Nephrological Diseases Category (1917 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	BLD134	Bladder Cancer	78
2	P	MPL001	Maple Syrup Urine Disease	69
3		NPH098	Nephrolithiasis, X-Linked Recessive, with Renal Failure	36
4		NRG002	Neurogenic Bladder	54
5	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	39
6	c	MCR113	Microvascular Complications of Diabetes 3	52
7	P	IGN003	Iga Nephropathy 1	49
8		BLD131	Bladder Urothelial Carcinoma	61
9		RNL051	Renal Cysts and Diabetes Syndrome	55
10		DBT092	Diabetes Insipidus, Nephrogenic, X-Linked	38
11	c	CNG509	Congenital Anomalies of Kidney and Urinary Tract 1	29
12	P	CNG499	Congenital Anomalies of Kidney and Urinary Tract 2	49
13	P	HYP658	Hypoplastic Amelogenesis Imperfecta	25
14	c	AML006	Amelogenesis Imperfecta Hypoplastic Type, Ig	21
15		BLD029	Bladder Dome Cancer	9
16		SML031	Small Cell Carcinoma of the Bladder	46
17		CNG116	Congenital Nephrotic Syndrome Finnish Type	19
18		SPR001	Superficial Urinary Bladder Cancer	22
19		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	45
20		LWC001	Low Compliance Bladder	42
21		BLD049	Bladder Transitional Cell Papilloma	34
22		NPH002	Nephrogenic Adenoma of Urinary Bladder	25
23		URN001	Urinary Bladder Small Cell Neuroendocrine Carcinoma	22
24		BLD026	Bladder Trigone Cancer	6
25		BLD047	Bladder Squamous Cell Carcinoma	30
26	c	BLD008	Bladder Carcinoma in Situ	30
27		URN022	Urinary Tract Infections, Recurrent	26
28		PRT121	Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis	24
29		URN005	Urinary Bladder Villous Adenoma	24
30		SLC024	Slc4a1-Associated Distal Renal Tubular Acidosis	19
31		BNR003	Ben Ari Shuper Mimouni Syndrome	7
32		JWT001	Jewett-Marshall Bladder Cancer	6
33		URN003	Urinary Schistosomiasis	44
34		DHY010	Dihydrolipoamide Dehydrogenase Deficiency	44
35	c	MCR112	Microvascular Complications of Diabetes 2	41
36		BLD025	Bladder Sarcoma	29
37		RNL094	Renal Dysplasia, Cystic	36
38		TRT015	Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia	21
39		GTR012	Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies	18
40		URN011	Urinary Tract Papillary Transitional Cell Benign Neoplasm	29
41		BLD003	Bladder Lateral Wall Cancer	24
42	c	BKV001	Bk-Virus Nephropathy	23
43		BLD046	Bladder Papillary Transitional Cell Neoplasm	23
44		URN004	Urinary Bladder Inverted Papilloma	22
45		BLD169	Bladder Dysfunction, Autonomic, with Impaired Pupillary Reflex and Secondary Cakut	15
46		OBS860	Obsolete: Familial Juvenile Hyperuricemic Nephropathy Type 1	13
47		SPH021	Sphingosine Phosphate Lyase Insufficiency Syndrome	12
48		BLD027	Bladder Neck Cancer	6
49	c	URN006	Urinary Bladder Posterior Wall Cancer	5
50	P	URN007	Urinary Bladder Anterior Wall Cancer	5
51	c	MCR120	Microvascular Complications of Diabetes 7	47
52	c	MCR133	Microvascular Complications of Diabetes 4	41
53	c	MCR130	Microvascular Complications of Diabetes 6	41
54		NPH037	Nephronophthisis-Like Nephropathy 1	33
55		CYS010	Cystinosis	60
56		DCR008	Dicarboxylic Aminoaciduria	44
57		CYS045	Cystinosis, Adult Nonnephropathic	30
58		BLD023	Bladder Leiomyoma	27
59		CNG495	Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay	26
60		NPH023	Nephropathy, Deafness, and Hyperparathyroidism	18
61		RNL097	Renal Artery Disease	43
62		HNM002	Hinman Syndrome	29
63		BLD028	Bladder Lymphoma	27
64		RNL008	Renal Artery Atheroma	26
65		BLD065	Blue Diaper Syndrome	20
66		RDL030	Radial-Renal Syndrome	18
67		BRC111	Brachymesomelia-Renal Syndrome	15
68		BLD022	Bladder Flat Intraepithelial Lesion	6
69		NPH018	Nephrogenic Systemic Fibrosis	50
70		IMN001	Iminoglycinuria	45
71	P	FNC026	Fanconi Renotubular Syndrome 1	36
72	c	IGN004	Iga Nephropathy 3	25
73	c	FNC034	Fanconi Renotubular Syndrome 2	19
74	c	FNC049	Fanconi Renotubular Syndrome 3	19
75	c	PRG011	Progressive Myoclonus Epilepsy	42
76		HYP348	Hyperglycinuria	41
77	P	MYC026	Myoclonus Epilepsy	35
78		PNT006	Pentosuria	28
79		ACR102	Acrorenal-Mandibular Syndrome	28
80		BTM003	Beta-Aminoisobutyric Aciduria	20
81	c	PRG145	Progressive Myoclonus Epilepsy 6	14
82	c	PRG140	Progressive Myoclonus Epilepsy 4	12
83	c	PRG143	Progressive Myoclonus Epilepsy 7	11
84	c	PRG148	Progressive Myoclonus Epilepsy 1a	11
85	c	PRG141	Progressive Myoclonus Epilepsy 10	10
86	c	PRG142	Progressive Myoclonus Epilepsy 3	9
87	c	PRG146	Progressive Myoclonus Epilepsy 9	9
88	c	PRG147	Progressive Myoclonus Epilepsy 8	7
89	c	PRG144	Progressive Myoclonus Epilepsy 1b	7
90	P	GLL020	Gallbladder Disease	58
91		URN010	Urinary Tract Obstruction	57
92	c	GLL024	Gallbladder Disease 1	52
93		HYP114	Hypertensive Nephropathy	34
94		RNL013	Renal Adenoma	31
95	c	GLL027	Gallbladder Disease 4	27
96		WBB001	Webb-Dattani Syndrome	23
97		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	23
98	c	IGN002	Iga Nephropathy 2	19
99		DBL008	Double Uterus-Hemivagina-Renal Agenesis	17
100		ERY007	Erythropoietin Polycythemia	15
101		HST019	Histidinuria Due to a Renal Tubular Defect	15
102		BLR029	Biliary Malformation with Renal Tubular Insufficiency	14
103	c	GLL026	Gallbladder Disease 3	13
104		PLY043	Polyomavirus Allograft Nephropathy	13
105	c	GLL025	Gallbladder Disease 2	12
106		BTM002	Beta-Amino Acids, Renal Transport of	12
107		RNL036	Renal Dysplasia Diffuse Cystic	12
108		NPH025	Nephrotic Syndrome Ocular Anomalies	8
109		OBS665	Obsolete: Shy-Drager Syndrome	7
110		GRN023	Green Sandford Davison Syndrome	7
111		STN004	Stone in Bladder Diverticulum	6
112		HST012	Histidinuria Renal Tubular Defect	6
113		INB002	Inborn Renal Aminoaciduria	6
114		RNL121	Renal Tubular Acidosis, Distal, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies	5
115		BLD011	Bladder Verrucous Squamous Cell Carcinoma	5
116		CLR016	Clear Cell Variant Infiltrating Bladder Urothelial Carcinoma	5
117		BLD012	Bladder Urothelial Papillary Carcinoma	5
118		NST001	Nested Variant Infiltrating Bladder Urothelial Carcinoma	5
119		MCR008	Microcystic Variant Infiltrating Bladder Urothelial Carcinoma	5
120		NNT002	Neonatal Urinary Tract Infectious Disease	5
121		RDR001	Radio Renal Syndrome	4
122		NNR001	Non-Renal Secondary Hyperparathyroidism	4
123	P	OBS900	Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	4
124		OBS907	Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis	4
125		GNT076	Genetic Renal or Urinary Tract Malformation	2
126		GNT143	Genetic Non-Syndromic Renal or Urinary Tract Malformation	2
127	P	MCR115	Microvascular Complications of Diabetes 5	66
128		HST006	Histidinemia	47
129		MTC085	Mitochondrial Complex Iii Deficiency, Nuclear Type 1	44
130		URT031	Ureteral Disease	42
131		RTR011	Retroperitoneal Fibrosis	40
132		BLD040	Bladder Benign Neoplasm	29
133	P	VRT014	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1	22
134	P	C1Q005	C1q Nephropathy	22
135		MDF002	Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis	22
136	c	VRT015	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2	19
137		LKN027	Leukoencephalopathy, Acute Reversible, with Increased Urinary Alpha-Ketoglutarate	18
138		MPL011	Maple Syrup Urine Disease, Mild Variant	17
139	c	CNG540	Congenital Anomalies of Kidney and Urinary Tract 3	16
140		ACT006	Acute Gonococcal Cystitis	10
141	c	LTH007	Lethal Congenital Contracture Syndrome 1	51
142		CYS019	Cystathioninuria	45
143		VCT001	Vacterl Association	44
144	P	LTH003	Lethal Congenital Contracture Syndrome	42
145		PYR004	Pyuria	39
146	c	LTH008	Lethal Congenital Contracture Syndrome 2	36
147		PLV001	Pelvic Lipomatosis	35
148		CMB011	Combined Malonic and Methylmalonic Aciduria	35
149		HWK001	Hawkinsinuria	35
150		CLC011	Cloacal Exstrophy	35
151	c	LTH047	Lethal Congenital Contracture Syndrome 3	27
152		GLT014	Glutathionuria	26
153		BRN121	Branchiootorenal/branchiootic Syndrome	25
154	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
155	c	LTH039	Lethal Congenital Contracture Syndrome 11	24
156	c	LTH032	Lethal Congenital Contracture Syndrome 7	24
157	c	LTH027	Lethal Congenital Contracture Syndrome 5	24
158	c	LTH029	Lethal Congenital Contracture Syndrome 9	24
159	c	LTH042	Lethal Congenital Contracture Syndrome 10	22
160	c	LTH031	Lethal Congenital Contracture Syndrome 6	22
161	c	LTH026	Lethal Congenital Contracture Syndrome 4	21
162		STR095	Structural Heart Defects and Renal Anomalies Syndrome	19
163		ELL004	Ellis Yale Winter Syndrome	7
164		LCH006	Lachiewicz Sibley Syndrome	6
165	P	CTS001	Cutis Laxa	62
166		QFV001	Q Fever	58
167		SPT004	Septic Arthritis	57
168	P	HYP726	Hypercalcemia, Infantile, 1	57
169	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	54
170		INV006	Inverted Papilloma	52
171	c	CTS045	Cutis Laxa, Autosomal Dominant 1	51
172	c	3MT015	3-Methylglutaconic Aciduria, Type I	51
173		PRS129	Prostatic Hyperplasia, Benign	49
174	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	48
175		HNT002	Hantavirus Pulmonary Syndrome	47
176	c	3MT014	3-Methylglutaconic Aciduria, Type V	45
177	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	44
178	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	44
179	c	ATS393	Autosomal Recessive Cutis Laxa Type I	43
180	c	ORT011	Orthostatic Hypotension 1	43
181	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	43
182	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	42
183		DFF021	Diffuse Mesangial Sclerosis	42
184	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	42
185	c	3MT024	3-Methylglutaconic Aciduria, Type Vii	41
186	c	MLG074	Malignant Mesenchymoma	39
187		HMR023	Hemorrhagic Cystitis	38
188	c	CTS041	Cutis Laxa, Autosomal Dominant 3	38
189	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	37
190	P	MSN006	Mesenchymoma	36
191	c	3MT019	3-Methylglutaconic Aciduria, Type Iv	36
192	c	MYG007	Myoglobinuria, Recurrent	36
193	c	3MT007	3-Methylglutaconic Aciduria	36
194	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	36
195		HLZ001	Holzgreve Syndrome	34
196		TFR002	Tafro Syndrome	33
197		RNL001	Renal Artery Obstruction	33
198		MLK004	Malakoplakia	33
199		FML031	Female Stress Incontinence	32
200	c	CTS031	Cutis Laxa, Autosomal Dominant 2	30
201		HMR046	Hemorrhagic Fever-Renal Syndrome	30
202		5XP001	5-Oxoprolinase Deficiency	29
203	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
204		CYS003	Cystitis Cystica	29
205	c	BNG012	Benign Mesenchymoma	28
206	c	ORT012	Orthostatic Hypotension 2	27
207	c	3MT021	3-Methylglutaconic Aciduria, Type Viii	27
208		LMB076	Lumbar Syndrome	26
209	c	ACQ027	Acquired Cutis Laxa	26
210	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
211	P	PRM227	Primary Orthostatic Hypotension	25
212		HYP683	Hypogonadism-Cataract Syndrome	24
213	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	24
214	c	LTB003	Ltbp4-Related Cutis Laxa	24
215		LMY010	Leiomyomatosis, Diffuse, with Alport Syndrome	24
216	c	INT262	Intermediate Maple Syrup Urine Disease	24
217	c	3MT023	3-Methylglutaconic Aciduria, Type Ix	23
218	c	EFM001	Efemp2-Related Cutis Laxa	23
219	P	RTN220	Retinal Ciliopathy	23
220	c	ATP003	Atp6v0a2-Related Cutis Laxa	20
221		VSC014	Vascular Hyalinosis	20
222	c	FBL003	Fbln5-Related Cutis Laxa	19
223		NPH097	Nephrosialidosis	18
224		GLM024	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria	18
225		LNP001	Loin Pain Hematuria Syndrome	17
226		PX2001	Pax2-Related Disorder	16
227		MTH075	Methionine Malabsorption Syndrome	15
228		CTR151	Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	13
229		CHR645	Chromosome 8q12.1-Q21.2 Deletion Syndrome	13
230		RNL111	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia	13
231		CHN073	Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	12
232		RNL116	Renal and Mullerian Duct Hypoplasia	12
233	c	RTN226	Retinal Ciliopathy Due to Mutation in Usher Gene	11
234	c	ADL020	Adult Malignant Mesenchymoma	11
235		NPH100	Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease	11
236		HYP787	Hypophosphatemia, Renal, with Intracerebral Calcifications	10
237		KLL010	Kallikrein, Decreased Urinary Activity of	9
238		MSN012	Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities	9
239		NDL023	Noduli Cutanei, Multiple, with Urinary Tract Abnormalities	9
240	c	RTN223	Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene	9
241		VCT003	Vacterl Hydrocephaly	8
242		URL004	Urolithiasis, Uric Acid, Autosomal Dominant	8
243		PLV019	Pelvic Lipomatosis with Crossed Renal Ectopia	8
