Bone Diseases Category (3027 diseases)

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

#	Family	MCID	Name	MIFTS
1		GRH001	Gorham's Disease	40
2	c	HRD104	Hereditary Multiple Osteochondromas	43
3		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	27
4		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	17
5	c	BNM010	Bone Marrow Failure Syndrome 1	37
6		TRC115	Tracheopathia Osteoplastica	30
7		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	22
8		ANT003	Antley-Bixler Syndrome	50
9		DNT050	Dentin Dysplasia with Sclerotic Bones	14
10		WNC001	Winchester Syndrome	44
11		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	19
12		BMR004	Beemer Lethal Malformation Syndrome	19
13		RHY001	Rhyns Syndrome	42
14		QZM001	Qazi Markouizos Syndrome	19
15		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	7
16		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	5
17		STR088	Stratton-Parker Syndrome	21
18		FLT006	Floating-Harbor Syndrome	52
19		BRS030	Breast Osteosarcoma	32
20		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	25
21		SKL033	Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age	22
22		NVC001	Navicular Bone, Accessory	17
23	P	OST028	Osteochondroma	44
24		PRM206	Premature Aging Syndrome, Penttinen Type	33
25		SKL003	Skeletal Muscle Cancer	31
26		OST172	Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits	17
27		FRN047	Frontonasal Dysplasia with Alar Clefts	14
28		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	11
29	P	SHR126	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2	24
30	c	SHR125	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1	22
31		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	19
32		CHN004	Chondroblastoma	41
33		AMD002	Amed Syndrome, Digenic	36
34	c	BNM032	Bone Marrow Failure Syndrome 4	24
35		PRM288	Permanent Molars, Secondary Retention of	23
36		FRB005	Freiberg's Disease	13
37	P	CNT116	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a	54
38	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	35
39	c	BNM013	Bone Marrow Failure Syndrome 3	27
40	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	26
41		CL1007	Col1a1/2 Osteogenesis Imperfecta	25
42	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	24
43	c	GLY108	Glycosylphosphatidylinositol Biosynthesis Defect 18	23
44	c	CNT117	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b	23
45	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	21
46	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	20
47		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	17
48		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	17
49		LSS034	Lissencephaly Type Iii and Bone Dysplasia	16
50		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	14
51		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	13
52		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	13
53		OST146	Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome	12
54		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	11
55		DST098	Distal Osteosclerosis	10
56		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	10
57		OST156	Osteosclerosis with Ichthyosis and Fractures	9
58		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	8
59		PRR038	Pierre Robin Syndrome Associated with Bone Disease	5
60		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
61		RRG037	Rare Genetic Bone Development Disorder	5
62		WDM002	Wiedemann Oldigs Oppermann Syndrome	4
63		OST175	Osteonecrosis of Genetic Origin	4
64		FLM004	Filamin-Related Bone Disorder	4
65		CRN049	Craniolenticulosutural Dysplasia	43
66	c	MYF007	Myofibromatosis, Infantile, 1	37
67		OST160	Osteoid Osteoma	37
68		CPL004	Caplan's Syndrome	32
69		CHN070	Cohen-Gibson Syndrome	29
70		SPR031	Sprengel Deformity	28
71		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	27
72		SHR119	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	21
73		INT362	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	21
74	P	CMB108	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1	20
75		TLC002	Tolchin-Le Caignec Syndrome	20
76	c	CMB109	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2	19
77		BZR002	Bizarre Parosteal Osteochondromatous Proliferation	15
78		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	11
79		CHR633	Choroidal Osteoma, Bilateral	10
80		ALG005	Al Gazali Sabrinathan Nair Syndrome	5
81		BTT012	Battaglia-Neri Syndrome	5
82	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	55
83	P	NLD001	Nail Disease	52
84		HYP017	Hypophosphatemia	49
85	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	45
86		MCP033	Mucopolysaccharidoses	44
87		SYN031	Synovial Chondromatosis	42
88	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	40
89		RHM014	Rheumatoid Vasculitis	36
90	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	36
91	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	35
92	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	33
93	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	32
94	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	30
95		RHM013	Rheumatoid Nodulosis	29
96	P	INC035	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3	26
97		SPC025	Specific Granule Deficiency 2	24
98		CMP076	Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases	22
99	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	22
100	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	22
101		XLN249	X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	21
102	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	18
103	c	NNS071	Nonsyndromic Congenital Nail Disorder	18
104		INT346	Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies	17
105		VND003	Van Den Bosch Syndrome	16
106	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	16
107	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	15
108		RCH003	Richieri Costa Da Silva Syndrome	14
109		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	13
110		HKF001	Ho Kaufman Mcalister Syndrome	6
111	P	SYP003	Syphilis	59
112	P	INF049	Infantile Myofibromatosis	55
113		MCR165	Microphthalmia with Limb Anomalies	53
114	P	CLL015	Collagen Disease	47
115		TRC097	Tracheomalacia	43
116		PGM007	Pigmented Paravenous Chorioretinal Atrophy	42
117		EST007	Estrogen Resistance	41
118	c	CNG033	Congenital Syphilis	39
119	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	38
120		KSH004	Kashin-Beck Disease	37
121	c	SCN006	Secondary Syphilis	36
122	c	LTC001	Late Congenital Syphilis	34
123		VRT016	Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction	34
124		ACR062	Acroosteolysis	33
125	c	ERL002	Early Congenital Syphilis	32
126		SLT001	Solitary Osseous Plasmacytoma	32
127	c	PRM022	Primary Syphilis	32
128		RHM008	Rheumatic Myocarditis	31
129	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
130		TRN004	Trench Fever	28
131	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	28
132		WDW001	Widow's Peak	28
133		TRS030	Tarsal Coalition	25
134		OST008	Osteosclerotic Myeloma	23
135		HYP754	Hypophosphatemic Bone Disease	22
136		AFR001	African Histoplasmosis	22
137		BSL042	Basilar Impression, Primary	21
138	c	TYP042	Type Ii Collagen Disorders	21
139	c	MYF010	Myofibromatosis, Infantile, 2	21
140		RBB001	Ribbing Disease	20
141		PRT108	Puerto Rican Infant Hypotonia Syndrome	19
142	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	19
143		HDZ001	Hadziselimovic Syndrome	19
144		BNL001	Bone Leiomyosarcoma	18
145		ELS005	Elastoma	18
146		PLY028	Polycystic Bone Disease	17
147		VLF001	Velofacioskeletal Syndrome	15
148	P	SPN300	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	15
149		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	14
150		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	14
151		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	14
152		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	13
153		CLB032	Coloboma of Macula and Skeletal Anomalies	13
154		BLN021	Blount Disease, Adolescent	13
155		VNB002	Van Bogaert-Hozay Syndrome	13
156		PRM291	Premature Aging Syndrome, Okamoto Type	12
157		GLB019	Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	12
158		SKL024	Skeletal-Extraskeletal Angiomatosis	12
159		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	11
160		ANP010	Anaplastic Plasmacytoma	11
161		EXP005	Expansile Bone Lesions	11
162		ISL032	Isolated Bone Marrow Mastocytosis	11
163		THN012	Thanatophoric Dysplasia, Glasgow Variant	10
164		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	10
165		SST002	Sost-Related Sclerosing Bone Dysplasias	10
166		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	10
167		NSL024	Nasal Bones, Absence of	9
168		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	9
169		MGR005	Megarbane Syndrome	9
170		OST162	Osteomalacia, Sclerosing, with Cerebral Calcification	9
171		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	8
172		PNS013	Panostotic Fibrous Dysplasia	8
173	P	BNS005	Bone Size Quantitative Trait Locus 1	8
174		PBC001	Pubic Bone Dysplasia	8
175		OST161	Osteoma of Middle Ear	8
176		SKL009	Skeletal Dysplasia, San Diego Type	7
177		CTK001	Cote Katsantoni Syndrome	7
178		BNP003	Bone Pain, Periodic	7
179		FYP001	Faye-Petersen-Ward-Carey Syndrome	7
180		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	6
181	c	BNS006	Bone Size Quantitative Trait Locus 2	6
182		SLV009	Slavotinek Pike Mills Hurst Syndrome	6
183		OST155	Osteomas of Mandible	6
184		GNT125	Genetic Skeletal Muscle Disease	6
185		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
186		CRN080	Craniofacial and Skeletal Defects	5
187		PNT008	Pointer Syndrome	5
188		THD001	Theodor Hertz Goodman Syndrome	5
189		PRM165	Primary Plasmacytoma of the Bone	5
190		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
191		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	4
192		CHT003	Chitty Hall Webb Syndrome	4
193		HYD022	Hydrocephalus Skeletal Anomalies	4
194		KZL005	Kozlowski Warren Fisher Syndrome	4
195	c	ACQ057	Acquired Skeletal Muscle Disease	4
196		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	4
197		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	4
198		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	4
199		SND004	Sandhaus Ben-Ami Syndrome	4
200		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
201		VGN025	Vagneur Triolle Ripert Syndrome	3
202		GNT079	Genetic Bone Tumor	3
203		AGG010	Aggrecan-Related Bone Disorder	3
204		OST174	Osteochondrosis of Genetic Origin	3
205	P	TYP045	Type 2 Collagen-Related Bone Disorder	3
206	c	TYP046	Type 11 Collagen-Related Bone Disorder	3
207		SLF019	Sulfation-Related Bone Disorder	3
208		PRL050	Perlecan-Related Bone Disorder	3
209		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	3
210		BND005	Bone Dysplasia Azouz Type	2
211		BND006	Bone Dysplasia Corpus Callosum Agenesis	2
212		BND008	Bone Dysplasia Moore Type	2
213		BRT025	Brittle Bone Syndrome Lethal Type	2
214		CTR016	Cataract Skeletal Anomalies	2
215		DWR006	Dwarfism Lethal Type Advanced Bone Age	2
216		GGN003	Gigantism Advanced Bone Age Hoarse Cry	2
217		OCL029	Oculo Skeletal Renal Syndrome	2
218		CRP008	Carpo Tarsal Osteolysis Recessive	1
219		CTS007	Cutis Laxa Osteoporosis	1
220		DWR010	Dwarfism Thin Bones Multiple Fractures	1
221		PRR012	Pierre Robin Syndrome Skeletal Dysplasia Polydactyly	1
222		PST038	Positive Rheumatoid Factor Polyarthritis	1
223		BRT054	Brittle Bone Disorder	74
224		HYL004	Hyaline Fibromatosis Syndrome	67
225	P	SHW006	Shwachman-Diamond Syndrome 1	65
226		MVL001	Mevalonic Aciduria	65
227		CNC002	Cinca Syndrome	65
228	P	CMP005	Campomelic Dysplasia	65
229	P	LYS001	Loeys-Dietz Syndrome	65
230		RCK004	Rickets	64
231		CHR619	Chromosome 2q35 Duplication Syndrome	64
232		GRG001	Greig Cephalopolysyndactyly Syndrome	64
233		MLT092	Multicentric Carpotarsal Osteolysis Syndrome	63
234	P	CRN038	Carney Complex Variant	63
235	P	LPS004	Lupus Erythematosus	61
236	P	DRM010	Dermatomyositis	61
237		CRT002	Cartilage-Hair Hypoplasia	60
238	P	ART023	Arthropathy	59
239	P	TRC086	Trichohepatoenteric Syndrome 1	59
240		ADL030	Adult-Onset Still's Disease	59
241		SPN027	Spinal Stenosis	58
242	P	CLS054	Classic Ehlers-Danlos Syndrome	57
243	P	EHL001	Ehlers-Danlos Syndrome	57
244	P	RHN004	Rhinitis	56
245		CHR072	Chordoma	56
246	c	BRC078	Brachydactyly, Type A1	56
247		MLT134	Multiple Pterygium Syndrome, Lethal Type	56
