Bone Diseases Category (2777 diseases)

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

#	Family	MCID	Name	MIFTS
1	P	PLY180	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 1	47
2	c	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	46
3		OST012	Osteoarthritis	81
4	P	PGT001	Paget's Disease of Bone	62
5	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	43
6	c	HRD104	Hereditary Multiple Osteochondromas	41
7	P	OST002	Osteoporosis	74
8	P	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	41
9		BRT054	Brittle Bone Disorder	71
10	P	OST001	Osteopetrosis	63
11	c	OST163	Osteopetrosis, Autosomal Recessive 3	51
12	c	OST126	Osteopetrosis, Autosomal Recessive 1	38
13	c	OST120	Osteopetrosis, Autosomal Recessive 5	26
14		CHR288	Chronic Recurrent Multifocal Osteomyelitis	57
15	P	BNC003	Bone Cancer	61
16	P	OST080	Osteogenesis Imperfecta, Type Ii	59
17		FML345	Familial Expansile Osteolysis	45
18		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	31
19		GRC002	Gracile Bone Dysplasia	29
20	c	OST131	Osteopetrosis, Autosomal Dominant 2	53
21		OST159	Osteogenic Sarcoma	67
22	P	RHM011	Rheumatoid Arthritis	82
23		CRT002	Cartilage-Hair Hypoplasia	58
24		WRT006	Worth Type Autosomal Dominant Osteosclerosis	11
25	c	OST135	Osteogenesis Imperfecta, Type I	57
26		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	55
27	c	OST129	Osteopetrosis, Autosomal Recessive 2	46
28	c	OST136	Osteopetrosis, Autosomal Recessive 7	43
29	c	OST134	Osteopetrosis, Autosomal Recessive 6	31
30	c	OST122	Osteogenesis Imperfecta, Type Iii	58
31	c	OST164	Osteoporosis, Juvenile	56
32		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	40
33		GRH001	Gorham's Disease	40
34	c	FML169	Familial Osteochondritis Dissecans	31
35	c	JVN010	Juvenile Rheumatoid Arthritis	72
36	c	OST119	Osteogenesis Imperfecta, Type Vii	48
37		ALB001	Albright's Hereditary Osteodystrophy	55
38		OST044	Osteoglophonic Dysplasia	53
39		BSC001	Buschke-Ollendorff Syndrome	49
40	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	41
41	c	OST137	Osteopetrosis, Autosomal Recessive 4	26
42		DPH007	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	30
43		KHL001	Kohler's Disease	19
44		LGG001	Legg-Calve-Perthes Disease	62
45		BNG036	Bone Giant Cell Tumor	51
46		BNW001	Bone Ewing's Sarcoma	48
47		HJD001	Hajdu-Cheney Syndrome	62
48		ONC003	Oncogenic Osteomalacia	46
49		BNT003	Bent Bone Dysplasia Syndrome	41
50		TRC039	Tracheobronchopathia Osteoplastica	18
51		CRT017	Cartilage Disease	52
52	c	OST125	Osteopetrosis, Autosomal Dominant 1	26
53		GRD006	Geroderma Osteodysplastica	26
54	c	OST121	Osteogenesis Imperfecta, Type Iv	50
55	c	OST132	Osteogenesis Imperfecta, Type Vi	43
56		RNS001	Raine Syndrome	48
57		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	28
58	c	PRM243	Primary Bone Cancer	20
59	c	JVN025	Juvenile Primary Osteoporosis	14
60		OST003	Osteonecrosis	67
61		ENC044	Enchondromatosis, Multiple, Ollier Type	53
62		CRP009	Carpotarsal Osteochondromatosis	9
63		BND020	Bone Disease	65
64		OST016	Osteochondrosis	56
65		END081	Endosteal Hyperostosis, Autosomal Dominant	54
66		OSG001	Osgood-Schlatter's Disease	40
67		AXL003	Axial Osteomalacia	33
68	P	SPN400	Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures	23
69		OST022	Osteopathia Striata with Cranial Sclerosis	46
70		SCH072	Scheuermann Disease	41
71		MJD001	Majeed Syndrome	34
72		MLT033	Multicentric Osteolysis Nephropathy	9
73	P	NGT001	Negative Rheumatoid Factor Polyarthritis	7
74		BNM001	Bone Marrow Cancer	60
75	P	CNT056	Cantu Syndrome	50
76		ANR009	Aneurysmal Bone Cysts	48
77	c	EXS019	Exostoses, Multiple, Type I	48
78		OST014	Osteopoikilosis	40
79		CYS041	Cystic Angiomatosis of Bone, Diffuse	31
80	c	OST130	Osteogenesis Imperfecta, Type Ix	31
81	c	OST128	Osteogenesis Imperfecta, Type Xii	28
82		MLR010	Melorheostosis with Osteopoikilosis	24
83		DNT050	Dentin Dysplasia with Sclerotic Bones	14
84	c	CNT094	Cantú Syndrome and Related Disorders	5
85	P	OST009	Osteochondritis Dissecans	59
86		OST032	Osteofibrous Dysplasia	52
87	c	OST124	Osteogenesis Imperfecta, Type V	49
88		MNT252	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	33
89	c	OST118	Osteogenesis Imperfecta, Type Viii	44
90		BNS001	Bone Osteosarcoma	40
91		KNB002	Kienbock's Disease	30
92	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	29
93	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	27
94	P	BNM015	Bone Mineral Density Quantitative Trait Locus 18	25
95		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	22
96		NVC001	Navicular Bone, Accessory	19
97	c	OST110	Osteogenesis Imperfecta, Type Xv	37
98	c	OST127	Osteogenesis Imperfecta, Type X	33
99	c	OST133	Osteogenesis Imperfecta, Type Xi	32
100	c	OST139	Osteogenesis Imperfecta, Type Xvi	26
101	c	OST123	Osteogenesis Imperfecta, Type Xiii	26
102	c	OST109	Osteogenesis Imperfecta, Type Xiv	23
103		PCM001	Pacman Dysplasia	22
104		BZZ001	Bizzare Parosteal Osteochondromatous Proliferation	16
105		OSS012	Osseous Heteroplasia, Progressive	58
106	c	PSD108	Pseudohypoparathyroidism, Type Ia	57
107	P	CHN012	Chondrosarcoma	57
108	P	PSD015	Pseudohypoparathyroidism	51
109		GNT026	Gnathodiaphyseal Dysplasia	37
110		CDS002	Codas Syndrome	32
111		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	19
112	c	LCL005	Localized Chondrosarcoma	8
113		RNL011	Renal Osteodystrophy	49
114		MLN014	Melnick-Needles Syndrome	40
115		GRD005	Geroderma Osteodysplasticum	31
116	c	OST138	Osteogenesis Imperfecta, Type Xvii	23
117	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	23
118		RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	22
119		OSL001	Oslam Syndrome	20
120		OST149	Osteolysis Syndrome, Recessive	19
121		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	18
122		FRN047	Frontonasal Dysplasia with Alar Clefts	17
123		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	16
124		ALT005	Aloi Tomasini Isaia Syndrome	8
125		OST013	Osteosarcoma Arising in Bone Paget's Disease	7
126		DST005	Diastrophic Dysplasia	53
127		CHN054	Chondrodysplasia, Blomstrand Type	45
128		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	31
129		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	20
130	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	53
131		KTL001	Keutel Syndrome	39
132		BMR001	Boomerang Dysplasia	36
133	c	KNN007	Kenny-Caffey Syndrome, Type 2	30
134	c	BNM010	Bone Marrow Failure Syndrome 1	26
135		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	25
136		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	24
137		OST117	Osteomesopyknosis	21
138		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	15
139		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	14
140		KNS001	Kniest Dysplasia	53
141	c	SCN005	Secondary Hypertrophic Osteoarthropathy	43
142	c	PGT007	Paget Disease of Bone 3	40
143		JXT003	Juxtacortical Osteosarcoma	39
144		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	39
145		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	37
146		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	37
147		SLT009	Solitary Bone Cyst	36
148	P	INH011	Inherited Bone Marrow Failure Syndromes	34
149		PRP024	Peripheral Osteosarcoma	32
150	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	31
151	c	PGT009	Paget Disease of Bone 2, Early-Onset	26
152		CNV007	Conventional Central Osteosarcoma	26
153		SML003	Small Cell Osteogenic Sarcoma	24
154	c	OST106	Osteopetrosis, Autosomal Recessive 8	23
155		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	17
156		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	16
157		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	15
158		OST034	Osteogenesis Imperfecta Levin Type	9
159		RHM031	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	9
160		RHM030	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	9
161		LRY012	Laryngeal Cartilage Cancer	8
162		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	6
163		INF051	Infantile Recurrent Chronic Multifocal Osteomyolitis	3
164		ACH004	Achondroplasia	69
165		OST017	Osteomyelitis	65
166		OST011	Osteomalacia	52
167		EXS001	Exostosis	47
168		OST004	Osteitis Fibrosa	44
169	P	CLC057	Cole-Carpenter Syndrome	37
170		OST062	Osteoarthritis with Mild Chondrodysplasia	30
171		TRC115	Tracheopathia Osteoplastica	28
172		EKN001	Eiken Syndrome	22
173	c	BNM011	Bone Marrow Failure Syndrome 2	21
174		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	21
175	c	PGT011	Paget Disease of Bone 6	21
176		SHR027	Short Stature Wormian Bones Dextrocardia	12
177		BNN003	Bone Inflammation Disease	47
178		SKL017	Skeletal Dysplasias	46
179		GLC086	Glucocorticoid-Induced Osteoporosis	46
180		MRS004	Marshall-Smith Syndrome	41
181	P	ACH011	Achondrogenesis	41
182	P	BNL002	Bone Lymphoma	32
183		SKL001	Skeletal Tuberculosis	30
184		HMM004	Hamamy Syndrome	25
185	c	PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	24
186		SLW006	Saul-Wilson Syndrome	24
187	c	OST169	Osteogenesis Imperfecta, Type Xviii	23
188		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	21
189		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	21
190		BND017	Bone Dysplasia, Lethal, Holmgren Type	21
191		BRS030	Breast Osteosarcoma	20
192	c	PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	17
193		OST047	Osteopenia and Sparse Hair	17
194		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	17
195		OST058	Osteopoikilosis and Dacryocystitis	17
196		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	15
197		KDN010	Kidney Osteogenic Sarcoma	13
198		CHS003	Chest Wall Bone Cancer	9
199		ADM013	Adamantinoma of Long Bones	64
200		BNR002	Bone Resorption Disease	54
201	P	OST028	Osteochondroma	53
202	c	BNM029	Bone Mineral Density Quantitative Trait Locus 15	46
203	P	BRC015	Bruck Syndrome	44
204		PRS029	Periosteal Osteogenic Sarcoma	42
205	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	40
206		FBR013	Fibrosarcomatous Osteosarcoma	38
207	P	EXT032	Extraosseous Osteosarcoma	37
208		DYS013	Dysbaric Osteonecrosis	36
209		SKL003	Skeletal Muscle Cancer	34
210		CHP002	Chops Syndrome	32
211		CL1004	Col1a1/2-Related Osteogenesis Imperfecta	31
212		BNP002	Bone Epithelioid Hemangioma	26
213		HGH023	High Bone Mass Osteogenesis Imperfecta	26
214		BNG005	Bone Giant Cell Sarcoma	25
215		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	23
216		BNF003	Bone Fragility with Contractures, Arterial Rupture, and Deafness	22
217	c	OST170	Osteogenesis Imperfecta, Type Xix	20
218		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	17
219		PYK001	Pyknoachondrogenesis	16
220		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	15
221		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	15
222		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	15
223	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	15
224	c	ADL034	Adult Extraosseous Osteosarcoma	13
225		OST172	Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits	13
226		PLY028	Polycystic Bone Disease	13
227		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	13
228		BWN005	Bowing of Long Bones Congenital	12
229		CHL007	Childhood Extraosseous Osteosarcoma	9
230	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	9
231		HPT017	Hepatic Osteogenic Sarcoma	9
232		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	8
233		MLG006	Malignant Neoplasm of Short Bones of Lower Limb	8
234		MDS009	Mediastinal Osteogenic Sarcoma	8
235		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	3
236		HYP068	Hyperostosis	52
237		BNF002	Bone Fracture	50
238		ACR002	Acrocapitofemoral Dysplasia	40
239		OPS002	Opsismodysplasia	38
240		CZC002	Czech Dysplasia	30
241	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	20
242		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	8
243		HYP042	Hypochondroplasia	59
244		FBR009	Fibrous Dysplasia	49
245		GRN034	Grange Syndrome	47
246		OST006	Osteoblastoma	40
247		RHM036	Rheumatoid Arthritis Interstitial Lung Disease	36
248	c	DNT025	Dentinogenesis Imperfecta 1	35
249		CHR543	Chromosome 2q37 Deletion Syndrome	35
250		AKL001	Au-Kline Syndrome	31
251	c	EXS020	Exostoses, Multiple, Type Ii	29
252	P	LTH003	Lethal Congenital Contracture Syndrome	29
253	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
254		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
