Bone Diseases Category (2779 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	46
2	c	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	45
3	P	PGT001	Paget's Disease of Bone	59
4		OST012	Osteoarthritis	80
5	c	HRD104	Hereditary Multiple Osteochondromas	44
6	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	42
7	P	OST002	Osteoporosis	74
8	P	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	41
9		BRT054	Brittle Bone Disorder	70
10	P	OST001	Osteopetrosis	63
11	c	OST163	Osteopetrosis, Autosomal Recessive 3	52
12	c	OST126	Osteopetrosis, Autosomal Recessive 1	37
13	c	OST120	Osteopetrosis, Autosomal Recessive 5	30
14		CHR288	Chronic Recurrent Multifocal Osteomyelitis	56
15	P	BNC003	Bone Cancer	62
16	P	OST080	Osteogenesis Imperfecta, Type Ii	58
17		FML345	Familial Expansile Osteolysis	45
18		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	30
19		GRC002	Gracile Bone Dysplasia	28
20	c	OST131	Osteopetrosis, Autosomal Dominant 2	55
21		OST159	Osteogenic Sarcoma	66
22	P	RHM011	Rheumatoid Arthritis	81
23		CRT002	Cartilage-Hair Hypoplasia	56
24		WRT006	Worth Type Autosomal Dominant Osteosclerosis	11
25	c	OST135	Osteogenesis Imperfecta, Type I	57
26		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	54
27	c	OST129	Osteopetrosis, Autosomal Recessive 2	46
28	c	OST136	Osteopetrosis, Autosomal Recessive 7	45
29	c	OST134	Osteopetrosis, Autosomal Recessive 6	32
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	39
34	c	FML169	Familial Osteochondritis Dissecans	31
35	c	JVN010	Juvenile Rheumatoid Arthritis	70
36	c	OST119	Osteogenesis Imperfecta, Type Vii	49
37		BSC001	Buschke-Ollendorff Syndrome	53
38		OST044	Osteoglophonic Dysplasia	53
39		ALB001	Albright's Hereditary Osteodystrophy	51
40	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	42
41	c	OST137	Osteopetrosis, Autosomal Recessive 4	29
42	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	46
43		DPH007	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	31
44		KHL001	Kohler's Disease	19
45		LGG001	Legg-Calve-Perthes Disease	62
46		BNG036	Bone Giant Cell Tumor	50
47		BNW001	Bone Ewing's Sarcoma	48
48		GRN013	Greenberg Dysplasia	34
49		HJD001	Hajdu-Cheney Syndrome	62
50		BNT003	Bent Bone Dysplasia Syndrome	41
51		TRC039	Tracheobronchopathia Osteoplastica	18
52		CRT017	Cartilage Disease	53
53	c	OST125	Osteopetrosis, Autosomal Dominant 1	29
54		GRD006	Geroderma Osteodysplastica	22
55	c	OST121	Osteogenesis Imperfecta, Type Iv	49
56	c	OST132	Osteogenesis Imperfecta, Type Vi	41
57		RNS001	Raine Syndrome	52
58		ONC003	Oncogenic Osteomalacia	45
59		SHR106	Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans	27
60	c	PRM243	Primary Bone Cancer	19
61	c	JVN025	Juvenile Primary Osteoporosis	15
62		OST003	Osteonecrosis	67
63		ENC044	Enchondromatosis, Multiple, Ollier Type	54
64		CRP009	Carpotarsal Osteochondromatosis	9
65		BND020	Bone Disease	64
66		OST016	Osteochondrosis	58
67		END081	Endosteal Hyperostosis, Autosomal Dominant	56
68		OSG001	Osgood-Schlatter's Disease	40
69		AXL003	Axial Osteomalacia	32
70	P	SPN400	Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures	21
71		OST022	Osteopathia Striata with Cranial Sclerosis	45
72		SCH072	Scheuermann Disease	40
73		MJD001	Majeed Syndrome	33
74		MLT033	Multicentric Osteolysis Nephropathy	10
75	P	NGT001	Negative Rheumatoid Factor Polyarthritis	8
76		BNM001	Bone Marrow Cancer	60
77	P	CNT056	Cantu Syndrome	50
78		ANR009	Aneurysmal Bone Cysts	48
79	c	EXS019	Exostoses, Multiple, Type I	47
80		OST014	Osteopoikilosis	39
81	c	OST130	Osteogenesis Imperfecta, Type Ix	33
82	c	OST128	Osteogenesis Imperfecta, Type Xii	31
83		MLR010	Melorheostosis with Osteopoikilosis	24
84		DNT050	Dentin Dysplasia with Sclerotic Bones	14
85	c	CNT094	Cantú Syndrome and Related Disorders	5
86	P	OST009	Osteochondritis Dissecans	59
87		ODN023	Odontochondrodysplasia	56
88		OST032	Osteofibrous Dysplasia	52
89	c	OST124	Osteogenesis Imperfecta, Type V	48
90		MNT252	Mental Retardation, Skeletal Dysplasia, and Abducens Palsy	33
91	c	OST118	Osteogenesis Imperfecta, Type Viii	45
92		BNS001	Bone Osteosarcoma	39
93		CYS041	Cystic Angiomatosis of Bone, Diffuse	31
94		KNB002	Kienbock's Disease	30
95	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	29
96	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	26
97	P	BNM015	Bone Mineral Density Quantitative Trait Locus 18	25
98		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	24
99		NVC001	Navicular Bone, Accessory	18
100	c	OST110	Osteogenesis Imperfecta, Type Xv	39
101	c	OST127	Osteogenesis Imperfecta, Type X	33
102	c	OST133	Osteogenesis Imperfecta, Type Xi	32
103	c	OST123	Osteogenesis Imperfecta, Type Xiii	28
104	c	OST139	Osteogenesis Imperfecta, Type Xvi	28
105	c	OST109	Osteogenesis Imperfecta, Type Xiv	24
106		PCM001	Pacman Dysplasia	21
107		BZZ001	Bizzare Parosteal Osteochondromatous Proliferation	16
108		OSS012	Osseous Heteroplasia, Progressive	58
109	c	PSD108	Pseudohypoparathyroidism, Type Ia	56
110	P	CHN012	Chondrosarcoma	56
111	P	PSD015	Pseudohypoparathyroidism	51
112		GNT026	Gnathodiaphyseal Dysplasia	37
113		CDS002	Codas Syndrome	32
114		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	18
115	c	LCL005	Localized Chondrosarcoma	9
116	c	LYS021	Loeys-Dietz Syndrome 3	57
117	P	LYS001	Loeys-Dietz Syndrome	57
118	c	LYS019	Loeys-Dietz Syndrome 1	57
119		RNL011	Renal Osteodystrophy	49
120	c	LYS018	Loeys-Dietz Syndrome 2	44
121		MLN014	Melnick-Needles Syndrome	42
122		GRD005	Geroderma Osteodysplasticum	30
123	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	25
124	c	OST138	Osteogenesis Imperfecta, Type Xvii	24
125		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	23
126		RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	20
127		OSL001	Oslam Syndrome	19
128		OST149	Osteolysis Syndrome, Recessive	19
129		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	16
130		FRN047	Frontonasal Dysplasia with Alar Clefts	15
131		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	15
132		OST013	Osteosarcoma Arising in Bone Paget's Disease	7
133		DST005	Diastrophic Dysplasia	52
134		CHN054	Chondrodysplasia, Blomstrand Type	45
135		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	32
136		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	19
137	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	52
138		ANT003	Antley-Bixler Syndrome	44
139		KTL001	Keutel Syndrome	39
140		BMR001	Boomerang Dysplasia	34
141	c	KNN007	Kenny-Caffey Syndrome, Type 2	29
142	c	BNM010	Bone Marrow Failure Syndrome 1	27
143		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	25
144		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	25
145		OST117	Osteomesopyknosis	21
146		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	15
147		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	13
148		MCC012	Mccune-Albright Syndrome	65
149	P	THN009	Thanatophoric Dysplasia, Type I	64
150	P	CMR001	Camurati-Engelmann Disease	61
151		CMP005	Campomelic Dysplasia	58
152	P	MLT007	Multiple Epiphyseal Dysplasia	56
153		KNS001	Kniest Dysplasia	54
154	P	THR117	Three M Syndrome 1	50
155	c	SCN005	Secondary Hypertrophic Osteoarthropathy	45
156	P	PRM018	Primary Hypertrophic Osteoarthropathy	45
157	P	BLN001	Blount's Disease	41
158		JXT003	Juxtacortical Osteosarcoma	41
159	c	PGT007	Paget Disease of Bone 3	39
160		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	39
161		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	38
162		SLT009	Solitary Bone Cyst	37
163		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	36
164		PRP024	Peripheral Osteosarcoma	34
165	P	INH011	Inherited Bone Marrow Failure Syndromes	34
166	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	31
167		NST002	Nestor-Guillermo Progeria Syndrome	29
168	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
169		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	29
170	c	PGT009	Paget Disease of Bone 2, Early-Onset	28
171		CNV007	Conventional Central Osteosarcoma	27
172		SML003	Small Cell Osteogenic Sarcoma	26
173	c	OST106	Osteopetrosis, Autosomal Recessive 8	25
174		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	16
175		QZM001	Qazi Markouizos Syndrome	15
176		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	14
177		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	14
178	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	12
179		OST034	Osteogenesis Imperfecta Levin Type	10
180		RHM030	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies	9
181		RHM031	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies	9
182		LRY012	Laryngeal Cartilage Cancer	8
183	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	7
184		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	6
185		ACH004	Achondroplasia	68
186		OST017	Osteomyelitis	64
187		NLP001	Nail-Patella Syndrome	54
188		OST011	Osteomalacia	52
189	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	49
190		EXS001	Exostosis	47
191		OST004	Osteitis Fibrosa	45
192	P	CLC057	Cole-Carpenter Syndrome	36
193		OST062	Osteoarthritis with Mild Chondrodysplasia	31
194		TRC115	Tracheopathia Osteoplastica	28
195	c	PGT011	Paget Disease of Bone 6	23
196	c	BNM011	Bone Marrow Failure Syndrome 2	22
197		EKN001	Eiken Syndrome	22
198		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	20
199		SHR027	Short Stature Wormian Bones Dextrocardia	13
200		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	58
201		PSD014	Pseudopseudohypoparathyroidism	55
202		SCH068	Schwartz-Jampel Syndrome, Type 1	54
203		BNN003	Bone Inflammation Disease	48
204		SKL017	Skeletal Dysplasias	46
205		GLC086	Glucocorticoid-Induced Osteoporosis	46
206		MRS004	Marshall-Smith Syndrome	40
207	P	ACH011	Achondrogenesis	40
208	P	BNL002	Bone Lymphoma	32
209		HMM004	Hamamy Syndrome	31
210		SKL001	Skeletal Tuberculosis	31
211	c	PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	26
212		SLW006	Saul-Wilson Syndrome	24
213	c	OST169	Osteogenesis Imperfecta, Type Xviii	24
214		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	23
215		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	21
216		BND017	Bone Dysplasia, Lethal, Holmgren Type	20
217		BRS030	Breast Osteosarcoma	20
218		OST047	Osteopenia and Sparse Hair	19
219	c	PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	17
220		OST058	Osteopoikilosis and Dacryocystitis	16
221		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	15
222		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	14
223		KDN010	Kidney Osteogenic Sarcoma	13
224		CHS003	Chest Wall Bone Cancer	9
225		ADM013	Adamantinoma of Long Bones	63
226	P	CLD001	Cleidocranial Dysplasia	62
227		WVR001	Weaver Syndrome	60
228		BNR002	Bone Resorption Disease	54
229	P	OST028	Osteochondroma	51
230		MLT145	Multiple Enchondromatosis, Maffucci Type	50
231	c	BNM029	Bone Mineral Density Quantitative Trait Locus 15	46
232		FLT006	Floating-Harbor Syndrome	44
233	P	BRC015	Bruck Syndrome	43
234		PRS029	Periosteal Osteogenic Sarcoma	42
235	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	40
236		FBR013	Fibrosarcomatous Osteosarcoma	39
237		CHP002	Chops Syndrome	38
238		FRN039	Frank-Ter Haar Syndrome	37
239	P	EXT032	Extraosseous Osteosarcoma	37
240		PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	36
241		DYS013	Dysbaric Osteonecrosis	36
242		SKL003	Skeletal Muscle Cancer	36
243		RHY001	Rhyns Syndrome	35
244		WNC001	Winchester Syndrome	32
245		CL1004	Col1a1/2-Related Osteogenesis Imperfecta	31
246		STY001	Satoyoshi Syndrome	31
247		BNP002	Bone Epithelioid Hemangioma	27
248		BNG005	Bone Giant Cell Sarcoma	26
249		HGH023	High Bone Mass Osteogenesis Imperfecta	26
250	c	OST170	Osteogenesis Imperfecta, Type Xix	22
251		BNF003	Bone Fragility with Contractures, Arterial Rupture, and Deafness	22
252		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	21
253	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	19
254		FRB005	Freiberg's Disease	16
255	c	CLD018	Cleidocranial Dysplasia, Recessive Form	16
256		OST172	Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits	16
257	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	16
258		PYK001	Pyknoachondrogenesis	15
259		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	15
260		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	15
261		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	15
262		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	15
263		PLY028	Polycystic Bone Disease	14
264	c	ADL034	Adult Extraosseous Osteosarcoma	13
265		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	11
