Bone Diseases Category (2239 diseases)

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

#	Family	MCID	Name	MIFTS
1		PGT001	Paget's Disease of Bone	59
2		PLY082	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy	42
3	c	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	46
4		OST012	Osteoarthritis	82
5	c	HRD104	Hereditary Multiple Osteochondromas	33
6	P	OST002	Osteoporosis	76
7	P	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	44
8		BRT054	Brittle Bone Disorder	69
9	P	OST001	Osteopetrosis	61
10	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	43
11		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	48
12	P	OST080	Osteogenesis Imperfecta, Type Ii	58
13		FML345	Familial Expansile Osteolysis	45
14		CHR288	Chronic Recurrent Multifocal Osteomyelitis	54
15		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	28
16		GRC002	Gracile Bone Dysplasia	25
17		BNC003	Bone Cancer	59
18	c	OST131	Osteopetrosis, Autosomal Dominant 2	43
19	P	RHM011	Rheumatoid Arthritis	80
20		OST159	Osteogenic Sarcoma	59
21	c	OST126	Osteopetrosis, Autosomal Recessive 1	36
22	c	OST135	Osteogenesis Imperfecta, Type I	56
23		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	52
24		CRT002	Cartilage-Hair Hypoplasia	58
25		OST024	Osteoporosis-Pseudoglioma Syndrome	55
26	c	OST129	Osteopetrosis, Autosomal Recessive 2	32
27	c	OST134	Osteopetrosis, Autosomal Recessive 6	30
28	c	OST136	Osteopetrosis, Autosomal Recessive 7	25
29	c	OST122	Osteogenesis Imperfecta, Type Iii	58
30		VNB005	Van Buchem Disease	50
31	c	OST164	Osteoporosis, Juvenile	53
32		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	41
33		GRH001	Gorham's Disease	37
34	c	FML169	Familial Osteochondritis Dissecans	27
35	c	JVN010	Juvenile Rheumatoid Arthritis	69
36		ALB001	Albright's Hereditary Osteodystrophy	52
37	c	OST119	Osteogenesis Imperfecta, Type Vii	44
38		OST044	Osteoglophonic Dysplasia	51
39		BSC001	Buschke-Ollendorff Syndrome	48
40		SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	42
41	c	OST163	Osteopetrosis, Autosomal Recessive 3	33
42	c	OST120	Osteopetrosis, Autosomal Recessive 5	23
43	c	OST137	Osteopetrosis, Autosomal Recessive 4	22
44		DPH007	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	29
45		BNG036	Bone Giant Cell Tumor	48
46		END081	Endosteal Hyperostosis, Autosomal Dominant	47
47		BNW001	Bone Ewing's Sarcoma	46
48	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	40
49		KHL001	Kohler's Disease	18
50		HJD001	Hajdu-Cheney Syndrome	62
51		LGG001	Legg-Calve-Perthes Disease	58
52		ONC003	Oncogenic Osteomalacia	45
53		BNT003	Bent Bone Dysplasia Syndrome	40
54		TRC039	Tracheobronchopathia Osteoplastica	15
55		GRD006	Geroderma Osteodysplastica	26
56	c	OST125	Osteopetrosis, Autosomal Dominant 1	23
57	c	OST121	Osteogenesis Imperfecta, Type Iv	49
58	c	OST132	Osteogenesis Imperfecta, Type Vi	46
59		RNS001	Raine Syndrome	45
60		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	25
61	c	JVN025	Juvenile Primary Osteoporosis	19
62		PRM243	Primary Bone Cancer	19
63		OST003	Osteonecrosis	63
64		ENC044	Enchondromatosis, Multiple, Ollier Type	53
65		CRT017	Cartilage Disease	48
66		CRP009	Carpotarsal Osteochondromatosis	9
67		BND020	Bone Disease	62
68		OST016	Osteochondrosis	54
69		KBG001	Kbg Syndrome	52
70		OSG001	Osgood-Schlatter's Disease	37
71		AXL003	Axial Osteomalacia	33
72		OST022	Osteopathia Striata with Cranial Sclerosis	47
73		SCH072	Scheuermann Disease	39
74		MJD001	Majeed Syndrome	34
75		MLT033	Multicentric Osteolysis Nephropathy	9
76	P	NGT001	Negative Rheumatoid Factor Polyarthritis	7
77		BNM001	Bone Marrow Cancer	54
78	P	CNT056	Cantu Syndrome	50
79	c	EXS019	Exostoses, Multiple, Type I	47
80		ANR009	Aneurysmal Bone Cysts	46
81		OST014	Osteopoikilosis	38
82	c	OST130	Osteogenesis Imperfecta, Type Ix	30
83	c	EXS020	Exostoses, Multiple, Type Ii	29
84	c	OST128	Osteogenesis Imperfecta, Type Xii	28
85		MLR010	Melorheostosis with Osteopoikilosis	24
86	c	EXS021	Exostoses, Multiple, Type Iii	18
87		BZZ001	Bizzare Parosteal Osteochondromatous Proliferation	12
88	c	CNT094	Cantú Syndrome and Related Disorders	5
89	P	OST009	Osteochondritis Dissecans	57
90		OST015	Osteochondrodysplasia	53
91		OST032	Osteofibrous Dysplasia	50
92	c	OST124	Osteogenesis Imperfecta, Type V	47
93		MNT252	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	29
94		SPN400	Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures	21
95	c	OST118	Osteogenesis Imperfecta, Type Viii	42
96		BNS001	Bone Osteosarcoma	38
97		CYS041	Cystic Angiomatosis of Bone, Diffuse	27
98		KNB002	Kienbock's Disease	26
99	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	26
100		BNM015	Bone Mineral Density Quantitative Trait Locus 18	23
101		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	22
102		NVC001	Navicular Bone, Accessory	18
103		BNM030	Bone Mineral Density Quantitative Trait Locus 16	14
104		DNT050	Dentin Dysplasia with Sclerotic Bones	14
105		CRB091	Cerebro-Oculo-Facio-Skeletal Syndrome	37
106	c	OST110	Osteogenesis Imperfecta, Type Xv	33
107	c	OST133	Osteogenesis Imperfecta, Type Xi	31
108	c	OST127	Osteogenesis Imperfecta, Type X	31
109	c	OST123	Osteogenesis Imperfecta, Type Xiii	25
110	c	OST109	Osteogenesis Imperfecta, Type Xiv	25
111		PCM001	Pacman Dysplasia	22
112		OSS012	Osseous Heteroplasia, Progressive	56
113	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
114	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
115	P	PSD015	Pseudohypoparathyroidism	50
116	c	PSD117	Pseudohypoparathyroidism, Type Ic	36
117		GNT026	Gnathodiaphyseal Dysplasia	35
118	c	PSD104	Pseudohypoparathyroidism, Type Ii	33
119		CDS002	Codas Syndrome	32
120		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	19
121		RNL011	Renal Osteodystrophy	49
122		MLN014	Melnick-Needles Syndrome	38
123		GRD005	Geroderma Osteodysplasticum	28
124	c	OST139	Osteogenesis Imperfecta, Type Xvi	24
125	c	OST138	Osteogenesis Imperfecta, Type Xvii	23
126	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
127		OSL001	Oslam Syndrome	20
128		OST149	Osteolysis Syndrome, Recessive	19
129		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	18
130		FRN047	Frontonasal Dysplasia with Alar Clefts	17
131		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	16
132		RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	15
133		ALT005	Aloi Tomasini Isaia Syndrome	8
134		OST013	Osteosarcoma Arising in Bone Paget's Disease	7
135		DST005	Diastrophic Dysplasia	52
136		OST062	Osteoarthritis with Mild Chondrodysplasia	33
137		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	30
138		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	19
139	P	CHN012	Chondrosarcoma	56
140	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	51
141		KTL001	Keutel Syndrome	39
142	c	KNN007	Kenny-Caffey Syndrome, Type 2	29
143	c	KNN009	Kenny-Caffey Syndrome, Type 1	29
144		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	26
145		BNM010	Bone Marrow Failure Syndrome 1	25
146	P	KNN002	Kenny-Caffey Syndrome	24
147		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	24
148		OST117	Osteomesopyknosis	22
149		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	15
150		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	13
151	c	LCL005	Localized Chondrosarcoma	9
152		KNS001	Kniest Dysplasia	53
153	c	SCN005	Secondary Hypertrophic Osteoarthropathy	44
154		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	37
155		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	36
156		JXT003	Juxtacortical Osteosarcoma	35
157		SKL003	Skeletal Muscle Cancer	35
158		PRP024	Peripheral Osteosarcoma	32
159		INH011	Inherited Bone Marrow Failure Syndromes	31
160		PGT007	Paget Disease of Bone 3	28
161		SLT009	Solitary Bone Cyst	28
162		PGT009	Paget Disease of Bone 2, Early-Onset	24
163	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
164		CNV007	Conventional Central Osteosarcoma	22
165		SML003	Small Cell Osteogenic Sarcoma	22
166		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	17
167		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	16
168		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	15
169		OST034	Osteogenesis Imperfecta Levin Type	12
170		RHM030	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	8
171		RHM031	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	8
172		LRY012	Laryngeal Cartilage Cancer	8
173		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	6
174		INF051	Infantile Recurrent Chronic Multifocal Osteomyolitis	3
175		ACH004	Achondroplasia	66
176		OST017	Osteomyelitis	63
177		OST011	Osteomalacia	52
178		EXS001	Exostosis	45
179		OST004	Osteitis Fibrosa	43
180		BMR001	Boomerang Dysplasia	38
181		CLC057	Cole-Carpenter Syndrome	36
182		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	21
183		EKN001	Eiken Syndrome	21
184		BNM011	Bone Marrow Failure Syndrome 2	20
185		PGT011	Paget Disease of Bone 6	19
186		SKL017	Skeletal Dysplasias	48
187		ADM013	Adamantinoma of Long Bones	45
188		GLC086	Glucocorticoid-Induced Osteoporosis	42
189		MRS004	Marshall-Smith Syndrome	41
190		SKL001	Skeletal Tuberculosis	37
191		BNN003	Bone Inflammation Disease	37
192		ACR043	Acromicric Dysplasia	35
193		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	33
194		BNL002	Bone Lymphoma	26
195		HMM004	Hamamy Syndrome	25
196		PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	24
197		BND017	Bone Dysplasia, Lethal, Holmgren Type	21
198		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	20
199		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	19
200		OST047	Osteopenia and Sparse Hair	17
201		PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	17
202		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	17
203		OST058	Osteopoikilosis and Dacryocystitis	16
204		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	15
205		KDN010	Kidney Osteogenic Sarcoma	13
206		SHR027	Short Stature Wormian Bones Dextrocardia	11
207		CHS003	Chest Wall Bone Cancer	9
208	P	OST028	Osteochondroma	51
209	P	BRC015	Bruck Syndrome	44
210	P	EXT032	Extraosseous Osteosarcoma	39
211		BNM029	Bone Mineral Density Quantitative Trait Locus 15	38
212		PRS029	Periosteal Osteogenic Sarcoma	37
213		DYS013	Dysbaric Osteonecrosis	34
214		BNR002	Bone Resorption Disease	32
215		CHP002	Chops Syndrome	31
216		HGH023	High Bone Mass Osteogenesis Imperfecta	26
217		FBR013	Fibrosarcomatous Osteosarcoma	25
218		BNG005	Bone Giant Cell Sarcoma	24
219		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	23
220		TRC115	Tracheopathia Osteoplastica	23
221		BNF003	Bone Fragility with Contractures, Arterial Rupture, and Deafness	22
222		BNM022	Bone Mineral Density Quantitative Trait Locus 8	21
223		BNP002	Bone Epithelioid Hemangioma	20
224		BRS030	Breast Osteosarcoma	18
225		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	16
226		PYK001	Pyknoachondrogenesis	16
227		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	15
228		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	15
229		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	15
230		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	15
231	c	ADL034	Adult Extraosseous Osteosarcoma	13
232		BNM018	Bone Mineral Density Quantitative Trait Locus 3	13
233		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	13
234		BWN005	Bowing of Long Bones Congenital	12
235		PLY028	Polycystic Bone Disease	12
236		HPT017	Hepatic Osteogenic Sarcoma	10
237		CL1004	Col1a1/2-Related Osteogenesis Imperfecta	9
238		BNM031	Bone Mineral Density Quantitative Trait Locus 17	9
239		MLG006	Malignant Neoplasm of Short Bones of Lower Limb	9
240		MDS009	Mediastinal Osteogenic Sarcoma	8
241		CHL007	Childhood Extraosseous Osteosarcoma	8
242		BNM026	Bone Mineral Density Quantitative Trait Locus 12	8
243		SKL029	Skeletal Dysplasia-T Cell Immunodeficiency-Developmental Delay Syndrome	6
244		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	3
245		BNF002	Bone Fracture	55
246		HYP068	Hyperostosis	53
247		CZC002	Czech Dysplasia	26
248		BNM016	Bone Mineral Density Quantitative Trait Locus 1	19
249		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	7
250		FBR009	Fibrous Dysplasia	48
251	c	LTH008	Lethal Congenital Contracture Syndrome 2	46
252	c	LTH007	Lethal Congenital Contracture Syndrome 1	38
253	c	DNT025	Dentinogenesis Imperfecta 1	34
254		CHR543	Chromosome 2q37 Deletion Syndrome	34
255		GRN034	Grange Syndrome	32
256		ERL004	Early Yaws	30
257	P	LTH003	Lethal Congenital Contracture Syndrome	27
258	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
259	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
260	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
