR001	Superficial Urinary Bladder Cancer	29
80		ICH068	Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	23
81		HMR004	Hemorrhagic Fever with Renal Syndrome	61
82	P	RNL007	Renal Tubular Acidosis	52
83		ADN024	Adenine Phosphoribosyltransferase Deficiency	50
84		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	38
85		BLD049	Bladder Transitional Cell Papilloma	37
86		LWC001	Low Compliance Bladder	32
87		NPH002	Nephrogenic Adenoma of Urinary Bladder	24
88		URN001	Urinary Bladder Small Cell Neuroendocrine Carcinoma	23
89		LMY010	Leiomyomatosis, Diffuse, with Alport Syndrome	23
90	c	HYP302	Hypomagnesemia 4, Renal	18
91		BLD026	Bladder Trigone Cancer	8
92		PRS055	Pierson Syndrome	42
93	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	24
94		BFD002	Bifid Nose with or Without Anorectal and Renal Anomalies	24
95	c	HYP376	Hypouricemia, Renal, 2	19
96		ANR016	Aniridia Renal Agenesis Psychomotor Retardation	10
97	c	ACT068	Acute Cystitis	56
98	P	IGN003	Iga Nephropathy 1	40
99	c	BLD008	Bladder Carcinoma in Situ	39
100		BLD047	Bladder Squamous Cell Carcinoma	39
101	c	NPH072	Nephrotic Syndrome, Type 7	29
102	c	CHR087	Chronic Cystitis	29
103		DBT089	Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification	18
104		RRM005	Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy	11
105	P	RNL017	Renal Oncocytoma	48
106		RNL018	Renal Pelvis Carcinoma	37
107		MLT161	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly	31
108		JBR007	Joubert Syndrome with Renal Anomalies	31
109	P	RNL115	Renal Tubular Acidosis, Proximal	29
110		URN022	Urinary Tract Infections, Recurrent	28
111		NPH078	Nephrolithiasis, Uric Acid	24
112	c	HYP445	Hypomagnesemia 6, Renal	19
113		BRC111	Brachymesomelia-Renal Syndrome	15
114		FML327	Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	10
115		URN005	Urinary Bladder Villous Adenoma	7
116		JWT001	Jewett-Marshall Bladder Cancer	7
117		NPH003	Nephrocalcinosis	51
118		URN003	Urinary Schistosomiasis	50
119	c	CNG029	Congenital Mesoblastic Nephroma	43
120	c	MCR112	Microvascular Complications of Diabetes 2	42
121	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	28
122		BLD025	Bladder Sarcoma	24
123	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	20
124	P	NPH012	Nephrotic Syndrome	59
125		BLD009	Bladder Neck Obstruction	38
126		RNL094	Renal Dysplasia, Cystic	38
127		OLG021	Oligomeganephronia	35
128		NPH039	Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities	19
129		PRT121	Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis	19
130		THY044	Thymic-Renal-Anal-Lung Dysplasia	16
131	c	RNL122	Renal Hypodysplasia/aplasia 3	49
132	P	RNL045	Renal Tubular Acidosis, Distal	45
133	c	BRN131	Branchiootorenal Syndrome 1	39
134		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	35
135		ACT043	Acute Urate Nephropathy	27
136		URN011	Urinary Tract Papillary Transitional Cell Benign Neoplasm	25
137		CHR176	Chromophil Renal Cell Carcinoma	24
138		BLD046	Bladder Papillary Transitional Cell Neoplasm	23
139		APM002	Aapoai Amyloidosis	15
140		APM001	Aapoaii Amyloidosis	13
141		TRN058	Transitional Cell Cancer of the Renal Pelvis and Ureter	12
142		BLD003	Bladder Lateral Wall Cancer	11
143		PLY043	Polyomavirus Allograft Nephropathy	10
144		SPL022	Split Hand Urinary Anomalies Spina Bifida	8
145		URN004	Urinary Bladder Inverted Papilloma	7
146		BLD027	Bladder Neck Cancer	7
147		HST012	Histidinuria Renal Tubular Defect	6
148	P	URN007	Urinary Bladder Anterior Wall Cancer	6
149	c	URN006	Urinary Bladder Posterior Wall Cancer	6
150		NRX002	Neuroaxonal Dystrophy Renal Tubular Acidosis	5
151		RDR001	Radio Renal Syndrome	5
152		CYS013	Cystinuria	65
153		CYS039	Cystic Kidney Disease	54
154		PRN038	Prune Belly Syndrome	49
155	c	MCR120	Microvascular Complications of Diabetes 7	44
156	c	MCR130	Microvascular Complications of Diabetes 6	43
157	c	MCR133	Microvascular Complications of Diabetes 4	43
158		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	41
159	c	NPH075	Nephronophthisis 18	36
160		NPH037	Nephronophthisis-Like Nephropathy 1	28
161	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	59
162		NPH009	Nephrolithiasis	57
163		OBS082	Obstructive Nephropathy	51
164	P	RNL015	Renal Hypertension	50
165		NPH010	Nephrosclerosis	45
166		RNL021	Renal Tubular Transport Disease	30
167		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	25
168	c	ART063	Arthrogryposis, Renal Dysfunction, and Cholestasis 2	22
169		BLD023	Bladder Leiomyoma	19
170		NPH014	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	19
171		DNT019	Daentl Towsend Siegel Syndrome	12
172		CHL032	Childhood Multilocular Cystic Kidney Neoplasm	9
173	P	FNC004	Fanconi Syndrome	50
174		ACT003	Acute Kidney Tubular Necrosis	44
175		RNL097	Renal Artery Disease	42
176		FML029	Familial Renal Papillary Carcinoma	40
177	c	FNC059	Fanconi-Like Syndrome	39
178		RNL012	Renal Tuberculosis	39
179	c	NPH077	Nephronophthisis 19	37
180		INV004	Invasive Bladder Transitional Cell Carcinoma	37
181		NPH001	Nephrogenic Adenoma	34
182		BLD028	Bladder Lymphoma	33
183		BLD045	Bladder Diverticulum	33
184		HNM002	Hinman Syndrome	32
185		BLD041	Bladder Calculus	29
186		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	26
187		RNL008	Renal Artery Atheroma	26
188	c	PRM200	Primary Fanconi Syndrome	20
189		THY065	Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia	19
190		BLD065	Blue Diaper Syndrome	19
191	c	RNL099	Renal Hypodysplasia/aplasia 2	19
192		RDL030	Radial-Renal Syndrome	19
193		RNL019	Renal Pelvis Transitional Cell Carcinoma	18
194		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	18
195	c	MLG055	Malignant Cystic Nephroma	15
196		AFB003	Afib Amyloidosis	14
197		LGH017	Leigh Syndrome with Nephrotic Syndrome	13
198	P	BNG003	Benign Hypertensive Renal Disease	7
199		ACR045	Acro-Pectoro-Renal Field Defect	6
200		BLD022	Bladder Flat Intraepithelial Lesion	5
201		INB002	Inborn Renal Aminoaciduria	5
202	c	VSC019	Vesicoureteral Reflux 1	59
203	P	CYS007	Cystic Nephroma	40
204		NPH013	Nephrogenic Syndrome of Inappropriate Antidiuresis	33
205	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	33
206		KDN006	Kidney Papillary Necrosis	31
207	c	DNT021	Dent Disease 2	27
208	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	26
209	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	25
210	P	C1Q005	C1q Nephropathy	24
211	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	22
212	P	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	20
213	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
214		CRM007	Crome Syndrome	19
215	c	IGN004	Iga Nephropathy 3	17
216		BLD030	Bladder Tuberculosis	16
217		RNL078	Renal Dysplasia	47
218		IMN001	Iminoglycinuria	45
219	P	FNC026	Fanconi Renotubular Syndrome 1	32
220	P	MDL008	Medullary Cystic Kidney Disease 1	31
221		LWR004	Lower Urinary Tract Calculus	26
222		STN006	Steinfeld Syndrome	25
223	c	RNL092	Renal-Hepatic-Pancreatic Dysplasia 1	23
224		CNG495	Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay	20
225	c	FNC049	Fanconi Renotubular Syndrome 3	19
226	c	BRN086	Branchiootorenal Syndrome 2	19
227	c	FNC034	Fanconi Renotubular Syndrome 2	18
228		BTM003	Beta-Aminoisobutyric Aciduria	15
229	P	GLL020	Gallbladder Disease	63
230		END030	End Stage Renal Failure	59
231		URN010	Urinary Tract Obstruction	57
232		FRS002	Frasier Syndrome	55
233		SCN001	Secondary Hyperparathyroidism of Renal Origin	52
234	c	GLL024	Gallbladder Disease 1	51
235		HYP348	Hyperglycinuria	38
236		HYP114	Hypertensive Nephropathy	32
237		MCN004	Mucinous Tubular and Spindle Renal Cell Carcinoma	30
238	P	HRD020	Hereditary Renal Cell Carcinoma	29
239		MLL021	Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies	28
240	c	FML269	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	27
241		RNL013	Renal Adenoma	24
242		PLY179	Polyomavirus-Associated Nephropathy	22