266		BWN005	Bowing of Long Bones Congenital	11
267		CHL007	Childhood Extraosseous Osteosarcoma	10
268	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
269		HPT017	Hepatic Osteogenic Sarcoma	9
270		MDS009	Mediastinal Osteogenic Sarcoma	9
271		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	8
272		MLG006	Malignant Neoplasm of Short Bones of Lower Limb	8
273		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	3
274	c	SPN225	Spondyloarthropathy 1	75
275		FBR011	Fibrodysplasia Ossificans Progressiva	65
276	P	SPN052	Spondyloarthropathy	59
277		HYP068	Hyperostosis	51
278		SPH001	Sapho Syndrome	50
279		BNF002	Bone Fracture	48
280		YNS002	Yunis-Varon Syndrome	47
281		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	47
282		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	45
283	P	ATL001	Atelosteogenesis	41
284		ACR002	Acrocapitofemoral Dysplasia	39
285		OPS002	Opsismodysplasia	37
286	c	ATL011	Atelosteogenesis, Type I	37
287		CZC002	Czech Dysplasia	29
288		MTC018	Metachondromatosis	29
289	c	JVN047	Juvenile Spondyloarthropathy	28
290		KYP002	Kyphomelic Dysplasia	27
291	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	23
292	c	SPN226	Spondyloarthropathy 2	14
293	c	SPN256	Spondyloarthropathy 3	11
294		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	8
295	c	MCP050	Mucopolysaccharidosis, Type Ii	66
296	c	MCP049	Mucopolysaccharidosis, Type Vii	64
297	c	MCP001	Mucopolysaccharidosis Iii	63
298	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	60
299	c	MCP004	Mucopolysaccharidosis Iv	59
300		HYP042	Hypochondroplasia	58
301		SPN008	Spondyloepiphyseal Dysplasia Congenita	57
302		PSD012	Pseudoachondroplasia	54
303	c	MCP043	Mucopolysaccharidosis, Type Iiia	52
304		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	52
305		PYL017	Pyle Disease	51
306		FBR009	Fibrous Dysplasia	49
307		GRN034	Grange Syndrome	47
308		PYC001	Pycnodysostosis	47
309	c	MCP044	Mucopolysaccharidosis, Type Iiib	44
310	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	43
311	c	OTP006	Otopalatodigital Syndrome, Type I	41
312		STV003	Stuve-Wiedemann Syndrome	40
313		OST006	Osteoblastoma	40
314	c	OTP007	Otopalatodigital Syndrome, Type Ii	40
315		LRW001	Leri-Weill Dyschondrosteosis	39
316	c	MCP051	Mucopolysaccharidosis, Type Ix	38
317		RHM036	Rheumatoid Arthritis Interstitial Lung Disease	37
318	c	ATL015	Atelosteogenesis, Type Ii	36
319	c	DNT025	Dentinogenesis Imperfecta 1	35
320	c	MCP045	Mucopolysaccharidosis, Type Iiic	34
321		CHR543	Chromosome 2q37 Deletion Syndrome	34
322	c	MCP046	Mucopolysaccharidosis, Type Iiid	32
323	P	LTH003	Lethal Congenital Contracture Syndrome	31
324		AKL001	Au-Kline Syndrome	31
325	c	EXS020	Exostoses, Multiple, Type Ii	31
326	c	BRC047	Bruck Syndrome 1	30
327		SCH030	Schneckenbecken Dysplasia	28
328	c	LTH039	Lethal Congenital Contracture Syndrome 11	26
329	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
330		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	26
331	c	LTH031	Lethal Congenital Contracture Syndrome 6	25
332	c	LTH042	Lethal Congenital Contracture Syndrome 10	24
333	c	LTH047	Lethal Congenital Contracture Syndrome 3	23
334	c	LTH032	Lethal Congenital Contracture Syndrome 7	23
335		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	23
336		GRR002	Gurrieri Syndrome	23
337	c	LTH029	Lethal Congenital Contracture Syndrome 9	23
338	c	LTH030	Lethal Congenital Contracture Syndrome 8	22
339	c	BNM032	Bone Marrow Failure Syndrome 4	22
340	c	OST171	Osteopetrosis, Autosomal Dominant 3	22
341		STR088	Stratton-Parker Syndrome	22
342	c	ERL004	Early Yaws	20
343	c	LTH026	Lethal Congenital Contracture Syndrome 4	20
344	c	SPN380	Spinal Muscular Atrophy with Congenital Bone Fractures 2	19
345	c	MCP035	Mucopolysaccharidosis Type 2, Severe Form	19
346	c	LTY001	Late Yaws	19
347		BRC095	Brachydactyly, Mononen Type	17
348	c	PLY181	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	15
349	P	OTP002	Otopalatodigital Spectrum Disorders	14
350		MGC006	Magic Syndrome	13
351	c	DNT048	Dentinogenesis Imperfecta Type 3	12
352		BMR003	Beemer Ertbruggen Syndrome	9
353		PNN003	Panner Disease	9
354		LNG027	Long Bones of Lower Limb Cancer	8
355	P	FNC027	Fanconi Anemia, Complementation Group a	81
356	P	HYP035	Hypophosphatasia	57
357		ALK013	Alkaptonuria	57
358		ARM001	Aromatase Deficiency	51
359	P	PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	49
360	c	LYS017	Loeys-Dietz Syndrome 4	48
361	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	46
362		TLN002	Telangiectatic Osteogenic Sarcoma	46
363		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	45
364		MLR003	Melorheostosis	45
365		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	44
366	c	FNC057	Fanconi Anemia, Complementation Group U	44
367	c	FNC046	Fanconi Anemia, Complementation Group P	43
368	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	43
369		MLG014	Malignant Fibrous Histiocytoma of Bone	42
370	c	DSB006	Desbuquois Dysplasia 1	40
371	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	38
372	c	FNC062	Fanconi Anemia, Complementation Group S	38
373		OST097	Osteoporotic Fracture	36
374		CHN003	Chondroblastic Osteosarcoma	35
375		PDT021	Pediatric Osteosarcoma	35
376		SKL002	Skeletal Muscle Neoplasm	35
377	c	FNC058	Fanconi Anemia, Complementation Group R	35
378		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	35
379		FBR002	Fibrosarcoma of Bone	34
380	c	FNC056	Fanconi Anemia, Complementation Group V	33
381		BNR001	Bone Remodeling Disease	32
382	P	DSB002	Desbuquois Dysplasia	30
383		SPN154	Spondyloperipheral Dysplasia	30
384		LCL004	Localized Osteosarcoma	29
385	c	BNM013	Bone Marrow Failure Syndrome 3	25
386	P	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	24
387	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	24
388	c	CLC056	Cole-Carpenter Syndrome 1	23
389	c	FNC061	Fanconi Anemia, Complementation Group W	23
390		ACR016	Acromesomelic Dysplasia	23
391	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	21
392	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	21
393	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	21
394	P	MLT017	Multifocal Osteogenic Sarcoma	20
395	c	PRM151	Primary Bone Lymphoma	20
396		CLV014	Calvarial Doughnut Lesions with Bone Fragility	20
397		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	19
398	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	19
399		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	19
400		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	18
401	c	PGT006	Paget Disease of Bone 4	18
402		BMR004	Beemer Lethal Malformation Syndrome	17
403		LSS034	Lissencephaly Type Iii and Bone Dysplasia	17
404		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	17
405	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	16
406		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	15
407		LPS001	Liposarcoma of Bone	14
408		INT073	Intracortical Osteogenic Sarcoma	14
409		SYN002	Synchronous Multifocal Osteogenic Sarcoma	13
410		CNG530	Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	13
411	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	12
412		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	12
413		DST098	Distal Osteosclerosis	11
414		PNT007	Penttinen-Aula Syndrome	10
415		SHR094	Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	10
416		BNN002	Bone Angioendothelial Sarcoma	10
417		OST156	Osteosclerosis with Ichthyosis and Fractures	9
418		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	9
419		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	8
420		CHL041	Childhood Intracortical Osteosarcoma	7
421		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	7
422		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	6
423	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	6
424		CHL001	Childhood Parosteal Osteogenic Sarcoma	6
425		WDM002	Wiedemann Oldigs Oppermann Syndrome	6
426		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	5
427		MTC001	Metachronous Osteosarcoma of the Bone	5
428		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	5
429		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	5
430		CTR016	Cataract Skeletal Anomalies	3
431		HYD022	Hydrocephalus Skeletal Anomalies	3
432		OCL029	Oculo Skeletal Renal Syndrome	3
433		BRT025	Brittle Bone Syndrome Lethal Type	3
434		GGN003	Gigantism Advanced Bone Age Hoarse Cry	3
435		CRN080	Craniofacial and Skeletal Defects	3
436		CRP008	Carpo Tarsal Osteolysis Recessive	3
437		DWR010	Dwarfism Thin Bones Multiple Fractures	3
438		DWR006	Dwarfism Lethal Type Advanced Bone Age	3
439	c	PST038	Positive Rheumatoid Factor Polyarthritis	3
440		CTS007	Cutis Laxa Osteoporosis	3
441		PRR012	Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	2
442		TBB002	Tibiae Bowed Radial Anomalies Osteopenia Fracture	2
443	c	HYP798	Hypophosphatemic Rickets, X-Linked Recessive	61
444		RBR001	Roberts Syndrome	55
445	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	52
446		CFF003	Caffey Disease	51
447	P	VNB005	Van Buchem Disease	50
448	c	THN010	Thanatophoric Dysplasia, Type Ii	50
449		BLL001	Baller-Gerold Syndrome	50
450	P	INF049	Infantile Myofibromatosis	50
451	P	RBN002	Robinow Syndrome	47
452	c	ACH033	Achondrogenesis, Type Ia	45
453	P	HRD001	Hereditary Multiple Exostoses	45
454	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	45
455		BRD001	Brody Myopathy	45
456	c	TRC092	Trichorhinophalangeal Syndrome, Type I	44
457	c	ATS082	Autosomal Dominant Robinow Syndrome	43
458		HYP596	Hypophosphatasia, Childhood	43
459		CHN004	Chondroblastoma	41
460	P	OTS002	Otospondylomegaepiphyseal Dysplasia	41
461	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	41
462	c	PSD117	Pseudohypoparathyroidism, Type Ic	40
463	c	MYF007	Myofibromatosis, Infantile, 1	40
464	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
465		OST115	Osteonecrosis of the Jaw	38
466	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	37
467		END059	Endocrine-Cerebroosteodysplasia	36
468		LTR009	Lateral Meningocele Syndrome	35
469		MTT002	Metatropic Dysplasia	35
470		TRC118	Trichodentoosseous Syndrome	31
471		OST160	Osteoid Osteoma	31
472	P	SNG014	Singleton-Merten Syndrome	31
473	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	30
474		BND014	Bone Development Disease	30
475		CPL004	Caplan's Syndrome	29
476	P	BRC003	Brachyolmia	29
477		DYS045	Dysosteosclerosis	29
478	c	ACR044	Acroosteolysis Dominant Type	29
479		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	29
480		SPR031	Sprengel Deformity	28
481		BNS002	Bone Structure Disease	26
482	c	BRC048	Bruck Syndrome 2	25
483		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	25
484		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	24
485		SCR025	Scarf Syndrome	24
486		PTR001	Petrositis	24
487	P	TRC031	Trichorhinophalangeal Syndrome	23
488	c	FBR029	Fibrochondrogenesis 1	22
489	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	21
490		OST168	Osteosclerotic Metaphyseal Dysplasia	21
491		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	20
492	c	XLN229	X-Linked Chondrodysplasia Punctata 2	20
493		SHR114	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies	20
494		GRN016	Grant Syndrome	20
495	c	HYP831	Hyperparathyroidism, Transient Neonatal	20
496	c	VNB004	Van Buchem Disease, Type 2	19
497	c	BRC053	Brachyolmia Type 2	19
498	c	BNM033	Bone Marrow Failure Syndrome 5	19
499	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	19
500		SKL011	Skeletal Defects, Genital Hypoplasia, and Mental Retardation	19
501	c	SPN121	Spondylocostal Dysostosis 1	18
502	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	17
503		ULN007	Ulna Metaphyseal Dysplasia Syndrome	16
504	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	16
505		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	15
506	c	SPN122	Spondylocostal Dysostosis 2	13
507	c	RR2001	Ror2-Related Robinow Syndrome	13
508	c	SPN123	Spondylocostal Dysostosis 3	12
509	c	SPN124	Spondylocostal Dysostosis 4	11
510		CHR633	Choroidal Osteoma, Bilateral	10
511		BTT012	Battaglia-Neri Syndrome	8
512		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
513	P	ART022	Arthritis	77
514		CRZ001	Crouzon Syndrome	70
515		CNN005	Connective Tissue Disease	67
516	P	MYP004	Myopathy	64
517	c	MCL062	Mucolipidosis Ii Alpha/beta	64
518		HLT001	Holt-Oram Syndrome	61
519		ELL001	Ellis-Van Creveld Syndrome	60
520	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	59
521	c	MCL013	Mucolipidosis Iv	58
522	c	MCL046	Mucolipidosis Iii Alpha/beta	56
523	c	PSD066	Pseudohypoparathyroidism, Type Ib	53