244		INF024	Infiltrating Bladder Lymphoepithelioma-Like Carcinoma	6
245		SLG001	Selig Benacerraf Greene Syndrome	6
246		RNL050	Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna	6
247		NPH099	Nephropathy, Chronic Tubulointerstitial	6
248		JJN005	Jejunal Atresia with Renal Adysplasia	6
249		OBS904	Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change	6
250		BLD024	Bladder Squamous Papilloma	5
251		ACR045	Acro-Pectoro-Renal Field Defect	5
252		RDC015	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	5
253		ULN026	Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia	5
254		GLY095	Glycoprotein, Renal	4
255		EPT027	Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract	4
256		OBS153	Obsolete: Craniosynostosis-Synostoses-Hypertensive Nephropathy Syndrome	4
257		RRG073	Rare Genetic Renal Disease	4
258		PLM171	Pulmonic Stenosis and Congenital Nephrosis	4
259		ALL011	Allain-Babin-Demarquez Syndrome	4
260		GNT063	Genetic Renal Tubular Disease	4
261		OBS876	Obsolete: Cardiomyopathy-Renal Anomalies Syndrome	3
262	P	OBS897	Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation	3
263	P	OBS898	Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes	3
264	P	OBS899	Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis	3
265	c	OBS902	Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes	3
266		RNL124	Renal Disease with Cataract	3
267		OBS905	Obsolete: Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation	3
268		OBS908	Obsolete: Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy	3
269		OBS604	Obsolete: Arterial Hypertension Due to Renal Artery Stenosis Secondary to Vasculitis	3
270		OBS650	Obsolete: Platelet Function Disease Associated with Renal Insufficiency	3
271		BLL008	Billet Bear Syndrome	2
272		GNT064	Genetic Renal Tumor	2
273		NPH109	Nephropathy-Associated Ciliopathy	2
274	c	RTN221	Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene	2
275	c	RTN222	Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene	2
276	c	RTN224	Retinal Ciliopathy Due to Mutation in the Rpgr Gene	2
277	c	RTN225	Retinal Ciliopathy Due to Mutation in the Rpgrip Gene	2
278		OBS652	Obsolete: Non-Pore-Loop Channelopathy Involved in Other Renal Tubular Disorder	2
279	P	HML033	Hemolytic Uremic Syndrome, Atypical 1	69
280	P	ZLL001	Zellweger Syndrome	64
281	P	ART062	Arthrogryposis, Renal Dysfunction, and Cholestasis 1	62
282	P	THR005	Thrombotic Thrombocytopenic Purpura	61
283	c	GLY060	Glycogen Storage Disease Ia	61
284	c	PRT132	Protoporphyria, Erythropoietic, 1	61
285		HYD002	Hydronephrosis	59
286	P	PYL005	Pyelonephritis	56
287		PRP082	Porphyria, Congenital Erythropoietic	55
288		HYP741	Hyperparathyroidism 2 with Jaw Tumors	53
289		WLM014	Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome	49
290	P	RNV001	Renovascular Hypertension	49
291		URT001	Urethritis	48
292		BCT004	Bacteriuria	48
293	c	FNC028	Fanconi Anemia, Complementation Group L	48
294		PDT035	Pediatric Systemic Lupus Erythematosus	46
295	c	NNN011	Noonan Syndrome 4	44
296		INT258	Interstitial Nephritis, Karyomegalic	44
297	P	RPD001	Rapidly Progressive Glomerulonephritis	44
298	c	ACT042	Acute Pyelonephritis	44
299	P	PRL003	Proliferative Glomerulonephritis	44
300		PRS042	Prostate Disease	44
301		CRS001	Crescentic Glomerulonephritis	43
302		URT037	Urethral Stricture	43
303	c	ALP105	Alport Syndrome 2, Autosomal Recessive	42
304		URT014	Ureterolithiasis	42
305	P	ANT061	Antenatal Bartter Syndrome	40
306		CNZ006	Coenzyme Q10 Deficiency, Primary, 1	38
307	c	CTR130	Cataract 9, Multiple Types	38
308		URT020	Ureterocele	37
309		MTN001	Metanephric Adenoma	37
310	c	BRD035	Bardet-Biedl Syndrome 15	37
311	c	ACT079	Acute Proliferative Glomerulonephritis	37
312		ACT040	Acute Poststreptococcal Glomerulonephritis	36
313	c	FNC059	Fanconi-Like Syndrome	36
314		PYL004	Pyelitis	36
315		MLY009	Molybdenum Cofactor Deficiency, Complementation Group B	36
316	c	CHR098	Chronic Pyelonephritis	35
317	c	CHR087	Chronic Cystitis	35
318	c	TYP024	Type Ii Mixed Cryoglobulinemia	34
319		HRS011	Horseshoe Kidney	34
320		KDN013	Kidney Hypertrophy	34
321		PRN007	Perinephritis	33
322		CNZ004	Coenzyme Q10 Deficiency, Primary, 3	32
323		VCT005	Vacterl Association, X-Linked, with or Without Hydrocephalus	32
324		RDT001	Radiation Cystitis	32
325		TRG001	Trigonitis	31
326		OSC001	Oeis Complex	30
327	c	CTR185	Cataract 30	30
328		URT016	Urethral Diverticulum	30
329	P	VNM004	Van Maldergem Syndrome	30
330		GLY111	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib	30
331	c	CTR175	Cataract 24	29
332	c	VNM002	Van Maldergem Syndrome 2	28
333		XNT001	Xanthogranulomatous Pyelonephritis	28
334	c	CTR181	Cataract 18	28
335		URT011	Urethral Calculus	27
336		DFF015	Diffuse Glomerulonephritis	27
337		OMS001	Omsk Hemorrhagic Fever	27
338		ORT001	Orthostatic Proteinuria	26
339	P	TTR028	Tetraamelia Syndrome 1	26
340		STN013	Stenotrophomonas Maltophilia Infection	25
341		MXD010	Mixed Epithelial Stromal Tumour	25
342	c	TRN053	Transient Pseudohypoaldosteronism	25
343	c	HML032	Hemolytic Uremic Syndrome, Atypical 4	24
344	c	GLL041	Galloway-Mowat Syndrome 4	24
345	c	CTR116	Cataract 15, Multiple Types	24
346		KDN009	Kidney Fibrosarcoma	23
347	c	CTR136	Cataract 41	23
348	c	JBR044	Joubert Syndrome 31	23
349	c	MCK036	Meckel Syndrome, Type 9	22
350		ACT041	Acute Diffuse Nephritis	22
351	c	TTR029	Tetraamelia Syndrome 2	21
352	c	CTR163	Cataract 46, Juvenile-Onset	21
353		ADN090	Adenosylcobalamin Deficiency	21
354	c	HYP712	Hypercalcemia, Infantile, 2	20
355		ATY045	Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality	20
356	c	SNR007	Senior-Loken Syndrome 7	20
357	c	CTR139	Cataract 42	20
358	c	CTR106	Cataract 20, Multiple Types	20
359		ATR053	Atresia of Urethra	19
360		FNC060	Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young	19
361		HVY003	Heavy Chain Deposition Disease	19
362		PYL001	Pyeloureteritis Cystica	18
363	c	PRT135	Protoporphyria, Erythropoietic, 2	18
364		EXD002	Exudative Glomerulonephritis	17
365		CNG330	Congenital Megacalycosis	16
366		CMP052	Complication in Hemodialysis	15
367		CLL035	Collagen Type Iii Glomerulopathy	15
368	c	ACQ026	Acquired Pseudoxanthoma Elasticum	14
369	c	TRN078	Transient Antenatal Bartter Syndrome	14
370		URC013	Urachal Diverticulum	13
371		MGL007	Megalocytic Interstitial Nephritis	13
372	c	VSC041	Vesicoureteral Reflux 7	12
373		MGC005	Megacystis-Megaureter Syndrome	11
374		KDN003	Kidney Lipoma	11
375		KDN005	Kidney Liposarcoma	11
376	c	BNG028	Benign Renovascular Hypertension	10
377	c	AML063	Amelogenesis Imperfecta Type 2a1	9
378	c	DNJ004	Dnajb2-Related Charcot-Marie-Tooth Disease Type 2	9
379	c	ATS289	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation	8
380	c	CHR021	Chronic Rapidly Progressive Glomerulonephritis	7
381	c	GLL043	Galloway-Mowat Syndrome 2	6
382		CNG106	Congenital Megalo-Ureter	6
383	c	BCK011	Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion	5
384		INF182	Infection-Related Hemolytic Uremic Syndrome	5
385		CNG268	Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form	4
386		CNG269	Congenital Primary Megaureter, Refluxing Form	4
387		BLK002	Balkan Hemorrhagic Fever	4
388		STR004	Stricture or Kinking of Ureter	4
389		NNC001	Non-Congenital Cyst of Kidney	4
390		BNG089	Benign Metanephric Tumour	4
391		FCL004	Focal Embolic Glomerulonephritis	3
392		ATH002	Atheroembolism of Kidney	3
393		GNT183	Genetic Systemic Disease with Glomerulopathy As a Major Feature	3
394		GNT181	Genetic Primary Hypomagnesemia with Hypocalciuria	3
395		DSR087	Disorder with Multisystemic Involvement and Glomerulopathy	2
396		BLD039	Bladder Adenocarcinoma	32
397		HMT008	Hematuria, Benign Familial	53
398		NNN005	Non-Invasive Bladder Papillary Urothelial Neoplasm	26
399		BLD031	Bladder Signet Ring Cell Adenocarcinoma	17
400		BLD043	Bladder Clear Cell Adenocarcinoma	29
401		INV004	Invasive Bladder Transitional Cell Carcinoma	32
402		INF029	Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant	10
403		RRR008	Rare Urinary Tract Tumor	6
404	c	MCR129	Microvascular Complications of Diabetes 1	66
405		TRN018	Transitional Cell Carcinoma	56
406		DNR002	Duane-Radial Ray Syndrome	55
407		URT023	Ureteric Orifice Cancer	27
408		CHR176	Chromophil Renal Cell Carcinoma	23
409		PHT013	Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction	17
410		RNL112	Renal, Genital, and Middle Ear Anomalies	12
411		TRN058	Transitional Cell Cancer of the Renal Pelvis and Ureter	12
412		NNN004	Non-Invasive Bladder Urothelial Carcinoma	9
413		BLD010	Bladder Colloid Adenocarcinoma	7
414		BLD014	Bladder Colonic Type Adenocarcinoma	6
415		MCR006	Micropapillary Variant Infiltrating Bladder Urothelial Carcinoma	5
416		LPD005	Lipid-Cell Variant Infiltrating Bladder Urothelial Carcinoma	5
417		PLS004	Plasmacytoid Variant Infiltrating Bladder Urothelial Carcinoma	5
418	c	OBS906	Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis	4
419		ALK013	Alkaptonuria	58
420		AMN007	Aminoacylase 1 Deficiency	35
421		SQL002	Squalene Synthase Deficiency	23
422	P	FML068	Familial Hypocalciuric Hypercalcemia	54
423	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	47
424		SCL046	Scalp-Ear-Nipple Syndrome	43
425		ADL060	Adult Polyglucosan Body Disease	35
426		CNZ009	Coenzyme Q10 Deficiency, Primary, 5	35
427		HYD030	Hydroxykynureninuria	27
428	c	MYG004	Myoglobinuria, Acute Recurrent, Autosomal Recessive	26
429		BRN134	Brain Malformations with or Without Urinary Tract Defects	26
430		NRD046	Neurodevelopmental Disorder with Microcephaly, Cataracts, and Renal Abnormalities	19
431	c	MYG006	Myoglobinuria, Autosomal Dominant	16
432		FTZ004	Fitzsimmons Walson Mellor Syndrome	7
433		MLT157	Multiple System Atrophy 1	70
434		LMY014	Leiomyoma, Uterine	56
435		ALP077	Alpha-Methylacetoacetic Aciduria	56
436	P	EMB005	Embryonal Rhabdomyosarcoma	53
437		GLY014	Glycerol Kinase Deficiency	49
438	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	45
439	c	RHB023	Rhabdomyosarcoma, Embryonal, 1	43
440	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	38
441		BLB005	Beaulieu-Boycott-Innes Syndrome	36
442		MCR257	Microcephaly, Amish Type	34
443		HYP139	Hypotrichosis-Lymphedema-Telangiectasia Syndrome	33
444		MLL022	Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly	24
445	c	RHB021	Rhabdomyosarcoma, Embryonal, 2	23
446		CMB084	Combined Oxidative Phosphorylation Deficiency 34	22
447		MLY011	Maleylacetoacetate Isomerase Deficiency	19
448		MCR304	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs	19
449		FRS010	Forsythe-Wakeling Syndrome	19
450		HRS039	Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness	16
451		CLP007	Clpb Deficiency	15
452		HYP786	Hypokalemic Alkalosis, Familial, with Specific Renal Tubulopathy	14
453		URT041	Urethral Obstruction Sequence	13
454		NPH050	Nephropathy, Progressive, with Deafness	13
455		TBL024	Tubular Renal Disease-Cardiomyopathy Syndrome	12
456		NNP009	Non-Papillary Transitional Cell Carcinoma of the Bladder	11
457		THR040	Thrombocytopenia with Elevated Serum Iga and Renal Disease	10
458		BLD050	Bladder Urachal Carcinoma	9
459		NRP052	Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine	9
460		SNT001	Santos Mateus Leal Syndrome	8
461	P	OBS777	Obsolete: Male Infertility with Impaired Virilization	8
462		BLD021	Bladder Urachal Adenocarcinoma	7
463	c	OBS792	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder	6
464		BLD013	Bladder Urachal Squamous Cell Carcinoma	6
465		BLD016	Bladder Papillary Clear Cell Adenocarcinoma	6
466		FRS005	Fraser Jequier Chen Syndrome	6
467	c	OBS790	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect	6
468		BLD004	Bladder Urachal Urothelial Carcinoma	5
469		BLD015	Bladder Tubulo-Cystic Clear Cell Adenocarcinoma	5
470		NRX002	Neuroaxonal Dystrophy Renal Tubular Acidosis	5
471		GLL001	Gall Bladder Carcinoma in Situ	5
472		ALS004	Alsing Syndrome	5
473		BLD017	Bladder Mixed Adenocarcinoma	4
474		LYM013	Lymphoma-Like Variant Infiltrating Bladder Urothelial Carcinoma	4
475	c	OBS776	Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder	4
476	c	OBS791	Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia	4
477		URN002	Urinary Tract Non-Invasive Transitional Cell Neoplasm	4