243		VNT030	Ventriculomegaly with Cystic Kidney Disease	22
244		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	20
245		ATH012	Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	19
246	c	URF002	Urofacial Syndrome 2	19
247		PHT013	Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction	19
248		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	18
249	c	IGN002	Iga Nephropathy 2	17
250		BLT020	Bilateral Multicystic Dysplastic Kidney	17
251		ERY007	Erythropoietin Polycythemia	16
252	c	RNL117	Renal Tubular Acidosis Iii	15
253		NPH008	Nephrogenic Adenoma of the Urethra	15
254	P	SPR076	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	15
255		HST019	Histidinuria Due to a Renal Tubular Defect	14
256		BLR029	Biliary Malformation with Renal Tubular Insufficiency	13
257		MLT112	Multiloculated Renal Cyst	12
258		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	11
259		RNL036	Renal Dysplasia Diffuse Cystic	10
260	c	CNG407	Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization	10
261		RNL088	Renal Cell Carcinoma Associated with Neuroblastoma	9
262		NNN004	Non-Invasive Bladder Urothelial Carcinoma	9
263		URT023	Ureteric Orifice Cancer	9
264		BTM002	Beta-Amino Acids, Renal Transport of	7
265		URN021	Urinary Bladder, Atony of	7
266		LNG042	Langer Nishino Yamaguchi Syndrome	6
267		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
268		CLR016	Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma	6
269		MCR006	Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma	6
270		PLS004	Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma	6
271		MCR008	Microcystic Variant Infiltrating Bladder Urothelial Carcinoma	6
272		NST001	Nested Variant Infiltrating Bladder Urothelial Carcinoma	6
273		LPD005	Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma	6
274		BLD011	Bladder Verrucous Squamous Cell Carcinoma	6
275		JJN005	Jejunal Atresia with Renal Adysplasia	6
276		RNL121	Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies	6
277		IDP060	Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis	6
278		BLD012	Bladder Urothelial Papillary Carcinoma	5
279	c	BLT012	Bilateral Renal Agenesis Dominant Type	5
280		NNR001	Non-Renal Secondary Hyperparathyroidism	5
281		STN004	Stone in Bladder Diverticulum	5
282		NNT002	Neonatal Urinary Tract Infectious Disease	5
283		DBL008	Double Uterus-Hemivagina-Renal Agenesis	4
284		OCL029	Oculo Skeletal Renal Syndrome	3
285		ISC007	Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency	3
286	P	MCR115	Microvascular Complications of Diabetes 5	70
287	P	CYS018	Cystitis	58
288		URM002	Uremia	52
289		ANR004	Anuria	49
290		URT031	Ureteral Disease	43
291		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	31
292	c	BLD040	Bladder Benign Neoplasm	24
293	c	RNL095	Renal-Hepatic-Pancreatic Dysplasia 2	24
294		WBB001	Webb-Dattani Syndrome	22
295	P	VRT014	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1	20
296		MDF002	Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis	18
297	c	VRT015	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2	18
298		MPL011	Maple Syrup Urine Disease, Mild Variant	11
299		ACT006	Acute Gonococcal Cystitis	10
300		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	50
301		INT067	Interstitial Nephritis	49
302		KRN001	Korean Hemorrhagic Fever	44
303		MLT084	Multicystic Dysplastic Kidney	38
304		URT004	Urethral Syndrome	37
305		RNL025	Renal Hypoplasia	37
306		PYR004	Pyuria	35
307		KDN001	Kidney Cortex Necrosis	29
308	c	CRN110	Cranioectodermal Dysplasia 3	26
309	c	CRN111	Cranioectodermal Dysplasia 4	24
310	c	FCL043	Focal Segmental Glomerulosclerosis 6	23
311		THV001	Thauvin-Robinet-Faivre Syndrome	22
312		BRN134	Brain Malformations with or Without Urinary Tract Defects	22
313	c	MDL021	Medullary Cystic Kidney Disease 2	21
314		BLT024	Bilateral Renal Aplasia	21
315		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	20
316		BRK013	Birk-Landau-Perez Syndrome	19
317	c	VSC046	Vesicoureteral Reflux 8	18
318	c	VSC025	Vesicoureteral Reflux 3	18
319	c	VSC020	Vesicoureteral Reflux 2	16
320		CFH006	Cfhr5 Deficiency	15
321		SQL002	Squalene Synthase Deficiency	9
322		MCR366	Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome	8
323		INF035	Infiltrating Renal Pelvis Transitional Cell Carcinoma	5
324	c	PRC016	Pre-Eclampsia	60
325	P	ECL001	Eclampsia	57
326		LMY014	Leiomyoma, Uterine	56
327	c	SVR005	Severe Pre-Eclampsia	56
328	c	FCL025	Focal Segmental Glomerulosclerosis 1	55
329		PRS129	Prostatic Hyperplasia, Benign	51
330		INV006	Inverted Papilloma	50
331		RNL077	Renal Fibrosis	50
332		KDN015	Kidney Angiomyolipoma	47
333		FML031	Female Stress Incontinence	38
334		NPH006	Nephrogenic Adenofibroma	34
335	c	KDN016	Kidney Benign Neoplasm	32
336		CLL007	Cellular Congenital Mesoblastic Nephroma	30
337		CLR112	Clear Cell Papillary Renal Cell Carcinoma	30
338		RNL001	Renal Artery Obstruction	29
339	P	ADL014	Adult Mesoblastic Nephroma	28
340		IMP003	Impaired Renal Function Disease	27
341	P	RNL123	Renal Agenesis, Bilateral	26
342		ALP047	Alport Syndrome and Thin Basement Membrane Nephropathy	24
343		HYP683	Hypogonadism-Cataract Syndrome	23
344	c	MLG004	Malignant Hypertensive Renal Disease	23
345		EPT005	Epithelial Predominant Wilms' Tumor	23
346	c	INT262	Intermediate Maple Syrup Urine Disease	23
347		ESN003	Eosinophilic Variant of Chromophobe Renal Cell Carcinoma	22
348		URC005	Urachal Cyst	21
349	c	SNR016	Senior-Loken Syndrome 9	21
350		CRB163	Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome	20
351	c	FCL027	Focal Segmental Glomerulosclerosis 3	20
352		TFR002	Tafro Syndrome	20
353		BRN121	Branchiootorenal/branchiootic Syndrome	20
354	c	FCL026	Focal Segmental Glomerulosclerosis 2	20
355	c	FCL085	Focal Segmental Glomerulosclerosis 7	20
356		FRS010	Forsythe-Wakeling Syndrome	19
357	c	WLM018	Wilms Tumor 5	19
358	c	FCL028	Focal Segmental Glomerulosclerosis 5	19
359		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	19
360	c	FML028	Familial Renal Oncocytoma	18
361	c	SNR005	Senior-Loken Syndrome 5	18
362		KDN004	Kidney Hemangiopericytoma	18
363		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	18
364		UNL014	Unilateral Multicystic Dysplastic Kidney	18
365		NLP003	Nail-Patella-Like Renal Disease	17
366		MLY011	Maleylacetoacetate Isomerase Deficiency	17
367		MTH075	Methionine Malabsorption Syndrome	16
368		NPH097	Nephrosialidosis	16
369		CTR151	Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	16
370	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	15
371		RNL109	Renal Hypoplasia, Bilateral	15
372		GLM024	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria	15
373		CHN073	Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	13
374		TBL026	Tubulocystic Renal Cell Carcinoma	13
375		RNL116	Renal and Mullerian Duct Hypoplasia	13
376		CNG532	Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	13
377		TBL024	Tubular Renal Disease-Cardiomyopathy Syndrome	13
378		SNR014	Senior-Boichis Syndrome	13
379		PX2001	Pax2-Related Disorder	13
380		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	12
381		SPR075	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis	12
382		NPH100	Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease	12
383		ACQ048	Acquired Cystic Disease-Associated Renal Cell Carcinoma	12
384		MSN012	Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities	10
385	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	9
386		NRP052	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	9
387		NDL023	Noduli Cutanei, Multiple, with Urinary Tract Abnormalities	9
388	c	KDN012	Kidney Carcinoma in Situ	9
389		STR009	Stromal Predominant Kidney Wilms' Tumor	9
390		RNL107	Renal Dysplasia, Bilateral	9
391		HYP787	Hypophosphatemia, Renal, with Intracerebral Calcifications	9
392		PLV019	Pelvic Lipomatosis with Crossed Renal Ectopia	8