261	c	LTH047	Lethal Congenital Contracture Syndrome 3	22
262	c	LTH039	Lethal Congenital Contracture Syndrome 11	22
263		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	22
264	c	LTH029	Lethal Congenital Contracture Syndrome 9	21
265		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	21
266	c	LTH030	Lethal Congenital Contracture Syndrome 8	21
267	c	LTH032	Lethal Congenital Contracture Syndrome 7	20
268	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
269	c	DNT048	Dentinogenesis Imperfecta Type 3	12
270		PNN003	Panner Disease	10
271		LNG027	Long Bones of Lower Limb Cancer	8
272	P	OCL001	Ocular Albinism	46
273		MLG014	Malignant Fibrous Histiocytoma of Bone	43
274	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
275		OST097	Osteoporotic Fracture	41
276	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	40
277		PDT021	Pediatric Osteosarcoma	40
278	c	ALB024	Albinism, Ocular, Type I	38
279		PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	38
280		LYS017	Loeys-Dietz Syndrome 4	38
281		FBR002	Fibrosarcoma of Bone	36
282		CHN003	Chondroblastic Osteosarcoma	35
283		BNR001	Bone Remodeling Disease	30
284		LCL004	Localized Osteosarcoma	29
285		TLN002	Telangiectatic Osteogenic Sarcoma	21
286		STR088	Stratton-Parker Syndrome	20
287		CLC056	Cole-Carpenter Syndrome 1	20
288		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	19
289		PRM151	Primary Bone Lymphoma	19
290		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	18
291		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	18
292		BMR004	Beemer Lethal Malformation Syndrome	18
293		LSS034	Lissencephaly Type Iii and Bone Dysplasia	18
294		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	18
295	P	MLT017	Multifocal Osteogenic Sarcoma	16
296	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
297		PGT006	Paget Disease of Bone 4	14
298		LPS001	Liposarcoma of Bone	12
299		INT073	Intracortical Osteogenic Sarcoma	11
300		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	11
301		SHR094	Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	11
302		OST156	Osteosclerosis with Ichthyosis and Fractures	10
303		SYN002	Synchronous Multifocal Osteogenic Sarcoma	10
304		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	10
305		BNN002	Bone Angioendothelial Sarcoma	10
306		DST098	Distal Osteosclerosis	9
307		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	9
308		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	8
309	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	8
310		CHL041	Childhood Intracortical Osteosarcoma	7
311		CHL001	Childhood Parosteal Osteogenic Sarcoma	6
312	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	6
313		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	6
314		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	6
315		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	5
316		MTC001	Metachronous Osteosarcoma of the Bone	5
317		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	5
318		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	5
319		GGN003	Gigantism Advanced Bone Age Hoarse Cry	3
320		DWR006	Dwarfism Lethal Type Advanced Bone Age	3
321		DWR010	Dwarfism Thin Bones Multiple Fractures	3
322		BRT025	Brittle Bone Syndrome Lethal Type	3
323		CTR016	Cataract Skeletal Anomalies	3
324		HYD022	Hydrocephalus Skeletal Anomalies	3
325		OCL029	Oculo Skeletal Renal Syndrome	3
326		CRN080	Craniofacial and Skeletal Defects	2
327		PRR012	Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	2
328		HYD020	Hydrocephalus Growth Retardation Skeletal Anomalies	2
329	c	PST038	Positive Rheumatoid Factor Polyarthritis	2
330		CRP008	Carpo Tarsal Osteolysis Recessive	2
331		CTS007	Cutis Laxa Osteoporosis	2
332		TBB002	Tibiae Bowed Radial Anomalies Osteopenia Fracture	2
333	P	HRD001	Hereditary Multiple Exostoses	45
334		OST115	Osteonecrosis of the Jaw	42
335		CHN004	Chondroblastoma	42
336		END059	Endocrine-Cerebroosteodysplasia	32
337		OST006	Osteoblastoma	32
338		BND014	Bone Development Disease	30
339		CPL004	Caplan's Syndrome	30
340		OST160	Osteoid Osteoma	27
341		PTR001	Petrositis	25
342		BNS002	Bone Structure Disease	25
343		OST168	Osteosclerotic Metaphyseal Dysplasia	22
344	c	OST169	Osteogenesis Imperfecta, Type Xviii	20
345		BNM013	Bone Marrow Failure Syndrome 3	19
346		SKL011	Skeletal Defects, Genital Hypoplasia, and Mental Retardation	18
347		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	17
348		SHR114	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies	16
349		CHR633	Choroidal Osteoma, Bilateral	11
350	P	CTS001	Cutis Laxa	62
351	P	OSS001	Ossifying Fibroma	45
352	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	43
353	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	40
354	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	39
355		PTL009	Patella, Chondromalacia of	38
356	c	ATS393	Autosomal Recessive Cutis Laxa Type I	38
357	c	CTS045	Cutis Laxa, Autosomal Dominant 1	37
358	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	37
359	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	36
360		RHM013	Rheumatoid Nodulosis	34
361	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	33
362	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	33
363	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	32
364		BNS004	Bone Squamous Cell Carcinoma	31
365	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	30
366	c	ACQ027	Acquired Cutis Laxa	29
367		ISC005	Ischemic Bone Disease	29
368	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	29
369		BND004	Bone Deterioration Disease	28
370	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	27
371	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	26
372	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	26
373	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	26
374	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
375	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
376	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	25
377	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	25
378		CRN272	Craniometadiaphyseal Dysplasia	23
379	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	22
380		CLB033	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness	22
381	c	CTS031	Cutis Laxa, Autosomal Dominant 2	21
382		SPN380	Spinal Muscular Atrophy with Congenital Bone Fractures 2	17
383	c	JVN045	Juvenile Ossifying Fibroma	17
384		BNB001	Bone Benign Neoplasm	17
385	c	EFM001	Efemp2-Related Cutis Laxa	14
386	c	LTB003	Ltbp4-Related Cutis Laxa	14
387		BNC005	Bone Chondrosarcoma	10
388		SND010	Sinding-Larsen-Johansson Disease	9
389	c	FBL003	Fbln5-Related Cutis Laxa	8
390		BNM012	Bone Ameloblastoma	6
391		BND005	Bone Dysplasia Azouz Type	4
392	P	MSC003	Muscular Atrophy	54
393	P	SYP003	Syphilis	51
394		TRN004	Trench Fever	43
395		FCL041	Focal Myositis	41
396	c	PRG001	Progressive Muscular Atrophy	41
397	c	SCN006	Secondary Syphilis	40
398	c	CNG033	Congenital Syphilis	40
399		SLT001	Solitary Osseous Plasmacytoma	38
400		OST008	Osteosclerotic Myeloma	38
401	P	ACR062	Acroosteolysis	34
402		GNT001	Giant Cell Reparative Granuloma	33
403	c	PRM022	Primary Syphilis	31
404		RHM008	Rheumatic Myocarditis	31
405	c	LTC001	Late Congenital Syphilis	25
406	c	ERL002	Early Congenital Syphilis	24
407		ELS005	Elastoma	23
408		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	22
409		HYP754	Hypophosphatemic Bone Disease	20
410		MZB001	Mazabraud Syndrome	20
411		ACH002	Achilles Bursitis	19
412		KNN010	Kennerknecht Syndrome	19
413		PRT108	Puerto Rican Infant Hypotonia Syndrome	19
414		HDZ001	Hadziselimovic Syndrome	18
415	P	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	18
416	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	18
417		AXN011	Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities	18
418		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	18
419		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	18
420		IDP069	Idiopathic Avascular Necrosis	18
421	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	18
422		VLF001	Velofacioskeletal Syndrome	17
423		WDW001	Widow's Peak	17
424		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
425	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	15
426		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	15
427		PLM145	Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	15
428		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	14
429		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	14
430		CLB032	Coloboma of Macula and Skeletal Anomalies	14
431		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	14
432	c	BLN020	Blount Disease, Infantile	14
433		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
434		MCR197	Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	13
435		EPM003	Epimetaphyseal Skeletal Dysplasia	13
436		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	13
437		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	13
438		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
439		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	12
440		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	12
441		PHL009	Phalangeal Microgeodic Syndrome	12
442		BNM021	Bone Mineral Density Quantitative Trait Locus 7	12
443		ISL032	Isolated Bone Marrow Mastocytosis	12
444		THN012	Thanatophoric Dysplasia, Glasgow Variant	11
445		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	11
446		BLN021	Blount Disease, Adolescent	10
447		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	10
448		BNL001	Bone Leiomyosarcoma	10
449		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	10
450		NSL024	Nasal Bones, Absence of	10
451		OST162	Osteomalacia, Sclerosing, with Cerebral Calcification	9
452		OSS016	Ossified Ear Cartilages	9
453		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	9
454		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	9
455	c	CLC009	Clcn7-Related Osteopetrosis	9
456		OST161	Osteoma of Middle Ear	8
457		ANG057	Angioosteohypotrophic Syndrome	8
458		BNM014	Bone Mineral Density Quantitative Trait Locus 4	8
459		BNP003	Bone Pain, Periodic	7
460		PBC001	Pubic Bone Dysplasia	7
461		IDP078	Idiopathic Phalangeal Acro-Osteolysis	7
462		ORB004	Orbital Osteomyelitis	7
463		OST155	Osteomas of Mandible	7
464		EXP005	Expansile Bone Lesions	7
465		BNM017	Bone Mineral Density Quantitative Trait Locus 2	7
466		BNM019	Bone Mineral Density Quantitative Trait Locus 5	7
467		BNM020	Bone Mineral Density Quantitative Trait Locus 6	7
468		BNM023	Bone Mineral Density Quantitative Trait Locus 9	7
469		BNM024	Bone Mineral Density Quantitative Trait Locus 10	7
470		BNM025	Bone Mineral Density Quantitative Trait Locus 11	7
471		BNM027	Bone Mineral Density Quantitative Trait Locus 13	7
472		BNM028	Bone Mineral Density Quantitative Trait Locus 14	7
473		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	7
474		INV019	Inverse Klippel-Trénaunay Syndrome	6
475	c	LRP007	Lrp5-Related Primary Osteoporosis	6
476		BNS005	Bone Size Quantitative Trait Locus 1	6
477		BNS006	Bone Size Quantitative Trait Locus 2	6
478		CNT014	Central Nervous System Osteosarcoma	6
479		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
480		OST166	Osteoma of Cranial Vault, Familial	5
481		PRM165	Primary Plasmacytoma of the Bone	5
482		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
483		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	4
484		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	4
485		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	4
486		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
487		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	4
488		SST002	Sost-Related Sclerosing Bone Dysplasias	3
489		BND006	Bone Dysplasia Corpus Callosum Agenesis	3
490		BND008	Bone Dysplasia Moore Type	3
491		INT326	Intellectual Disability-Skeletal Abnormalities-Joint Laxity-Cardiac Anomalies Syndrome	3
492		SKL008	Skeletal Dysplasia Orofacial Anomalies	2
493	P	ART022	Arthritis	76
494	P	HYD006	Hydrocephalus	69
495	P	AMY004	Amyloidosis	68
496	P	ART023	Arthropathy	67
497	P	MCL013	Mucolipidosis Iv	67
498	P	CRN037	Craniosynostosis	67
499	P	CNG411	Congenital Disorder of Glycosylation, Type in	62
500	P	EHL001	Ehlers-Danlos Syndrome	60
501	P	SPN052	Spondyloarthropathy	60
502	P	HST010	Histiocytosis	59
503		SPN027	Spinal Stenosis	59
504		GT001	Gout	57
505	P	PLY006	Polydactyly	57
506	P	ANG015	Angioedema	57
507		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	56
508	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	56
509	P	SCL018	Scoliosis	55
510		ANK001	Ankylosis	55
511		SPN019	Spondylolisthesis	55
512		SPN051	Spondylitis	55
