Bone Diseases Category (2505 diseases)

Including: Bone, Skeletal, Cartilage, Rheumatologic, Osteo
See other categories (disease lists)

#	Family	MCID	Name	MIFTS
1	P	PGT001	Paget's Disease of Bone	61
2		PLY082	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy	48
3		OST012	Osteoarthritis	81
4	c	HRD104	Hereditary Multiple Osteochondromas	39
5	P	OST002	Osteoporosis	74
6		BRT054	Brittle Bone Disorder	70
7	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	44
8		FML345	Familial Expansile Osteolysis	45
9		CHR288	Chronic Recurrent Multifocal Osteomyelitis	55
10		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	28
11		GRC002	Gracile Bone Dysplasia	29
12	P	BNC003	Bone Cancer	58
13		OST159	Osteogenic Sarcoma	66
14		CRT002	Cartilage-Hair Hypoplasia	59
15		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	56
16	c	OST129	Osteopetrosis, Autosomal Recessive 2	47
17	c	OST136	Osteopetrosis, Autosomal Recessive 7	44
18	c	OST134	Osteopetrosis, Autosomal Recessive 6	35
19	c	OST164	Osteoporosis, Juvenile	57
20		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	42
21		GRH001	Gorham's Disease	38
22	c	FML169	Familial Osteochondritis Dissecans	32
23		END081	Endosteal Hyperostosis, Autosomal Dominant	59
24		ALB001	Albright's Hereditary Osteodystrophy	53
25		OST044	Osteoglophonic Dysplasia	52
26		BSC001	Buschke-Ollendorff Syndrome	50
27	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	38
28	c	OST137	Osteopetrosis, Autosomal Recessive 4	27
29		DPH007	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	30
30		KHL001	Kohler's Disease	18
31		LGG001	Legg-Calve-Perthes Disease	61
32		BNG036	Bone Giant Cell Tumor	51
33		BNW001	Bone Ewing's Sarcoma	50
34		HJD001	Hajdu-Cheney Syndrome	60
35		ONC003	Oncogenic Osteomalacia	46
36		BNT003	Bent Bone Dysplasia Syndrome	41
37		TRC039	Tracheobronchopathia Osteoplastica	19
38		GRD006	Geroderma Osteodysplastica	28
39		RNS001	Raine Syndrome	45
40		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	28
41	c	PRM243	Primary Bone Cancer	19
42	c	JVN025	Juvenile Primary Osteoporosis	18
43		OST003	Osteonecrosis	66
44		ENC044	Enchondromatosis, Multiple, Ollier Type	54
45		CRP009	Carpotarsal Osteochondromatosis	10
46		BND020	Bone Disease	61
47		OST016	Osteochondrosis	52
48		OSG001	Osgood-Schlatter's Disease	36
49		AXL003	Axial Osteomalacia	33
50	P	SPN400	Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures	24
51		OST022	Osteopathia Striata with Cranial Sclerosis	49
52		SCH072	Scheuermann Disease	39
53		MJD001	Majeed Syndrome	34
54	P	NGT001	Negative Rheumatoid Factor Polyarthritis	10
55		MLT033	Multicentric Osteolysis Nephropathy	10
56		BNM001	Bone Marrow Cancer	52
57		ANR009	Aneurysmal Bone Cysts	49
58	c	EXS019	Exostoses, Multiple, Type I	46
59		OST014	Osteopoikilosis	40
60	c	OST128	Osteogenesis Imperfecta, Type Xii	29
61		MLR010	Melorheostosis with Osteopoikilosis	24
62		DNT050	Dentin Dysplasia with Sclerotic Bones	15
63	P	OST009	Osteochondritis Dissecans	59
64		OST032	Osteofibrous Dysplasia	53
65	P	CNT056	Cantu Syndrome	51
66		OST015	Osteochondrodysplasia	50
67		MNT252	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	37
68	c	CNT094	Cantú Syndrome and Related Disorders	6
69		CYS041	Cystic Angiomatosis of Bone, Diffuse	30
70		BNS001	Bone Osteosarcoma	30
71	P	BNM015	Bone Mineral Density Quantitative Trait Locus 18	29
72		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	23
73		NVC001	Navicular Bone, Accessory	19
74	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	19
75		KNB002	Kienbock's Disease	28
76	c	OST109	Osteogenesis Imperfecta, Type Xiv	26
77	c	OST123	Osteogenesis Imperfecta, Type Xiii	26
78		PCM001	Pacman Dysplasia	21
79		BZZ001	Bizzare Parosteal Osteochondromatous Proliferation	16
80		OSS012	Osseous Heteroplasia, Progressive	64
81	P	CHN012	Chondrosarcoma	58
82		GNT026	Gnathodiaphyseal Dysplasia	37
83		CDS002	Codas Syndrome	33
84		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	19
85	c	LCL005	Localized Chondrosarcoma	10
86		RNL011	Renal Osteodystrophy	49
87		MLN014	Melnick-Needles Syndrome	41
88		GRD005	Geroderma Osteodysplasticum	31
89	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
90		RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	20
91		OSL001	Oslam Syndrome	20
92		OST149	Osteolysis Syndrome, Recessive	20
93		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	18
94		FRN047	Frontonasal Dysplasia with Alar Clefts	17
95		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	16
96		ALT005	Aloi Tomasini Isaia Syndrome	8
97		OST013	Osteosarcoma Arising in Bone Paget's Disease	7
98		DST005	Diastrophic Dysplasia	53
99		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	31
100		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	21
101		KTL001	Keutel Syndrome	40
102		SLT009	Solitary Bone Cyst	34
103	c	KNN007	Kenny-Caffey Syndrome, Type 2	30
104		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	26
105		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	24
106		OST117	Osteomesopyknosis	21
107		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	16
108		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	14
109		KNS001	Kniest Dysplasia	56
110		ADM013	Adamantinoma of Long Bones	48
111		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	40
112		JXT003	Juxtacortical Osteosarcoma	40
113		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	38
114		SKL003	Skeletal Muscle Cancer	37
115	c	PGT007	Paget Disease of Bone 3	36
116		PRP024	Peripheral Osteosarcoma	34
117	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	34
118		CNV007	Conventional Central Osteosarcoma	27
119	c	PGT009	Paget Disease of Bone 2, Early-Onset	26
120		SML003	Small Cell Osteogenic Sarcoma	25
121		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	19
122		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	16
123		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	16
124		OST034	Osteogenesis Imperfecta Levin Type	10
125		RHM031	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	9
126		RHM030	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	9
127		LRY012	Laryngeal Cartilage Cancer	8
128		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	6
129		INF051	Infantile Recurrent Chronic Multifocal Osteomyolitis	4
130		ACH004	Achondroplasia	68
131		OST017	Osteomyelitis	64
132		OST011	Osteomalacia	52
133		EXS001	Exostosis	45
134		OST004	Osteitis Fibrosa	42
135	P	CLC057	Cole-Carpenter Syndrome	38
136		BMR001	Boomerang Dysplasia	36
137		OST062	Osteoarthritis with Mild Chondrodysplasia	30
138		TRC115	Tracheopathia Osteoplastica	29
139		EKN001	Eiken Syndrome	22
140		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	21
141	c	PGT011	Paget Disease of Bone 6	21
142		SHR027	Short Stature Wormian Bones Dextrocardia	13
143		BNN003	Bone Inflammation Disease	55
144		GLC086	Glucocorticoid-Induced Osteoporosis	46
145	P	ACH011	Achondrogenesis	45
146		SKL017	Skeletal Dysplasias	43
147		MRS004	Marshall-Smith Syndrome	42
148	P	BNL002	Bone Lymphoma	34
149		SKL001	Skeletal Tuberculosis	25
150		HMM004	Hamamy Syndrome	25
151	c	PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	25
152		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	22
153		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	21
154		BND017	Bone Dysplasia, Lethal, Holmgren Type	21
155		BRS030	Breast Osteosarcoma	20
156	c	PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	17
157		OST047	Osteopenia and Sparse Hair	17
158		OST058	Osteopoikilosis and Dacryocystitis	17
159		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	17
160		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	15
161		KDN010	Kidney Osteogenic Sarcoma	13
162		CHS003	Chest Wall Bone Cancer	9
163		BNR002	Bone Resorption Disease	53
164	P	OST028	Osteochondroma	49
165	c	BNM029	Bone Mineral Density Quantitative Trait Locus 15	47
166	P	BRC015	Bruck Syndrome	45
167	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	44
168		PRS029	Periosteal Osteogenic Sarcoma	42
169		FBR013	Fibrosarcomatous Osteosarcoma	38
170		DYS013	Dysbaric Osteonecrosis	37
171	P	EXT032	Extraosseous Osteosarcoma	37
172		WNC001	Winchester Syndrome	35
173		CHP002	Chops Syndrome	33
174		CL1004	Col1a1/2-Related Osteogenesis Imperfecta	29
175		BNG005	Bone Giant Cell Sarcoma	26
176		HGH023	High Bone Mass Osteogenesis Imperfecta	26
177		BNP002	Bone Epithelioid Hemangioma	24
178		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	23
179		BNF003	Bone Fragility with Contractures, Arterial Rupture, and Deafness	22
180		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	16
181		PYK001	Pyknoachondrogenesis	16
182		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	16
183		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	16
184		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	15
185		PLY028	Polycystic Bone Disease	13
186	c	ADL034	Adult Extraosseous Osteosarcoma	13
187		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	13
188		BWN005	Bowing of Long Bones Congenital	12
189	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	10
190		CHL007	Childhood Extraosseous Osteosarcoma	10
191		HPT017	Hepatic Osteogenic Sarcoma	10
192		MDS009	Mediastinal Osteogenic Sarcoma	9
193	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	9
194		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	9
195		MLG006	Malignant Neoplasm of Short Bones of Lower Limb	8
196		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	4
197		HYP068	Hyperostosis	50
198		BNF002	Bone Fracture	46
199		OPS002	Opsismodysplasia	38
200		ACR002	Acrocapitofemoral Dysplasia	33
201		CZC002	Czech Dysplasia	28
202	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	22
203		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	8
204		HYP042	Hypochondroplasia	60
205		GRN034	Grange Syndrome	55
206		FBR009	Fibrous Dysplasia	50
207		CHR543	Chromosome 2q37 Deletion Syndrome	35
208	c	DNT025	Dentinogenesis Imperfecta 1	31
209		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
210	c	EXS020	Exostoses, Multiple, Type Ii	25
211		STR088	Stratton-Parker Syndrome	23
212		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	22
213	c	ERL004	Early Yaws	21
214	c	SPN380	Spinal Muscular Atrophy with Congenital Bone Fractures 2	20
215	c	LTY001	Late Yaws	19
216		PNN003	Panner Disease	9
217		LNG027	Long Bones of Lower Limb Cancer	8
218	c	LYS017	Loeys-Dietz Syndrome 4	49
219	P	PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	48
220		MLR003	Melorheostosis	47
221		OST097	Osteoporotic Fracture	44
222		MLG014	Malignant Fibrous Histiocytoma of Bone	42
223	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
224	c	FNC046	Fanconi Anemia, Complementation Group P	39
225		FBR002	Fibrosarcoma of Bone	39
226		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	35
227		PDT021	Pediatric Osteosarcoma	35
228		BNR001	Bone Remodeling Disease	31
229		CHN003	Chondroblastic Osteosarcoma	31
230		LCL004	Localized Osteosarcoma	30
231	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	28
232		TLN002	Telangiectatic Osteogenic Sarcoma	27
233	c	CLC056	Cole-Carpenter Syndrome 1	23
234		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	20
235	c	PRM151	Primary Bone Lymphoma	20
236	P	MLT017	Multifocal Osteogenic Sarcoma	19
237		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	19
238		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	18
239	c	PGT006	Paget Disease of Bone 4	18
240		BMR004	Beemer Lethal Malformation Syndrome	18
241		LSS034	Lissencephaly Type Iii and Bone Dysplasia	18
242		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	18
243		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	16
244	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
245	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	15
246		INT073	Intracortical Osteogenic Sarcoma	14
247		SYN002	Synchronous Multifocal Osteogenic Sarcoma	14
248	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	14
249		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	12
250		DST098	Distal Osteosclerosis	12
251		LPS001	Liposarcoma of Bone	12
252		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	11
253		SHR094	Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	11
254		OST156	Osteosclerosis with Ichthyosis and Fractures	10
255		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	10
256		BNN002	Bone Angioendothelial Sarcoma	10
257		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	9