393		BLS005	Blastema Predominant Kidney Wilms' Tumor	8
394		NPH050	Nephropathy, Progressive, with Deafness	8
395		MXD009	Mixed Cell Type Kidney Wilms' Tumor	8
396		RNL010	Renal Pelvis Inverted Papilloma	8
397		CHL044	Childhood Kidney Angiomyolipoma	8
398		URL004	Urolithiasis, Uric Acid, Autosomal Dominant	8
399		CNG337	Congenital Renal Artery Stenosis	7
400		RNL106	Renal Dysplasia, Unilateral	7
401		RNL108	Renal Hypoplasia, Unilateral	6
402		BLD013	Bladder Urachal Squamous Cell Carcinoma	6
403	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
404		KLL010	Kallikrein, Decreased Urinary Activity of	6
405		IDP058	Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change	6
406		INF024	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma	6
407		HRD003	Hereditary Conventional Renal Cell Carcinoma	6
408		CLS004	Classic Congenital Mesoblastic Nephroma	5
409		BLD050	Bladder Urachal Carcinoma	5
410		BLD004	Bladder Urachal Urothelial Carcinoma	5
411		DRG019	Drug-Related Renal Tubular Dysgenesis	5
412		RDC015	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	5
413	c	RNL049	Renal Tubular Acidosis, Distal, Type 4	5
414		SPR074	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes	5
415		IDP059	Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation	5
416		LYM013	Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma	5
417	c	ATS111	Autosomal Dominant Proximal Renal Tubular Acidosis	5
418		CLS003	Classic Variant of Chromophobe Renal Cell Carcinoma	5
419		RNL020	Renal Pelvis Urothelial Papilloma	4
420		URN002	Urinary Tract Non-Invasive Transitional Cell Neoplasm	4
421		EPT027	Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract	4
422		BLD024	Bladder Squamous Papilloma	4
423		SPR078	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy	4
424		SPR073	Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation	4
425		NPH099	Nephropathy, Chronic Tubulointerstitial	3
426		PLM171	Pulmonic Stenosis and Congenital Nephrosis	3
427		ULN026	Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia	3
428		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	3
429		GLY095	Glycoprotein, Renal	3
430		CRD213	Cardiomyopathy-Renal Anomalies Syndrome	3
431		RNL030	Renal Adysplasia Dominant Type	2
432		RNL035	Renal Dysplasia Diffuse Autosomal Recessive	2
433		RNL031	Renal Agenesis Meningomyelocele Mullerian Defect	2
434	c	SYS001	Systemic Lupus Erythematosus	88
435		MYL069	Myeloma, Multiple	85
436	P	FNC027	Fanconi Anemia, Complementation Group a	82
437	P	NNN008	Noonan Syndrome 1	79
438	P	SRC025	Sarcoidosis 1	76
439	P	NRF023	Neurofibromatosis, Type Ii	75
440		BHC003	Behcet Syndrome	73
441		VNH007	Von Hippel-Lindau Syndrome	72
442	P	ALG028	Alagille Syndrome 1	72
443		FBR012	Fabry Disease	72
444	P	SYS005	Systemic Scleroderma	69
445	P	TRN020	Turner Syndrome	69
446	P	LPS004	Lupus Erythematosus	69
447		SMT004	Smith-Lemli-Opitz Syndrome	69
448	P	TMP003	Temporal Arteritis	69
449	P	PSD087	Pseudoxanthoma Elasticum	68
450	P	AMY004	Amyloidosis	68
451		GRN037	Granulomatosis with Polyangiitis	68
452	c	TBR026	Tuberous Sclerosis 2	67
453		LWC002	Lowe Oculocerebrorenal Syndrome	67
454	c	GLY008	Glycogen Storage Disease Ii	66
455	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	66
456	P	THL005	Thalassemia	65
457		WLL001	Williams-Beuren Syndrome	63
458	P	MCK013	Meckel Syndrome, Type 1	62
459		LSC001	Lesch-Nyhan Syndrome	62
460		ALP103	Alpha-1-Antitrypsin Deficiency	61
461		GT001	Gout	60
462	P	GLY013	Glycogen Storage Disease	60
463	c	PRT132	Protoporphyria, Erythropoietic, 1	60
464	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
465	c	NNN010	Noonan Syndrome 3	59
466	P	CRN108	Cranioectodermal Dysplasia 1	59
467		PRP032	Porphyria Variegata	57
468		GDP001	Goodpasture Syndrome	56
469	P	PYL005	Pyelonephritis	56
470	P	HYP726	Hypercalcemia, Infantile, 1	55
471		CPR004	Coproporphyria, Hereditary	55
472	c	OST163	Osteopetrosis, Autosomal Recessive 3	55
473		PLV003	Pelvic Inflammatory Disease	55
474	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
475		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	54
476		RGH009	Right Atrial Isomerism	54
477	P	PRM002	Primary Hyperoxaluria	53
478	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	52
479	P	DBT005	Diabetes Insipidus	52
480	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
481	c	FNC042	Fanconi Anemia, Complementation Group D2	52
482		PRP082	Porphyria, Congenital Erythropoietic	52
483		HYP741	Hyperparathyroidism 2 with Jaw Tumors	52
484	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	51
485		CTY001	Cat Eye Syndrome	51
486	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
487		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	51
488	P	RNV001	Renovascular Hypertension	50
489		HYD002	Hydronephrosis	49
490	P	TYR004	Tyrosinemia	49
491		IDP073	Idiopathic Hypercalciuria	49
492	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
493	P	FNC044	Fanconi Anemia, Complementation Group C	49
494	c	NNN012	Noonan Syndrome 5	48
495	c	BRD044	Bardet-Biedl Syndrome 17	48
496		VTR016	Vater/vacterl Association	48
497	P	RPD001	Rapidly Progressive Glomerulonephritis	48
498	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	48
499		BCT004	Bacteriuria	48
500		LPP002	Lipoprotein Glomerulopathy	47
501		HYP347	Hypotonia-Cystinuria Syndrome	47
502		HRT031	Hartnup Disorder	47
503	c	ACT042	Acute Pyelonephritis	47
504	P	PSD003	Pseudohypoaldosteronism	47
505		CRS001	Crescentic Glomerulonephritis	45
506	P	PRL003	Proliferative Glomerulonephritis	45
507	c	GLY023	Glycogen Storage Disease Type 0	45
508	P	MYG005	Myoglobinuria	45
509	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
510	c	SYS043	Systemic Lupus Erythematosus 1	45
511	c	FNC047	Fanconi Anemia, Complementation Group Q	44
512	c	BRD033	Bardet-Biedl Syndrome 13	44
513	c	MCK012	Meckel Syndrome, Type 6	44
514	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
515	c	NNN009	Noonan Syndrome 2	44
516	c	FNC058	Fanconi Anemia, Complementation Group R	44
517		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	43
518	c	BRD048	Bardet-Biedl Syndrome 18	43
519		URT001	Urethritis	43
520	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	43
521	c	TYR011	Tyrosinemia, Type Iii	43
522	c	FNC056	Fanconi Anemia, Complementation Group V	42
523	c	FNC052	Fanconi Anemia, Complementation Group T	42
524		PRS042	Prostate Disease	42
525	P	XNT004	Xanthinuria	42
526	c	BRD035	Bardet-Biedl Syndrome 15	42
527	c	GLY098	Glycogen Storage Disease, Type Ixd	42
528	c	FNC025	Fanconi Anemia, Complementation Group J	41
529	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
530	c	FNC045	Fanconi Anemia, Complementation Group F	41
531	c	FNC029	Fanconi Anemia, Complementation Group I	41
532	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	41
533	c	CTR130	Cataract 9, Multiple Types	41
534	c	FNC057	Fanconi Anemia, Complementation Group U	41
535	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	41
536	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
537		HMR023	Hemorrhagic Cystitis	41
538		PDT035	Pediatric Systemic Lupus Erythematosus	40
539	c	FNC032	Fanconi Anemia, Complementation Group B	40
540	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	40
541		EPS026	Epispadias	40
542	c	NNN011	Noonan Syndrome 4	40
543	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	39
544		CLC011	Cloacal Exstrophy	39
545	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	39
546	c	TYP024	Type Ii Mixed Cryoglobulinemia	39
547	c	NNN013	Noonan Syndrome 6	39
548		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	39
549		HYP550	Hypomagnesemia 1, Intestinal	39
550	c	BRD032	Bardet-Biedl Syndrome 14	39
551	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
552	c	CTR118	Cataract 14, Multiple Types	39
553		URT016	Urethral Diverticulum	38
554	c	FNC023	Fanconi Anemia, Complementation Group N	38