513	P	SJG008	Sjogren Syndrome	54
514	P	MLT007	Multiple Epiphyseal Dysplasia	53
515		DGN001	Degenerative Disc Disease	53
516	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	52
517	c	INV001	Invasive Aspergillosis	52
518		HMR002	Hemarthrosis	51
519		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	51
520	P	BRC006	Brachydactyly	50
521	c	MLG054	Malignant Histiocytosis	50
522	c	HYP292	Hypophosphatasia, Infantile	49
523		SYN005	Synostosis	49
524	c	CNG216	Congenital Hydrocephalus	49
525	c	ANG068	Angioedema, Hereditary, Type I	49
526	c	HYP293	Hypophosphatasia, Adult	49
527		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
528	c	HRD039	Hereditary Amyloidosis	48
529	c	JVN003	Juvenile Xanthogranuloma	48
530	c	TRC092	Trichorhinophalangeal Syndrome, Type I	47
531	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	47
532	P	CHN059	Chondrocalcinosis	46
533	c	EHL033	Ehlers-Danlos Syndrome, Classic Type	46
534	c	CNG412	Congenital Disorder of Glycosylation, Type Ii	46
535		DYS018	Dysostosis	46
536		CLB002	Clubfoot	46
537	P	RDL002	Radioulnar Synostosis	45
538	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	45
539	c	PSD106	Pseudo-Torch Syndrome 1	45
540	c	ACQ012	Acquired Angioedema	44
541	c	RBN009	Robinow Syndrome, Autosomal Recessive	44
542		SHL001	Shoulder Impingement Syndrome	44
543		VLL003	Villonodular Synovitis	44
544	c	MCP047	Mucopolysaccharidosis, Type Iva	44
545	P	MNN018	Mannosidosis	43
546	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	43
547		HRT030	Hartsfield Syndrome	43
548		HYD003	Hydrarthrosis	43
549		BRS064	Bursitis	43
550		SPN036	Spinal Chordoma	42
551		SPN029	Spondylolysis	42
552		EPC002	Epicondylitis	42
553	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	42
554	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	41
555	c	SCL042	Sclerosteosis 2	41
556		IDP070	Idiopathic Scoliosis	41
557		CHN053	Chondromyxoid Fibroma	41
558	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	41
559	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	41
560	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	40
561	c	SPL034	Split-Hand/foot Malformation 4	40
562		PDT035	Pediatric Systemic Lupus Erythematosus	40
563	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	39
564		RHM035	Rheumatic Fever-Related Antigen	39
565	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
566		LTT002	Letterer-Siwe Disease	39
567		HYP007	Hypermobility Syndrome	39
568	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	39
569	P	HRD086	Hereditary Hypophosphatemic Rickets	39
570	c	DSB006	Desbuquois Dysplasia 1	39
571	c	CRN278	Craniosynostosis 1	39
572		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
573	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	38
574		ESN017	Eosinophilic Granuloma	38
575		HYP041	Hypochondrogenesis	38
576	P	ATL001	Atelosteogenesis	38
577	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	38
578	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	37
579	c	PRM294	Primary Sjögren Syndrome	37
580	P	NNT042	Neonatal Lupus Erythematosus	37
581	P	PRT042	Parietal Foramina	37
582	c	ATL011	Atelosteogenesis, Type I	36
583	c	SPL070	Split-Hand/foot Malformation 2	36
584	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
585	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	36
586		MND025	Mandibulofacial Dysostosis with Alopecia	36
587		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	36
588	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	36
589	c	MCP051	Mucopolysaccharidosis, Type Ix	36
590		OLC001	Olecranon Bursitis	35
591	c	TYP024	Type Ii Mixed Cryoglobulinemia	35
592	c	ATS076	Autosomal Recessive Stickler Syndrome	35
593		CHN011	Chondromalacia	35
594		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
595	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	35
596	c	SPL033	Split-Hand/foot Malformation 6	35
597		ASK001	Askin's Tumor	35
598	P	GLP001	Geleophysic Dysplasia	34
599	c	MCL016	Mucolipidosis Iii Gamma	34
600		TRM011	Terminal Osseous Dysplasia	34
601		INF159	Infantile Sialic Acid Storage Disease	34
602	c	CNG379	Congenital Disorder of Glycosylation, Type It	34
603		NNT039	Neonatal Marfan Syndrome	34
604		SPN331	Spondyloocular Syndrome	33
605	c	ATL015	Atelosteogenesis, Type Ii	33
606	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	33
607	c	HYD060	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	33
608		CLV002	Clivus Chordoma	33
609	c	GLP003	Geleophysic Dysplasia 1	33
610		MST019	Mastoiditis	33
611		BRC004	Brachydactyly-Syndactyly Syndrome	33
612	c	CNG195	Congenital Disorder of Glycosylation, Type Id	33
613		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	33
614		CHN009	Chondroid Chordoma	32
615	c	SPL025	Split-Hand/foot Malformation 5	32
616	P	OMD003	Omodysplasia	32
617		ISL062	Isolated Plagiocephaly	32
618		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	31
619	c	GLP004	Geleophysic Dysplasia 2	31
620		IDP041	Idiopathic Recurrent Pericarditis	31
621		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
622	P	ACR093	Acrofrontofacionasal Dysostosis	31
623		PLM007	Pulmonary Aspergilloma	31
624		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	30
625	c	OMD001	Omodysplasia 1	30
626		ALG027	Al-Gazali-Bakalinova Syndrome	30
627	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	30
628	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	30
629	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
630	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	30
631		TBR007	Tuberculum Sellae Meningioma	30
632		CRN264	Craniosynostosis with Fibular Aplasia	30
633	c	CHN022	Chondrocalcinosis 2	30
634		WLD005	Wild Type Attr Amyloidosis	30
635	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
636	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
637	P	BRC003	Brachyolmia	29
638		PTL002	Patellofemoral Pain Syndrome	29
639		ISL121	Isolated Split Hand-Split Foot Malformation	29
640	c	ATL012	Atelosteogenesis, Type Iii	29
641	c	SCL045	Sclerosteosis 1	29
642	c	HYD043	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	29
643	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
644		BNG069	Benign Cephalic Histiocytosis	29
645		ACR095	Acrofacial Dysostosis, Cincinnati Type	29
646	c	RBN008	Rubinstein-Taybi Syndrome 2	29
647	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	29
648		DRG013	Drug-Induced Lupus Erythematosus	28
649		HLS001	Heel Spur	28
650	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	28
651		DSC004	Discitis	28
652		KMM001	Kummell's Disease	28
653	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	28
654	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	28
655		HYP674	Hyperostosis Cranialis Interna	28
656	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	28
657	P	DSB002	Desbuquois Dysplasia	28
658	c	CNG198	Congenital Disorder of Glycosylation, Type Il	28
659	c	CRN277	Craniosynostosis 2	28
660		IGG014	Igg4-Related Sclerosing Cholangitis	28
661	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	28
662	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	28
663		HYP679	Hypoglossia-Hypodactylia	28
664	c	SYN084	Synpolydactyly 1	28
665		ISL096	Isolated Klippel-Feil Syndrome	28
666		SKL005	Skull Base Meningioma	27
667		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
668	c	PSD107	Pseudo-Torch Syndrome 2	27
669	c	ACR106	Acrocephalopolysyndactyly Type Iii	27
670		CNS013	Constricting Bands, Congenital	27
671	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	27
672	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	27
673	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	27
674	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	27
675		STL007	Steel Syndrome	26
676	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	26
677	c	JVN047	Juvenile Spondyloarthropathy	26
678	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	26
679	c	TRN014	Transient Arthritis	26
680		PRR001	Periarthritis	26
681	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	26
682	c	CNG207	Congenital Disorder of Glycosylation, Type Io	26
683	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	26
684	c	BRC062	Brachydactyly, Type D	26
685		ISL061	Isolated Brachycephaly	26
686		SPH007	Sphenoid Sinusitis	26
687	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
688		ISL089	Isolated Scaphocephaly	26
689		WLD006	Wild Type Abeta2m Amyloidosis	25
690	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	25
691	P	PRD037	Periodontal Ehlers-Danlos Syndrome	25
692	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	25
693	c	ANG045	Angioedema, Hereditary, Type Iii	25
694	c	CRN217	Craniosynostosis 3	25
695		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	25
696		ORB011	Orbit Rhabdomyosarcoma	25
697		DGT002	Digital Clubbing, Isolated Congenital	25
698		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
699	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	25
700	P	ADL037	Adult Xanthogranuloma	25
701	P	NNT006	Neonatal Myasthenia Gravis	25
702		ANG049	Angioedema Induced by Ace Inhibitors	25
703	c	PRT059	Parietal Foramina 1	25
704		LBN004	Liebenberg Syndrome	25
705	P	FRN033	Frontonasal Dysplasia 2	25
706	c	DSB005	Desbuquois Dysplasia 2	25
707		ANG062	Angioosteohypertrophic Syndrome	25
708	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
709	c	CRN281	Craniosynostosis 7	25
710		SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	25
711	c	PRT060	Parietal Foramina 2	25
712	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	25
713		ACR017	Acrofacial Dysostosis	24
714		CVR001	Cavernous Sinus Meningioma	24
715	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	24
716	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	24
717	c	OMD002	Omodysplasia 2	24
718	c	ACR103	Acrofrontofacionasal Dysostosis 1	24
719		PTR002	Petroclival Meningioma	24
720		CRN266	Craniofacial Dyssynostosis with Short Stature	24
721	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	24
722	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
723		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
724	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
725		MRF019	Marfan Lipodystrophy Syndrome	23
726		LMB003	Lumbosacral Lipoma	23
727	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	23
728		PTL010	Patella Aplasia-Hypoplasia	23
729		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	23
730		HGH021	Hughes-Stovin Syndrome	23
731	P	FRM004	Foramen Magnum Meningioma	23
732	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	23
733		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	23
734		GNR023	Generalized Eruptive Histiocytosis	23
735	P	TRC031	Trichorhinophalangeal Syndrome	23
736		TRG019	Trigonocephaly with Short Stature and Developmental Delay	23
737	c	BRC060	Brachydactyly, Type E2	23
738	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	22
739		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	22
740		PRG077	Progressive Nodular Histiocytosis	22
741		ACR101	Acrocraniofacial Dysostosis	22
742		ULN023	Ulnar Hypoplasia	22
743	c	CRN216	Craniosynostosis 5	22
744	c	BRC108	Brachydactyly, Type A3	22
745	c	BRC052	Brachydactyly, Type B2	22
746		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
747		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
748		FBR091	Fibroblastic Rheumatism	22
749		MLR023	Melorheostosis, Isolated	22
750	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	22
751	c	FNG009	Feingold Syndrome 2	22
752	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
753	c	BRC080	Brachydactyly, Type A1, B	22
754	P	ACR108	Acrocephalopolysyndactyly Type Iv	22
755	P	ACR020	Acropectorovertebral Dysplasia	22
756	c	CNG514	Congenital Radioulnar Synostosis	22
757	c	FRN032	Frontonasal Dysplasia 3	22
758		INF009	Inflammatory Spondylopathy	22
759	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	21
760	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	21
761	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	21
762		PLC002	Plica Syndrome	21
763		MSL005	Mseleni Joint Disease	21
764		TBL006	Tibial Adamantinoma	21
765		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
766		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21
767		ISL087	Isolated Oxycephaly	21
768		MNS012	Monostotic Fibrous Dysplasia	21
769	c	BRC075	Brachydactyly, Type A1, C	21
770	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	21
771	c	BRC105	Brachydactyly, Type A1, D	21
772		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	21
773	c	CRN256	Craniosynostosis 6	21
774		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	21
775		CRN200	Craniosynostosis and Dental Anomalies	21