258		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	7
259		CHL041	Childhood Intracortical Osteosarcoma	7
260		CHL001	Childhood Parosteal Osteogenic Sarcoma	6
261		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	6
262	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	6
263		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	6
264		OST172	Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits	6
265		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	6
266		MTC001	Metachronous Osteosarcoma of the Bone	5
267		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	5
268		CTR016	Cataract Skeletal Anomalies	4
269		HYD022	Hydrocephalus Skeletal Anomalies	4
270		OCL029	Oculo Skeletal Renal Syndrome	3
271		CTS007	Cutis Laxa Osteoporosis	3
272	c	PST038	Positive Rheumatoid Factor Polyarthritis	3
273		BRT025	Brittle Bone Syndrome Lethal Type	3
274		DWR006	Dwarfism Lethal Type Advanced Bone Age	3
275		TBB002	Tibiae Bowed Radial Anomalies Osteopenia Fracture	3
276		HYD020	Hydrocephalus Growth Retardation Skeletal Anomalies	3
277		DWR010	Dwarfism Thin Bones Multiple Fractures	3
278		CRP008	Carpo Tarsal Osteolysis Recessive	3
279		CRN080	Craniofacial and Skeletal Defects	3
280		GGN003	Gigantism Advanced Bone Age Hoarse Cry	3
281		PRR012	Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	3
282	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	62
283	P	OTS002	Otospondylomegaepiphyseal Dysplasia	46
284		OST115	Osteonecrosis of the Jaw	44
285	c	ACH033	Achondrogenesis, Type Ia	44
286	c	MYF007	Myofibromatosis, Infantile, 1	43
287	P	HRD001	Hereditary Multiple Exostoses	42
288		CHN004	Chondroblastoma	40
289		END059	Endocrine-Cerebroosteodysplasia	35
290		OST006	Osteoblastoma	34
291		OST160	Osteoid Osteoma	32
292		BND014	Bone Development Disease	31
293	P	BRC003	Brachyolmia	30
294		DYS045	Dysosteosclerosis	30
295		CPL004	Caplan's Syndrome	29
296		BNS002	Bone Structure Disease	27
297		PTR001	Petrositis	23
298	c	FBR029	Fibrochondrogenesis 1	23
299		OST168	Osteosclerotic Metaphyseal Dysplasia	21
300	c	BRC053	Brachyolmia Type 2	21
301		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	20
302		SHR114	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies	20
303		SKL011	Skeletal Defects, Genital Hypoplasia, and Mental Retardation	18
304		SLW006	Saul-Wilson Syndrome	14
305		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	13
306		CHR633	Choroidal Osteoma, Bilateral	11
307	P	ART022	Arthritis	77
308		CNN005	Connective Tissue Disease	64
309	P	HMC002	Homocystinuria	52
310		HYP017	Hypophosphatemia	48
311	P	OSS001	Ossifying Fibroma	46
312	P	FRN012	Frontometaphyseal Dysplasia	45
313		PTL009	Patella, Chondromalacia of	40
314		HYP041	Hypochondrogenesis	40
315		CRN049	Craniolenticulosutural Dysplasia	40
316		MCP033	Mucopolysaccharidoses	38
317		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	36
318	c	TRN014	Transient Arthritis	34
319		BNS004	Bone Squamous Cell Carcinoma	32
320		RHM013	Rheumatoid Nodulosis	32
321		HYP674	Hyperostosis Cranialis Interna	30
322		ISC005	Ischemic Bone Disease	30
323	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	29
324		BND004	Bone Deterioration Disease	29
325		CHN070	Cohen-Gibson Syndrome	28
326	c	SNG011	Singleton-Merten Syndrome 1	27
327		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	25
328		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	23
329		BNC005	Bone Chondrosarcoma	23
330		CLB033	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness	23
331		CRN272	Craniometadiaphyseal Dysplasia	22
332	c	BNB001	Bone Benign Neoplasm	21
333		SPC025	Specific Granule Deficiency 2	21
334	c	FBR030	Fibrochondrogenesis 2	19
335	c	JVN045	Juvenile Ossifying Fibroma	17
336		SND010	Sinding-Larsen-Johansson Disease	10
337		ORB004	Orbital Osteomyelitis	9
338		BNM012	Bone Ameloblastoma	6
339	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
340	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
341	P	MSC003	Muscular Atrophy	55
342		AGN012	Agnathia-Otocephaly Complex	55
343	c	HYP293	Hypophosphatasia, Adult	52
344	c	HYP292	Hypophosphatasia, Infantile	51
345	c	DMN023	Diamond-Blackfan Anemia 1	50
346	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
347		ASP005	Asphyxiating Thoracic Dystrophy	46
348	c	ACH042	Achondrogenesis, Type Ib	45
349	c	BRC052	Brachydactyly, Type B2	44
350		FCL041	Focal Myositis	43
351	c	SCL042	Sclerosteosis 2	43
352	c	PRG001	Progressive Muscular Atrophy	41
353		TRN004	Trench Fever	40
354		GNT001	Giant Cell Reparative Granuloma	39
355	P	PRT042	Parietal Foramina	39
356	P	ACR062	Acroosteolysis	38
357		OST008	Osteosclerotic Myeloma	38
358		SLT001	Solitary Osseous Plasmacytoma	36
359	c	SCL045	Sclerosteosis 1	35
360	c	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	33
361		RHM008	Rheumatic Myocarditis	32
362	c	DMN021	Diamond-Blackfan Anemia 6	32
363		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
364	c	PRT059	Parietal Foramina 1	31
365		WDW001	Widow's Peak	30
366		ACR095	Acrofacial Dysostosis, Cincinnati Type	29
367	c	FRN049	Frontometaphyseal Dysplasia 1	27
368	c	SMT018	Smith-Mccort Dysplasia 2	27
369	c	PRT060	Parietal Foramina 2	27
370		HYP754	Hypophosphatemic Bone Disease	26
371	c	DMN017	Diamond-Blackfan Anemia 10	25
372		LBN004	Liebenberg Syndrome	25
373	c	DMN022	Diamond-Blackfan Anemia 9	25
374	P	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	24
375	c	DMN019	Diamond-Blackfan Anemia 4	24
376	c	DMN006	Diamond-Blackfan Anemia 3	24
377	c	DMN024	Diamond-Blackfan Anemia 7	23
378	c	DMN018	Diamond-Blackfan Anemia 5	23
379		TRS030	Tarsal Coalition	23
380	c	DMN005	Diamond-Blackfan Anemia 2	23
381		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	23
382	c	DMN029	Diamond-Blackfan Anemia 11	22
383	c	DMN020	Diamond-Blackfan Anemia 8	21
384		IDP069	Idiopathic Avascular Necrosis	21
385	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
386	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	21
387	c	DMN028	Diamond-Blackfan Anemia 12	20
388		PRT108	Puerto Rican Infant Hypotonia Syndrome	20
389	P	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	20
390		MZB001	Mazabraud Syndrome	19
391		KNN010	Kennerknecht Syndrome	19
392		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	19
393		AXN011	Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities	19
394		FXL001	Foix-Alajouanine Syndrome	19
395		HDZ001	Hadziselimovic Syndrome	19
396	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	18
397		ELS005	Elastoma	18
398		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	18
399		VLF001	Velofacioskeletal Syndrome	17
400		OST173	Osteoradionecrosis of the Mandible	17
401		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
402	c	MYF010	Myofibromatosis, Infantile, 2	17
403	c	PRT113	Parietal Foramina 3	16
404	P	SPN300	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	16
405	c	BLN020	Blount Disease, Infantile	16
406		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	15
407		PLM145	Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	15
408		CLB032	Coloboma of Macula and Skeletal Anomalies	15
409	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	14
410		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	14
411		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	14
412		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	14
413		BLN021	Blount Disease, Adolescent	14
414		MCR197	Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	14
415		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	14
416		PHL009	Phalangeal Microgeodic Syndrome	14
417		ACH002	Achilles Bursitis	14
418		EPM003	Epimetaphyseal Skeletal Dysplasia	13
419		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	13
420		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	13
421		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	13
422		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	13
423		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	12
424		ISL032	Isolated Bone Marrow Mastocytosis	12
425		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	12
426	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	12
427		THN012	Thanatophoric Dysplasia, Glasgow Variant	11
428		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	11
429		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	11
430		OSS016	Ossified Ear Cartilages	10
431	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	10
432	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
433	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
434	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	10
435	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	10
436	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	10
437	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
438	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
439	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	10
440		NSL024	Nasal Bones, Absence of	10
441		BNL001	Bone Leiomyosarcoma	10
442		OST162	Osteomalacia, Sclerosing, with Cerebral Calcification	9
443		OST161	Osteoma of Middle Ear	9
444		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	9
445		OST155	Osteomas of Mandible	9
446		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	9
447		ANG057	Angioosteohypotrophic Syndrome	8
448		IDP078	Idiopathic Phalangeal Acro-Osteolysis	7
449		BNP003	Bone Pain, Periodic	7
450		PBC001	Pubic Bone Dysplasia	7
451		EXP005	Expansile Bone Lesions	7
452		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	7
453		INV019	Inverse Klippel-Trénaunay Syndrome	6
454	c	LRP007	Lrp5-Related Primary Osteoporosis	6
455		OST166	Osteoma of Cranial Vault, Familial	6
456	P	BNS005	Bone Size Quantitative Trait Locus 1	6
457	c	BNS006	Bone Size Quantitative Trait Locus 2	6
458		CNT014	Central Nervous System Osteosarcoma	6
459		PRM165	Primary Plasmacytoma of the Bone	6
460		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
461		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	5
462		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	5
463		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	5
464		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	4
465		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
466		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
467		SST002	Sost-Related Sclerosing Bone Dysplasias	3
468		BND008	Bone Dysplasia Moore Type	3
469		SKL008	Skeletal Dysplasia Orofacial Anomalies	3
470		BND005	Bone Dysplasia Azouz Type	3
471		BND006	Bone Dysplasia Corpus Callosum Agenesis	3
472	c	SYS001	Systemic Lupus Erythematosus	88
473		MYL069	Myeloma, Multiple	85
474	P	FNC027	Fanconi Anemia, Complementation Group a	82
475		PFF001	Pfeiffer Syndrome	78
476	P	SRC025	Sarcoidosis 1	76
477	P	NRF023	Neurofibromatosis, Type Ii	75
478		MRF001	Marfan Syndrome	75
479		BHC003	Behcet Syndrome	73
480		KWS002	Kawasaki Disease	72
481	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	70
482	P	SYS005	Systemic Scleroderma	69
483	P	LPS004	Lupus Erythematosus	69
484		SMT004	Smith-Lemli-Opitz Syndrome	69
485	c	PRM196	Premature Ovarian Failure 1	69
486	P	TMP003	Temporal Arteritis	69
487	P	AMY004	Amyloidosis	68
488		GRN037	Granulomatosis with Polyangiitis	68
489		STH001	Saethre-Chotzen Syndrome	67
490	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	67
491		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	66
492	P	HYD006	Hydrocephalus	66
493	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	65
494	c	MCP050	Mucopolysaccharidosis, Type Ii	64
495	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
496	P	ART023	Arthropathy	64
497	P	GCH001	Gaucher's Disease	64
498	P	RHN004	Rhinitis	62
499	P	MCK013	Meckel Syndrome, Type 1	62
500	P	SHW006	Shwachman-Diamond Syndrome 1	62
501	c	MCP049	Mucopolysaccharidosis, Type Vii	62
502	P	HST010	Histiocytosis	61
503	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
504	c	GCH015	Gaucher Disease, Type I	61
505		GT001	Gout	60
506		ERD001	Erdheim-Chester Disease	60
507	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
508	P	OCL013	Oculodentodigital Dysplasia	60
509	c	MNN047	Mannosidosis, Alpha B, Lysosomal	59
510		LCR014	Lacrimoauriculodentodigital Syndrome	59
511	P	SJG008	Sjogren Syndrome	59
512	P	CRN108	Cranioectodermal Dysplasia 1	59
513		GRN051	Granulomatous Disease, Chronic, X-Linked	58
514	P	SCL018	Scoliosis	58
515	P	HLL001	Hallermann-Streiff Syndrome	58
516	P	ANG015	Angioedema	57