524	c	MYP132	Myopathy, Congenital	52
525	P	PLG001	Pelger-Huet Anomaly	52
526		OCC006	Occipital Horn Syndrome	51
527	P	HMC002	Homocystinuria	51
528		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	49
529		HYP017	Hypophosphatemia	49
530	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	48
531	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	48
532	P	CHN059	Chondrocalcinosis	48
533		SYN031	Synovial Chondromatosis	48
534	P	LRS001	Larsen Syndrome	47
535		CRN005	Craniofrontonasal Syndrome	47
536	P	KLP003	Klippel-Feil Syndrome	46
537	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
538	P	OSS001	Ossifying Fibroma	46
539	P	MCL001	Mucolipidosis	45
540	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	45
541	P	FRN012	Frontometaphyseal Dysplasia	44
542	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	44
543	P	CNG003	Congenital Dyserythropoietic Anemia	42
544	c	MCL016	Mucolipidosis Iii Gamma	42
545	c	LRS002	Larsen-Like Syndrome	41
546		MCP033	Mucopolysaccharidoses	41
547		PTL009	Patella, Chondromalacia of	41
548	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	41
549		ACH001	Acheiropody	41
550		HYP041	Hypochondrogenesis	40
551		CRN049	Craniolenticulosutural Dysplasia	39
552	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	38
553	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	38
554		DNT045	Dental Anomalies and Short Stature	37
555	P	SMT022	Smith-Mccort Dysplasia 1	37
556		PTC001	Potocki-Shaffer Syndrome	37
557	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	37
558	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	37
559	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	37
560		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	37
561	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	37
562		CHN057	Chondrodysplasia, Grebe Type	36
563		LNG040	Langer Mesomelic Dysplasia	35
564		RHM013	Rheumatoid Nodulosis	35
565	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	34
566		BNS004	Bone Squamous Cell Carcinoma	34
567	c	TRN014	Transient Arthritis	33
568		CHN070	Cohen-Gibson Syndrome	30
569		ISC005	Ischemic Bone Disease	30
570		HYP674	Hyperostosis Cranialis Interna	30
571	c	FRN048	Frontometaphyseal Dysplasia 2	30
572	c	ANM037	Anemia, Congenital Dyserythropoietic, Type Iii	30
573	c	ATL012	Atelosteogenesis, Type Iii	29
574		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	29
575	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	29
576		WSM003	Weismann-Netter Syndrome	28
577	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	28
578		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	28
579	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	28
580		BND004	Bone Deterioration Disease	28
581	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	28
582		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	28
583	c	SNG011	Singleton-Merten Syndrome 1	27
584		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	27
585	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	27
586	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	27
587		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	27
588		CLB033	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness	25
589	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	24
590	c	CMR006	Camurati-Engelmann Disease, Type 2	23
591		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	23
592		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	22
593		BNB001	Bone Benign Neoplasm	22
594		SPC025	Specific Granule Deficiency 2	22
595		CRN272	Craniometadiaphyseal Dysplasia	22
596		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	22
597		BNC005	Bone Chondrosarcoma	21
598		PRT108	Puerto Rican Infant Hypotonia Syndrome	21
599	c	FBR030	Fibrochondrogenesis 2	19
600	c	GNR020	Gne-Related Myopathy	19
601		FBL014	Fibular Hemimelia	19
602	c	JVN045	Juvenile Ossifying Fibroma	17
603		SHR023	Short Stature Syndrome, Brussels Type	17
604	c	CHN021	Chondrocalcinosis 1	16
605		VND003	Van Den Bosch Syndrome	16
606	P	SPN127	Spondyloepimetaphyseal Dysplasia Joint Laxity	15
607	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	15
608	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	14
609		SHR119	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	14
610	c	PSD024	Pseudo Pelger-Huet Anomaly	14
611		HNT009	Hunter-Mcalpine Syndrome	13
612	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	11
613	c	MYP129	Myopathy Due to Malate-Aspartate Shuttle Defect	11
614		ORB004	Orbital Osteomyelitis	11
615		SND010	Sinding-Larsen-Johansson Disease	10
616		VRL015	Verloes Van Maldergem Marneffe Syndrome	9
617	c	BNG038	Benign Autosomal Dominant Myopathy	9
618		MCH009	Michels Caskey Syndrome	8
619		RZN001	Rozin Hertz Goodman Syndrome	8
620		RCH003	Richieri Costa Da Silva Syndrome	7
621		BNM012	Bone Ameloblastoma	6
622		HKF001	Ho Kaufman Mcalister Syndrome	6
623		PTT018	Petit-Fryns Syndrome	5
624	c	HMC017	Homocystinuria Due to Defect in Methylation Cbl E	4
625	c	HMC018	Homocystinuria Due to Defect in Methylation Cbl G	4
626	P	DMN001	Diamond-Blackfan Anemia	70
627	c	HRD010	Hereditary Spastic Paraplegia	68
628		SCH036	Scheie Syndrome	67
629	P	DYS007	Dyskeratosis Congenita	67
630	P	KLL001	Kallmann Syndrome	63
631	P	TRC072	Treacher Collins Syndrome 1	63
632	c	MCP052	Mucopolysaccharidosis, Type Vi	61
633	P	NTR004	Neutropenia	60
634	P	MLG056	Malignant Hyperthermia	60
635		SPN060	Spondylocarpotarsal Synostosis Syndrome	59
636		MNK003	Muenke Syndrome	59
637	P	SYP003	Syphilis	58
638	P	CTS001	Cutis Laxa	58
639	P	PLY041	Polymyositis	58
640	c	SVR003	Severe Congenital Neutropenia	58
641	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	56
642	P	STC001	Stickler Syndrome	56
643		ARS001	Aarskog-Scott Syndrome	56
644	P	MSC003	Muscular Atrophy	56
645	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	55
646		RLP001	Relapsing Polychondritis	55
647	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	54
648	c	BRC078	Brachydactyly, Type A1	54
649	c	HYP293	Hypophosphatasia, Adult	54
650		AGN012	Agnathia-Otocephaly Complex	53
651	c	DMN023	Diamond-Blackfan Anemia 1	53
652	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	53
653	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	53
654	P	CNT004	Centronuclear Myopathy	52
655	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	51
656		CNN011	Cenani-Lenz Syndactyly Syndrome	51
657		JCK001	Jackson-Weiss Syndrome	51
658	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	50
659	P	BRC006	Brachydactyly	50
660	P	CRN013	Craniodiaphyseal Dysplasia	50
661	c	HYP292	Hypophosphatasia, Infantile	50
662	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	50
663	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	50
664	c	ATS393	Autosomal Recessive Cutis Laxa Type I	50
665	P	FBR025	Fibrochondrogenesis	49
666	c	RBN009	Robinow Syndrome, Autosomal Recessive	49
667	P	MYT023	Myotonia Congenita	49
668	P	SCL048	Sclerosteosis	48
669	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	48
670		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	48
671	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	47
672	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	47
673	c	ACH042	Achondrogenesis, Type Ib	47
674		ACR013	Acrodysostosis	47
675	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	46
676	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
677	c	PRM022	Primary Syphilis	45
678	P	HRD086	Hereditary Hypophosphatemic Rickets	45
679		PYM001	Pyomyositis	45
680		MYP100	Myopathy, X-Linked, with Excessive Autophagy	45
681	c	BRC060	Brachydactyly, Type E2	45
682	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	44
683		ASP005	Asphyxiating Thoracic Dystrophy	44
684		CNT060	Central Serous Chorioretinopathy	44
685	c	SCL042	Sclerosteosis 2	44
686	c	BRC052	Brachydactyly, Type B2	44
687		SLT001	Solitary Osseous Plasmacytoma	44
688	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	44
689		KSH004	Kashin-Beck Disease	43
690	c	PRG001	Progressive Muscular Atrophy	43
691	c	MYP123	Myopathy, Centronuclear, 1	43
692	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	42
693	c	BRC062	Brachydactyly, Type D	42
694	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	42
695	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	42
696	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
697	c	ATS239	Autosomal Recessive Hypophosphatemic Rickets	42
698	P	HYP776	Hyperparathyroidism, Neonatal Severe	42
699		TRN004	Trench Fever	42
700		FCL041	Focal Myositis	42
701	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	41
702	c	SPS098	Spastic Paraplegia 30, Autosomal Recessive	41
703	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	41
704	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	41
705	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	41
706	c	MLG147	Malignant Hyperthermia 1	41
707		MYT030	Myotonia, Potassium-Aggravated	41
708	P	ANX007	Anauxetic Dysplasia 1	41
709	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	41
710	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	40
711	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	40
712	c	CNG033	Congenital Syphilis	40
713	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	40
714	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	40
715	P	PRT042	Parietal Foramina	40
716	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	40
717	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	40
718	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	40
719	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	39
720	c	MYT029	Myotonia Congenita, Autosomal Recessive	39
721	c	STC015	Stickler Syndrome, Type I	39
722	c	SCN006	Secondary Syphilis	39
723	c	MYP131	Myopathy, Centronuclear, 2	39
724	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	39
725	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	39
726		GNT001	Giant Cell Reparative Granuloma	39
727	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	38
728		MSS002	Mass Syndrome	38
729	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	38
730	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	38
731	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	38
732	P	ACR062	Acroosteolysis	38
733	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	38
734	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
735	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	37
736	P	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	37
737	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	37
738	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	37
739	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	37
740		OST008	Osteosclerotic Myeloma	37
741	c	SCL045	Sclerosteosis 1	36
742	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	36
743		EST007	Estrogen Resistance	36
744	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	36
745		DYS048	Dysplasia Epiphysealis Hemimelica	36
746		ISC016	Ischiocoxopodopatellar Syndrome	36
747	c	ATS076	Autosomal Recessive Stickler Syndrome	36
748	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	36
749	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	36
750		SPR126	Superior Semicircular Canal Dehiscence	36
751	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	36
752	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	35
753		SPN360	Spondylometaphyseal Dysplasia, Corner Fracture Type	35
754	P	SPS012	Spastic Paraplegia 3a	35
755	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	35
756	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	35
757	P	OMD003	Omodysplasia	34
758	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	34
759		TRC097	Tracheomalacia	34
760	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	34
761	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	34
762	c	CTS023	Cutis Laxa, Autosomal Recessive, Type Iib	34
763	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	34
764	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	33
765		VRH001	Verheij Syndrome	33
766	c	DMN021	Diamond-Blackfan Anemia 6	33
767	c	SPS039	Spastic Paraplegia 5a	33
768	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	33
769		ULN017	Ulna and Fibula, Absence of, with Severe Limb Deficiency	33
770	c	KNN009	Kenny-Caffey Syndrome, Type 1	33
771	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
772	c	SPS036	Spastic Paraplegia 3	33
773	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	32
774	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	32
775	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	32