248		EPP024	Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus	55
249	P	FBR025	Fibrochondrogenesis	55
250	P	AGG001	Aggressive Periodontitis	55
251		RLP001	Relapsing Polychondritis	55
252	c	OST163	Osteopetrosis, Autosomal Recessive 3	54
253	c	LTH007	Lethal Congenital Contracture Syndrome 1	53
254	c	FNC025	Fanconi Anemia, Complementation Group J	52
255	P	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	52
256		STV003	Stuve-Wiedemann Syndrome	52
257		SPN019	Spondylolisthesis	51
258		SPN051	Spondylitis	51
259	c	OST126	Osteopetrosis, Autosomal Recessive 1	51
260		ANK001	Ankylosis	50
261	c	OST120	Osteopetrosis, Autosomal Recessive 5	50
262		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	49
263		ACR058	Acrofacial Dysostosis 1, Nager Type	49
264		DGN001	Degenerative Disc Disease	48
265		CNT056	Cantu Syndrome	48
266		SHR098	Short-Rib Thoracic Dysplasia 12	48
267		ASP005	Asphyxiating Thoracic Dystrophy	47
268	c	PRD039	Periodontitis, Aggressive, 1	47
269		ANK017	Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate	46
270	c	CHR048	Chronic Rhinitis	46
271	P	PRD037	Periodontal Ehlers-Danlos Syndrome	45
272		TRS002	Tarsal-Carpal Coalition Syndrome	44
273		PLN005	Palindromic Rheumatism	44
274		HMR002	Hemarthrosis	43
275	c	SPL024	Split-Hand/foot Malformation 3	43
276		EPC002	Epicondylitis	43
277		SPN369	Spinal Disease	43
278	c	JVN003	Juvenile Xanthogranuloma	43
279		SYN005	Synostosis	43
280	P	CHN044	Chondrodysplasia Punctata Syndrome	43
281	P	BNG095	Benign Giant Cell Tumor	43
282		CHN010	Chondroma	43
283	P	SHR085	Short-Rib Thoracic Dysplasia 14 with Polydactyly	42
284		ISL121	Isolated Split Hand-Split Foot Malformation	42
285		ORB013	Orbital Disease	42
286	c	CNG023	Congenital Fibrosarcoma	42
287		VLL003	Villonodular Synovitis	41
288		PRK003	Parkes Weber Syndrome	41
289		IDP070	Idiopathic Scoliosis	41
290	P	AVS003	Avascular Necrosis	41
291		PRS037	Periostitis	40
292		OCH001	Ochronosis	40
293		ENP001	Enophthalmos	40
294		49X006	49, Xxxxy Syndrome	40
295		SPN029	Spondylolysis	39
296	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	39
297	P	OMD003	Omodysplasia	38
298	P	PLY187	Polyarticular Juvenile Idiopathic Arthritis	38
299		SLP010	Slipped Capital Femoral Epiphysis	38
300	c	INF161	Inflammatory Bowel Disease 28	38
301	P	NNT042	Neonatal Lupus Erythematosus	38
302		CHN011	Chondromalacia	38
303		PSR016	Psoriatic Juvenile Idiopathic Arthritis	38
304	c	FNC056	Fanconi Anemia, Complementation Group V	38
305		RHM035	Rheumatic Fever-Related Antigen	37
306	P	MTP005	Metaphyseal Anadysplasia	37
307	P	ACR106	Acrocephalopolysyndactyly Type Iii	36
308		HMR015	Humeroradial Synostosis	36
309	P	YWS001	Yaws	36
310	P	SNG014	Singleton-Merten Syndrome	36
311		SHL001	Shoulder Impingement Syndrome	35
312		HYP007	Hypermobility Syndrome	35
313	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	35
314		PLC002	Plica Syndrome	35
315		SYS071	Systemic Autoimmune Disease	35
316	c	TRC078	Trichohepatoenteric Syndrome 2	35
317		NNT039	Neonatal Marfan Syndrome	34
318		ORB011	Orbit Rhabdomyosarcoma	34
319		PTL002	Patellofemoral Pain Syndrome	34
320	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	33
321		PRR001	Periarthritis	33
322		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	33
323		HYD003	Hydrarthrosis	33
324		ATM081	Autoimmune Disease, Multisystem, with Facial Dysmorphism	32
325		SPN036	Spinal Chordoma	32
326		ORB008	Orbital Plasma Cell Granuloma	32
327		PLS001	Pulsating Exophthalmos	32
328	c	TRN014	Transient Arthritis	32
329	c	ADL019	Adult Fibrosarcoma	31
330		END034	Endocrine Exophthalmos	31
331	c	PLY149	Polydactyly, Preaxial Iv	31
332		IDP041	Idiopathic Recurrent Pericarditis	31
333	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	30
334		ATN021	Autoinflammatory Syndrome	30
335		HLS001	Heel Spur	30
336	c	INF086	Inflammatory Bowel Disease 3	30
337		INF009	Inflammatory Spondylopathy	30
338		LMB003	Lumbosacral Lipoma	30
339		LWR019	Lowry-Wood Syndrome	29
340		UND007	Undifferentiated Connective Tissue Disease	29
341	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29
342		ORB010	Orbital Granuloma	29
343		TBR007	Tuberculum Sellae Meningioma	28
344		BCP001	Bicipital Tenosynovitis	28
345		ENC014	Enchondroma	28
346		MYC015	Mycobacterium Fortuitum	28
347	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	28
348		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	27
349		SPS090	Sepsis in Premature Infants	27
350		CTN019	Cutaneous Polyarteritis Nodosa	27
351		DVL021	Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities	26
352		BNG069	Benign Cephalic Histiocytosis	26
353		OLC001	Olecranon Bursitis	26
354		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	26
355		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	26
356	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	26
357		CHN009	Chondroid Chordoma	25
358	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	25
359		THY013	Thyrotoxic Exophthalmos	25
360		PRS016	Periosteal Chondrosarcoma	25
361		PRT043	Parietal Foramina with Cleidocranial Dysplasia	25
362	P	JVN059	Juvenile Ankylosing Spondylitis	25
363	P	CNG539	Congenital Disorder of Glycosylation with Defective Fucosylation 1	25
364		FBR010	Fibrogenesis Imperfecta Ossium	25
365	c	MRG012	Meier-Gorlin Syndrome 5	25
366		KLB005	Kleeblattschaedel	25
367		9Q2001	9q22.3 Microdeletion	24
368	c	WLL038	Weill-Marchesani Syndrome 3	24
369		ORB003	Orbital Tenonitis	24
370	c	SHR116	Short-Rib Thoracic Dysplasia 20 with Polydactyly	24
371	c	THR096	Three M Syndrome 3	24
372		ANN010	Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges	24
373		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	24
374		ACR101	Acrocraniofacial Dysostosis	23
375		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	23
376		FMR016	Femur-Fibula-Ulna Syndrome	23
377		WLD006	Wild Type Abeta2m Amyloidosis	23
378	P	ACT077	Acute Orbital Inflammation	23
379		TMP008	Tempi Syndrome	23
380		NVR001	Nievergelt Syndrome	23
381		ORB007	Orbital Cyst	23
382		IGG008	Igg4-Related Mesenteritis	23
383		KMM001	Kummell's Disease	23
384		RDL022	Radial Hemimelia	23
385		PRP090	Peripheral Dysostosis	22
386	c	ACR103	Acrofrontofacionasal Dysostosis 1	22
387		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	22
388	c	CHR093	Chronic Orbital Inflammation	22
389		BRN123	Branchial Arch Syndrome, X-Linked	22
390	c	NNT025	Neonatal Systemic Lupus Erythematosus	22
391		EXT003	Extraskeletal Mesenchymal Chondrosarcoma	21
392		PLV015	Pelvis-Shoulder Dysplasia	21
393		EF001	Eaf	21
394		BST002	Baastrup's Syndrome	21
395	c	CNG541	Congenital Disorder of Glycosylation with Defective Fucosylation 2	21
396	c	SYS038	Systemic Lupus Erythematosus 2	20
397		MND027	Mandibulofacial Dysostosis with Macroblepharon and Macrostomia	20
398		FBR091	Fibroblastic Rheumatism	20
399		SPL055	Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts	19
400		SPN349	Spondylometaphyseal Dysplasia, Type A4	19
401	c	ACR108	Acrocephalopolysyndactyly Type Iv	19
402		ULN014	Ulnar Hemimelia	19
403	c	CRN298	Carney Complex, Type 2	19
404		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	19
405	c	PRM150	Primary Localized Amyloidosis	18
406		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18
407		CRY024	Crystal Arthropathies	18
408		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	18
409	c	SYS041	Systemic Lupus Erythematosus 9	18
410		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	18
411		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	17
412		INT182	Intermittent Hydrarthrosis	17
413	c	JVN045	Juvenile Ossifying Fibroma	17
414		MTT004	Metatarsus Adductus	17
415		OTN001	Otoonychoperoneal Syndrome	17
416		TYP044	Type 1 Interferonopathy	17
417		BRC096	Brachydactyly-Distal Symphalangism Syndrome	16
418		DYS180	Dyschondrosteosis and Nephritis	16
419		BRC114	Brachyolmia Type 1, Hobaek Type	16
420		CND008	Condensing Osteitis of the Clavicle	16
421		SCR036	Sacrum Chordoma	16
422		CTN031	Cutaneous Pseudolymphoma	16
423		DYS049	Dysplastic Cortical Hyperostosis	16
424		GNC010	Genochondromatosis	16
425	c	SPN226	Spondyloarthropathy 2	16
426		APV001	Aapoaiv Amyloidosis	16
427		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	16
428		AST010	Astley-Kendall Syndrome	15
429		CMP016	Camptobrachydactyly	15
430		HYP497	Hyperphalangy	15
431	c	PRT255	Proteasome-Associated Autoinflammatory Syndrome 4	14
432		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	14
433		ADC008	Adactylia, Unilateral	14
434	c	SX2003	Six2-Related Frontonasal Dysplasia	14
435	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	14
436		INT026	Intermittent Proptosis	14
437		MGP001	Megaepiphyseal Dwarfism	14
438		CNG529	Congenital Femoral Deficiency	14
439		TRM018	Traumatic Avascular Necrosis	14
440	c	LTH052	Lethal Recessive Chondrodysplasia	13
441		KLL015	Kallmann Syndrome with Spastic Paraplegia	13
442		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	13
443	c	CLD018	Cleidocranial Dysplasia, Recessive Form	13
444		ALC030	Alect2 Amyloidosis	12
445		PST104	Postaxial Oligodactyly, Tetramelic	12
446		CRN204	Craniofacial Conodysplasia	12
447		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	11
448		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	11
449		FBR007	Fibroosseous Pseudotumor of Digits	11
450		GLS016	Glossopalatine Ankylosis	11
451		CHN047	Chondroectodermal Dysplasia with Night Blindness	11
452	c	INF052	Infantile Scoliosis	11
453		MDF001	Midface Dysplasia	11
454		HMN007	Hemangioma of Orbit	11
455		PRM233	Primary Cutaneous Plasmacytosis	11
456	c	SCN055	Secondary Polyarteritis Nodosa	10
457		CNG279	Congenital Pseudoarthrosis of the Ulna	10
458		NNT045	Neonatal Autoimmune Hemolytic Anemia	10
459	c	ANK022	Ankylosing Spondylitis 2	9
460		CNG278	Congenital Pseudoarthrosis of the Radius	9
461		APD003	Apodia	9
462		SPH002	Sphenocavernous Meningioma	8
463	c	KLP015	Klippel-Feil Syndrome 4	8
464		ORB001	Orbit Alveolar Rhabdomyosarcoma	8
465		OVR125	Overlapping Connective Tissue Disease	8
466		ORB005	Orbital Periostitis	8
467		HRD208	Hereditary Angioedema with C1inh Deficiency	8
468	c	TRN008	Transient Arthropathy	7
469		HYP010	Hypermobility of Coccyx	7
470	c	SCN080	Secondary Avascular Necrosis	7
471	c	PRD018	Periodontitis, Aggressive, 2	7
472	c	VTM037	Vitamin D-Dependent Rickets Type 2b	7
473	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
474	c	MLT004	Multiple Skull Base Meningioma	7
475		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	7
476	c	PRM325	Primary Avascular Necrosis	7
477	c	ACQ035	Acquired Angioedema Type 1	7
478	c	ADL005	Adult Mesenchymal Chondrosarcoma	7
479		ISL026	Isolated Sternocostoclavicular Hyperostosis	7
480		BPR001	Bipartite Talus	7
481		NNS054	Non-Syndromic Postaxial Polydactyly	7
482		NNS059	Non-Syndromic Limb Reduction Defect	6
483		MTP038	Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome	6
484		BHC001	Behcet's Syndrome Arthropathy	6
485		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	6
486		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	6
487		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	6
488		HST025	Histone Mutated Tumor	5
489		CHR512	Cheirospondyloenchondromatosis	5
490	c	PRX100	Proximal Symphalangism 2	5
491		UNS002	Unspecified Juvenile Idiopathic Arthritis	5
492		ACR100	Acrofacial Dysostosis, Patagonia Type	5
493		CRT088	Car T Cell Therapy-Associated Cytokine Release Syndrome	5
494		GNC002	Gonococcal Bursitis	5
495		PDT005	Pediatric Mesenchymal Chondrosarcoma	5
496		SPN437	Spondylodysplastic Dysplasia	5
497		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	4
498		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	4
499		SYN118	Syndrome with Limb Reduction Defects	4
500		HMR036	Humero-Ulnar Synostosis, Unilateral	4
501		HMR037	Humero-Ulnar Synostosis, Bilateral	4
502	c	PLG011	Plg-Related Hereditary Angioedema with Normal C1inh	4
503		CNS003	Constant Exophthalmos	4
504		SPC002	Specific Bursitis Often of Occupational Origin	4
505		GNC006	Gonococcal Spondylitis	4
506		UNC023	Unclassified Autoinflammatory Syndrome	4
507		SCN081	Secondary Neonatal Autoimmune Disease	4
508		TNS002	Tenosynovitis of Foot and Ankle	3
509		DYS209	Dysostosis with Predominant Vertebral and Costal Involvement	3
510		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	3