517		KLP010	Klippel-Trenaunay-Weber Syndrome	57
518	P	AGG001	Aggressive Periodontitis	56
519		GDP001	Goodpasture Syndrome	56
520	P	VNB005	Van Buchem Disease	56
521	P	SPN052	Spondyloarthropathy	56
522		SPN019	Spondylolisthesis	56
523		ASP002	Aspartylglucosaminuria	55
524		HRL003	Hurler Syndrome	55
525		OST024	Osteoporosis-Pseudoglioma Syndrome	55
526	c	OST163	Osteopetrosis, Autosomal Recessive 3	55
527	c	CRN139	Cornelia De Lange Syndrome 1	55
528	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
529		MLT135	Multiple Sulfatase Deficiency	54
530	c	GCH016	Gaucher Disease, Type Ii	54
531	c	ACH041	Achondrogenesis, Type Ii	54
532		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	54
533		SPN051	Spondylitis	54
534	P	OTS001	Otosclerosis	53
535		ANK001	Ankylosis	53
536		HMF009	Hemifacial Hyperplasia	53
537	c	CHL140	Chilblain Lupus 1	53
538		GLC012	Galactosialidosis	52
539		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	52
540		DGN001	Degenerative Disc Disease	52
541	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	52
542	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
543	c	FNC042	Fanconi Anemia, Complementation Group D2	52
544	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	51
545		CTY001	Cat Eye Syndrome	51
546	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	51
547	c	ATS393	Autosomal Recessive Cutis Laxa Type I	51
548		FLT011	Felty Syndrome	51
549	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
550	P	SMP003	Simpson-Golabi-Behmel Syndrome	50
551	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
552	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	50
553	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	50
554		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	49
555	c	GCH017	Gaucher Disease, Type Iii	49
556		PLY112	Polyarteritis Nodosa, Childhood-Onset	49
557		HMR002	Hemarthrosis	49
558	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
559	P	RDL002	Radioulnar Synostosis	49
560	P	FNC044	Fanconi Anemia, Complementation Group C	49
561		SYN005	Synostosis	48
562		DRM013	Dermoid Cyst	48
563		ACR058	Acrofacial Dysostosis 1, Nager Type	48
564	P	FNG006	Feingold Syndrome 1	48
565	c	CRP023	Carpenter Syndrome 1	48
566	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	48
567	c	ANG068	Angioedema, Hereditary, Type I	48
568	P	CHN059	Chondrocalcinosis	47
569		DRG013	Drug-Induced Lupus Erythematosus	47
570		SND002	Sneddon Syndrome	47
571	c	SCK009	Seckel Syndrome 1	47
572	c	HYD064	Hydrocephalus, Congenital, 1	46
573	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
574		CLB002	Clubfoot	46
575	P	MLT072	Multiple Synostoses Syndrome	46
576		SHR098	Short-Rib Thoracic Dysplasia 12	46
577	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	46
578	c	NML003	Nemaline Myopathy 2	45
579	c	PRM294	Primary Sjögren Syndrome	45
580		VLL003	Villonodular Synovitis	45
581	P	MNN018	Mannosidosis	45
582	P	CPL003	Capillary Leak Syndrome	45
583	c	OTP007	Otopalatodigital Syndrome, Type Ii	45
584	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
585	c	SYS043	Systemic Lupus Erythematosus 1	45
586	c	BRC060	Brachydactyly, Type E2	45
587	c	FNC047	Fanconi Anemia, Complementation Group Q	44
588	c	NML002	Nemaline Myopathy 1	44
589	c	JVN003	Juvenile Xanthogranuloma	44
590		SPN036	Spinal Chordoma	44
591		CHN053	Chondromyxoid Fibroma	44
592	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
593		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	44
594	c	MCK012	Meckel Syndrome, Type 6	44
595	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	44
596	c	ACR116	Aicardi-Goutieres Syndrome 1	44
597	c	FNC058	Fanconi Anemia, Complementation Group R	44
598	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	43
599		DYS018	Dysostosis	43
600	c	BRC062	Brachydactyly, Type D	43
601	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	43
602		EPC002	Epicondylitis	43
603	c	CNG023	Congenital Fibrosarcoma	43
604		ESN017	Eosinophilic Granuloma	42
605	c	FNC056	Fanconi Anemia, Complementation Group V	42
606	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	42
607	c	NML005	Nemaline Myopathy 4	42
608		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
609	c	FNC052	Fanconi Anemia, Complementation Group T	42
610		HYL004	Hyaline Fibromatosis Syndrome	42
611		CLV002	Clivus Chordoma	42
612	c	NML004	Nemaline Myopathy 3	42
613		SPN331	Spondyloocular Syndrome	42
614	c	FNC025	Fanconi Anemia, Complementation Group J	41
615	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
616		MYH012	Myhre Syndrome	41
617		RHM035	Rheumatic Fever-Related Antigen	41
618	c	FNC045	Fanconi Anemia, Complementation Group F	41
619	c	CHR048	Chronic Rhinitis	41
620	c	FNC029	Fanconi Anemia, Complementation Group I	41
621	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	41
622	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	41
623		GNT031	Genitopatellar Syndrome	41
624	c	FNC057	Fanconi Anemia, Complementation Group U	41
625	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	41
626	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
627		ISL121	Isolated Split Hand-Split Foot Malformation	41
628		PDT035	Pediatric Systemic Lupus Erythematosus	40
629	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
630	c	SCK015	Seckel Syndrome 2	40
631	c	SCP001	Sc Phocomelia Syndrome	40
632	c	FNC032	Fanconi Anemia, Complementation Group B	40
633	c	SPL034	Split-Hand/foot Malformation 4	40
634	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	40
635	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
636		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	40
637	P	GNG010	Gangliosidosis Gm2	40
638	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	39
639	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	39
640		SPN029	Spondylolysis	39
641	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	39
642	c	TYP024	Type Ii Mixed Cryoglobulinemia	39
643		IDP070	Idiopathic Scoliosis	39
644		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	39
645	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
646		DPH019	Diaphanospondylodysostosis	38
647		HRL004	Hurler-Scheie Syndrome	38
648	c	FNC023	Fanconi Anemia, Complementation Group N	38
649	c	MCL016	Mucolipidosis Iii Gamma	38
650	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	38
651	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
652	c	PRM093	Premature Ovarian Failure 7	38
653		TTR016	Tetra-Amelia Syndrome	38
654	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38
655	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	38
656	c	MCP051	Mucopolysaccharidosis, Type Ix	38
657	c	SPL070	Split-Hand/foot Malformation 2	38
658	c	ADL019	Adult Fibrosarcoma	38
659	c	FNC028	Fanconi Anemia, Complementation Group L	37
660	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
661		SHL001	Shoulder Impingement Syndrome	37
662	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	37
663		HYP007	Hypermobility Syndrome	37
664	c	INF086	Inflammatory Bowel Disease 3	37
665		EST007	Estrogen Resistance	37
666		MND025	Mandibulofacial Dysostosis with Alopecia	37
667		LTT002	Letterer-Siwe Disease	37
668	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
669		FNC030	Fanconi Anemia, Complementation Group G	37
670	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	37
671	c	MCK014	Meckel Syndrome, Type 5	37
672	c	CNG188	Congenital Disorder of Glycosylation, Type if	36
673	c	ATS076	Autosomal Recessive Stickler Syndrome	36
674	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	36
675		PRS037	Periostitis	36
676		ALG027	Al-Gazali-Bakalinova Syndrome	36
677	c	INF087	Inflammatory Bowel Disease 4	36
678		INF159	Infantile Sialic Acid Storage Disease	36
679	P	GLP001	Geleophysic Dysplasia	36
680	c	SVR040	Severe Congenital Nemaline Myopathy	36
681		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
682	P	NNT042	Neonatal Lupus Erythematosus	36
683		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	36
684	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	35
685		MYL002	Myelophthisic Anemia	35
686		STL007	Steel Syndrome	35
687	c	CNG379	Congenital Disorder of Glycosylation, Type It	35
688	c	SPL033	Split-Hand/foot Malformation 6	35
689	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	35
690	c	MCK033	Meckel Syndrome, Type 4	35
691		TRM011	Terminal Osseous Dysplasia	35
692	c	FNC048	Fanconi Anemia, Complementation Group O	35
693		PRK003	Parkes Weber Syndrome	35
694		OLC001	Olecranon Bursitis	35
695	P	CXV002	Coxa Vara	35
696		MST019	Mastoiditis	34
697	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	34
698		HYD003	Hydrarthrosis	34
699	c	NML006	Nemaline Myopathy 5	34
700		ISL062	Isolated Plagiocephaly	34
701		NNT039	Neonatal Marfan Syndrome	34
702		HYP679	Hypoglossia-Hypodactylia	34
703	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	34
704		CNS013	Constricting Bands, Congenital	34
705	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	34
706	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	34
707	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
708	c	SPL025	Split-Hand/foot Malformation 5	33
709	c	GLP003	Geleophysic Dysplasia 1	33
710	c	WLL036	Weill-Marchesani Syndrome 1	33
711		IDP041	Idiopathic Recurrent Pericarditis	33
712		CHN009	Chondroid Chordoma	33
713	c	MCK034	Meckel Syndrome, Type 8	33
714	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	33
715	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
716	P	ATL001	Atelosteogenesis	33
717	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	33
718	P	OMD003	Omodysplasia	33
719	P	MTP005	Metaphyseal Anadysplasia	33
720	c	INF092	Inflammatory Bowel Disease 9	32
721		BRC004	Brachydactyly-Syndactyly Syndrome	32
722		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
723		WLD005	Wild Type Attr Amyloidosis	32
724	c	INT274	Intermediate Congenital Nemaline Myopathy	32
725	c	PRD039	Periodontitis, Aggressive, 1	32
726		ANG049	Angioedema Induced by Ace Inhibitors	32
727	c	GLP004	Geleophysic Dysplasia 2	32
728	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	32
729		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	32
730	c	CNG199	Congenital Disorder of Glycosylation, Type Im	31
731	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
732	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
733	c	WLL037	Weill-Marchesani Syndrome 2	31
734		TBR007	Tuberculum Sellae Meningioma	31
735	c	CTS031	Cutis Laxa, Autosomal Dominant 2	31
736	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	31
737	c	ACQ027	Acquired Cutis Laxa	31
738	c	CRN109	Cranioectodermal Dysplasia 2	31
739	c	SCK011	Seckel Syndrome 5	31
740	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
741	c	OTS005	Otosclerosis 1	30
742	c	SCK010	Seckel Syndrome 4	30
743		CRN264	Craniosynostosis with Fibular Aplasia	30
744	c	ACR081	Aicardi-Goutieres Syndrome 6	30
745		PTL002	Patellofemoral Pain Syndrome	30
746	c	STS007	Sotos Syndrome 2	30
747		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	29
748	c	ART104	Arthrogryposis, Distal, Type 5d	29
749		VND005	Van Den Ende-Gupta Syndrome	29
750		BNG069	Benign Cephalic Histiocytosis	29
751	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	29
752		MLR023	Melorheostosis, Isolated	29
753	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
754	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
755	c	RBN008	Rubinstein-Taybi Syndrome 2	29
756		ISL096	Isolated Klippel-Feil Syndrome	29
757		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	28
758	P	ADL037	Adult Xanthogranuloma	28
759	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	28
760		PTR002	Petroclival Meningioma	28
761		IGG014	Igg4-Related Sclerosing Cholangitis	28
762	c	INF089	Inflammatory Bowel Disease 6	28
763	P	TRC031	Trichorhinophalangeal Syndrome	28
764		EPP010	Epiphysiolysis of the Hip	28
765	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
766	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	28
767	c	SYN084	Synpolydactyly 1	28
768		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	28
769	c	SYM022	Symphalangism, Proximal, 1a	28
770	P	DSB002	Desbuquois Dysplasia	28
771	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	28
772	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
773	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
774	c	INF078	Inflammatory Bowel Disease 2	28
775	c	FNC062	Fanconi Anemia, Complementation Group S	28
776		KMM001	Kummell's Disease	28