776	c	EHL065	Ehlers-Danlos Syndrome, Type V	21
777		DYS134	Dysspondyloenchondromatosis	21
778	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	21
779	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
780		PLV015	Pelvis-Shoulder Dysplasia	21
781		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
782	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	21
783		SGL002	Sagliker Syndrome	20
784		ISL084	Isolated Trigonocephaly	20
785	P	TRC034	Torch Syndrome	20
786		EPP011	Epiphyseal Chondrodysplasia, Miura Type	20
787	c	BRC053	Brachyolmia Type 2	20
788	c	SYN088	Synpolydactyly 2	20
789	c	STC012	Stickler Syndrome, Type Iv	20
790	P	OVR096	Overlap Myositis	20
791	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
792		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	20
793		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	20
794	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	20
795		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
796		EPP010	Epiphysiolysis of the Hip	20
797		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
798		INT182	Intermittent Hydrarthrosis	20
799		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	20
800		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	19
801		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	19
802		RDL022	Radial Hemimelia	19
803	c	PRM150	Primary Localized Amyloidosis	19
804		EHL064	Ehlers-Danlos Syndrome, Arthrochalasis Type	19
805		IND009	Indeterminate Cell Histiocytosis	19
806		MSM018	Mesomelic Limb Shortening and Bowing	19
807	c	STC011	Stickler Syndrome, Type V	19
808	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
809	c	BRC035	Brachydactyly Type A5	19
810		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	19
811		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
812		CRN224	Craniofaciofrontodigital Syndrome	19
813		INF118	Inflammatory Myopathy with Abundant Macrophages	18
814		HST018	Histiocytosis, Progressive Mucinous	18
815		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
816		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
817	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	18
818		PPL038	Papular Xanthoma	18
819	c	SYS066	Systemic Polyarteritis Nodosa	18
820	c	HYD042	Hydrocephalus, Autosomal Dominant	18
821		SPC002	Specific Bursitis Often of Occupational Origin	18
822	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	18
823		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	17
824		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	17
825	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
826	c	TRN062	Transient Neonatal Myasthenia Gravis	17
827		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	17
828		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
829		IGG013	Igg4-Related Pachymeningitis	17
830	c	EHL090	Ehlers-Danlos Syndrome Type 7b	17
831	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	17
832		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
833		MMM002	Mammary-Digital-Nail Syndrome	17
834		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	17
835		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	17
836	P	ACT061	Acute Sphenoidal Sinusitis	16
837	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	16
838		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
839	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	16
840		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
841		IGG008	Igg4-Related Mesenteritis	16
842	c	STC007	Stickler Syndrome, Type 3	16
843		CTN031	Cutaneous Pseudolymphoma	16
844		RDL031	Radial Aplasia, X-Linked	16
845	c	NNT025	Neonatal Systemic Lupus Erythematosus	16
846	c	GLP007	Geleophysic Dysplasia 3	16
847	P	ZYG003	Zygodactyly 1	16
848		CHN047	Chondroectodermal Dysplasia with Night Blindness	16
849		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
850		AML053	Amelia, Autosomal Recessive	16
851		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
852		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	15
853	c	PRT113	Parietal Foramina 3	15
854		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	15
855	c	CHN021	Chondrocalcinosis 1	15
856	c	AHM002	Ah Amyloidosis	15
857		CNS012	Cono-Spondylar Dysplasia	15
858	c	RBN010	Robinow-Like Syndrome	15
859		WHB001	Wahab Syndrome	15
860		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	15
861		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	15
862	c	CNT108	Central Polydactyly	15
863		HLL014	Hallux Varus and Preaxial Polysyndactyly	15
864		FMR013	Femoral Agenesis/hypoplasia	15
865		IGG011	Igg4-Related Kidney Disease	15
866		HYP497	Hyperphalangy	15
867	c	CHR039	Chronic Sphenoidal Sinusitis	15
868		IGG009	Igg4-Related Ophthalmic Disease	15
869	c	TYP003	Type I Ehlers-Danlos Syndrome	15
870		LRS009	Larsen-Like Syndrome, Lethal Type	14
871		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
872		CNG284	Congenital Pseudoarthrosis of the Tibia	14
873	c	SPN226	Spondyloarthropathy 2	14
874	c	SPN121	Spondylocostal Dysostosis 1	14
875	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	14
876		LGB002	Leg, Absence Deformity of, with Congenital Cataract	14
877		TRP023	Triphalangeal Thumbs and Dislocation of Patella	14
878	c	SYN040	Synpolydactyly 3	14
879		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
880		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
881		VRN007	Variant Abeta2m Amyloidosis	14
882		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	14
883		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
884		DPH002	Diaphragma Sellae Meningioma	13
885		CLV003	Clivus Meningioma	13
886		BCP001	Bicipital Tenosynovitis	13
887	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	13
888		ACH028	Acheiria	13
889		CRN204	Craniofacial Conodysplasia	13
890		TRM018	Traumatic Avascular Necrosis	13
891		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
892		HND012	Handigodu Joint Disease	13
893		SPH003	Sphenoorbital Meningioma	12
894	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
895		RNN006	Reunion Island Larsen Syndrome	12
896		APV001	Aapoaiv Amyloidosis	12
897		SYM014	Symbrachydactyly of Hands and Feet	12
898		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	12
899	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
900		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	12
901		IGG015	Igg4-Related Thyroid Disease	12
902		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
903	c	INF052	Infantile Scoliosis	12
904		IDP040	Idiopathic Eosinophilic Myositis	12
905		9Q3002	9q33.3q34.11 Microdeletion Syndrome	11
906	c	ACQ036	Acquired Angioedema Type 2	11
907	c	SYN050	Syndactyly Type 6	11
908		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	11
909		INT058	Intraorbital Meningioma	11
910		PRM233	Primary Cutaneous Plasmacytosis	11
911		ORB001	Orbit Alveolar Rhabdomyosarcoma	11
912		BST002	Baastrup's Syndrome	11
913	c	PRM222	Primary Polyarteritis Nodosa	11
914		CLV001	Clivus Chondroid Chordoma	11
915	c	ACR046	Acropectorovertebral Dysplasia F Form	11
916	c	BRC037	Brachydactyly Type A7	10
917		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
918		GLS016	Glossopalatine Ankylosis	10
919	c	SPN122	Spondylocostal Dysostosis 2	10
920		HMR042	Humero-Ulnar Synostosis	10
921		FBR007	Fibroosseous Pseudotumor of Digits	10
922		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
923		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
924	c	SPN123	Spondylocostal Dysostosis 3	10
925	c	SPN124	Spondylocostal Dysostosis 4	10
926	c	ZYG007	Zygodactyly Type 3	10
927		ULN014	Ulnar Hemimelia	9
928		CNG277	Congenital Pseudoarthrosis of the Fibula	9
929	c	ANT021	Anterior Foramen Magnum Meningioma	9
930		PTT005	Pituitary Stalk Meningioma	9
931	c	SPN256	Spondyloarthropathy 3	9
932		CRN261	Craniosynostosis-Cataract Syndrome	9
933		ISC011	Ischio-Vertebral Syndrome	9
934		CNG279	Congenital Pseudoarthrosis of the Ulna	9
935		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
936		BHC001	Behcet's Syndrome Arthropathy	9
937		ALC030	Alect2 Amyloidosis	9
938		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
939	c	ZYG006	Zygodactyly Type 2	9
940		SCR036	Sacrum Chordoma	8
941	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	8
942		IGG010	Igg4-Related Aortitis	8
943		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	8
944		PRN048	Prenatal Benign Hypophosphatasia	8
945		AML037	Amelia of Upper Limb	8
946		CNG283	Congenital Pseudoarthrosis of the Femur	8
947		CNG278	Congenital Pseudoarthrosis of the Radius	8
948		TBF001	Tibio-Fibular Synostosis	8
949	c	TRN008	Transient Arthropathy	8
950		APD003	Apodia	8
951	c	PST023	Posterior Foramen Magnum Meningioma	8
952		UPP001	Upper Clivus Meningioma	8
953		LWR003	Lower Clivus Meningioma	8
954	c	SCN055	Secondary Polyarteritis Nodosa	8
955		CLC050	Calciphylaxis Cutis	8
956		OKH001	Okihiro Syndrome Due to a Point Mutation	8
957		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
958	c	ZYG005	Zygodactyly Type 4	8
959		BPR001	Bipartite Talus	8
960	c	ACQ035	Acquired Angioedema Type 1	7
961	P	JVN036	Juvenile Sialidosis Type 2	7
962	c	CNG348	Congenital Sialidosis Type 2	7
963	c	JVN030	Juvenile Overlap Myositis	7
964		RDL019	Radio-Ulnar Synostosis, Unilateral	7
965	c	RR2001	Ror2-Related Robinow Syndrome	7
966		SNG013	Single-Organ Polyarteritis Nodosa	7
967	c	SX2003	Six2-Related Frontonasal Dysplasia	7
968		HMR031	Humeral Agenesis/hypoplasia	7
969		HYP500	Hyperphalangy, Unilateral	7
970	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	7
971		NNT045	Neonatal Autoimmune Hemolytic Anemia	7
972	c	ALP056	Alpha-Mannosidosis, Adult Form	7
973	c	ALP055	Alpha-Mannosidosis, Infantile Form	7
974		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
975		CNG289	Congenital Absence/hypoplasia of Thumb	6
976		CNG287	Congenital Absence of Both Forearm and Hand	6
977		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
978		HYP501	Hyperphalangy, Bilateral	6
979		RDL020	Radio-Ulnar Synostosis, Bilateral	6
980		HYP010	Hypermobility of Coccyx	6
981		MLT004	Multiple Skull Base Meningioma	6
982		SPH002	Sphenocavernous Meningioma	6
983	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	6
984		CNG290	Congenital Absence of Both Lower Leg and Foot	6
985		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
986		SMP006	Simple Cryoglobulinemia	6
987		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
988		DGT008	Digital Anomalies-Intellectual Disability-Short Stature Syndrome	6
989		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
990		UNS002	Unspecified Juvenile Idiopathic Arthritis	6
991		ISL026	Isolated Sternocostoclavicular Hyperostosis	6
992		RGR003	Regressive Spondylometaphyseal Dysplasia	6
993		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
994		HMR036	Humero-Ulnar Synostosis, Unilateral	6
995		HMR037	Humero-Ulnar Synostosis, Bilateral	6
996		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
997		ACR100	Acrofacial Dysostosis, Patagonia Type	6
998	P	RBN007	Rubinstein Taybi Like Syndrome	5
999		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	5
1000		PHL011	Phalanx Chondroma	5
1001		GNC002	Gonococcal Bursitis	5
1002	c	HYD017	Hydrocephalus Autosomal Recessive	5
1003		VSC036	Visceral Calciphylaxis	5
1004		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
1005		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1006		DYS128	Dysplasia of Head of Femur, Meyer Type	5
1007		MDL018	Madelung Deformity, Unilateral	5
1008		MDL017	Madelung Deformity, Bilateral	5
1009		CHR512	Cheirospondyloenchondromatosis	5
1010		AML036	Amelia of Lower Limb	5
1011		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1012		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
1013		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1014		TNS002	Tenosynovitis of Foot and Ankle	5
1015	c	CRN093	Craniosynostosis Autosomal Dominant	5
1016		GNC006	Gonococcal Spondylitis	5
1017		PRG089	Progeria-Associated Arthropathy	4
1018		SCN050	Secondary Non-Traumatic Avascular Necrosis	4
1019		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
1020		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
1021		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	3
1022	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	3
1023		MDF001	Midface Dysplasia	3
1024		SHW005	Shwachman-Diamond Type Metaphyseal Dysplasia	3
1025		PGT008	Paget Disease of Bone 5, Juvenile-Onset	45
1026		GRN013	Greenberg Dysplasia	34
1027		CRD221	Cardiospondylocarpofacial Syndrome	39
1028		BKS003	Beukes Hip Dysplasia	30
1029		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
1030		THM023	Thiemann Disease	20
1031		MCC012	Mccune-Albright Syndrome	64