255	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
256	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
257		STR088	Stratton-Parker Syndrome	23
258	c	LTH047	Lethal Congenital Contracture Syndrome 3	23
259	c	LTH039	Lethal Congenital Contracture Syndrome 11	23
260		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	22
261	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
262	c	LTH029	Lethal Congenital Contracture Syndrome 9	22
263	c	LTH032	Lethal Congenital Contracture Syndrome 7	21
264	c	ERL004	Early Yaws	20
265	c	OST171	Osteopetrosis, Autosomal Dominant 3	20
266	c	SPN380	Spinal Muscular Atrophy with Congenital Bone Fractures 2	20
267	c	LTY001	Late Yaws	19
268	c	LTH026	Lethal Congenital Contracture Syndrome 4	18
269	c	BNM032	Bone Marrow Failure Syndrome 4	18
270		PNN003	Panner Disease	16
271	c	DNT048	Dentinogenesis Imperfecta Type 3	12
272	c	PLY181	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	11
273		LNG027	Long Bones of Lower Limb Cancer	8
274	P	FNC027	Fanconi Anemia, Complementation Group a	81
275	P	LYS001	Loeys-Dietz Syndrome	62
276	c	LYS019	Loeys-Dietz Syndrome 1	54
277	P	PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	49
278	c	LYS017	Loeys-Dietz Syndrome 4	47
279	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	47
280		MLR003	Melorheostosis	47
281		TLN002	Telangiectatic Osteogenic Sarcoma	45
282	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	43
283	c	FNC058	Fanconi Anemia, Complementation Group R	43
284	c	LYS018	Loeys-Dietz Syndrome 2	42
285	c	FNC057	Fanconi Anemia, Complementation Group U	42
286	c	FNC056	Fanconi Anemia, Complementation Group V	41
287		MLG014	Malignant Fibrous Histiocytoma of Bone	41
288	c	FNC046	Fanconi Anemia, Complementation Group P	39
289		OST097	Osteoporotic Fracture	36
290	c	FNC062	Fanconi Anemia, Complementation Group S	35
291		CHN003	Chondroblastic Osteosarcoma	35
292		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	34
293		PDT021	Pediatric Osteosarcoma	34
294		SKL002	Skeletal Muscle Neoplasm	33
295		FBR002	Fibrosarcoma of Bone	32
296		BNR001	Bone Remodeling Disease	31
297		LCL004	Localized Osteosarcoma	28
298	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	27
299	c	CLC056	Cole-Carpenter Syndrome 1	22
300	c	BNM013	Bone Marrow Failure Syndrome 3	22
301	c	FNC061	Fanconi Anemia, Complementation Group W	22
302	c	PRM151	Primary Bone Lymphoma	20
303	c	PGT006	Paget Disease of Bone 4	19
304		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	19
305		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	19
306	P	MLT017	Multifocal Osteogenic Sarcoma	18
307		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	18
308		BMR004	Beemer Lethal Malformation Syndrome	18
309		LSS034	Lissencephaly Type Iii and Bone Dysplasia	18
310		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	18
311		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	15
312	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	15
313		LPS001	Liposarcoma of Bone	14
314	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	14
315		INT073	Intracortical Osteogenic Sarcoma	14
316		SYN002	Synchronous Multifocal Osteogenic Sarcoma	13
317		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	12
318		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	11
319		SHR094	Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	11
320	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	11
321		OST156	Osteosclerosis with Ichthyosis and Fractures	10
322		DST098	Distal Osteosclerosis	10
323		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	10
324		BNN002	Bone Angioendothelial Sarcoma	10
325		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	8
326		CHL041	Childhood Intracortical Osteosarcoma	7
327		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	6
328		CHL001	Childhood Parosteal Osteogenic Sarcoma	6
329	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	6
330		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	6
331		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	5
332		MTC001	Metachronous Osteosarcoma of the Bone	5
333		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	5
334		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	5
335		DWR006	Dwarfism Lethal Type Advanced Bone Age	3
336		GGN003	Gigantism Advanced Bone Age Hoarse Cry	3
337		HYD022	Hydrocephalus Skeletal Anomalies	3
338		BRT025	Brittle Bone Syndrome Lethal Type	3
339		CTR016	Cataract Skeletal Anomalies	3
340		DWR010	Dwarfism Thin Bones Multiple Fractures	3
341		OCL029	Oculo Skeletal Renal Syndrome	3
342	c	PST038	Positive Rheumatoid Factor Polyarthritis	2
343		HYD020	Hydrocephalus Growth Retardation Skeletal Anomalies	2
344		CRN080	Craniofacial and Skeletal Defects	2
345		CTS007	Cutis Laxa Osteoporosis	2
346		CRP008	Carpo Tarsal Osteolysis Recessive	2
347		TBB002	Tibiae Bowed Radial Anomalies Osteopenia Fracture	2
348		PRR012	Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	2
349	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	63
350	P	INF049	Infantile Myofibromatosis	50
351	P	HRD001	Hereditary Multiple Exostoses	45
352	c	ACH033	Achondrogenesis, Type Ia	45
353	P	OTS002	Otospondylomegaepiphyseal Dysplasia	44
354		CHN004	Chondroblastoma	41
355	c	MYF007	Myofibromatosis, Infantile, 1	39
356		OST115	Osteonecrosis of the Jaw	38
357		END059	Endocrine-Cerebroosteodysplasia	35
358	P	BRC003	Brachyolmia	31
359		OST160	Osteoid Osteoma	31
360		BND014	Bone Development Disease	30
361		DYS045	Dysosteosclerosis	29
362		CPL004	Caplan's Syndrome	29
363		BNS002	Bone Structure Disease	26
364	c	FBR029	Fibrochondrogenesis 1	22
365		PTR001	Petrositis	22
366		OST168	Osteosclerotic Metaphyseal Dysplasia	21
367	c	BRC053	Brachyolmia Type 2	20
368		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	20
369		SHR114	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies	19
370		SKL011	Skeletal Defects, Genital Hypoplasia, and Mental Retardation	18
371	c	HYP831	Hyperparathyroidism, Transient Neonatal	17
372	c	BNM033	Bone Marrow Failure Syndrome 5	16
373		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	12
374		CHR633	Choroidal Osteoma, Bilateral	11
375	P	ART022	Arthritis	78
376		CNN005	Connective Tissue Disease	67
377	P	HMC002	Homocystinuria	51
378		HYP017	Hypophosphatemia	48
379	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	46
380	P	OSS001	Ossifying Fibroma	45
381	P	FRN012	Frontometaphyseal Dysplasia	45
382	c	ATS082	Autosomal Dominant Robinow Syndrome	45
383	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	42
384	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	42
385		PTL009	Patella, Chondromalacia of	41
386		MCP033	Mucopolysaccharidoses	40
387	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	40
388		HYP041	Hypochondrogenesis	39
389		CRN049	Craniolenticulosutural Dysplasia	39
390	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
391	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	36
392		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	35
393		RHM013	Rheumatoid Nodulosis	35
394	c	TRN014	Transient Arthritis	32
395		BNS004	Bone Squamous Cell Carcinoma	32
396	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	31
397		HYP674	Hyperostosis Cranialis Interna	31
398		ISC005	Ischemic Bone Disease	30
399	c	FRN048	Frontometaphyseal Dysplasia 2	29
400		CHN070	Cohen-Gibson Syndrome	29
401	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	28
402		BND004	Bone Deterioration Disease	28
403	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	27
404	c	SNG011	Singleton-Merten Syndrome 1	26
405		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	25
406		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	23
407		CRN272	Craniometadiaphyseal Dysplasia	22
408		CLB033	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness	22
409		SPC025	Specific Granule Deficiency 2	22
410		BNC005	Bone Chondrosarcoma	21
411		PRT108	Puerto Rican Infant Hypotonia Syndrome	20
412		BNB001	Bone Benign Neoplasm	20
413	c	FBR030	Fibrochondrogenesis 2	19
414	c	JVN045	Juvenile Ossifying Fibroma	17
415	c	RR2001	Ror2-Related Robinow Syndrome	12
416		ORB004	Orbital Osteomyelitis	11
417		SND010	Sinding-Larsen-Johansson Disease	9
418		SHR119	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	7
419		BNM012	Bone Ameloblastoma	6
420	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	3
421	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	3
422	P	DMN001	Diamond-Blackfan Anemia	71
423	P	DYS007	Dyskeratosis Congenita	67
424	P	SYP003	Syphilis	58
425	P	MSC003	Muscular Atrophy	56
426	c	BRC078	Brachydactyly, Type A1	54
427	c	DMN023	Diamond-Blackfan Anemia 1	53
428	c	HYP293	Hypophosphatasia, Adult	53
429		AGN012	Agnathia-Otocephaly Complex	53
430	c	HYP292	Hypophosphatasia, Infantile	51
431	P	BRC006	Brachydactyly	50
432	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	48
433	c	ACH042	Achondrogenesis, Type Ib	47
434	c	RBN009	Robinow Syndrome, Autosomal Recessive	47
435	P	HRD086	Hereditary Hypophosphatemic Rickets	45
436	c	BRC060	Brachydactyly, Type E2	44
437	c	PRM022	Primary Syphilis	44
438		ASP005	Asphyxiating Thoracic Dystrophy	44
439	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	43
440	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	43
441	c	PRG001	Progressive Muscular Atrophy	42
442		KSH004	Kashin-Beck Disease	42
443		TRN004	Trench Fever	42
444	c	BRC052	Brachydactyly, Type B2	42
445		FCL041	Focal Myositis	41
446	c	SCL042	Sclerosteosis 2	41
447	c	BRC062	Brachydactyly, Type D	41
448	c	CNG033	Congenital Syphilis	41
449		SLT001	Solitary Osseous Plasmacytoma	40
450	c	SCN006	Secondary Syphilis	39
451	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	39
452	P	PRT042	Parietal Foramina	38
453		GNT001	Giant Cell Reparative Granuloma	38
454	P	ACR062	Acroosteolysis	38
455	c	MYT029	Myotonia Congenita, Autosomal Recessive	38
456	P	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	37
457		EST007	Estrogen Resistance	37
458	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	36
459		OST008	Osteosclerotic Myeloma	36
460	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	36
461	c	SCL045	Sclerosteosis 1	34
462	c	DMN021	Diamond-Blackfan Anemia 6	33
463		WDW001	Widow's Peak	31
464		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
465		RHM008	Rheumatic Myocarditis	30
466	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
467	c	PRT059	Parietal Foramina 1	29
468		ACR095	Acrofacial Dysostosis, Cincinnati Type	29
469	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	29
470	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	28
471	c	FRN049	Frontometaphyseal Dysplasia 1	28
472	c	SMT018	Smith-Mccort Dysplasia 2	27
473	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	27
474		HYP754	Hypophosphatemic Bone Disease	26
475	c	BRC099	Brachydactyly, Type A4	26
476	c	DMN017	Diamond-Blackfan Anemia 10	26
477	c	PRT060	Parietal Foramina 2	26
478	c	LTC001	Late Congenital Syphilis	25
479		LBN004	Liebenberg Syndrome	25
480	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	25
481	c	DMN022	Diamond-Blackfan Anemia 9	25
482	c	DMN040	Diamond-Blackfan Anemia 16	24
483	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	24
484		TRS030	Tarsal Coalition	24
485		ELS005	Elastoma	24
486	c	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	24
487	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	24
488	c	DMN019	Diamond-Blackfan Anemia 4	23
489	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	23
490	c	BRC080	Brachydactyly, Type A1, B	23
491	c	DMN024	Diamond-Blackfan Anemia 7	23
492	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	23
493	c	DMN018	Diamond-Blackfan Anemia 5	23
494	c	BRC108	Brachydactyly, Type A3	23
495	c	BRC075	Brachydactyly, Type A1, C	22
496		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	22
497	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	22
498	c	DMN029	Diamond-Blackfan Anemia 11	22
499	c	DMN006	Diamond-Blackfan Anemia 3	22
500	c	DMN005	Diamond-Blackfan Anemia 2	22
501	c	ERL002	Early Congenital Syphilis	21
502	c	DMN020	Diamond-Blackfan Anemia 8	21
503	c	BRC105	Brachydactyly, Type A1, D	21
504	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
505	c	DMN028	Diamond-Blackfan Anemia 12	20