776	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	32
777	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	31
778	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	31
779	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	31
780		RHM008	Rheumatic Myocarditis	31
781		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	31
782	c	SPS091	Spastic Paraplegia 4	31
783	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	31
784	c	ACQ027	Acquired Cutis Laxa	31
785	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	31
786	c	SPS021	Spastic Paraplegia 10	30
787	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	30
788	c	PRT059	Parietal Foramina 1	30
789	c	STC013	Stickler Syndrome, Type Ii	30
790	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
791	c	CTS031	Cutis Laxa, Autosomal Dominant 2	29
792	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	29
793	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	29
794	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	29
795		12Q002	12q14 Microdeletion Syndrome	29
796	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	29
797	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
798	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
799	c	SPS092	Spastic Paraplegia 11	29
800	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	29
801	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	29
802	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	29
803	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	29
804	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	29
805		ACR095	Acrofacial Dysostosis, Cincinnati Type	29
806	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	28
807	c	SPS025	Spastic Paraplegia 15	28
808	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	28
809		WDW001	Widow's Peak	28
810	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	28
811	c	DMN017	Diamond-Blackfan Anemia 10	28
812	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	28
813	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	28
814	c	HRD186	Hereditary Spastic Paraplegia 51	28
815	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	28
816		MSM004	Mesomelia-Synostoses Syndrome	27
817	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	27
818	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	27
819	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	27
820	c	SMT018	Smith-Mccort Dysplasia 2	27
821	c	LTC001	Late Congenital Syphilis	27
822	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
823	c	CTS041	Cutis Laxa, Autosomal Dominant 3	27
824	c	SPS027	Spastic Paraplegia 17	27
825	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	27
826	c	FRN049	Frontometaphyseal Dysplasia 1	27
827		HYP754	Hypophosphatemic Bone Disease	26
828	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	26
829	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	26
830		PRS051	Parastremmatic Dwarfism	26
831	c	DMN022	Diamond-Blackfan Anemia 9	26
832	c	BRC045	Brachyolmia Type 3	26
833	c	PRT060	Parietal Foramina 2	26
834	c	SVR012	Severe Congenital Neutropenia Autosomal Dominant	26
835	c	BRC099	Brachydactyly, Type A4	25
836	c	SPS013	Spastic Paraplegia 8	25
837	c	DMN019	Diamond-Blackfan Anemia 4	25
838	c	OMD002	Omodysplasia 2	25
839	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
840	c	SPS020	Spastic Paraplegia 1	25
841	c	SPS041	Spastic Paraplegia 6	25
842	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	25
843		LBN004	Liebenberg Syndrome	24
844		TRS030	Tarsal Coalition	24
845		ELS005	Elastoma	24
846	c	DMN040	Diamond-Blackfan Anemia 16	24
847	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	24
848	c	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	24
849	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	24
850	c	DMN024	Diamond-Blackfan Anemia 7	24
851	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	24
852	c	SPS023	Spastic Paraplegia 13	24
853	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	24
854	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	23
855	c	SPS042	Spastic Paraplegia 9	23
856		SHS001	Shashi-Pena Syndrome	23
857	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	23
858	c	DMN006	Diamond-Blackfan Anemia 3	23
859	c	DMN020	Diamond-Blackfan Anemia 8	23
860	c	DMN005	Diamond-Blackfan Anemia 2	22
861	c	DMN018	Diamond-Blackfan Anemia 5	22
862	c	SPS037	Spastic Paraplegia 31	22
863	c	BRC080	Brachydactyly, Type A1, B	22
864	c	BRC075	Brachydactyly, Type A1, C	22
865	P	CLL020	Collagenopathy Type 2 Alpha 1	22
866		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	22
867		OSB001	Osebold-Remondini Syndrome	22
868	c	BRC108	Brachydactyly, Type A3	22
869	c	MYP098	Myopathy, Centronuclear, 4	22
870	c	SPS028	Spastic Paraplegia 18	22
871	c	MLG151	Malignant Hyperthermia 5	22
872	c	DMN029	Diamond-Blackfan Anemia 11	22
873	c	MYP148	Myopathy, Centronuclear, 5	22
874	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	22
875	c	MLG148	Malignant Hyperthermia 2	22
876	c	SPS034	Spastic Paraplegia 26	22
877	c	ATP003	Atp6v0a2-Related Cutis Laxa	22
878	c	ERL002	Early Congenital Syphilis	22
879	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	21
880	c	MLG149	Malignant Hyperthermia 3	21
881	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	21
882	c	BRC105	Brachydactyly, Type A1, D	21
883	c	ANX008	Anauxetic Dysplasia 2	21
884	c	MLG150	Malignant Hyperthermia 4	21
885		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
886	c	SPS022	Spastic Paraplegia 12	20
887	c	STC011	Stickler Syndrome, Type V	20
888	c	NTR045	Neutropenia, Chronic Familial	20
889	c	DMN028	Diamond-Blackfan Anemia 12	20
890	c	DMN039	Diamond-Blackfan Anemia 17	20
891	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	20
892	c	SPS032	Spastic Paraplegia 24	20
893	c	HRD210	Hereditary Spastic Paraplegia 23	20
894		ACH002	Achilles Bursitis	20
895	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	20
896	c	JVN046	Juvenile Polymyositis	20
897	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	20
898	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	20
899	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	20
900	c	SPS029	Spastic Paraplegia 19	20
901	c	SNG012	Singleton-Merten Syndrome 2	19
902	c	DMN030	Diamond-Blackfan Anemia 13	19
903	c	STC012	Stickler Syndrome, Type Iv	19
904	c	STC007	Stickler Syndrome, Type 3	19
905	c	SPS033	Spastic Paraplegia 25	19
906	c	SPS035	Spastic Paraplegia 29	19
907	c	SPS038	Spastic Paraplegia 39	19
908		BSL042	Basilar Impression, Primary	19
909	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	19
910	c	SPS080	Spastic Paraplegia 51	19
911	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	19
912		IDP069	Idiopathic Avascular Necrosis	18
913	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	18
914	c	SPS026	Spastic Paraplegia 16	18
915		KNN010	Kennerknecht Syndrome	18
916		MZB001	Mazabraud Syndrome	18
917	c	SPS161	Spastic Paraplegia 32	18
918	c	BRC035	Brachydactyly Type A5	18
919		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	18
920		GLP002	Geleophysic Dwarfism	18
921	c	HRD188	Hereditary Spastic Paraplegia 72	18
922		AXN011	Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities	18
923	c	EFM001	Efemp2-Related Cutis Laxa	18
924		RBB001	Ribbing Disease	18
925		HDZ001	Hadziselimovic Syndrome	18
926	c	DMN047	Diamond-Blackfan Anemia 18	18
927	c	MYF010	Myofibromatosis, Infantile, 2	17
928	c	SPS024	Spastic Paraplegia 14	17
929	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	17
930	c	LTB003	Ltbp4-Related Cutis Laxa	17
931	c	MLG152	Malignant Hyperthermia 6	17
932		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	16
933	c	DMN045	Diamond-Blackfan Anemia-Like	16
934		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	16
935	c	DMN048	Diamond-Blackfan Anemia 19	16
936	c	PRT113	Parietal Foramina 3	15
937	c	DMN049	Diamond-Blackfan Anemia 20	15
938		VLF001	Velofacioskeletal Syndrome	15
939	c	BLN020	Blount Disease, Infantile	15
940		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	15
941	c	SPS040	Spastic Paraplegia 5b	15
942	P	SPN300	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	14
943	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	14
944	c	SPS230	Spastic Paraplegia Type 49	14
945		OST173	Osteoradionecrosis of the Mandible	14
946		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	14
947		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	14
948		PLM145	Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	14
949		CLB032	Coloboma of Macula and Skeletal Anomalies	14
950		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	14
951		PHL009	Phalangeal Microgeodic Syndrome	14
952		BLN021	Blount Disease, Adolescent	14
953		PRM291	Premature Aging Syndrome, Okamoto Type	13
954	c	SPS165	Spastic Paraplegia 47	13
955		OST142	Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	13
956		BNK001	Banki Syndrome	13
957		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	13
958		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	13
959	c	KLL008	Kallmann Syndrome 6	13
960		DMN034	Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis	12
961		HYD062	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features	12
962		ISL032	Isolated Bone Marrow Mastocytosis	12
963		EPM003	Epimetaphyseal Skeletal Dysplasia	12
964		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	12
965		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	12
966		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	12
967		SKL024	Skeletal-Extraskeletal Angiomatosis	12
968		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	12
969		ANP010	Anaplastic Plasmacytoma	11
970	c	KLL005	Kallmann Syndrome 3	11
971		VNB002	Van Bogaert-Hozay Syndrome	11
972		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	11
973	c	BRC037	Brachydactyly Type A7	11
974	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	10
975		FYP001	Faye-Petersen-Ward-Carey Syndrome	10
976	c	CLC009	Clcn7-Related Osteopetrosis	10
977		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	10
978	c	KLL007	Kallmann Syndrome 5	10
979		THN012	Thanatophoric Dysplasia, Glasgow Variant	10
980		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	10
981	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	10
982	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	10
983	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	10
984	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	10
985	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	10
986	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	10
987	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	10
988	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	10
989	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	10
990		OSS016	Ossified Ear Cartilages	10
991		BNL001	Bone Leiomyosarcoma	9
992	c	KLL006	Kallmann Syndrome 4	9
993		NSL024	Nasal Bones, Absence of	9
994		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	9
995	c	FBL003	Fbln5-Related Cutis Laxa	9
996		ANG057	Angioosteohypotrophic Syndrome	9
997		INV019	Inverse Klippel-Trénaunay Syndrome	9
998		SKL009	Skeletal Dysplasia, San Diego Type	9
999	c	CLL016	Collagenopathy, Types Ii and Xi	9
1000		OST162	Osteomalacia, Sclerosing, with Cerebral Calcification	9
1001		CTK001	Cote Katsantoni Syndrome	8
1002		NRD064	Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to 9q21.3 Microdeletion	8
1003		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	8
1004		MGR005	Megarbane Syndrome	8
1005		OST161	Osteoma of Middle Ear	8
1006		OST155	Osteomas of Mandible	8
1007		PNS013	Panostotic Fibrous Dysplasia	8
1008		IDP078	Idiopathic Phalangeal Acro-Osteolysis	7
1009		SLV009	Slavotinek Pike Mills Hurst Syndrome	7
1010		BNP003	Bone Pain, Periodic	7
1011		PBC001	Pubic Bone Dysplasia	7
1012		EXP005	Expansile Bone Lesions	7
1013		INF132	Infantile Osteopetrosis with Neuroaxonal Dysplasia	7
1014	c	LRP007	Lrp5-Related Primary Osteoporosis	6
1015	c	ELN001	Elane-Related Neutropenia	6
1016		PNT008	Pointer Syndrome	6
1017		OST166	Osteoma of Cranial Vault, Familial	6
1018	P	BNS005	Bone Size Quantitative Trait Locus 1	6
1019	c	BNS006	Bone Size Quantitative Trait Locus 2	6
1020		PRM165	Primary Plasmacytoma of the Bone	6
1021		CNT014	Central Nervous System Osteosarcoma	6
1022		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	5
1023		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
1024		ALS004	Alsing Syndrome	5
1025		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	5
1026		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	5