478		BLD020	Bladder Diffuse Clear Cell Adenocarcinoma	4
479		OCL029	Oculo Skeletal Renal Syndrome	3
480		OBS173	Obsolete: Neuroaxonal Dystrophy-Renal Tubular Acidosis Syndrome	3
481		OBS177	Obsolete: Oculo-Skeletal-Renal Syndrome	3
482	c	OBS901	Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis	3
483	c	OBS903	Obsolete: Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation	3
484	c	OBS769	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease	3
485	c	OBS782	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease	3
486	c	OBS783	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure	3
487	c	OBS784	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity	3
488	c	OBS785	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease	3
489	c	OBS786	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis	3
490	c	OBS787	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder	3
491	c	OBS788	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease	3
492	c	OBS789	Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness	3
493	c	OBS793	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related	3
494	c	OBS794	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin	3
495	c	OBS795	Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis	3
496	c	OBS796	Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma	3
497		OBS109	Obsolete: Familial Renal Cell Carcinoma	3
498		NNR019	Non-Rare Renal Disease	3
499	c	TBR025	Tuberous Sclerosis 1	76
500	P	JBR020	Joubert Syndrome 1	72
501	c	TBR026	Tuberous Sclerosis 2	71
502	P	KDN018	Kidney Disease	70
503		ALP103	Alpha-1-Antitrypsin Deficiency	63
504	c	ACT068	Acute Cystitis	63
505	P	PRM002	Primary Hyperoxaluria	62
506	P	CTR002	Cataract	60
507		CHR001	Churg-Strauss Syndrome	60
508	P	GLY013	Glycogen Storage Disease	59
509	c	ACT071	Acute Kidney Failure	59
510	P	CYS018	Cystitis	59
511		END030	End Stage Renal Failure	58
512		ADL030	Adult-Onset Still's Disease	58
513	c	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	57
514		VRG001	Variegate Porphyria	56
515	P	BRT004	Bartter Disease	55
516		PLV003	Pelvic Inflammatory Disease	55
517	c	NPH055	Nephrotic Syndrome, Type 1	55
518	P	DBT005	Diabetes Insipidus	55
519	c	OST163	Osteopetrosis, Autosomal Recessive 3	54
520	P	CYS039	Cystic Kidney Disease	54
521		HYP815	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome	53
522		MMB001	Membranoproliferative Glomerulonephritis	53
523		SZR026	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance	53
524	c	JBR041	Joubert Syndrome 3	52
525	c	BRD014	Bardet-Biedl Syndrome 2	51
526		GLC004	Galactokinase Deficiency	51
527	P	FNC004	Fanconi Syndrome	50
528	P	MMB011	Membranous Nephropathy	50
529	c	FNC029	Fanconi Anemia, Complementation Group I	50
530	P	RNL007	Renal Tubular Acidosis	50
531	c	CHR516	Charcot-Marie-Tooth Disease, Type 4c	50
532	c	ACT078	Acute Porphyria	49
533		RNL078	Renal Dysplasia	49
534		INP001	Inappropriate Adh Syndrome	49
535		URM002	Uremia	49
536	c	NPH030	Nephronophthisis 2	49
537	c	BRD018	Bardet-Biedl Syndrome 6	48
538	c	OST126	Osteopetrosis, Autosomal Recessive 1	48
539	c	CTR098	Cataract 1, Multiple Types	47
540		RNL077	Renal Fibrosis	47
541		INT067	Interstitial Nephritis	46
542		ANR004	Anuria	46
543	P	HYP347	Hypotonia-Cystinuria Syndrome	46
544		KDN015	Kidney Angiomyolipoma	46
545	c	JBR012	Joubert Syndrome 5	46
546		HYP236	Hyperbilirubinemia, Rotor Type	45
547	c	JBR015	Joubert Syndrome 6	45
548	c	CTR103	Cataract 4, Multiple Types	45
549	c	JBR025	Joubert Syndrome 17	45
550		ACT003	Acute Kidney Tubular Necrosis	45
551		MSN001	Mesangial Proliferative Glomerulonephritis	45
552	c	CHR519	Charcot-Marie-Tooth Disease, Type 4b2	45
553	c	BRD016	Bardet-Biedl Syndrome 4	44
554	c	NPH031	Nephronophthisis 3	44
555	c	CTR096	Cataract 6, Multiple Types	43
556	P	MYG005	Myoglobinuria	43
557	c	JBR024	Joubert Syndrome 14	43
558		OBS082	Obstructive Nephropathy	43
559	c	JBR035	Joubert Syndrome 24	43
560	c	NPH053	Nephronophthisis 11	43
561	c	BRT052	Bartter Syndrome, Type 1, Antenatal	43
562	c	JBR016	Joubert Syndrome 10	43
563		IDP073	Idiopathic Hypercalciuria	43
564	c	OST120	Osteopetrosis, Autosomal Recessive 5	42
565	c	JBR013	Joubert Syndrome 8	42
566	c	JBR014	Joubert Syndrome 9	42
567		MDL009	Medullary Sponge Kidney	42
568	c	NPH068	Nephronophthisis 16	41
569	c	GLY097	Glycogen Storage Disease Ixb	41
570	c	PST041	Posterior Urethral Valves	41
571	c	JBR031	Joubert Syndrome 21	41
572	c	CTR132	Cataract 3, Multiple Types	40
573	c	BRD048	Bardet-Biedl Syndrome 18	40
574	c	NPH069	Nephronophthisis 15	40
575		DNS007	Dense Deposit Disease	40
576		GLM044	Glomerular Disease	39
577		IMM001	Immune-Complex Glomerulonephritis	39
578	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	39
579	c	CTR118	Cataract 14, Multiple Types	39
580	c	CTR183	Cataract 38	39
581		CDQ001	Cauda Equina Syndrome	39
582	c	AML057	Amelogenesis Imperfecta, Type Iiia	39
583		THR123	Thrombotic Microangiopathy	38
584		KLL014	Kelley-Seegmiller Syndrome	38
585	c	JBR022	Joubert Syndrome 20	38
586	c	JBR028	Joubert Syndrome 13	38
587		AMN006	Aminoaciduria	38
588	c	FCL026	Focal Segmental Glomerulosclerosis 2	38
589	c	DNT021	Dent Disease 2	38
590		URT004	Urethral Syndrome	38
591		GLY081	Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency	37
592	c	JBR026	Joubert Syndrome 15	37
593		BLD045	Bladder Diverticulum	37
594	c	CHR020	Chronic Interstitial Cystitis	37
595	c	BRT056	Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness	36
596	c	AML020	Amelogenesis Imperfecta, Type Iv	36
597	c	CTR122	Cataract 5, Multiple Types	36
598	c	CTR113	Cataract 11, Multiple Types	36
599		DBT022	Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism	36
600	c	CTR115	Cataract 16, Multiple Types	36
601	c	JBR027	Joubert Syndrome 16	36
602	c	JBR037	Joubert Syndrome 26	36
603	c	CTR174	Cataract 40	36
604	c	JBR030	Joubert Syndrome 22	36
605	c	JBR042	Joubert Syndrome 23	36
606	c	CTR141	Cataract 21, Multiple Types	35
607	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	35
608		BLD009	Bladder Neck Obstruction	35
609		TBS001	Tabes Dorsalis	35
610	c	CTR095	Cataract 8, Multiple Types	35
611	c	MLG003	Malignant Renovascular Hypertension	35
612		MTC030	Mitochondrial Complex V Deficiency, Nuclear Type 3	34
613	c	CTR145	Cataract 44	34
614	c	CTR170	Cataract 30, Multiple Types	34
615	P	ADL014	Adult Mesoblastic Nephroma	34
616		LWR018	Lower Urinary Tract Obstruction, Congenital	34
617	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	34
618	c	CTR129	Cataract 31, Multiple Types	34
619	P	ACR072	Acrorenal Syndrome	33
620	c	ATM045	Autoimmune Glomerulonephritis	33
621	c	CTR102	Cataract 2, Multiple Types	33
622		EPT005	Epithelial Predominant Wilms' Tumor	32
623	c	NPH086	Nephronophthisis 20	32
624		KDN001	Kidney Cortex Necrosis	32
625		PDN001	Pudendal Neuralgia	31
626	P	ATS382	Autosomal Dominant Tubulointerstitial Kidney Disease	31
627	c	CHR491	Charcot-Marie-Tooth Disease, Dominant Intermediate a	31
628	c	SPS036	Spastic Paraplegia 3	31
629	c	GLY017	Glycogen Storage Disease Ic	31
630	c	CTR097	Cataract 34, Multiple Types	31
631	c	JBR045	Joubert Syndrome 33	30
632	c	FCL053	Focal Segmental Glomerulosclerosis 8	30
633		KDN006	Kidney Papillary Necrosis	30
634		MTH013	Methylmalonate Semialdehyde Dehydrogenase Deficiency	30
635	c	PSD093	Pseudohypoaldosteronism, Type Iid	30
636		RNL054	Renal Tubular Acidosis, Distal, with Hemolytic Anemia	30
637	c	INF147	Infantile Nephronophthisis	30
638		RNL021	Renal Tubular Transport Disease	30
639	c	FCL055	Focal Segmental Glomerulosclerosis 9	29
640	c	AML018	Amelogenesis Imperfecta, Type Ic	29
641	c	CTR119	Cataract 32, Multiple Types	29
642		TBL025	Tubulointerstitial Nephritis with Uveitis	29
643		PCM002	Pauci-Immune Glomerulonephritis	29
644	c	NPH096	Nephrotic Syndrome, Type 12	28
645		BLD041	Bladder Calculus	28
646		SCN001	Secondary Hyperparathyroidism of Renal Origin	28
647	c	CTR166	Cataract 33, Multiple Types	28
648	c	CTR121	Cataract 25	27
649	c	RNL016	Renal Infectious Disease	27
650	c	CTR125	Cataract 7	27
651	c	CTR158	Cataract 37	27
652	c	NPH076	Nephrotic Syndrome, Type 10	26
653		IMP003	Impaired Renal Function Disease	26
654	c	HML035	Hemolytic Uremic Syndrome, Atypical 2	26
655	c	CTR111	Cataract 36	26
656	c	CTR180	Cataract 22, Multiple Types	26
657	c	JBR039	Joubert Syndrome 28	26
658	c	JBR043	Joubert Syndrome 32	26
659		FBR085	Fibrillary Glomerulonephritis	25
660	c	CHR026	Charcot-Marie-Tooth Disease Type X	25
661	c	JBR021	Joubert Syndrome 18	25
662	c	JBR040	Joubert Syndrome 30	25
663		HYP481	Hyperbiliverdinemia	25
664	c	BRT024	Bartter Syndrome Type 4	25
665	c	BRD051	Bardet-Biedl Syndrome 20	25
666		SDH011	Sedoheptulokinase Deficiency	25
667		NPH008	Nephrogenic Adenoma of the Urethra	25
668		NPH039	Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities	25
669	c	PLY141	Polycystic Kidney Disease 5	24
670	c	FRS016	Fraser Syndrome 2	24
671		BLD030	Bladder Tuberculosis	24
672	c	NNN029	Noonan Syndrome 11	24
673	c	GLY001	Glycogen Storage Disease Ix	24
674	c	CTR131	Cataract 17, Multiple Types	24
675	c	SNR004	Senior-Loken Syndrome 4	24
676		AXL004	Axial Mesodermal Dysplasia Spectrum	24
677		URC004	Urachal Cancer	24
678	c	CTR124	Cataract 10, Multiple Types	24
679	c	CTR182	Cataract 23, Multiple Types	24
680	c	HML037	Hemolytic Uremic Syndrome, Atypical 5	23
681	c	CTR157	Cataract 28	23
682		PLY116	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	23
683	c	JBR038	Joubert Syndrome 27	23
684	c	CTR105	Cataract 12, Multiple Types	23
685		NRF010	Neurofaciodigitorenal Syndrome	23
686		FCC002	Faciocardiorenal Syndrome	23
687	c	CTR165	Cataract 19, Multiple Types	23
688	c	CTR110	Cataract 26, Multiple Types	23
689		ATS309	Autosomal Dominant Leukodystrophy with Autonomic Disease	23
690	c	CTR162	Cataract 47	22
691	c	TWN010	Townes-Brocks Syndrome 2	22
692	c	CTR187	Cataract 48	22
693	c	CTR169	Cataract 29	22
694	c	HRD156	Hereditary Central Diabetes Insipidus	22
695	c	CTR184	Cataract 39, Multiple Types	22
696	c	SNR011	Senior-Loken Syndrome 3	22
697	c	SBC010	Subacute Glomerulonephritis	21
698	c	ACQ034	Acquired Central Diabetes Insipidus	21
699		CLL007	Cellular Congenital Mesoblastic Nephroma	21
700		URM001	Uremic Neuropathy	21
701	c	ATS310	Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related	21
702	c	SRC024	Sarcoidosis 3	20
703		DPL007	Duplication of Urethra	20
704		ESN013	Eosinophilic Cystitis	20
705	c	CTR159	Cataract 35	20
706	c	PLY176	Polycystic Kidney Disease 4	20
707		GNT182	Genetic Nephrotic Syndrome	20
708	c	CHR549	Charcot-Marie-Tooth Disease Type 2l	20
709	c	CTR144	Cataract 43	20
710	c	PLY173	Polycystic Liver Disease 2 with or Without Kidney Cysts	20
711		CRM007	Crome Syndrome	20
712		BLT024	Bilateral Renal Aplasia	20
713	c	HYP445	Hypomagnesemia 6, Renal	19
714	c	CTR160	Cataract 45	19
715		LWR004	Lower Urinary Tract Calculus	19
716	c	WLM015	Wilms Tumor 3	19
717	c	SYS053	Systemic Lupus Erythematosus 5	19
718		ALN003	Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus	18
719		VLN001	Valinemia	18
720		KDN014	Kidney Leiomyosarcoma	18
721	c	CTR178	Cataract 27	18
722	c	PLY174	Polycystic Liver Disease 3 with or Without Kidney Cysts	18
723		THY105	Thyrocerebroretinal Syndrome	17
724	c	CTR128	Cataract 33	16
725		IGG011	Igg4-Related Kidney Disease	16
726		PTN009	Patent Urachus	16
727	c	AML056	Amelogenesis Imperfecta, Type Iiib	16
728		XLN232	X-Linked Alport Syndrome-Diffuse Leiomyomatosis	15
729	c	SPS029	Spastic Paraplegia 19	15
730		ACT215	Actg2-Related Disorders	15
731	c	RNL117	Renal Tubular Acidosis Iii	15
732		LGH014	Light and Heavy Chain Deposition Disease	15
733		STR108	Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome	13
734	c	ATS274	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease	13
735	c	MXD037	Mixed Cryoglobulinemia Type Iii	13
736	c	ACR115	Acrorenal Syndrome, Autosomal Recessive	13
737	c	CTR025	Cataract, Total Congenital	13
738		URT019	Urethral Gland Abscess	13
739		BLS005	Blastema Predominant Kidney Wilms' Tumor	13
740	P	ERY016	Erythropoietic Protoporphyria, Autosomal Recessive	12
741	P	CNG326	Congenital Primary Megaureter	12
742	c	VSC040	Vesicoureteral Reflux 4	12
743	c	JBR048	Joubert Syndrome 36	11
744	P	BNG003	Benign Hypertensive Renal Disease	9
745		CLS004	Classic Congenital Mesoblastic Nephroma	9