555	c	CTR115	Cataract 16, Multiple Types	38
556		URT020	Ureterocele	38
557	c	CHR098	Chronic Pyelonephritis	38
558	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
559	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
560	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	38
561	c	FNC028	Fanconi Anemia, Complementation Group L	37
562	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	37
563	c	CTR170	Cataract 30, Multiple Types	37
564	P	ANT061	Antenatal Bartter Syndrome	37
565		ANT002	Anti-Basement Membrane Glomerulonephritis	37
566	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
567	c	MCK014	Meckel Syndrome, Type 5	37
568	c	CTR098	Cataract 1, Multiple Types	37
569	c	CNG188	Congenital Disorder of Glycosylation, Type if	36
570	c	NNN021	Noonan Syndrome 8	36
571	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	36
572	c	ATM045	Autoimmune Glomerulonephritis	36
573		INF159	Infantile Sialic Acid Storage Disease	36
574	c	BRD045	Bardet-Biedl Syndrome 19	36
575	c	NNN024	Noonan Syndrome 9	36
576		CYS003	Cystitis Cystica	35
577	c	CTR122	Cataract 5, Multiple Types	35
578	c	CNG379	Congenital Disorder of Glycosylation, Type It	35
579	c	AML020	Amelogenesis Imperfecta, Type Iv	35
580	c	MCK033	Meckel Syndrome, Type 4	35
581	c	FNC048	Fanconi Anemia, Complementation Group O	35
582	c	CHR020	Chronic Interstitial Cystitis	35
583	c	BRD047	Bardet-Biedl Syndrome 16	35
584	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	34
585	c	CTR174	Cataract 40	34
586	c	HRD142	Hereditary Xanthinuria	34
587	c	CTR103	Cataract 4, Multiple Types	34
588		URT014	Ureterolithiasis	34
589	c	CTR141	Cataract 21, Multiple Types	34
590		PYL004	Pyelitis	33
591	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
592		MTN001	Metanephric Adenoma	33
593		URT037	Urethral Stricture	33
594		KLL014	Kelley-Seegmiller Syndrome	33
595	c	MCK034	Meckel Syndrome, Type 8	33
596	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	33
597		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	33
598	c	PRP091	Porphyria Cutanea Tarda, Type I	33
599	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
600	c	AML057	Amelogenesis Imperfecta, Type Iiia	33
601		PRN007	Perinephritis	33
602	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	33
603	c	CTR125	Cataract 7	33
604	c	AML017	Amelogenesis Imperfecta, Type Ib	33
605		RDT001	Radiation Cystitis	32
606		XNT001	Xanthogranulomatous Pyelonephritis	32
607	c	CTR145	Cataract 44	32
608		OSC001	Oeis Complex	32
609	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
610	c	ACT079	Acute Proliferative Glomerulonephritis	31
611	c	CNG199	Congenital Disorder of Glycosylation, Type Im	31
612	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
613	c	NNN025	Noonan Syndrome 10	31
614	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	31
615	c	CTR158	Cataract 37	31
616	c	CRN109	Cranioectodermal Dysplasia 2	31
617		EXD002	Exudative Glomerulonephritis	30
618	c	GLY057	Glycogen Storage Disease X	30
619		DFF015	Diffuse Glomerulonephritis	30
620		TRG001	Trigonitis	30
621	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
622	c	RBN008	Rubinstein-Taybi Syndrome 2	29
623	c	GLY017	Glycogen Storage Disease Ic	29
624	c	NPH102	Nephrotic Syndrome, Type 14	29
625	c	CTR175	Cataract 24	29
626	c	NNN020	Noonan Syndrome 7	29
627	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	28
628		ACT040	Acute Poststreptococcal Glomerulonephritis	28
629	c	CTR121	Cataract 25	28
630	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
631		ORT001	Orthostatic Proteinuria	28
632	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	28
633	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
634	c	FNC062	Fanconi Anemia, Complementation Group S	28
635	c	CTR124	Cataract 10, Multiple Types	27
636	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
637	c	HYP603	Hyperoxaluria, Primary, Type Iii	27
638	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	27
639		PRT094	Protoporphyria, Erythropoietic, X-Linked	27
640		VCT005	Vacterl Association, X-Linked, with or Without Hydrocephalus	26
641		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	26
642	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
643	c	BRD050	Bardet-Biedl Syndrome 21	26
644	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
645		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	26
646		KDN013	Kidney Hypertrophy	26
647	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
648	c	CTR166	Cataract 33, Multiple Types	26
649		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	26
650	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
651	c	MCK028	Meckel Syndrome 13	26
652	c	SYS069	Systemic Lupus Erythematosus 6	25
653	c	GLY001	Glycogen Storage Disease Ix	25
654		VCT004	Vacterl Association with Hydrocephalus	25
655	c	MLG003	Malignant Renovascular Hypertension	25
656	c	MCK035	Meckel Syndrome, Type 10	25
657	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	24
658	c	BRD051	Bardet-Biedl Syndrome 20	24
659		SDH011	Sedoheptulokinase Deficiency	24
660	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
661		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	24
662	c	SYS066	Systemic Polyarteritis Nodosa	24
663	c	SYS038	Systemic Lupus Erythematosus 2	23
664		HYP481	Hyperbiliverdinemia	23
665	c	CTR180	Cataract 22, Multiple Types	23
666	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
667	c	CTR131	Cataract 17, Multiple Types	23
668	c	LDD008	Liddle Syndrome 2	23
669	P	ACR072	Acrorenal Syndrome	23
670	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	23
671	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	23
672		KDN009	Kidney Fibrosarcoma	22
673	c	CTR165	Cataract 19, Multiple Types	22
674	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	22
675	c	CTR184	Cataract 39, Multiple Types	22
676	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	22
677	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	22
678	c	MCK036	Meckel Syndrome, Type 9	22
679	c	FNC061	Fanconi Anemia, Complementation Group W	22
680	c	CTR116	Cataract 15, Multiple Types	22
681	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	21
682	c	SBC010	Subacute Glomerulonephritis	21
683	c	CTR182	Cataract 23, Multiple Types	21
684	c	AML047	Amelogenesis Imperfecta, Type Ia	21
685		MSC089	Mosaic Monosomy X	21
686	c	CTR105	Cataract 12, Multiple Types	21
687	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	21
688	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
689	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	21
690	c	CTR163	Cataract 46, Juvenile-Onset	21
691	c	CTR159	Cataract 35	21
692	c	SNR011	Senior-Loken Syndrome 3	21
693	c	SNR015	Senior-Loken Syndrome 8	21
694	c	MCK020	Meckel Syndrome, Type 11	21
695	c	HYP564	Hypocalcemia, Autosomal Dominant 2	20
696		FNC060	Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young	20
697	c	AML048	Amelogenesis Imperfecta, Type Ih	20
698	c	CTR183	Cataract 38	20
699	c	SNR004	Senior-Loken Syndrome 4	20
700	c	CTR097	Cataract 34, Multiple Types	20
701	c	SNR007	Senior-Loken Syndrome 7	20
702	c	TWN010	Townes-Brocks Syndrome 2	20
703	c	CTR111	Cataract 36	20
704	c	CTR136	Cataract 41	20
705	c	FCL055	Focal Segmental Glomerulosclerosis 9	20
706	c	CTR178	Cataract 27	20
707	c	PRM150	Primary Localized Amyloidosis	20
708		THY105	Thyrocerebroretinal Syndrome	19
709		HVY003	Heavy Chain Deposition Disease	19
710	c	SYS046	Systemic Lupus Erythematosus 3	19
711	c	PLY141	Polycystic Kidney Disease 5	19
712	c	FCL053	Focal Segmental Glomerulosclerosis 8	19
713	c	CTR139	Cataract 42	19
714	c	TRN053	Transient Pseudohypoaldosteronism	19
715	c	PSD068	Pseudohypoaldosteronism, Type Iic	19
716	c	CTR110	Cataract 26, Multiple Types	19
717	c	PSD094	Pseudohypoaldosteronism, Type Iib	18
718	c	ACQ034	Acquired Central Diabetes Insipidus	18
719	c	AHM002	Ah Amyloidosis	18