1032		ANT003	Antley-Bixler Syndrome	50
1033		LYS021	Loeys-Dietz Syndrome 3	38
1034		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	33
1035	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	22
1036	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	19
1037		PFF001	Pfeiffer Syndrome	73
1038	P	MYL005	Myelofibrosis	70
1039	c	HRD010	Hereditary Spastic Paraplegia	67
1040	P	THN009	Thanatophoric Dysplasia, Type I	67
1041	P	CMR001	Camurati-Engelmann Disease	61
1042	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	51
1043		FLT011	Felty Syndrome	51
1044	P	THR117	Three M Syndrome 1	51
1045	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
1046	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	48
1047	P	PRM018	Primary Hypertrophic Osteoarthropathy	45
1048	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
1049		CHN054	Chondrodysplasia, Blomstrand Type	44
1050	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	42
1051	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
1052	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
1053	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	39
1054	P	BLN001	Blount's Disease	39
1055	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
1056	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
1057	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	37
1058	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
1059	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	37
1060	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	37
1061	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	37
1062	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	37
1063	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	37
1064	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	37
1065	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
1066	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	36
1067	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	36
1068	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
1069	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	35
1070	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
1071	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	34
1072	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	34
1073	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	34
1074	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
1075	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	33
1076	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	33
1077	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	33
1078	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
1079	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	33
1080	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	33
1081	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	33
1082	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
1083	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	32
1084	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
1085	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	32
1086	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
1087	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
1088	c	SPS031	Spastic Paraplegia 23	31
1089	P	SPS012	Spastic Paraplegia 3a	30
1090	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
1091	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	30
1092	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
1093	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
1094		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
1095	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
1096	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
1097	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
1098	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
1099	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	27
1100	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
1101	c	HRD186	Hereditary Spastic Paraplegia 51	27
1102	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	26
1103	c	SPS021	Spastic Paraplegia 10	26
1104	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
1105	c	SPS092	Spastic Paraplegia 11	26
1106	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	26
1107	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	26
1108	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
1109	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
1110	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	26
1111	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	25
1112	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	25
1113	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	25
1114	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
1115	c	SPS039	Spastic Paraplegia 5a	25
1116	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	25
1117	c	THR096	Three M Syndrome 3	24
1118	c	SPS036	Spastic Paraplegia 3	23
1119	c	SPS025	Spastic Paraplegia 15	23
1120	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	23
1121	c	THR069	Three M Syndrome 2	23
1122	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	22
1123	c	SPS091	Spastic Paraplegia 4	21
1124	c	SPS013	Spastic Paraplegia 8	20
1125	c	SPS020	Spastic Paraplegia 1	20
1126	c	HRD188	Hereditary Spastic Paraplegia 72	19
1127	c	SPS037	Spastic Paraplegia 31	19
1128	c	SPS034	Spastic Paraplegia 26	18
1129	c	SPS027	Spastic Paraplegia 17	18
1130	c	SPS028	Spastic Paraplegia 18	17
1131	c	SPS041	Spastic Paraplegia 6	17
1132	c	SPS023	Spastic Paraplegia 13	17
1133	c	SPS080	Spastic Paraplegia 51	16
1134	c	SPS032	Spastic Paraplegia 24	15
1135	c	SPS033	Spastic Paraplegia 25	15
1136	c	SPS035	Spastic Paraplegia 29	15
1137	c	SPS022	Spastic Paraplegia 12	15
1138	c	SPS026	Spastic Paraplegia 16	14
1139	c	SPS161	Spastic Paraplegia 32	14
1140	c	SPS038	Spastic Paraplegia 39	14
1141	c	SPS029	Spastic Paraplegia 19	14
1142		OST141	Osteoclastic Giant Cell Tumor of Pancreas	13
1143	c	SPS024	Spastic Paraplegia 14	12
1144	c	SPS040	Spastic Paraplegia 5b	11
1145	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	11
1146	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	11
1147	c	ATS186	Autosomal Recessive Spastic Paraplegia Type 68	11
1148	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	11
1149	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	11
1150	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	11
1151	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	11
1152	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	11
1153	c	FML078	Familial Myelofibrosis	7
1154		NLP001	Nail-Patella Syndrome	55
1155		PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	22
1156		QZM001	Qazi Markouizos Syndrome	13
1157		PSD014	Pseudopseudohypoparathyroidism	55
1158		SCH068	Schwartz-Jampel Syndrome, Type 1	52
1159		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	31
1160		NST002	Nestor-Guillermo Progeria Syndrome	25
1161		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	19
1162		WVR001	Weaver Syndrome	61
1163		FLT006	Floating-Harbor Syndrome	44
1164		FRN039	Frank-Ter Haar Syndrome	38
1165		PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	35
1166		STY001	Satoyoshi Syndrome	31
1167		OST150	Osteodysplasia, Familial, Anderson Type	17
1168		FRB005	Freiberg's Disease	14
1169	c	SPN225	Spondyloarthropathy 1	71
1170		KLP010	Klippel-Trenaunay-Weber Syndrome	60
1171		CFF002	Coffin-Lowry Syndrome	57
1172		SPH001	Sapho Syndrome	51
1173		KYP002	Kyphomelic Dysplasia	27
1174	c	MCP050	Mucopolysaccharidosis, Type Ii	63
1175	c	MCP049	Mucopolysaccharidosis, Type Vii	63
1176	c	MCP024	Mucopolysaccharidosis Type Vi	62
1177	c	MCP001	Mucopolysaccharidosis Iii	60
1178	c	MCP004	Mucopolysaccharidosis Iv	59
1179		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	52
1180	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
1181	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	50
1182	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1183		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	37
1184	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
1185		RHM009	Rheumatoid Lung Disease	34
1186		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	34
1187	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
1188	c	MCP048	Mucopolysaccharidosis, Type Ivb	30
1189	c	BRC047	Bruck Syndrome 1	28
1190		RHY001	Rhyns Syndrome	27
1191		GRR002	Gurrieri Syndrome	25
1192		BRC095	Brachydactyly, Mononen Type	18
1193		BMR003	Beemer Ertbruggen Syndrome	10
1194		RVS001	Revesz Syndrome	40
1195		ACR002	Acrocapitofemoral Dysplasia	26
1196		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	20
1197		BNP001	Bone Peripheral Neuroepithelioma	15
1198		PNT007	Penttinen-Aula Syndrome	9
1199		WDM002	Wiedemann Oldigs Oppermann Syndrome	6
1200		SRC014	Sarcoma	68
1201		RBR001	Roberts Syndrome	55
1202		SPN041	Spinal Cord Disease	51
1203	c	THN010	Thanatophoric Dysplasia, Type Ii	50
1204	P	PLG001	Pelger-Huet Anomaly	47
1205		SYN031	Synovial Chondromatosis	47
1206	P	SNG014	Singleton-Merten Syndrome	31
1207		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	30
1208	c	ACR044	Acroosteolysis Dominant Type	29
1209	c	SNG011	Singleton-Merten Syndrome 1	27
1210		SCR025	Scarf Syndrome	24
1211	c	BRC048	Bruck Syndrome 2	22
1212		GRN016	Grant Syndrome	20
1213	c	SNG012	Singleton-Merten Syndrome 2	18
1214		VNB004	Van Buchem Disease, Type 2	17
1215	c	PSD024	Pseudo Pelger-Huet Anomaly	10
1216		BTT012	Battaglia-Neri Syndrome	8
1217		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
1218		RHM014	Rheumatoid Vasculitis	41
1219		12Q002	12q14 Microdeletion Syndrome	30
1220		DNT045	Dental Anomalies and Short Stature	30
1221		BNM005	Bone Marrow Necrosis	26
1222		ELS006	Elsahy-Waters Syndrome	26
1223		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	21
1224	c	CMR006	Camurati-Engelmann Disease, Type 2	21
1225		SHR023	Short Stature Syndrome, Brussels Type	19
1226		2Q3001	2q37 Deletion Syndrome	15
1227		VND003	Van Den Bosch Syndrome	14
1228		MGC006	Magic Syndrome	13
1229		HNT009	Hunter-Mcalpine Syndrome	13
1230		PTT018	Petit-Fryns Syndrome	11
1231		VRL015	Verloes Van Maldergem Marneffe Syndrome	10
1232		MCH009	Michels Caskey Syndrome	8
1233		RZN001	Rozin Hertz Goodman Syndrome	7
1234		HKF001	Ho Kaufman Mcalister Syndrome	7
1235		CNT060	Central Serous Chorioretinopathy	44
1236		IMM073	Immunoglobulin a Vasculitis	32
1237		3MC001	3mc Syndrome 2	30
1238		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
1239	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1240	P	CLL020	Collagenopathy Type 2 Alpha 1	19
1241		FXL001	Foix-Alajouanine Syndrome	19
1242	c	SPS042	Spastic Paraplegia 9	19
1243		ULN007	Ulna Metaphyseal Dysplasia Syndrome	17
1244		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	16
1245		BNK001	Banki Syndrome	14
1246		PRM291	Premature Aging Syndrome, Okamoto Type	14
1247		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	13
1248		VNB002	Van Bogaert-Hozay Syndrome	13
1249		DGH001	Doughnut Lesions of Skull, Familial	13
1250		ANP010	Anaplastic Plasmacytoma	11
1251		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
1252		FYP001	Faye-Petersen-Ward-Carey Syndrome	10
1253		MGR005	Megarbane Syndrome	9
1254		PNS013	Panostotic Fibrous Dysplasia	8
1255	c	CLL016	Collagenopathy, Types Ii and Xi	8
1256		SKL009	Skeletal Dysplasia, San Diego Type	8
1257		SKL024	Skeletal-Extraskeletal Angiomatosis	7
1258		CTK001	Cote Katsantoni Syndrome	7
1259		TRC050	Tricho-Dento-Osseous Syndrome 1	6
1260		RCH003	Richieri Costa Da Silva Syndrome	6
1261		CRT006	Cartilage Cancer	6
1262		KZL005	Kozlowski Warren Fisher Syndrome	5
1263		PNT008	Pointer Syndrome	5
1264		THD001	Theodor Hertz Goodman Syndrome	5
1265		ALS004	Alsing Syndrome	5
1266		VGN025	Vagneur Triolle Ripert Syndrome	4
1267		SLV009	Slavotinek Pike Mills Hurst Syndrome	4
1268		SND004	Sandhaus Ben-Ami Syndrome	4
1269		CHT003	Chitty Hall Webb Syndrome	4
1270		RGN002	Reginato Shiapachasse Syndrome	3
1271		LCK002	Lockwood Feingold Syndrome	3
1272		SKL010	Skeleto Cardiac Syndrome with Thrombocytopenia	3
1273		CRT026	Cartilaginous Cancer	3
1274		OST060	Osteosclerosis Abnormalities of Nervous System and Meninges	3
1275	c	SYS001	Systemic Lupus Erythematosus	86
1276	P	FNC027	Fanconi Anemia, Complementation Group a	78
1277		MRF001	Marfan Syndrome	74
1278		CRZ001	Crouzon Syndrome	70
1279	P	CHR012	Chronic Granulomatous Disease	69
1280	P	LPS004	Lupus Erythematosus	68
1281		APR006	Apert Syndrome	68
1282		SCH036	Scheie Syndrome	68
1283	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
1284		BHC003	Behcet Syndrome	67
1285	P	PRT008	Proteus Syndrome	66