777	P	SKL005	Skull Base Meningioma	27
778		HLS001	Heel Spur	27
779		ANG062	Angioosteohypertrophic Syndrome	27
780		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	27
781	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	27
782	c	ART122	Arthrogryposis, Distal, Type 8	27
783	P	KNN002	Kenny-Caffey Syndrome	27
784		TTR023	Tetraamelia-Multiple Malformations Syndrome	27
785	c	INF075	Inflammatory Bowel Disease 16	27
786	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
787	c	CRP022	Carpenter Syndrome 2	27
788		ASS004	Aase-Smith Syndrome I	27
789	c	INF088	Inflammatory Bowel Disease 5	27
790	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	27
791	c	PSD107	Pseudo-Torch Syndrome 2	27
792	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	27
793		ACR017	Acrofacial Dysostosis	27
794	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	27
795	c	ANG045	Angioedema, Hereditary, Type Iii	27
796	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
797	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
798	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
799	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	26
800	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	26
801	c	FRN033	Frontonasal Dysplasia 2	26
802	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	26
803		ORB011	Orbit Rhabdomyosarcoma	26
804		ISL061	Isolated Brachycephaly	26
805	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
806	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
807	P	NNT006	Neonatal Myasthenia Gravis	26
808		PRR001	Periarthritis	26
809	c	MRG015	Meier-Gorlin Syndrome 7	26
810	c	MCK028	Meckel Syndrome 13	26
811		ISL089	Isolated Scaphocephaly	26
812	c	NML022	Nemaline Myopathy 10	25
813		LMB069	Lamb-Shaffer Syndrome	25
814	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
815	c	DSB005	Desbuquois Dysplasia 2	25
816		IGG008	Igg4-Related Mesenteritis	25
817	c	SYS069	Systemic Lupus Erythematosus 6	25
818	c	MRG010	Meier-Gorlin Syndrome 3	25
819	c	WLL040	Weill-Marchesani Syndrome 4	25
820		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	25
821		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	25
822	c	CRN215	Cornelia De Lange Syndrome 4	25
823		CVR001	Cavernous Sinus Meningioma	25
824		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
825		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	25
826		EPP011	Epiphyseal Chondrodysplasia, Miura Type	25
827	c	FRN032	Frontonasal Dysplasia 3	25
828	P	ACR020	Acropectorovertebral Dysplasia	25
829	c	MCK035	Meckel Syndrome, Type 10	25
830		ISL087	Isolated Oxycephaly	24
831	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
832	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
833	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	24
834	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	24
835	c	OTF003	Otofaciocervical Syndrome 2	24
836	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
837		CRN266	Craniofacial Dyssynostosis with Short Stature	24
838	c	DKP001	Dk Phocomelia Syndrome	24
839	c	CRN209	Cornelia De Lange Syndrome 5	24
840	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	24
841	c	SCK029	Seckel Syndrome 7	24
842		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	24
843	c	FNG009	Feingold Syndrome 2	24
844	c	LTH047	Lethal Congenital Contracture Syndrome 3	24
845	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
846		FBR010	Fibrogenesis Imperfecta Ossium	24
847		GNR023	Generalized Eruptive Histiocytosis	24
848	P	FRM004	Foramen Magnum Meningioma	24
849		CMB064	Combined Oxidative Phosphorylation Deficiency 24	24
850	c	ART131	Arthrogryposis, Distal, Type 4	24
851	c	SYS066	Systemic Polyarteritis Nodosa	24
852	c	BRC080	Brachydactyly, Type A1, B	23
853	c	SYS038	Systemic Lupus Erythematosus 2	23
854	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
855		FBR091	Fibroblastic Rheumatism	23
856	c	WLL038	Weill-Marchesani Syndrome 3	23
857		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	23
858	c	PRM089	Premature Ovarian Failure 3	23
859	c	CRN135	Cornelia De Lange Syndrome 3	23
860		ACR101	Acrocraniofacial Dysostosis	23
861	c	NML007	Nemaline Myopathy 6	23
862	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
863	c	ADL068	Adult-Onset Nemaline Myopathy	23
864	c	SCK037	Seckel Syndrome 9	23
865	c	CFF011	Coffin-Siris Syndrome 6	23
866		WLD006	Wild Type Abeta2m Amyloidosis	23
867		LMB003	Lumbosacral Lipoma	23
868	c	INF090	Inflammatory Bowel Disease 7	23
869		INF118	Inflammatory Myopathy with Abundant Macrophages	23
870	c	SCK038	Seckel Syndrome 10	23
871	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	23
872		PTL010	Patella Aplasia-Hypoplasia	23
873		IGG015	Igg4-Related Thyroid Disease	23
874	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
875		PRG077	Progressive Nodular Histiocytosis	23
876		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	23
877		MRF019	Marfan Lipodystrophy Syndrome	22
878		ULN023	Ulnar Hypoplasia	22
879	c	TRC073	Treacher Collins Syndrome 2	22
880	P	PHC014	Phocomelia	22
881		HGH021	Hughes-Stovin Syndrome	22
882	c	CFF006	Coffin-Siris Syndrome 5	22
883	c	PRM254	Premature Ovarian Failure 11	22
884		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
885		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
886	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
887	c	INF072	Inflammatory Bowel Disease 11	22
888	c	NML010	Nemaline Myopathy 7	22
889		PLC002	Plica Syndrome	22
890		RFM002	Roifman-Chitayat Syndrome	22
891	c	EHL065	Ehlers-Danlos Syndrome, Type V	22
892		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	22
893		TBL006	Tibial Adamantinoma	22
894	c	TRC078	Trichohepatoenteric Syndrome 2	22
895		TRG019	Trigonocephaly with Short Stature and Developmental Delay	22
896	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
897	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
898	c	BRC075	Brachydactyly, Type A1, C	22
899	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	22
900	c	LTH032	Lethal Congenital Contracture Syndrome 7	22
901	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	22
902		RDL022	Radial Hemimelia	22
903	c	PRM192	Premature Ovarian Failure 8	22
904	c	MCK036	Meckel Syndrome, Type 9	22
905	c	FNC061	Fanconi Anemia, Complementation Group W	22
906	c	SCK033	Seckel Syndrome 8	22
907		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	22
908	c	CLC055	Cole-Carpenter Syndrome 2	22
909		MSL005	Mseleni Joint Disease	21
910		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
911	c	MRG009	Meier-Gorlin Syndrome 2	21
912		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
913		DGT002	Digital Clubbing, Isolated Congenital	21
914	c	NML021	Nemaline Myopathy 9	21
915	c	LTH031	Lethal Congenital Contracture Syndrome 6	21
916	c	BRC105	Brachydactyly, Type A1, D	21
917	c	INF162	Inflammatory Bowel Disease 25	21
918	c	MRG011	Meier-Gorlin Syndrome 4	21
919		PLV015	Pelvis-Shoulder Dysplasia	21
920	c	STC012	Stickler Syndrome, Type Iv	21
921	c	MRG014	Meier-Gorlin Syndrome 6	21
922		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	21
923	c	SYN088	Synpolydactyly 2	21
924		CRN200	Craniosynostosis and Dental Anomalies	21
925	c	PRM207	Premature Ovarian Failure 10	21
926		SWN003	Sweeney-Cox Syndrome	21
927	P	OVR096	Overlap Myositis	21
928	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	21
929	c	PRV016	Periventricular Nodular Heterotopia 6	21
930		SGL002	Sagliker Syndrome	21
931	c	THR096	Three M Syndrome 3	21
932		ISL084	Isolated Trigonocephaly	21
933	c	MCK020	Meckel Syndrome, Type 11	21
934	c	ANM034	Anemia, Sideroblastic, 4	20
935	c	MRG012	Meier-Gorlin Syndrome 5	20
936	c	STC011	Stickler Syndrome, Type V	20
937		DYS134	Dysspondyloenchondromatosis	20
938		MNS012	Monostotic Fibrous Dysplasia	20
939		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
940		SPC002	Specific Bursitis Often of Occupational Origin	20
941	c	ART060	Arthrogryposis, Distal, Type 1b	20
942		CNG284	Congenital Pseudoarthrosis of the Tibia	20
943		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
944		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	20
945	c	TWN010	Townes-Brocks Syndrome 2	20
946	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	20
947	c	PRM150	Primary Localized Amyloidosis	20
948		CNG522	Congenital Disorder of Glycosylation with Defective Fucosylation	20
949	c	INF079	Inflammatory Bowel Disease 20	20
950		AFR001	African Histoplasmosis	20
951		INT182	Intermittent Hydrarthrosis	20
952		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	20
953		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	20
954	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	20
955	c	HYD042	Hydrocephalus, Autosomal Dominant	20
956	c	ANX008	Anauxetic Dysplasia 2	20
957		EHL064	Ehlers-Danlos Syndrome, Arthrochalasis Type	19
958	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
959	c	SCK032	Seckel Syndrome 6	19
960	c	STS009	Sotos Syndrome 3	19
961		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
962	c	SYS046	Systemic Lupus Erythematosus 3	19
963	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	19
964		MSM018	Mesomelic Limb Shortening and Bowing	19
965		ART136	Arthrogryposis, Distal, with Impaired Proprioception and Touch	19
966	c	PRM253	Premature Ovarian Failure 13	19
967	c	PRM090	Premature Ovarian Failure 6	19
968	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	19
969	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
970	c	CHL114	Chilblain Lupus 2	19
971	c	PRM091	Premature Ovarian Failure 2b	19
972		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
973	c	THR069	Three M Syndrome 2	19
974	c	SPN121	Spondylocostal Dysostosis 1	19
975	c	MLT078	Multiple Synostoses Syndrome 3	19
976		CRN224	Craniofaciofrontodigital Syndrome	19
977	c	CFF012	Coffin-Siris Syndrome 7	19
978		HST018	Histiocytosis, Progressive Mucinous	18
979		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
980	c	AHM002	Ah Amyloidosis	18
981	c	PLY103	Polydactyly, Postaxial, Type A5	18
982	c	SX2003	Six2-Related Frontonasal Dysplasia	18
983	c	PRM094	Premature Ovarian Failure 5	18
984		CTN031	Cutaneous Pseudolymphoma	18
985	c	PRM255	Premature Ovarian Failure 12	18
986	c	SYS051	Systemic Lupus Erythematosus 4	18
987		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
988	c	GLP007	Geleophysic Dysplasia 3	18
989	c	TRN062	Transient Neonatal Myasthenia Gravis	18
990		PPL038	Papular Xanthoma	18
991	c	PLY163	Polydactyly, Postaxial, Type A2	18
992	c	PSR022	Psoriasis 15, Pustular	18
993		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	18
994		IGG009	Igg4-Related Ophthalmic Disease	18
995		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	17
996	c	EHL090	Ehlers-Danlos Syndrome Type 7b	17
997	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
998	c	PRM191	Premature Ovarian Failure 9	17
999		IGG013	Igg4-Related Pachymeningitis	17
1000	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	17
1001		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
1002	c	XLN229	X-Linked Chondrodysplasia Punctata 2	17
1003	c	MRG016	Meier-Gorlin Syndrome 8	17
1004	c	INF073	Inflammatory Bowel Disease 12	17
1005	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	17
1006	c	OTS007	Otosclerosis 3	17
1007	c	CRN298	Carney Complex, Type 2	17
1008		MMM002	Mammary-Digital-Nail Syndrome	17
1009		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
1010	c	MLT166	Multiple Synostoses Syndrome 4	17
1011		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	17
1012		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	17
1013	c	SYM019	Symphalangism, Proximal, 1b	17
1014	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
1015		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	17
1016	c	SYS053	Systemic Lupus Erythematosus 5	17
1017	P	PRM176	Premature Ovarian Failure 2a	16
1018	c	RBN010	Robinow-Like Syndrome	16
1019	c	PLY101	Polydactyly, Postaxial, Type A6	16
1020	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	16
1021		BRC114	Brachyolmia Type 1, Hobaek Type	16
1022	c	EFM001	Efemp2-Related Cutis Laxa	16
1023		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
1024	c	SYS040	Systemic Lupus Erythematosus 10	16
1025		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
1026		RDL031	Radial Aplasia, X-Linked	16
1027	c	OTS012	Otosclerosis 10	16
1028	c	INF080	Inflammatory Bowel Disease 21	16
1029		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