1027		SND004	Sandhaus Ben-Ami Syndrome	4
1028		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
1029		CHT003	Chitty Hall Webb Syndrome	4
1030		TRC050	Tricho-Dento-Osseous Syndrome 1	4
1031		KZL005	Kozlowski Warren Fisher Syndrome	4
1032		THD001	Theodor Hertz Goodman Syndrome	4
1033		RGN002	Reginato Shiapachasse Syndrome	4
1034		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
1035		BND005	Bone Dysplasia Azouz Type	3
1036		BND006	Bone Dysplasia Corpus Callosum Agenesis	3
1037		BND008	Bone Dysplasia Moore Type	3
1038		VGN025	Vagneur Triolle Ripert Syndrome	3
1039		SKL008	Skeletal Dysplasia Orofacial Anomalies	3
1040		SST002	Sost-Related Sclerosing Bone Dysplasias	3
1041	c	SYS001	Systemic Lupus Erythematosus	88
1042		MYL069	Myeloma, Multiple	85
1043		PFF001	Pfeiffer Syndrome	80
1044	P	SRC025	Sarcoidosis 1	76
1045	P	NRF023	Neurofibromatosis, Type Ii	75
1046		MRF001	Marfan Syndrome	75
1047		BHC003	Behcet Syndrome	74
1048		KWS002	Kawasaki Disease	71
1049	P	LPS004	Lupus Erythematosus	69
1050	P	TMP003	Temporal Arteritis	69
1051		APR006	Apert Syndrome	69
1052	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	69
1053		GRN037	Granulomatosis with Polyangiitis	69
1054	P	ART023	Arthropathy	68
1055	c	PRM196	Premature Ovarian Failure 1	68
1056		SMT004	Smith-Lemli-Opitz Syndrome	68
1057	P	HYD006	Hydrocephalus	67
1058	P	SYS005	Systemic Scleroderma	67
1059		TKY002	Takayasu Arteritis	66
1060	P	GCH001	Gaucher's Disease	66
1061		ADL030	Adult-Onset Still's Disease	65
1062	c	GCH015	Gaucher Disease, Type I	65
1063		STH001	Saethre-Chotzen Syndrome	65
1064	P	AMY004	Amyloidosis	64
1065	c	CNG411	Congenital Disorder of Glycosylation, Type in	64
1066	P	RHN004	Rhinitis	64
1067	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
1068		INC002	Inclusion Body Myositis	63
1069	P	SHW006	Shwachman-Diamond Syndrome 1	63
1070	P	CRN015	Cornelia De Lange Syndrome	63
1071	c	MNN047	Mannosidosis, Alpha B, Lysosomal	63
1072		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	62
1073	P	MCK013	Meckel Syndrome, Type 1	62
1074		GT001	Gout	62
1075		PLS011	Plasmacytoma	62
1076		HNC001	Henoch-Schoenlein Purpura	61
1077	c	GCH016	Gaucher Disease, Type Ii	61
1078		KLP010	Klippel-Trenaunay-Weber Syndrome	61
1079		VSC003	Visceral Leishmaniasis	61
1080	P	HRD008	Hereditary Hemorrhagic Telangiectasia	60
1081	P	HST010	Histiocytosis	60
1082	P	SJG008	Sjogren Syndrome	60
1083		CHR619	Chromosome 2q35 Duplication Syndrome	60
1084		ACY010	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of	60
1085	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	60
1086	c	ANG068	Angioedema, Hereditary, Type I	58
1087	P	OCL013	Oculodentodigital Dysplasia	58
1088	P	SCL018	Scoliosis	58
1089	c	FNC042	Fanconi Anemia, Complementation Group D2	58
1090	c	CRP023	Carpenter Syndrome 1	58
1091	c	GCH017	Gaucher Disease, Type Iii	58
1092		HYP730	Hypogonadotropic Hypogonadism	58
1093		GRN051	Granulomatous Disease, Chronic, X-Linked	57
1094	P	ANG015	Angioedema	57
1095	P	PLY006	Polydactyly	57
1096	c	CRN139	Cornelia De Lange Syndrome 1	57
1097		SMT008	Smith-Magenis Syndrome	57
1098		LCR014	Lacrimoauriculodentodigital Syndrome	57
1099		GDP001	Goodpasture Syndrome	56
1100		OST024	Osteoporosis-Pseudoglioma Syndrome	56
1101		ANK001	Ankylosis	56
1102		GRG001	Greig Cephalopolysyndactyly Syndrome	56
1103	c	ALM001	Al Amyloidosis	55
1104	P	AGG001	Aggressive Periodontitis	55
1105		ASP002	Aspartylglucosaminuria	55
1106	c	AMY009	Amyloidosis Aa	55
1107		SPN019	Spondylolisthesis	55
1108		ERD001	Erdheim-Chester Disease	55
1109		MCR088	Microscopic Polyangiitis	55
1110	P	HLL001	Hallermann-Streiff Syndrome	55
1111	P	CRN108	Cranioectodermal Dysplasia 1	55
1112		SPN051	Spondylitis	55
1113		HRL003	Hurler Syndrome	55
1114	c	ANM036	Anemia, Sideroblastic, 1	54
1115	P	FNC044	Fanconi Anemia, Complementation Group C	54
1116		FLT011	Felty Syndrome	54
1117	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
1118	P	NLD001	Nail Disease	54
1119	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	54
1120	P	SCK004	Seckel Syndrome	54
1121		MLT135	Multiple Sulfatase Deficiency	54
1122	c	BRC051	Brachydactyly, Type B1	54
1123	P	OTS001	Otosclerosis	53
1124	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	53
1125	c	ART144	Arthrogryposis, Distal, Type 1a	53
1126		ACR011	Acromesomelic Dysplasia, Maroteaux Type	53
1127	c	ART120	Arthrogryposis, Distal, Type 3	52
1128	c	CNG208	Congenital Disorder of Glycosylation, Type Iic	52
1129	c	PRD039	Periodontitis, Aggressive, 1	52
1130	P	CNG412	Congenital Disorder of Glycosylation, Type Ii	52
1131	P	MYP087	Myopathy, Tubular Aggregate, 1	52
1132		ESN015	Eosinophilic Fasciitis	52
1133		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	52
1134		GLC012	Galactosialidosis	52
1135		DGN001	Degenerative Disc Disease	51
1136		SYN005	Synostosis	51
1137		HMR002	Hemarthrosis	50
1138	c	ACR116	Aicardi-Goutieres Syndrome 1	50
1139		DYG001	Dyggve-Melchior-Clausen Disease	50
1140	P	WLL002	Weill-Marchesani Syndrome	50
1141	c	NML002	Nemaline Myopathy 1	50
1142		DRG013	Drug-Induced Lupus Erythematosus	50
1143		CTY001	Cat Eye Syndrome	50
1144	c	BRC109	Brachydactyly, Type E1	50
1145	c	RBN021	Rubinstein-Taybi Syndrome 1	50
1146	c	GRN050	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	50
1147		DRM013	Dermoid Cyst	49
1148	c	EHL073	Ehlers-Danlos Syndrome, Classic Type, 1	49
1149	P	CLS054	Classic Ehlers-Danlos Syndrome	49
1150	P	PRX021	Proximal Symphalangism	49
1151	c	ACH041	Achondrogenesis, Type Ii	49
1152	c	CNG191	Congenital Disorder of Glycosylation, Type Iia	49
1153		PLN005	Palindromic Rheumatism	49
1154	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49
1155		HYP088	Hyper-Igd Syndrome	49
1156		MCR225	Macrophage Activation Syndrome	49
1157	c	NML003	Nemaline Myopathy 2	49
1158	c	GM2006	Gm2 Gangliosidosis	49
1159	P	NML001	Nemaline Myopathy	48
1160	c	HRD039	Hereditary Amyloidosis	48
1161		ACR058	Acrofacial Dysostosis 1, Nager Type	48
1162		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	48
1163	c	FNC032	Fanconi Anemia, Complementation Group B	48
1164		DYS018	Dysostosis	48
1165	c	SCK009	Seckel Syndrome 1	47
1166		MLT134	Multiple Pterygium Syndrome, Lethal Type	47
1167		CLB002	Clubfoot	47
1168	c	JVN003	Juvenile Xanthogranuloma	47
1169	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	47
1170	P	GNG009	Gangliosidosis	47
1171		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	47
1172	c	ART155	Arthrogryposis, Distal, Type 2b1	47
1173	P	FNG006	Feingold Syndrome 1	46
1174		ANT039	Antisynthetase Syndrome	46
1175	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	46
1176	c	BRC079	Brachydactyly, Type A2	46
1177	c	FNC028	Fanconi Anemia, Complementation Group L	46
1178		SND002	Sneddon Syndrome	46
1179	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	46
1180	c	CRN243	Carney Complex, Type 1	45
1181		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	45
1182	c	BRC081	Brachydactyly, Type C	45
1183	P	MLT072	Multiple Synostoses Syndrome	45
1184	c	FNC029	Fanconi Anemia, Complementation Group I	45
1185	P	MNN018	Mannosidosis	45
1186	P	RDL002	Radioulnar Synostosis	45
1187	c	FNC045	Fanconi Anemia, Complementation Group F	45
1188	P	CPL003	Capillary Leak Syndrome	45
1189	P	SCL057	Scoliosis, Isolated 1	45
1190	c	SYS007	Systemic Capillary Leak Syndrome	45
1191	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	45
1192		VLL003	Villonodular Synovitis	45
1193		CHN010	Chondroma	44
1194		SHR098	Short-Rib Thoracic Dysplasia 12	44
1195	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1196	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	44
1197	c	MCK032	Meckel Syndrome, Type 3	44
1198		CHN053	Chondromyxoid Fibroma	44
1199	c	NML004	Nemaline Myopathy 3	44
1200	c	MCK012	Meckel Syndrome, Type 6	44
1201	P	SYN012	Synpolydactyly	44
1202	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	44
1203	c	CNG497	Congenital Disorder of Glycosylation, Type Iio	44
1204	c	PRM093	Premature Ovarian Failure 7	44
1205		RHM035	Rheumatic Fever-Related Antigen	44
1206	P	ANL018	Analbuminemia	44
1207	c	CNG190	Congenital Disorder of Glycosylation, Type Iib	43
1208	c	CNG206	Congenital Disorder of Glycosylation, Type Ie	43
1209	c	FNC025	Fanconi Anemia, Complementation Group J	43
1210		PRM057	Paramyotonia Congenita of Von Eulenburg	43
1211	c	CNG504	Congenital Disorder of Glycosylation, Type Iip	43
1212		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	43
1213		EPC002	Epicondylitis	43
1214	c	CNG023	Congenital Fibrosarcoma	43
1215	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	43
1216	c	SPN330	Spondylocostal Dysostosis 5	42
1217		FBL002	Fibular Hypoplasia and Complex Brachydactyly	42
1218	c	SPL034	Split-Hand/foot Malformation 4	42
1219		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	42
1220	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	42
1221	c	FNC023	Fanconi Anemia, Complementation Group N	42
1222		HND004	Hand-Foot-Genital Syndrome	42
1223	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	42
1224	c	CNG204	Congenital Disorder of Glycosylation, Type Iih	42
1225		SPN029	Spondylolysis	42
1226		HMF009	Hemifacial Hyperplasia	42
1227		HYL004	Hyaline Fibromatosis Syndrome	42
1228	P	PST059	Pustular Psoriasis	42
1229	c	ACQ012	Acquired Angioedema	42
1230	P	YWS001	Yaws	42
1231	c	CNG389	Congenital Disorder of Glycosylation, Type Iim	41
1232	P	GRN048	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative	41
1233		CRR002	Currarino Syndrome	41
1234	P	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	41
1235	c	CNG209	Congenital Disorder of Glycosylation, Type Iif	41
1236		SPN331	Spondyloocular Syndrome	41
1237		MYH012	Myhre Syndrome	41
1238	c	CNG203	Congenital Disorder of Glycosylation, Type Iii	41
1239		ISL121	Isolated Split Hand-Split Foot Malformation	41
1240	P	MTC010	Mitochondrial Dna Depletion Syndrome	41
1241	c	SCK015	Seckel Syndrome 2	41
1242	c	CNG187	Congenital Disorder of Glycosylation, Type Iid	41
1243	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	40
1244		HYD003	Hydrarthrosis	40
1245		SPN036	Spinal Chordoma	40
1246		ESN017	Eosinophilic Granuloma	40
1247		GNT031	Genitopatellar Syndrome	40
1248		IDP070	Idiopathic Scoliosis	40
1249	c	CHR048	Chronic Rhinitis	40
1250		LRN006	Laurin-Sandrow Syndrome	40
1251	P	SPL061	Split Hand-Foot Malformation	40
1252		MLT162	Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects	40
1253	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	40
1254	c	NML005	Nemaline Myopathy 4	40
1255	c	HYD064	Hydrocephalus, Congenital, 1	39
1256	c	MCK033	Meckel Syndrome, Type 4	39
1257		HRL004	Hurler-Scheie Syndrome	39
1258	c	VNM003	Van Maldergem Syndrome 1	39
1259	c	MCK031	Meckel Syndrome, Type 2	39
1260	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	39
1261	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	38
1262		LTT002	Letterer-Siwe Disease	38
1263	c	CNG189	Congenital Disorder of Glycosylation, Type Ib	38
1264	c	SPL024	Split-Hand/foot Malformation 3	38
1265		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	38
1266	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	38
1267		HYP007	Hypermobility Syndrome	38
1268		PSR016	Psoriatic Juvenile Idiopathic Arthritis	38
1269		CPM001	Cap Myopathy	38
1270	P	PRD037	Periodontal Ehlers-Danlos Syndrome	38
1271		PDT035	Pediatric Systemic Lupus Erythematosus	38
1272	c	FNC048	Fanconi Anemia, Complementation Group O	38
1273	c	CNG383	Congenital Disorder of Glycosylation, Type Iik	38
1274	c	SCP001	Sc Phocomelia Syndrome	38
1275		SHL001	Shoulder Impingement Syndrome	38
1276		SYN086	Synostoses, Tarsal, Carpal, and Digital	37
1277	c	SPL070	Split-Hand/foot Malformation 2	37
1278	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	37
1279		DPH019	Diaphanospondylodysostosis	37
1280	c	ADL019	Adult Fibrosarcoma	37
1281	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	37
1282	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	37
1283	c	MCK014	Meckel Syndrome, Type 5	37
1284		MND025	Mandibulofacial Dysostosis with Alopecia	37
1285	c	INF092	Inflammatory Bowel Disease 9	37
1286	c	CNG498	Congenital Disorder of Glycosylation, Type Iin	37
1287		MLG141	Malignant Atrophic Papulosis	37
1288		FNC030	Fanconi Anemia, Complementation Group G	37
1289	c	SPL033	Split-Hand/foot Malformation 6	37
1290	P	CRB154	Cerebrocostomandibular Syndrome	37
1291	c	GRN049	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	36
1292		PRS037	Periostitis	36
1293		TRS002	Tarsal-Carpal Coalition Syndrome	36
1294		RVL002	Ruvalcaba Syndrome	36
1295		MYL002	Myelophthisic Anemia	36