720	c	SNR006	Senior-Loken Syndrome 6	18
721	c	CTR106	Cataract 20, Multiple Types	18
722	c	HYP712	Hypercalcemia, Infantile, 2	18
723	c	CTR144	Cataract 43	18
724	c	SYS051	Systemic Lupus Erythematosus 4	18
725		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	18
726	c	CTR157	Cataract 28	18
727	c	CTR185	Cataract 30	18
728	c	CTR160	Cataract 45	18
729	c	HRD156	Hereditary Central Diabetes Insipidus	18
730	c	GLY093	Glycogen Storage Disease Ixa	17
731		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	17
732		XLN198	X-Linked Diffuse Leiomyomatosis-Alport Syndrome	17
733	c	CTR128	Cataract 33	17
734	c	SYS053	Systemic Lupus Erythematosus 5	17
735		ATR053	Atresia of Urethra	16
736	c	SYS040	Systemic Lupus Erythematosus 10	16
737		CRB162	Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula	16
738		CNG330	Congenital Megacalycosis	16
739	c	AML056	Amelogenesis Imperfecta, Type Iiib	16
740	c	SYS041	Systemic Lupus Erythematosus 9	15
741	c	SYS055	Systemic Lupus Erythematosus 12	15
742		IGG011	Igg4-Related Kidney Disease	15
743	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	15
744	c	PRT135	Protoporphyria, Erythropoietic, 2	15
745	c	SYS047	Systemic Lupus Erythematosus 7	15
746		PTN009	Patent Urachus	15
747	c	ACQ026	Acquired Pseudoxanthoma Elasticum	15
748	c	SYS065	Systemic Lupus Erythematosus 11	15
749	c	SRC024	Sarcoidosis 3	14
750	P	CNG326	Congenital Primary Megaureter	14
751		LGH014	Light and Heavy Chain Deposition Disease	14
752		GNR029	Generalized Galactose Epimerase Deficiency	14
753		CLL035	Collagen Type Iii Glomerulopathy	14
754	c	OLV006	Olivopontocerebellar Atrophy Ii, Autosomal Recessive	13
755	c	SYS052	Systemic Lupus Erythematosus 13	13
756	c	SYS048	Systemic Lupus Erythematosus 8	13
757	c	SYS045	Systemic Lupus Erythematosus 14	13
758		PHS019	Phosphohydroxylysinuria	13
759	c	MXD037	Mixed Cryoglobulinemia Type Iii	13
760		APV001	Aapoaiv Amyloidosis	12
761	c	SYS067	Systemic Lupus Erythematosus 15	12
762	P	ANT062	Anterior Urethral Valve	12
763		URC013	Urachal Diverticulum	12
764	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	12
765	c	PRM222	Primary Polyarteritis Nodosa	12
766	c	AML063	Amelogenesis Imperfecta Type 2a1	12
767		ACT041	Acute Diffuse Nephritis	11
768		KDN014	Kidney Leiomyosarcoma	11
769		ERY041	Erythrocyte Galactose Epimerase Deficiency	10
770		URC012	Urachal Sinus	10
771		PYL001	Pyeloureteritis Cystica	10
772		CHR082	Chromophil Adenoma of the Kidney	10
773		MGC005	Megacystis-Megaureter Syndrome	10
774	c	PLY176	Polycystic Kidney Disease 4	9
775	c	LDD009	Liddle Syndrome 3	9
776		ATY036	Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly	8
777		KDN005	Kidney Liposarcoma	8
778		MXD010	Mixed Epithelial Stromal Tumour	8
779		KDN003	Kidney Lipoma	8
780	c	SCN055	Secondary Polyarteritis Nodosa	8
781	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	8
782	P	JVN036	Juvenile Sialidosis Type 2	7
783	c	CNG348	Congenital Sialidosis Type 2	7
784		DCT001	Dioctophymiasis	7
785		SNG013	Single-Organ Polyarteritis Nodosa	7
786	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	7
787	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	6
788		MTC002	Metachronous Kidney Wilms' Tumor	6
789	c	CHR021	Chronic Rapidly Progressive Glomerulonephritis	5
790	c	BRN138	Branchiootorenal Spectrum Disorder	5
791	P	TYP005	Type 1 Papillary Adenoma of the Kidney	5
792	c	TYP006	Type 2 Papillary Adenoma of the Kidney	5
793		CNG331	Congenital Bilateral Megacalycosis	5
794		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	5
795		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
796		UNL009	Unilateral Congenital Megacalycosis	5
797	c	BNG028	Benign Renovascular Hypertension	4
798		NNC001	Non-Congenital Cyst of Kidney	4
799	c	PRM147	Primary Megaureter, Adult-Onset Form	4
800		BNG089	Benign Metanephric Tumour	4
801		STR004	Stricture or Kinking of Ureter	4
802		BLK002	Balkan Hemorrhagic Fever	4
803		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	4
804		CNG269	Congenital Primary Megaureter, Refluxing Form	4
805		CNG270	Congenital Primary Megaureter, Obstructed Form	4
806		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
807		ATH002	Atheroembolism of Kidney	3
808		FCL004	Focal Embolic Glomerulonephritis	3
809		RNL065	Renal Cell Carcinoma, Papillary, 1	71
810		RNL114	Renal Cell Carcinoma, Nonpapillary	62
811		CLR030	Clear Cell Renal Cell Carcinoma	49
812		CHR177	Chromophobe Renal Cell Carcinoma	55
813		RNL119	Renal Cell Carcinoma, Xp11-Associated	35
814	P	KDN017	Kidney Cancer	59
815	P	INT143	Interstitial Cystitis	66
816		BLD039	Bladder Adenocarcinoma	40
817		ALP046	Alport Syndrome, X-Linked	74
818		MLT165	Multilocular Cystic Renal Neoplasm of Low Malignant Potential	15
819		BLD064	Bladder Cancer, Childhood	6
820	c	ALM001	Al Amyloidosis	60
821	c	AMY009	Amyloidosis Aa	56
822	c	HRD039	Hereditary Amyloidosis	49
823		DNY001	Denys-Drash Syndrome	54
824		RNL011	Renal Osteodystrophy	49
825		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	35
826	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	18
827	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	14
828		NNN005	Non-Invasive Bladder Papillary Urothelial Neoplasm	26
829		NPH026	Nephrotic Syndrome, Idiopathic, Steroid-Resistant	11
830		BLD031	Bladder Signet Ring Cell Adenocarcinoma	11
831	P	BRN006	Branchiootorenal Syndrome	47
832		CYS045	Cystinosis, Adult Nonnephropathic	25
833		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	21
834		NPH023	Nephropathy, Deafness, and Hyperparathyroidism	20
835		BLD043	Bladder Clear Cell Adenocarcinoma	10
836		GTL001	Gitelman Syndrome	63
837		FNC009	Fanconi-Bickel Syndrome	55
838		RNL089	Renal Nutcracker Syndrome	22
839		RNL112	Renal, Genital, and Middle Ear Anomalies	17
840		INF029	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant	7
841	c	MCR129	Microvascular Complications of Diabetes 1	64
842	P	FCL005	Focal Segmental Glomerulosclerosis	60
843		NPH018	Nephrogenic Systemic Fibrosis	56
844	P	ALP074	Alport Syndrome, Autosomal Dominant	47
845		JBR006	Joubert Syndrome with Oculorenal Anomalies	42
846		FGN001	Feigenbaum Bergeron Richardson Syndrome	8
847		SLC010	Salcedo Syndrome	8
848		MYR002	Mayer-Rokitansky-Kuster-Hauser Syndrome	61
849		CRN239	Carnitine Deficiency, Systemic Primary	52
850		RHY001	Rhyns Syndrome	39
851		KDN007	Kidney Clear Cell Sarcoma	39
852		RNL004	Renal Pelvis Adenocarcinoma	30
853		ACR102	Acrorenal-Mandibular Syndrome	28
854		RNL009	Renal Pelvis Squamous Cell Carcinoma	17
855		DNM003	Daneman Davy Mancer Syndrome	11
856		STK001	Saito Kuba Tsuruta Syndrome	10
857	P	HYP802	Hypocalcemia, Autosomal Dominant 1	67
858		TRN018	Transitional Cell Carcinoma	62
859		CYS010	Cystinosis	55
860		MDL009	Medullary Sponge Kidney	48
861	c	HYP794	Hyperoxaluria, Primary, Type I	42
862		CHL010	Childhood Kidney Cell Carcinoma	41
863		SRC002	Sarcomatoid Renal Cell Carcinoma	40
864		DCR008	Dicarboxylic Aminoaciduria	38
865		MRC004	Murcs Association	32
866		MLT003	Multilocular Clear Cell Renal Cell Carcinoma	30
867	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	26
868		URM003	Uromodulin-Associated Kidney Disease	16
869		RNL032	Renal Caliceal Diverticuli Deafness	11
870		KDN008	Kidney Pelvis Papillary Carcinoma	9
871		KDN011	Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma	8
872		BLD014	Bladder Colonic Type Adenocarcinoma	7
873		BLD010	Bladder Colloid Adenocarcinoma	6
874		GRN023	Green Sandford Davison Syndrome	6
875		NPH025	Nephrotic Syndrome Ocular Anomalies	5
876		HST006	Histidinemia	45
877		STR094	Stromme Syndrome	32
878	c	TWN011	Townes-Brocks Syndrome 1	28
879		ARD001	Aredyld	25
880		HYP652	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	24
881	c	PLY168	Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease	66
882	P	PLY014	Polycystic Kidney Disease	63
883	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	62