511	c	RRH025	Rare Hereditary Disease with Avascular Necrosis	3
512		DYS201	Dysostosis with Limb and Face Anomalies As a Major Feature	3
513		DYS203	Dysostosis with Combined Reduction Defects of Upper and Lower Limbs	3
514		DYS206	Dysostosis with Brachydactyly with Extraskeletal Manifestations	3
515		PTL012	Patellar Dysostosis	3
516		DYS210	Dysostosis with Predominant Craniofacial Involvement	3
517	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	2
518	c	ADL028	Adult Extraosseous Chondrosarcoma	2
519		MXD047	Mixed Autoinflammatory and Autoimmune Syndrome	2
520		OST141	Osteoclastic Giant Cell Tumor of Pancreas	18
521		CRD221	Cardiospondylocarpofacial Syndrome	43
522	c	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	43
523	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	34
524		DFN309	Deafness, Conductive, with Ptosis and Skeletal Anomalies	16
525		LRY012	Laryngeal Cartilage Cancer	7
526	c	BNM011	Bone Marrow Failure Syndrome 2	24
527	P	DNT011	Dentinogenesis Imperfecta	51
528	c	PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	34
529		KDN010	Kidney Osteogenic Sarcoma	12
530	c	RRD009	Rare Disease with Dentinogenesis Imperfecta	4
531		RNL011	Renal Osteodystrophy	48
532		GRN034	Grange Syndrome	35
533		BNG005	Bone Giant Cell Sarcoma	32
534	P	HYP868	Hypophosphatemic Nephrolithiasis/osteoporosis	20
535		ARM001	Aromatase Deficiency	54
536		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	23
537	c	DNT025	Dentinogenesis Imperfecta 1	33
538		RHM036	Rheumatoid Arthritis Interstitial Lung Disease	31
539		WRN001	Werner Syndrome	69
540		ALK013	Alkaptonuria	58
541	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	48
542	P	HRD021	Hereditary Sensory Neuropathy	48
543	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	41
544	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	39
545	P	INH011	Inherited Bone Marrow Failure Syndromes	33
546	c	NRP036	Neuropathy, Hereditary Sensory, Type if	33
547		SKL002	Skeletal Muscle Neoplasm	25
548	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
549		ANP015	Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies	14
550		CSF006	Csf1r-Related Brain Malformation and Osteopetrosis	10
551		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	4
552		SRC014	Sarcoma	64
553		CNT105	Central Core Disease of Muscle	59
554	P	PLG001	Pelger-Huet Anomaly	51
555		CHR635	Chromosome 5q Deletion Syndrome	50
556	P	SKL032	Skeletal Muscle Disease	25
557		NRD083	Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies	24
558		NRD072	Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities	22
559	c	BNM033	Bone Marrow Failure Syndrome 5	22
560		MYP160	Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures	18
561	c	PSD024	Pseudo Pelger-Huet Anomaly	13
562	P	MSC005	Muscular Dystrophy	66
563	P	NTR004	Neutropenia	62
564	c	SVR003	Severe Congenital Neutropenia	59
565	P	MYT023	Myotonia Congenita	55
566		BTT016	Batten-Turner Congenital Myopathy	54
567	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	51
568	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	38
569	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	38
570	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	37
571	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	36
572	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	34
573	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	28
574	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	27
575	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	26
576	c	INC033	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2	26
577	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	26
578		BNM005	Bone Marrow Necrosis	25
579		CLB033	Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness	24
580		CRN070	Corneodermatoosseous Syndrome	21
581	c	NTR045	Neutropenia, Chronic Familial	21
582	c	INC034	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1	21
583	c	SVR107	Severe Congenital Neutropenia 3	20
584		MCR307	Microspherophakia-Metaphyseal Dysplasia	20
585	c	SVR103	Severe Congenital Neutropenia 1	20
586	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	18
587	c	BNM034	Bone Marrow Failure Syndrome 6	18
588	c	SVR110	Severe Congenital Neutropenia 4	16
589	c	SVR106	Severe Congenital Neutropenia 5	14
590	c	ELN001	Elane-Related Neutropenia	14
591	c	ACQ053	Acquired Neutropenia	12
592		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	12
593	c	SVR109	Severe Congenital Neutropenia 8	11
594	c	SVR105	Severe Congenital Neutropenia 2	10
595	c	SVR108	Severe Congenital Neutropenia 6	9
596	c	SVR104	Severe Congenital Neutropenia 7	8
597	P	DMN001	Diamond-Blackfan Anemia	73
598	c	DMN023	Diamond-Blackfan Anemia 1	68
599	P	DYS007	Dyskeratosis Congenita	66
600	P	MLG056	Malignant Hyperthermia	65
601	P	EMR001	Emery-Dreifuss Muscular Dystrophy	62
602		WHM001	Whim Syndrome	60
603		NNK001	Nonaka Myopathy	58
604	P	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	57
605	c	EMR018	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	54
606		AGN012	Agnathia-Otocephaly Complex	52
607	P	MSC003	Muscular Atrophy	52
608	P	MYP087	Myopathy, Tubular Aggregate, 1	49
609	P	FNC026	Fanconi Renotubular Syndrome 1	49
610		HYR002	Hoyeraal Hreidarsson Syndrome	49
611	c	THR071	Thrombocytopenia 1	48
612		MYP100	Myopathy, X-Linked, with Excessive Autophagy	48
613		MYT030	Myotonia, Potassium-Aggravated	48
614	c	MLG147	Malignant Hyperthermia 1	47
615	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	45
616	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	45
617	c	EMR020	Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	44
618	P	RPP006	Rippling Muscle Disease 2	44
619	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	43
620	c	DMN018	Diamond-Blackfan Anemia 5	42
621	c	MYT029	Myotonia Congenita, Autosomal Recessive	41
622	c	PRG001	Progressive Muscular Atrophy	41
623		SPR126	Superior Semicircular Canal Dehiscence	41
624	c	EMR015	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	41
625	c	PRM225	Primary Thrombocytopenia	41
626	c	EMR014	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	40
627	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	40
628	c	DMN006	Diamond-Blackfan Anemia 3	39
629	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	39
630	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	39
631	c	DMN021	Diamond-Blackfan Anemia 6	38
632		VRH001	Verheij Syndrome	37
633		3MC001	3mc Syndrome 2	37
634	c	THR037	Thrombocytopenia 2	36
635	c	DMN017	Diamond-Blackfan Anemia 10	36
636	c	ACQ005	Acquired Thrombocytopenia	36
637	c	THR111	Thrombocytopenia 3	35
638	c	DNT047	Dentinogenesis Imperfecta Type 2	35
639	c	DYS039	Dyskeratosis Congenita Autosomal Dominant	34
640	c	EMR019	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	33
641	c	FNC034	Fanconi Renotubular Syndrome 2	33
642	c	DMN049	Diamond-Blackfan Anemia 20	31
643	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	30
644	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	29
645	c	MYP088	Myopathy, Tubular Aggregate, 2	29
646	c	THR102	Thrombocytopenia 5	29
647	c	MLG151	Malignant Hyperthermia 5	29
648	c	DMN022	Diamond-Blackfan Anemia 9	28
649	c	THR048	Thrombocytopenia 4	28
650	c	DMN005	Diamond-Blackfan Anemia 2	28
651	c	DMN024	Diamond-Blackfan Anemia 7	27
652	c	DMN019	Diamond-Blackfan Anemia 4	26
653		DCK002	Dock8 Immunodeficiency Syndrome	26
654		SHS001	Shashi-Pena Syndrome	26
655	c	DMN020	Diamond-Blackfan Anemia 8	26
656	c	THR110	Thrombocytopenia 6	26
657	c	FNC066	Fanconi Renotubular Syndrome 5	25
658		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	25
659	c	DMN045	Diamond-Blackfan Anemia-Like	25
660	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	24
661	c	HYP845	Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	23
662	c	DMN028	Diamond-Blackfan Anemia 12	23
663	c	MLG148	Malignant Hyperthermia 2	23
664	c	DMN029	Diamond-Blackfan Anemia 11	23
665	c	THR125	Thrombocytopenia 7	22
666	c	FNC049	Fanconi Renotubular Syndrome 3	21
667	c	HYP871	Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	21
668	c	MLG149	Malignant Hyperthermia 3	21
669		KNN010	Kennerknecht Syndrome	20
670		CRT006	Cartilage Cancer	20
671		SPN433	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	20
672	c	ANK019	Ankrd26-Related Thrombocytopenia	20
673	c	RPP007	Rippling Muscle Disease 1	19
674	c	MLG150	Malignant Hyperthermia 4	19
675	c	DMN030	Diamond-Blackfan Anemia 13	19
676	c	DMN047	Diamond-Blackfan Anemia 18	19
677	c	DMN040	Diamond-Blackfan Anemia 16	19
678	c	MLG152	Malignant Hyperthermia 6	18
679		FXL001	Foix-Alajouanine Syndrome	18
680	c	DMN048	Diamond-Blackfan Anemia 19	18
681	c	DMN039	Diamond-Blackfan Anemia 17	17
682		MNT251	Mental Retardation, Microcephaly, Epilepsy, and Coarse Face	16
683		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	15
684		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	13
685		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
686	c	FNC067	Fanconi Renotubular Syndrome 4	10
687		OSS016	Ossified Ear Cartilages	10
688		RRG015	Rare Genetic Bone Disease	8
689	c	HYP861	Hyper Ige Recurrent Infection Syndrome 2	6
690	c	HYP862	Hyper Ige Recurrent Infection Syndrome 3	6
691	c	HYP863	Hyper Ige Recurrent Infection Syndrome 4	6
692		OST166	Osteoma of Cranial Vault, Familial	5
693		ALS004	Alsing Syndrome	4
694	c	RRD027	Rare Disease with Malignant Hyperthermia	4
695		CNT014	Central Nervous System Osteosarcoma	4
696		DSR016	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement	4
697		RRB007	Rare Bone Disease Related to a Common Gene or Pathway Defect	3
698		RRG025	Rare Genetic Systemic or Rheumatologic Disease	3
699		RRS008	Rare Systemic or Rheumatological Disease of Childhood	3
700		RRP016	Rare Pediatric Rheumatologic Disease	3
701	P	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	79
702		OST012	Osteoarthritis	77
703		MYL069	Myeloma, Multiple	76
704	c	MCP050	Mucopolysaccharidosis, Type Ii	73
705	P	SYS005	Systemic Scleroderma	73
706	P	ART022	Arthritis	70
707	P	GCH001	Gaucher's Disease	69
708	c	MCP001	Mucopolysaccharidosis Iii	69
709		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	68
710		HRL003	Hurler Syndrome	66
711		STH001	Saethre-Chotzen Syndrome	65
712	c	INF071	Inflammatory Bowel Disease 1	65
713		KWS002	Kawasaki Disease	65
714	P	HRD008	Hereditary Hemorrhagic Telangiectasia	64
715		OST017	Osteomyelitis	63
716	c	MCP049	Mucopolysaccharidosis, Type Vii	62
717	P	THN009	Thanatophoric Dysplasia, Type I	62
718		TKY002	Takayasu Arteritis	61
719	P	SJG008	Sjogren Syndrome	60
720		OST015	Osteochondrodysplasia	60
721	P	BND020	Bone Disease	60
722	c	ACT027	Acute Pancreatitis	60
723	P	STC001	Stickler Syndrome	60
724	P	FML052	Familial Cold Autoinflammatory Syndrome	59
725	P	CMR001	Camurati-Engelmann Disease	58
726		HYP042	Hypochondroplasia	58
727	c	CNG415	Congenital Disorder of Glycosylation, Type Ia	58
728	P	VNB005	Van Buchem Disease	58
729		MLN014	Melnick-Needles Syndrome	58
730		INT324	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	58
731	c	PSR021	Psoriasis 14, Pustular	57
732		MXD005	Mixed Connective Tissue Disease	57
733	P	SCL018	Scoliosis	57
734	c	ANM036	Anemia, Sideroblastic, 1	56
735	c	JVN061	Juvenile Arthritis	56
736	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	56
737		NTR042	Neutrophilic Dermatosis, Acute Febrile	56
738		PLS011	Plasmacytoma	56
739	c	TLN006	Telangiectasia, Hereditary Hemorrhagic, Type 1	56
740	P	MYS005	Myositis	55
741	P	FBR017	Fibrosarcoma	55
742		END081	Endosteal Hyperostosis, Autosomal Dominant	55
743	c	GM2005	Gm2-Gangliosidosis, Ab Variant	53
744		PRC002	Paracoccidioidomycosis	53
745	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	53
746		THR009	Thrombocytopenia-Absent Radius Syndrome	53
747		PYD001	Pyoderma Gangrenosum	53
748	c	GCH016	Gaucher Disease, Type Ii	53
749	c	CTS045	Cutis Laxa, Autosomal Dominant 1	52
750		OST016	Osteochondrosis	52
751	P	PLY147	Polydactyly, Postaxial, Type A1	52
752		ENT004	Enthesopathy	51
753		BLD053	Blood Platelet Disease	51
754		BRS064	Bursitis	51
755		MCR088	Microscopic Polyangiitis	51
756	P	BNG030	Benign Ependymoma	51
757	P	FRN012	Frontometaphyseal Dysplasia	51
758		CLB002	Clubfoot	50
759	c	LYS020	Loeys-Dietz Syndrome 5	50
760	c	MCP046	Mucopolysaccharidosis, Type Iiid	50
761		DRG013	Drug-Induced Lupus Erythematosus	49