746		ERY041	Erythrocyte Galactose Epimerase Deficiency	9
747		ACQ046	Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome	9
748	c	ATS092	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation	8
749	c	CNG348	Congenital Sialidosis Type 2	7
750	c	ATS363	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation	6
751		IDP096	Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance	6
752		GLC110	Galactose Mutarotase Deficiency	6
753	c	CHR572	Charcot-Marie-Tooth Disease Type 7	6
754		MTC002	Metachronous Kidney Wilms' Tumor	5
755		ISL027	Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type	5
756	c	HYP851	Hypotonia-Cystinuria Type 1 Syndrome	5
757		CNG583	Congenital Urachal Anomaly	5
758		PCM004	Pauci-Immune Glomerulonephritis with Anca	5
759		RNL020	Renal Pelvis Urothelial Papilloma	4
760	c	DPL004	D-Plus Hemolytic Uremic Syndrome	4
761	c	CTR008	Cataract Congenital Autosomal Dominant	4
762		BCK010	Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion	4
763		CNG270	Congenital Primary Megaureter, Obstructed Form	4
764	c	PRM147	Primary Megaureter, Adult-Onset Form	4
765		CNG580	Congenital Disorder of Glycosylation with Nephropathy As a Major Feature	4
766		CNG331	Congenital Bilateral Megacalycosis	4
767		UNL009	Unilateral Congenital Megacalycosis	4
768		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	4
769		SYS078	Systemic Disease with Glomerulopathy As a Major Feature	4
770		GNT180	Genetic Primary Hypomagnesemia with Normocalciuria	3
771		RRG077	Rare Genetic Cause of Hypertension	3
772		PRM345	Primary Hypomagnesemia with Refractory Seizures and Intellectual Disability	3
773		IDP094	Idiopathic Multidrug-Resistant Nephrotic Syndrome	3
774		NPH112	Nephrotic Syndrome Without Extrarenal Manifestations	3
775		SYS079	Systemic Vasculitis Associated with Glomerulopathy	3
776		ATY046	Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome	3
777		CNG585	Congenital Primary Megaureter, Refluxing and Obstructed Form	3
778		NNG004	Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature	2
779		CLL042	Collagen-Related Glomerular Basement Membrane Disease	2
780	P	MLN066	Melanoma, Cutaneous Malignant 1	70
781	c	MLN043	Melanoma, Cutaneous Malignant 8	35
782	c	MLN067	Melanoma, Cutaneous Malignant 2	29
783	c	MLN075	Melanoma, Cutaneous Malignant 3	27
784	c	MLN055	Melanoma, Cutaneous Malignant 10	24
785	c	MLN077	Melanoma, Cutaneous Malignant 9	23
786	c	MLN076	Melanoma, Cutaneous Malignant 5	23
787	c	MLN042	Melanoma, Cutaneous Malignant 6	22
788	c	MLN074	Melanoma, Cutaneous Malignant 4	20
789	c	MLN040	Melanoma, Cutaneous Malignant 7	20
790		OBS373	Obsolete: Renal Cell Carcinoma Associated with Neuroblastoma	7
791		VSC044	Visceral Myopathy	51
792	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	55
793	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	50
794	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	50
795	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	49
796	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	48
797	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	47
798		3MC003	3mc Syndrome	46
799	P	MTC010	Mitochondrial Dna Depletion Syndrome	45
800	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	44
801	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	43
802	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	43
803	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	43
804	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	38
805	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	31
806	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	27
807	c	MTC014	Mitochondrial Dna Deletion Syndromes	27
808	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
809	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
810	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	22
811	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	18
812	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	18
813	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	17
814	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	9
815	P	3MT016	3-Methylglutaconic Aciduria, Type Iii	65
816	P	SHR029	Short Syndrome	57
817	P	NRM002	Normal Pressure Hydrocephalus	56
818		SLR001	Sialuria	50
819	P	AMY084	Amyloidosis, Finnish Type	49
820	P	SPS133	Spastic Paraplegia 2, X-Linked	48
821	c	SHR030	Short Qt Syndrome	48
822	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	46
823	c	FML294	Familial Short Qt Syndrome	43
824	c	SHR032	Short Qt Syndrome 2	30
825	c	SPS198	Spastic Paraplegia 16, X-Linked	30
826	c	SHR031	Short Qt Syndrome 1	29
827	c	SHR033	Short Qt Syndrome 3	28
828	c	SPS062	Spastic Paraplegia 34, X-Linked	28
829	c	FML249	Familial Amyloidosis, Finnish Type	21
830	c	HYD071	Hydrocephalus, Normal-Pressure, 1	20
831		BLD018	Bladder Hepatoid Adenocarcinoma	8
832		KRN006	Karandikar Maria Kamble Syndrome	7
833	c	FNC027	Fanconi Anemia, Complementation Group a	81
834		RNL114	Renal Cell Carcinoma, Nonpapillary	78
835	P	ALG028	Alagille Syndrome 1	73
836		SCK003	Sickle Cell Anemia	72
837	P	SRC025	Sarcoidosis 1	70
838	P	AMY004	Amyloidosis	70
839		CHL065	Cholangiocarcinoma	67
840		NPH091	Nephrolithiasis, Calcium Oxalate	66
841	P	RNL100	Renal Hypodysplasia/aplasia 1	63
842		CYS013	Cystinuria	62
843	c	FNC043	Fanconi Anemia, Complementation Group E	62
844		LSC001	Lesch-Nyhan Syndrome	62
845		TKY002	Takayasu Arteritis	61
846	P	INT143	Interstitial Cystitis	61
847	P	PLY169	Polycystic Liver Disease 1 with or Without Kidney Cysts	60
848	P	THL005	Thalassemia	60
849	c	ATS347	Autosomal Dominant Polycystic Kidney Disease	59
850	P	PLY014	Polycystic Kidney Disease	59
851	P	PLV020	Pelvic Organ Prolapse	59
852	P	PLY017	Polyarteritis Nodosa	58
853	c	PSD114	Pseudohypoaldosteronism, Type I, Autosomal Recessive	58
854	P	FNC044	Fanconi Anemia, Complementation Group C	58
855	P	GLM007	Glomerulonephritis	57
856	P	ALP106	Alport Syndrome 1, X-Linked	55
857	P	MGL001	Megaloblastic Anemia	55
858		RLP001	Relapsing Polychondritis	54
859	c	THR045	Thrombotic Thrombocytopenic Purpura, Congenital	54
860	c	FNC042	Fanconi Anemia, Complementation Group D2	54
861	c	ORF034	Orofaciodigital Syndrome Vi	52
862	P	D2H002	D-2-Hydroxyglutaric Aciduria 1	52
863	P	OLV001	Olivopontocerebellar Atrophy	52
864	c	FNC024	Fanconi Anemia, Complementation Group D1	52
865		TRC003	Trichomoniasis	52
866		NPH003	Nephrocalcinosis	51
867	c	FNC025	Fanconi Anemia, Complementation Group J	51
868		VTR016	Vater/vacterl Association	51
869		ADR042	Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency	51
870		HPT014	Hepatorenal Syndrome	50
871	c	NPH019	Nephronophthisis 1	50
872	c	AMY009	Amyloidosis Aa	50
873	P	CRY007	Cryoglobulinemia, Familial Mixed	50
874		NPH010	Nephrosclerosis	49
875		RNL011	Renal Osteodystrophy	49
876	c	JBR018	Joubert Syndrome 4	49
877		HRT031	Hartnup Disorder	49
878		MYH015	Myh-9 Related Disease	49
879		CKT002	Cakut	49
880	c	L2H001	L-2-Hydroxyglutaric Aciduria	49
881	c	FNC048	Fanconi Anemia, Complementation Group O	49
882		BLD044	Bladder Disease	48
883	P	SLL003	Salla Disease	48
884	c	BRD020	Bardet-Biedl Syndrome 8	48
885		IGG001	Iga Glomerulonephritis	48
886	P	RNL015	Renal Hypertension	48
887	c	FNC046	Fanconi Anemia, Complementation Group P	47
888	P	AML002	Amelogenesis Imperfecta	47
889	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	47
890	c	FNC032	Fanconi Anemia, Complementation Group B	47
891	c	FNC023	Fanconi Anemia, Complementation Group N	47
892	P	PRP056	Porphyria, Acute Hepatic	46
893	c	ALP104	Alport Syndrome 3, Autosomal Dominant	46
894		EXS017	Exstrophy of Bladder	46
895	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	46
896	c	FNC047	Fanconi Anemia, Complementation Group Q	46
897	P	PSD003	Pseudohypoaldosteronism	45
898		HNT019	Hantavirus Hemorrhagic Fever with Renal Syndrome	45
899	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	45
900	c	BRD013	Bardet-Biedl Syndrome 12	44
901	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	44
902		CTY001	Cat Eye Syndrome	44
903	c	MCK014	Meckel Syndrome, Type 5	44
904	c	CHR421	Charcot-Marie-Tooth Disease, Type 4h	44
905		ANG060	Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps	44
906	c	FNC045	Fanconi Anemia, Complementation Group F	43
907		LPP002	Lipoprotein Glomerulopathy	43
908	c	FNC057	Fanconi Anemia, Complementation Group U	43
909		HYP550	Hypomagnesemia 1, Intestinal	43
910		PHS004	Phosphoribosylpyrophosphate Synthetase Superactivity	42
911	c	NPH035	Nephronophthisis 9	42
912		ONC003	Oncogenic Osteomalacia	42
913		BNS003	Binswanger's Disease	42
914		MLT084	Multicystic Dysplastic Kidney	42
915	c	FNC030	Fanconi Anemia, Complementation Group G	42
916		MTH077	Methylmalonic Aciduria, Cbla Type	42
917	c	FNC058	Fanconi Anemia, Complementation Group R	42
918		BP1002	Bap1 Tumor Predisposition Syndrome	41
919	c	CHR504	Charcot-Marie-Tooth Disease, Type 4b3	41
920	P	XNT004	Xanthinuria	41
921	P	FML156	Familial Hyperaldosteronism	41
922	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	41
923	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	41
924	c	CNG029	Congenital Mesoblastic Nephroma	40
925		INF159	Infantile Sialic Acid Storage Disease	40
926		NPH078	Nephrolithiasis, Uric Acid	40
927	c	FNC052	Fanconi Anemia, Complementation Group T	40
928	c	2HY001	2-Hydroxyglutaric Aciduria	40
929	c	HNF003	Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease	39
930	c	FNC056	Fanconi Anemia, Complementation Group V	39
931	c	NPH033	Nephronophthisis 7	39
932		C3G002	C3 Glomerulopathy	39
933	c	HYP603	Hyperoxaluria, Primary, Type Iii	39
934		PTT002	Potter's Syndrome	38
935		IDP091	Idiopathic Nephrotic Syndrome	38
936	c	NPH067	Nephronophthisis 12	38
937		KDN002	Kidney Rhabdoid Cancer	38
938		MLN011	Malonyl-Coa Decarboxylase Deficiency	37
939	c	WLM011	Wilms Tumor 6	37
940		CFH006	Cfhr5 Deficiency	37
941	c	CHR484	Charcot-Marie-Tooth Disease, Dominant Intermediate F	36
942	P	CYS007	Cystic Nephroma	36
943		NPH013	Nephrogenic Syndrome of Inappropriate Antidiuresis	36
944		ANT002	Anti-Basement Membrane Glomerulonephritis	36
945	c	CHR666	Charcot-Marie-Tooth Disease, Recessive Intermediate B	36
946	c	XNT011	Xanthinuria, Type Ii	36
947	c	SYS061	Systemic Lupus Erythematosus 16	35
948	c	CNG199	Congenital Disorder of Glycosylation, Type Im	35
949	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	35
950	P	HRD020	Hereditary Renal Cell Carcinoma	35
951	c	FCL028	Focal Segmental Glomerulosclerosis 5	35
952	c	TWN011	Townes-Brocks Syndrome 1	35
953	c	FNC062	Fanconi Anemia, Complementation Group S	34
954		KRN001	Korean Hemorrhagic Fever	34
955	c	CHR609	Charcot-Marie-Tooth Disease, Type 4k	34
956	c	VCT004	Vacterl Association with Hydrocephalus	33
957	c	PSD090	Pseudohypoaldosteronism, Type Iia	33
958	c	NPH047	Nephrotic Syndrome, Type 4	32
959		OLG021	Oligomeganephronia	32
960		HYP193	Hypocomplementemic Urticarial Vasculitis	32
961		RNL012	Renal Tuberculosis	32
962	c	HRD142	Hereditary Xanthinuria	32
963		GLB024	Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor	31
964	P	RNL115	Renal Tubular Acidosis, Proximal	31
965	c	PRX094	Paroxysmal Nocturnal Hemoglobinuria 1	31
966		NPH001	Nephrogenic Adenoma	31
967		RNL019	Renal Pelvis Transitional Cell Carcinoma	30
968	c	GLL040	Galloway-Mowat Syndrome 3	30
969		MLT003	Multilocular Clear Cell Renal Cell Carcinoma	30
970	c	THR044	Thrombotic Thrombocytopenic Purpura, Acquired	30
971	c	PRP091	Porphyria Cutanea Tarda, Type I	30
972		UTR057	Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis	29
973	c	MLG004	Malignant Hypertensive Renal Disease	28
974		GLN006	Glandular Cystitis	28
975		RNL005	Renal Wilms' Tumor	28
976	c	SPS039	Spastic Paraplegia 5a	28
977		EPD025	Epidermolysis Bullosa with Pyloric Atresia	28
978	P	VCT008	Vacterl with Hydrocephalus	28
979	P	FML284	Familial Vesicoureteral Reflux	28
980		MCN004	Mucinous Tubular and Spindle Renal Cell Carcinoma	27
981	c	MCK035	Meckel Syndrome, Type 10	27
982	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	26
983	c	HYP813	Hyperuricemic Nephropathy, Familial Juvenile, 2	26
984		IMM053	Immunotactoid Glomerulopathy	26
985		DVL024	Developmental Delay with or Without Dysmorphic Facies and Autism	26
986	P	RNL123	Renal Agenesis, Bilateral	25
987	c	BRN086	Branchiootorenal Syndrome 2	25