506	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	20
507		ACH002	Achilles Bursitis	20
508		MZB001	Mazabraud Syndrome	19
509	c	BRC035	Brachydactyly Type A5	19
510		KNN010	Kennerknecht Syndrome	19
511	c	DMN039	Diamond-Blackfan Anemia 17	19
512	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	19
513		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	19
514	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
515	P	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	19
516		HDZ001	Hadziselimovic Syndrome	18
517	c	DMN030	Diamond-Blackfan Anemia 13	18
518	c	SNG012	Singleton-Merten Syndrome 2	18
519		AXN011	Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities	18
520	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	18
521	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	18
522	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	18
523		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	17
524		VLF001	Velofacioskeletal Syndrome	17
525	c	SPN121	Spondylocostal Dysostosis 1	17
526		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
527		IDP069	Idiopathic Avascular Necrosis	17
528	c	MYF010	Myofibromatosis, Infantile, 2	17
529	c	PRT113	Parietal Foramina 3	16
530	P	SPN300	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	16
531	c	DMN045	Diamond-Blackfan Anemia-Like	16
532		PLM145	Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	15
533	c	BLN020	Blount Disease, Infantile	15
534	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	14
535		OST173	Osteoradionecrosis of the Mandible	14
536		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	14
537		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	14
538		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	14
539	c	DMN047	Diamond-Blackfan Anemia 18	14
540		CLB032	Coloboma of Macula and Skeletal Anomalies	14
541		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	14
542		PHL009	Phalangeal Microgeodic Syndrome	14
543		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
544		BLN021	Blount Disease, Adolescent	13
545		EPM003	Epimetaphyseal Skeletal Dysplasia	13
546		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	12
547		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	12
548		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
549		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	12
550	c	DMN049	Diamond-Blackfan Anemia 20	12
551		ISL032	Isolated Bone Marrow Mastocytosis	12
552		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	12
553		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	12
554		THN012	Thanatophoric Dysplasia, Glasgow Variant	11
555		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	11
556	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	11
557	c	BRC037	Brachydactyly Type A7	11
558		BNL001	Bone Leiomyosarcoma	10
559	c	SPN122	Spondylocostal Dysostosis 2	10
560		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	10
561	c	SPN123	Spondylocostal Dysostosis 3	10
562	c	SPN124	Spondylocostal Dysostosis 4	10
563	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	10
564	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	10
565	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	10
566	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
567	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
568	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
569	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	10
570	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
571	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	10
572		NSL024	Nasal Bones, Absence of	10
573		OST162	Osteomalacia, Sclerosing, with Cerebral Calcification	9
574	c	DMN048	Diamond-Blackfan Anemia 19	9
575		OSS016	Ossified Ear Cartilages	9
576	c	CLC009	Clcn7-Related Osteopetrosis	9
577		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	9
578		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	9
579		NRD064	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion	8
580		OST161	Osteoma of Middle Ear	8
581		OST155	Osteomas of Mandible	8
582		ANG057	Angioosteohypotrophic Syndrome	8
583		IDP078	Idiopathic Phalangeal Acro-Osteolysis	7
584		PBC001	Pubic Bone Dysplasia	7
585		BNP003	Bone Pain, Periodic	7
586		EXP005	Expansile Bone Lesions	7
587		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	7
588		INV019	Inverse Klippel-Trénaunay Syndrome	6
589	c	LRP007	Lrp5-Related Primary Osteoporosis	6
590	P	BNS005	Bone Size Quantitative Trait Locus 1	6
591	c	BNS006	Bone Size Quantitative Trait Locus 2	6
592		PRM165	Primary Plasmacytoma of the Bone	6
593		OST166	Osteoma of Cranial Vault, Familial	5
594		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
595		CNT014	Central Nervous System Osteosarcoma	5
596		NRD065	Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	4
597		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	4
598		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
599		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	4
600		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	4
601		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	4
602		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
603		SST002	Sost-Related Sclerosing Bone Dysplasias	3
604		BND005	Bone Dysplasia Azouz Type	3
605		BND008	Bone Dysplasia Moore Type	3
606		BND006	Bone Dysplasia Corpus Callosum Agenesis	3
607		SKL008	Skeletal Dysplasia Orofacial Anomalies	2
608	c	SYS001	Systemic Lupus Erythematosus	88
609		MYL069	Myeloma, Multiple	85
610		PFF001	Pfeiffer Syndrome	79
611	P	SRC025	Sarcoidosis 1	76
612		MRF001	Marfan Syndrome	76
613		BHC003	Behcet Syndrome	75
614		KWS002	Kawasaki Disease	72
615	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	70
616		GRN037	Granulomatosis with Polyangiitis	69
617	P	LPS004	Lupus Erythematosus	69
618	P	AMY004	Amyloidosis	69
619	c	PRM196	Premature Ovarian Failure 1	69
620		SMT004	Smith-Lemli-Opitz Syndrome	69
621	P	ART023	Arthropathy	68
622	P	TMP003	Temporal Arteritis	68
623	P	ECT062	Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	67
624	c	MCP050	Mucopolysaccharidosis, Type Ii	67
625	P	HYD006	Hydrocephalus	66
626	P	GCH001	Gaucher's Disease	66
627		MCC012	Mccune-Albright Syndrome	65
628	c	CNG411	Congenital Disorder of Glycosylation, Type in	65
629	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	65
630	c	MCP049	Mucopolysaccharidosis, Type Vii	65
631	c	GCH015	Gaucher Disease, Type I	65
632		STH001	Saethre-Chotzen Syndrome	64
633	P	SHW006	Shwachman-Diamond Syndrome 1	64
634	P	RHN004	Rhinitis	63
635	P	MCK013	Meckel Syndrome, Type 1	63
636	P	HST010	Histiocytosis	63
637	P	EHL001	Ehlers-Danlos Syndrome	62
638		GT001	Gout	62
639		HNC001	Henoch-Schoenlein Purpura	62
640		KLP010	Klippel-Trenaunay-Weber Syndrome	61
641	P	HRD008	Hereditary Hemorrhagic Telangiectasia	61
642		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	61
643		VSC003	Visceral Leishmaniasis	61
644	P	SJG008	Sjogren Syndrome	60
645	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
646	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
647	P	OCL013	Oculodentodigital Dysplasia	59
648	c	MCL013	Mucolipidosis Iv	59
649	P	SCL018	Scoliosis	59
650	c	CRP023	Carpenter Syndrome 1	59
651	c	GCH016	Gaucher Disease, Type Ii	59
652	P	SPN052	Spondyloarthropathy	58
653		GRN051	Granulomatous Disease, Chronic, X-Linked	58
654	c	MNN047	Mannosidosis, Alpha B, Lysosomal	58
655	P	PLY006	Polydactyly	58
656	P	ANG015	Angioedema	58
657	P	MLT007	Multiple Epiphyseal Dysplasia	58
658	c	HRD002	Hereditary Angioedema	57
659		LCR014	Lacrimoauriculodentodigital Syndrome	57
660	c	ANG068	Angioedema, Hereditary, Type I	57
661		ERD001	Erdheim-Chester Disease	57
662		GDP001	Goodpasture Syndrome	57
663	c	CNG216	Congenital Hydrocephalus	56
664		ASP002	Aspartylglucosaminuria	56
665		ANK001	Ankylosis	56
666	P	HLL001	Hallermann-Streiff Syndrome	56
667	P	CRN108	Cranioectodermal Dysplasia 1	56
668	P	AGG001	Aggressive Periodontitis	56
669		SPN019	Spondylolisthesis	55
670		HRL003	Hurler Syndrome	55
671	c	ANM036	Anemia, Sideroblastic, 1	55
672	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	55
673	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
674		OST024	Osteoporosis-Pseudoglioma Syndrome	55
675		SPN051	Spondylitis	55
676	c	GCH017	Gaucher Disease, Type Iii	55
677	c	FNC042	Fanconi Anemia, Complementation Group D2	54
678		MLT135	Multiple Sulfatase Deficiency	54
679	P	OTS001	Otosclerosis	54
680	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	53
681	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
682	c	PRD039	Periodontitis, Aggressive, 1	53
683		GLC012	Galactosialidosis	52
684	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
685	P	FNC044	Fanconi Anemia, Complementation Group C	52
686		FLT011	Felty Syndrome	52
687		HMF009	Hemifacial Hyperplasia	52
688	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	52
689		DGN001	Degenerative Disc Disease	51
690		SYN005	Synostosis	51
691		PLY112	Polyarteritis Nodosa, Childhood-Onset	51
692		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	51
693		CTY001	Cat Eye Syndrome	51
694	P	VNB005	Van Buchem Disease	51
695	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	50
696	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	50
697		DRG013	Drug-Induced Lupus Erythematosus	50
698	c	ACH041	Achondrogenesis, Type Ii	50
699		HMR002	Hemarthrosis	50
700	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
701		DRM013	Dermoid Cyst	50
702	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	49
703	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	49
704		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
705	c	HRD039	Hereditary Amyloidosis	48
706		ACR058	Acrofacial Dysostosis 1, Nager Type	48
707	c	RBN021	Rubinstein-Taybi Syndrome 1	48
708	c	MLG054	Malignant Histiocytosis	48
709	c	JVN003	Juvenile Xanthogranuloma	48
710	c	NML002	Nemaline Myopathy 1	48
711		DYS018	Dysostosis	48
712	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	47
713	P	CHN059	Chondrocalcinosis	47
714	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	47
715	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	47
716	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	47
717		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	47
718	P	FNG006	Feingold Syndrome 1	47
719		CLB002	Clubfoot	47
720	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	47
721	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	46
722	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
723	c	TRC092	Trichorhinophalangeal Syndrome, Type I	46
724	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	46
725	P	MLT072	Multiple Synostoses Syndrome	46
726	P	RDL002	Radioulnar Synostosis	46
727	c	NML003	Nemaline Myopathy 2	46
728	P	MCL001	Mucolipidosis	46
729		SND002	Sneddon Syndrome	46
730	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
731		SHR098	Short-Rib Thoracic Dysplasia 12	45
732	P	MNN018	Mannosidosis	45
733		VLL003	Villonodular Synovitis	45
734	c	FNC045	Fanconi Anemia, Complementation Group F	44
735		RHM035	Rheumatic Fever-Related Antigen	44
736	c	ACQ012	Acquired Angioedema	44
737	c	FNC032	Fanconi Anemia, Complementation Group B	44
738		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	44
739	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
740		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	43
741		SPN029	Spondylolysis	43
742	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	43
743		EPC002	Epicondylitis	43
744	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
745		CHN053	Chondromyxoid Fibroma	43
746	P	CNG003	Congenital Dyserythropoietic Anemia	42
747		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
748	c	MCK012	Meckel Syndrome, Type 6	42
749	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	42
750	c	FNC023	Fanconi Anemia, Complementation Group N	42
751		SPN331	Spondyloocular Syndrome	42
752		HYL004	Hyaline Fibromatosis Syndrome	42
753	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	41
754	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	41
755	P	ATL001	Atelosteogenesis	41
756	c	FNC028	Fanconi Anemia, Complementation Group L	41
757		MYH012	Myhre Syndrome	41
758	c	MCL016	Mucolipidosis Iii Gamma	41
759	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41