1296		LMB008	Limb-Mammary Syndrome	36
1297	P	GLP001	Geleophysic Dysplasia	36
1298		EPP011	Epiphyseal Chondrodysplasia, Miura Type	36
1299		OLC001	Olecranon Bursitis	36
1300	c	CNG379	Congenital Disorder of Glycosylation, Type It	36
1301		OCH001	Ochronosis	36
1302	P	DVL012	Developmental Dysplasia of the Hip 1	36
1303	c	NML006	Nemaline Myopathy 5	36
1304		MST019	Mastoiditis	36
1305	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	36
1306		XNT009	Xanthoma Disseminatum	36
1307		LNZ003	Lenz-Majewski Hyperostotic Dwarfism	36
1308		CLV002	Clivus Chordoma	36
1309	c	FNC047	Fanconi Anemia, Complementation Group Q	35
1310	c	INF087	Inflammatory Bowel Disease 4	35
1311		ANG062	Angioosteohypertrophic Syndrome	35
1312	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	35
1313	c	SVR040	Severe Congenital Nemaline Myopathy	35
1314	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	35
1315	c	TYP024	Type Ii Mixed Cryoglobulinemia	35
1316	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
1317	c	GRN038	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii	35
1318	c	TRC078	Trichohepatoenteric Syndrome 2	35
1319		ADN029	Adenosine Monophosphate Deaminase 1 Deficiency	34
1320	c	TLN011	Telangiectasia, Hereditary Hemorrhagic, Type 2	34
1321		TRG019	Trigonocephaly with Short Stature and Developmental Delay	34
1322	c	FNC052	Fanconi Anemia, Complementation Group T	34
1323	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	34
1324	c	SYS043	Systemic Lupus Erythematosus 1	34
1325	c	CNG195	Congenital Disorder of Glycosylation, Type Id	34
1326	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	34
1327		ATS391	Autosomal Recessive Cutis Laxa Type Ii Classic Type	34
1328		CNS013	Constricting Bands, Congenital	34
1329	P	SYN059	Syndactyly, Type V	34
1330	P	NNT042	Neonatal Lupus Erythematosus	34
1331	c	SPL025	Split-Hand/foot Malformation 5	34
1332	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	34
1333	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	34
1334	c	SYN061	Syndactyly, Type Iv	34
1335	P	CXV002	Coxa Vara	34
1336		INF159	Infantile Sialic Acid Storage Disease	33
1337		IDP041	Idiopathic Recurrent Pericarditis	33
1338	c	CNG196	Congenital Disorder of Glycosylation, Type Ic	33
1339	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	33
1340		MYC015	Mycobacterium Fortuitum	33
1341	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	33
1342	c	MYT027	Myotonia Congenita, Autosomal Dominant	33
1343		TRM011	Terminal Osseous Dysplasia	33
1344	c	CRN109	Cranioectodermal Dysplasia 2	33
1345		ENC014	Enchondroma	33
1346		UND007	Undifferentiated Connective Tissue Disease	33
1347	c	MCK034	Meckel Syndrome, Type 8	33
1348		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	33
1349		BRC004	Brachydactyly-Syndactyly Syndrome	33
1350	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	33
1351	c	GLP003	Geleophysic Dysplasia 1	33
1352		NNT039	Neonatal Marfan Syndrome	33
1353		CTN019	Cutaneous Polyarteritis Nodosa	32
1354	c	EHL075	Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	32
1355	c	CNG205	Congenital Disorder of Glycosylation, Type Ij	32
1356		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	32
1357	c	RBN008	Rubinstein-Taybi Syndrome 2	32
1358	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	32
1359		CHN009	Chondroid Chordoma	32
1360	c	SYN084	Synpolydactyly 1	32
1361	c	CNG198	Congenital Disorder of Glycosylation, Type Il	32
1362	c	WLL036	Weill-Marchesani Syndrome 1	32
1363	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	32
1364	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	32
1365		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	32
1366	P	PLY148	Polydactyly, Preaxial Ii	32
1367	c	CNG199	Congenital Disorder of Glycosylation, Type Im	32
1368	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	32
1369		MLR023	Melorheostosis, Isolated	32
1370	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	31
1371	c	GLP004	Geleophysic Dysplasia 2	31
1372	c	CNG192	Congenital Disorder of Glycosylation, Type Ik	31
1373		PRD012	Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis	31
1374	c	INT274	Intermediate Congenital Nemaline Myopathy	31
1375	c	CNG414	Congenital Disorder of Glycosylation, Type Iil	31
1376	c	MND002	Mandibuloacral Dysplasia with Type B Lipodystrophy	31
1377	c	CNG188	Congenital Disorder of Glycosylation, Type if	31
1378	P	MTP005	Metaphyseal Anadysplasia	31
1379	c	CNG403	Congenital Disorder of Glycosylation, Type Ix	31
1380		CVR001	Cavernous Sinus Meningioma	31
1381	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	31
1382		MTP028	Metaphyseal Dysplasia, Spahr Type	31
1383		ISL062	Isolated Plagiocephaly	31
1384		ALG027	Al-Gazali-Bakalinova Syndrome	31
1385	P	ACR106	Acrocephalopolysyndactyly Type Iii	31
1386		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	31
1387	c	ACR081	Aicardi-Goutieres Syndrome 6	31
1388	c	INF086	Inflammatory Bowel Disease 3	31
1389		SPN125	Spondyloenchondrodysplasia	31
1390	c	SCK010	Seckel Syndrome 4	31
1391	c	INF089	Inflammatory Bowel Disease 6	30
1392		HMF010	Hemifacial Microsomia with Radial Defects	30
1393		TBR007	Tuberculum Sellae Meningioma	30
1394	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	30
1395	c	SCK011	Seckel Syndrome 5	30
1396	P	ADL037	Adult Xanthogranuloma	30
1397	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	30
1398		EF001	Eaf	30
1399		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	30
1400	P	VNM004	Van Maldergem Syndrome	30
1401		WLD005	Wild Type Attr Amyloidosis	30
1402	c	CNG386	Congenital Disorder of Glycosylation, Type Iu	30
1403	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	30
1404	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	30
1405	c	DSB005	Desbuquois Dysplasia 2	30
1406		PTL002	Patellofemoral Pain Syndrome	30
1407	c	WLL037	Weill-Marchesani Syndrome 2	30
1408	c	ATS210	Autosomal Recessive Sideroblastic Anemia	30
1409		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	29
1410		ACR017	Acrofacial Dysostosis	29
1411		KMM001	Kummell's Disease	29
1412	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	29
1413	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	29
1414		ECT102	Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome	29
1415	c	NLD016	Nail Disorder, Nonsyndromic Congenital, 10	29
1416		FBR028	Fibrosing Mediastinitis	29
1417	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	29
1418		ISL096	Isolated Klippel-Feil Syndrome	29
1419		STL007	Steel Syndrome	29
1420	c	CNG416	Congenital Disorder of Glycosylation, Type Iy	29
1421		CRN264	Craniosynostosis with Fibular Aplasia	29
1422		HYP682	Hypertelorism, Teebi Type	29
1423		INN003	Iniencephaly	29
1424		CLV004	Calvarial Hyperostosis	29
1425		PTR002	Petroclival Meningioma	29
1426	c	PLY149	Polydactyly, Preaxial Iv	29
1427	c	OMD001	Omodysplasia 1	29
1428	c	PLY136	Polydactyly, Preaxial I	29
1429		KLB005	Kleeblattschaedel	28
1430	c	INF088	Inflammatory Bowel Disease 5	28
1431		WLD004	Wildervanck Syndrome	28
1432	c	EHL083	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	28
1433		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
1434		BNG069	Benign Cephalic Histiocytosis	28
1435	c	STS007	Sotos Syndrome 2	28
1436	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	28
1437		HMR015	Humeroradial Synostosis	28
1438	P	SKL005	Skull Base Meningioma	28
1439	c	FRN033	Frontonasal Dysplasia 2	28
1440		FRN022	Frontofacionasal Dysplasia	28
1441	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	28
1442		OCL040	Oculomaxillofacial Dysostosis	28
1443	c	ART104	Arthrogryposis, Distal, Type 5d	28
1444		VND005	Van Den Ende-Gupta Syndrome	28
1445		HLS001	Heel Spur	28
1446	c	CNG193	Congenital Disorder of Glycosylation, Type Ip	28
1447	c	CNG378	Congenital Disorder of Glycosylation, Type Ir	28
1448		EPP020	Epiphyseal Dysplasia, Microcephaly, and Nystagmus	28
1449	c	SYM022	Symphalangism, Proximal, 1a	28
1450	c	CNG388	Congenital Disorder of Glycosylation, Type Iw	28
1451		HYP679	Hypoglossia-Hypodactylia	27
1452	c	LYS020	Loeys-Dietz Syndrome 5	27
1453	c	CNG496	Congenital Disorder of Glycosylation, Type Iiq	27
1454	c	THR069	Three M Syndrome 2	27
1455		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	27
1456	c	OTF003	Otofaciocervical Syndrome 2	27
1457	c	MCK028	Meckel Syndrome 13	27
1458		TBL008	Tibial Hemimelia	27
1459		ACR099	Acrofacial Dysostosis, Catania Type	27
1460		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	27
1461		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	27
1462		CRY024	Crystal Arthropathies	27
1463		DGT002	Digital Clubbing, Isolated Congenital	27
1464	c	ANG045	Angioedema, Hereditary, Type Iii	27
1465	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	27
1466		CHR588	Chromosome 8q22.1 Duplication Syndrome	27
1467	c	CRP022	Carpenter Syndrome 2	27
1468	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	27
1469		LMB069	Lamb-Shaffer Syndrome	27
1470		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	27
1471	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	26
1472	c	MRG010	Meier-Gorlin Syndrome 3	26
1473		NCR009	Necrobiotic Xanthogranuloma	26
1474		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	26
1475	c	PRM089	Premature Ovarian Failure 3	26
1476		BJL001	Bejel	26
1477	c	INF075	Inflammatory Bowel Disease 16	26
1478	c	PSD107	Pseudo-Torch Syndrome 2	26
1479		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
1480		PST044	Postorgasmic Illness Syndrome	26
1481		RMR001	Ramer Ladda Syndrome	26
1482	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	26
1483	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	26
1484		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	26
1485		CMP025	Camptodactyly, Tall Stature, and Hearing Loss Syndrome	26
1486	c	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	26
1487	c	NML022	Nemaline Myopathy 10	26
1488		ASS004	Aase-Smith Syndrome I	26
1489	c	MRG015	Meier-Gorlin Syndrome 7	26
1490		HYP648	Hypertension and Brachydactyly Syndrome	26
1491		EPP010	Epiphysiolysis of the Hip	26
1492		ORB011	Orbit Rhabdomyosarcoma	26
1493	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	26
1494	c	MYP088	Myopathy, Tubular Aggregate, 2	26
1495	c	MCK035	Meckel Syndrome, Type 10	26
1496	c	CRN135	Cornelia De Lange Syndrome 3	26
1497		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	26
1498	c	NML007	Nemaline Myopathy 6	25
1499	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	25
1500	c	VNM002	Van Maldergem Syndrome 2	25
1501		CHR159	Charlie M Syndrome	25
1502	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	25
1503		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	25
1504	c	ART131	Arthrogryposis, Distal, Type 4	25
1505	c	ADL068	Adult-Onset Nemaline Myopathy	25
1506	c	WLL040	Weill-Marchesani Syndrome 4	25
1507	P	NNT006	Neonatal Myasthenia Gravis	25
1508		IGG008	Igg4-Related Mesenteritis	25
1509		TTR023	Tetraamelia-Multiple Malformations Syndrome	25
1510	c	CRN215	Cornelia De Lange Syndrome 4	25
1511	c	CNG507	Congenital Disorder of Glycosylation, Type I/iix	25
1512	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	25
1513	c	PRM192	Premature Ovarian Failure 8	25
1514	c	MLT060	Multiple Synostoses Syndrome 2	25
1515	c	INF078	Inflammatory Bowel Disease 2	25
1516		CMB064	Combined Oxidative Phosphorylation Deficiency 24	25
1517		PRR001	Periarthritis	25
1518	c	CRN209	Cornelia De Lange Syndrome 5	25
1519	c	FRN032	Frontonasal Dysplasia 3	25
1520		ISL089	Isolated Scaphocephaly	25
1521	c	ART122	Arthrogryposis, Distal, Type 8	25
1522	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	25
1523	c	WLL038	Weill-Marchesani Syndrome 3	25
1524		HSH001	Hashimoto-Pritzker Syndrome	25
1525		SGL002	Sagliker Syndrome	25
1526		SPN358	Spondyloepimetaphyseal Dysplasia, X-Linked	25
1527	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	25
1528	c	ACR103	Acrofrontofacionasal Dysostosis 1	25
1529	c	SYN060	Syndactyly, Type Iii	24
1530		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24
1531		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	24
1532	P	KNN002	Kenny-Caffey Syndrome	24
1533		PLY135	Polydactyly, Postaxial, with Progressive Myopia	24
1534		ISL087	Isolated Oxycephaly	24
1535	P	ACR093	Acrofrontofacionasal Dysostosis	24
1536	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
1537	c	ACR105	Acrofrontofacionasal Dysostosis 2	24
1538		CRN266	Craniofacial Dyssynostosis with Short Stature	24
1539	c	CFF011	Coffin-Siris Syndrome 6	24
1540	c	NML010	Nemaline Myopathy 7	24
1541	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	24