988	c	MCK026	Meckel Syndrome 12	25
989	c	HYP376	Hypouricemia, Renal, 2	25
990	c	NPH095	Nephrotic Syndrome, Type 11	25
991	c	PSD068	Pseudohypoaldosteronism, Type Iic	25
992	c	FNC061	Fanconi Anemia, Complementation Group W	25
993	c	D2H003	D-2-Hydroxyglutaric Aciduria 2	25
994	c	NPH074	Nephrotic Syndrome, Type 9	24
995	c	SNR016	Senior-Loken Syndrome 9	24
996		STN006	Steinfeld Syndrome	24
997	c	NPH103	Nephrotic Syndrome, Type 15	24
998	c	HML036	Hemolytic Uremic Syndrome, Atypical 6	24
999	c	PSD094	Pseudohypoaldosteronism, Type Iib	24
1000	c	CHR135	Charcot-Marie-Tooth Disease Type 2a	24
1001	c	FCL027	Focal Segmental Glomerulosclerosis 3	23
1002	c	SYS038	Systemic Lupus Erythematosus 2	23
1003		PLY179	Polyomavirus-Associated Nephropathy	23
1004	c	PRX067	Paroxysmal Nocturnal Hemoglobinuria 2	23
1005		IDP095	Idiopathic Steroid-Resistant Nephrotic Syndrome	23
1006	P	DRR020	Diarrhea 10, Protein-Losing Enteropathy Type	23
1007		RNL004	Renal Pelvis Adenocarcinoma	23
1008	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	23
1009		NPH006	Nephrogenic Adenofibroma	23
1010		KDN004	Kidney Hemangiopericytoma	22
1011	c	GLL042	Galloway-Mowat Syndrome 5	22
1012	c	URF002	Urofacial Syndrome 2	22
1013	c	NPH106	Nephrotic Syndrome, Type 18	22
1014	c	PLY177	Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease	22
1015	c	FCL082	Focal Segmental Glomerulosclerosis 4	22
1016	c	SNR006	Senior-Loken Syndrome 6	22
1017	c	NNN034	Noonan Syndrome 12	22
1018		BLT020	Bilateral Multicystic Dysplastic Kidney	21
1019	c	BRN138	Branchiootorenal Spectrum Disorder	21
1020	c	RNL099	Renal Hypodysplasia/aplasia 2	20
1021	c	LDD008	Liddle Syndrome 2	20
1022		NLP003	Nail-Patella-Like Renal Disease	20
1023	c	GLM014	Glomerulopathy with Fibronectin Deposits 1	20
1024	c	HYP718	Hyperuricemic Nephropathy, Familial Juvenile, 4	20
1025		CRB163	Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome	19
1026	c	JVN046	Juvenile Polymyositis	19
1027	c	PRM150	Primary Localized Amyloidosis	19
1028	c	PLY175	Polycystic Liver Disease 4 with or Without Kidney Cysts	19
1029	c	AHM002	Ah Amyloidosis	19
1030		PHS019	Phosphohydroxylysinuria	18
1031	c	DRR019	Diarrhea 7, Protein-Losing Enteropathy Type	17
1032		RRC029	Rare Cause of Hypertension	17
1033		FML315	Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia	16
1034		ISL133	Isolated Epispadias	16
1035	c	CHR471	Chronic Hepatic Porphyria	16
1036		SPS196	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	16
1037	c	CNG542	Congenital Membranous Nephropathy Due to Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	15
1038		IMM051	Immunotactoid or Fibrillary Glomerulopathy	15
1039		RRR010	Rare Renal Tumor	15
1040		SNR014	Senior-Boichis Syndrome	14
1041		MLT112	Multiloculated Renal Cyst	14
1042		APV001	Aapoaiv Amyloidosis	14
1043	P	FRS017	Fraser-Like Syndrome	14
1044		GRH002	Graham Boyle Troxell Syndrome	14
1045	P	ANT062	Anterior Urethral Valve	13
1046		URC012	Urachal Sinus	13
1047	c	PRM222	Primary Polyarteritis Nodosa	13
1048	c	INT094	Intermediate Severe Salla Disease	13
1049	c	VSC042	Vesicoureteral Reflux 5	12
1050		STR009	Stromal Predominant Kidney Wilms' Tumor	12
1051	c	PLV014	Pelvic Organ Prolapse 2	12
1052	c	BCK012	Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15	11
1053	c	PRM152	Primary Renal Tubular Acidosis	11
1054		MXD009	Mixed Cell Type Kidney Wilms' Tumor	10
1055		PCM003	Pauci-Immune Glomerulonephritis Without Anca	10
1056		CHL044	Childhood Kidney Angiomyolipoma	10
1057		ERY024	Erythropoietic Uroporphyria Associated with Myeloid Malignancy	10
1058	c	RRP004	Rare Primary Hyperaldosteronism	9
1059	c	SCN055	Secondary Polyarteritis Nodosa	9
1060		CNG337	Congenital Renal Artery Stenosis	9
1061		RNL010	Renal Pelvis Inverted Papilloma	8
1062	c	MLG055	Malignant Cystic Nephroma	8
1063	c	RNR002	Ren-Related Kidney Disease	8
1064		DCT001	Dioctophymiasis	8
1065		RNL106	Renal Dysplasia, Unilateral	8
1066	P	JVN036	Juvenile Sialidosis Type 2	7
1067		KDN011	Kidney Pelvis Sarcomatoid Transitional Cell Carcinoma	7
1068		HRD003	Hereditary Conventional Renal Cell Carcinoma	7
1069		MTC093	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form	7
1070	c	BCK015	Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11	7
1071	c	KDN012	Kidney Carcinoma in Situ	6
1072	c	RNL090	Renal Tubular Dysgenesis Due to Twin-Twin Transfusion	6
1073		IDP097	Idiopathic Non-Lupus Full-House Nephropathy	6
1074	c	ATS111	Autosomal Dominant Proximal Renal Tubular Acidosis	5
1075		DRG019	Drug-Related Renal Tubular Dysgenesis	5
1076		RRR011	Rare Renal Tubular Disease	5
1077		INF035	Infiltrating Renal Pelvis Transitional Cell Carcinoma	4
1078	c	BLT012	Bilateral Renal Agenesis Dominant Type	4
1079		IDP098	Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy	4
1080		NNS058	Non-Syndromic Renal or Urinary Tract Malformation	4
1081		BCK016	Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication	3
1082		URN009	Urinary System Disease	48
1083		VSC006	Vascular Cancer	51
1084		PRT010	Parathyroid Carcinoma	66
1085		GLT007	Glutathione Synthetase Deficiency	46
1086	P	NNN008	Noonan Syndrome 1	76
1087	c	GLY008	Glycogen Storage Disease Ii	70
1088	P	TMP003	Temporal Arteritis	67
1089	c	CHR684	Chronic Kidney Disease	66
1090		CHR103	Charge Syndrome	66
1091		GTL001	Gitelman Syndrome	66
1092		DBT091	Diabetes Insipidus, Nephrogenic, Autosomal	66
1093	P	CHR071	Charcot-Marie-Tooth Disease	64
1094	P	CRN108	Cranioectodermal Dysplasia 1	62
1095	P	BCK002	Beckwith-Wiedemann Syndrome	62
1096	c	ALP101	Alpha-Thalassemia	62
1097	P	PRP029	Porphyria	61
1098	c	BRN108	Branchiootic Syndrome 1	61
1099	P	KDN017	Kidney Cancer	61
1100		HJD001	Hajdu-Cheney Syndrome	60
1101		DBN001	Dubin-Johnson Syndrome	59
1102	c	GLY003	Glycogen Storage Disease Iii	58
1103		LCT022	Lecithin:cholesterol Acyltransferase Deficiency	58
1104	P	FCL005	Focal Segmental Glomerulosclerosis	58
1105		MYR002	Mayer-Rokitansky-Kuster-Hauser Syndrome	58
1106	P	SNR003	Senior-Loken Syndrome 1	57
1107	P	PLY041	Polymyositis	57
1108		PLY023	Polycystic Liver Disease	57
1109	c	AML044	Amelogenesis Imperfecta, Type Ig	56
1110		FRC011	Fructose Intolerance, Hereditary	56
1111		GRN034	Grange Syndrome	55
1112		FRS002	Frasier Syndrome	53
1113	P	RNL017	Renal Oncocytoma	53
1114	P	HYP210	Hypomagnesemia 2, Renal	51
1115		MCR088	Microscopic Polyangiitis	51
1116	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	51
1117	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
1118	c	XNT010	Xanthinuria, Type I	50
1119		MTH078	Methylmalonic Aciduria, Cblb Type	50
1120	P	RBN002	Robinow Syndrome	49
1121	c	PSD112	Pseudohypoaldosteronism, Type I, Autosomal Dominant	49
1122		MYL003	Myeloid Sarcoma	49
1123		MTH076	Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency	49
1124		HMG002	Hemoglobinuria	49
1125		HND004	Hand-Foot-Genital Syndrome	49
1126		DFF035	Diffuse Cutaneous Systemic Sclerosis	48
1127		GLT035	Glutaric Acidemia I	48
1128	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	48
1129	c	HYP794	Hyperoxaluria, Primary, Type I	48
1130		HLX001	Helix Syndrome	47
1131		LMT001	Limited Scleroderma	47
1132		LPD004	Lipoid Nephrosis	47
1133	c	FCL025	Focal Segmental Glomerulosclerosis 1	47
1134	c	BRT042	Bartter Syndrome, Type 3	46
1135	P	HYP733	Hypercalciuria, Absorptive, 2	46
1136	P	TRN034	Transverse Myelitis	46
1137	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	45
1138	c	BRT050	Bartter Syndrome, Type 2, Antenatal	45
1139	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	45
1140	c	ZLL011	Zellweger Spectrum Disorder	44
1141		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	44
1142	c	NPH071	Nephronophthisis 14	44
1143	c	NPH032	Nephronophthisis 4	44
1144	P	HYP758	Hyperuricemic Nephropathy, Familial Juvenile, 1	44
1145		MLT073	Multisystemic Smooth Muscle Dysfunction Syndrome	43
1146	c	CHR376	Charcot-Marie-Tooth Disease, Type 4d	43
1147	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	43
1148		SCH037	Schinzel-Giedion Midface Retraction Syndrome	43
1149		RNL025	Renal Hypoplasia	43
1150		ARC002	Arachnoiditis	42
1151	P	HYP761	Hypouricemia, Renal, 1	42
1152		HYP827	Hypomagnesemia 5, Renal, with or Without Ocular Involvement	42
1153	c	ATS082	Autosomal Dominant Robinow Syndrome	41
1154	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	41
1155	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	41
1156	c	GLL038	Galloway-Mowat Syndrome 1	41
1157	c	NPH102	Nephrotic Syndrome, Type 14	40
1158		SRC002	Sarcomatoid Renal Cell Carcinoma	40
1159	c	CHR371	Charcot-Marie-Tooth Disease, Dominant Intermediate C	40
1160		LGH004	Light Chain Deposition Disease	40
1161	c	NPH065	Nephronophthisis 13	40
1162	c	NPH072	Nephrotic Syndrome, Type 7	39
1163		CHL010	Childhood Kidney Cell Carcinoma	39
1164	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	39
1165		CHR583	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	39
1166	P	HYP111	Hyperprolinemia	39
1167	c	ACT159	Acute Transverse Myelitis	38
1168		RHY001	Rhyns Syndrome	38
1169	c	AML017	Amelogenesis Imperfecta, Type Ib	38
1170	c	NPH075	Nephronophthisis 18	38
1171	c	PSD092	Pseudohypoaldosteronism, Type Iie	38
1172		2MT003	2-Methylbutyryl-Coa Dehydrogenase Deficiency	37
1173		GNT179	Genetic Steroid-Resistant Nephrotic Syndrome	37
1174	c	AML061	Amelogenesis Imperfecta, Type Ie	36
1175	P	RNL059	Renal-Hepatic-Pancreatic Dysplasia	35
1176	P	MDL008	Medullary Cystic Kidney Disease 1	35
1177	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	35
1178	c	AML047	Amelogenesis Imperfecta, Type Ia	34
1179	c	HYP302	Hypomagnesemia 4, Renal	34
1180	c	RNL046	Renal Tubular Acidosis, Distal, Autosomal Dominant	34
1181	c	GLY057	Glycogen Storage Disease X	34
1182	c	FCL043	Focal Segmental Glomerulosclerosis 6	34
1183		PLY158	Polyglucosan Body Neuropathy, Adult Form	33
1184	c	NNN025	Noonan Syndrome 10	33
1185	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	33
1186	c	AML050	Amelogenesis Imperfecta, Type if	33
1187		TRL002	Tarlov Cysts	32
1188	c	HYP248	Hyperprolinemia, Type I	32
1189	c	CHR481	Charcot-Marie-Tooth Disease, Dominant Intermediate D	32
1190	c	CHR025	Charcot-Marie-Tooth Disease Intermediate Type	32
1191	c	HYP597	Hyperprolinemia, Type Ii	31
1192		GLT011	Glutamine Deficiency, Congenital	31
1193	c	FCL085	Focal Segmental Glomerulosclerosis 7	31
1194	P	HRD009	Hereditary Wilms' Tumor	31
1195		KDN016	Kidney Benign Neoplasm	30
1196		CYS046	Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type	30
1197	c	ORF036	Orofaciodigital Syndrome Xiv	30
1198		RNL018	Renal Pelvis Carcinoma	30
1199		RNL039	Renal Dysplasia-Limb Defects Syndrome	29
1200		MLT165	Multilocular Cystic Renal Neoplasm of Low Malignant Potential	29
1201	c	ORF043	Orofaciodigital Syndrome Ix	29
1202	c	CHR699	Charcot-Marie-Tooth Disease Type 2a2a	28
1203	c	MDL021	Medullary Cystic Kidney Disease 2	28
1204	c	WLM005	Wilms Tumor 2	28
1205	c	CHR480	Charcot-Marie-Tooth Disease, Recessive Intermediate C	27
1206		KDN019	Kidney Sarcoma	27
1207	c	JVN019	Juvenile Temporal Arteritis	27
1208	c	SYS066	Systemic Polyarteritis Nodosa	27
1209		BFD002	Bifid Nose with or Without Anorectal and Renal Anomalies	27
1210	c	GLY023	Glycogen Storage Disease Type 0	27
1211		KHN002	Khan-Khan-Katsanis Syndrome	26
1212		NRS001	Neuroschistosomiasis	26
1213		3HY001	3-Hydroxyisobutyric Aciduria	26
1214	c	MCK028	Meckel Syndrome 13	26
1215		URC005	Urachal Cyst	25
1216	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	25
1217	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
1218		CLR112	Clear Cell Papillary Renal Cell Carcinoma	25
1219	c	ART063	Arthrogryposis, Renal Dysfunction, and Cholestasis 2	25
1220	c	ORF042	Orofaciodigital Syndrome Xi	25
1221	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	25
1222	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	24
1223	c	ORF052	Orofaciodigital Syndrome Xviii	24
1224	c	SNR015	Senior-Loken Syndrome 8	24
1225	c	JBR047	Joubert Syndrome 35	24
1226		THV001	Thauvin-Robinet-Faivre Syndrome	24
1227		ARD001	Aredyld	24
1228		RNL089	Renal Nutcracker Syndrome	23
1229		LGH017	Leigh Syndrome with Nephrotic Syndrome	23
1230		OCL073	Oculoskeletodental Syndrome	23
1231	c	BRT049	Bartter Syndrome, Type 5, Antenatal, Transient	22
1232	c	SNR005	Senior-Loken Syndrome 5	22