1286		TKY002	Takayasu Arteritis	66
1287	P	ASP006	Aspergillosis	65
1288	P	CRN015	Cornelia De Lange Syndrome	64
1289		ADL030	Adult-Onset Still's Disease	64
1290	P	PNC044	Pancreatitis	64
1291		INC002	Inclusion Body Myositis	63
1292	c	MCL062	Mucolipidosis Ii Alpha/beta	63
1293		FBR011	Fibrodysplasia Ossificans Progressiva	63
1294		HTC003	Hutchinson-Gilford Progeria Syndrome	62
1295	P	CLD001	Cleidocranial Dysplasia	62
1296	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
1297	P	TRC072	Treacher Collins Syndrome 1	61
1298	c	ACT027	Acute Pancreatitis	60
1299		ELL001	Ellis-Van Creveld Syndrome	60
1300		SPT004	Septic Arthritis	60
1301	P	FCS002	Fucosidosis	60
1302	c	PNC108	Pancreatitis, Hereditary	59
1303		MNK003	Muenke Syndrome	59
1304		ERD001	Erdheim-Chester Disease	58
1305		SPN008	Spondyloepiphyseal Dysplasia Congenita	58
1306		HMF006	Hemifacial Microsomia	58
1307	P	HYP035	Hypophosphatasia	58
1308	P	HLL001	Hallermann-Streiff Syndrome	58
1309		ANT009	Antithrombin Iii Deficiency	57
1310		MCR088	Microscopic Polyangiitis	57
1311	P	OCL013	Oculodentodigital Dysplasia	57
1312	c	GNG001	Gangliosidosis Gm1	57
1313	c	FML116	Familial Cold Autoinflammatory Syndrome 1	57
1314		HYP042	Hypochondroplasia	57
1315	P	PLY041	Polymyositis	56
1316	c	MNN047	Mannosidosis, Alpha B, Lysosomal	56
1317	P	STC001	Stickler Syndrome	56
1318	P	STS008	Sotos Syndrome 1	56
1319		HRL003	Hurler Syndrome	56
1320		ASP002	Aspartylglucosaminuria	56
1321		SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
1322		CHR619	Chromosome 2q35 Duplication Syndrome	55
1323		RLP001	Relapsing Polychondritis	54
1324		MVL001	Mevalonic Aciduria	54
1325	P	SCK004	Seckel Syndrome	54
1326	c	CRP023	Carpenter Syndrome 1	54
1327		SCH002	Schnitzler Syndrome	54
1328		ERY017	Erythema Elevatum Diutinum	54
1329	P	CRN108	Cranioectodermal Dysplasia 1	53
1330		MLT135	Multiple Sulfatase Deficiency	53
1331		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
1332	c	AMY009	Amyloidosis Aa	53
1333		SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	53
1334	c	ACH041	Achondrogenesis, Type Ii	53
1335		GLC012	Galactosialidosis	53
1336		CLC001	Calciphylaxis	52
1337		GRG001	Greig Cephalopolysyndactyly Syndrome	52
1338		ESN015	Eosinophilic Fasciitis	52
1339		CGN006	Cogan Syndrome	52
1340		VTM027	Vitamin D-Dependent Rickets, Type 2a	51
1341		SPN020	Spondylosis	51
1342	P	ADM011	Adams-Oliver Syndrome	51
1343	P	PLY017	Polyarteritis Nodosa	51
1344		PYC001	Pycnodysostosis	50
1345		PSD012	Pseudoachondroplasia	50
1346		BLL001	Baller-Gerold Syndrome	50
1347		CFF003	Caffey Disease	50
1348		MLT145	Multiple Enchondromatosis, Maffucci Type	50
1349	P	PRX021	Proximal Symphalangism	50
1350		ULN003	Ulnar-Mammary Syndrome	50
1351		PYL017	Pyle Disease	50
1352	c	MCL046	Mucolipidosis Iii Alpha/beta	49
1353		CTY001	Cat Eye Syndrome	49
1354	P	FBR025	Fibrochondrogenesis	49
1355		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	49
1356	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	49
1357		SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	49
1358	P	WLL002	Weill-Marchesani Syndrome	49
1359		HYP088	Hyper-Igd Syndrome	49
1360	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1361		YNS002	Yunis-Varon Syndrome	48
1362		JCK001	Jackson-Weiss Syndrome	48
1363		HYP085	Hypothalamic Disease	48
1364		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	48
1365	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
1366		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	48
1367		CNN011	Cenani-Lenz Syndactyly Syndrome	48
1368	c	ORF037	Orofaciodigital Syndrome I	48
1369	P	ORF001	Orofaciodigital Syndrome	48
1370		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	47
1371		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	47
1372	P	CRN013	Craniodiaphyseal Dysplasia	47
1373	P	MNN019	Mannosidosis, Beta a, Lysosomal	47
1374	c	CRN139	Cornelia De Lange Syndrome 1	47
1375	c	BRC078	Brachydactyly, Type A1	47
1376	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	47
1377		MLR003	Melorheostosis	46
1378		PST049	Postaxial Acrofacial Dysostosis	46
1379		ACR058	Acrofacial Dysostosis 1, Nager Type	46
1380		NRM019	Neuraminidase Deficiency	46
1381	P	LRS001	Larsen Syndrome	46
1382		CRN005	Craniofrontonasal Syndrome	46
1383	P	SCL048	Sclerosteosis	46
1384		ANT039	Antisynthetase Syndrome	46
1385	c	ATS082	Autosomal Dominant Robinow Syndrome	45
1386	P	MLT072	Multiple Synostoses Syndrome	45
1387	c	SPL024	Split-Hand/foot Malformation 3	45
1388	c	ACH042	Achondrogenesis, Type Ib	45
1389		SHR098	Short-Rib Thoracic Dysplasia 12	45
1390	P	CPL003	Capillary Leak Syndrome	45
1391		PYM001	Pyomyositis	45
1392		ACR013	Acrodysostosis	45
1393		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	45
1394	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1395	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	44
1396	c	BRC079	Brachydactyly, Type A2	44
1397	c	CHL140	Chilblain Lupus 1	44
1398	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
1399		MCR225	Macrophage Activation Syndrome	44
1400		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	44
1401	P	FRN012	Frontometaphyseal Dysplasia	44
1402	c	ACH033	Achondrogenesis, Type Ia	44
1403	P	ACH011	Achondrogenesis	44
1404	P	PRV002	Periventricular Nodular Heterotopia	43
1405		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	43
1406	c	RCR022	Recurrent Acute Pancreatitis	42
1407		HND004	Hand-Foot-Genital Syndrome	42
1408	c	ORF034	Orofaciodigital Syndrome Vi	42
1409	c	LRS002	Larsen-Like Syndrome	42
1410	c	GM1004	Gm1-Gangliosidosis, Type I	42
1411		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	41
1412	c	SYS007	Systemic Capillary Leak Syndrome	41
1413	P	SYN012	Synpolydactyly	41
1414		LRW001	Leri-Weill Dyschondrosteosis	41
1415	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	41
1416		CRR002	Currarino Syndrome	41
1417	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	41
1418		HYP776	Hyperparathyroidism, Neonatal Severe	40
1419	c	SPN330	Spondylocostal Dysostosis 5	40
1420		SPN060	Spondylocarpotarsal Synostosis Syndrome	40
1421		HRL004	Hurler-Scheie Syndrome	40
1422	P	PLY147	Polydactyly, Postaxial, Type A1	39
1423		ACH001	Acheiropody	39
1424	c	FRN036	Frontonasal Dysplasia 1	39
1425		FBL002	Fibular Hypoplasia and Complex Brachydactyly	39
1426		PRK003	Parkes Weber Syndrome	39
1427		STV003	Stuve-Wiedemann Syndrome	39
1428		OPS002	Opsismodysplasia	38
1429	c	BRC081	Brachydactyly, Type C	38
1430		DPH019	Diaphanospondylodysostosis	38
1431	c	GM2005	Gm2-Gangliosidosis, Ab Variant	38
1432		ACR041	Acromelic Frontonasal Dysostosis	38
1433	c	OTP007	Otopalatodigital Syndrome, Type Ii	38
1434	P	GNG010	Gangliosidosis Gm2	37
1435		PSR016	Psoriatic Juvenile Idiopathic Arthritis	37
1436	P	SPL061	Split Hand-Foot Malformation	37
1437	c	BRC051	Brachydactyly, Type B1	37
1438		MLG141	Malignant Atrophic Papulosis	37
1439		LRN006	Laurin-Sandrow Syndrome	36
1440	c	OTP006	Otopalatodigital Syndrome, Type I	36
1441	P	ANX007	Anauxetic Dysplasia 1	36
1442		TNS014	Tenosynovitis	36
1443		XNT009	Xanthoma Disseminatum	36
1444		TRS002	Tarsal-Carpal Coalition Syndrome	36
1445	c	STC015	Stickler Syndrome, Type I	36
1446		PLY112	Polyarteritis Nodosa, Childhood-Onset	36
1447	c	ADM005	Adams-Oliver Syndrome 1	36
1448		CHN057	Chondrodysplasia, Grebe Type	36
1449		DSM002	Desmosterolosis	36
1450		DYS048	Dysplasia Epiphysealis Hemimelica	36
1451	c	BRC109	Brachydactyly, Type E1	36
1452	c	SYS061	Systemic Lupus Erythematosus 16	35
1453	P	SYN059	Syndactyly, Type V	35
1454	P	SMT022	Smith-Mccort Dysplasia 1	35
1455	c	SYN061	Syndactyly, Type Iv	35
1456		WYR002	Weyers Acrofacial Dysostosis	35
1457		CTL005	Catel-Manzke Syndrome	35
1458		MTT002	Metatropic Dysplasia	35
1459	c	GM1005	Gm1-Gangliosidosis, Type Ii	35
1460		ORB012	Orbital Cancer	34
1461	P	CRB154	Cerebrocostomandibular Syndrome	34
1462		SPL068	Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive	34
1463		FBR089	Fibrosclerosis, Multifocal	34
1464	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
1465		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	34
1466		FMR018	Femoral-Facial Syndrome	34
1467	c	FML117	Familial Cold Autoinflammatory Syndrome 2	34
1468		FML307	Familial Calcium Pyrophosphate Deposition	33
1469		LNG040	Langer Mesomelic Dysplasia	33
1470		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
1471		PLS030	Plasminogen Deficiency, Type I	33
1472		ACR016	Acromesomelic Dysplasia	33
1473		CTN019	Cutaneous Polyarteritis Nodosa	32
1474		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	32
1475	P	MTP005	Metaphyseal Anadysplasia	32
1476		DYG001	Dyggve-Melchior-Clausen Disease	32
1477		TTH001	Tooth Ankylosis	32
1478		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	32
1479		HYP596	Hypophosphatasia, Childhood	32
1480		SCH030	Schneckenbecken Dysplasia	32
1481	c	WLL036	Weill-Marchesani Syndrome 1	31
1482	P	EHL081	Ehlers-Danlos Syndrome, Classic-Like	31
1483		TTR025	Tetraamelia Syndrome, Autosomal Recessive	31
1484		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	31
1485	P	PLY148	Polydactyly, Preaxial Ii	31
1486		HMF010	Hemifacial Microsomia with Radial Defects	31
1487		ATN011	Autoinflammation with Infantile Enterocolitis	31
1488		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	31
1489	c	PRV019	Periventricular Nodular Heterotopia 1	30
1490		SPN154	Spondyloperipheral Dysplasia	30
1491		HMR015	Humeroradial Synostosis	30
1492		EF001	Eaf	30
1493		MTC018	Metachondromatosis	30
1494		CLV004	Calvarial Hyperostosis	30
1495	c	SCK009	Seckel Syndrome 1	30
1496	c	WLL037	Weill-Marchesani Syndrome 2	29
1497	c	FRN048	Frontometaphyseal Dysplasia 2	29
1498		TRC118	Trichodentoosseous Syndrome	29
1499	c	FNC062	Fanconi Anemia, Complementation Group S	29
1500	c	GM1006	Gm1-Gangliosidosis, Type Iii	29
1501	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	29
1502		NRG003	Neurogenic Arthropathy	29
1503	c	STC013	Stickler Syndrome, Type Ii	29
1504		WLD004	Wildervanck Syndrome	29
1505	c	FNC023	Fanconi Anemia, Complementation Group N	29
1506		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	29
1507	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
1508	c	SCK011	Seckel Syndrome 5	29
1509	c	FNC028	Fanconi Anemia, Complementation Group L	29
1510	P	XLN161	X-Linked Chondrodysplasia Punctata	29
1511		MSM004	Mesomelia-Synostoses Syndrome	29
1512		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	28
1513		SPN348	Spondylometaphyseal Dysplasia, Axial	28
1514		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	28
1515		CLL036	Culler-Jones Syndrome	28
1516		FRN022	Frontofacionasal Dysplasia	28
1517	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28
1518	c	MLT059	Multiple Synostoses Syndrome 1	28
1519	c	CRN109	Cranioectodermal Dysplasia 2	28
1520		TBL008	Tibial Hemimelia	28
1521		MTP028	Metaphyseal Dysplasia, Spahr Type	28
1522		DYS045	Dysosteosclerosis	28
1523		FBR028	Fibrosing Mediastinitis	28
1524	c	SCK010	Seckel Syndrome 4	28
1525		LMB008	Limb-Mammary Syndrome	27
1526		KLB005	Kleeblattschaedel	27
1527		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	27
1528		MSM016	Mesomelic Dysplasia, Kantaputra Type	27
1529		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	27
1530		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
1531		WSM003	Weismann-Netter Syndrome	27
1532	c	ADM007	Adams-Oliver Syndrome 2	27
1533		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
1534		UND007	Undifferentiated Connective Tissue Disease	27
1535	c	CRP022	Carpenter Syndrome 2	27
1536		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
1537		ACR099	Acrofacial Dysostosis, Catania Type	26
1538	c	SYN060	Syndactyly, Type Iii	26
1539	c	PRT063	Proteus-Like Syndrome	26
1540	c	DNT021	Dent Disease 2	26
1541		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	26
1542		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	26
1543	c	BRC045	Brachyolmia Type 3	26
1544	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	26
1545		SYN086	Synostoses, Tarsal, Carpal, and Digital	26
1546		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	26
1547		HYP682	Hypertelorism, Teebi Type	26
1548	c	ADM010	Adams-Oliver Syndrome 5	26
1549	c	CRN134	Cornelia De Lange Syndrome 2	26
1550		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	26
1551		NCR009	Necrobiotic Xanthogranuloma	26
1552		PSD030	Pseudodiastrophic Dysplasia	26
1553		ORB009	Orbit Lymphoma	26
1554	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	26
1555		HYP648	Hypertension and Brachydactyly Syndrome	26
1556	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25
1557	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	25
1558	c	FRN049	Frontometaphyseal Dysplasia 1	25