760	c	NML004	Nemaline Myopathy 3	41
761		GNT031	Genitopatellar Syndrome	41
762	c	FNC029	Fanconi Anemia, Complementation Group I	41
763	c	MCK032	Meckel Syndrome, Type 3	41
764	c	HYD064	Hydrocephalus, Congenital, 1	40
765	c	SPL034	Split-Hand/foot Malformation 4	40
766	c	TYP024	Type Ii Mixed Cryoglobulinemia	40
767	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	40
768	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
769		ISL121	Isolated Split Hand-Split Foot Malformation	40
770	c	DSB006	Desbuquois Dysplasia 1	40
771	c	SRC023	Sarcoidosis 2	40
772	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	40
773	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
774		HYD003	Hydrarthrosis	40
775	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	40
776	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	40
777	c	CHR048	Chronic Rhinitis	40
778	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	40
779		HRL004	Hurler-Scheie Syndrome	39
780		PDT035	Pediatric Systemic Lupus Erythematosus	39
781	c	FNC025	Fanconi Anemia, Complementation Group J	39
782	c	VNM003	Van Maldergem Syndrome 1	39
783	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
784		HYP007	Hypermobility Syndrome	39
785		LTT002	Letterer-Siwe Disease	39
786	c	PRM093	Premature Ovarian Failure 7	39
787	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	39
788	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	39
789		ESN017	Eosinophilic Granuloma	39
790	c	SCP001	Sc Phocomelia Syndrome	39
791	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	38
792	c	NML005	Nemaline Myopathy 4	38
793	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	38
794		IDP070	Idiopathic Scoliosis	38
795		SPN036	Spinal Chordoma	38
796	c	SYS043	Systemic Lupus Erythematosus 1	38
797		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	38
798	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
799		DPH019	Diaphanospondylodysostosis	38
800	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	38
801	c	PSD106	Pseudo-Torch Syndrome 1	38
802		SHL001	Shoulder Impingement Syndrome	38
803	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
804	c	MCK031	Meckel Syndrome, Type 2	37
805	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
806	c	ATL011	Atelosteogenesis, Type I	37
807	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	37
808	c	SPL070	Split-Hand/foot Malformation 2	37
809	c	MTC010	Mitochondrial Dna Depletion Syndrome	37
810	c	ATS076	Autosomal Recessive Stickler Syndrome	37
811		PRS037	Periostitis	37
812		MST019	Mastoiditis	37
813	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	36
814	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	36
815	c	MCK033	Meckel Syndrome, Type 4	36
816		FNC030	Fanconi Anemia, Complementation Group G	36
817		MND025	Mandibulofacial Dysostosis with Alopecia	36
818	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	36
819	P	GLP001	Geleophysic Dysplasia	36
820		MYL002	Myelophthisic Anemia	36
821	c	MCK030	Meckel Syndrome, Type 7	36
822	c	SPL033	Split-Hand/foot Malformation 6	36
823	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	36
824	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	36
825	c	FNC048	Fanconi Anemia, Complementation Group O	36
826		OLC001	Olecranon Bursitis	36
827	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
828	c	MCK014	Meckel Syndrome, Type 5	35
829		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	35
830	c	MCP051	Mucopolysaccharidosis, Type Ix	35
831		EPP011	Epiphyseal Chondrodysplasia, Miura Type	35
832	P	CLS054	Classic Ehlers-Danlos Syndrome	35
833		CLV002	Clivus Chordoma	35
834		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	35
835	c	NML006	Nemaline Myopathy 5	35
836		TRM011	Terminal Osseous Dysplasia	35
837	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
838	P	CXV002	Coxa Vara	35
839	P	OMD003	Omodysplasia	35
840	c	ATL015	Atelosteogenesis, Type Ii	35
841	c	SVR040	Severe Congenital Nemaline Myopathy	35
842	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	34
843	P	NNT042	Neonatal Lupus Erythematosus	34
844	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	34
845	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
846		INF159	Infantile Sialic Acid Storage Disease	34
847	c	CHN022	Chondrocalcinosis 2	34
848	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	34
849		CNS013	Constricting Bands, Congenital	34
850	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	33
851	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	33
852		NNT039	Neonatal Marfan Syndrome	33
853	c	FNC052	Fanconi Anemia, Complementation Group T	33
854	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
855	c	GLP003	Geleophysic Dysplasia 1	33
856	c	SPL025	Split-Hand/foot Malformation 5	33
857	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	33
858	c	CNG379	Congenital Disorder of Glycosylation, Type It	33
859	c	FNC047	Fanconi Anemia, Complementation Group Q	33
860	c	CNG195	Congenital Disorder of Glycosylation, Type Id	32
861		BRC004	Brachydactyly-Syndactyly Syndrome	32
862		ANG062	Angioosteohypertrophic Syndrome	32
863		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	32
864	c	SYN084	Synpolydactyly 1	32
865	P	MTP005	Metaphyseal Anadysplasia	32
866		ISL062	Isolated Plagiocephaly	32
867	c	GLP004	Geleophysic Dysplasia 2	32
868		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	32
869	c	ECT058	Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive	31
870		IDP041	Idiopathic Recurrent Pericarditis	31
871	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	31
872	P	ACR106	Acrocephalopolysyndactyly Type Iii	31
873		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	31
874	c	MCK034	Meckel Syndrome, Type 8	31
875	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	31
876	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	31
877	c	INT274	Intermediate Congenital Nemaline Myopathy	31
878		WLD005	Wild Type Attr Amyloidosis	31
879		CHN009	Chondroid Chordoma	31
880	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	31
881	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
882	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	31
883	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	31
884	c	CNG198	Congenital Disorder of Glycosylation, Type Il	31
885	c	OTS005	Otosclerosis 1	30
886	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	30
887		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	30
888		CVR001	Cavernous Sinus Meningioma	30
889	c	CRN109	Cranioectodermal Dysplasia 2	30
890	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
891	c	CNG188	Congenital Disorder of Glycosylation, Type if	30
892		ISL096	Isolated Klippel-Feil Syndrome	30
893	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	30
894		CRN264	Craniosynostosis with Fibular Aplasia	30
895		ALG027	Al-Gazali-Bakalinova Syndrome	30
896	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	30
897		TBR007	Tuberculum Sellae Meningioma	30
898		PTL002	Patellofemoral Pain Syndrome	30
899	c	CNG199	Congenital Disorder of Glycosylation, Type Im	30
900	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	30
901	P	VNM004	Van Maldergem Syndrome	29
902	c	OMD001	Omodysplasia 1	29
903	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	29
904	c	RBN008	Rubinstein-Taybi Syndrome 2	29
905	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	29
906		VND005	Van Den Ende-Gupta Syndrome	29
907		BNG069	Benign Cephalic Histiocytosis	29
908	P	DSB002	Desbuquois Dysplasia	29
909	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	29
910	P	ACR093	Acrofrontofacionasal Dysostosis	29
911	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
912	c	ATL012	Atelosteogenesis, Type Iii	29
913	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
914	c	DSB005	Desbuquois Dysplasia 2	29
915	c	GCH013	Gaucher Disease, Type Iiic	29
916	c	SYM022	Symphalangism, Proximal, 1a	29
917	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	28
918	P	PRD037	Periodontal Ehlers-Danlos Syndrome	28
919	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	28
920		KMM001	Kummell's Disease	28
921		HYP679	Hypoglossia-Hypodactylia	28
922		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	28
923		STL007	Steel Syndrome	28
924	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	28
925	P	SKL005	Skull Base Meningioma	28
926		MLR023	Melorheostosis, Isolated	28
927		HLS001	Heel Spur	28
928	P	TRC031	Trichorhinophalangeal Syndrome	28
929	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
930		PTR002	Petroclival Meningioma	27
931	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
932		HYP682	Hypertelorism, Teebi Type	27
933	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	27
934	c	FRN033	Frontonasal Dysplasia 2	27
935	P	ADL037	Adult Xanthogranuloma	27
936	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	27
937	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	27
938	P	KNN002	Kenny-Caffey Syndrome	27
939	c	JVN047	Juvenile Spondyloarthropathy	27
940	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	27
941		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	27
942		TTR023	Tetraamelia-Multiple Malformations Syndrome	27
943	c	CRP022	Carpenter Syndrome 2	27
944	c	PSD107	Pseudo-Torch Syndrome 2	27
945	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	27
946	c	ANG045	Angioedema, Hereditary, Type Iii	27
947		ASS004	Aase-Smith Syndrome I	26
948	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	26
949	c	OTF003	Otofaciocervical Syndrome 2	26
950	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	26
951	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	26
952	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	26
953		DGT002	Digital Clubbing, Isolated Congenital	26
954		ISL089	Isolated Scaphocephaly	26
955	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	26
956		PRR001	Periarthritis	26
957	c	PRM089	Premature Ovarian Failure 3	26
958	c	THR069	Three M Syndrome 2	26
959	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
960	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	26
961	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
962		ACR017	Acrofacial Dysostosis	26
963	c	CRN110	Cranioectodermal Dysplasia 3	26
964	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
965	c	OMD002	Omodysplasia 2	25
966		SGL002	Sagliker Syndrome	25
967		ORB011	Orbit Rhabdomyosarcoma	25
968		IGG008	Igg4-Related Mesenteritis	25
969	c	ECT072	Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant	25
970	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
971	c	ATS210	Autosomal Recessive Sideroblastic Anemia	25
972	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	25
973	c	ADL068	Adult-Onset Nemaline Myopathy	25
974		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	25
975		ISL061	Isolated Brachycephaly	25
976		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
977	c	FRN032	Frontonasal Dysplasia 3	25
978	c	MCK028	Meckel Syndrome 13	25
979	c	PRM192	Premature Ovarian Failure 8	25
980		LMB069	Lamb-Shaffer Syndrome	25
981		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	25
982		ISL087	Isolated Oxycephaly	25
983	c	FNG009	Feingold Syndrome 2	24
984		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	24
985	c	EHL065	Ehlers-Danlos Syndrome, Type V	24
986		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24
987	c	NML022	Nemaline Myopathy 10	24
988		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	24
989	P	NNT006	Neonatal Myasthenia Gravis	24
990	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
991		EPP010	Epiphysiolysis of the Hip	24
992	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	24
993	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	24
994	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	24
995	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	24
996	c	VNM002	Van Maldergem Syndrome 2	24
997	c	CRN111	Cranioectodermal Dysplasia 4	24
998	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	24
999		CRN266	Craniofacial Dyssynostosis with Short Stature	24
1000	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	24
1001	P	ACR020	Acropectorovertebral Dysplasia	24
1002	c	CNG514	Congenital Radioulnar Synostosis	24
1003		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	24