762		MTT002	Metatropic Dysplasia	49
763		HYP789	Hypophosphatemic Rickets with Hypercalciuria, Hereditary	49
764		RYS001	Reye Syndrome	49
765	P	HLL001	Hallermann-Streiff Syndrome	49
766		EXS001	Exostosis	49
767		MYL003	Myeloid Sarcoma	48
768	P	HRD001	Hereditary Multiple Exostoses	48
769		DFF016	Diffuse Astrocytoma	48
770	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	48
771		BNN003	Bone Inflammation Disease	47
772	P	PLY148	Polydactyly, Preaxial Ii	47
773		SPH001	Sapho Syndrome	47
774		HYP068	Hyperostosis	47
775		HYP596	Hypophosphatasia, Childhood	47
776	P	KLP003	Klippel-Feil Syndrome	47
777		BNR002	Bone Resorption Disease	47
778		DPN005	Du Pan Syndrome	47
779	P	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	47
780		SHR044	Short Rib-Polydactyly Syndrome	47
781		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	46
782		ESN015	Eosinophilic Fasciitis	46
783	P	GLP001	Geleophysic Dysplasia	46
784		SPN020	Spondylosis	46
785	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	45
786	P	DVL012	Developmental Dysplasia of the Hip 1	45
787		TNS014	Tenosynovitis	45
788		NSD001	Nose Disease	45
789	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	45
790	c	BRC109	Brachydactyly, Type E1	45
791	c	FNC045	Fanconi Anemia, Complementation Group F	44
792		RNS001	Raine Syndrome	44
793	c	GLP003	Geleophysic Dysplasia 1	43
794		CHR543	Chromosome 2q37 Deletion Syndrome	43
795	c	CNG201	Congenital Disorder of Glycosylation, Type Iij	43
796		DYS018	Dysostosis	43
797		GLC086	Glucocorticoid-Induced Osteoporosis	43
798	P	BRT047	Brittle Cornea Syndrome	43
799	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	42
800		RVL002	Ruvalcaba Syndrome	42
801		NRG003	Neurogenic Arthropathy	42
802		MSN004	Mesenchymal Cell Neoplasm	42
803		BNS001	Bone Osteosarcoma	41
804		MST019	Mastoiditis	41
805	P	SYN012	Synpolydactyly	41
806	c	EHL081	Ehlers-Danlos Syndrome, Classic-Like	40
807		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	40
808	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	40
809	c	ADM005	Adams-Oliver Syndrome 1	40
810		CHN053	Chondromyxoid Fibroma	40
811		IVC001	Ivic Syndrome	40
812	c	SYN059	Syndactyly, Type V	40
813		MJD001	Majeed Syndrome	39
814	c	GLP004	Geleophysic Dysplasia 2	39
815		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	39
816	c	MCP051	Mucopolysaccharidosis, Type Ix	38
817	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	38
818		OST004	Osteitis Fibrosa	38
819		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	38
820	P	INC029	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1	38
821		ORB006	Orbital Cellulitis	38
822		TRG019	Trigonocephaly with Short Stature and Developmental Delay	38
823		SYN086	Synostoses, Tarsal, Carpal, and Digital	38
824		OST006	Osteoblastoma	37
825	P	PST059	Pustular Psoriasis	37
826		AML066	Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome	37
827	c	CNG200	Congenital Disorder of Glycosylation, Type Iq	37
828	c	CRN277	Craniosynostosis 2	37
829		PYL017	Pyle Disease	37
830	c	ATS494	Autosomal Recessive Distal Renal Tubular Acidosis	36
831	c	SYN084	Synpolydactyly 1	36
832		SPN250	Spondyloepimetaphyseal Dysplasia	36
833		ERY017	Erythema Elevatum Diutinum	36
834		ISL087	Isolated Oxycephaly	36
835		ACR095	Acrofacial Dysostosis, Cincinnati Type	36
836		DYS045	Dysosteosclerosis	36
837	c	ACR091	Aicardi-Goutieres Syndrome 4	35
838	c	B4G002	B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	35
839	P	TTR031	Tetraamelia Syndrome	35
840		JBR032	Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy	35
841	c	RBN020	Robinow Syndrome, Autosomal Dominant 3	35
842	c	OMD001	Omodysplasia 1	35
843		HMM005	Hemimelia	35
844		SYN106	Syndromic Craniosynostosis	35
845		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	35
846	c	FRN048	Frontometaphyseal Dysplasia 2	35
847	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	34
848		ISL096	Isolated Klippel-Feil Syndrome	34
849	c	BRC075	Brachydactyly, Type A1, C	34
850		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	34
851	c	GLP007	Geleophysic Dysplasia 3	34
852	c	RNL125	Renal Tubular Acidosis, Distal, 1	34
853	c	PRT059	Parietal Foramina 1	34
854		CHL006	Childhood Oligodendroglioma	33
855		GLF001	Gliofibroma	33
856	P	BND014	Bone Development Disease	33
857	P	CXV002	Coxa Vara	33
858		OCL040	Oculomaxillofacial Dysostosis	33
859	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	33
860		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	33
861	c	PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	33
862	c	INC015	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2	33
863		SGR001	Sugarman Brachydactyly	33
864	c	WLL040	Weill-Marchesani Syndrome 4	33
865	P	KNN002	Kenny-Caffey Syndrome	33
866		CRB026	Cerebellar Astrocytoma	32
867	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	32
868	c	PLY136	Polydactyly, Preaxial I	32
869		MLR023	Melorheostosis, Isolated	32
870		ADL053	Adult Astrocytic Tumour	32
871		MTC100	Metacarpal 4-5 Fusion	32
872	P	HRD209	Hereditary Angioedema with Normal C1inh	32
873	c	BRC047	Bruck Syndrome 1	32
874	c	BRC048	Bruck Syndrome 2	32
875		GMS001	Gemistocytic Astrocytoma	32
876		ORB009	Orbit Lymphoma	32
877		PST044	Postorgasmic Illness Syndrome	31
878	c	SPL070	Split-Hand/foot Malformation 2	31
879	c	INF085	Inflammatory Bowel Disease 27	31
880		TBL008	Tibial Hemimelia	31
881	P	EXT030	Extraosseous Chondrosarcoma	31
882	c	PRT060	Parietal Foramina 2	31
883	P	ADL037	Adult Xanthogranuloma	31
884		MLT177	Multisystem Proteinopathy	31
885	c	ATS210	Autosomal Recessive Sideroblastic Anemia	31
886	c	INC031	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3	30
887		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	30
888	c	BRC099	Brachydactyly, Type A4	30
889	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	30
890		BND004	Bone Deterioration Disease	30
891		ISC005	Ischemic Bone Disease	29
892		WLD005	Wild Type Attr Amyloidosis	29
893		AML065	Amelia	29
894	c	RDL040	Radioulnar Synostosis, Nonsyndromic	29
895	c	SHR100	Short-Rib Thoracic Dysplasia 15 with Polydactyly	29
896		ISL061	Isolated Brachycephaly	29
897		BNR001	Bone Remodeling Disease	29
898	P	NNT006	Neonatal Myasthenia Gravis	29
899		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	28
900		FMR002	Femoral Cancer	28
901	c	OCL047	Oculodentodigital Dysplasia, Autosomal Recessive	28
902	c	MLG067	Malignant Giant Cell Tumor	28
903	P	MYX008	Myxoid Chondrosarcoma	28
904		BJL001	Bejel	28
905		PLC004	Pilocytic Astrocytoma of Cerebellum	28
906	c	INF077	Inflammatory Bowel Disease 19	28
907		PSD030	Pseudodiastrophic Dysplasia	28
908		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	28
909		RFM002	Roifman-Chitayat Syndrome	28
910		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	28
911		PTR001	Petrositis	28
912		CLV004	Calvarial Hyperostosis	28
913		PST113	Posterior Fossa Ependymoma	28
914	c	INF160	Inflammatory Bowel Disease 17	28
915	c	OTF003	Otofaciocervical Syndrome 2	27
916	P	SKL005	Skull Base Meningioma	27
917		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	27
918		BRN142	Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis	27
919		FRN022	Frontofacionasal Dysplasia	27
920	c	TTR028	Tetraamelia Syndrome 1	27
921		BNS002	Bone Structure Disease	27
922	P	OVR096	Overlap Myositis	27
923	P	JVN001	Juvenile Astrocytoma	27
924	c	FML344	Familial Mediterranean Fever, Autosomal Dominant	27
925		CLV002	Clivus Chordoma	26
926		ISL084	Isolated Trigonocephaly	26
927	c	CFF012	Coffin-Siris Syndrome 7	26
928	c	ADM009	Adams-Oliver Syndrome 4	26
929		ASS004	Aase-Smith Syndrome I	26
930	c	LTH047	Lethal Congenital Contracture Syndrome 3	26
931	c	HRD219	Hereditary Distal Renal Tubular Acidosis	26
932		PTR002	Petroclival Meningioma	26
933		DNC009	Diencephalic Astrocytoma	25
934		INT033	Intracranial Chondrosarcoma	25
935	c	INF067	Inflammatory Bowel Disease 10	25
936		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	25
937	c	CFF006	Coffin-Siris Syndrome 5	25
938	c	MRG015	Meier-Gorlin Syndrome 7	25
939		FBR028	Fibrosing Mediastinitis	25
940	c	MRG014	Meier-Gorlin Syndrome 6	25
941	c	MLG167	Malignant Inflammatory Fibrous Histiocytoma	25
942	c	SYM019	Symphalangism, Proximal, 1b	25
943		CVR001	Cavernous Sinus Meningioma	25
944		SKL030	Skull Base Cancer	25
945		LNG113	Liang-Wang Syndrome	25
946	c	CLC055	Cole-Carpenter Syndrome 2	25
947		DHS002	Deeah Syndrome	24
948		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	24
949	c	MLT078	Multiple Synostoses Syndrome 3	24
950	c	INF087	Inflammatory Bowel Disease 4	24
951		KHN002	Khan-Khan-Katsanis Syndrome	24
952	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	24
953	c	SHR113	Short-Rib Thoracic Dysplasia 18 with Polydactyly	24
954	c	LTH039	Lethal Congenital Contracture Syndrome 11	24
955		ACH002	Achilles Bursitis	24
956		SGL002	Sagliker Syndrome	24
957		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	23
958	c	ADM008	Adams-Oliver Syndrome 3	23
959		EXC004	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	23
960		INT058	Intraorbital Meningioma	23
961		VSS003	Vissers-Bodmer Syndrome	23
962		SHX002	Shox-Related Short Stature	23
963	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	23
964		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	23
965		PRT005	Protoplasmic Astrocytoma	23
966		OST117	Osteomesopyknosis	23
967	c	ATS451	Autosomal Recessive Cutis Laxa Type 2	22
968	c	INF068	Inflammatory Bowel Disease 13	22
969	c	CFF015	Coffin-Siris Syndrome 10	22
970		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	22
971	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	22
972		ALR004	Alar Cleft, Isolated	22
973		OST168	Osteosclerotic Metaphyseal Dysplasia	22
974		SPR168	Supratentorial Ependymoma	22
975		HGH021	Hughes-Stovin Syndrome	22
976		BNP002	Bone Epithelioid Hemangioma	22
977		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	22
978		CNV007	Conventional Central Osteosarcoma	22
979		INT363	Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies	21
980		DYS013	Dysbaric Osteonecrosis	21
981		LWR016	Lowry-Maclean Syndrome	21
982		ISL124	Isolated Growth Hormone Deficiency, Type V	21
983		SCH031	Scholte Syndrome	21
984		TBS009	Teebi-Shaltout Syndrome	21
985		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	21
986	c	ATS493	Autosomal Dominant Distal Renal Tubular Acidosis	21
987		CRB062	Cerebellar Hypoplasia with Endosteal Sclerosis	21
988		ART154	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	21
989		SLL002	Sella Turcica Neoplasm	21
990		ORB004	Orbital Osteomyelitis	21
991	c	PLY137	Polydactyly, Preaxial Iii	21
992		MRS009	Marsili Syndrome	21
993		ACR019	Acropectoral Syndrome	21
994		SYM024	Symphalangism, Distal	21
995		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	21
996		MSM019	Mesomelic Dysplasia, Savarirayan Type	20
997		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	20
998		GRN016	Grant Syndrome	20
999	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	20
1000		CLV012	Clavicle, Pseudarthrosis of, Congenital	20
1001		TBL006	Tibial Adamantinoma	20
1002	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	20
1003	c	ANM034	Anemia, Sideroblastic, 4	20
1004	c	INF080	Inflammatory Bowel Disease 21	20
1005		SPH003	Sphenoorbital Meningioma	20
1006		VRN007	Variant Abeta2m Amyloidosis	20
1007		SPN439	Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	20
1008		9Q3002	9q33.3q34.11 Microdeletion Syndrome	19
1009		ULN005	Ulna and Fibula, Hypoplasia of	19
1010		FCC003	Faciocardiomelic Dysplasia, Lethal	19
1011	c	EXS021	Exostoses, Multiple, Type Iii	19
1012		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	19
1013		IGG015	Igg4-Related Thyroid Disease	19
1014	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	19
1015		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	18
1016	c	INF081	Inflammatory Bowel Disease 22	18
1017		KNS006	Kniest-Like Dysplasia, Lethal	18
1018		CNG284	Congenital Pseudoarthrosis of the Tibia	18
1019		HST018	Histiocytosis, Progressive Mucinous	18
1020		DYS134	Dysspondyloenchondromatosis	18
1021	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	18
1022	c	ACT247	Acth-Independent Macronodular Adrenal Hyperplasia 1	18
1023		BND017	Bone Dysplasia, Lethal, Holmgren Type	18
1024		MSM018	Mesomelic Limb Shortening and Bowing	18
1025		LPD041	Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones	18