1030		AML053	Amelia, Autosomal Recessive	16
1031		KLL015	Kallmann Syndrome with Spastic Paraplegia	16
1032	c	CNT108	Central Polydactyly	16
1033	P	ZYG003	Zygodactyly 1	16
1034	c	OTS010	Otosclerosis 7	16
1035		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	16
1036		FMR013	Femoral Agenesis/hypoplasia	16
1037	c	PLY144	Polydactyly, Postaxial, Type A7	15
1038		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	15
1039	c	PRM292	Premature Ovarian Failure 14	15
1040	c	SYS041	Systemic Lupus Erythematosus 9	15
1041	c	SYS055	Systemic Lupus Erythematosus 12	15
1042		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	15
1043		CNS012	Cono-Spondylar Dysplasia	15
1044	c	SPN226	Spondyloarthropathy 2	15
1045		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	15
1046	c	MTP014	Metaphyseal Anadysplasia 2	15
1047		IGG011	Igg4-Related Kidney Disease	15
1048		WHB001	Wahab Syndrome	15
1049		CHN047	Chondroectodermal Dysplasia with Night Blindness	15
1050		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	15
1051	c	SYS047	Systemic Lupus Erythematosus 7	15
1052		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	15
1053	c	INF091	Inflammatory Bowel Disease 8	15
1054	P	OTP002	Otopalatodigital Spectrum Disorders	15
1055		RNN006	Reunion Island Larsen Syndrome	15
1056		HYP497	Hyperphalangy	15
1057		HLL014	Hallux Varus and Preaxial Polysyndactyly	15
1058	c	DVL011	Developmental Dysplasia of the Hip 2	15
1059	c	OTS011	Otosclerosis 8	15
1060	c	SYS065	Systemic Lupus Erythematosus 11	15
1061	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	15
1062	c	SRC024	Sarcoidosis 3	14
1063		LRS009	Larsen-Like Syndrome, Lethal Type	14
1064	c	PRM295	Premature Ovarian Failure 15	14
1065		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1066		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
1067	c	OTS008	Otosclerosis 4	14
1068		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
1069		TRP023	Triphalangeal Thumbs and Dislocation of Patella	14
1070	c	INF076	Inflammatory Bowel Disease 18	14
1071		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
1072	c	SYN040	Synpolydactyly 3	14
1073		VRN007	Variant Abeta2m Amyloidosis	14
1074		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
1075	c	PSD023	Pseudo-Gaucher Disease	14
1076		TRM018	Traumatic Avascular Necrosis	14
1077		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	14
1078	c	OTS006	Otosclerosis 2	14
1079		DPH002	Diaphragma Sellae Meningioma	14
1080		CLV003	Clivus Meningioma	13
1081		SPH003	Sphenoorbital Meningioma	13
1082	c	HLL012	Hallermann-Streiff-Like Syndrome	13
1083	c	SYS045	Systemic Lupus Erythematosus 14	13
1084	c	SYS048	Systemic Lupus Erythematosus 8	13
1085	c	SYS052	Systemic Lupus Erythematosus 13	13
1086	c	INF083	Inflammatory Bowel Disease 24	13
1087	c	INF082	Inflammatory Bowel Disease 23	13
1088	c	INF085	Inflammatory Bowel Disease 27	13
1089	c	INF084	Inflammatory Bowel Disease 26	13
1090	c	INF074	Inflammatory Bowel Disease 15	13
1091	c	INF081	Inflammatory Bowel Disease 22	13
1092	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	13
1093	c	PLY054	Polydactyly, Postaxial, Type A4	13
1094		CRN204	Craniofacial Conodysplasia	13
1095		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	13
1096		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
1097		ACH028	Acheiria	13
1098		HND012	Handigodu Joint Disease	13
1099	c	MXD037	Mixed Cryoglobulinemia Type Iii	13
1100	c	ACQ036	Acquired Angioedema Type 2	13
1101		APV001	Aapoaiv Amyloidosis	12
1102		SYM014	Symbrachydactyly of Hands and Feet	12
1103		BCP001	Bicipital Tenosynovitis	12
1104	c	SYS067	Systemic Lupus Erythematosus 15	12
1105	c	INF161	Inflammatory Bowel Disease 28	12
1106	c	SYN050	Syndactyly Type 6	12
1107	c	PLY053	Polydactyly, Postaxial, Type A3	12
1108		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	12
1109		INT058	Intraorbital Meningioma	12
1110	c	TYP003	Type I Ehlers-Danlos Syndrome	12
1111		BST002	Baastrup's Syndrome	12
1112		IGG010	Igg4-Related Aortitis	12
1113	c	PRM222	Primary Polyarteritis Nodosa	12
1114		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	12
1115		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
1116	c	INF170	Inflammatory Bowel Disease 29	12
1117		IDP040	Idiopathic Eosinophilic Myositis	12
1118	c	OTS009	Otosclerosis 5	11
1119	c	SPN122	Spondylocostal Dysostosis 2	11
1120	c	SPN256	Spondyloarthropathy 3	11
1121		PRM233	Primary Cutaneous Plasmacytosis	11
1122	c	FBL003	Fbln5-Related Cutis Laxa	11
1123		9Q3002	9q33.3q34.11 Microdeletion Syndrome	11
1124		CLV001	Clivus Chondroid Chordoma	11
1125	c	SPN124	Spondylocostal Dysostosis 4	11
1126	c	SPN123	Spondylocostal Dysostosis 3	11
1127		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1128		CRN261	Craniosynostosis-Cataract Syndrome	10
1129		PTT005	Pituitary Stalk Meningioma	10
1130		GLS016	Glossopalatine Ankylosis	10
1131		ORB001	Orbit Alveolar Rhabdomyosarcoma	10
1132	c	PLY178	Polydactyly, Postaxial, Type A8	10
1133		HMR042	Humero-Ulnar Synostosis	10
1134		FBR007	Fibroosseous Pseudotumor of Digits	10
1135		INF009	Inflammatory Spondylopathy	10
1136		ALC030	Alect2 Amyloidosis	10
1137		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1138		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1139	c	ZYG007	Zygodactyly Type 3	10
1140	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	10
1141		CNG277	Congenital Pseudoarthrosis of the Fibula	10
1142	c	ANT021	Anterior Foramen Magnum Meningioma	10
1143		ULN014	Ulnar Hemimelia	9
1144		ISC011	Ischio-Vertebral Syndrome	9
1145		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1146	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	9
1147		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
1148	c	ZYG006	Zygodactyly Type 2	9
1149		CNG279	Congenital Pseudoarthrosis of the Ulna	9
1150	c	ACQ035	Acquired Angioedema Type 1	9
1151		SCR036	Sacrum Chordoma	9
1152		SMP006	Simple Cryoglobulinemia	9
1153		BHC001	Behcet's Syndrome Arthropathy	8
1154		TBF001	Tibio-Fibular Synostosis	8
1155		AML037	Amelia of Upper Limb	8
1156		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	8
1157		CNG283	Congenital Pseudoarthrosis of the Femur	8
1158		CNG278	Congenital Pseudoarthrosis of the Radius	8
1159	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1160	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1161	c	SCN055	Secondary Polyarteritis Nodosa	8
1162	c	PST023	Posterior Foramen Magnum Meningioma	8
1163		APD003	Apodia	8
1164		LWR003	Lower Clivus Meningioma	8
1165		UPP001	Upper Clivus Meningioma	8
1166		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1167		CLC050	Calciphylaxis Cutis	8
1168		BPR001	Bipartite Talus	8
1169	c	ZYG005	Zygodactyly Type 4	8
1170	c	CNG348	Congenital Sialidosis Type 2	7
1171	c	TRN008	Transient Arthropathy	7
1172	P	JVN036	Juvenile Sialidosis Type 2	7
1173	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
1174	c	JVN030	Juvenile Overlap Myositis	7
1175		PRN048	Prenatal Benign Hypophosphatasia	7
1176		SPH002	Sphenocavernous Meningioma	7
1177		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	7
1178		SNG013	Single-Organ Polyarteritis Nodosa	7
1179		HMR031	Humeral Agenesis/hypoplasia	7
1180		HYP500	Hyperphalangy, Unilateral	7
1181		NNT045	Neonatal Autoimmune Hemolytic Anemia	7
1182	c	PRD018	Periodontitis, Aggressive, 2	7
1183	c	MLT004	Multiple Skull Base Meningioma	6
1184		CNG287	Congenital Absence of Both Forearm and Hand	6
1185		RDL019	Radio-Ulnar Synostosis, Unilateral	6
1186		CNG289	Congenital Absence/hypoplasia of Thumb	6
1187		HYP501	Hyperphalangy, Bilateral	6
1188		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
1189		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
1190		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
1191		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1192		HYP010	Hypermobility of Coccyx	6
1193		DGT008	Digital Anomalies-Intellectual Disability-Short Stature Syndrome	6
1194		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1195		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
1196		ISL026	Isolated Sternocostoclavicular Hyperostosis	6
1197		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
1198		RDL020	Radio-Ulnar Synostosis, Bilateral	6
1199		PHL011	Phalanx Chondroma	6
1200		HMR036	Humero-Ulnar Synostosis, Unilateral	6
1201		UNS002	Unspecified Juvenile Idiopathic Arthritis	6
1202		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1203		HMR037	Humero-Ulnar Synostosis, Bilateral	6
1204		ACR100	Acrofacial Dysostosis, Patagonia Type	6
1205		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	5
1206	c	OTS004	Otosclerosis, Familial	5
1207		DYS128	Dysplasia of Head of Femur, Meyer Type	5
1208		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1209		MDL018	Madelung Deformity, Unilateral	5
1210		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1211		CHR512	Cheirospondyloenchondromatosis	5
1212		VSC036	Visceral Calciphylaxis	5
1213		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
1214		TNS002	Tenosynovitis of Foot and Ankle	5
1215		AML036	Amelia of Lower Limb	5
1216		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
1217		MDL017	Madelung Deformity, Bilateral	5
1218		GNC002	Gonococcal Bursitis	5
1219		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1220		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
1221		GNC006	Gonococcal Spondylitis	4
1222		SCN050	Secondary Non-Traumatic Avascular Necrosis	4
1223	c	CXV001	Coxa Vara, Congenital	4
1224		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
1225		PRG089	Progeria-Associated Arthropathy	3
1226		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	3
1227		MDF001	Midface Dysplasia	3
1228		SHW005	Shwachman-Diamond Type Metaphyseal Dysplasia	3
1229	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	46
1230		GRN013	Greenberg Dysplasia	36
1231		CRD221	Cardiospondylocarpofacial Syndrome	44
1232		BKS003	Beukes Hip Dysplasia	32
1233		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
1234		THM023	Thiemann Disease	20
1235		MCC012	Mccune-Albright Syndrome	66
1236	c	LYS021	Loeys-Dietz Syndrome 3	54
1237		ANT003	Antley-Bixler Syndrome	51
1238		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	37
1239	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	28
1240	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	20
1241		CMP005	Campomelic Dysplasia	65
1242	P	MLT007	Multiple Epiphyseal Dysplasia	57
1243	P	CMR001	Camurati-Engelmann Disease	56
1244	P	THR117	Three M Syndrome 1	52
1245		CHN054	Chondrodysplasia, Blomstrand Type	45
1246	P	PRM018	Primary Hypertrophic Osteoarthropathy	45
1247	P	BLN001	Blount's Disease	39
1248		NST002	Nestor-Guillermo Progeria Syndrome	29
1249		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
1250		QZM001	Qazi Markouizos Syndrome	15
1251		OST141	Osteoclastic Giant Cell Tumor of Pancreas	14
1252		NLP001	Nail-Patella Syndrome	55
1253	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	51
1254	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	23
1255		OST150	Osteodysplasia, Familial, Anderson Type	18
1256		SCH068	Schwartz-Jampel Syndrome, Type 1	55
1257		PSD014	Pseudopseudohypoparathyroidism	51
1258		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	49
1259		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	41
1260		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	19
1261	P	CLD001	Cleidocranial Dysplasia	65
1262		WVR001	Weaver Syndrome	54
1263		MLT145	Multiple Enchondromatosis, Maffucci Type	52
1264		FLT006	Floating-Harbor Syndrome	45
1265		PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	38
1266		STY001	Satoyoshi Syndrome	32
1267	c	CLD018	Cleidocranial Dysplasia, Recessive Form	16
1268		FRB005	Freiberg's Disease	14
1269	c	SPN225	Spondyloarthropathy 1	75
1270		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	53
1271		SPH001	Sapho Syndrome	53
1272		YNS002	Yunis-Varon Syndrome	49
1273		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	45
1274		FRN039	Frank-Ter Haar Syndrome	38
1275	c	ATL011	Atelosteogenesis, Type I	33
1276		KYP002	Kyphomelic Dysplasia	28
1277	c	JVN047	Juvenile Spondyloarthropathy	25
1278		SPN008	Spondyloepiphyseal Dysplasia Congenita	57
1279		PSD012	Pseudoachondroplasia	51
1280		PYC001	Pycnodysostosis	50
1281		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	49
1282		PYL017	Pyle Disease	48
1283	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	45