1004	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	24
1005	c	THR096	Three M Syndrome 3	24
1006	c	MLT060	Multiple Synostoses Syndrome 2	24
1007		GNR023	Generalized Eruptive Histiocytosis	24
1008		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	23
1009	P	FRM004	Foramen Magnum Meningioma	23
1010	c	MCK035	Meckel Syndrome, Type 10	23
1011	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	23
1012		HGH021	Hughes-Stovin Syndrome	23
1013	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	23
1014	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	23
1015		PTL010	Patella Aplasia-Hypoplasia	23
1016		IGG014	Igg4-Related Sclerosing Cholangitis	23
1017	c	DKP001	Dk Phocomelia Syndrome	23
1018	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	23
1019	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	23
1020	c	SYS038	Systemic Lupus Erythematosus 2	23
1021	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	23
1022		DYS134	Dysspondyloenchondromatosis	23
1023	c	NML007	Nemaline Myopathy 6	23
1024	c	SYS069	Systemic Lupus Erythematosus 6	23
1025	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	23
1026	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	23
1027		INF118	Inflammatory Myopathy with Abundant Macrophages	23
1028	c	SHW007	Shwachman-Diamond Syndrome 2	23
1029		CMB064	Combined Oxidative Phosphorylation Deficiency 24	23
1030		FBR091	Fibroblastic Rheumatism	23
1031		INT182	Intermittent Hydrarthrosis	23
1032		WLD006	Wild Type Abeta2m Amyloidosis	22
1033	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	22
1034		PLC002	Plica Syndrome	22
1035		PRG077	Progressive Nodular Histiocytosis	22
1036	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	22
1037	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	22
1038		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
1039	P	PHC014	Phocomelia	22
1040		ULN023	Ulnar Hypoplasia	22
1041		FBR010	Fibrogenesis Imperfecta Ossium	22
1042		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
1043		ACR101	Acrocraniofacial Dysostosis	22
1044		SPH003	Sphenoorbital Meningioma	22
1045		ANG049	Angioedema Induced by Ace Inhibitors	22
1046	P	TRC034	Torch Syndrome	22
1047	c	MCK026	Meckel Syndrome 12	22
1048	c	MLT078	Multiple Synostoses Syndrome 3	22
1049		TRG019	Trigonocephaly with Short Stature and Developmental Delay	22
1050	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	22
1051		RFM002	Roifman-Chitayat Syndrome	22
1052	c	PRM090	Premature Ovarian Failure 6	22
1053	c	ANM034	Anemia, Sideroblastic, 4	22
1054	P	CNG539	Congenital Disorder of Glycosylation with Defective Fucosylation 1	21
1055		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	21
1056	c	TRC073	Treacher Collins Syndrome 2	21
1057		INF009	Inflammatory Spondylopathy	21
1058	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	21
1059	c	PRM254	Premature Ovarian Failure 11	21
1060	c	NNT025	Neonatal Systemic Lupus Erythematosus	21
1061		LMB003	Lumbosacral Lipoma	21
1062	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
1063		MSL005	Mseleni Joint Disease	21
1064		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	21
1065		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	21
1066		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21
1067	c	NML010	Nemaline Myopathy 7	21
1068	P	OVR096	Overlap Myositis	21
1069		CLV012	Clavicle, Pseudarthrosis of, Congenital	21
1070	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	21
1071		TBL006	Tibial Adamantinoma	21
1072		RDL022	Radial Hemimelia	21
1073		CRN200	Craniosynostosis and Dental Anomalies	21
1074	c	SYN088	Synpolydactyly 2	21
1075	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1076	c	XLN229	X-Linked Chondrodysplasia Punctata 2	21
1077	c	CLC055	Cole-Carpenter Syndrome 2	20
1078		PLV015	Pelvis-Shoulder Dysplasia	20
1079		ISL084	Isolated Trigonocephaly	20
1080	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
1081	c	STC012	Stickler Syndrome, Type Iv	20
1082	c	PRM207	Premature Ovarian Failure 10	20
1083	c	EHL090	Ehlers-Danlos Syndrome Type 7b	20
1084	c	NML021	Nemaline Myopathy 9	20
1085		SWN003	Sweeney-Cox Syndrome	20
1086	c	PRM094	Premature Ovarian Failure 5	20
1087		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
1088		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	20
1089	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	20
1090		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	20
1091	c	MCK036	Meckel Syndrome, Type 9	20
1092	c	PRM191	Premature Ovarian Failure 9	20
1093		AFR001	African Histoplasmosis	20
1094		MNS012	Monostotic Fibrous Dysplasia	20
1095	c	STC011	Stickler Syndrome, Type V	19
1096		HMR042	Humero-Ulnar Synostosis	19
1097	c	PRM150	Primary Localized Amyloidosis	19
1098	c	GLP007	Geleophysic Dysplasia 3	19
1099		EHL064	Ehlers-Danlos Syndrome, Arthrochalasis Type	19
1100	c	HYD042	Hydrocephalus, Autosomal Dominant	19
1101		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	19
1102		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
1103		IGG015	Igg4-Related Thyroid Disease	19
1104	c	SYS040	Systemic Lupus Erythematosus 10	19
1105		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	19
1106	c	XLN227	X-Linked Chondrodysplasia Punctata 1	19
1107	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	19
1108		SPC002	Specific Bursitis Often of Occupational Origin	19
1109	P	PRM176	Premature Ovarian Failure 2a	19
1110		MSM018	Mesomelic Limb Shortening and Bowing	19
1111	c	MCK020	Meckel Syndrome, Type 11	19
1112	c	ACR108	Acrocephalopolysyndactyly Type Iv	18
1113	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	18
1114		CRN224	Craniofaciofrontodigital Syndrome	18
1115		CNG284	Congenital Pseudoarthrosis of the Tibia	18
1116	c	PRM253	Premature Ovarian Failure 13	18
1117		HST018	Histiocytosis, Progressive Mucinous	18
1118		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	18
1119		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
1120		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	18
1121		ART136	Arthrogryposis, Distal, with Impaired Proprioception and Touch	18
1122	c	SYS066	Systemic Polyarteritis Nodosa	18
1123		CTN031	Cutaneous Pseudolymphoma	18
1124	c	PRM091	Premature Ovarian Failure 2b	18
1125	c	VNB004	Van Buchem Disease, Type 2	18
1126	c	TRN062	Transient Neonatal Myasthenia Gravis	18
1127		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
1128		PPL038	Papular Xanthoma	18
1129		FMR013	Femoral Agenesis/hypoplasia	18
1130		MMM002	Mammary-Digital-Nail Syndrome	18
1131	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	17
1132		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	17
1133		IGG013	Igg4-Related Pachymeningitis	17
1134	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1135	c	SYM019	Symphalangism, Proximal, 1b	17
1136	c	PRM255	Premature Ovarian Failure 12	17
1137	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	17
1138		SMM003	Summitt Syndrome	17
1139		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	17
1140		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	17
1141	c	MLT166	Multiple Synostoses Syndrome 4	17
1142	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	17
1143	c	SRC024	Sarcoidosis 3	17
1144		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
1145	c	AHM002	Ah Amyloidosis	17
1146		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1147		JNT004	Joint Laxity, Short Stature, and Myopia	16
1148		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1149	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	16
1150		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	16
1151		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	16
1152		BRC114	Brachyolmia Type 1, Hobaek Type	16
1153		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
1154		TTR016	Tetra-Amelia Syndrome	16
1155		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	16
1156	c	STC007	Stickler Syndrome, Type 3	16
1157	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	16
1158	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	16
1159	c	CHN021	Chondrocalcinosis 1	16
1160	c	OTS007	Otosclerosis 3	16
1161	P	ZYG003	Zygodactyly 1	16
1162		RDL031	Radial Aplasia, X-Linked	16
1163		KLL015	Kallmann Syndrome with Spastic Paraplegia	16
1164	c	PRM292	Premature Ovarian Failure 14	16
1165		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
1166		AML053	Amelia, Autosomal Recessive	16
1167		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1168	c	OTS012	Otosclerosis 10	15
1169		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	15
1170	c	CNT108	Central Polydactyly	15
1171	c	SYS041	Systemic Lupus Erythematosus 9	15
1172		CRN192	Craniorhiny	15
1173	c	SYS046	Systemic Lupus Erythematosus 3	15
1174		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	15
1175		IGG011	Igg4-Related Kidney Disease	15
1176		CNS012	Cono-Spondylar Dysplasia	15
1177	c	MTP014	Metaphyseal Anadysplasia 2	15
1178		WHB001	Wahab Syndrome	15
1179	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	15
1180		CHN047	Chondroectodermal Dysplasia with Night Blindness	15
1181	c	PRM295	Premature Ovarian Failure 15	15
1182		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	15
1183		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	15
1184		HYP497	Hyperphalangy	15
1185		HLL014	Hallux Varus and Preaxial Polysyndactyly	15
1186	c	TYP003	Type I Ehlers-Danlos Syndrome	15
1187		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	15
1188		IGG009	Igg4-Related Ophthalmic Disease	14
1189	c	SYS065	Systemic Lupus Erythematosus 11	14
1190		LRS009	Larsen-Like Syndrome, Lethal Type	14
1191		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14
1192	c	SPN226	Spondyloarthropathy 2	14
1193		ISC019	Ischiovertebral Syndrome	14
1194		DPH002	Diaphragma Sellae Meningioma	14
1195		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
1196	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	14
1197		TRP023	Triphalangeal Thumbs and Dislocation of Patella	14
1198	c	SYS053	Systemic Lupus Erythematosus 5	14
1199	P	OTP002	Otopalatodigital Spectrum Disorders	14
1200	c	SYN040	Synpolydactyly 3	14
1201	c	DVL011	Developmental Dysplasia of the Hip 2	14
1202	P	JVN036	Juvenile Sialidosis Type 2	14
1203		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
1204		HRD209	Hereditary Angioedema with Normal C1inh	14
1205	c	OTS010	Otosclerosis 7	14
1206	c	PSD023	Pseudo-Gaucher Disease	14
1207		VRN007	Variant Abeta2m Amyloidosis	14
1208		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14
1209		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	14
1210	c	OTS011	Otosclerosis 8	14
1211	c	SYS055	Systemic Lupus Erythematosus 12	13
1212	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	13
1213	P	MTC014	Mitochondrial Dna Deletion Syndromes	13
1214	c	OTS008	Otosclerosis 4	13
1215	c	SYS051	Systemic Lupus Erythematosus 4	13
1216	c	SYS047	Systemic Lupus Erythematosus 7	13
1217		TRM018	Traumatic Avascular Necrosis	13
1218		CRN204	Craniofacial Conodysplasia	13
1219		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	13
1220		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
1221		ACH028	Acheiria	13
1222	c	ACR046	Acropectorovertebral Dysplasia F Form	13
1223		HND012	Handigodu Joint Disease	13
1224	c	PRM222	Primary Polyarteritis Nodosa	13
1225		CLV003	Clivus Meningioma	12
1226	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
1227		APV001	Aapoaiv Amyloidosis	12
1228		SYM014	Symbrachydactyly of Hands and Feet	12
1229		BCP001	Bicipital Tenosynovitis	12
1230	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
1231		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	12
1232		INT058	Intraorbital Meningioma	12
1233		IGG010	Igg4-Related Aortitis	12
1234		BST002	Baastrup's Syndrome	12
1235		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	12
1236		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	12
1237	c	ACQ036	Acquired Angioedema Type 2	12
1238	c	INF052	Infantile Scoliosis	12
1239		IDP040	Idiopathic Eosinophilic Myositis	11
1240	c	SYS067	Systemic Lupus Erythematosus 15	11
1241	c	SYS052	Systemic Lupus Erythematosus 13	11
1242	c	SYS048	Systemic Lupus Erythematosus 8	11
1243	c	SYS045	Systemic Lupus Erythematosus 14	11
1244	c	SYN050	Syndactyly Type 6	11