1559	c	SYS043	Systemic Lupus Erythematosus 1	25
1560		STN012	Sting-Associated Vasculopathy, Infantile-Onset	25
1561		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	25
1562		SHR108	Short Stature, Idiopathic, X-Linked	25
1563		CHR588	Chromosome 8q22.1 Duplication Syndrome	25
1564		BJL001	Bejel	25
1565		INT189	Interstitial Granulomatous Dermatitis with Arthritis	25
1566		NVR001	Nievergelt Syndrome	25
1567		IGG016	Igg4-Related Dacryoadenitis and Sialadenitis	25
1568		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	25
1569		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	25
1570		PRS051	Parastremmatic Dwarfism	25
1571		VSC050	Vascular Malformation, Primary Intraosseous	25
1572		STR017	Sternum Cancer	25
1573	c	PLY149	Polydactyly, Preaxial Iv	25
1574	c	FNC048	Fanconi Anemia, Complementation Group O	25
1575		TMP008	Tempi Syndrome	25
1576		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	25
1577		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	25
1578	c	FNC029	Fanconi Anemia, Complementation Group I	24
1579		DGT005	Digital Arthropathy-Brachydactyly, Familial	24
1580		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	24
1581		RMR001	Ramer Ladda Syndrome	24
1582	c	ORF036	Orofaciodigital Syndrome Xiv	24
1583		SLL002	Sella Turcica Neoplasm	24
1584		PYR008	Pyriform Sinus Cancer	24
1585	c	SCK015	Seckel Syndrome 2	24
1586		HSH001	Hashimoto-Pritzker Syndrome	24
1587	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1588	c	WLL038	Weill-Marchesani Syndrome 3	24
1589	c	CRN111	Cranioectodermal Dysplasia 4	24
1590		ACR107	Acrofacial Dysostosis, Palagonia Type	24
1591		PRP090	Peripheral Dysostosis	24
1592		ACR079	Acrodysostosis with Multiple Hormone Resistance	24
1593	c	STS007	Sotos Syndrome 2	23
1594	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	23
1595		OCL040	Oculomaxillofacial Dysostosis	23
1596	c	CRN209	Cornelia De Lange Syndrome 5	23
1597		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	23
1598	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	23
1599		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	23
1600	c	FNC046	Fanconi Anemia, Complementation Group P	23
1601	c	SMT018	Smith-Mccort Dysplasia 2	23
1602	c	WLL040	Weill-Marchesani Syndrome 4	23
1603	c	INF144	Inflammatory Skin and Bowel Disease, Neonatal, 1	23
1604		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	23
1605		FMR016	Femur-Fibula-Ulna Syndrome	23
1606	c	ORF046	Orofaciodigital Syndrome Xvi	23
1607	c	CRN110	Cranioectodermal Dysplasia 3	23
1608		ATM086	Autoimmune Interstitial Lung, Joint, and Kidney Disease	23
1609		BRN123	Branchial Arch Syndrome, X-Linked	23
1610		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	23
1611		AMN014	Aminopterin Syndrome Sine Aminopterin	23
1612		TBS009	Teebi-Shaltout Syndrome	23
1613		ATN016	Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated	23
1614	c	SCK029	Seckel Syndrome 7	23
1615		SYM024	Symphalangism, Distal	22
1616		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
1617	c	MLT060	Multiple Synostoses Syndrome 2	22
1618		OSB001	Osebold-Remondini Syndrome	22
1619		HYP002	Hypothalamic Neoplasm	22
1620	c	CRN221	Craniosynostosis 4	22
1621	c	SYM022	Symphalangism, Proximal, 1a	22
1622	c	FBR029	Fibrochondrogenesis 1	22
1623		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	22
1624		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	22
1625	c	CRN215	Cornelia De Lange Syndrome 4	22
1626	c	ORF045	Orofaciodigital Syndrome Xv	22
1627		AKL001	Au-Kline Syndrome	22
1628	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	22
1629		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	22
1630		SHR102	Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures	22
1631	c	SCK038	Seckel Syndrome 10	22
1632	c	CRN135	Cornelia De Lange Syndrome 3	22
1633		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	22
1634	c	FNC047	Fanconi Anemia, Complementation Group Q	22
1635	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	22
1636	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	22
1637	c	ADM009	Adams-Oliver Syndrome 4	21
1638		ACR019	Acropectoral Syndrome	21
1639	c	ADM012	Adams-Oliver Syndrome 6	21
1640	c	MLT078	Multiple Synostoses Syndrome 3	21
1641	c	BRC099	Brachydactyly, Type A4	21
1642		MSM019	Mesomelic Dysplasia, Savarirayan Type	21
1643	c	SYS038	Systemic Lupus Erythematosus 2	21
1644	c	PLY136	Polydactyly, Preaxial I	21
1645	c	FNC061	Fanconi Anemia, Complementation Group W	21
1646	c	SCK033	Seckel Syndrome 8	21
1647		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	21
1648	c	FNC025	Fanconi Anemia, Complementation Group J	21
1649	c	TRC071	Treacher Collins Syndrome 3	21
1650	c	PRV018	Periventricular Nodular Heterotopia 7	21
1651	P	FML337	Familial Chilblain Lupus	20
1652	c	SCK037	Seckel Syndrome 9	20
1653	c	ADM008	Adams-Oliver Syndrome 3	20
1654		ATN012	Autoinflammatory Syndrome, Familial, Behcet-Like	20
1655		SMM003	Summitt Syndrome	20
1656	c	FNC057	Fanconi Anemia, Complementation Group U	20
1657	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	20
1658	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1659		KNS006	Kniest-Like Dysplasia, Lethal	20
1660		SKL006	Skull Base Neoplasm	20
1661	c	INF146	Inflammatory Skin and Bowel Disease, Neonatal, 2	20
1662		THR032	Thoracolaryngopelvic Dysplasia	20
1663		TBT001	Tabatznik Syndrome	20
1664	c	FNC058	Fanconi Anemia, Complementation Group R	20
1665		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	20
1666	c	FNC052	Fanconi Anemia, Complementation Group T	20
1667		SCH031	Scholte Syndrome	20
1668	c	TRC073	Treacher Collins Syndrome 2	20
1669		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	19
1670		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	19
1671	c	FNC056	Fanconi Anemia, Complementation Group V	19
1672		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	19
1673	c	FML270	Familial Cold Autoinflammatory Syndrome 4	19
1674	c	PRV016	Periventricular Nodular Heterotopia 6	19
1675		SHR112	Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies	19
1676		ULN005	Ulna and Fibula, Hypoplasia of	19
1677		PHC016	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia	19
1678		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1679	c	FBR030	Fibrochondrogenesis 2	19
1680		APH015	Aphalangy with Hemivertebrae	19
1681		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	19
1682	c	ANX008	Anauxetic Dysplasia 2	18
1683	c	ORF052	Orofaciodigital Syndrome Xviii	18
1684		THR033	Thoracomelic Dysplasia	18
1685		HMR016	Humeroradioulnar Synostosis	18
1686	c	ORF051	Orofaciodigital Syndrome Xvii	18
1687		MTC100	Metacarpal 4-5 Fusion	18
1688		SCL051	Scalp Defects and Postaxial Polydactyly	18
1689		BRC100	Brachydactyly, Combined B and E Types	18
1690		DYS180	Dyschondrosteosis and Nephritis	18
1691	c	JVN046	Juvenile Polymyositis	18
1692	c	SYS046	Systemic Lupus Erythematosus 3	18
1693		SPN349	Spondylometaphyseal Dysplasia, Type A4	18
1694		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	18
1695		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	18
1696		SPN353	Spondylometaphyseal Dysplasia, X-Linked	18
1697	c	SCK032	Seckel Syndrome 6	18
1698		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
1699		DYS049	Dysplastic Cortical Hyperostosis	17
1700	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	17
1701		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	17
1702	c	STS009	Sotos Syndrome 3	17
1703	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	17
1704	c	SYS069	Systemic Lupus Erythematosus 6	17
1705		FBL014	Fibular Hemimelia	17
1706		OTN001	Otoonychoperoneal Syndrome	17
1707		GNC010	Genochondromatosis	17
1708		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	17
1709	c	SYS053	Systemic Lupus Erythematosus 5	17
1710		SGR001	Sugarman Brachydactyly	17
1711	c	FLN007	Flna-Related Periventricular Nodular Heterotopia	17
1712		CMP016	Camptobrachydactyly	17
1713		RDL030	Radial-Renal Syndrome	17
1714		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	17
1715	c	CHL114	Chilblain Lupus 2	17
1716		CLD006	Cleidorhizomelic Syndrome	17
1717		ORB002	Orbit Embryonal Rhabdomyosarcoma	17
1718		OCL030	Oculoauriculofrontonasal Syndrome	16
1719		CHR159	Charlie M Syndrome	16
1720		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	16
1721		MMB012	Membranous Cranial Ossification, Delayed	16
1722		ADC008	Adactylia, Unilateral	16
1723		SPN120	Spondylocamptodactyly	16
1724		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	16
1725	c	SYM019	Symphalangism, Proximal, 1b	16
1726		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	16
1727	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	16
1728		THR120	Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency	16
1729		LNG102	Long-Thumb Brachydactyly Syndrome	16
1730		TTR010	Tetramelic Monodactyly	16
1731		PLY132	Polysyndactyly, Crossed	16
1732	c	PLY163	Polydactyly, Postaxial, Type A2	16
1733		HRR003	Herrmann Opitz Craniosynostosis	16
1734		CXR001	Coxoauricular Syndrome	16
1735		SPN345	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	16
1736		ECT086	Ectrodactyly-Polydactyly	15
1737		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	15
1738	c	SYS041	Systemic Lupus Erythematosus 9	15
1739	c	SYS040	Systemic Lupus Erythematosus 10	15
1740	c	PLY137	Polydactyly, Preaxial Iii	15
1741		SVR099	Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency	15
1742		PST104	Postaxial Oligodactyly, Tetramelic	15
1743		CHN027	Chondrodysplasia Lethal Recessive	15
1744	c	CLD018	Cleidocranial Dysplasia, Recessive Form	15
1745		AST010	Astley-Kendall Syndrome	15
1746	c	MTP014	Metaphyseal Anadysplasia 2	15
1747	c	ORF039	Orofaciodigital Syndrome Vii	15
1748	c	PLY101	Polydactyly, Postaxial, Type A6	15
1749		DRG017	Drug-Induced Vasculitis	14
1750	c	SYS065	Systemic Lupus Erythematosus 11	14
1751	c	CHN017	Chondrodysplasia Punctata 1, X-Linked	14
1752		GGN006	Gigantiform Cementoma, Familial	14
1753		ACR027	Acrodysplasia Scoliosis	14
1754		FRL002	Froelich Syndrome	14
1755	P	OTP002	Otopalatodigital Spectrum Disorders	14
1756		TRC112	Trochlea of the Humerus, Aplasia of	14
1757	c	PLY144	Polydactyly, Postaxial, Type A7	14
1758	c	PLY103	Polydactyly, Postaxial, Type A5	13
1759	c	SYS055	Systemic Lupus Erythematosus 12	13
1760		IGG017	Igg4-Related Hepatopathy	13
1761	c	MLT166	Multiple Synostoses Syndrome 4	13
1762		NRS002	Neuroaspergillosis	13
1763	c	SYS051	Systemic Lupus Erythematosus 4	13
1764	c	SYS047	Systemic Lupus Erythematosus 7	13
1765	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	12
1766		NNT044	Neonatal Antiphospholipid Syndrome	12
1767		PYD004	Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome	12
1768	c	PLY054	Polydactyly, Postaxial, Type A4	12
1769		IGG012	Igg4-Related Submandibular Gland Disease	12
1770		CRN087	Craniomicromelic Syndrome	11
1771	c	SYS048	Systemic Lupus Erythematosus 8	11
1772	c	SYS052	Systemic Lupus Erythematosus 13	11
1773	c	SYS045	Systemic Lupus Erythematosus 14	11
1774	c	ATM063	Autoimmune Pancreatitis Type 2	11
1775	c	PLY053	Polydactyly, Postaxial, Type A3	11
1776		STR014	Sternum Lymphoma	11
1777		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	11
1778	c	SYS067	Systemic Lupus Erythematosus 15	10
1779		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
1780	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	10
1781		UNC016	Unclassified Vasculitis	10
1782		NNT046	Neonatal Dermatomyositis	10
1783		FMR002	Femoral Cancer	9
1784	c	HLL012	Hallermann-Streiff-Like Syndrome	9
1785		PST031	Postcricoid Region Cancer	9
1786		CND008	Condensing Osteitis of the Clavicle	9
1787	c	EHL037	Ehlers-Danlos Syndrome, Vascular-Like Type	9
1788		ARY001	Aryepiglottic Fold Cancer	8
1789	c	FCS008	Fucosidosis Type 1	8
1790		MLH001	Melhem Fahl Syndrome	8
1791		DBR003	Dobrow Syndrome	8
1792		NRD020	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion	8
1793		WBS001	Webster Deming Syndrome	8
1794		SFT001	Soft Tissue Peripheral Neuroepithelioma	8
1795		OLG018	Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	8
1796		OLG019	Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	8
1797		BNL004	Benallegue Lacete Syndrome	8
1798	c	PRS050	Prss1-Related Hereditary Pancreatitis	7
1799		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	7
1800	c	GM2001	Gm2 Gangliosidosis, 0 Variant	7
1801		NRH002	Neurohypophysis Granular Cell Tumor	7
1802	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
1803	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	6
1804		NNT043	Neonatal Scleroderma	5
1805		PST098	Postinfectious Vasculitis	5
1806		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	5
1807		GNG007	Ganglion or Cyst of Synovium/tendon/bursa	5