1284		LRW001	Leri-Weill Dyschondrosteosis	42
1285		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	42
1286		STV003	Stuve-Wiedemann Syndrome	40
1287	c	OTP006	Otopalatodigital Syndrome, Type I	40
1288		RHY001	Rhyns Syndrome	39
1289		RHM009	Rheumatoid Lung Disease	37
1290	c	ATL015	Atelosteogenesis, Type Ii	30
1291	c	BRC047	Bruck Syndrome 1	27
1292		GRR002	Gurrieri Syndrome	24
1293		BRC095	Brachydactyly, Mononen Type	18
1294		BMR003	Beemer Ertbruggen Syndrome	10
1295		CRP001	Carpal Tunnel Syndrome	71
1296	P	HYP035	Hypophosphatasia	59
1297		ALK013	Alkaptonuria	58
1298		ARM001	Aromatase Deficiency	52
1299		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	46
1300	c	DSB006	Desbuquois Dysplasia 1	45
1301	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	37
1302		MTC018	Metachondromatosis	33
1303		ACR016	Acromesomelic Dysplasia	33
1304		SPN154	Spondyloperipheral Dysplasia	31
1305	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	23
1306		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	23
1307		BNP001	Bone Peripheral Neuroepithelioma	15
1308		PNT007	Penttinen-Aula Syndrome	10
1309		WDM002	Wiedemann Oldigs Oppermann Syndrome	7
1310		SRC014	Sarcoma	70
1311		RBR001	Roberts Syndrome	60
1312		SPN041	Spinal Cord Disease	52
1313		CFF003	Caffey Disease	52
1314		SYN031	Synovial Chondromatosis	48
1315	c	TRC092	Trichorhinophalangeal Syndrome, Type I	48
1316	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	46
1317		BRD001	Brody Myopathy	43
1318		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	42
1319		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	37
1320		LTR009	Lateral Meningocele Syndrome	36
1321		MTT002	Metatropic Dysplasia	35
1322		HYP596	Hypophosphatasia, Childhood	33
1323	c	ACR044	Acroosteolysis Dominant Type	33
1324	P	SNG014	Singleton-Merten Syndrome	31
1325		TRC118	Trichodentoosseous Syndrome	31
1326	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
1327		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	29
1328		SPR031	Sprengel Deformity	28
1329		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	28
1330		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	26
1331		SCR025	Scarf Syndrome	25
1332		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	25
1333	c	BRC048	Bruck Syndrome 2	24
1334		GRN016	Grant Syndrome	21
1335		ULN007	Ulna Metaphyseal Dysplasia Syndrome	18
1336	c	VNB004	Van Buchem Disease, Type 2	18
1337		BTT012	Battaglia-Neri Syndrome	8
1338		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
1339	P	MSC005	Muscular Dystrophy	66
1340	c	MSC165	Muscular Dystrophy, Congenital, Lmna-Related	66
1341		CRZ001	Crouzon Syndrome	65
1342	P	MYP004	Myopathy	63
1343		HLT001	Holt-Oram Syndrome	60
1344	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	60
1345		ELL001	Ellis-Van Creveld Syndrome	59
1346	c	MYP132	Myopathy, Congenital	54
1347	P	PLG001	Pelger-Huet Anomaly	53
1348	P	LRS001	Larsen Syndrome	53
1349		OCC006	Occipital Horn Syndrome	52
1350	c	MSC050	Muscular Dystrophy, Congenital, 1b	51
1351		BLL001	Baller-Gerold Syndrome	51
1352		CRN005	Craniofrontonasal Syndrome	48
1353		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	47
1354	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	46
1355	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	45
1356	P	KLP003	Klippel-Feil Syndrome	44
1357	c	LRS002	Larsen-Like Syndrome	43
1358		ACH001	Acheiropody	42
1359		RHM014	Rheumatoid Vasculitis	40
1360		PTC001	Potocki-Shaffer Syndrome	38
1361	P	SMT022	Smith-Mccort Dysplasia 1	38
1362	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	38
1363		DNT045	Dental Anomalies and Short Stature	37
1364		CHN057	Chondrodysplasia, Grebe Type	36
1365		LNG040	Langer Mesomelic Dysplasia	35
1366	c	CNG112	Congenital Muscular Dystrophy Type 1a	35
1367		12Q002	12q14 Microdeletion Syndrome	31
1368		DGT005	Digital Arthropathy-Brachydactyly, Familial	31
1369		WSM003	Weismann-Netter Syndrome	30
1370		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	30
1371	c	ATL012	Atelosteogenesis, Type Iii	29
1372		BNM005	Bone Marrow Necrosis	29
1373	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	28
1374		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	28
1375	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	28
1376		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	27
1377		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
1378	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	26
1379	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	26
1380	c	CMR006	Camurati-Engelmann Disease, Type 2	24
1381		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	23
1382		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	23
1383	c	LM2001	Lama2-Related Muscular Dystrophy	20
1384		SHR023	Short Stature Syndrome, Brussels Type	19
1385		FBL014	Fibular Hemimelia	18
1386	c	GNR020	Gne-Related Myopathy	18
1387	c	CHN021	Chondrocalcinosis 1	17
1388		VND003	Van Den Bosch Syndrome	16
1389	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	16
1390	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	16
1391	c	CNG441	Congenital Muscular Dystrophy Due to Dystroglycanopathy	14
1392		HNT009	Hunter-Mcalpine Syndrome	14
1393		MGC006	Magic Syndrome	13
1394	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	12
1395	c	PSD024	Pseudo Pelger-Huet Anomaly	11
1396		VRL015	Verloes Van Maldergem Marneffe Syndrome	10
1397		MCH009	Michels Caskey Syndrome	9
1398		RZN001	Rozin Hertz Goodman Syndrome	8
1399	c	BNG038	Benign Autosomal Dominant Myopathy	6
1400		PTT018	Petit-Fryns Syndrome	6
1401		WRN001	Werner Syndrome	70
1402		SCH036	Scheie Syndrome	69
1403	P	KLL001	Kallmann Syndrome	64
1404	P	MLG056	Malignant Hyperthermia	62
1405		MNK003	Muenke Syndrome	61
1406		SPN060	Spondylocarpotarsal Synostosis Syndrome	60
1407	c	SVR003	Severe Congenital Neutropenia	58
1408	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	57
1409	P	STC001	Stickler Syndrome	56
1410		RLP001	Relapsing Polychondritis	56
1411		ARS001	Aarskog-Scott Syndrome	56
1412	P	CNT004	Centronuclear Myopathy	55
1413	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	53
1414	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1415		JCK001	Jackson-Weiss Syndrome	52
1416	P	CRN013	Craniodiaphyseal Dysplasia	51
1417		CNN011	Cenani-Lenz Syndactyly Syndrome	51
1418	P	FBR025	Fibrochondrogenesis	50
1419		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	49
1420	P	SCL048	Sclerosteosis	49
1421	P	OCL001	Ocular Albinism	49
1422		ACR013	Acrodysostosis	46
1423		MYP100	Myopathy, X-Linked, with Excessive Autophagy	46
1424	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	46
1425		CNT060	Central Serous Chorioretinopathy	45
1426		PYM001	Pyomyositis	45
1427	c	MYP123	Myopathy, Centronuclear, 1	43
1428	P	ANX007	Anauxetic Dysplasia 1	42
1429		HYP776	Hyperparathyroidism, Neonatal Severe	42
1430		SPR126	Superior Semicircular Canal Dehiscence	41
1431	c	MYP131	Myopathy, Centronuclear, 2	40
1432	c	MLG147	Malignant Hyperthermia 1	40
1433		MSS002	Mass Syndrome	39
1434	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	39
1435		MYT030	Myotonia, Potassium-Aggravated	39
1436		TRC097	Tracheomalacia	38
1437		ISC016	Ischiocoxopodopatellar Syndrome	36
1438		IMM073	Immunoglobulin a Vasculitis	36
1439		DYS048	Dysplasia Epiphysealis Hemimelica	36
1440		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	36
1441	c	ALB024	Albinism, Ocular, Type I	35
1442	c	STC015	Stickler Syndrome, Type I	34
1443		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	34
1444		3MC001	3mc Syndrome 2	34
1445		SCH030	Schneckenbecken Dysplasia	32
1446		MSM004	Mesomelia-Synostoses Syndrome	30
1447	c	STC013	Stickler Syndrome, Type Ii	30
1448		VRH001	Verheij Syndrome	27
1449	c	MYP148	Myopathy, Centronuclear, 5	27
1450	c	BRC045	Brachyolmia Type 3	26
1451		PRS051	Parastremmatic Dwarfism	25
1452	c	THR110	Thrombocytopenia 6	24
1453		OSB001	Osebold-Remondini Syndrome	24
1454		SHS001	Shashi-Pena Syndrome	23
1455	c	MLG148	Malignant Hyperthermia 2	23
1456	c	MLG149	Malignant Hyperthermia 3	23
1457	c	MYP098	Myopathy, Centronuclear, 4	22
1458		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	22
1459	c	MLG150	Malignant Hyperthermia 4	22
1460	c	MLG151	Malignant Hyperthermia 5	21
1461	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
1462	P	CLL020	Collagenopathy Type 2 Alpha 1	20
1463		BSL042	Basilar Impression, Primary	20
1464	c	MYP096	Myopathy, Centronuclear, 3	19
1465		GLP002	Geleophysic Dwarfism	18
1466		RBB001	Ribbing Disease	18
1467	c	MLG152	Malignant Hyperthermia 6	17
1468	c	STC007	Stickler Syndrome, Type 3	17
1469		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	16
1470		PRM291	Premature Aging Syndrome, Okamoto Type	15
1471		BNK001	Banki Syndrome	14
1472		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	14
1473		VNB002	Van Bogaert-Hozay Syndrome	13
1474		DGH001	Doughnut Lesions of Skull, Familial	13
1475		ANP010	Anaplastic Plasmacytoma	12
1476		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	12
1477	c	KLL008	Kallmann Syndrome 6	11
1478		FYP001	Faye-Petersen-Ward-Carey Syndrome	11
1479		SKL024	Skeletal-Extraskeletal Angiomatosis	10
1480	c	KLL006	Kallmann Syndrome 4	10
1481	c	KLL005	Kallmann Syndrome 3	10
1482		CTK001	Cote Katsantoni Syndrome	9
1483	c	KLL007	Kallmann Syndrome 5	9
1484		MGR005	Megarbane Syndrome	9
1485		PNS013	Panostotic Fibrous Dysplasia	8
1486		SKL009	Skeletal Dysplasia, San Diego Type	8
1487	c	CLL016	Collagenopathy, Types Ii and Xi	7
1488		RCH003	Richieri Costa Da Silva Syndrome	6
1489		CRT006	Cartilage Cancer	6
1490		THD001	Theodor Hertz Goodman Syndrome	6
1491		TRC050	Tricho-Dento-Osseous Syndrome 1	6
1492		HKF001	Ho Kaufman Mcalister Syndrome	6
1493		PNT008	Pointer Syndrome	6
1494		ALS004	Alsing Syndrome	5
1495		KZL005	Kozlowski Warren Fisher Syndrome	5
1496		SND004	Sandhaus Ben-Ami Syndrome	5
1497		CHT003	Chitty Hall Webb Syndrome	5
1498		SLV009	Slavotinek Pike Mills Hurst Syndrome	5
1499		RGN002	Reginato Shiapachasse Syndrome	4
1500		VGN025	Vagneur Triolle Ripert Syndrome	4
1501		LCK002	Lockwood Feingold Syndrome	4
1502		OST060	Osteosclerosis Abnormalities of Nervous System and Meninges	3
1503		SKL010	Skeleto Cardiac Syndrome with Thrombocytopenia	3
1504	P	RHM011	Rheumatoid Arthritis	82
1505	P	BDY004	Body Mass Index Quantitative Trait Locus 11	78
1506	P	GRF003	Graft-Versus-Host Disease	72
1507		APR006	Apert Syndrome	69
1508		TKY002	Takayasu Arteritis	67
1509		ADL030	Adult-Onset Still's Disease	67
1510	c	MCL062	Mucolipidosis Ii Alpha/beta	66
1511	c	CHR417	Chronic Graft Versus Host Disease	66
1512		INC002	Inclusion Body Myositis	66
1513		SPN186	Spinal Cord Injury	65
1514	P	CRN015	Cornelia De Lange Syndrome	62
1515		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	62
1516		SPN027	Spinal Stenosis	61
1517		PLS011	Plasmacytoma	60
1518	c	ALM001	Al Amyloidosis	60
1519	c	RHB024	Rhabdomyosarcoma 2	59
1520	P	PLY006	Polydactyly	59
1521		SMT008	Smith-Magenis Syndrome	58
1522		MCR088	Microscopic Polyangiitis	58
1523		GRG001	Greig Cephalopolysyndactyly Syndrome	58
1524		ANT009	Antithrombin Iii Deficiency	58
1525		CHR619	Chromosome 2q35 Duplication Syndrome	58
1526	P	PLY041	Polymyositis	58
1527		HYP730	Hypogonadotropic Hypogonadism	58
1528	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	58
1529	P	RHB003	Rhabdomyosarcoma	57
1530	c	ACT135	Acute Graft Versus Host Disease	57
1531		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	57
1532	c	AMY009	Amyloidosis Aa	56
1533	P	STS008	Sotos Syndrome 1	56
1534	P	SCK004	Seckel Syndrome	55
1535		ACR011	Acromesomelic Dysplasia, Maroteaux Type	55
1536		ANT039	Antisynthetase Syndrome	55
1537	P	INF037	Inflammatory Bowel Disease	54
1538	c	BRC078	Brachydactyly, Type A1	54
1539	c	BRC051	Brachydactyly, Type B1	54
1540	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	54
1541		SCH002	Schnitzler Syndrome	54
1542		BLD053	Blood Platelet Disease	53
1543		VTM027	Vitamin D-Dependent Rickets, Type 2a	53
1544	c	INF071	Inflammatory Bowel Disease 1	53
1545		ESN015	Eosinophilic Fasciitis	52
1546	P	MYP087	Myopathy, Tubular Aggregate, 1	52
1547	P	WLL002	Weill-Marchesani Syndrome	52
1548	P	NLD001	Nail Disease	51
1549		SPN020	Spondylosis	51
1550	c	BRC109	Brachydactyly, Type E1	51
1551		PLN005	Palindromic Rheumatism	51
1552	c	ART120	Arthrogryposis, Distal, Type 3	50
1553		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	50
1554	P	BRC006	Brachydactyly	50
1555		HYP088	Hyper-Igd Syndrome	50