1026	c	PLY178	Polydactyly, Postaxial, Type A8	18
1027	c	SYS046	Systemic Lupus Erythematosus 3	17
1028		ULN007	Ulna Metaphyseal Dysplasia Syndrome	17
1029		THR033	Thoracomelic Dysplasia	17
1030		CLF047	Cleft-Limb-Heart Malformation Syndrome	17
1031	c	VTM035	Vitamin D-Dependent Rickets, Type 3	17
1032		OST047	Osteopenia and Sparse Hair	17
1033		IGG009	Igg4-Related Ophthalmic Disease	17
1034	c	PLY101	Polydactyly, Postaxial, Type A6	17
1035		CXR001	Coxoauricular Syndrome	17
1036		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	17
1037		PPL038	Papular Xanthoma	17
1038		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	17
1039		RDL032	Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia	17
1040		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	17
1041		IGG013	Igg4-Related Pachymeningitis	17
1042	c	PLY184	Polydactyly, Postaxial, Type A10	17
1043		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	16
1044	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	16
1045		IGG011	Igg4-Related Kidney Disease	16
1046		CRN192	Craniorhiny	16
1047	c	DVL011	Developmental Dysplasia of the Hip 2	16
1048		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	16
1049	c	KLP012	Klippel-Feil Syndrome 1	16
1050		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	16
1051	c	PLY103	Polydactyly, Postaxial, Type A5	16
1052	c	VNB003	Van Buchem Disease Type 2	16
1053		RLF001	Rela Fusion-Positive Ependymoma	16
1054	c	MXD051	Mixed Cryoglobulinemia Type Ii	16
1055		JXT002	Juxtacortical Chondrosarcoma	16
1056	c	LTY001	Late Yaws	16
1057		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	16
1058		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	16
1059		LTR005	Lateral Displacement of Eye	16
1060		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	15
1061		BRC100	Brachydactyly, Combined B and E Types	15
1062	c	PLY182	Polydactyly, Postaxial, Type A9	15
1063		ANP032	Anaplastic Pleomorphic Xanthoastrocytoma	15
1064		LYS030	Lysosomal Storage Disease with Skeletal Involvement	15
1065		SYN025	Syndactyly-Polydactyly-Earlobe Syndrome	15
1066		TRP023	Triphalangeal Thumbs and Dislocation of Patella	15
1067		ECT086	Ectrodactyly-Polydactyly	15
1068		PLY132	Polysyndactyly, Crossed	15
1069		LRS009	Larsen-Like Syndrome, Lethal Type	15
1070		SPN120	Spondylocamptodactyly	15
1071		CNS012	Cono-Spondylar Dysplasia	15
1072	c	SYS052	Systemic Lupus Erythematosus 13	15
1073	c	SCN082	Secondary Vasculitis	14
1074		TTR010	Tetramelic Monodactyly	14
1075		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	14
1076		PYD004	Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome	14
1077		ISL134	Isolated Craniosynostosis	14
1078	c	CNT108	Central Polydactyly	14
1079		SCK020	Sickle Cell - Hemoglobin D Disease	14
1080		WHB001	Wahab Syndrome	14
1081		OST173	Osteoradionecrosis of the Mandible	14
1082		RDL031	Radial Aplasia, X-Linked	14
1083		HLL014	Hallux Varus and Preaxial Polysyndactyly	13
1084	c	ANT021	Anterior Foramen Magnum Meningioma	13
1085		DPH002	Diaphragma Sellae Meningioma	13
1086		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	13
1087		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	13
1088		ACR027	Acrodysplasia Scoliosis	13
1089		CLS055	Classic Pyoderma Gangrenosum	12
1090		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	12
1091		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	12
1092	c	SPN256	Spondyloarthropathy 3	12
1093		PTT005	Pituitary Stalk Meningioma	12
1094		ACH028	Acheiria	12
1095		HRR003	Herrmann Opitz Craniosynostosis	11
1096		SCN050	Secondary Non-Traumatic Avascular Necrosis	11
1097		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	11
1098		NNT044	Neonatal Antiphospholipid Syndrome	11
1099	c	MLT172	Multiple Metaphyseal Dysplasia	11
1100		IDP040	Idiopathic Eosinophilic Myositis	11
1101		TRC112	Trochlea of the Humerus, Aplasia of	11
1102		ACR121	Acromelic Dysplasia	11
1103		OST177	Osteochondrosis of the Metatarsal Bone	11
1104		HYP852	Hypocalcemic Rickets	11
1105		DYS208	Dysostosis with Brachydactyly	10
1106		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	10
1107		IGG010	Igg4-Related Aortitis	10
1108		TRM028	Terminal Transverse Limb Defect	10
1109	c	ZYG005	Zygodactyly Type 4	10
1110		CNG277	Congenital Pseudoarthrosis of the Fibula	10
1111		SMP006	Simple Cryoglobulinemia	9
1112		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	9
1113		CHL007	Childhood Extraosseous Osteosarcoma	9
1114		CLV001	Clivus Chondroid Chordoma	9
1115		DYS128	Dysplasia of Head of Femur, Meyer Type	9
1116		MLH001	Melhem Fahl Syndrome	9
1117	c	HLL012	Hallermann-Streiff-Like Syndrome	9
1118		FBL017	Fibular Dimelia-Diplopodia Syndrome	9
1119		CNG283	Congenital Pseudoarthrosis of the Femur	8
1120		GLB012	Glioblastoma Proneural Subtype	8
1121		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	8
1122		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	8
1123		DBR003	Dobrow Syndrome	8
1124		TRG018	Trigonocephaly-Broad Thumbs Syndrome	8
1125		IDP078	Idiopathic Phalangeal Acro-Osteolysis	8
1126		TBF001	Tibio-Fibular Synostosis	8
1127	c	RRN022	Rare Inflammatory Bowel Disease	8
1128		PRN048	Prenatal Benign Hypophosphatasia	8
1129		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	7
1130		SNG013	Single-Organ Polyarteritis Nodosa	7
1131		LWR003	Lower Clivus Meningioma	7
1132		AML037	Amelia of Upper Limb	7
1133	c	JVN030	Juvenile Overlap Myositis	7
1134		NNS055	Non-Syndromic Preaxial Polydactyly	7
1135	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
1136	c	RNL048	Renal Tubular Acidosis, Distal, Type 3	7
1137	c	PST023	Posterior Foramen Magnum Meningioma	7
1138		UPP001	Upper Clivus Meningioma	7
1139	c	GM2002	Gm2-Gangliosidosis, B, B1, Ab Variant	6
1140		BNL004	Benallegue Lacete Syndrome	6
1141		CNG287	Congenital Absence of Both Forearm and Hand	6
1142	c	KLP013	Klippel-Feil Syndrome 3	6
1143		OST013	Osteosarcoma Arising in Bone Paget's Disease	6
1144		HMR031	Humeral Agenesis/hypoplasia	6
1145		CNG290	Congenital Absence of Both Lower Leg and Foot	6
1146		LNG112	Longitudinal Limb Defect	6
1147		OKH001	Okihiro Syndrome Due to a Point Mutation	6
1148		INT355	Intercalary Limb Defects	5
1149		CHL041	Childhood Intracortical Osteosarcoma	5
1150	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
1151	c	ADL046	Adult Myxoid Chondrosarcoma	5
1152		RDL020	Radio-Ulnar Synostosis, Bilateral	5
1153	c	PRX099	Proximal Symphalangism 1	4
1154		MTC001	Metachronous Osteosarcoma of the Bone	4
1155		MXD013	Mixed Astrocytoma-Ependymoma-Oligodendroglioma	4
1156	P	PRD043	Predominantly Small-Vessel Vasculitis	4
1157		UNX005	Unexplained Periodic Fever Syndrome	4
1158		PHL011	Phalanx Chondroma	4
1159		CRP024	Corpus Callosum Oligodendroglioma	4
1160		PDT018	Pediatric Myxoid Chondrosarcoma	4
1161	c	CXV001	Coxa Vara, Congenital	4
1162		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	4
1163		RDL019	Radio-Ulnar Synostosis, Unilateral	4
1164	c	ANG069	Angpt1-Related Hereditary Angioedema with Normal C1inh	4
1165		ACQ052	Acquired Angioedema with C1inh Deficiency	4
1166		PRD044	Predominantly Medium-Vessel Vasculitis	4
1167		PLM197	Pleomorphic Xanthoastrocytoma Braf Mutant	3
1168		GNG007	Ganglion or Cyst of Synovium/tendon/bursa	3
1169		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	3
1170		CNG391	Congenital Pseudoarthrosis of the Limbs	3
1171	c	TRP028	Trpv4-Related Bone Disorder	3
1172		JNT005	Joint Formation Defects	3
1173		AML036	Amelia of Lower Limb	3
1174	c	HYD017	Hydrocephalus Autosomal Recessive	3
1175	c	PRD045	Predominantly Large-Vessel Vasculitis	3
1176		PYG009	Pyogenic Autoinflammatory Syndrome	3
1177		GRN058	Granulomatous Autoinflammatory Syndrome	3
1178		LM5001	Lama5-Related Multisystemic Syndrome	3
1179		ANT097	Antley-Bixler Syndrome Without Genital Anomaly or Disorder of Steroidogenesis	3
1180		DYS202	Dysostosis with Limb Anomaly As a Major Feature	3
1181		DYS207	Dysostosis with Brachydactyly Without Extraskeletal Manifestations	3
1182		NNS056	Non-Syndromic Complex Polydactyly	3
1183		CMP099	Complete Hemimelia	3
1184		CLD020	Cleidocranial Dysplasia and Isolated Cranial Ossification Defect	3
1185		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
1186		MSM021	Mesomelic and Rhizo-Mesomelic Dysplasia	3
1187		MRF022	Marfan and Marfan-Related Disorders	2
1188		RSS001	Ross River Fever	29
1189		INT009	Intracranial Abscess	25
1190		ONY001	O'nyong'nyong Fever	16
1191		BRM001	Barmah Forest Virus Disease	13
1192		BNM001	Bone Marrow Cancer	45
1193	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	38
1194	c	PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	25
1195	c	PLM195	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5	19
1196		ACT193	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)	54
1197	P	PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	50
1198		SKL034	Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus	13
1199		CNN005	Connective Tissue Disease	66
1200		GLS018	Glass Syndrome	60
1201	P	CRB101	Cerebrooculofacioskeletal Syndrome 1	53
1202	P	SDR003	Sideroblastic Anemia	49
1203	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	33
1204	P	MNS018	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1	30
1205	c	MNS019	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2	20
1206		NRF027	Neurofacioskeletal Syndrome with or Without Renal Agenesis	15
1207	P	RHB003	Rhabdomyosarcoma	66
1208	c	HRD010	Hereditary Spastic Paraplegia	65
1209	c	RHB024	Rhabdomyosarcoma 2	65
1210	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	63
1211		CRC021	Carcinosarcoma	62
1212	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	58
1213	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	56
1214	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	55
1215	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	55
1216	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
1217		CRN048	Craniofacial-Deafness-Hand Syndrome	52
1218		ARM004	Aromatase Excess Syndrome	52
1219	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	51
1220	c	SPS153	Spastic Paraplegia 35, Autosomal Recessive	50
1221	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	49
1222	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	49
1223	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	49
1224	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	48
1225	c	SPS126	Spastic Paraplegia 49, Autosomal Recessive	45
1226	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	45
1227	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	44
1228	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	44
1229	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	44
1230	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	44
1231	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	44
1232	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	43
1233	c	SPS101	Spastic Paraplegia 56, Autosomal Recessive	43
1234	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	43
1235	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	42
1236	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	42
1237	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	42
1238	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	42
1239	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	42
1240	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	41
1241	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	41
1242	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	41
1243	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	40
1244	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	40
1245	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	40
1246	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	40
1247	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	39
1248		ISL015	Isolated Growth Hormone Deficiency, Type Ib	39
1249	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	39
1250		SWN003	Sweeney-Cox Syndrome	39
1251	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	39
1252	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	39
1253		CNT060	Central Serous Chorioretinopathy	38
1254	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	38
1255	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	38
1256	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	38