884		LYS003	Lysinuric Protein Intolerance	53
885	c	XNT010	Xanthinuria, Type I	52
886		CYS019	Cystathioninuria	43
887	c	LTH008	Lethal Congenital Contracture Syndrome 2	43
888	c	LTH007	Lethal Congenital Contracture Syndrome 1	37
889		PLV001	Pelvic Lipomatosis	36
890	c	XNT011	Xanthinuria, Type Ii	35
891	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	34
892	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	29
893	P	PNT006	Pentosuria	24
894	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	24
895	c	ESS007	Essential Pentosuria	18
896		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	17
897		ELL004	Ellis Yale Winter Syndrome	8
898		SPT004	Septic Arthritis	61
899		HNT002	Hantavirus Pulmonary Syndrome	52
900		GLY014	Glycerol Kinase Deficiency	51
901	c	MLG074	Malignant Mesenchymoma	50
902		MSN001	Mesangial Proliferative Glomerulonephritis	48
903		LGH004	Light Chain Deposition Disease	47
904		RTR011	Retroperitoneal Fibrosis	44
905		SLR001	Sialuria	44
906		FRY002	Fryns Syndrome	43
907		URT051	Ureter, Cancer of	41
908		DFF021	Diffuse Mesangial Sclerosis	40
909	c	MYG007	Myoglobinuria, Recurrent	39
910	c	PLY171	Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease	36
911		MLK004	Malakoplakia	35
912		KDN019	Kidney Sarcoma	35
913	P	MSN006	Mesenchymoma	34
914		KDN002	Kidney Rhabdoid Cancer	34
915	c	HYP602	Hyperoxaluria, Primary, Type Ii	33
916		HWK001	Hawkinsinuria	30
917		HYD030	Hydroxykynureninuria	27
918		5XP001	5-Oxoprolinase Deficiency	26
919		CMB011	Combined Malonic and Methylmalonic Aciduria	25
920	c	BNG012	Benign Mesenchymoma	23
921		GLT014	Glutathionuria	23
922		HLZ001	Holzgreve Syndrome	21
923		MCR304	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs	21
924		VSC014	Vascular Hyalinosis	18
925		LBN003	Lubinsky Syndrome	18
926		HRS039	Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness	18
927		LNP001	Loin Pain Hematuria Syndrome	15
928		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
929		CHR645	Chromosome 8q12.1-Q21.2 Deletion Syndrome	14
930	c	ADL020	Adult Malignant Mesenchymoma	12
931		URT041	Urethral Obstruction Sequence	11
932		NNP009	Non-Papillary Transitional Cell Carcinoma of the Bladder	10
933	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	10
934		VCT003	Vacterl Hydrocephaly	9
935		BLD018	Bladder Hepatoid Adenocarcinoma	7
936		BLD021	Bladder Urachal Adenocarcinoma	7
937		SLG001	Selig Benacerraf Greene Syndrome	6
938		KRN006	Karandikar Maria Kamble Syndrome	6
939		ALS004	Alsing Syndrome	5
940		BLD016	Bladder Papillary Clear Cell Adenocarcinoma	5
941		BLD015	Bladder Tubulo-Cystic Clear Cell Adenocarcinoma	5
942		GLL001	Gall Bladder Carcinoma in Situ	5
943		BNR003	Ben Ari Shuper Mimouni Syndrome	5
944		RNL050	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna	5
945		FRS005	Fraser Jequier Chen Syndrome	5
946		BLD017	Bladder Mixed Adenocarcinoma	4
947		BLD020	Bladder Diffuse Clear Cell Adenocarcinoma	4
948		ALL011	Allain-Babin-Demarquez Syndrome	4
949		GRL001	Gorlin Bushkell Jensen Syndrome	4
950		LCH006	Lachiewicz Sibley Syndrome	4
951		BLL008	Billet Bear Syndrome	3
952		NPH022	Nephropathy Familial with Hyperuricemia	3
953		NPH020	Nephronophthisis Familial Adult Spastic Quadriparesis	3
954		TKY002	Takayasu Arteritis	67
955		ADL030	Adult-Onset Still's Disease	67
956	P	END044	Endometriosis	65
957		PRP083	Porphyria, Acute Intermittent	64
958	P	PLV020	Pelvic Organ Prolapse	63
959		QFV001	Q Fever	62
960	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	60
961	P	GLM007	Glomerulonephritis	60
962	P	PLY169	Polycystic Liver Disease 1 with or Without Kidney Cysts	59
963	c	FML116	Familial Cold Autoinflammatory Syndrome 1	59
964	P	CTR002	Cataract	58
965		NRM005	Neuromuscular Disease	58
966		MCR088	Microscopic Polyangiitis	58
967	P	PLY041	Polymyositis	58
968		GRN034	Grange Syndrome	55
969		CTR172	Citrullinemia, Classic	55
970	P	MGL001	Megaloblastic Anemia	54
971	c	PLY172	Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease	54
972	P	FML052	Familial Cold Autoinflammatory Syndrome	53
973	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	53
974	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	52
975	c	BRD012	Bardet-Biedl Syndrome 11	52
976	c	ACT071	Acute Kidney Failure	51
977	c	NPH055	Nephrotic Syndrome, Type 1	51
978		HMG002	Hemoglobinuria	51
979		MMB001	Membranoproliferative Glomerulonephritis	51
980	c	PST041	Posterior Urethral Valves	50
981		FSH001	Fish-Eye Disease	50
982	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	50
983		GLC106	Glucocorticoid Resistance, Generalized	47
984	c	AML044	Amelogenesis Imperfecta, Type Ig	45
985		GLC004	Galactokinase Deficiency	45
986	c	BRD011	Bardet-Biedl Syndrome 10	45
987	c	BRN108	Branchiootic Syndrome 1	45
988	c	BRD020	Bardet-Biedl Syndrome 8	44
989		CMP042	Complement Factor H Deficiency	44
990		TRC003	Trichomoniasis	43
991	c	BRT050	Bartter Syndrome, Type 2, Antenatal	43
992	c	MCK032	Meckel Syndrome, Type 3	43
993	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	42
994		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	42
995		IMM001	Immune-Complex Glomerulonephritis	42
996		VCT001	Vacterl Association	41
997	c	NPH030	Nephronophthisis 2	41
998	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	41
999	c	NPH053	Nephronophthisis 11	41
1000	c	BRD018	Bardet-Biedl Syndrome 6	41
1001		HYP236	Hyperbilirubinemia, Rotor Type	41
1002	c	FNC024	Fanconi Anemia, Complementation Group D1	41
1003	P	HYP733	Hypercalciuria, Absorptive, 2	40
1004	c	BRD017	Bardet-Biedl Syndrome 5	40
1005	c	NPH049	Nephrotic Syndrome, Type 2	40
1006	c	CTR129	Cataract 31, Multiple Types	40
1007	c	ADL027	Adult Dermatomyositis	39
1008		DNS007	Dense Deposit Disease	39
1009	c	NPH032	Nephronophthisis 4	38
1010		BTR002	Beta-Ureidopropionase Deficiency	38
1011	c	NPH031	Nephronophthisis 3	38
1012	c	GLY044	Glycogen Storage Disease Ixc	38
1013		PTT002	Potter's Syndrome	37
1014	P	BRN042	Branchiootic Syndrome	37
1015	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
1016	c	SYS061	Systemic Lupus Erythematosus 16	37
1017		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	37
1018	c	NPH035	Nephronophthisis 9	36
1019	c	GLY016	Glycogen Storage Disease Ib	36
1020		OMS001	Omsk Hemorrhagic Fever	36
1021	c	NPH068	Nephronophthisis 16	36
1022	c	SRC023	Sarcoidosis 2	36
1023		INT258	Interstitial Nephritis, Karyomegalic	35
1024	c	NPH033	Nephronophthisis 7	34
1025	c	NPH054	Nephrotic Syndrome, Type 3	34
1026	c	BRT052	Bartter Syndrome, Type 1, Antenatal	33
1027		TBS001	Tabes Dorsalis	33
1028	c	PSD090	Pseudohypoaldosteronism, Type Iia	32
1029	c	NPH065	Nephronophthisis 13	32
1030	c	NPH069	Nephronophthisis 15	32
1031		TBL025	Tubulointerstitial Nephritis with Uveitis	32
1032		PLY158	Polyglucosan Body Neuropathy, Adult Form	32
1033	c	NPH071	Nephronophthisis 14	31
1034	c	CTR102	Cataract 2, Multiple Types	31
1035	c	CTR096	Cataract 6, Multiple Types	30
1036	c	BRD019	Bardet-Biedl Syndrome 7	30
1037	c	INF147	Infantile Nephronophthisis	30
1038		PCM002	Pauci-Immune Glomerulonephritis	30
1039	c	ALG016	Alagille Syndrome 2	30
1040		MTH077	Methylmalonic Aciduria, Cbla Type	29
1041	c	CTR095	Cataract 8, Multiple Types	29
1042	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
1043	c	GLY043	Glycogen Storage Disease Xii	29
1044	c	FML253	Familial Cold Autoinflammatory Syndrome 3	29
1045	c	GLY097	Glycogen Storage Disease Ixb	29
1046	c	CTR132	Cataract 3, Multiple Types	28
1047		NRS001	Neuroschistosomiasis	28
1048	c	ORF046	Orofaciodigital Syndrome Xvi	28
1049		CTN019	Cutaneous Polyarteritis Nodosa	28
1050	c	GLY009	Glycogen Storage Disease Xv	28
1051	c	NPH047	Nephrotic Syndrome, Type 4	28
1052		VTM024	Vitamin B12-Responsive Methylmalonic Acidemia	27
1053		STN013	Stenotrophomonas Maltophilia Infection	27
1054		HYP648	Hypertension and Brachydactyly Syndrome	26