1542		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	24
1543		ISL061	Isolated Brachycephaly	24
1544	c	MTC129	Mitochondrial Dna Depletion Syndrome 15	24
1545	c	SCK029	Seckel Syndrome 7	24
1546	c	CNG514	Congenital Radioulnar Synostosis	24
1547	c	EHL065	Ehlers-Danlos Syndrome, Type V	24
1548	c	FNG009	Feingold Syndrome 2	24
1549		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	24
1550		NVR001	Nievergelt Syndrome	24
1551	c	EHL086	Ehlers-Danlos Syndrome, Musculocontractural Type, 2	24
1552		FBR010	Fibrogenesis Imperfecta Ossium	24
1553	c	DKP001	Dk Phocomelia Syndrome	23
1554	P	FRM004	Foramen Magnum Meningioma	23
1555		PSD030	Pseudodiastrophic Dysplasia	23
1556		IGG014	Igg4-Related Sclerosing Cholangitis	23
1557	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	23
1558		PRT043	Parietal Foramina with Cleidocranial Dysplasia	23
1559		TMP008	Tempi Syndrome	23
1560	c	JVN019	Juvenile Temporal Arteritis	23
1561		PRP090	Peripheral Dysostosis	23
1562		PLC002	Plica Syndrome	23
1563	c	MRG011	Meier-Gorlin Syndrome 4	23
1564	P	ACR020	Acropectorovertebral Dysplasia	23
1565		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	23
1566		OCL030	Oculoauriculofrontonasal Syndrome	23
1567		FBR091	Fibroblastic Rheumatism	23
1568	c	MRG009	Meier-Gorlin Syndrome 2	23
1569	c	PRM094	Premature Ovarian Failure 5	23
1570	c	CFF012	Coffin-Siris Syndrome 7	23
1571	c	CFF006	Coffin-Siris Syndrome 5	23
1572		SCH031	Scholte Syndrome	23
1573		GNR023	Generalized Eruptive Histiocytosis	23
1574		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
1575	c	SCK037	Seckel Syndrome 9	23
1576	c	MLT078	Multiple Synostoses Syndrome 3	23
1577		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	23
1578		INF118	Inflammatory Myopathy with Abundant Macrophages	23
1579	c	SCK038	Seckel Syndrome 10	23
1580	c	ANM034	Anemia, Sideroblastic, 4	23
1581	c	THR096	Three M Syndrome 3	23
1582		HGH021	Hughes-Stovin Syndrome	23
1583	c	MRG014	Meier-Gorlin Syndrome 6	23
1584	c	PRM090	Premature Ovarian Failure 6	23
1585	c	PRT063	Proteus-Like Syndrome	23
1586		INT182	Intermittent Hydrarthrosis	22
1587	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	22
1588		FMR016	Femur-Fibula-Ulna Syndrome	22
1589	c	NNT025	Neonatal Systemic Lupus Erythematosus	22
1590	c	TWN010	Townes-Brocks Syndrome 2	22
1591	c	OTS005	Otosclerosis 1	22
1592		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	22
1593		ACR107	Acrofacial Dysostosis, Palagonia Type	22
1594	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	22
1595	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	22
1596	c	PRM254	Premature Ovarian Failure 11	22
1597		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	22
1598		SYM024	Symphalangism, Distal	22
1599	P	PHC014	Phocomelia	22
1600		MDL024	Madelung Deformity	22
1601	P	KYP005	Kyphoscoliotic Ehlers-Danlos Syndrome	22
1602		ANG049	Angioedema Induced by Ace Inhibitors	22
1603		DVL018	Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair	22
1604		ADL082	Adult Pulmonary Langerhans Cell Histiocytosis	22
1605	c	TRC073	Treacher Collins Syndrome 2	22
1606		ACR101	Acrocraniofacial Dysostosis	22
1607		SPH003	Sphenoorbital Meningioma	22
1608		SWN003	Sweeney-Cox Syndrome	22
1609	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	22
1610		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	22
1611	c	EHL091	Ehlers-Danlos Syndrome Type 7a	22
1612	c	MRG012	Meier-Gorlin Syndrome 5	22
1613	P	PRM176	Premature Ovarian Failure 2a	22
1614	c	TRC071	Treacher Collins Syndrome 3	22
1615	c	MCK036	Meckel Syndrome, Type 9	22
1616	P	TRC034	Torch Syndrome	22
1617	c	SYN088	Synpolydactyly 2	22
1618		TBS009	Teebi-Shaltout Syndrome	22
1619	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	22
1620	c	INF072	Inflammatory Bowel Disease 11	21
1621	c	SCK033	Seckel Syndrome 8	21
1622		PRG077	Progressive Nodular Histiocytosis	21
1623		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	21
1624	c	CLC055	Cole-Carpenter Syndrome 2	21
1625	c	TLN008	Telangiectasia, Hereditary Hemorrhagic, Type 5	21
1626	c	PRM207	Premature Ovarian Failure 10	21
1627	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	21
1628		INF009	Inflammatory Spondylopathy	21
1629	P	CNG539	Congenital Disorder of Glycosylation with Defective Fucosylation 1	21
1630	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	21
1631		RFM002	Roifman-Chitayat Syndrome	21
1632		BRN123	Branchial Arch Syndrome, X-Linked	21
1633	c	INF162	Inflammatory Bowel Disease 25	21
1634	P	OVR096	Overlap Myositis	21
1635	c	NML021	Nemaline Myopathy 9	21
1636		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	21
1637		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	21
1638		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	21
1639		ART136	Arthrogryposis, Distal, with Impaired Proprioception and Touch	21
1640	c	TLN010	Telangiectasia, Hereditary Hemorrhagic, Type 4	21
1641		CRN200	Craniosynostosis and Dental Anomalies	21
1642	c	INF090	Inflammatory Bowel Disease 7	21
1643		WLD006	Wild Type Abeta2m Amyloidosis	21
1644		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	21
1645		RDL022	Radial Hemimelia	21
1646	c	MCK020	Meckel Syndrome, Type 11	21
1647	c	PRM191	Premature Ovarian Failure 9	21
1648		ULN023	Ulnar Hypoplasia	21
1649	c	PRV016	Periventricular Nodular Heterotopia 6	21
1650	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	21
1651	c	CHL114	Chilblain Lupus 2	20
1652		MSL005	Mseleni Joint Disease	20
1653	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	20
1654		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	20
1655		PLV015	Pelvis-Shoulder Dysplasia	20
1656		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	20
1657		MTC100	Metacarpal 4-5 Fusion	20
1658		CLV012	Clavicle, Pseudarthrosis of, Congenital	20
1659		PTL010	Patella Aplasia-Hypoplasia	20
1660		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	20
1661		ACR019	Acropectoral Syndrome	20
1662	c	SYS040	Systemic Lupus Erythematosus 10	20
1663		SPC002	Specific Bursitis Often of Occupational Origin	20
1664	c	XLN227	X-Linked Chondrodysplasia Punctata 1	20
1665		IGG015	Igg4-Related Thyroid Disease	20
1666		MNS012	Monostotic Fibrous Dysplasia	20
1667		AFR001	African Histoplasmosis	20
1668	c	SYS038	Systemic Lupus Erythematosus 2	20
1669	c	ART060	Arthrogryposis, Distal, Type 1b	20
1670	c	GLP007	Geleophysic Dysplasia 3	20
1671	c	PRM150	Primary Localized Amyloidosis	20
1672		CNG284	Congenital Pseudoarthrosis of the Tibia	20
1673		ISL084	Isolated Trigonocephaly	19
1674	c	PRM253	Premature Ovarian Failure 13	19
1675	c	STS009	Sotos Syndrome 3	19
1676	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	19
1677		DYS134	Dysspondyloenchondromatosis	19
1678	c	RRM004	Rrm2b-Related Mitochondrial Dna Depletion Syndrome	19
1679		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19
1680	c	SCK032	Seckel Syndrome 6	19
1681		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1682		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
1683		MSM019	Mesomelic Dysplasia, Savarirayan Type	19
1684	c	PRM091	Premature Ovarian Failure 2b	19
1685	c	ACR108	Acrocephalopolysyndactyly Type Iv	19
1686		DYS180	Dyschondrosteosis and Nephritis	19
1687	c	INF079	Inflammatory Bowel Disease 20	19
1688		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	19
1689	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	19
1690		KNS006	Kniest-Like Dysplasia, Lethal	19
1691		MTT004	Metatarsus Adductus	19
1692		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	18
1693		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	18
1694	c	PRM255	Premature Ovarian Failure 12	18
1695	c	HYD042	Hydrocephalus, Autosomal Dominant	18
1696		TBL006	Tibial Adamantinoma	18
1697		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1698	c	SYM019	Symphalangism, Proximal, 1b	18
1699		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	18
1700		CTN031	Cutaneous Pseudolymphoma	18
1701		SCL051	Scalp Defects and Postaxial Polydactyly	18
1702	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	18
1703		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18
1704	c	MRG016	Meier-Gorlin Syndrome 8	18
1705		OTN001	Otoonychoperoneal Syndrome	18
1706	c	PSR022	Psoriasis 15, Pustular	18
1707		JNT004	Joint Laxity, Short Stature, and Myopia	18
1708		FMR013	Femoral Agenesis/hypoplasia	18
1709	c	MLT166	Multiple Synostoses Syndrome 4	18
1710		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	18
1711	c	PLY103	Polydactyly, Postaxial, Type A5	18
1712		CRN224	Craniofaciofrontodigital Syndrome	18
1713		MSM018	Mesomelic Limb Shortening and Bowing	18
1714		HST018	Histiocytosis, Progressive Mucinous	18
1715		SPN353	Spondylometaphyseal Dysplasia, X-Linked	18
1716		HMR016	Humeroradioulnar Synostosis	18
1717		IGG013	Igg4-Related Pachymeningitis	18
1718		BRC100	Brachydactyly, Combined B and E Types	18
1719		THR032	Thoracolaryngopelvic Dysplasia	18
1720	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	18
1721	c	SCL049	Scoliosis, Isolated 3	17
1722	c	CNG336	Congenital Analbuminemia	17
1723		THR033	Thoracomelic Dysplasia	17
1724		IGG009	Igg4-Related Ophthalmic Disease	17
1725		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	17
1726		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	17
1727		ULN005	Ulna and Fibula, Hypoplasia of	17
1728	c	PRM295	Premature Ovarian Failure 15	17
1729	c	PLY163	Polydactyly, Postaxial, Type A2	17
1730	c	TRN062	Transient Neonatal Myasthenia Gravis	17
1731		TBT001	Tabatznik Syndrome	17
1732	c	CFF013	Coffin-Siris Syndrome 8	17
1733	c	SX2003	Six2-Related Frontonasal Dysplasia	17
1734	c	SYS066	Systemic Polyarteritis Nodosa	17
1735		MMM002	Mammary-Digital-Nail Syndrome	17
1736		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	17
1737	c	SRC024	Sarcoidosis 3	17
1738	c	SYS069	Systemic Lupus Erythematosus 6	17
1739		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	17
1740		PPL038	Papular Xanthoma	17
1741	c	TLN009	Telangiectasia, Hereditary Hemorrhagic, Type 3	17
1742		LNG102	Long-Thumb Brachydactyly Syndrome	17
1743		CNG529	Congenital Femoral Deficiency	17
1744	c	PLY101	Polydactyly, Postaxial, Type A6	17
1745	c	SYS053	Systemic Lupus Erythematosus 5	17
1746	c	ART156	Arthrogryposis, Distal, Type 2b2	17
1747	c	SYS065	Systemic Lupus Erythematosus 11	17
1748		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	17
1749	c	ART157	Arthrogryposis, Distal, Type 2b3	16
1750	c	AHM002	Ah Amyloidosis	16
1751		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	16
1752	c	PLY137	Polydactyly, Preaxial Iii	16
1753		MMB012	Membranous Cranial Ossification, Delayed	16
1754		DYS049	Dysplastic Cortical Hyperostosis	16
1755	c	TYP003	Type I Ehlers-Danlos Syndrome	16
1756		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	16
1757	c	EXS021	Exostoses, Multiple, Type Iii	16
1758	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
1759	c	OTS012	Otosclerosis 10	16
1760		SMM003	Summitt Syndrome	16
1761	c	CRN298	Carney Complex, Type 2	16
1762		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
1763		SGR001	Sugarman Brachydactyly	16
1764	c	OTS007	Otosclerosis 3	16
1765		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	16
1766	c	PLY144	Polydactyly, Postaxial, Type A7	16
1767	c	PRM292	Premature Ovarian Failure 14	16
1768		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
1769		CLD006	Cleidorhizomelic Syndrome	16
1770		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	16
1771		SPN155	Spondylospinal Thoracic Dysostosis	16
1772	c	SYS041	Systemic Lupus Erythematosus 9	16
1773		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	16
1774	c	PLY178	Polydactyly, Postaxial, Type A8	16
1775	c	INF073	Inflammatory Bowel Disease 12	16
1776		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
1777		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1778		KLL015	Kallmann Syndrome with Spastic Paraplegia	16
1779		TTR016	Tetra-Amelia Syndrome	16
1780		BRC114	Brachyolmia Type 1, Hobaek Type	16
1781		CRN192	Craniorhiny	15
1782		CMP016	Camptobrachydactyly	15
1783		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	15
1784		IGG011	Igg4-Related Kidney Disease	15
1785	c	CNG541	Congenital Disorder of Glycosylation with Defective Fucosylation 2	15
1786	c	INF080	Inflammatory Bowel Disease 21	15
1787		ADC008	Adactylia, Unilateral	15
1788	c	OTS006	Otosclerosis 2	15
1789	c	MTC014	Mitochondrial Dna Deletion Syndromes	15
1790		MGP001	Megaepiphyseal Dwarfism	15
1791		THM019	Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay	15
1792	c	SYS046	Systemic Lupus Erythematosus 3	15
1793	c	CNT108	Central Polydactyly	15