1556	P	PRX021	Proximal Symphalangism	49
1557	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1558	c	HRD039	Hereditary Amyloidosis	49
1559	c	ART144	Arthrogryposis, Distal, Type 1a	49
1560	P	ANL018	Analbuminemia	48
1561	c	BRC079	Brachydactyly, Type A2	48
1562	P	NML001	Nemaline Myopathy	48
1563		NSD001	Nose Disease	47
1564		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
1565	c	BDY007	Body Mass Index Quantitative Trait Locus 1	47
1566	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
1567	c	RBN009	Robinow Syndrome, Autosomal Recessive	46
1568	c	ATS082	Autosomal Dominant Robinow Syndrome	45
1569		MCR225	Macrophage Activation Syndrome	45
1570	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1571		CHN010	Chondroma	44
1572		TRS002	Tarsal-Carpal Coalition Syndrome	44
1573		PST049	Postaxial Acrofacial Dysostosis	44
1574	c	BRC081	Brachydactyly, Type C	44
1575		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	44
1576		HRT030	Hartsfield Syndrome	44
1577		BRS064	Bursitis	44
1578		HND004	Hand-Foot-Genital Syndrome	43
1579	c	CRN243	Carney Complex, Type 1	43
1580		ENT004	Enthesopathy	43
1581	P	PLY147	Polydactyly, Postaxial, Type A1	43
1582	c	MCK032	Meckel Syndrome, Type 3	43
1583	c	SYS007	Systemic Capillary Leak Syndrome	42
1584	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	42
1585	c	BDY019	Body Mass Index Quantitative Trait Locus 18	42
1586	P	SCL057	Scoliosis, Isolated 1	42
1587		IMM082	Immunodeficiency 18	42
1588		ATN011	Autoinflammation with Infantile Enterocolitis	42
1589	c	MCP047	Mucopolysaccharidosis, Type Iva	42
1590		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
1591	c	SPN330	Spondylocostal Dysostosis 5	41
1592		CRR002	Currarino Syndrome	41
1593	c	BDY020	Body Mass Index Quantitative Trait Locus 19	41
1594	c	CRN278	Craniosynostosis 1	41
1595	c	FNC024	Fanconi Anemia, Complementation Group D1	41
1596	P	PST059	Pustular Psoriasis	41
1597	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
1598	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	40
1599		ASK001	Askin's Tumor	40
1600	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	40
1601		LRN006	Laurin-Sandrow Syndrome	40
1602		PRM057	Paramyotonia Congenita of Von Eulenburg	40
1603	c	SCN005	Secondary Hypertrophic Osteoarthropathy	40
1604		PSR016	Psoriatic Juvenile Idiopathic Arthritis	40
1605	c	BDY011	Body Mass Index Quantitative Trait Locus 10	40
1606		SYN086	Synostoses, Tarsal, Carpal, and Digital	40
1607		DYG001	Dyggve-Melchior-Clausen Disease	40
1608	c	ADM005	Adams-Oliver Syndrome 1	39
1609	c	MCK031	Meckel Syndrome, Type 2	39
1610	c	ADL027	Adult Dermatomyositis	39
1611		CPM001	Cap Myopathy	39
1612	P	SPL061	Split Hand-Foot Malformation	39
1613	c	SPL024	Split-Hand/foot Malformation 3	39
1614	P	SYN012	Synpolydactyly	38
1615		ORB012	Orbital Cancer	38
1616		MLG141	Malignant Atrophic Papulosis	38
1617		RVL002	Ruvalcaba Syndrome	38
1618	c	PSD106	Pseudo-Torch Syndrome 1	38
1619		MSN004	Mesenchymal Cell Neoplasm	38
1620		FBR089	Fibrosclerosis, Multifocal	37
1621	c	FML117	Familial Cold Autoinflammatory Syndrome 2	37
1622	c	SYS061	Systemic Lupus Erythematosus 16	37
1623		XNT009	Xanthoma Disseminatum	37
1624		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	37
1625	P	YWS001	Yaws	36
1626		OCH001	Ochronosis	36
1627		MYC015	Mycobacterium Fortuitum	36
1628	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	36
1629		TNS014	Tenosynovitis	36
1630	P	CRB154	Cerebrocostomandibular Syndrome	36
1631	c	SRC023	Sarcoidosis 2	36
1632	c	OST110	Osteogenesis Imperfecta, Type Xv	35
1633	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	35
1634		DSM002	Desmosterolosis	35
1635		MSC012	Muscular Dystrophy, Duchenne and Becker Type	35
1636		FMR018	Femoral-Facial Syndrome	35
1637	P	SYN059	Syndactyly, Type V	35
1638	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
1639		WLN001	Welander Distal Myopathy	35
1640		ENC014	Enchondroma	35
1641	P	ACR106	Acrocephalopolysyndactyly Type Iii	34
1642		SPL068	Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive	34
1643		NRG003	Neurogenic Arthropathy	34
1644		LMB008	Limb-Mammary Syndrome	34
1645		FML307	Familial Calcium Pyrophosphate Deposition	34
1646	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
1647		HMF010	Hemifacial Microsomia with Radial Defects	33
1648		CYT014	Cytochrome P450 Oxidoreductase Deficiency	33
1649	c	OST133	Osteogenesis Imperfecta, Type Xi	33
1650	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
1651	c	BDY005	Body Mass Index Quantitative Trait Locus 9	33
1652	P	DVL012	Developmental Dysplasia of the Hip 1	33
1653	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	33
1654		TTH001	Tooth Ankylosis	32
1655		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	32
1656		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	32
1657	c	BDY015	Body Mass Index Quantitative Trait Locus 12	32
1658	c	KNN009	Kenny-Caffey Syndrome, Type 1	32
1659	P	ACR093	Acrofrontofacionasal Dysostosis	32
1660	P	PRD037	Periodontal Ehlers-Danlos Syndrome	31
1661	P	PLY148	Polydactyly, Preaxial Ii	31
1662	c	BDY010	Body Mass Index Quantitative Trait Locus 4	31
1663	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	31
1664		NPH098	Nephrolithiasis, X-Linked Recessive, with Renal Failure	31
1665	c	BDY012	Body Mass Index Quantitative Trait Locus 7	31
1666	c	BDY006	Body Mass Index Quantitative Trait Locus 8	31
1667	c	OMD001	Omodysplasia 1	31
1668		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	31
1669		CLV004	Calvarial Hyperostosis	31
1670	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
1671		ORB009	Orbit Lymphoma	31
1672		UND007	Undifferentiated Connective Tissue Disease	30
1673		MSM016	Mesomelic Dysplasia, Kantaputra Type	30
1674		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	30
1675		TBL008	Tibial Hemimelia	30
1676		HMR015	Humeroradial Synostosis	30
1677		INN003	Iniencephaly	30
1678		KLB005	Kleeblattschaedel	30
1679		MTP028	Metaphyseal Dysplasia, Spahr Type	30
1680	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
1681	c	SYN061	Syndactyly, Type Iv	29
1682		WLD004	Wildervanck Syndrome	29
1683	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
1684		FRN022	Frontofacionasal Dysplasia	29
1685	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
1686		OCL040	Oculomaxillofacial Dysostosis	29
1687	c	OST127	Osteogenesis Imperfecta, Type X	29
1688	c	CRN277	Craniosynostosis 2	29
1689		ACR099	Acrofacial Dysostosis, Catania Type	28
1690		CTN019	Cutaneous Polyarteritis Nodosa	28
1691	c	ADM007	Adams-Oliver Syndrome 2	28
1692	P	LTH003	Lethal Congenital Contracture Syndrome	28
1693	c	CRN134	Cornelia De Lange Syndrome 2	28
1694		MDL024	Madelung Deformity	28
1695	c	ACR084	Aicardi-Goutieres Syndrome 7	28
1696		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
1697		LKN024	Leukoencephalopathy, Brain Calcifications, and Cysts	27
1698	c	PLY149	Polydactyly, Preaxial Iv	27
1699	c	CRN281	Craniosynostosis 7	27
1700	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	27
1701		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	27
1702		SPN125	Spondyloenchondrodysplasia	27
1703		BJL001	Bejel	27
1704	c	DNT021	Dent Disease 2	27
1705		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	27
1706	c	ADM010	Adams-Oliver Syndrome 5	27
1707	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	27
1708		AKL001	Au-Kline Syndrome	27
1709		PST044	Postorgasmic Illness Syndrome	27
1710		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	27
1711		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	27
1712		RMR001	Ramer Ladda Syndrome	27
1713		HYP682	Hypertelorism, Teebi Type	27
1714		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	27
1715		STR017	Sternum Cancer	26
1716		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	26
1717	c	SYN060	Syndactyly, Type Iii	26
1718		EF001	Eaf	26
1719	c	BRC099	Brachydactyly, Type A4	26
1720		FBR028	Fibrosing Mediastinitis	26
1721		HYP648	Hypertension and Brachydactyly Syndrome	26
1722	c	CRN110	Cranioectodermal Dysplasia 3	26
1723	c	LYS020	Loeys-Dietz Syndrome 5	26
1724		NCR009	Necrobiotic Xanthogranuloma	26
1725	c	FRN048	Frontometaphyseal Dysplasia 2	26
1726	c	OMD002	Omodysplasia 2	26
1727		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	26
1728	P	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	26
1729	c	PRT063	Proteus-Like Syndrome	26
1730	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	26
1731		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	26
1732		TMP008	Tempi Syndrome	26
1733	c	ACR105	Acrofrontofacionasal Dysostosis 2	26
1734	c	OST139	Osteogenesis Imperfecta, Type Xvi	26
1735	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	25
1736		PLY135	Polydactyly, Postaxial, with Progressive Myopia	25
1737		SHR108	Short Stature, Idiopathic, X-Linked	25
1738		CHR159	Charlie M Syndrome	25
1739		CHR588	Chromosome 8q22.1 Duplication Syndrome	25
1740		HSH001	Hashimoto-Pritzker Syndrome	25
1741	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
1742		VSC050	Vascular Malformation, Primary Intraosseous	25
1743		INT189	Interstitial Granulomatous Dermatitis with Arthritis	25
1744	c	BRT028	Brittle Cornea Syndrome 1	25
1745		PSD030	Pseudodiastrophic Dysplasia	25
1746	c	ART112	Arthrogryposis, Distal, Type 10	25
1747		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
1748		NVR001	Nievergelt Syndrome	24
1749	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	24
1750		OCL030	Oculoauriculofrontonasal Syndrome	24
1751		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	24
1752	c	INF144	Inflammatory Skin and Bowel Disease, Neonatal, 1	24
1753	c	CNG514	Congenital Radioulnar Synostosis	24
1754	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	24
1755		SYM024	Symphalangism, Distal	24
1756	c	CRN111	Cranioectodermal Dysplasia 4	24
1757	c	OST138	Osteogenesis Imperfecta, Type Xvii	24
1758		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	24
1759	c	JVN019	Juvenile Temporal Arteritis	24
1760	c	OST106	Osteopetrosis, Autosomal Recessive 8	24
1761	c	INF077	Inflammatory Bowel Disease 19	24
1762	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	24
1763	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	24
1764		ACR107	Acrofacial Dysostosis, Palagonia Type	24
1765	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	24
1766		PRP090	Peripheral Dysostosis	24
1767		ACR079	Acrodysostosis with Multiple Hormone Resistance	24
1768	c	MCK026	Meckel Syndrome 12	24
1769		IMM120	Immunodeficiency 40	24
1770	P	TRC034	Torch Syndrome	24
1771		FMR016	Femur-Fibula-Ulna Syndrome	23
1772	c	NML025	Nemaline Myopathy 8	23
1773		SCH024	Schinzel Giedion Syndrome	23
1774		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	23
1775	c	BRC108	Brachydactyly, Type A3	23
1776		TBS009	Teebi-Shaltout Syndrome	23
1777		ATM086	Autoimmune Interstitial Lung, Joint, and Kidney Disease	23
1778		ATN016	Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated	23
1779		PYR008	Pyriform Sinus Cancer	23
1780		SLL002	Sella Turcica Neoplasm	23
1781	c	LTH027	Lethal Congenital Contracture Syndrome 5	23
1782		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	23
1783		BRN123	Branchial Arch Syndrome, X-Linked	23
1784		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	23
1785	c	NNT025	Neonatal Systemic Lupus Erythematosus	23
1786	c	TRC071	Treacher Collins Syndrome 3	22
1787		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	22
1788	c	PRV018	Periventricular Nodular Heterotopia 7	22
1789		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	22
1790		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	22
1791	c	ACR108	Acrocephalopolysyndactyly Type Iv	22
1792	c	CRN256	Craniosynostosis 6	22
1793	c	ADM009	Adams-Oliver Syndrome 4	22
1794	c	ADM012	Adams-Oliver Syndrome 6	22
1795		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1796		THV001	Thauvin-Robinet-Faivre Syndrome	22
1797		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
1798	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	22
1799	c	ADM008	Adams-Oliver Syndrome 3	22
1800	P	FML337	Familial Chilblain Lupus	22
1801		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	21
1802		ACR019	Acropectoral Syndrome	21
1803	c	CRN217	Craniosynostosis 3	21
1804		IND009	Indeterminate Cell Histiocytosis	21
1805	c	INF146	Inflammatory Skin and Bowel Disease, Neonatal, 2	21
1806	c	MYP088	Myopathy, Tubular Aggregate, 2	21
1807	c	PLY136	Polydactyly, Preaxial I	21