1055	c	PSD093	Pseudohypoaldosteronism, Type Iid	26
1056		FBR085	Fibrillary Glomerulonephritis	26
1057	c	BRD021	Bardet-Biedl Syndrome 9	26
1058	c	ORF051	Orofaciodigital Syndrome Xvii	25
1059	c	CTR169	Cataract 29	25
1060		HYP344	Hyperthyroidism, Familial Gestational	24
1061	c	JVN019	Juvenile Temporal Arteritis	24
1062	c	OST106	Osteopetrosis, Autosomal Recessive 8	24
1063	c	ORF045	Orofaciodigital Syndrome Xv	24
1064	c	CTR181	Cataract 18	24
1065	c	MCK026	Meckel Syndrome 12	24
1066	c	ORF052	Orofaciodigital Syndrome Xviii	24
1067		NNM007	Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis	24
1068		ATM086	Autoimmune Interstitial Lung, Joint, and Kidney Disease	23
1069		AXL004	Axial Mesodermal Dysplasia Spectrum	23
1070		CMB084	Combined Oxidative Phosphorylation Deficiency 34	23
1071		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	23
1072	c	CTR119	Cataract 32, Multiple Types	23
1073	c	CTR162	Cataract 47	22
1074	c	NPH073	Nephrotic Syndrome, Type 8	22
1075		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	22
1076	c	NPH067	Nephronophthisis 12	22
1077	c	FML270	Familial Cold Autoinflammatory Syndrome 4	22
1078	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	22
1079		URM001	Uremic Neuropathy	22
1080		FCC002	Faciocardiorenal Syndrome	22
1081	c	HYP708	Hyperaldosteronism, Familial, Type Iv	22
1082	c	NPH074	Nephrotic Syndrome, Type 9	21
1083	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	21
1084		DPL007	Duplication of Urethra	21
1085		INF164	Infantile Bartter Syndrome with Sensorineural Deafness	21
1086	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	21
1087	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	20
1088	c	NPH103	Nephrotic Syndrome, Type 15	20
1089	c	OST171	Osteopetrosis, Autosomal Dominant 3	20
1090	c	JVN046	Juvenile Polymyositis	20
1091	c	NPH096	Nephrotic Syndrome, Type 12	20
1092	c	NPH095	Nephrotic Syndrome, Type 11	20
1093	c	NPH086	Nephronophthisis 20	19
1094		ESN013	Eosinophilic Cystitis	19
1095	c	NPH104	Nephrotic Syndrome, Type 16	18
1096		DYS180	Dyschondrosteosis and Nephritis	18
1097	c	PLY177	Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease	18
1098	c	NPH076	Nephrotic Syndrome, Type 10	18
1099		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
1100	c	END071	Endometriosis 1	17
1101	c	PLY173	Polycystic Liver Disease 2 with or Without Kidney Cysts	17
1102	c	NPH093	Nephrotic Syndrome, Type 13	17
1103	c	CTR025	Cataract, Total Congenital	17
1104	c	ORF039	Orofaciodigital Syndrome Vii	16
1105		VLN001	Valinemia	16
1106	c	PLY175	Polycystic Liver Disease 4 with or Without Kidney Cysts	15
1107		INF059	Infundibulopelvic Dysgenesis	15
1108	c	OLV005	Olivopontocerebellar Atrophy V	14
1109		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	14
1110	c	LTN020	Late-Onset Nephronophthisis	14
1111	c	PLY174	Polycystic Liver Disease 3 with or Without Kidney Cysts	14
1112		MGL007	Megalocytic Interstitial Nephritis	14
1113		CRN057	Carnitine Palmitoyltransferase I Deficiency , Muscle	13
1114	c	RNL016	Renal Infectious Disease	12
1115	c	PLV014	Pelvic Organ Prolapse 2	12
1116	c	HYP809	Hypercalciuria, Absorptive, 1	10
1117	c	CLC009	Clcn7-Related Osteopetrosis	10
1118		PCM003	Pauci-Immune Glomerulonephritis Without Anca	9
1119		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	9
1120	c	CTR008	Cataract Congenital Autosomal Dominant	8
1121		ACQ046	Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome	8
1122		GLB017	Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome	8
1123		URT019	Urethral Gland Abscess	8
1124		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1125	c	ACR048	Acrorenal Syndrome Recessive	7
1126		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	6
1127		ACT215	Actg2-Related Disorders	5
1128		PCM004	Pauci-Immune Glomerulonephritis with Anca	5
1129	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
1130		AMY082	Amyloidosis, Familial Visceral	50
1131		CLL002	Collecting Duct Carcinoma	45
1132		SCH016	Schimke Immunoosseous Dysplasia	50
1133	P	MLN066	Melanoma, Cutaneous Malignant 1	66
1134	c	MLN043	Melanoma, Cutaneous Malignant 8	34
1135	c	MLN067	Melanoma, Cutaneous Malignant 2	20
1136	c	MLN075	Melanoma, Cutaneous Malignant 3	20
1137	c	MLN077	Melanoma, Cutaneous Malignant 9	18
1138	c	MLN055	Melanoma, Cutaneous Malignant 10	17
1139	c	MLN076	Melanoma, Cutaneous Malignant 5	16
1140	c	MLN042	Melanoma, Cutaneous Malignant 6	15
1141	c	MLN074	Melanoma, Cutaneous Malignant 4	15
1142	c	MLN040	Melanoma, Cutaneous Malignant 7	14
1143		VSC044	Visceral Myopathy	56
1144	P	TWN003	Townes-Brocks Syndrome	55
1145		MCK007	Muckle-Wells Syndrome	62
1146		ALK013	Alkaptonuria	58
1147	P	HML001	Hemolytic-Uremic Syndrome	53
1148		HPT014	Hepatorenal Syndrome	50
1149	c	ALP073	Alport Syndrome, Autosomal Recessive	49
1150		DNR002	Duane-Radial Ray Syndrome	46
1151	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	33
1152	c	GLM014	Glomerulopathy with Fibronectin Deposits 1	20
1153		DBT087	Diabetes Insipidus, Neurohypophyseal	62
1154		AMN007	Aminoacylase 1 Deficiency	37
1155		SCL046	Scalp-Ear-Nipple Syndrome	36
1156		FTZ004	Fitzsimmons Walson Mellor Syndrome	8
1157		MLT157	Multiple System Atrophy 1	74
1158	P	PLY170	Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease	62
1159	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	60
1160		BRT002	Birt-Hogg-Dube Syndrome	56
1161		DNN002	Donnai-Barrow Syndrome	55
1162	P	EMB005	Embryonal Rhabdomyosarcoma	53
1163		3MC003	3mc Syndrome	49
1164	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1165	P	AMY084	Amyloidosis, Finnish Type	45
1166	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	36
1167		ADL060	Adult Polyglucosan Body Disease	32
1168		HYP139	Hypotrichosis-Lymphedema-Telangiectasia Syndrome	30
1169		MLL009	Mullerian Aplasia	26
1170		MLL022	Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly	25
1171	c	FML249	Familial Amyloidosis, Finnish Type	22
1172	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	16
1173	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	16
1174		KDN010	Kidney Osteogenic Sarcoma	13
1175	c	RNL034	Renal Cell Carcinoma 4	13
1176		SNT001	Santos Mateus Leal Syndrome	9
1177	c	RNL033	Renal Carcinoma, Familial	6
1178	P	LVR013	Liver Disease	75
1179		SCK003	Sickle Cell Anemia	72
1180	P	FML018	Familial Mediterranean Fever	72
1181	c	NRF024	Neurofibromatosis, Type I	68
1182	c	SCL052	Scleroderma, Familial Progressive	68
1183	P	CNG411	Congenital Disorder of Glycosylation, Type in	66
1184		GLC006	Galactosemia	66
1185	P	BRD002	Bardet-Biedl Syndrome	64
1186	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	64
1187	c	LCL006	Localized Scleroderma	63
1188		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	63
1189	P	OST001	Osteopetrosis	62
1190		DGR001	Digeorge Syndrome	62
1191	c	3MT016	3-Methylglutaconic Aciduria, Type Iii	62
1192	c	BRD014	Bardet-Biedl Syndrome 2	61
1193		FCT007	Factor Vii Deficiency	61
1194	c	GLY060	Glycogen Storage Disease Ia	61
1195	c	ALP101	Alpha-Thalassemia	60
1196		NRM019	Neuraminidase Deficiency	60
1197	c	ORF040	Orofaciodigital Syndrome Viii	60
1198		CHL028	Childhood Type Dermatomyositis	59
1199		ELL001	Ellis-Van Creveld Syndrome	59
1200	P	BCK002	Beckwith-Wiedemann Syndrome	59
1201	c	BRD010	Bardet-Biedl Syndrome 1	59
1202	P	SHR029	Short Syndrome	59
1203		DBN001	Dubin-Johnson Syndrome	58
1204	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	57
1205	c	INF145	Infantile Liver Failure Syndrome 1	57
1206	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
1207		RLP001	Relapsing Polychondritis	56
1208	P	NPH005	Nephronophthisis	56
1209		NLP001	Nail-Patella Syndrome	55
1210		APP015	Apparent Mineralocorticoid Excess	55
1211	c	GLY004	Glycogen Storage Disease V	55
1212	P	FNC043	Fanconi Anemia, Complementation Group E	54
1213	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	54
1214		PTS001	Patau Syndrome	54