1245	c	CNG541	Congenital Disorder of Glycosylation with Defective Fucosylation 2	11
1246	c	OTS006	Otosclerosis 2	11
1247	c	HLL012	Hallermann-Streiff-Like Syndrome	11
1248		PRM233	Primary Cutaneous Plasmacytosis	11
1249		CLV001	Clivus Chondroid Chordoma	11
1250		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1251		PTT005	Pituitary Stalk Meningioma	10
1252	c	SPN256	Spondyloarthropathy 3	10
1253	c	OTS009	Otosclerosis 5	10
1254		9Q3002	9q33.3q34.11 Microdeletion Syndrome	10
1255		ORB001	Orbit Alveolar Rhabdomyosarcoma	10
1256		GLS016	Glossopalatine Ankylosis	10
1257		FBR007	Fibroosseous Pseudotumor of Digits	10
1258		ALC030	Alect2 Amyloidosis	10
1259		HRD208	Hereditary Angioedema with C1inh Deficiency	10
1260		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1261		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1262	c	ZYG007	Zygodactyly Type 3	9
1263	c	ANT021	Anterior Foramen Magnum Meningioma	9
1264		ULN014	Ulnar Hemimelia	9
1265		CNG277	Congenital Pseudoarthrosis of the Fibula	9
1266		SCR036	Sacrum Chordoma	9
1267	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	9
1268	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	9
1269		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1270		CNG279	Congenital Pseudoarthrosis of the Ulna	9
1271		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
1272	c	ZYG006	Zygodactyly Type 2	9
1273	c	ACQ035	Acquired Angioedema Type 1	9
1274		SMP006	Simple Cryoglobulinemia	8
1275		BHC001	Behcet's Syndrome Arthropathy	8
1276	c	TRN008	Transient Arthropathy	8
1277		AML037	Amelia of Upper Limb	8
1278		TBF001	Tibio-Fibular Synostosis	8
1279		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	8
1280		CNG278	Congenital Pseudoarthrosis of the Radius	8
1281		CNG283	Congenital Pseudoarthrosis of the Femur	8
1282		PRN048	Prenatal Benign Hypophosphatasia	8
1283	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1284	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1285	c	SCN055	Secondary Polyarteritis Nodosa	8
1286	c	PST023	Posterior Foramen Magnum Meningioma	8
1287		LWR003	Lower Clivus Meningioma	8
1288		APD003	Apodia	8
1289		UPP001	Upper Clivus Meningioma	8
1290		CHR512	Cheirospondyloenchondromatosis	8
1291		CLC050	Calciphylaxis Cutis	8
1292		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1293		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
1294	c	ZYG005	Zygodactyly Type 4	8
1295		BPR001	Bipartite Talus	8
1296	c	CNG348	Congenital Sialidosis Type 2	7
1297	P	RBN007	Rubinstein Taybi Like Syndrome	7
1298		SPH002	Sphenocavernous Meningioma	7
1299	c	JVN030	Juvenile Overlap Myositis	7
1300	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	7
1301		SNG013	Single-Organ Polyarteritis Nodosa	7
1302		HMR031	Humeral Agenesis/hypoplasia	7
1303		HYP500	Hyperphalangy, Unilateral	7
1304	c	PRD018	Periodontitis, Aggressive, 2	7
1305		RNN007	Reunion Island Larsen-Like Syndrome	7
1306		NNT045	Neonatal Autoimmune Hemolytic Anemia	7
1307	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
1308		CNG289	Congenital Absence/hypoplasia of Thumb	6
1309		CNG287	Congenital Absence of Both Forearm and Hand	6
1310		ACR100	Acrofacial Dysostosis, Patagonia Type	6
1311		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
1312		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
1313		HYP501	Hyperphalangy, Bilateral	6
1314		RDL019	Radio-Ulnar Synostosis, Unilateral	6
1315	c	MLT004	Multiple Skull Base Meningioma	6
1316	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	6
1317		UNS002	Unspecified Juvenile Idiopathic Arthritis	6
1318		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1319		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
1320		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1321		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
1322		HYP010	Hypermobility of Coccyx	6
1323		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
1324		HMR036	Humero-Ulnar Synostosis, Unilateral	6
1325		HMR037	Humero-Ulnar Synostosis, Bilateral	6
1326		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1327		ISL026	Isolated Sternocostoclavicular Hyperostosis	6
1328		RDL020	Radio-Ulnar Synostosis, Bilateral	6
1329		PHL011	Phalanx Chondroma	6
1330		ACQ052	Acquired Angioedema with C1inh Deficiency	6
1331		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	5
1332	c	HYD017	Hydrocephalus Autosomal Recessive	5
1333	c	OTS004	Otosclerosis, Familial	5
1334		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1335	P	SYC001	Say Carpenter Syndrome	5
1336		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1337		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1338		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
1339		GNC002	Gonococcal Bursitis	5
1340		MDL018	Madelung Deformity, Unilateral	5
1341		AML036	Amelia of Lower Limb	5
1342		MDL017	Madelung Deformity, Bilateral	5
1343		TNS002	Tenosynovitis of Foot and Ankle	5
1344		DYS128	Dysplasia of Head of Femur, Meyer Type	5
1345		VSC036	Visceral Calciphylaxis	5
1346		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
1347	c	OCL037	Oculodentodigital Dysplasia Dominant	5
1348		SCN050	Secondary Non-Traumatic Avascular Necrosis	4
1349		LM5001	Lama5-Related Multisystemic Syndrome	4
1350		GNC006	Gonococcal Spondylitis	4
1351		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
1352		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
1353	c	CXV001	Coxa Vara, Congenital	4
1354		MDF001	Midface Dysplasia	3
1355		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	3
1356	P	LGB001	Leg Absence Deformity Cataract	3
1357	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	3
1358		SHW005	Shwachman-Diamond Type Metaphyseal Dysplasia	3
1359	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	45
1360		GRN013	Greenberg Dysplasia	35
1361		CRD221	Cardiospondylocarpofacial Syndrome	39
1362		ODN023	Odontochondrodysplasia	53
1363		BKS003	Beukes Hip Dysplasia	29
1364		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
1365		OST141	Osteoclastic Giant Cell Tumor of Pancreas	15
1366		THM023	Thiemann Disease	23
1367	c	LYS021	Loeys-Dietz Syndrome 3	53
1368		ANT003	Antley-Bixler Syndrome	49
1369		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	35
1370	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	22
1371	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	19
1372	P	THN009	Thanatophoric Dysplasia, Type I	65
1373	P	CMR001	Camurati-Engelmann Disease	62
1374		CMP005	Campomelic Dysplasia	58
1375	P	THR117	Three M Syndrome 1	51
1376	P	PRM018	Primary Hypertrophic Osteoarthropathy	48
1377	P	BLN001	Blount's Disease	42
1378		NST002	Nestor-Guillermo Progeria Syndrome	29
1379		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	28
1380		QZM001	Qazi Markouizos Syndrome	14
1381		NLP001	Nail-Patella Syndrome	54
1382	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	49
1383	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	23
1384		OST150	Osteodysplasia, Familial, Anderson Type	18
1385		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	58
1386		PSD014	Pseudopseudohypoparathyroidism	56
1387		SCH068	Schwartz-Jampel Syndrome, Type 1	54
1388		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	19
1389	P	CLD001	Cleidocranial Dysplasia	63
1390		WVR001	Weaver Syndrome	61
1391		MLT145	Multiple Enchondromatosis, Maffucci Type	51
1392		FLT006	Floating-Harbor Syndrome	45
1393		FRN039	Frank-Ter Haar Syndrome	38
1394		PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	37
1395		WNC001	Winchester Syndrome	35
1396		STY001	Satoyoshi Syndrome	31
1397	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	19
1398		FRB005	Freiberg's Disease	17
1399	c	CLD018	Cleidocranial Dysplasia, Recessive Form	15
1400	c	SPN225	Spondyloarthropathy 1	76
1401		FBR011	Fibrodysplasia Ossificans Progressiva	64
1402		SPH001	Sapho Syndrome	50
1403		YNS002	Yunis-Varon Syndrome	48
1404		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	48
1405		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	44
1406		RHY001	Rhyns Syndrome	33
1407		KYP002	Kyphomelic Dysplasia	27
1408	c	MCP001	Mucopolysaccharidosis Iii	63
1409	c	MCP004	Mucopolysaccharidosis Iv	60
1410		SPN008	Spondyloepiphyseal Dysplasia Congenita	58
1411		PSD012	Pseudoachondroplasia	55
1412	c	MCP043	Mucopolysaccharidosis, Type Iiia	53
1413		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	51
1414		PYL017	Pyle Disease	51
1415		PYC001	Pycnodysostosis	48
1416	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
1417	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	43
1418		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	41
1419		STV003	Stuve-Wiedemann Syndrome	40
1420		LRW001	Leri-Weill Dyschondrosteosis	39
1421	c	OTP006	Otopalatodigital Syndrome, Type I	39
1422	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
1423	c	MCP046	Mucopolysaccharidosis, Type Iiid	31
1424		SCH030	Schneckenbecken Dysplasia	29
1425	c	BRC047	Bruck Syndrome 1	28
1426		GRR002	Gurrieri Syndrome	24
1427		BRC095	Brachydactyly, Mononen Type	18
1428		MGC006	Magic Syndrome	14
1429		BMR003	Beemer Ertbruggen Syndrome	10
1430		CRP001	Carpal Tunnel Syndrome	72
1431	P	HYP035	Hypophosphatasia	58
1432		ALK013	Alkaptonuria	58
1433		ARM001	Aromatase Deficiency	52
1434	P	HRD021	Hereditary Sensory Neuropathy	50
1435		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	46
1436		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	45
1437	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	40
1438		ACR016	Acromesomelic Dysplasia	34
1439		SPN154	Spondyloperipheral Dysplasia	31
1440		MTC018	Metachondromatosis	29
1441	c	SNS009	Sensory Neuropathy Type 1	27
1442	c	NRP036	Neuropathy, Hereditary Sensory, Type if	25
1443	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	23
1444		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	22
1445	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	22
1446	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	20
1447		BNP001	Bone Peripheral Neuroepithelioma	16
1448	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
1449		PNT007	Penttinen-Aula Syndrome	10
1450		WDM002	Wiedemann Oldigs Oppermann Syndrome	6
1451		SRC014	Sarcoma	70
1452		RBR001	Roberts Syndrome	56
1453		SPN041	Spinal Cord Disease	55
1454		CFF003	Caffey Disease	51
1455	c	THN010	Thanatophoric Dysplasia, Type Ii	51
1456		BLL001	Baller-Gerold Syndrome	50
1457	P	RBN002	Robinow Syndrome	46
1458		HYP596	Hypophosphatasia, Childhood	43
1459	c	PSD117	Pseudohypoparathyroidism, Type Ic	41
1460		BRD001	Brody Myopathy	41
1461		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	40
1462	c	ACR044	Acroosteolysis Dominant Type	36
1463		MTT002	Metatropic Dysplasia	35
1464		LTR009	Lateral Meningocele Syndrome	35
1465	P	SNG014	Singleton-Merten Syndrome	31
1466		TRC118	Trichodentoosseous Syndrome	30
1467		SPR031	Sprengel Deformity	29
1468	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	29
1469		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	29
1470		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	27
1471		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	26
1472	c	BRC048	Bruck Syndrome 2	25
1473		SCR025	Scarf Syndrome	24
1474		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	23
1475		GRN016	Grant Syndrome	21
1476		ULN007	Ulna Metaphyseal Dysplasia Syndrome	18
1477		BTT012	Battaglia-Neri Syndrome	8
1478		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
1479		CRZ001	Crouzon Syndrome	70
1480	P	MSC005	Muscular Dystrophy	66
1481	c	MSC165	Muscular Dystrophy, Congenital, Lmna-Related	66
1482	c	MCL062	Mucolipidosis Ii Alpha/beta	65
1483	P	MYP004	Myopathy	65
1484		HLT001	Holt-Oram Syndrome	63
1485	P	CTS001	Cutis Laxa	62
1486		ELL001	Ellis-Van Creveld Syndrome	60
1487	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	60
1488	c	MCL046	Mucolipidosis Iii Alpha/beta	56
1489	c	PSD066	Pseudohypoparathyroidism, Type Ib	54
1490	P	PLG001	Pelger-Huet Anomaly	54
1491	c	MYP132	Myopathy, Congenital	53
1492	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
1493		OCC006	Occipital Horn Syndrome	50
1494	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	49
1495	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	49
1496	c	MSC050	Muscular Dystrophy, Congenital, 1b	48
1497		SYN031	Synovial Chondromatosis	48