1257	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	38
1258	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	37
1259	c	SPS092	Spastic Paraplegia 11	37
1260	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	37
1261	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	37
1262	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	36
1263	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	35
1264		CYT014	Cytochrome P450 Oxidoreductase Deficiency	35
1265	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	34
1266	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	33
1267	P	SPS012	Spastic Paraplegia 3a	33
1268	c	SPS036	Spastic Paraplegia 3	32
1269	c	HRD220	Hereditary Spastic Paraplegia 30	32
1270	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	32
1271	c	HRD186	Hereditary Spastic Paraplegia 51	31
1272	c	SPS013	Spastic Paraplegia 8	31
1273	c	SPS039	Spastic Paraplegia 5a	31
1274	c	SPS025	Spastic Paraplegia 15	30
1275	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	30
1276	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
1277	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	30
1278	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	29
1279	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	29
1280	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	29
1281	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	29
1282	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	28
1283	c	SPS091	Spastic Paraplegia 4	28
1284		THY064	Thyroid Hormone Metabolism, Abnormal	28
1285	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	28
1286	c	SPS021	Spastic Paraplegia 10	28
1287	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	28
1288	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	28
1289	c	HRD188	Hereditary Spastic Paraplegia 72	28
1290	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
1291	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	27
1292	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	26
1293	c	SPS041	Spastic Paraplegia 6	26
1294	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	25
1295	c	SPS027	Spastic Paraplegia 17	25
1296	c	HRD210	Hereditary Spastic Paraplegia 23	24
1297	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	23
1298	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	22
1299	c	SPS038	Spastic Paraplegia 39	22
1300	c	SPS042	Spastic Paraplegia 9	22
1301	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	22
1302	c	SPS023	Spastic Paraplegia 13	21
1303		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	21
1304	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	19
1305	c	SPS022	Spastic Paraplegia 12	18
1306	c	SPS028	Spastic Paraplegia 18	17
1307	c	SPS034	Spastic Paraplegia 26	17
1308	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
1309	c	SPS032	Spastic Paraplegia 24	15
1310	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	14
1311	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1312	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	14
1313	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
1314	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	14
1315	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
1316	c	SPS029	Spastic Paraplegia 19	14
1317		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	14
1318	c	SPS035	Spastic Paraplegia 29	13
1319	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	13
1320		PLM145	Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	13
1321	c	SPS024	Spastic Paraplegia 14	12
1322	c	SPS165	Spastic Paraplegia 47	12
1323	c	SPS161	Spastic Paraplegia 32	12
1324	c	SPS026	Spastic Paraplegia 16	11
1325	c	SPS033	Spastic Paraplegia 25	11
1326	c	SPS230	Spastic Paraplegia Type 49	10
1327	c	SPS040	Spastic Paraplegia 5b	7
1328	c	SYS001	Systemic Lupus Erythematosus	85
1329	P	BDY004	Body Mass Index Quantitative Trait Locus 11	82
1330	P	RHM011	Rheumatoid Arthritis	81
1331	c	FNC027	Fanconi Anemia, Complementation Group a	80
1332		SCK003	Sickle Cell Anemia	74
1333	c	CHR684	Chronic Kidney Disease	73
1334	P	KDN018	Kidney Disease	71
1335	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	70
1336		APR006	Apert Syndrome	69
1337	P	CHR012	Chronic Granulomatous Disease	69
1338	c	MCL062	Mucolipidosis Ii Alpha/beta	69
1339	P	LVR013	Liver Disease	68
1340	P	BLD124	Bleeding Disorder, Platelet-Type, 11	68
1341	c	JVN004	Juvenile Myelomonocytic Leukemia	66
1342		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	66
1343		ACH004	Achondroplasia	65
1344	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	65
1345		HTC003	Hutchinson-Gilford Progeria Syndrome	65
1346	P	THR117	Three M Syndrome 1	64
1347	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	64
1348	c	MCL013	Mucolipidosis Iv	64
1349		GT001	Gout	63
1350		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	63
1351		GLS001	Gliosarcoma	63
1352	P	PLL001	Pallister-Hall Syndrome	62
1353	P	HYP069	Hyperparathyroidism	62
1354		HJD001	Hajdu-Cheney Syndrome	62
1355	P	OST009	Osteochondritis Dissecans	61
1356	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	61
1357	c	MCL046	Mucolipidosis Iii Alpha/beta	61
1358	P	LRS001	Larsen Syndrome	61
1359		OST003	Osteonecrosis	60
1360	c	MCP043	Mucopolysaccharidosis, Type Iiia	60
1361	P	OST135	Osteogenesis Imperfecta, Type I	60
1362		RCT015	Reactive Arthritis	60
1363	P	NRF002	Neurofibromatosis	60
1364	c	ACT071	Acute Kidney Failure	60
1365	c	OTP006	Otopalatodigital Syndrome, Type I	59
1366	P	PLY017	Polyarteritis Nodosa	59
1367	P	CHR285	Chronic Myelomonocytic Leukemia	59
1368	c	CRP023	Carpenter Syndrome 1	59
1369	c	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	59
1370	P	PLY006	Polydactyly	58
1371	c	MCP045	Mucopolysaccharidosis, Type Iiic	58
1372	P	BNC003	Bone Cancer	58
1373	c	OST122	Osteogenesis Imperfecta, Type Iii	57
1374		CRN005	Craniofrontonasal Syndrome	57
1375		GRN051	Granulomatous Disease, Chronic, X-Linked	57
1376	c	ACT134	Acute Liver Failure	57
1377		GNT002	Giant Cell Glioblastoma	57
1378	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	57
1379	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	56
1380		WVR001	Weaver Syndrome	56
1381	P	PRM018	Primary Hypertrophic Osteoarthropathy	56
1382		HNC001	Henoch-Schoenlein Purpura	56
1383	P	FNC044	Fanconi Anemia, Complementation Group C	56
1384	P	RBN002	Robinow Syndrome	56
1385		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	56
1386	c	OST080	Osteogenesis Imperfecta, Type Ii	55
1387	c	SPN330	Spondylocostal Dysostosis 5	55
1388		PGM001	Pigmented Villonodular Synovitis	55
1389		ANT039	Antisynthetase Syndrome	55
1390	c	FML116	Familial Cold Autoinflammatory Syndrome 1	55
1391	c	VTM027	Vitamin D-Dependent Rickets, Type 2a	54
1392	P	SPN052	Spondyloarthropathy	54
1393	c	ALM001	Al Amyloidosis	54
1394	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	54
1395	P	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	54
1396	c	ACH041	Achondrogenesis, Type Ii	54
1397		VSC003	Visceral Leishmaniasis	54
1398		MLT135	Multiple Sulfatase Deficiency	53
1399		HYP074	Hypersensitivity Vasculitis	53
1400	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	53
1401		FRN039	Frank-Ter Haar Syndrome	53
1402		CFF003	Caffey Disease	53
1403		ANL018	Analbuminemia	53
1404	c	JVN010	Juvenile Rheumatoid Arthritis	52
1405	c	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	52
1406		CHN054	Chondrodysplasia, Blomstrand Type	52
1407		EHL079	Ehlers-Danlos Syndrome, Dermatosparaxis Type	52
1408		OST011	Osteomalacia	52
1409		PLS030	Plasminogen Deficiency, Type I	52
1410	P	PRT042	Parietal Foramina	51
1411		FLT011	Felty Syndrome	51
1412	c	BDY020	Body Mass Index Quantitative Trait Locus 19	51
1413	c	FNC024	Fanconi Anemia, Complementation Group D1	51
1414	P	CHN059	Chondrocalcinosis	51
1415	c	NML003	Nemaline Myopathy 2	51
1416	c	HYD064	Hydrocephalus, Congenital, 1	51
1417	c	BRC079	Brachydactyly, Type A2	51
1418		SCH002	Schnitzler Syndrome	51
1419		RDC002	Radiculopathy	51
1420		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	51
1421	c	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	51
1422	c	RBN018	Robinow Syndrome, Autosomal Dominant 1	51
1423		BNS007	Bone Sarcoma	50
1424		LKC005	Leukocyte Adhesion Deficiency, Type Iii	50
1425	c	BRC051	Brachydactyly, Type B1	50
1426	c	SCN007	Secondary Hyperparathyroidism	50
1427		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	50
1428		CLC001	Calciphylaxis	50
1429		SPN028	Spondyloepimetaphyseal Dysplasia, Strudwick Type	50
1430	c	LYS018	Loeys-Dietz Syndrome 2	50
1431		YNS002	Yunis-Varon Syndrome	50
1432	c	BRC081	Brachydactyly, Type C	50
1433		SPN060	Spondylocarpotarsal Synostosis Syndrome	50
1434	c	NML002	Nemaline Myopathy 1	49
1435	c	MCL016	Mucolipidosis Iii Gamma	49
1436	c	SCK009	Seckel Syndrome 1	49
1437	c	ATS393	Autosomal Recessive Cutis Laxa Type I	49
1438	c	BDY021	Body Mass Index Quantitative Trait Locus 20	49
1439	P	OTS001	Otosclerosis	49
1440		ACR043	Acromicric Dysplasia	49
1441	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	49
1442	P	MNN019	Mannosidosis, Beta a, Lysosomal	49
1443		MLT145	Multiple Enchondromatosis, Maffucci Type	49
1444	P	MCL001	Mucolipidosis	49
1445		CRY008	Cryopyrin-Associated Periodic Syndrome	48
1446		MTC018	Metachondromatosis	48
1447	c	HYP243	Hyperparathyroidism 1	48
1448	P	MND003	Mandibuloacral Dysplasia with Type a Lipodystrophy	48
1449		SND002	Sneddon Syndrome	48
1450	c	ACH033	Achondrogenesis, Type Ia	48
1451	c	DSB006	Desbuquois Dysplasia 1	48
1452		FBR009	Fibrous Dysplasia	48
1453	P	RDL002	Radioulnar Synostosis	48
1454	P	BRC015	Bruck Syndrome	48
1455	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	47
1456		LMT001	Limited Scleroderma	47
1457	c	BDY005	Body Mass Index Quantitative Trait Locus 9	47
1458	c	NML004	Nemaline Myopathy 3	47
1459		PRG071	Progressive Pseudorheumatoid Dysplasia	46
1460	c	BDY019	Body Mass Index Quantitative Trait Locus 18	46
1461	c	ATS082	Autosomal Dominant Robinow Syndrome	46
1462	P	MSN005	Mesenchymal Chondrosarcoma	46
1463	c	FNC028	Fanconi Anemia, Complementation Group L	46
1464		HRT030	Hartsfield Syndrome	46
1465	c	ACR116	Aicardi-Goutieres Syndrome 1	46
1466	c	SPL067	Split-Hand/foot Malformation 1	46
1467	c	BDY015	Body Mass Index Quantitative Trait Locus 12	46
1468	c	BDY010	Body Mass Index Quantitative Trait Locus 4	46
1469		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	46
1470	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	45
1471		DFF035	Diffuse Cutaneous Systemic Sclerosis	45
1472	P	MLT072	Multiple Synostoses Syndrome	45
1473	c	BDY017	Body Mass Index Quantitative Trait Locus 14	45
1474		FML091	Familial Tumoral Calcinosis	45
1475	c	HRD039	Hereditary Amyloidosis	45
1476		MCR225	Macrophage Activation Syndrome	45
1477	c	BDY011	Body Mass Index Quantitative Trait Locus 10	45
1478	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	44
1479		HMF009	Hemifacial Hyperplasia	44
1480		CPM001	Cap Myopathy	44
1481	P	ANX007	Anauxetic Dysplasia 1	44
1482	c	ECT042	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3	44
1483	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	44
1484		ANC002	Anca-Associated Vasculitis	44
1485		ACR011	Acromesomelic Dysplasia, Maroteaux Type	44
1486	c	INF145	Infantile Liver Failure Syndrome 1	44
1487	c	EHL074	Ehlers-Danlos Syndrome, Classic Type, 2	44
1488	P	FRN036	Frontonasal Dysplasia 1	43
1489		SCH030	Schneckenbecken Dysplasia	43
1490	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	43
1491	c	BDY006	Body Mass Index Quantitative Trait Locus 8	43
1492	c	BDY012	Body Mass Index Quantitative Trait Locus 7	43
1493	P	CRN013	Craniodiaphyseal Dysplasia	43
1494	c	FNC058	Fanconi Anemia, Complementation Group R	43
1495	c	ORF033	Orofaciodigital Syndrome V	43
1496		LRW001	Leri-Weill Dyschondrosteosis	43
1497	c	MCK034	Meckel Syndrome, Type 8	43
1498		ANR009	Aneurysmal Bone Cysts	43
1499		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	43
1500		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	42
1501	c	FNC057	Fanconi Anemia, Complementation Group U	42
1502		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	42
1503		NPH098	Nephrolithiasis, X-Linked Recessive, with Renal Failure	42
1504		CHN056	Chondrosarcoma, Extraskeletal Myxoid	42
1505		NVL003	Nivelon-Nivelon-Mabille Syndrome	42
1506		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	42