1233	c	AML048	Amelogenesis Imperfecta, Type Ih	22
1234	P	HYP834	Hypomagnesemia, Seizures, and Mental Retardation 2	22
1235	c	VSC025	Vesicoureteral Reflux 3	21
1236	c	AML059	Amelogenesis Imperfecta, Type Ij	21
1237	c	HYP830	Hypomagnesemia, Seizures, and Mental Retardation 1	20
1238		FBL018	Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities	20
1239		INF164	Infantile Bartter Syndrome with Sensorineural Deafness	20
1240	c	ATS272	Autosomal Dominant Intermediate Charcot-Marie-Tooth	19
1241	c	SYS041	Systemic Lupus Erythematosus 9	19
1242		UNL014	Unilateral Multicystic Dysplastic Kidney	19
1243		ESN003	Eosinophilic Variant of Chromophobe Renal Cell Carcinoma	19
1244		THY044	Thymic-Renal-Anal-Lung Dysplasia	18
1245	c	ATS311	Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related	18
1246		FTL074	Fetal Lower Urinary Tract Obstruction	18
1247	c	AML064	Amelogenesis Imperfecta, Type Iiic	18
1248	c	WLM017	Wilms Tumor 4	18
1249	c	SYS048	Systemic Lupus Erythematosus 8	18
1250	c	SYS065	Systemic Lupus Erythematosus 11	17
1251		DYS180	Dyschondrosteosis and Nephritis	17
1252	c	HYP529	Hyperuricemic Nephropathy, Familial Juvenile, 3	17
1253	c	LDD009	Liddle Syndrome 3	17
1254	c	SYS055	Systemic Lupus Erythematosus 12	17
1255		AFB003	Afib Amyloidosis	16
1256	c	SYS047	Systemic Lupus Erythematosus 7	16
1257	c	HYP809	Hypercalciuria, Absorptive, 1	16
1258	c	SYS067	Systemic Lupus Erythematosus 15	15
1259	c	RR2001	Ror2-Related Robinow Syndrome	14
1260	c	VSC043	Vesicoureteral Reflux 6	14
1261		KDN008	Kidney Pelvis Papillary Carcinoma	14
1262		RNL109	Renal Hypoplasia, Bilateral	14
1263		KDN010	Kidney Osteogenic Sarcoma	14
1264	c	ORF006	Orofaciodigital Syndrome 13	13
1265	c	ATS165	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g	13
1266		TBL026	Tubulocystic Renal Cell Carcinoma	13
1267		ACQ048	Acquired Cystic Disease-Associated Renal Cell Carcinoma	12
1268		GNR029	Generalized Galactose Epimerase Deficiency	12
1269		DNT019	Daentl Towsend Siegel Syndrome	12
1270	c	LTN020	Late-Onset Nephronophthisis	11
1271		RNL107	Renal Dysplasia, Bilateral	10
1272	c	HYP799	Hypouricemia, Familial Renal, Due to Tubular Hypersecretion	10
1273	c	FML094	Familial Wilms Tumor 2	9
1274		CHL032	Childhood Multilocular Cystic Kidney Neoplasm	8
1275		SNG013	Single-Organ Polyarteritis Nodosa	8
1276		RNL108	Renal Hypoplasia, Unilateral	8
1277		NNM003	Non-Amyloid Monoclonal Immunoglobulin Deposition Disease	8
1278	c	ALP107	Alpha-Thalassemia and Related Diseases	7
1279	c	SCN040	Secondary Acute Transverse Myelitis	6
1280		HYP492	Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation	6
1281	c	BTT015	Beta-Thalassemia and Related Diseases	5
1282		SYN141	Syndromic Renal or Urinary Tract Malformation	4
1283		CLS003	Classic Variant of Chromophobe Renal Cell Carcinoma	4
1284		ADL092	Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome	4
1285	c	FML358	Familial Cystic Renal Disease	3
1286		INH026	Inherited Renal Cancer-Predisposing Syndrome	3
1287		NPH110	Nephropathy Secondary to a Storage or Other Metabolic Disease	3
1288		HMT022	Hematological Disorder with Renal Involvement	3
1289	c	SYS001	Systemic Lupus Erythematosus	86
1290		VNH007	Von Hippel-Lindau Syndrome	73
1291	c	BTT014	Beta-Thalassemia	72
1292	P	OST001	Osteopetrosis	71
1293		SMT004	Smith-Lemli-Opitz Syndrome	69
1294	P	LVR013	Liver Disease	68
1295		LWC002	Lowe Oculocerebrorenal Syndrome	66
1296	c	HRD010	Hereditary Spastic Paraplegia	66
1297		GLC006	Galactosemia	65
1298	P	MCH002	Machado-Joseph Disease	63
1299		ELL001	Ellis-Van Creveld Syndrome	62
1300		WLL001	Williams-Beuren Syndrome	62
1301	P	DRM010	Dermatomyositis	61
1302	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	61
1303	P	LPS004	Lupus Erythematosus	61
1304	c	GLY004	Glycogen Storage Disease V	61
1305	P	DNT020	Dent Disease 1	60
1306		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	60
1307	P	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	60
1308	c	VSC019	Vesicoureteral Reflux 1	59
1309		MXD005	Mixed Connective Tissue Disease	59
1310	P	FML052	Familial Cold Autoinflammatory Syndrome	59
1311	P	INT070	Intestinal Obstruction	58
1312	P	NPH005	Nephronophthisis	58
1313	c	GLY007	Glycogen Storage Disease Iv	58
1314		APP015	Apparent Mineralocorticoid Excess	58
1315	c	FRS014	Fraser Syndrome 1	58
1316		BRG013	Buerger Disease	57
1317	P	URF003	Urofacial Syndrome 1	57
1318		CPR004	Coproporphyria, Hereditary	57
1319	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	57
1320		BLR008	Bilirubin Metabolic Disorder	57
1321	c	RBN021	Rubinstein-Taybi Syndrome 1	56
1322	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	56
1323	c	INT072	Intestinal Pseudo-Obstruction	56
1324	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	56
1325		CHR177	Chromophobe Renal Cell Carcinoma	56
1326		PPL048	Papillorenal Syndrome	55
1327	c	FML116	Familial Cold Autoinflammatory Syndrome 1	55
1328		MLT161	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly	55
1329	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	55
1330		HNC001	Henoch-Schoenlein Purpura	54
1331	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	54
1332		CLL002	Collecting Duct Carcinoma	53
1333	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	53
1334		CLR030	Clear Cell Renal Cell Carcinoma	53
1335		ADN024	Adenine Phosphoribosyltransferase Deficiency	52
1336	c	GLY005	Glycogen Storage Disease Vi	51
1337		CYS036	Cystinosis, Nephropathic	51
1338		SCR020	Sacral Defect with Anterior Meningocele	51
1339	c	ACT134	Acute Liver Failure	51
1340	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	50
1341	c	INF145	Infantile Liver Failure Syndrome 1	50
1342	c	MCK032	Meckel Syndrome, Type 3	49
1343	c	MGL018	Megaloblastic Anemia 1	48
1344	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	48
1345	c	NPH049	Nephrotic Syndrome, Type 2	48
1346		GLC011	Galactose Epimerase Deficiency	48
1347	c	HYP534	Hypomagnesemia 3, Renal	48
1348		CMP042	Complement Factor H Deficiency	47
1349	c	CHR422	Charcot-Marie-Tooth Disease, Dominant Intermediate B	47
1350		RYN003	Reynolds Syndrome	47
1351	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	47
1352	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	47
1353	c	BRD032	Bardet-Biedl Syndrome 14	46
1354	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	46
1355		PRM237	Primary Hypomagnesemia	46
1356	c	FML253	Familial Cold Autoinflammatory Syndrome 3	45
1357	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	45
1358	P	BRN006	Branchiootorenal Syndrome	45
1359	c	JBR011	Joubert Syndrome 7	45
1360		DNB001	Danubian Endemic Familial Nephropathy	45
1361	c	GLY098	Glycogen Storage Disease, Type Ixd	45
1362	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	45
1363		RNL119	Renal Cell Carcinoma, Xp11-Associated	45
1364	c	RNL122	Renal Hypodysplasia/aplasia 3	44
1365	c	BRD033	Bardet-Biedl Syndrome 13	44
1366	c	ORF033	Orofaciodigital Syndrome V	44
1367	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	43
1368	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	43
1369	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	43
1370	P	BRT053	Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness	42
1371	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	42
1372		TRN021	Transaldolase Deficiency	42
1373	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	42
1374	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	42
1375	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
1376	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	42
1377	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	42
1378	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	42
1379		BLD129	Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex	42
1380	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	41
1381	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	41
1382	c	FML117	Familial Cold Autoinflammatory Syndrome 2	41
1383	P	DST107	Distal Renal Tubular Acidosis	41
1384	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	41
1385	P	BRN042	Branchiootic Syndrome	41
1386	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	41
1387	c	RNL047	Renal Tubular Acidosis, Distal, Autosomal Recessive	41
1388	c	FML015	Familial Nephrotic Syndrome	41
1389	P	HRD086	Hereditary Hypophosphatemic Rickets	40
1390	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	40
1391	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	40
1392	c	BRD021	Bardet-Biedl Syndrome 9	40
1393	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	40
1394		KDN007	Kidney Clear Cell Sarcoma	40
1395	c	GLY016	Glycogen Storage Disease Ib	40
1396	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	40
1397	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	40
1398	c	NNN021	Noonan Syndrome 8	40
1399	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	40
1400	c	HYP602	Hyperoxaluria, Primary, Type Ii	39
1401	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	39
1402	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	39
1403	c	GLY009	Glycogen Storage Disease Xv	39
1404	c	NPH077	Nephronophthisis 19	39
1405	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	39
1406	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	38
1407	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	38
1408	c	CNG379	Congenital Disorder of Glycosylation, Type It	38
1409	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
1410	c	GLY044	Glycogen Storage Disease Ixc	37
1411	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	37
1412	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	36
1413	c	CRN109	Cranioectodermal Dysplasia 2	36
1414		EPL199	Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure	36
1415		HYP249	Hyperthyroidism, Nonautoimmune	36
1416	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	36
1417		TTH004	Tethered Spinal Cord Syndrome	35
1418	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	35
1419	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	35
1420	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	35
1421	P	BTR001	Botryoid Rhabdomyosarcoma	35
1422	c	JVN041	Juvenile Nephronophthisis	35
1423	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	35
1424	c	OST106	Osteopetrosis, Autosomal Recessive 8	34
1425	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	34
1426	P	GLM015	Glomerulopathy with Fibronectin Deposits 2	34
1427		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	34
1428	c	SPS021	Spastic Paraplegia 10	33
1429	c	LVR030	Liver Failure, Infantile, Transient	33
1430	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	33
1431	c	OST125	Osteopetrosis, Autosomal Dominant 1	33
1432	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	32
1433		PRT094	Protoporphyria, Erythropoietic, X-Linked	32
1434		MLL021	Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies	32
1435	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
1436	c	SPS013	Spastic Paraplegia 8	32
1437		FML029	Familial Renal Papillary Carcinoma	31
1438	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
1439	c	GLY043	Glycogen Storage Disease Xii	31
1440	c	ATS015	Autosomal Dominant Alport Syndrome	31
1441	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
1442	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	30
1443	c	ADL027	Adult Dermatomyositis	30
1444	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	30
1445	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	30
1446	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
1447	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	30
1448	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	30
1449	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	30
1450	c	SPS025	Spastic Paraplegia 15	30
1451	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	30
1452		BTT013	Beta-Thalassemia, Dominant Inclusion Body Type	30
1453	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	29
1454	c	HYP708	Hyperaldosteronism, Familial, Type Iv	29
1455	c	SPS091	Spastic Paraplegia 4	29
1456		ATM086	Autoimmune Interstitial Lung, Joint, and Kidney Disease	29
1457		IDP085	Idiopathic Infantile Hypercalcemia	29
1458	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	29
1459	c	CHR514	Charcot-Marie-Tooth Disease, Recessive Intermediate D	28