1498		CRN005	Craniofrontonasal Syndrome	48
1499	P	LRS001	Larsen Syndrome	47
1500	P	KLP003	Klippel-Feil Syndrome	46
1501		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	46
1502	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	45
1503	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	45
1504	c	LRS002	Larsen-Like Syndrome	42
1505		RHM014	Rheumatoid Vasculitis	42
1506		ACH001	Acheiropody	41
1507	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
1508		PTC001	Potocki-Shaffer Syndrome	39
1509	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	38
1510	c	CNG112	Congenital Muscular Dystrophy Type 1a	38
1511	P	SMT022	Smith-Mccort Dysplasia 1	37
1512	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	37
1513	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	37
1514	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	36
1515		LNG040	Langer Mesomelic Dysplasia	35
1516		CHN057	Chondrodysplasia, Grebe Type	35
1517	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	35
1518		DNT045	Dental Anomalies and Short Stature	35
1519	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	33
1520	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	33
1521	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	31
1522	c	ACQ027	Acquired Cutis Laxa	30
1523	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
1524		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	29
1525		WSM003	Weismann-Netter Syndrome	29
1526	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	29
1527	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	29
1528		BNM005	Bone Marrow Necrosis	28
1529		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	27
1530	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	27
1531		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
1532	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	26
1533	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	26
1534	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	26
1535	c	CTS041	Cutis Laxa, Autosomal Dominant 3	25
1536		DGT005	Digital Arthropathy-Brachydactyly, Familial	25
1537		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	25
1538	c	CMR006	Camurati-Engelmann Disease, Type 2	23
1539		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	23
1540	c	LM2001	Lama2-Related Muscular Dystrophy	22
1541		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	21
1542	c	GNR020	Gne-Related Myopathy	19
1543		FBL014	Fibular Hemimelia	19
1544		SHR023	Short Stature Syndrome, Brussels Type	18
1545	c	LTB003	Ltbp4-Related Cutis Laxa	16
1546	c	CNG441	Congenital Muscular Dystrophy Due to Dystroglycanopathy	16
1547		VND003	Van Den Bosch Syndrome	15
1548	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	15
1549	c	EFM001	Efemp2-Related Cutis Laxa	14
1550		HNT009	Hunter-Mcalpine Syndrome	14
1551	c	PSD024	Pseudo Pelger-Huet Anomaly	11
1552	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	11
1553		VRL015	Verloes Van Maldergem Marneffe Syndrome	10
1554	c	FBL003	Fbln5-Related Cutis Laxa	8
1555	c	BNG038	Benign Autosomal Dominant Myopathy	8
1556		MCH009	Michels Caskey Syndrome	8
1557		RZN001	Rozin Hertz Goodman Syndrome	7
1558		HKF001	Ho Kaufman Mcalister Syndrome	7
1559		RCH003	Richieri Costa Da Silva Syndrome	6
1560		PTT018	Petit-Fryns Syndrome	5
1561	c	HRD010	Hereditary Spastic Paraplegia	69
1562		SCH036	Scheie Syndrome	67
1563	P	THR014	Thrombocytopenia	65
1564	P	KLL001	Kallmann Syndrome	64
1565	P	TRC072	Treacher Collins Syndrome 1	64
1566	c	MCP052	Mucopolysaccharidosis, Type Vi	62
1567	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	61
1568	P	NTR004	Neutropenia	61
1569	P	MLG056	Malignant Hyperthermia	60
1570		SPN060	Spondylocarpotarsal Synostosis Syndrome	60
1571		MNK003	Muenke Syndrome	59
1572	P	PLY041	Polymyositis	59
1573	c	SVR003	Severe Congenital Neutropenia	58
1574		ARS001	Aarskog-Scott Syndrome	57
1575	P	STC001	Stickler Syndrome	56
1576		RLP001	Relapsing Polychondritis	56
1577	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	55
1578	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	55
1579	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	54
1580	P	CNT004	Centronuclear Myopathy	53
1581	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	53
1582	P	ACT010	Acth-Secreting Pituitary Adenoma	52
1583	P	CRN013	Craniodiaphyseal Dysplasia	50
1584	P	FBR025	Fibrochondrogenesis	50
1585		JCK001	Jackson-Weiss Syndrome	50
1586	c	THR071	Thrombocytopenia 1	50
1587	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	49
1588	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	49
1589	P	MYT023	Myotonia Congenita	49
1590		CNN011	Cenani-Lenz Syndactyly Syndrome	49
1591		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	48
1592	P	SCL048	Sclerosteosis	47
1593	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	46
1594		PYM001	Pyomyositis	46
1595		CNT060	Central Serous Chorioretinopathy	45
1596		ACR013	Acrodysostosis	45
1597		MYP100	Myopathy, X-Linked, with Excessive Autophagy	45
1598	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	43
1599	c	MYP123	Myopathy, Centronuclear, 1	42
1600	P	HYP776	Hyperparathyroidism, Neonatal Severe	42
1601	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	41
1602	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	40
1603	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
1604	c	ACQ005	Acquired Thrombocytopenia	40
1605	c	MYP131	Myopathy, Centronuclear, 2	40
1606	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	39
1607		MSS002	Mass Syndrome	39
1608	P	ANX007	Anauxetic Dysplasia 1	39
1609		STP011	Stapes Ankylosis with Broad Thumbs and Toes	39
1610	c	MLG147	Malignant Hyperthermia 1	39
1611	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	39
1612	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	38
1613	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	38
1614	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	38
1615	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	38
1616	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
1617	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	38
1618		MYT030	Myotonia, Potassium-Aggravated	38
1619	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	38
1620	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	38
1621	c	STC015	Stickler Syndrome, Type I	38
1622	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	38
1623	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	37
1624		TRC097	Tracheomalacia	37
1625	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	37
1626	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	37
1627	c	PRM225	Primary Thrombocytopenia	37
1628	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	36
1629	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	36
1630	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	36
1631	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	36
1632	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
1633		DYS048	Dysplasia Epiphysealis Hemimelica	36
1634	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	35
1635		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	35
1636	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	35
1637	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	35
1638	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	35
1639		SPR126	Superior Semicircular Canal Dehiscence	35
1640	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	35
1641		ISC016	Ischiocoxopodopatellar Syndrome	35
1642	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	34
1643	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	34
1644	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
1645	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
1646	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	34
1647	c	THR111	Thrombocytopenia 3	34
1648		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
1649	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	33
1650	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	33
1651	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	33
1652	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	32
1653	c	KNN009	Kenny-Caffey Syndrome, Type 1	32
1654		3MC001	3mc Syndrome 2	31
1655	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	31
1656	c	SPS031	Spastic Paraplegia 23	31
1657	P	SPS012	Spastic Paraplegia 3a	31
1658	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	31
1659	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
1660	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	31
1661		12Q002	12q14 Microdeletion Syndrome	31
1662	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	30
1663	c	STC013	Stickler Syndrome, Type Ii	30
1664	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	30
1665		MSM004	Mesomelia-Synostoses Syndrome	29
1666		VRH001	Verheij Syndrome	29
1667	c	SPS039	Spastic Paraplegia 5a	29
1668	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	29
1669	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	29
1670	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	29
1671	c	SPS092	Spastic Paraplegia 11	28
1672	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	28
1673	c	THR037	Thrombocytopenia 2	28
1674	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	28
1675	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	28
1676	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	28
1677	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	28
1678	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	28
1679	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	28
1680	c	MYH004	Myh9 Related Thrombocytopenia	28
1681	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	28
1682	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	28
1683	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	27
1684	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	27
1685	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	27
1686	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	26
1687	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	26
1688	c	SPS036	Spastic Paraplegia 3	26
1689	c	BRC045	Brachyolmia Type 3	26
1690	c	SPS091	Spastic Paraplegia 4	26
1691	c	SPS021	Spastic Paraplegia 10	26
1692	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	26
1693	c	MYP148	Myopathy, Centronuclear, 5	26
1694	c	HRD186	Hereditary Spastic Paraplegia 51	26
1695		PRS051	Parastremmatic Dwarfism	25
1696	c	SPS025	Spastic Paraplegia 15	25
1697	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	25
1698	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	25
1699	c	THR102	Thrombocytopenia 5	24
1700	c	SPS027	Spastic Paraplegia 17	24
1701		OSB001	Osebold-Remondini Syndrome	23
1702		SHS001	Shashi-Pena Syndrome	23
1703	c	SPS013	Spastic Paraplegia 8	23
1704	c	SPS020	Spastic Paraplegia 1	22
1705	c	MLG148	Malignant Hyperthermia 2	22
1706	c	MLG149	Malignant Hyperthermia 3	22
1707	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	21
1708	c	THR110	Thrombocytopenia 6	21
1709	c	ATP003	Atp6v0a2-Related Cutis Laxa	21
1710	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	21
1711	c	MYP098	Myopathy, Centronuclear, 4	21
1712	P	CLL020	Collagenopathy Type 2 Alpha 1	21
1713	c	SPS037	Spastic Paraplegia 31	21
1714		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
1715	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	21
1716	c	MLG150	Malignant Hyperthermia 4	21
1717	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	20
1718	c	NTR045	Neutropenia, Chronic Familial	20
1719	c	SPS041	Spastic Paraplegia 6	20
1720	c	MLG151	Malignant Hyperthermia 5	20
1721	c	ANX008	Anauxetic Dysplasia 2	19
1722	c	JVN046	Juvenile Polymyositis	19
1723	c	SPS023	Spastic Paraplegia 13	19
1724		BSL042	Basilar Impression, Primary	19
1725		FXL001	Foix-Alajouanine Syndrome	19
1726	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	19
1727	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	19
1728	c	SPS028	Spastic Paraplegia 18	19
1729	c	SPS042	Spastic Paraplegia 9	18
1730	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	18
1731	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	18
1732	c	THR048	Thrombocytopenia 4	18
1733	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	18
1734	c	SPS034	Spastic Paraplegia 26	18