1808	c	SHW007	Shwachman-Diamond Syndrome 2	21
1809	c	ART128	Arthrogryposis, Distal, Type 6	21
1810	c	INC015	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2	21
1811		CRY024	Crystal Arthropathies	21
1812		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	21
1813		SPN349	Spondylometaphyseal Dysplasia, Type A4	21
1814		FCC003	Faciocardiomelic Dysplasia, Lethal	21
1815	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	21
1816	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	20
1817		SMM003	Summitt Syndrome	20
1818		KNS006	Kniest-Like Dysplasia, Lethal	20
1819		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	20
1820	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	20
1821	P	INC031	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3	20
1822	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1823		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	20
1824		MSM019	Mesomelic Dysplasia, Savarirayan Type	20
1825	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	20
1826		TBT001	Tabatznik Syndrome	20
1827	c	LTH039	Lethal Congenital Contracture Syndrome 11	20
1828	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	20
1829		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	20
1830	c	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	20
1831		SCH031	Scholte Syndrome	20
1832		PHC016	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia	20
1833	c	JVN046	Juvenile Polymyositis	20
1834		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	20
1835		IGG017	Igg4-Related Hepatopathy	20
1836		THR032	Thoracolaryngopelvic Dysplasia	20
1837		THR033	Thoracomelic Dysplasia	19
1838	c	LTH026	Lethal Congenital Contracture Syndrome 4	19
1839		OTN001	Otoonychoperoneal Syndrome	19
1840	c	BRC035	Brachydactyly Type A5	19
1841	c	SNG012	Singleton-Merten Syndrome 2	19
1842		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	19
1843		BRC100	Brachydactyly, Combined B and E Types	19
1844		MTC100	Metacarpal 4-5 Fusion	19
1845		SKL030	Skull Base Cancer	19
1846		ULN005	Ulna and Fibula, Hypoplasia of	19
1847		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	19
1848		SPN353	Spondylometaphyseal Dysplasia, X-Linked	19
1849	c	MLT060	Multiple Synostoses Syndrome 2	19
1850	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	19
1851	c	CRN216	Craniosynostosis 5	19
1852		RDL030	Radial-Renal Syndrome	19
1853		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	18
1854		SCL051	Scalp Defects and Postaxial Polydactyly	18
1855		HMR016	Humeroradioulnar Synostosis	18
1856		ALR004	Alar Cleft, Isolated	18
1857		DYS180	Dyschondrosteosis and Nephritis	18
1858	c	ART054	Arthrogryposis, Distal, Type 2e	18
1859	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	18
1860		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
1861	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	18
1862		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
1863		APH015	Aphalangy with Hemivertebrae	18
1864	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	18
1865		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	18
1866		MMB012	Membranous Cranial Ossification, Delayed	18
1867		ORB002	Orbit Embryonal Rhabdomyosarcoma	18
1868		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	18
1869		DYS049	Dysplastic Cortical Hyperostosis	18
1870		CNG529	Congenital Femoral Deficiency	17
1871		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	17
1872	c	EXS021	Exostoses, Multiple, Type Iii	17
1873	c	INF067	Inflammatory Bowel Disease 10	17
1874		SPN155	Spondylospinal Thoracic Dysostosis	17
1875	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	17
1876		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	17
1877		SGR001	Sugarman Brachydactyly	17
1878	c	INF068	Inflammatory Bowel Disease 13	17
1879		TTR010	Tetramelic Monodactyly	17
1880	c	PLY137	Polydactyly, Preaxial Iii	17
1881		CMP016	Camptobrachydactyly	17
1882		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	17
1883		ADC008	Adactylia, Unilateral	16
1884		MGP001	Megaepiphyseal Dwarfism	16
1885	c	INF160	Inflammatory Bowel Disease 17	16
1886		LNG102	Long-Thumb Brachydactyly Syndrome	16
1887	c	INF093	Inflammatory Bowel Disease 14	16
1888		SPN120	Spondylocamptodactyly	16
1889		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
1890		GNC010	Genochondromatosis	16
1891		MTT004	Metatarsus Adductus	16
1892		CLD006	Cleidorhizomelic Syndrome	16
1893		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	16
1894	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	16
1895		PLY132	Polysyndactyly, Crossed	16
1896		HRR003	Herrmann Opitz Craniosynostosis	16
1897		SPN345	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	16
1898		ECT086	Ectrodactyly-Polydactyly	15
1899		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	15
1900		CHN027	Chondrodysplasia Lethal Recessive	15
1901		SVR099	Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency	15
1902		PST104	Postaxial Oligodactyly, Tetramelic	15
1903	c	CNG336	Congenital Analbuminemia	15
1904		CXR001	Coxoauricular Syndrome	15
1905		IGG012	Igg4-Related Submandibular Gland Disease	14
1906	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	14
1907		AST010	Astley-Kendall Syndrome	14
1908	c	ATM063	Autoimmune Pancreatitis Type 2	14
1909		GGN006	Gigantiform Cementoma, Familial	14
1910		PYD004	Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome	14
1911		ACR027	Acrodysplasia Scoliosis	14
1912		TRC112	Trochlea of the Humerus, Aplasia of	14
1913	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	14
1914		CND008	Condensing Osteitis of the Clavicle	14
1915		STR014	Sternum Lymphoma	13
1916		DRG017	Drug-Induced Vasculitis	13
1917	c	ACR046	Acropectorovertebral Dysplasia F Form	13
1918	c	SCL049	Scoliosis, Isolated 3	13
1919	c	INF052	Infantile Scoliosis	12
1920	c	SCL058	Scoliosis, Isolated 2	12
1921		NNT044	Neonatal Antiphospholipid Syndrome	12
1922	c	BDY013	Body Mass Index Quantitative Trait Locus 5	12
1923		CRN087	Craniomicromelic Syndrome	11
1924	c	BRC037	Brachydactyly Type A7	11
1925	c	BDY008	Body Mass Index Quantitative Trait Locus 2	11
1926	c	BDY009	Body Mass Index Quantitative Trait Locus 3	11
1927	c	BDY014	Body Mass Index Quantitative Trait Locus 6	11
1928		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	11
1929		NNT046	Neonatal Dermatomyositis	10
1930	c	BDY018	Body Mass Index Quantitative Trait Locus 15	10
1931	c	SCL059	Scoliosis, Isolated 4	10
1932	c	SCL060	Scoliosis, Isolated 5	10
1933	c	BDY016	Body Mass Index Quantitative Trait Locus 13	10
1934		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
1935		VRL016	Verloove Vanhorick Brubakk Syndrome	10
1936		FMR002	Femoral Cancer	9
1937		UNC016	Unclassified Vasculitis	9
1938	c	EHL037	Ehlers-Danlos Syndrome, Vascular-Like Type	9
1939		PST031	Postcricoid Region Cancer	9
1940		BNL004	Benallegue Lacete Syndrome	8
1941		MLH001	Melhem Fahl Syndrome	8
1942		ARY001	Aryepiglottic Fold Cancer	8
1943		ORL028	Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy	8
1944		NRD020	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion	8
1945		DBR003	Dobrow Syndrome	8
1946		OLG019	Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	8
1947		OLG018	Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	8
1948		SFT001	Soft Tissue Peripheral Neuroepithelioma	8
1949	c	CRB078	Cerebrocostomandibular-Like Syndrome	8
1950		NNT043	Neonatal Scleroderma	7
1951		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	7
1952	c	OCL037	Oculodentodigital Dysplasia Dominant	7
1953	c	CRN093	Craniosynostosis Autosomal Dominant	6
1954	P	SYC001	Say Carpenter Syndrome	6
1955		PST098	Postinfectious Vasculitis	5
1956		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
1957	c	HYD017	Hydrocephalus Autosomal Recessive	5
1958		GNG007	Ganglion or Cyst of Synovium/tendon/bursa	5
1959	P	LGB001	Leg Absence Deformity Cataract	5
1960	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	4
1961		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	59
1962		FBR011	Fibrodysplasia Ossificans Progressiva	65
1963	P	DNT011	Dentinogenesis Imperfecta	47
1964		THR009	Thrombocytopenia-Absent Radius Syndrome	59
1965	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	52
1966		RCK004	Rickets	65
1967	c	HYP373	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	36
1968		KSK002	Kosaki Overgrowth Syndrome	23
1969		PRM288	Permanent Molars, Secondary Retention of	22
1970		BSL036	Basal Cell Nevus Syndrome	69
1971		RTH001	Rothmund-Thomson Syndrome	60
1972		FCL009	Focal Dermal Hypoplasia	56
1973	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	45
1974		ACH018	Achondroplasia and Severe Combined Immunodeficiency	11
1975		PMS001	Poems Syndrome	64
1976		CHR072	Chordoma	64
1977		CHR635	Chromosome 5q Deletion Syndrome	51
1978		CMP075	Campomelia, Cumming Type	27
1979		2Q3001	2q37 Deletion Syndrome	25
1980		MNS016	Monosomy 7 of Bone Marrow	25
1981		CRN070	Corneodermatoosseous Syndrome	22
1982	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
1983		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	13
1984	P	LKM002	Leukemia	72
1985	P	CRN037	Craniosynostosis	64
1986		MYL031	Myeloproliferative Neoplasm	62
1987		CRC021	Carcinosarcoma	62
1988		CNT105	Central Core Disease of Muscle	62
1989	c	ACT073	Acute Leukemia	61
1990	P	EHL001	Ehlers-Danlos Syndrome	61
1991	P	HYP756	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	57
1992		DYS164	Dyskeratosis Congenita, X-Linked	56
1993		WHM001	Whim Syndrome	54
1994	c	EMR018	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	52
1995		3MC003	3mc Syndrome	49
1996		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	49
1997		ISL015	Isolated Growth Hormone Deficiency, Type Ib	45
1998	c	LTH008	Lethal Congenital Contracture Syndrome 2	43
1999		MNT310	Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	36
2000		MXL017	Maxillary Cancer	36
2001		SPN402	Spinal Muscular Atrophy, X-Linked 2	34
2002	c	CHN022	Chondrocalcinosis 2	33
2003		MND001	Mandibular Cancer	33
2004		SPN348	Spondylometaphyseal Dysplasia, Axial	31
2005		GHS005	Ghosal Hematodiaphyseal Dysplasia	29
2006		STB002	Satb2-Associated Syndrome	27
2007		THY064	Thyroid Hormone Metabolism, Abnormal	23
2008	c	CRN221	Craniosynostosis 4	23
2009		MCR305	Microcephaly with Cervical Spine Fusion Anomalies	21
2010	c	EMR019	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	20
2011		ARC009	Auriculoosteodysplasia	17
2012	c	DNT047	Dentinogenesis Imperfecta Type 2	15
2013	c	CHR089	Chronic Kidney Failure	73
2014		SCK003	Sickle Cell Anemia	72
2015	P	FML018	Familial Mediterranean Fever	72
2016	P	CHR012	Chronic Granulomatous Disease	69
2017	P	KDN018	Kidney Disease	68
2018	c	JVN004	Juvenile Myelomonocytic Leukemia	68
2019	c	NRF024	Neurofibromatosis, Type I	68
2020	c	SCL052	Scleroderma, Familial Progressive	68
2021	P	CNG411	Congenital Disorder of Glycosylation, Type in	66
2022		HTC003	Hutchinson-Gilford Progeria Syndrome	65
2023	P	CHR285	Chronic Myelomonocytic Leukemia	65
2024		RCT015	Reactive Arthritis	64
2025	c	LCL006	Localized Scleroderma	63
2026	c	MCP001	Mucopolysaccharidosis Iii	63
2027		INT146	Intervertebral Disc Disease	62
2028	c	MCP052	Mucopolysaccharidosis, Type Vi	62
2029	P	OST001	Osteopetrosis	62
2030	c	GNG001	Gangliosidosis Gm1	61
2031		PRC002	Paracoccidioidomycosis	61
2032	P	LYS001	Loeys-Dietz Syndrome	61
2033		SPT004	Septic Arthritis	61
2034	P	FBR017	Fibrosarcoma	60
2035		NRM019	Neuraminidase Deficiency	60
2036	c	ORF040	Orofaciodigital Syndrome Viii	60
2037	P	DNT020	Dent Disease 1	59
2038		CHL028	Childhood Type Dermatomyositis	59
2039	P	DST002	Distal Arthrogryposis	59
2040	P	FCS002	Fucosidosis	58
2041		HMF006	Hemifacial Microsomia	58
2042	c	OST122	Osteogenesis Imperfecta, Type Iii	58
2043		PYD001	Pyoderma Gangrenosum	57
2044	c	MCP004	Mucopolysaccharidosis Iv	57
2045	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
2046	c	OST135	Osteogenesis Imperfecta, Type I	56
2047	P	OST080	Osteogenesis Imperfecta, Type Ii	56
2048	P	CRN038	Carney Complex Variant	55
2049	P	FNC043	Fanconi Anemia, Complementation Group E	54
2050	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	54
2051	c	MLG054	Malignant Histiocytosis	54
2052	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
2053	P	MRG008	Meier-Gorlin Syndrome 1	54
2054	c	ART119	Arthrogryposis, Distal, Type 5	54
2055	P	ADM011	Adams-Oliver Syndrome	54
2056		CLC001	Calciphylaxis	53
2057	P	FML052	Familial Cold Autoinflammatory Syndrome