1460		HYP652	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	28
1461	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
1462		FRC005	Fructosuria, Essential	28
1463	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
1464		CTN019	Cutaneous Polyarteritis Nodosa	28
1465		RNL120	Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation	27
1466	c	INF138	Infantile Liver Failure Syndrome 2	27
1467		VNT030	Ventriculomegaly with Cystic Kidney Disease	27
1468	P	SPS012	Spastic Paraplegia 3a	26
1469	c	HRD186	Hereditary Spastic Paraplegia 51	26
1470	c	HRD219	Hereditary Distal Renal Tubular Acidosis	26
1471	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
1472	c	RNL095	Renal-Hepatic-Pancreatic Dysplasia 2	26
1473	c	GLY093	Glycogen Storage Disease Ixa	26
1474	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	26
1475	c	SPS041	Spastic Paraplegia 6	25
1476	c	HML034	Hemolytic Uremic Syndrome, Atypical 3	25
1477	c	GLY059	Glycogen Storage Disease Xiii	25
1478	c	NPH073	Nephrotic Syndrome, Type 8	25
1479	c	BRN128	Branchiootic Syndrome 3	25
1480	c	CHR676	Charcot-Marie-Tooth Disease, Dominant Intermediate G	25
1481	c	SPS027	Spastic Paraplegia 17	25
1482		RNL009	Renal Pelvis Squamous Cell Carcinoma	25
1483		THY065	Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia	24
1484	c	HRD188	Hereditary Spastic Paraplegia 72	24
1485	c	VSC046	Vesicoureteral Reflux 8	23
1486	c	FRS015	Fraser Syndrome 3	23
1487	c	FML270	Familial Cold Autoinflammatory Syndrome 4	23
1488	c	GLY006	Glycogen Storage Disease Viii	23
1489	c	MCK020	Meckel Syndrome, Type 11	23
1490	c	VSC020	Vesicoureteral Reflux 2	22
1491	c	SPS042	Spastic Paraplegia 9	22
1492	c	BLC018	Bile Acid Synthesis Defect, Congenital, 6	22
1493	c	ATS312	Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related	22
1494	c	HRD210	Hereditary Spastic Paraplegia 23	21
1495	c	SPS038	Spastic Paraplegia 39	21
1496	c	SPS023	Spastic Paraplegia 13	20
1497	c	FML028	Familial Renal Oncocytoma	20
1498	c	NPH093	Nephrotic Syndrome, Type 13	20
1499	c	BRN073	Branchiootic Syndrome 2	20
1500	c	SPS022	Spastic Paraplegia 12	19
1501		BRK013	Birk-Landau-Perez Syndrome	19
1502	c	SPS028	Spastic Paraplegia 18	19
1503	c	SPS034	Spastic Paraplegia 26	18
1504		ANR044	Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation	18
1505		FML327	Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis	18
1506	c	MCH013	Machado-Joseph Disease Type 3	17
1507	c	MCH012	Machado-Joseph Disease Type 1	17
1508	c	MCH014	Machado-Joseph Disease Type 2	17
1509	c	RNL034	Renal Cell Carcinoma 4	17
1510	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
1511	c	SPS032	Spastic Paraplegia 24	17
1512	c	INF190	Infantile Liver Failure Syndrome 3	16
1513		DBT089	Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification	16
1514	c	SYS052	Systemic Lupus Erythematosus 13	16
1515		APM002	Aapoai Amyloidosis	16
1516	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	15
1517		CNG532	Congenital Vertebral-Cardiac-Renal Anomalies Syndrome	15
1518		APM001	Aapoaii Amyloidosis	15
1519	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
1520	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	15
1521	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	15
1522	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	15
1523	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	15
1524	c	OLV005	Olivopontocerebellar Atrophy V	15
1525	c	SPS035	Spastic Paraplegia 29	15
1526	c	SPS024	Spastic Paraplegia 14	15
1527	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	14
1528	c	SPS161	Spastic Paraplegia 32	14
1529	c	SPS033	Spastic Paraplegia 25	13
1530	c	SPS165	Spastic Paraplegia 47	13
1531		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	13
1532	c	SPS026	Spastic Paraplegia 16	13
1533	c	OLV006	Olivopontocerebellar Atrophy Ii, Autosomal Recessive	12
1534	c	SPS230	Spastic Paraplegia Type 49	12
1535	c	CHR571	Charcot-Marie-Tooth Disease Type 5	11
1536		RNL032	Renal Caliceal Diverticuli Deafness	10
1537	c	SPS040	Spastic Paraplegia 5b	9
1538	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	9
1539	P	RBN007	Rubinstein Taybi Like Syndrome	8
1540	c	ADL031	Adult Botryoid Rhabdomyosarcoma	7
1541		RNL065	Renal Cell Carcinoma, Papillary, 1	73
1542		FBR012	Fabry Disease	71
1543		WLS001	Wilson Disease	70
1544		BHC003	Behcet Syndrome	70
1545	P	ALP004	Alport Syndrome	68
1546	P	PSD087	Pseudoxanthoma Elasticum	67
1547		FCT007	Factor Vii Deficiency	66
1548	P	PLY168	Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease	65
1549	P	TRN020	Turner Syndrome	65
1550		GRN037	Granulomatosis with Polyangiitis	64
1551		PLL001	Pallister-Hall Syndrome	64
1552		DGR001	Digeorge Syndrome	63
1553	c	PLY170	Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease	63
1554	P	NPH012	Nephrotic Syndrome	63
1555	c	SCL052	Scleroderma, Familial Progressive	62
1556		ALS001	Alstrom Syndrome	62
1557		BRT002	Birt-Hogg-Dube Syndrome	62
1558	c	HYP731	Hyperaldosteronism, Familial, Type I	60
1559	P	PRX003	Paroxysmal Nocturnal Hemoglobinuria	60
1560	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	59
1561	P	LDD007	Liddle Syndrome 1	59
1562		HYP257	Hypoparathyroidism, Sensorineural Deafness, and Renal Disease	58
1563		AMY082	Amyloidosis, Familial Visceral	57
1564		DNY001	Denys-Drash Syndrome	57
1565		FNC009	Fanconi-Bickel Syndrome	56
1566	c	PLY172	Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease	55
1567		GDP001	Goodpasture Syndrome	55
1568	c	OST131	Osteopetrosis, Autosomal Dominant 2	54
1569		CNN011	Cenani-Lenz Syndactyly Syndrome	54
1570		MTH054	Methylmalonic Aciduria and Homocystinuria, Cblc Type	53
1571		PRS055	Pierson Syndrome	52
1572	P	HML001	Hemolytic-Uremic Syndrome	52
1573	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	51
1574	P	GNT009	Giant Axonal Neuropathy	51
1575	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	51
1576	c	ORF040	Orofaciodigital Syndrome Viii	50
1577		PTS001	Patau Syndrome	49
1578	c	GNT049	Giant Axonal Neuropathy 1, Autosomal Recessive	48
1579	c	BLC008	Bile Acid Synthesis Defect, Congenital, 2	48
1580	c	CHR517	Charcot-Marie-Tooth Disease, Type 4a	48
1581	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	46
1582		ARM010	Arima Syndrome	46
1583	c	CHR420	Charcot-Marie-Tooth Disease, Type 4j	46
1584	c	CHR521	Charcot-Marie-Tooth Disease, Type 4b1	45
1585		FSH001	Fish-Eye Disease	45
1586	c	MCK012	Meckel Syndrome, Type 6	45
1587	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	45
1588	c	HRD039	Hereditary Amyloidosis	45
1589	c	BLC007	Bile Acid Synthesis Defect, Congenital, 1	44
1590	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	44
1591	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	43
1592	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	43
1593	c	VNM003	Van Maldergem Syndrome 1	42
1594	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	42
1595	c	BRD044	Bardet-Biedl Syndrome 17	42
1596	c	PLY171	Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease	42
1597	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	42
1598	c	TYR011	Tyrosinemia, Type Iii	42
1599	c	BRN131	Branchiootorenal Syndrome 1	42
1600	c	CHR522	Charcot-Marie-Tooth Disease, Dominant Intermediate E	41
1601	c	NNN009	Noonan Syndrome 2	40
1602	c	BLC011	Bile Acid Synthesis Defect, Congenital, 3	39
1603	c	CNG002	Congenital Bile Acid Synthesis Defect	39
1604	c	NPH054	Nephrotic Syndrome, Type 3	39
1605	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	38
1606	c	SYS043	Systemic Lupus Erythematosus 1	38
1607		MTH055	Methylmalonic Aciduria and Homocystinuria, Cbld Type	37
1608		VRH001	Verheij Syndrome	36
1609	c	CHR658	Charcot-Marie-Tooth Disease, Recessive Intermediate a	36
1610	c	BLC009	Bile Acid Synthesis Defect, Congenital, 4	34
1611	c	RNL113	Renal Failure, Progressive, with Hypertension	34
1612	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	33
1613	c	NNN024	Noonan Syndrome 9	32
1614	c	HYP438	Hyperaldosteronism, Familial, Type Iii	32
1615	c	RNL092	Renal-Hepatic-Pancreatic Dysplasia 1	32
1616	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	31
1617	c	FML324	Familial Porphyria Cutanea Tarda	30
1618		MCP039	Mucoepithelial Dysplasia, Hereditary	30
1619	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	25
1620	c	GNT040	Giant Axonal Neuropathy 2, Autosomal Dominant	24
1621	c	ORF051	Orofaciodigital Syndrome Xvii	24
1622	c	ORF039	Orofaciodigital Syndrome Vii	22
1623	c	NPH108	Nephrotic Syndrome, Type 20	22
1624	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	22
1625	c	SYS069	Systemic Lupus Erythematosus 6	21
1626	c	SYS040	Systemic Lupus Erythematosus 10	21
1627	c	SYS046	Systemic Lupus Erythematosus 3	21
1628	c	NPH107	Nephrotic Syndrome, Type 19	21
1629	P	DSR081	Disorder of Bile Acid Synthesis	21
1630		ATH012	Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	20
1631	c	BLC016	Bile Acid Synthesis Defect, Congenital, 5	19
1632	c	SYS051	Systemic Lupus Erythematosus 4	19
1633	c	NPH111	Nephrotic Syndrome, Type 21	19
1634		NPH082	Nephrosis with Deafness and Urinary Tract and Digital Malformations	15
1635	c	SYS045	Systemic Lupus Erythematosus 14	15
1636		CNT103	Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	13
1637	c	GNT045	Giant Axonal Neuropathy 2	12
1638	c	CHR700	Charcot-Marie-Tooth Disease Type 2a2b	11
1639	c	CHR701	Charcot-Marie-Tooth Disease Type 1g	9
1640		MYL069	Myeloma, Multiple	85
1641	P	TBR001	Tuberous Sclerosis	70
1642	P	SYS005	Systemic Scleroderma	69
1643	P	BRD002	Bardet-Biedl Syndrome	66
1644	c	RHB024	Rhabdomyosarcoma 2	65
1645	P	RHB008	Rhabdoid Tumor Predisposition Syndrome 1	65
1646	c	WLM013	Wilms Tumor 1	65
1647	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	64
1648		RHB001	Rhabdoid Cancer	63
1649	P	RHB003	Rhabdomyosarcoma	62
1650		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	62
1651	c	BRD010	Bardet-Biedl Syndrome 1	61
1652		NLP001	Nail-Patella Syndrome	60
1653		PRL032	Perlman Syndrome	58
1654		PRN038	Prune Belly Syndrome	55
1655	c	BRD011	Bardet-Biedl Syndrome 10	54
1656	c	ALM001	Al Amyloidosis	50
1657		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	50
1658	c	BRD012	Bardet-Biedl Syndrome 11	50
1659		GLC106	Glucocorticoid Resistance, Generalized	48
1660	c	JBR004	Joubert Syndrome 2	47
1661	c	MCK033	Meckel Syndrome, Type 4	46
1662	c	BRD047	Bardet-Biedl Syndrome 16	44
1663	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	44
1664	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	44
1665		FMR004	Fumarase Deficiency	41
1666	c	MCK034	Meckel Syndrome, Type 8	41
1667		BTR002	Beta-Ureidopropionase Deficiency	41
1668	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	41
1669	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	40
1670	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	39
1671	c	PSD117	Pseudohypoparathyroidism, Type Ic	38
1672	c	RBN008	Rubinstein-Taybi Syndrome 2	33
1673	c	BRD050	Bardet-Biedl Syndrome 21	28
1674	c	RHB011	Rhabdoid Tumor Predisposition Syndrome 2	28
1675	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	26
1676	c	NPH105	Nephrotic Syndrome, Type 17	24
1677	c	NPH070	Nephrotic Syndrome, Type 6	24
1678	c	GLL047	Galloway-Mowat Syndrome 8	22
1679	c	ORF045	Orofaciodigital Syndrome Xv	22
1680	c	NPH104	Nephrotic Syndrome, Type 16	20
1681		NPH014	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	20
1682		OCL043	Oculorenocerebellar Syndrome	20
1683		ICH068	Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment	18
1684	c	CLC009	Clcn7-Related Osteopetrosis	15
1685	P	LYN001	Lynch Syndrome	77
1686	c	MCP050	Mucopolysaccharidosis, Type Ii	71
1687	c	MCP052	Mucopolysaccharidosis, Type Vi	67
1688	P	PRP003	Porphyria Cutanea Tarda	67
1689	c	TYR012	Tyrosinemia, Type I	67
1690	c	NRP054	Neuropathy, Hereditary Sensory and Autonomic, Type Iii	66
1691	c	NRP053	Neuropathy, Hereditary Sensory and Autonomic, Type Iia	66
1692	c	MCP001	Mucopolysaccharidosis Iii	65
1693	P	MCK013	Meckel Syndrome, Type 1	65
1694	P	PLR004	Pleuropulmonary Blastoma	65
1695	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	64
1696		PRP083	Porphyria, Acute Intermittent	63
1697		MCK007	Muckle-Wells Syndrome	63
1698	c	MCP049	Mucopolysaccharidosis, Type Vii	63
1699		NRM019	Neuraminidase Deficiency	62
1700	c	WLM018	Wilms Tumor 5	62