1794		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	15
1795		SPN120	Spondylocamptodactyly	15
1796		ART154	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	15
1797		GNC010	Genochondromatosis	15
1798		LMB003	Lumbosacral Lipoma	15
1799		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	15
1800		THR109	Thoracic Dysplasia-Hydrocephalus Syndrome	15
1801	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	15
1802		AML053	Amelia, Autosomal Recessive	15
1803		RDL031	Radial Aplasia, X-Linked	15
1804	c	PLY182	Polydactyly, Postaxial, Type A9	15
1805	P	ZYG003	Zygodactyly 1	15
1806	c	INF091	Inflammatory Bowel Disease 8	15
1807		HYP497	Hyperphalangy	15
1808		PLY132	Polysyndactyly, Crossed	15
1809	c	OTS010	Otosclerosis 7	15
1810		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1811		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1812	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	15
1813		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	15
1814		TTR010	Tetramelic Monodactyly	15
1815		MCP034	Mucopolysaccharidosis Type 2, Attenuated Form	14
1816	c	DVL011	Developmental Dysplasia of the Hip 2	14
1817		HRR003	Herrmann Opitz Craniosynostosis	14
1818	c	INF161	Inflammatory Bowel Disease 28	14
1819	c	EHL088	Ehlers-Danlos Syndrome Type 2	14
1820		ECT086	Ectrodactyly-Polydactyly	14
1821	c	OTS011	Otosclerosis 8	14
1822	c	SYS055	Systemic Lupus Erythematosus 12	14
1823		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	14
1824	P	HRD209	Hereditary Angioedema with Normal C1inh	14
1825		DPH002	Diaphragma Sellae Meningioma	14
1826		CNS012	Cono-Spondylar Dysplasia	14
1827		INT058	Intraorbital Meningioma	14
1828		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	14
1829		CHN047	Chondroectodermal Dysplasia with Night Blindness	14
1830		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	14
1831	c	GRN044	Granulomatous Disease, Chronic, Autosomal Dominant Type	14
1832	c	INF076	Inflammatory Bowel Disease 18	14
1833	c	OTS008	Otosclerosis 4	14
1834		CHN027	Chondrodysplasia Lethal Recessive	14
1835		HLL014	Hallux Varus and Preaxial Polysyndactyly	14
1836		PST104	Postaxial Oligodactyly, Tetramelic	14
1837	c	SYS051	Systemic Lupus Erythematosus 4	14
1838	c	SYS047	Systemic Lupus Erythematosus 7	14
1839	c	PSD023	Pseudo-Gaucher Disease	14
1840		WHB001	Wahab Syndrome	14
1841	c	SYN040	Synpolydactyly 3	14
1842	c	MTP014	Metaphyseal Anadysplasia 2	14
1843		AST010	Astley-Kendall Syndrome	14
1844		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	14
1845		LRS009	Larsen-Like Syndrome, Lethal Type	14
1846		CLV003	Clivus Meningioma	14
1847	c	PLY054	Polydactyly, Postaxial, Type A4	13
1848	c	PLY053	Polydactyly, Postaxial, Type A3	13
1849	c	PRV013	Periventricular Nodular Heterotopia 3	13
1850		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	13
1851		CXR001	Coxoauricular Syndrome	13
1852		APV001	Aapoaiv Amyloidosis	13
1853		CND008	Condensing Osteitis of the Clavicle	13
1854		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	13
1855	c	INF083	Inflammatory Bowel Disease 24	13
1856	c	INF084	Inflammatory Bowel Disease 26	13
1857	c	INF082	Inflammatory Bowel Disease 23	13
1858	c	INF085	Inflammatory Bowel Disease 27	13
1859	c	INF074	Inflammatory Bowel Disease 15	13
1860	c	INF081	Inflammatory Bowel Disease 22	13
1861		BCP001	Bicipital Tenosynovitis	13
1862		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	13
1863		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	13
1864	c	ACR046	Acropectorovertebral Dysplasia F Form	13
1865		ACR027	Acrodysplasia Scoliosis	13
1866		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	13
1867		TRM018	Traumatic Avascular Necrosis	13
1868		ACH028	Acheiria	13
1869	c	OTS009	Otosclerosis 5	13
1870		TRC112	Trochlea of the Humerus, Aplasia of	13
1871		HND012	Handigodu Joint Disease	13
1872		TRP023	Triphalangeal Thumbs and Dislocation of Patella	12
1873		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	12
1874	c	HLL012	Hallermann-Streiff-Like Syndrome	12
1875	c	ACQ036	Acquired Angioedema Type 2	12
1876	c	MXD037	Mixed Cryoglobulinemia Type Iii	12
1877	c	SYS048	Systemic Lupus Erythematosus 8	12
1878	c	SYS067	Systemic Lupus Erythematosus 15	12
1879	c	SCL058	Scoliosis, Isolated 2	12
1880	c	SYS052	Systemic Lupus Erythematosus 13	12
1881	c	SYS045	Systemic Lupus Erythematosus 14	12
1882		VRN007	Variant Abeta2m Amyloidosis	12
1883		CRN204	Craniofacial Conodysplasia	12
1884	c	PRM222	Primary Polyarteritis Nodosa	12
1885		ISC019	Ischiovertebral Syndrome	12
1886		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	12
1887	c	B3G001	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	12
1888		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	12
1889		IGG010	Igg4-Related Aortitis	12
1890	c	INF052	Infantile Scoliosis	12
1891		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	12
1892		IDP040	Idiopathic Eosinophilic Myositis	12
1893		SYM014	Symbrachydactyly of Hands and Feet	11
1894		FBR007	Fibroosseous Pseudotumor of Digits	11
1895	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	11
1896	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	11
1897		CRN087	Craniomicromelic Syndrome	11
1898	c	ANT021	Anterior Foramen Magnum Meningioma	11
1899		BST002	Baastrup's Syndrome	11
1900		PRM233	Primary Cutaneous Plasmacytosis	11
1901	c	GM2001	Gm2 Gangliosidosis, 0 Variant	11
1902		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	11
1903		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	11
1904		CLV001	Clivus Chondroid Chordoma	11
1905		ULN014	Ulnar Hemimelia	10
1906		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	10
1907		PTT005	Pituitary Stalk Meningioma	10
1908	c	SYN050	Syndactyly Type 6	10
1909	c	SCL059	Scoliosis, Isolated 4	10
1910	c	SCL060	Scoliosis, Isolated 5	10
1911		9Q3002	9q33.3q34.11 Microdeletion Syndrome	10
1912		ORB001	Orbit Alveolar Rhabdomyosarcoma	10
1913		HMR042	Humero-Ulnar Synostosis	10
1914		ALC030	Alect2 Amyloidosis	10
1915		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
1916		GLS016	Glossopalatine Ankylosis	10
1917		HRD208	Hereditary Angioedema with C1inh Deficiency	10
1918	c	EHL090	Ehlers-Danlos Syndrome Type 7b	10
1919		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1920	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	10
1921		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	10
1922		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	10
1923		CNG277	Congenital Pseudoarthrosis of the Fibula	9
1924	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	9
1925		SCR036	Sacrum Chordoma	9
1926	P	RBN007	Rubinstein Taybi Like Syndrome	9
1927		CNG279	Congenital Pseudoarthrosis of the Ulna	9
1928		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1929		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	9
1930	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	9
1931	c	ZYG007	Zygodactyly Type 3	9
1932		SMP006	Simple Cryoglobulinemia	8
1933	c	ACQ035	Acquired Angioedema Type 1	8
1934		BHC001	Behcet's Syndrome Arthropathy	8
1935		DBR003	Dobrow Syndrome	8
1936		CNG283	Congenital Pseudoarthrosis of the Femur	8
1937		BNL004	Benallegue Lacete Syndrome	8
1938		VRL016	Verloove Vanhorick Brubakk Syndrome	8
1939		AML037	Amelia of Upper Limb	8
1940		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	8
1941		PRN048	Prenatal Benign Hypophosphatasia	8
1942		CNG278	Congenital Pseudoarthrosis of the Radius	8
1943	c	ALP056	Alpha-Mannosidosis, Adult Form	8
1944	c	ALP055	Alpha-Mannosidosis, Infantile Form	8
1945		MLH001	Melhem Fahl Syndrome	8
1946	c	ZYG006	Zygodactyly Type 2	8
1947		LWR003	Lower Clivus Meningioma	8
1948		APD003	Apodia	8
1949	c	SCN055	Secondary Polyarteritis Nodosa	8
1950	c	PST023	Posterior Foramen Magnum Meningioma	8
1951	c	CRB078	Cerebrocostomandibular-Like Syndrome	8
1952		CLC050	Calciphylaxis Cutis	8
1953		OKH001	Okihiro Syndrome Due to a Point Mutation	8
1954	c	PRD018	Periodontitis, Aggressive, 2	8
1955		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	7
1956		BPR001	Bipartite Talus	7
1957	c	CNG348	Congenital Sialidosis Type 2	7
1958	c	TRN008	Transient Arthropathy	7
1959	P	JVN036	Juvenile Sialidosis Type 2	7
1960		SPH002	Sphenocavernous Meningioma	7
1961	c	JVN030	Juvenile Overlap Myositis	7
1962		TBF001	Tibio-Fibular Synostosis	7
1963		SNG013	Single-Organ Polyarteritis Nodosa	7
1964	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	7
1965		UPP001	Upper Clivus Meningioma	7
1966		HMR031	Humeral Agenesis/hypoplasia	7
1967		HYP500	Hyperphalangy, Unilateral	7
1968	c	CRN093	Craniosynostosis Autosomal Dominant	7
1969		RNN007	Reunion Island Larsen-Like Syndrome	7
1970	c	ZYG005	Zygodactyly Type 4	7
1971		ACR100	Acrofacial Dysostosis, Patagonia Type	6
1972		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
1973		CNG289	Congenital Absence/hypoplasia of Thumb	6
1974		PHL011	Phalanx Chondroma	6
1975		HYP501	Hyperphalangy, Bilateral	6
1976		CNG287	Congenital Absence of Both Forearm and Hand	6
1977	c	MLT004	Multiple Skull Base Meningioma	6
1978	c	OTS004	Otosclerosis, Familial	6
1979		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1980		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
1981		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
1982		NNT045	Neonatal Autoimmune Hemolytic Anemia	6
1983		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
1984		HYP010	Hypermobility of Coccyx	6
1985	c	OCL037	Oculodentodigital Dysplasia Dominant	6
1986	c	HYD017	Hydrocephalus Autosomal Recessive	6
1987		SVR046	Severe Lateral Tibial Bowing with Short Stature	6
1988		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1989		HMR037	Humero-Ulnar Synostosis, Bilateral	6
1990		TRG018	Trigonocephaly-Broad Thumbs Syndrome	6
1991		ISL026	Isolated Sternocostoclavicular Hyperostosis	6
1992		RDL020	Radio-Ulnar Synostosis, Bilateral	6
1993		HMR036	Humero-Ulnar Synostosis, Unilateral	6
1994		ACQ052	Acquired Angioedema with C1inh Deficiency	6
1995		RDL019	Radio-Ulnar Synostosis, Unilateral	6
1996	P	SYC001	Say Carpenter Syndrome	5
1997		UNS002	Unspecified Juvenile Idiopathic Arthritis	5
1998		MDL017	Madelung Deformity, Bilateral	5
1999		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
2000	c	ANG069	Angpt1-Related Hereditary Angioedema with Normal C1inh	5
2001		CHR512	Cheirospondyloenchondromatosis	5
2002		DYS128	Dysplasia of Head of Femur, Meyer Type	5
2003		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
2004		MDL018	Madelung Deformity, Unilateral	5
2005		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
2006		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
2007		CNG391	Congenital Pseudoarthrosis of the Limbs	5
2008	c	PLG011	Plg-Related Hereditary Angioedema with Normal C1inh	5
2009		GNC002	Gonococcal Bursitis	5
2010		AML036	Amelia of Lower Limb	5
2011	P	LGB001	Leg Absence Deformity Cataract	4
2012		SPN339	Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	4
2013		SCN050	Secondary Non-Traumatic Avascular Necrosis	4
2014		GNC006	Gonococcal Spondylitis	4
2015		LM5001	Lama5-Related Multisystemic Syndrome	4
2016		TNS002	Tenosynovitis of Foot and Ankle	4
2017		OVR117	Overgrowth Syndrome with 2q37 Translocation	4
2018		VSC036	Visceral Calciphylaxis	4
2019	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	3
2020		MDF001	Midface Dysplasia	3
2021	c	CXV001	Coxa Vara, Congenital	3
2022		SHW005	Shwachman-Diamond Type Metaphyseal Dysplasia	3
2023		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	3
2024		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	23
2025		CRD221	Cardiospondylocarpofacial Syndrome	38
2026		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	59
2027		BKS003	Beukes Hip Dysplasia	30
2028		OST141	Osteoclastic Giant Cell Tumor of Pancreas	16
2029		THM023	Thiemann Disease	21
2030		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	32
2031	P	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	23
2032	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	20
2033	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	25
2034		OST150	Osteodysplasia, Familial, Anderson Type	17
2035		ECT103	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	18
2036	P	DNT011	Dentinogenesis Imperfecta	46
2037		THR009	Thrombocytopenia-Absent Radius Syndrome	45
2038	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	44
2039		IFP001	Ifap Syndrome with or Without Bresheck Syndrome	42
2040		CRP001	Carpal Tunnel Syndrome	71
2041		RCK004	Rickets	66
2042	P	HRD021	Hereditary Sensory Neuropathy	50
2043	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	43
2044