1507	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	42
1508		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	42
1509		INF159	Infantile Sialic Acid Storage Disease	42
1510	c	NML006	Nemaline Myopathy 5	42
1511		TNS001	Tenosynovial Giant Cell Tumor	42
1512	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	41
1513		CRN212	Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome	41
1514		SCH072	Scheuermann Disease	41
1515		KMR001	Kimura Disease	41
1516		PRS051	Parastremmatic Dwarfism	41
1517		BMR001	Boomerang Dysplasia	40
1518		HYP682	Hypertelorism, Teebi Type	40
1519		OST115	Osteonecrosis of the Jaw	40
1520	c	SYN060	Syndactyly, Type Iii	40
1521	P	SCL057	Scoliosis, Isolated 1	40
1522	P	VTM036	Vitamin D-Dependent Rickets	40
1523	c	ATL015	Atelosteogenesis, Type Ii	40
1524	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	40
1525	c	BDY007	Body Mass Index Quantitative Trait Locus 1	40
1526	c	NML010	Nemaline Myopathy 7	39
1527	c	SCK010	Seckel Syndrome 4	39
1528	c	BRT028	Brittle Cornea Syndrome 1	39
1529		EKN001	Eiken Syndrome	39
1530	P	OTF004	Otofaciocervical Syndrome 1	39
1531	c	DNT021	Dent Disease 2	39
1532	c	BLD126	Bleeding Disorder, Platelet-Type, 18	39
1533		SLT009	Solitary Bone Cyst	39
1534	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	39
1535		OSG001	Osgood-Schlatter's Disease	38
1536	c	OST133	Osteogenesis Imperfecta, Type Xi	38
1537	c	NML005	Nemaline Myopathy 4	38
1538		FML307	Familial Calcium Pyrophosphate Deposition	38
1539	c	BRC080	Brachydactyly, Type A1, B	38
1540		ALG027	Al-Gazali-Bakalinova Syndrome	38
1541	c	INF076	Inflammatory Bowel Disease 18	38
1542		CLR005	Clear Cell Chondrosarcoma	38
1543	c	LRS002	Larsen-Like Syndrome	37
1544	c	SVR040	Severe Congenital Nemaline Myopathy	37
1545	c	BRC062	Brachydactyly, Type D	37
1546		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	37
1547	P	SPN448	Spondyloepimetaphyseal Dysplasia with Joint Laxity	37
1548	c	SCK029	Seckel Syndrome 7	37
1549	c	NML022	Nemaline Myopathy 10	37
1550	c	OST128	Osteogenesis Imperfecta, Type Xii	36
1551	c	BLD125	Bleeding Disorder, Platelet-Type, 17	36
1552	c	INT274	Intermediate Congenital Nemaline Myopathy	36
1553	c	CFF011	Coffin-Siris Syndrome 6	36
1554	c	OST123	Osteogenesis Imperfecta, Type Xiii	36
1555	c	BLD157	Bleeding Disorder, Platelet-Type, 9	36
1556		SPN154	Spondyloperipheral Dysplasia	36
1557		ISL122	Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia	36
1558	c	INF093	Inflammatory Bowel Disease 14	36
1559	c	BLD120	Bleeding Disorder, Platelet-Type, 8	35
1560		DYS048	Dysplasia Epiphysealis Hemimelica	35
1561	c	OST130	Osteogenesis Imperfecta, Type Ix	35
1562		KKC001	Kikuchi Disease	35
1563		FBR089	Fibrosclerosis, Multifocal	35
1564		NNL001	Non-Langerhans-Cell Histiocytosis	35
1565	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	35
1566	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	35
1567	c	BLD152	Bleeding Disorder, Platelet-Type, 16	35
1568		BNS004	Bone Squamous Cell Carcinoma	35
1569		SKL001	Skeletal Tuberculosis	35
1570	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	35
1571	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	34
1572	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	34
1573		XNT009	Xanthoma Disseminatum	34
1574		PDT021	Pediatric Osteosarcoma	34
1575	c	SYS061	Systemic Lupus Erythematosus 16	34
1576	c	BTH006	Bethlem Myopathy 2	34
1577	c	BRC060	Brachydactyly, Type E2	34
1578		AST002	Astroblastoma	34
1579		DGT005	Digital Arthropathy-Brachydactyly, Familial	34
1580	c	LTH026	Lethal Congenital Contracture Syndrome 4	34
1581	c	LVR030	Liver Failure, Infantile, Transient	34
1582	c	OST127	Osteogenesis Imperfecta, Type X	34
1583	c	SMT018	Smith-Mccort Dysplasia 2	34
1584	c	BRT029	Brittle Cornea Syndrome 2	33
1585		MXD012	Mixed Oligodendroglioma-Astrocytoma	33
1586		PRX093	Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias	33
1587	c	BLD156	Bleeding Disorder, Platelet-Type, 14	33
1588		MYL002	Myelophthisic Anemia	33
1589	c	NML021	Nemaline Myopathy 9	33
1590	P	DSB002	Desbuquois Dysplasia	33
1591	c	OST109	Osteogenesis Imperfecta, Type Xiv	33
1592	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	33
1593		PLY021	Polyradiculopathy	33
1594	P	NNT037	Neonatal Inflammatory Skin and Bowel Disease	33
1595	c	OST176	Osteogenesis Imperfecta, Type Xx	33
1596		OSB001	Osebold-Remondini Syndrome	33
1597	c	MRG009	Meier-Gorlin Syndrome 2	33
1598		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	33
1599	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	32
1600		BRC004	Brachydactyly-Syndactyly Syndrome	32
1601		SHR108	Short Stature, Idiopathic, X-Linked	32
1602		TLN002	Telangiectatic Osteogenic Sarcoma	32
1603	c	THR069	Three M Syndrome 2	32
1604		CYS041	Cystic Angiomatosis of Bone, Diffuse	32
1605		ART165	Arthrogryposis Multiplex Congenita 3, Myogenic Type	31
1606		SPN151	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	31
1607		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	31
1608		KHL001	Kohler's Disease	31
1609	c	CRP022	Carpenter Syndrome 2	31
1610	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	31
1611	P	HRD214	Hereditary Periodic Fever Syndrome	31
1612	P	EXT032	Extraosseous Osteosarcoma	31
1613	c	SCN005	Secondary Hypertrophic Osteoarthropathy	31
1614	c	SCK032	Seckel Syndrome 6	31
1615		FMR018	Femoral-Facial Syndrome	31
1616		AXL003	Axial Osteomalacia	31
1617		VSC050	Vascular Malformation, Primary Intraosseous	31
1618	c	INF194	Infantile Liver Failure Syndrome	30
1619		CHN003	Chondroblastic Osteosarcoma	30
1620		ATN022	Autoinflammation, Antibody Deficiency, and Immune Dysregulation	30
1621	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	30
1622	c	ADL054	Adult Brain Stem Glioma	30
1623	c	CRN281	Craniosynostosis 7	30
1624	c	OST139	Osteogenesis Imperfecta, Type Xvi	30
1625	c	MRG010	Meier-Gorlin Syndrome 3	30
1626	c	ERL004	Early Yaws	30
1627		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	30
1628	c	NML007	Nemaline Myopathy 6	30
1629		ORB002	Orbit Embryonal Rhabdomyosarcoma	30
1630	c	FNC062	Fanconi Anemia, Complementation Group S	29
1631	c	INF138	Infantile Liver Failure Syndrome 2	29
1632	c	FRN033	Frontonasal Dysplasia 2	29
1633		INN003	Iniencephaly	29
1634	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	29
1635		SPN018	Spinal Cord Astrocytoma	29
1636		HYP364	Hyperostosis Frontalis Interna	29
1637		CNG545	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	29
1638		CRN264	Craniosynostosis with Fibular Aplasia	29
1639		PRP024	Peripheral Osteosarcoma	29
1640		MCR326	Microcephaly-Micromelia Syndrome	29
1641	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	29
1642		MSM016	Mesomelic Dysplasia, Kantaputra Type	28
1643	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	28
1644	c	RNL016	Renal Infectious Disease	28
1645	c	MLT060	Multiple Synostoses Syndrome 2	28
1646		ACR099	Acrofacial Dysostosis, Catania Type	28
1647		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	28
1648		WLD004	Wildervanck Syndrome	28
1649	P	MLT017	Multifocal Osteogenic Sarcoma	28
1650	c	BRC108	Brachydactyly, Type A3	28
1651	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	28
1652	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	28
1653		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	27
1654	c	BLD154	Bleeding Disorder, Platelet-Type, 12	27
1655		MCR324	Microphthalmia/coloboma and Skeletal Dysplasia Syndrome	27
1656		LPS001	Liposarcoma of Bone	27
1657		EVN003	Even-Plus Syndrome	27
1658		CHR588	Chromosome 8q22.1 Duplication Syndrome	27
1659	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	27
1660	c	PSD107	Pseudo-Torch Syndrome 2	27
1661		SYS006	Say Syndrome	27
1662		STC018	Stac3 Disorder	27
1663		INF118	Inflammatory Myopathy with Abundant Macrophages	27
1664		CLF045	Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa	27
1665		FTL029	Fetal Thalidomide Syndrome	27
1666	c	BLD133	Bleeding Disorder, Platelet-Type, 20	27
1667	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	26
1668	P	FRM004	Foramen Magnum Meningioma	26
1669		SML003	Small Cell Osteogenic Sarcoma	26
1670		ISL089	Isolated Scaphocephaly	26
1671	P	VTM003	Vitamin Metabolic Disorder	26
1672	c	ANK021	Ankylosing Spondylitis 1	26
1673		CDG001	Cdags Syndrome	26
1674		DQR001	De Quervain Disease	26
1675		ACR104	Acrofacial Dysostosis Syndrome of Rodriguez	26
1676	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	26
1677		DGT002	Digital Clubbing, Isolated Congenital	26
1678		THR032	Thoracolaryngopelvic Dysplasia	26
1679	P	MCR327	Microcephaly, Short Stature, and Limb Abnormalities	25
1680		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	25
1681		CRN266	Craniofacial Dyssynostosis with Short Stature	25
1682	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	25
1683		LBN004	Liebenberg Syndrome	25
1684	P	ACR093	Acrofrontofacionasal Dysostosis	25
1685	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	25
1686	c	HYP720	Hyperparathyroidism 4	25
1687		ULN023	Ulnar Hypoplasia	25
1688		WSM003	Weismann-Netter Syndrome	25
1689		HGH023	High Bone Mass Osteogenesis Imperfecta	25
1690	c	ACQ027	Acquired Cutis Laxa	25
1691		KYP002	Kyphomelic Dysplasia	25
1692		KNB002	Kienbock's Disease	25
1693	c	INF073	Inflammatory Bowel Disease 12	25
1694		IMM146	Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities	25
1695		CRN272	Craniometadiaphyseal Dysplasia	25
1696	c	JVN047	Juvenile Spondyloarthropathy	25
1697	c	ORF046	Orofaciodigital Syndrome Xvi	25
1698	c	BRC053	Brachyolmia Type 2	25
1699	c	OTS005	Otosclerosis 1	25
1700	c	TTR029	Tetraamelia Syndrome 2	24
1701	P	TRC034	Torch Syndrome	24
1702	c	LTH032	Lethal Congenital Contracture Syndrome 7	24
1703	c	FNC061	Fanconi Anemia, Complementation Group W	24
1704	P	ZYG003	Zygodactyly 1	24
1705	c	LTH030	Lethal Congenital Contracture Syndrome 8	24
1706		CRN200	Craniosynostosis and Dental Anomalies	24
1707		GNR023	Generalized Eruptive Histiocytosis	24
1708	c	ANK023	Ankylosing Spondylitis 3	24
1709		IMM219	Immunodeficiency 57 with Autoinflammation	24
1710	c	THR023	Thrombophilia Due to Thrombomodulin Defect	24
1711	c	ANX008	Anauxetic Dysplasia 2	24
1712		TTH001	Tooth Ankylosis	24
1713	c	JVN019	Juvenile Temporal Arteritis	24
1714	c	SCK038	Seckel Syndrome 10	24
1715		BSL048	Basilicata-Akhtar Syndrome	24
1716	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	23
1717		MMM002	Mammary-Digital-Nail Syndrome	23
1718		SPN228	Spondyloepiphyseal Dysplasia, Nishimura Type	23
1719		IDP069	Idiopathic Avascular Necrosis	23
1720		NNH013	Non-Histaminic Angioedema	23
1721	P	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	23
1722	c	BLD127	Bleeding Disorder, Platelet-Type, 19	23
1723		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	23
1724		IGG014	Igg4-Related Sclerosing Cholangitis	23
1725		MTP004	Metaphyseal Acroscyphodysplasia	23
1726		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	23
1727		SPN365	Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies	23
1728		MLR010	Melorheostosis with Osteopoikilosis	23
1729	c	ADL068	Adult-Onset Nemaline Myopathy	23
1730		INT073	Intracortical Osteogenic Sarcoma	22
1731	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	22
1732		GLB014	Glioblastoma Neural Subtype	22
1733		XLN086	X-Linked Ehlers-Danlos Syndrome	22
1734	c	ACR105	Acrofrontofacionasal Dysostosis 2	22
1735	c	TWN010	Townes-Brocks Syndrome 2	22
1736	c	BLD121	Bleeding Disorder, Platelet-Type, 15	22
1737	c	CFF016	Coffin-Siris Syndrome 11	22
1738	c	BLD132	Bleeding Disorder, Platelet-Type, 21	22
1739		SPN425	Spondyloepimetaphyseal Dysplasia, Krakow Type	22
1740	c	BLD123	Bleeding Disorder, Platelet-Type, 13	22
1741	P	RGD004	Rigid Spine Muscular Dystrophy	21
1742		MYP154	Myopathy, Congenital, with Fast-Twitch Fiber Atrophy	21
1743	c	LTH031	Lethal Congenital Contracture Syndrome 6	21
1744		PCM001	Pacman Dysplasia	21
1745		MSL005	Mseleni Joint Disease	21
1746	c	INF190	Infantile Liver Failure Syndrome 3	21
1747		CHR159	Charlie M Syndrome	21
1748		RHZ008	Rhizomelic Syndrome	21
1749	c	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	21
1750		PLY135	Polydactyly, Postaxial, with Progressive Myopia	21
1751	c	JVN025	Juvenile Primary Osteoporosis	21
1752	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	21
1753	c	SYS069	Systemic Lupus Erythematosus 6	21
1754		JNT001	Joint Laxity, Familial	21