1735		GLP002	Geleophysic Dwarfism	18
1736		RBB001	Ribbing Disease	18
1737	c	SPS032	Spastic Paraplegia 24	18
1738	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	18
1739	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	17
1740	c	SPS029	Spastic Paraplegia 19	17
1741	c	SPS033	Spastic Paraplegia 25	17
1742	c	SPS035	Spastic Paraplegia 29	17
1743	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	17
1744	c	SPS026	Spastic Paraplegia 16	16
1745	c	SPS080	Spastic Paraplegia 51	16
1746	c	SPS161	Spastic Paraplegia 32	16
1747	c	MLG152	Malignant Hyperthermia 6	16
1748	c	HRD188	Hereditary Spastic Paraplegia 72	16
1749	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	16
1750	c	ANK019	Ankrd26-Related Thrombocytopenia	16
1751	c	SPS022	Spastic Paraplegia 12	16
1752		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	16
1753	c	SPS024	Spastic Paraplegia 14	15
1754	c	SPS038	Spastic Paraplegia 39	15
1755		BNK001	Banki Syndrome	14
1756		PRM291	Premature Aging Syndrome, Okamoto Type	14
1757		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	13
1758		DGH001	Doughnut Lesions of Skull, Familial	12
1759	c	SPS040	Spastic Paraplegia 5b	12
1760		VNB002	Van Bogaert-Hozay Syndrome	12
1761	c	SPS230	Spastic Paraplegia Type 49	12
1762	c	SPS165	Spastic Paraplegia 47	11
1763		ANP010	Anaplastic Plasmacytoma	11
1764		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
1765	c	KLL008	Kallmann Syndrome 6	10
1766		SKL024	Skeletal-Extraskeletal Angiomatosis	9
1767		FYP001	Faye-Petersen-Ward-Carey Syndrome	9
1768	c	KLL005	Kallmann Syndrome 3	9
1769		MGR005	Megarbane Syndrome	9
1770	c	KLL006	Kallmann Syndrome 4	9
1771	c	CLL016	Collagenopathy, Types Ii and Xi	8
1772		PNS013	Panostotic Fibrous Dysplasia	8
1773	c	KLL007	Kallmann Syndrome 5	8
1774		CRT006	Cartilage Cancer	7
1775	c	ELN001	Elane-Related Neutropenia	7
1776		CTK001	Cote Katsantoni Syndrome	7
1777		SKL009	Skeletal Dysplasia, San Diego Type	7
1778		PNT008	Pointer Syndrome	6
1779		SLV009	Slavotinek Pike Mills Hurst Syndrome	6
1780		TRC050	Tricho-Dento-Osseous Syndrome 1	6
1781		KZL005	Kozlowski Warren Fisher Syndrome	5
1782		THD001	Theodor Hertz Goodman Syndrome	5
1783		ALS004	Alsing Syndrome	4
1784		VGN025	Vagneur Triolle Ripert Syndrome	4
1785		CHT003	Chitty Hall Webb Syndrome	4
1786		SND004	Sandhaus Ben-Ami Syndrome	4
1787		RGN002	Reginato Shiapachasse Syndrome	3
1788		LCK002	Lockwood Feingold Syndrome	3
1789		SKL010	Skeleto Cardiac Syndrome with Thrombocytopenia	3
1790		OST060	Osteosclerosis Abnormalities of Nervous System and Meninges	3
1791	P	BDY004	Body Mass Index Quantitative Trait Locus 11	74
1792	P	GRF003	Graft-Versus-Host Disease	72
1793		APR006	Apert Syndrome	70
1794		TKY002	Takayasu Arteritis	67
1795	c	CHR417	Chronic Graft Versus Host Disease	67
1796		ADL030	Adult-Onset Still's Disease	66
1797		SPN186	Spinal Cord Injury	66
1798	P	CRN037	Craniosynostosis	66
1799		INC002	Inclusion Body Myositis	64
1800	P	CRN015	Cornelia De Lange Syndrome	64
1801	P	PNC044	Pancreatitis	62
1802		PLS011	Plasmacytoma	62
1803		SPN027	Spinal Stenosis	62
1804	c	PNC108	Pancreatitis, Hereditary	61
1805		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1806	c	ALM001	Al Amyloidosis	60
1807	c	ACT027	Acute Pancreatitis	59
1808	c	FML116	Familial Cold Autoinflammatory Syndrome 1	58
1809	c	RHB024	Rhabdomyosarcoma 2	58
1810		ANT009	Antithrombin Iii Deficiency	58
1811		HYP730	Hypogonadotropic Hypogonadism	58
1812	c	ACT135	Acute Graft Versus Host Disease	58
1813		SMT008	Smith-Magenis Syndrome	58
1814		CHR619	Chromosome 2q35 Duplication Syndrome	58
1815	P	RHB003	Rhabdomyosarcoma	57
1816		MCR088	Microscopic Polyangiitis	57
1817	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	57
1818	c	CRN139	Cornelia De Lange Syndrome 1	56
1819		BLD053	Blood Platelet Disease	56
1820	c	AMY009	Amyloidosis Aa	56
1821		VTM027	Vitamin D-Dependent Rickets, Type 2a	56
1822		GRG001	Greig Cephalopolysyndactyly Syndrome	56
1823	P	STS008	Sotos Syndrome 1	55
1824	c	BLD124	Bleeding Disorder, Platelet-Type, 11	55
1825	c	BRC051	Brachydactyly, Type B1	55
1826	P	SCK004	Seckel Syndrome	54
1827	P	NLD001	Nail Disease	54
1828		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
1829		ESN015	Eosinophilic Fasciitis	53
1830		NSD001	Nose Disease	52
1831		SPN020	Spondylosis	52
1832		DYG001	Dyggve-Melchior-Clausen Disease	50
1833	P	WLL002	Weill-Marchesani Syndrome	50
1834	P	MYP087	Myopathy, Tubular Aggregate, 1	50
1835		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	50
1836		HYP088	Hyper-Igd Syndrome	49
1837	P	PRX021	Proximal Symphalangism	49
1838	c	BRC109	Brachydactyly, Type E1	49
1839	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1840		PLN005	Palindromic Rheumatism	49
1841	P	ANL018	Analbuminemia	48
1842	c	BDY007	Body Mass Index Quantitative Trait Locus 1	48
1843		MCR225	Macrophage Activation Syndrome	48
1844	P	NML001	Nemaline Myopathy	48
1845		ANT039	Antisynthetase Syndrome	48
1846		PLY118	Polyglucosan Body Myopathy 1 with or Without Immunodeficiency	47
1847	c	BRC079	Brachydactyly, Type A2	47
1848		CHN056	Chondrosarcoma, Extraskeletal Myxoid	47
1849	c	BRC081	Brachydactyly, Type C	47
1850		MLT134	Multiple Pterygium Syndrome, Lethal Type	46
1851	c	CTS045	Cutis Laxa, Autosomal Dominant 1	46
1852	P	CPL003	Capillary Leak Syndrome	46
1853	P	SCL057	Scoliosis, Isolated 1	46
1854		PST049	Postaxial Acrofacial Dysostosis	46
1855	c	SYS007	Systemic Capillary Leak Syndrome	46
1856	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	45
1857	c	FNC024	Fanconi Anemia, Complementation Group D1	45
1858	c	SCK009	Seckel Syndrome 1	45
1859	c	MCP047	Mucopolysaccharidosis, Type Iva	45
1860	P	CHN044	Chondrodysplasia Punctata Syndrome	45
1861		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	44
1862		BRS064	Bursitis	44
1863		ENT004	Enthesopathy	44
1864	c	CRN278	Craniosynostosis 1	44
1865		CHN010	Chondroma	43
1866	c	BDY020	Body Mass Index Quantitative Trait Locus 19	43
1867		HRT030	Hartsfield Syndrome	43
1868		ATN011	Autoinflammation with Infantile Enterocolitis	43
1869	c	BDY019	Body Mass Index Quantitative Trait Locus 18	43
1870		HND004	Hand-Foot-Genital Syndrome	43
1871	P	SYN012	Synpolydactyly	42
1872	P	YWS001	Yaws	42
1873	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
1874	P	PLY147	Polydactyly, Postaxial, Type A1	41
1875		IMM082	Immunodeficiency 18	41
1876		CRR002	Currarino Syndrome	41
1877	c	BDY011	Body Mass Index Quantitative Trait Locus 10	41
1878	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	41
1879	c	SPN330	Spondylocostal Dysostosis 5	40
1880		ASK001	Askin's Tumor	40
1881	c	CHL140	Chilblain Lupus 1	40
1882	c	SCK015	Seckel Syndrome 2	40
1883		SYN086	Synostoses, Tarsal, Carpal, and Digital	39
1884		FBL002	Fibular Hypoplasia and Complex Brachydactyly	39
1885	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	39
1886	P	SPL061	Split Hand-Foot Malformation	39
1887		PRM057	Paramyotonia Congenita of Von Eulenburg	39
1888	c	RCR022	Recurrent Acute Pancreatitis	39
1889		PSR016	Psoriatic Juvenile Idiopathic Arthritis	38
1890		LRN006	Laurin-Sandrow Syndrome	38
1891		CPM001	Cap Myopathy	38
1892		MLG141	Malignant Atrophic Papulosis	37
1893		MSC012	Muscular Dystrophy, Duchenne and Becker Type	37
1894		FBR089	Fibrosclerosis, Multifocal	37
1895	P	DVL012	Developmental Dysplasia of the Hip 1	37
1896		RVL002	Ruvalcaba Syndrome	37
1897		LMB008	Limb-Mammary Syndrome	37
1898		XNT009	Xanthoma Disseminatum	37
1899		TRS002	Tarsal-Carpal Coalition Syndrome	37
1900		FML307	Familial Calcium Pyrophosphate Deposition	37
1901		NRG003	Neurogenic Arthropathy	36
1902		TNS014	Tenosynovitis	36
1903		OCH001	Ochronosis	36
1904		CHR581	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb	36
1905	c	SPL024	Split-Hand/foot Malformation 3	36
1906	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
1907		MSN004	Mesenchymal Cell Neoplasm	36
1908	c	SYS061	Systemic Lupus Erythematosus 16	36
1909	P	CRB154	Cerebrocostomandibular Syndrome	35
1910	c	SYN061	Syndactyly, Type Iv	35
1911		ORB012	Orbital Cancer	35
1912	c	FML117	Familial Cold Autoinflammatory Syndrome 2	35
1913	c	DNT021	Dent Disease 2	35
1914		SPN125	Spondyloenchondrodysplasia	35
1915	c	BLD152	Bleeding Disorder, Platelet-Type, 16	34
1916		FMR018	Femoral-Facial Syndrome	34
1917		DSM002	Desmosterolosis	34
1918		SHR108	Short Stature, Idiopathic, X-Linked	34
1919	P	SYN059	Syndactyly, Type V	34
1920		SPL068	Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive	34
1921		WLN001	Welander Distal Myopathy	34
1922	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	34
1923		MYC015	Mycobacterium Fortuitum	34
1924		TTH001	Tooth Ankylosis	33
1925		CTN019	Cutaneous Polyarteritis Nodosa	32
1926		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	32
1927		UND007	Undifferentiated Connective Tissue Disease	32
1928	P	PLY148	Polydactyly, Preaxial Ii	32
1929	c	WLL036	Weill-Marchesani Syndrome 1	32
1930		HMF010	Hemifacial Microsomia with Radial Defects	32
1931		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	31
1932		ENC014	Enchondroma	31
1933		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	31
1934		HMR015	Humeroradial Synostosis	31
1935	c	BLD154	Bleeding Disorder, Platelet-Type, 12	31
1936		EF001	Eaf	30
1937	c	SCK011	Seckel Syndrome 5	30
1938		CLV004	Calvarial Hyperostosis	30
1939		ORB009	Orbit Lymphoma	30
1940	c	WLL037	Weill-Marchesani Syndrome 2	30
1941	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
1942		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	30
1943	c	SCK010	Seckel Syndrome 4	30
1944	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	30
1945		INN003	Iniencephaly	30
1946		KLB005	Kleeblattschaedel	30
1947		MSM016	Mesomelic Dysplasia, Kantaputra Type	29
1948	c	STS007	Sotos Syndrome 2	29
1949		FBR028	Fibrosing Mediastinitis	29
1950	c	BDY005	Body Mass Index Quantitative Trait Locus 9	29
1951	c	BLD156	Bleeding Disorder, Platelet-Type, 14	29
1952		TBL008	Tibial Hemimelia	29
1953		OCL040	Oculomaxillofacial Dysostosis	29
1954		WLD004	Wildervanck Syndrome	29
1955		MTP028	Metaphyseal Dysplasia, Spahr Type	29
1956	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	29
1957		FRN022	Frontofacionasal Dysplasia	28
1958	c	CRN277	Craniosynostosis 2	28
1959	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	28
1960	c	BDY015	Body Mass Index Quantitative Trait Locus 12	28
1961		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	28
1962	c	MLT059	Multiple Synostoses Syndrome 1	28
1963		CHR588	Chromosome 8q22.1 Duplication Syndrome	28
1964	c	BDY010	Body Mass Index Quantitative Trait Locus 4	27
1965	c	BDY006	Body Mass Index Quantitative Trait Locus 8	27
1966	c	BDY012	Body Mass Index Quantitative Trait Locus 7	27
1967	c	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	27
1968		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	27
1969		CRY024	Crystal Arthropathies	27
1970		LKN024	Leukoencephalopathy, Brain Calcifications, and Cysts	27
1971		MDL024	Madelung Deformity	27
1972	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	27
1973		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	27
1974		PST044	Postorgasmic Illness Syndrome	27
1975		ACR099	Acrofacial Dysostosis, Catania Type	27
1976		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	27
1977		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	27
1978	c	INC015	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2	27
1979		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	26
1980		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	26
1981	c	CRN281	Craniosynostosis 7	26
1982	c	SYN060	Syndactyly, Type Iii	26
1983		NCR009	Necrobiotic Xanthogranuloma	26
1984		BJL001	Bejel	26
1985	c	ANM048	Anemia, Congenital Dyserythropoietic, Type Iv	26
1986	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	26
1987		HSH001	Hashimoto-Pritzker Syndrome	26
1988	c	PLY149	Polydactyly, Preaxial Iv	26
1989		HYP648	Hypertension and Brachydactyly Syndrome	26
1990	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	26
1991	P	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	26
1992		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	26
1993	c	CRN134	Cornelia De Lange Syndrome 2	26
1994	c	LYS020	Loeys-Dietz Syndrome 5	26
1995		RMR001	Ramer Ladda Syndrome	25
1996	c	CRN217	Craniosynostosis 3	25
1997