1215	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1216	c	ACT134	Acute Liver Failure	53
1217	P	PLY017	Polyarteritis Nodosa	52
1218		MYL003	Myeloid Sarcoma	52
1219	c	RBN021	Rubinstein-Taybi Syndrome 1	51
1220		LMT001	Limited Scleroderma	51
1221	c	GLY011	Glycogen Storage Disease Vii	51
1222		CNN011	Cenani-Lenz Syndactyly Syndrome	51
1223		HYD061	Hydrocephalus, Normal-Pressure	50
1224		DFF035	Diffuse Cutaneous Systemic Sclerosis	50
1225	c	GLY005	Glycogen Storage Disease Vi	49
1226	P	ORF001	Orofaciodigital Syndrome	48
1227		PRP056	Porphyria, Acute Hepatic	48
1228	P	SLL003	Salla Disease	48
1229		MTH078	Methylmalonic Aciduria, Cblb Type	47
1230		ALP077	Alpha-Methylacetoacetic Aciduria	47
1231	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	47
1232	c	BRD016	Bardet-Biedl Syndrome 4	47
1233		ONC003	Oncogenic Osteomalacia	46
1234		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	46
1235	c	ORF034	Orofaciodigital Syndrome Vi	46
1236		CDQ001	Cauda Equina Syndrome	44
1237	P	HRD086	Hereditary Hypophosphatemic Rickets	44
1238	c	BRT042	Bartter Syndrome, Type 3	43
1239	c	SHR030	Short Qt Syndrome	43
1240	c	NPH019	Nephronophthisis 1	43
1241	c	L2H001	L-2-Hydroxyglutaric Aciduria	42
1242	c	FML015	Familial Nephrotic Syndrome	41
1243	c	PSD092	Pseudohypoaldosteronism, Type Iie	41
1244	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	39
1245	c	FNC046	Fanconi Anemia, Complementation Group P	39
1246	P	2HY001	2-Hydroxyglutaric Aciduria	39
1247	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
1248	P	FML156	Familial Hyperaldosteronism	37
1249	c	NPH070	Nephrotic Syndrome, Type 6	36
1250	c	JVN041	Juvenile Nephronophthisis	36
1251	c	FML294	Familial Short Qt Syndrome	35
1252		TRL002	Tarlov Cysts	35
1253		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	35
1254		HYP193	Hypocomplementemic Urticarial Vasculitis	35
1255	c	ORF035	Orofaciodigital Syndrome Iv	35
1256	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	35
1257		MLT073	Multisystemic Smooth Muscle Dysfunction Syndrome	34
1258	P	RNL059	Renal-Hepatic-Pancreatic Dysplasia	34
1259	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
1260		PDN001	Pudendal Neuralgia	32
1261	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	32
1262	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	31
1263		MCP039	Mucoepithelial Dysplasia, Hereditary	31
1264		IDP085	Idiopathic Infantile Hypercalcemia	30
1265	c	FML324	Familial Porphyria Cutanea Tarda	30
1266	c	ORF043	Orofaciodigital Syndrome Ix	29
1267		HMC033	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	29
1268	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	29
1269	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	29
1270		BLB005	Beaulieu-Boycott-Innes Syndrome	28
1271	c	ORF033	Orofaciodigital Syndrome V	28
1272		FRC005	Fructosuria, Essential	28
1273		VRH001	Verheij Syndrome	27
1274	c	LVR030	Liver Failure, Infantile, Transient	27
1275	c	OST125	Osteopetrosis, Autosomal Dominant 1	26
1276	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	26
1277	c	ORF038	Orofaciodigital Syndrome Iii	26
1278	c	CTR113	Cataract 11, Multiple Types	25
1279		3HY001	3-Hydroxyisobutyric Aciduria	25
1280	c	ORF036	Orofaciodigital Syndrome Xiv	25
1281	c	PSD047	Pseudo-Turner Syndrome	25
1282		URC004	Urachal Cancer	25
1283		IMM053	Immunotactoid Glomerulopathy	24
1284	c	ORF041	Orofaciodigital Syndrome X	24
1285	c	GLY059	Glycogen Storage Disease Xiii	23
1286	c	SHR031	Short Qt Syndrome 1	23
1287	c	SHR032	Short Qt Syndrome 2	23
1288	c	INF138	Infantile Liver Failure Syndrome 2	22
1289		NRF010	Neurofaciodigitorenal Syndrome	22
1290	c	SHR033	Short Qt Syndrome 3	21
1291	c	GLY006	Glycogen Storage Disease Viii	20
1292	c	ORF006	Orofaciodigital Syndrome 13	15
1293	c	ORF005	Orofaciodigital Syndrome 12	15
1294		GRH002	Graham Boyle Troxell Syndrome	15
1295	c	INT094	Intermediate Severe Salla Disease	10
1296		CNT103	Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	5
1297		VSC006	Vascular Cancer	51
1298		HRD031	Hereditary Paraganglioma-Pheochromocytoma Syndromes	46
1299	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
1300		ADR054	Adrenocortical Carcinoma, Hereditary	73
1301	c	TBR025	Tuberous Sclerosis 1	72
1302	c	BTT014	Beta-Thalassemia	71
1303		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	70
1304		WLS001	Wilson Disease	70
1305	P	DRM010	Dermatomyositis	66
1306		MXD005	Mixed Connective Tissue Disease	65
1307		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	64
1308	P	MCH002	Machado-Joseph Disease	64
1309		BRG013	Buerger Disease	61
1310		FRC011	Fructose Intolerance, Hereditary	60
1311	c	GLY003	Glycogen Storage Disease Iii	59
1312	c	HYP731	Hyperaldosteronism, Familial, Type I	58
1313	P	RHB008	Rhabdoid Tumor Predisposition Syndrome 1	57
1314	P	LDD007	Liddle Syndrome 1	56
1315	P	CRY007	Cryoglobulinemia, Familial Mixed	56
1316		ALS001	Alstrom Syndrome	55
1317		ESN020	Eosinophilic Granulomatosis with Polyangiitis	54
1318	P	TRN034	Transverse Myelitis	53
1319		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	53
1320	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
1321	P	BRT004	Bartter Disease	53
1322	c	ORF037	Orofaciodigital Syndrome I	53
1323	P	OLV001	Olivopontocerebellar Atrophy	53
1324	c	OST131	Osteopetrosis, Autosomal Dominant 2	53
1325		PSD014	Pseudopseudohypoparathyroidism	51
1326	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
1327	c	BRD013	Bardet-Biedl Syndrome 12	49
1328		INS023	Insensitivity to Pain, Congenital, with Anhidrosis	48
1329		RYN003	Reynolds Syndrome	47
1330	c	OST129	Osteopetrosis, Autosomal Recessive 2	47
1331		GLT007	Glutathione Synthetase Deficiency	45
1332	c	TYR013	Tyrosinemia, Type Ii	45
1333	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	44
1334		ARC002	Arachnoiditis	44
1335	c	ACT159	Acute Transverse Myelitis	44
1336	c	OST136	Osteopetrosis, Autosomal Recessive 7	44
1337		PRM237	Primary Hypomagnesemia	40
1338	c	MCK031	Meckel Syndrome, Type 2	39
1339		IMM073	Immunoglobulin a Vasculitis	36
1340	c	OST134	Osteopetrosis, Autosomal Recessive 6	35
1341	P	BTR001	Botryoid Rhabdomyosarcoma	35
1342		MLN011	Malonyl-Coa Decarboxylase Deficiency	33
1343	c	HYP600	Hyperaldosteronism, Familial, Type Ii	31
1344		HYP249	Hyperthyroidism, Nonautoimmune	31
1345	c	HYP438	Hyperaldosteronism, Familial, Type Iii	29
1346	c	OST137	Osteopetrosis, Autosomal Recessive 4	27
1347	c	ORF042	Orofaciodigital Syndrome Xi	25
1348		OCL043	Oculorenocerebellar Syndrome	21
1349	c	RHB011	Rhabdoid Tumor Predisposition Syndrome 2	18
1350	c	MCH014	Machado-Joseph Disease Type 2	9
1351	c	MCH012	Machado-Joseph Disease Type 1	9
1352	c	MCH013	Machado-Joseph Disease Type 3	9
1353	c	ADL031	Adult Botryoid Rhabdomyosarcoma	6
1354	c	SCN040	Secondary Acute Transverse Myelitis	6
1355	P	LYN001	Lynch Syndrome	71
1356	P	TBR001	Tuberous Sclerosis	69
1357	P	PRP003	Porphyria Cutanea Tarda	67
1358		PRT010	Parathyroid Carcinoma	64
1359	P	PLR004	Pleuropulmonary Blastoma	61
1360		RHB001	Rhabdoid Cancer	60
1361	c	LYN004	Lynch Syndrome I	58
1362	c	GLY007	Glycogen Storage Disease Iv	53
1363	P	PSD015	Pseudohypoparathyroidism	50
1364	c	MGL018	Megaloblastic Anemia 1	47
1365	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
1366		GLC011	Galactose Epimerase Deficiency	45
1367	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	44
1368	c	BRD015	Bardet-Biedl Syndrome 3	43
1369	c	PSD117	Pseudohypoparathyroidism, Type Ic	37
1370	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
1371	c	BRT024	Bartter Syndrome Type 4	21
1372	c	PLR018	Pleuropulmonary Blastoma Type 1	10
1373	P	RBN007	Rubinstein Taybi Like Syndrome	9
1374	c	PLR019	Pleuropulmonary Blastoma Type 2	8
1375	c	PLR020	Pleuropulmonary Blastoma Type 3	8
1376	c	TYR012	Tyrosinemia, Type I	54
1377	P	THR005	Thrombotic Thrombocytopenic Purpura	64
1378	c	RNR002	Ren-Related Kidney Disease	10