1701	c	LCL006	Localized Scleroderma	62
1702	c	PRX045	Peroxisome Biogenesis Disorder 1b	61
1703		CHL028	Childhood Type Dermatomyositis	60
1704	c	MCP004	Mucopolysaccharidosis Iv	58
1705	c	LYN004	Lynch Syndrome I	58
1706	P	TYR004	Tyrosinemia	58
1707		RNL024	Renal Glucosuria	57
1708	c	PRX059	Peroxisome Biogenesis Disorder 1a	57
1709	c	NRP037	Neuropathy, Hereditary Sensory and Autonomic, Type V	56
1710	P	TWN003	Townes-Brocks Syndrome	55
1711	c	MCP043	Mucopolysaccharidosis, Type Iiia	54
1712	P	RNL028	Renal Tubular Dysgenesis	50
1713	c	MCP047	Mucopolysaccharidosis, Type Iva	49
1714	c	MCP044	Mucopolysaccharidosis, Type Iiib	48
1715	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	46
1716	c	TYR013	Tyrosinemia, Type Ii	46
1717	c	MCK031	Meckel Syndrome, Type 2	46
1718	c	NRP031	Neuropathy, Hereditary Sensory and Autonomic, Type Vii	46
1719	c	NRP044	Neuropathy, Hereditary Sensory and Autonomic, Type Viii	44
1720	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	43
1721	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	43
1722	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	43
1723	P	GLL032	Galloway-Mowat Syndrome	42
1724	c	HRD201	Hereditary Sensory and Autonomic Neuropathy Type 1	41
1725		GRC001	Gracile Syndrome	40
1726	c	ATS018	Autosomal Recessive Alport Syndrome	40
1727	c	MCP045	Mucopolysaccharidosis, Type Iiic	40
1728	c	NNN012	Noonan Syndrome 5	39
1729	c	NRP018	Neuropathy, Hereditary Sensory and Autonomic, Type Iib	39
1730	c	MCP051	Mucopolysaccharidosis, Type Ix	39
1731	c	MCP048	Mucopolysaccharidosis, Type Ivb	38
1732	c	BRD045	Bardet-Biedl Syndrome 19	38
1733	c	BRD017	Bardet-Biedl Syndrome 5	37
1734	c	NRP038	Neuropathy, Hereditary Sensory and Autonomic, Type Vi	37
1735		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	36
1736	c	MCP046	Mucopolysaccharidosis, Type Iiid	36
1737		STR094	Stromme Syndrome	36
1738	c	NNN013	Noonan Syndrome 6	35
1739	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	35
1740	c	PRX063	Peroxisome Biogenesis Disorder 2a	33
1741	c	ORF038	Orofaciodigital Syndrome Iii	33
1742	c	PRX055	Peroxisome Biogenesis Disorder 11a	33
1743	c	XLN231	X-Linked Alport Syndrome	33
1744	c	HYP600	Hyperaldosteronism, Familial, Type Ii	32
1745	c	PRX060	Peroxisome Biogenesis Disorder 5a	32
1746	c	PSD104	Pseudohypoparathyroidism, Type Ii	32
1747	c	PRX057	Peroxisome Biogenesis Disorder 4a	31
1748		HYP648	Hypertension and Brachydactyly Syndrome	31
1749	c	PRX051	Peroxisome Biogenesis Disorder 6a	30
1750	c	PRX050	Peroxisome Biogenesis Disorder 9b	30
1751	c	PRX065	Peroxisome Biogenesis Disorder 3a	30
1752	c	PRX043	Peroxisome Biogenesis Disorder 6b	30
1753	c	PRX054	Peroxisome Biogenesis Disorder 12a	29
1754	c	PRX058	Peroxisome Biogenesis Disorder 4b	28
1755	c	PRX053	Peroxisome Biogenesis Disorder 14b	28
1756	c	PRX048	Peroxisome Biogenesis Disorder 10a	28
1757	c	CRN111	Cranioectodermal Dysplasia 4	27
1758	c	PRX046	Peroxisome Biogenesis Disorder 7a	27
1759	c	CRN110	Cranioectodermal Dysplasia 3	27
1760	c	PRX047	Peroxisome Biogenesis Disorder 5b	27
1761	c	PRX066	Peroxisome Biogenesis Disorder 3b	27
1762	c	PRX062	Peroxisome Biogenesis Disorder 8b	25
1763	c	PRX056	Peroxisome Biogenesis Disorder 11b	25
1764	c	SPS092	Spastic Paraplegia 11	25
1765	c	PRX091	Peroxisome Biogenesis Disorder 8a	25
1766	c	GLL045	Galloway-Mowat Syndrome 6	25
1767	c	JBR036	Joubert Syndrome 25	25
1768	c	GLL046	Galloway-Mowat Syndrome 7	25
1769	c	PRX052	Peroxisome Biogenesis Disorder 13a	25
1770	P	PRX064	Peroxisome Biogenesis Disorder 2b	24
1771	c	PRX068	Peroxisome Biogenesis Disorder 7b	24
1772	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
1773	c	PRX089	Peroxisome Biogenesis Disorder 10b	21
1774	c	TRN055	Turner Syndrome Due to Structural X Chromosome Anomalies	18
1775	c	PLR018	Pleuropulmonary Blastoma Type 1	9
1776	c	PLR020	Pleuropulmonary Blastoma Type 3	8
1777	P	ATS271	Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy	8
1778	c	ATS273	Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy	8
1779	c	PLR019	Pleuropulmonary Blastoma Type 2	7
1780	P	FML018	Familial Mediterranean Fever	72
1781	c	EPL184	Epileptic Encephalopathy, Early Infantile, 6	69
1782	P	ERL057	Early Infantile Epileptic Encephalopathy	62
1783	c	ORF037	Orofaciodigital Syndrome I	61
1784		HRD029	Hereditary Leiomyomatosis and Renal Cell Cancer	61
1785	P	PSD015	Pseudohypoparathyroidism	56
1786	c	GLY011	Glycogen Storage Disease Vii	55
1787		SCH016	Schimke Immunoosseous Dysplasia	53
1788	c	EPL037	Epileptic Encephalopathy, Early Infantile, 1	52
1789		MGC002	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	52
1790	c	EPL068	Epileptic Encephalopathy, Early Infantile, 7	50
1791	c	NNN010	Noonan Syndrome 3	50
1792	c	EPL025	Epileptic Encephalopathy, Early Infantile, 2	49
1793	c	EPL029	Epileptic Encephalopathy, Early Infantile, 9	49
1794	c	BRD015	Bardet-Biedl Syndrome 3	47
1795	c	EPL185	Epileptic Encephalopathy, Early Infantile, 39	47
1796	c	ORF035	Orofaciodigital Syndrome Iv	46
1797	c	EPL082	Epileptic Encephalopathy, Early Infantile, 13	45
1798	c	EPL028	Epileptic Encephalopathy, Early Infantile, 5	45
1799	c	EPL027	Epileptic Encephalopathy, Early Infantile, 4	44
1800	c	OST136	Osteopetrosis, Autosomal Recessive 7	43
1801	c	SRC023	Sarcoidosis 2	43
1802	c	MCK030	Meckel Syndrome, Type 7	43
1803	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	43
1804	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	42
1805	c	OST134	Osteopetrosis, Autosomal Recessive 6	42
1806	c	OST129	Osteopetrosis, Autosomal Recessive 2	42
1807	c	BRD019	Bardet-Biedl Syndrome 7	42
1808	c	OST137	Osteopetrosis, Autosomal Recessive 4	42
1809	c	EPL119	Epileptic Encephalopathy, Early Infantile, 17	41
1810	c	EPL038	Epileptic Encephalopathy, Early Infantile, 8	40
1811	c	EPL117	Epileptic Encephalopathy, Early Infantile, 16	39
1812	c	EPL023	Epileptic Encephalopathy, Early Infantile, 11	39
1813	c	EPL024	Epileptic Encephalopathy, Early Infantile, 12	39
1814	c	EPL026	Epileptic Encephalopathy, Early Infantile, 3	39
1815	c	EPL097	Epileptic Encephalopathy, Early Infantile, 14	37
1816	c	EPL169	Epileptic Encephalopathy, Early Infantile, 36	36
1817	c	ALG016	Alagille Syndrome 2	36
1818	c	EPL130	Epileptic Encephalopathy, Early Infantile, 26	36
1819	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	35
1820	c	EPL183	Epileptic Encephalopathy, Early Infantile, 50	35
1821	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	35
1822	c	EPL099	Epileptic Encephalopathy, Early Infantile, 15	35
1823	c	EPL125	Epileptic Encephalopathy, Early Infantile, 24	35
1824		CNZ008	Coenzyme Q10 Deficiency, Primary, 6	33
1825	c	CNG198	Congenital Disorder of Glycosylation, Type Il	33
1826	c	EPL123	Epileptic Encephalopathy, Early Infantile, 23	32
1827	c	EPL156	Epileptic Encephalopathy, Early Infantile, 33	32
1828		INT224	Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital	30
1829	c	EPL181	Epileptic Encephalopathy, Early Infantile, 44	30
1830	c	EPL135	Epileptic Encephalopathy, Early Infantile, 27	29
1831	c	EPL193	Epileptic Encephalopathy, Early Infantile, 35	29
1832	c	EPL172	Epileptic Encephalopathy, Early Infantile, 42	29
1833	c	EPL151	Epileptic Encephalopathy, Early Infantile, 31	28
1834	c	EPL173	Epileptic Encephalopathy, Early Infantile, 47	28
1835	c	EPL189	Epileptic Encephalopathy, Early Infantile, 37	28
1836	c	EPL159	Epileptic Encephalopathy, Early Infantile, 34	28
1837	c	EPL195	Epileptic Encephalopathy, Early Infantile, 53	28
1838	c	EPL127	Epileptic Encephalopathy, Early Infantile, 21	27
1839	c	EPL240	Epileptic Encephalopathy, Early Infantile, 75	27
1840	c	EPL139	Epileptic Encephalopathy, Early Infantile, 28	27
1841	c	EPL182	Epileptic Encephalopathy, Early Infantile, 54	27
1842	c	EPL157	Epileptic Encephalopathy, Early Infantile, 30	27
1843	c	EPL223	Epileptic Encephalopathy, Early Infantile, 64	27
1844	c	EPL102	Epileptic Encephalopathy, Early Infantile, 18	27
1845	c	EPL146	Epileptic Encephalopathy, Early Infantile, 32	26
1846	c	EPL178	Epileptic Encephalopathy, Early Infantile, 51	26
1847	c	EPL179	Epileptic Encephalopathy, Early Infantile, 52	26
1848	c	EPL190	Epileptic Encephalopathy, Early Infantile, 49	26
1849	c	EPL211	Epileptic Encephalopathy, Early Infantile, 56	26
1850	c	EPL233	Epileptic Encephalopathy, Early Infantile, 69	26
1851	c	EPL153	Epileptic Encephalopathy, Early Infantile, 29	26
1852	c	EPL191	Epileptic Encephalopathy, Early Infantile, 48	26
1853	c	EPL194	Epileptic Encephalopathy, Early Infantile, 55	26
1854	c	EPL180	Epileptic Encephalopathy, Early Infantile, 41	26
1855	c	EPL126	Epileptic Encephalopathy, Early Infantile, 19	26
1856	c	EPL234	Epileptic Encephalopathy, Early Infantile, 70	26
1857	c	EPL221	Epileptic Encephalopathy, Early Infantile, 62	25
1858	c	EPL175	Epileptic Encephalopathy, Early Infantile, 43	25
1859	c	EPL224	Epileptic Encephalopathy, Early Infantile, 65	25
1860	c	EPL232	Epileptic Encephalopathy, Early Infantile, 68	25
1861	c	EPL229	Epileptic Encephalopathy, Early Infantile, 67	25
1862	c	EPL176	Epileptic Encephalopathy, Early Infantile, 46	25
1863	c	EPL216	Epileptic Encephalopathy, Early Infantile, 59	25
1864	c	EPL222	Epileptic Encephalopathy, Early Infantile, 63	25
1865	c	EPL241	Epileptic Encephalopathy, Early Infantile, 76	24
1866	c	EPL174	Epileptic Encephalopathy, Early Infantile, 45	24
1867	c	EPL246	Epileptic Encephalopathy, Early Infantile, 80	24
1868	c	EPL235	Epileptic Encephalopathy, Early Infantile, 71	24
1869	c	EPL238	Epileptic Encephalopathy, Early Infantile, 73	24
1870	c	EPL226	Epileptic Encephalopathy, Early Infantile, 66	24
1871	c	EPL218	Epileptic Encephalopathy, Early Infantile, 60	24
1872	c	EPL171	Epileptic Encephalopathy, Early Infantile, 38	23
1873	c	EPL215	Epileptic Encephalopathy, Early Infantile, 58	23
1874	c	EPL219	Epileptic Encephalopathy, Early Infantile, 61	23
1875	c	EPL243	Epileptic Encephalopathy, Early Infantile, 77	23
1876	c	EPL239	Epileptic Encephalopathy, Early Infantile, 74	23
1877	c	EPL237	Epileptic Encephalopathy, Early Infantile, 72	23
1878	c	EPL213	Epileptic Encephalopathy, Early Infantile, 57	23
1879	c	EPL177	Epileptic Encephalopathy, Early Infantile, 40	22
1880	c	EPL244	Epileptic Encephalopathy, Early Infantile, 78	22
1881		MSC089	Mosaic Monosomy X	21
1882	c	PSD047	Pseudo-Turner Syndrome	21
1883	c	EPL245	Epileptic Encephalopathy, Early Infantile, 79	21
1884	c	EPL248	Epileptic Encephalopathy, Early Infantile, 81	20
1885	c	EPL250	Epileptic Encephalopathy, Early Infantile, 83	19
1886	c	EPL249	Epileptic Encephalopathy, Early Infantile, 82	17
1887	c	ARX003	Arx-Related Epileptic Encephalopathy	6
1888	P	NRF023	Neurofibromatosis, Type Ii	76
1889	c	NRF024	Neurofibromatosis, Type I	71
1890	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	55
1891	P	ORF001	Orofaciodigital Syndrome	48
1892	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	36
1893	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	30
1894	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	29
1895	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
1896	c	PSD108	Pseudohypoparathyroidism, Type Ia	66
1897	c	PSD066	Pseudohypoparathyroidism, Type Ib	52
1898	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	45
1899	c	NNN020	Noonan Syndrome 7	37
1900	c	ORF041	Orofaciodigital Syndrome X	26
1901	c	ORF046	Orofaciodigital Syndrome Xvi	25
1902	c	ORF005	Orofaciodigital Syndrome 12	13
1903	c	CNG411	Congenital Disorder of Glycosylation, Type in	68
1904		PSD014	Pseudopseudohypoparathyroidism	56
1905	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
1906	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	54
1907	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	47
1908	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	42
1909	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	34
1910	P	DSR041	Disorder of Multiple Glycosylation	8
1911	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	48
1912	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	40
1913	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	39
1914	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
1915	c	CNG195	Congenital Disorder of Glycosylation, Type Id	37
1916	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	29
1917	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	50