1808	c	OCL037	Oculodentodigital Dysplasia Dominant	5
1809	P	SYC001	Say Carpenter Syndrome	5
1810		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	59
1811	P	SHW006	Shwachman-Diamond Syndrome 1	62
1812	c	SHW007	Shwachman-Diamond Syndrome 2	15
1813		APL001	Aplastic Anemia	73
1814	P	DNT011	Dentinogenesis Imperfecta	46
1815	P	HYP756	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	56
1816	c	HYP373	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive	33
1817		KSK002	Kosaki Overgrowth Syndrome	23
1818		PRM288	Permanent Molars, Secondary Retention of	23
1819		BSL036	Basal Cell Nevus Syndrome	65
1820	P	NTR004	Neutropenia	60
1821	c	ORF040	Orofaciodigital Syndrome Viii	58
1822	c	SVR003	Severe Congenital Neutropenia	58
1823	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	36
1824	c	ORF035	Orofaciodigital Syndrome Iv	34
1825	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
1826	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	31
1827	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	29
1828	c	ORF033	Orofaciodigital Syndrome V	27
1829	c	ORF038	Orofaciodigital Syndrome Iii	25
1830	c	ORF041	Orofaciodigital Syndrome X	25
1831	c	ORF043	Orofaciodigital Syndrome Ix	24
1832	c	ORF042	Orofaciodigital Syndrome Xi	23
1833	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	21
1834	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	21
1835	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
1836	c	NTR045	Neutropenia, Chronic Familial	18
1837	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	17
1838	c	ORF006	Orofaciodigital Syndrome 13	13
1839	c	ORF005	Orofaciodigital Syndrome 12	13
1840		ACH018	Achondroplasia and Severe Combined Immunodeficiency	7
1841	c	ELN001	Elane-Related Neutropenia	7
1842		PMS001	Poems Syndrome	63
1843		CMP075	Campomelia, Cumming Type	27
1844		MNS016	Monosomy 7 of Bone Marrow	24
1845		CRN070	Corneodermatoosseous Syndrome	22
1846	P	FML048	Familial Avascular Necrosis of the Femoral Head	17
1847		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	12
1848	P	DST002	Distal Arthrogryposis	56
1849	c	ART119	Arthrogryposis, Distal, Type 5	49
1850	c	ART120	Arthrogryposis, Distal, Type 3	48
1851	c	ART061	Arthrogryposis, Distal, Type 2a	45
1852	c	ART144	Arthrogryposis, Distal, Type 1a	44
1853		3MC003	3mc Syndrome	42
1854	c	ART146	Arthrogryposis, Distal, Type 9	41
1855	c	ART147	Arthrogryposis, Distal, Type 7	34
1856		MND001	Mandibular Cancer	32
1857	c	ART112	Arthrogryposis, Distal, Type 10	27
1858	c	ART104	Arthrogryposis, Distal, Type 5d	26
1859	c	ART122	Arthrogryposis, Distal, Type 8	24
1860	c	ART128	Arthrogryposis, Distal, Type 6	23
1861	c	ART131	Arthrogryposis, Distal, Type 4	22
1862		MCR305	Microcephaly with Cervical Spine Fusion Anomalies	21
1863	c	ART060	Arthrogryposis, Distal, Type 1b	20
1864		THY064	Thyroid Hormone Metabolism, Abnormal	19
1865		ARC009	Auriculoosteodysplasia	17
1866	c	ART054	Arthrogryposis, Distal, Type 2e	16
1867	c	DNT047	Dentinogenesis Imperfecta Type 2	14
1868		MXL001	Maxillary Neoplasm	11
1869	P	FML018	Familial Mediterranean Fever	73
1870		SCK003	Sickle Cell Anemia	72
1871		WGN006	Wegener Granulomatosis	70
1872		KWS002	Kawasaki Disease	70
1873	P	SYS005	Systemic Scleroderma	66
1874	P	SRC025	Sarcoidosis 1	66
1875	P	TMP003	Temporal Arteritis	66
1876		MXD005	Mixed Connective Tissue Disease	65
1877	c	LCL006	Localized Scleroderma	64
1878	c	SCL052	Scleroderma, Familial Progressive	64
1879	P	DRM010	Dermatomyositis	64
1880		RCT015	Reactive Arthritis	63
1881		STH001	Saethre-Chotzen Syndrome	63
1882	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	63
1883		CHR072	Chordoma	63
1884		RCK004	Rickets	62
1885		CNC002	Cinca Syndrome	62
1886	P	GCH001	Gaucher's Disease	62
1887	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	62
1888	P	CRN038	Carney Complex Variant	61
1889	P	FBR017	Fibrosarcoma	61
1890	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	60
1891	P	MCK013	Meckel Syndrome, Type 1	59
1892		PRD013	Periodic Fever, Familial, Autosomal Dominant	59
1893	P	DNT020	Dent Disease 1	59
1894		PRC002	Paracoccidioidomycosis	58
1895		LCR014	Lacrimoauriculodentodigital Syndrome	58
1896		UND005	Undifferentiated Pleomorphic Sarcoma	58
1897		THR009	Thrombocytopenia-Absent Radius Syndrome	58
1898	c	GCH015	Gaucher Disease, Type I	57
1899	P	ALL008	Allergic Bronchopulmonary Aspergillosis	57
1900	c	HRD002	Hereditary Angioedema	56
1901		CHL028	Childhood Type Dermatomyositis	56
1902		DHY002	Dihydropyrimidine Dehydrogenase Deficiency	55
1903		PYD001	Pyoderma Gangrenosum	55
1904	P	EHL052	Ehlers-Danlos Syndrome, Vascular Type	55
1905	P	TRC086	Trichohepatoenteric Syndrome 1	54
1906	P	FML052	Familial Cold Autoinflammatory Syndrome	53
1907	c	INF071	Inflammatory Bowel Disease 1	53
1908	P	INF037	Inflammatory Bowel Disease	53
1909		DFF035	Diffuse Cutaneous Systemic Sclerosis	52
1910	P	MRG008	Meier-Gorlin Syndrome 1	52
1911	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
1912		HYP074	Hypersensitivity Vasculitis	51
1913	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	50
1914		PLN006	Poland Syndrome	50
1915	c	RBN021	Rubinstein-Taybi Syndrome 1	49
1916		RYS001	Reye Syndrome	49
1917		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	49
1918	P	BRT029	Brittle Cornea Syndrome 2	49
1919		LMT001	Limited Scleroderma	49
1920		ADL002	Adult Syndrome	49
1921	P	FML068	Familial Hypocalciuric Hypercalcemia	48
1922		LKC005	Leukocyte Adhesion Deficiency, Type Iii	48
1923		SND002	Sneddon Syndrome	48
1924		KMR001	Kimura Disease	48
1925	c	GCH017	Gaucher Disease, Type Iii	47
1926		RYN003	Reynolds Syndrome	47
1927		MLT016	Multicentric Reticulohistiocytosis	47
1928		FML091	Familial Tumoral Calcinosis	46
1929	c	GCH016	Gaucher Disease, Type Ii	44
1930	c	PSR021	Psoriasis 14, Pustular	44
1931		EXT031	Extraosseous Ewing's Sarcoma	44
1932	c	HYP608	Hypocalciuric Hypercalcemia, Familial, Type Iii	43
1933	P	AMY084	Amyloidosis, Finnish Type	43
1934	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	43
1935	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	42
1936	P	ISL078	Isolated Ectopia Lentis	42
1937	P	PST059	Pustular Psoriasis	40
1938	c	ADL027	Adult Dermatomyositis	40
1939		HYL004	Hyaline Fibromatosis Syndrome	40
1940	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	39
1941		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	39
1942		RPD002	Rapadilino Syndrome	39
1943	c	ADL019	Adult Fibrosarcoma	39
1944	c	SPL067	Split-Hand/foot Malformation 1	38
1945	c	HYP752	Hypocalciuric Hypercalcemia, Familial, Type I	38
1946	c	HYP753	Hypocalciuric Hypercalcemia, Familial, Type Ii	38
1947		HYP193	Hypocomplementemic Urticarial Vasculitis	37
1948	c	CNG023	Congenital Fibrosarcoma	37
1949		JWC001	Jaw Cancer	37
1950		KKC001	Kikuchi Disease	37
1951	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	37
1952		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	37
1953	c	MNT135	Mental Retardation, X-Linked, Syndromic 13	36
1954		MLN001	Melanotic Neuroectodermal Tumor	36
1955		PLY030	Polydactyly Cleft Lip Palate Psychomotor Retardation	35
1956		DQR001	De Quervain Disease	35
1957		LYS018	Loeys-Dietz Syndrome 2	35
1958		WRN004	Wrinkly Skin Syndrome	35
1959	c	TRC078	Trichohepatoenteric Syndrome 2	34
1960	P	SPN370	Spondylodysplastic Ehlers-Danlos Syndrome	34
1961		ATN013	Autoinflammation, Panniculitis, and Dermatosis Syndrome	34
1962		ARC008	Auriculo-Condylar Syndrome	33
1963	c	INF086	Inflammatory Bowel Disease 3	33
1964		ACR025	Acrocephalopolydactylous Dysplasia	32
1965		MHR002	Mohr Syndrome	32
1966	c	EHL080	Ehlers-Danlos Syndrome, Musculocontractural Type, 1	32
1967		RFM001	Roifman Syndrome	32
1968		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	31
1969		NTR042	Neutrophilic Dermatosis, Acute Febrile	31
1970		SPN248	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	31
1971	c	MCK033	Meckel Syndrome, Type 4	31
1972		EHL079	Ehlers-Danlos Syndrome, Dermatosparaxis Type	31
1973	c	MCK012	Meckel Syndrome, Type 6	30
1974	c	MCK030	Meckel Syndrome, Type 7	30
1975		FTL029	Fetal Thalidomide Syndrome	30
1976	c	SRC023	Sarcoidosis 2	29
1977	c	CRN243	Carney Complex, Type 1	29
1978	c	INF087	Inflammatory Bowel Disease 4	28
1979	c	BRT028	Brittle Cornea Syndrome 1	28
1980	c	GCH013	Gaucher Disease, Type Iiic	28
1981	c	MNT185	Mental Retardation, Autosomal Dominant 7	28
1982	P	MNT319	Mental Retardation, Autosomal Dominant 20	28
1983		IVC001	Ivic Syndrome	28
1984	P	MSC134	Musculocontractural Ehlers-Danlos Syndrome	28
1985		CSN001	Cousin Syndrome	28
1986		GHS005	Ghosal Hematodiaphyseal Dysplasia	28
1987	c	FML253	Familial Cold Autoinflammatory Syndrome 3	28
1988	c	MNT212	Mental Retardation, Autosomal Dominant 26	27
1989	c	INF089	Inflammatory Bowel Disease 6	26
1990	c	INF092	Inflammatory Bowel Disease 9	26
1991		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	26
1992		EVN003	Even-Plus Syndrome	26
1993	c	MNT145	Mental Retardation, Autosomal Recessive 5	26
1994		CLF045	Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa	26
1995	c	MNT296	Mental Retardation, X-Linked, Syndromic 34	26
1996	c	MNT143	Mental Retardation, Autosomal Dominant 13	26
1997	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	26
1998	c	MCK032	Meckel Syndrome, Type 3	26
1999	c	MNT210	Mental Retardation, Autosomal Recessive 42	25
2000	c	MNT157	Mental Retardation, Autosomal Dominant 18	25
2001	c	MNT280	Mental Retardation, Autosomal Dominant 43	25
2002	c	MNT158	Mental Retardation, Autosomal Dominant 22	25
2003	c	MNT322	Mental Retardation, Autosomal Dominant 27	25
2004		HYP629	Hyperphosphatasia-Intellectual Disability Syndrome	25
2005	c	MNT295	Mental Retardation, X-Linked, Syndromic 33	25
2006	c	MNT270	Mental Retardation, Autosomal Recessive 53	25
2007	c	MNT241	Mental Retardation, Autosomal Dominant 32	24
2008	c	MNT166	Mental Retardation, Autosomal Recessive 39	24
2009	c	MNT222	Mental Retardation, Autosomal Dominant 29	24
2010	c	MRG010	Meier-Gorlin Syndrome 3	24
2011	c	MNT214	Mental Retardation, Autosomal Dominant 24	24
2012	c	MNT287	Mental Retardation, Autosomal Recessive 57	24
2013	P	MNT298	Mental Retardation, X-Linked, Syndromic, 35	24
2014	c	MNT246	Mental Retardation, Autosomal Dominant 38	24
2015	c	INF075	Inflammatory Bowel Disease 16	24
2016		JNT001	Joint Laxity, Familial	24
2017	c	MNT213	Mental Retardation, Autosomal Recessive 40	24
2018	c	MCK031	Meckel Syndrome, Type 2	23
2019	c	MNT242	Mental Retardation, Autosomal Dominant 40	23
2020	c	INF088	Inflammatory Bowel Disease 5	23
2021	c	MRG015	Meier-Gorlin Syndrome 7	23
2022	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	23
2023	c	JVN019	Juvenile Temporal Arteritis	23
2024	c	ALL027	Allergic Bronchopulmonary Aspergillosis, Familial	23
2025	c	MNT150	Mental Retardation, Autosomal Recessive 15	23
2026	c	MNT239	Mental Retardation, Autosomal Dominant 35	23
2027	c	MNT155	Mental Retardation, Autosomal Recessive 2	23
2028	c	MNT219	Mental Retardation, Autosomal Dominant 30	23
2029	c	MNT258	Mental Retardation, X-Linked, Syndromic, Wu Type	23
2030	c	MNT262	Mental Retardation, Autosomal Dominant 42	23
2031	c	FML249	Familial Amyloidosis, Finnish Type	23
2032	c	MCK034	Meckel Syndrome, Type 8	23
2033	c	MNT226	Mental Retardation, Autosomal Dominant 31	23
2034	c	MNT216	Mental Retardation, Autosomal Recessive 41	23
2035	c	MNT176	Mental Retardation, Autosomal Recessive 38	23
2036	c	MNT321	Mental Retardation, Autosomal Recessive 37	23
2037	c	MNT238	Mental Retardation, Autosomal Dominant 34	22
2038	c	MNT183	Mental Retardation, Autosomal Recessive 36	22
2039	c	MNT273	Mental Retardation, Autosomal Dominant 44	22
2040		CRN104	Craniotelencephalic Dysplasia	22
2041	c	MNT282	Mental Retardation, Autosomal Recessive 55	22
2042	c	MCK014	Meckel Syndrome, Type 5	22
2043	c	MNT159	Mental Retardation, Autosomal Dominant 19	22
2044	c	MNT221	Mental Retardation, Autosomal Recessive 44	22
2045	c	MNT211	Mental Retardation, Autosomal Dominant 23	22
2046	c	MCK035	Meckel Syndrome, Type 10	22
2047	c	MNT191	Mental Retardation, X-Linked, Syndromic 17	22
2048	c	MCK026	Meckel Syndrome 12	22
2049	c	MNT245	Mental Retardation, Autosomal Dominant 36	22
2050	c	MNT181	Mental Retardation, Autosomal Recessive 35	22
2051		PRX093	Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias	22
2052	c	MNT236	Mental Retardation, Autosomal Dominant 39	21
2053	c	MNT244	Mental Retardation, Autosomal Recessive 49	21
2054	c	INF078	Inflammatory Bowel Disease 2	21
2055	c	MNT207	Mental Retardation, X-Linked, Syndromic 32	21
2056	c	MNT179	Mental Retardation, Autosomal Dominant 21	21
2057	c	MNT227	Mental Retardation, Autosomal Recessive 46	21
2058	c	MNT325	Mental Retardation, Autosomal Recessive 61	21