1755	c	STS009	Sotos Syndrome 3	21
1756	c	CRN216	Craniosynostosis 5	21
1757		HND012	Handigodu Joint Disease	20
1758		ACR107	Acrofacial Dysostosis, Palagonia Type	20
1759		PRG077	Progressive Nodular Histiocytosis	20
1760		PTL010	Patella Aplasia-Hypoplasia	20
1761		IND009	Indeterminate Cell Histiocytosis	20
1762		MNS012	Monostotic Fibrous Dysplasia	20
1763	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	20
1764		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	19
1765	c	BRC105	Brachydactyly, Type A1, D	19
1766	c	RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	19
1767		MZB001	Mazabraud Syndrome	19
1768		SPN353	Spondylometaphyseal Dysplasia, X-Linked	19
1769		OSL001	Oslam Syndrome	19
1770		SHR123	Short Stature and Microcephaly with Genital Anomalies	19
1771		TBT001	Tabatznik Syndrome	19
1772		PLG010	Pelger-Huet Anomaly with Mild Skeletal Anomalies	19
1773		JWC001	Jaw Cancer	19
1774	c	PLY144	Polydactyly, Postaxial, Type A7	19
1775		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	18
1776		SLC024	Slc4a1-Associated Distal Renal Tubular Acidosis	18
1777		BNC005	Bone Chondrosarcoma	18
1778	P	BRN030	Brain Ependymoma	18
1779		CHR400	Chromosome 6q11-Q14 Deletion Syndrome	18
1780	c	CNG579	Congenital Nemaline Myopathy	18
1781	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	18
1782		SMM003	Summitt Syndrome	18
1783		CRN224	Craniofaciofrontodigital Syndrome	17
1784	c	OTS007	Otosclerosis 3	17
1785	c	BLD174	Bleeding Disorder, Platelet-Type, 24	17
1786	c	SYS048	Systemic Lupus Erythematosus 8	17
1787		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	17
1788	c	HYP311	Hyperparathyroidism 3	17
1789		HMR016	Humeroradioulnar Synostosis	17
1790	c	SCL049	Scoliosis, Isolated 3	17
1791	c	CHN021	Chondrocalcinosis 1	17
1792		ANK015	Ankylosing Vertebral Hyperostosis with Tylosis	17
1793		MMB012	Membranous Cranial Ossification, Delayed	17
1794	c	BLD168	Bleeding Disorder, Platelet-Type, 22	17
1795	P	CNG348	Congenital Sialidosis Type 2	17
1796	c	SYS053	Systemic Lupus Erythematosus 5	17
1797		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	16
1798		JVN060	Juvenile Idiopathic Inflammatory Myopathy	16
1799		RDL030	Radial-Renal Syndrome	16
1800		CLD006	Cleidorhizomelic Syndrome	16
1801		BRC095	Brachydactyly, Mononen Type	16
1802		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	16
1803		DRG017	Drug-Induced Vasculitis	16
1804	c	OTS006	Otosclerosis 2	16
1805	c	PRT113	Parietal Foramina 3	16
1806	c	OTS012	Otosclerosis 10	16
1807		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	16
1808		CRD215	Cardioskeletal Syndrome, Kuwaiti Type	15
1809		VLJ001	Viljoen Kallis Voges Syndrome	15
1810		BNN002	Bone Angioendothelial Sarcoma	15
1811	c	OTS010	Otosclerosis 7	15
1812		SPN155	Spondylospinal Thoracic Dysostosis	15
1813	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	15
1814		PRM334	Primary Bone Dysplasia with Increased Bone Density	15
1815	c	SYS055	Systemic Lupus Erythematosus 12	15
1816		GGN006	Gigantiform Cementoma, Familial	15
1817		EPP005	Epiphyseal Dysplasia Hearing Loss Dysmorphism	15
1818		PRM319	Primary Bone Dysplasia	15
1819		BWN005	Bowing of Long Bones Congenital	15
1820		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	15
1821		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	15
1822		LNG102	Long-Thumb Brachydactyly Syndrome	14
1823		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	14
1824	c	PLY163	Polydactyly, Postaxial, Type A2	14
1825	c	OTS011	Otosclerosis 8	14
1826	c	OTS008	Otosclerosis 4	14
1827		SND010	Sinding-Larsen-Johansson Disease	14
1828	P	LTH050	Lethal Chondrodysplasia	14
1829	c	BRC037	Brachydactyly Type A7	14
1830		PNN003	Panner Disease	14
1831		CLV003	Clivus Meningioma	14
1832		PHL009	Phalangeal Microgeodic Syndrome	14
1833	c	RR2001	Ror2-Related Robinow Syndrome	13
1834	c	PLY053	Polydactyly, Postaxial, Type A3	13
1835		IGG012	Igg4-Related Submandibular Gland Disease	13
1836		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	13
1837		FMR013	Femoral Agenesis/hypoplasia	13
1838	c	CMP100	Campomelic Dysplasia and Related Disorders	13
1839	c	SCL058	Scoliosis, Isolated 2	12
1840	c	OTS009	Otosclerosis 5	12
1841		IDH005	Idh-Wildtype Glioblastoma	12
1842		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	12
1843		OMP011	Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects	12
1844		VGT002	Vegetative Pyoderma Gangrenosum	12
1845		CRN087	Craniomicromelic Syndrome	12
1846		RRS004	Rare Systemic Disease	12
1847	c	SYS067	Systemic Lupus Erythematosus 15	12
1848		UNC016	Unclassified Vasculitis	11
1849		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	11
1850		BCL019	B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome	11
1851		ISC019	Ischiovertebral Syndrome	11
1852		PGM031	Pgm3-Congenital Disorder of Glycosylation	11
1853		BRN023	Brain Stem Ependymoma	11
1854	c	ZYG007	Zygodactyly Type 3	11
1855		NNT046	Neonatal Dermatomyositis	11
1856		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	11
1857	c	ADL034	Adult Extraosseous Osteosarcoma	10
1858	c	ADL041	Adult Spinal Cord Ependymoma	10
1859	c	BDY009	Body Mass Index Quantitative Trait Locus 3	10
1860	c	BDY016	Body Mass Index Quantitative Trait Locus 13	10
1861		SYN002	Synchronous Multifocal Osteogenic Sarcoma	10
1862	c	SYN050	Syndactyly Type 6	10
1863	c	SCL059	Scoliosis, Isolated 4	10
1864	c	SCL060	Scoliosis, Isolated 5	10
1865		MLL024	Mueller-Weiss Syndrome	10
1866		NNT043	Neonatal Scleroderma	10
1867		SYM014	Symbrachydactyly of Hands and Feet	10
1868		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	9
1869	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	9
1870	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	9
1871		PST107	Pustular Pyoderma Gangrenosum	9
1872		LYM153	Lymphoplasmacytic Inflammatory Pseudotumor of the Liver	9
1873		ADL035	Adult Spinal Cord Glioblastoma Multiforme	9
1874	c	GM2001	Gm2 Gangliosidosis, 0 Variant	9
1875	c	ZYG006	Zygodactyly Type 2	9
1876	c	BDY008	Body Mass Index Quantitative Trait Locus 2	9
1877	c	BDY013	Body Mass Index Quantitative Trait Locus 5	9
1878	c	BDY018	Body Mass Index Quantitative Trait Locus 15	9
1879		IDH004	Idh-Mutant Glioblastoma	9
1880	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	9
1881		ANG057	Angioosteohypotrophic Syndrome	9
1882		HMR042	Humero-Ulnar Synostosis	8
1883		CNG566	Congenital Vascular Bone Syndrome	8
1884		MDS009	Mediastinal Osteogenic Sarcoma	8
1885		CLC050	Calciphylaxis Cutis	8
1886	c	BRC035	Brachydactyly Type A5	8
1887	c	BDY014	Body Mass Index Quantitative Trait Locus 6	8
1888		GLB013	Glioblastoma Mesenchymal Subtype	8
1889		ANP033	Anaplastic Oligodendroglioma, Idh-Mutant and 1p/19q-Codeleted	8
1890		ADL021	Adult Brainstem Gliosarcoma	8
1891		CHS003	Chest Wall Bone Cancer	8
1892		IDH003	Idh-Wildtype Anaplastic Astrocytoma	7
1893		STR017	Sternum Cancer	7
1894		FML352	Familial Scaphocephaly Syndrome	7
1895		LNG027	Long Bones of Lower Limb Cancer	7
1896	c	RNR002	Ren-Related Kidney Disease	7
1897		SVR046	Severe Lateral Tibial Bowing with Short Stature	7
1898		RRR002	Rare Rheumatologic Disease	7
1899		IDH002	Idh-Mutant Anaplastic Astrocytoma	7
1900	c	RRH011	Rare Hyperparathyroidism	7
1901	P	BNG037	Benign Angiitis of the Central Nervous System	6
1902		OTM002	Otomandibular Dysplasia	6
1903		BNM012	Bone Ameloblastoma	6
1904		PNL001	Pineal Gland Astrocytoma	6
1905		CHL023	Childhood Optic Tract Astrocytoma	6
1906		ORL028	Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy	6
1907		PST098	Postinfectious Vasculitis	6
1908		MXD011	Mixed Astrocytoma-Ependymoma	6
1909		VSC036	Visceral Calciphylaxis	6
1910		CNG610	Congenital Hypoplasia of Thumb	6
1911		PRM320	Primary Bone Dysplasia with Micromelia	5
1912		PRM333	Primary Bone Dysplasia with Decreased Bone Density	5
1913		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
1914	c	RRD022	Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection	5
1915		CHL001	Childhood Parosteal Osteogenic Sarcoma	5
1916	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	5
1917		XLN221	X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome	5
1918		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	5
1919		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	4
1920		NNT057	Neonatal Osteosclerotic Dysplasia	4
1921		SPN449	Spinal Ependymoma, Mycn	4
1922		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	4
1923		GLB011	Glioblastoma Classical Subtype	3
1924		DFF040	Diffuse Glioma, H3 G34 Mutant	3
1925		YP1001	Yap1-Mamld1 Fusion-Positive Supratentorial Ependymoma	3
1926	c	CRN093	Craniosynostosis Autosomal Dominant	3
1927	P	LGB001	Leg Absence Deformity Cataract	3
1928		OTM003	Otomandibular Dysplasia Associated with Monogenic Syndromes	3
1929		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	3
1930		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	3
1931	c	OTS004	Otosclerosis, Familial	3
1932		SYN119	Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy	3
1933		ECT112	Ectrodactyly with and Without Other Manifestations	3
1934		OVR117	Overgrowth Syndrome with 2q37 Translocation	3
1935		SYN142	Syndrome with Synostosis or Other Joint Formation Defect	3
1936	P	CRP001	Carpal Tunnel Syndrome	65
1937	c	CRP037	Carpal Tunnel Syndrome 2	21
1938		MYL031	Myeloproliferative Neoplasm	66
1939	P	LKM002	Leukemia	65
1940	c	ACT073	Acute Leukemia	59
1941	c	CHR418	Chronic Leukemia	48
1942	c	SBC006	Subacute Leukemia	19
1943	c	THR092	Thrombophilia Due to Thrombin Defect	74
1944		SCH036	Scheie Syndrome	73
1945	P	GRF003	Graft-Versus-Host Disease	71
1946		SMT004	Smith-Lemli-Opitz Syndrome	69
1947	P	TMP003	Temporal Arteritis	68
1948	P	OCL013	Oculodentodigital Dysplasia	66
1949	P	FLL037	Follicular Lymphoma	66
1950	P	OLG002	Oligodendroglioma	66
1951	P	CLD001	Cleidocranial Dysplasia	64
1952		MSC007	Muscle Hypertrophy	64
1953	P	PRT008	Proteus Syndrome	63
1954		RBR002	Roberts-Sc Phocomelia Syndrome	63
1955	P	CFF008	Coffin-Siris Syndrome 1	63
1956		NLP001	Nail-Patella Syndrome	63
1957	P	HYD006	Hydrocephalus	62
1958	P	STS008	Sotos Syndrome 1	62
1959	P	TRC072	Treacher Collins Syndrome 1	62
1960		CSY001	C Syndrome	61
1961	P	FNG006	Feingold Syndrome 1	61
1962	P	HYP035	Hypophosphatasia	61
1963		PSR001	Psoriatic Arthritis	61
1964		CHR001	Churg-Strauss Syndrome	61
1965	P	VSC011	Vasculitis	61
1966		SPN186	Spinal Cord Injury	60
1967	P	ADM011	Adams-Oliver Syndrome	60
1968	c	PRM005	Primary Hyperparathyroidism	59
1969		ANT009	Antithrombin Iii Deficiency	59
1970		PRM057	Paramyotonia Congenita of Von Eulenburg	59
1971		MYP136	Myopathy, Centronuclear, X-Linked	58
1972		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	58
1973	P	SCK004	Seckel Syndrome	58
1974	c	ANG068	Angioedema, Hereditary, Type I	58
1975		SPT004	Septic Arthritis	58
1976		MNK003	Muenke Syndrome	57
1977	c	LYS021	Loeys-Dietz Syndrome 3	57
1978		INC002	Inclusion Body Myositis	56
1979	c	RBN021	Rubinstein-Taybi Syndrome 1	56
1980	P	MLT007	Multiple Epiphyseal Dysplasia	56
1981	c	RGD003	Rigid Spine Muscular Dystrophy 1	56
1982		ISL003	Isolated Growth Hormone Deficiency	56
1983	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	55
1984	c	OST164	Osteoporosis, Juvenile	55
1985	P	MRG008	Meier-Gorlin Syndrome 1	55
1986	c	CHR417	Chronic Graft Versus Host Disease	55
1987	P	HYP760	Hypothyroidism, Congenital, Nongoitrous, 2	54
1988		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	54
1989	c	HYP260	Hypophosphatemic Rickets, Autosomal Dominant	54
1990		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	54
1991	c	SMP007	Simpson-Golabi-Behmel Syndrome, Type 1	53
1992		DNR002	Duane-Radial Ray Syndrome	53
1993		WYR002	Weyers Acrofacial Dysostosis	53
1994		ERD001	Erdheim-Chester Disease	53
1995		ACR013	Acrodysostosis	53
1996		TSY002	Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations	52
1997		OST032	Osteofibrous Dysplasia	52
1998	P	BRC006	Brachydactyly	52
1999	c	HYP374	Hypothyroidism, Congenital, Nongoitrous, 1	51
2000	P	ECT100	Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1	51
2001	c	ACT135	Acute Graft Versus Host Disease	51
2002		PGM029	Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked	50
2003	P	PRX021	Proximal Symphalangism	50
2004	c	CNG216	Congenital Hydrocephalus	50
2005		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	50
2006	c	ACH042	Achondrogenesis, Type Ib	50
2007		CLL036	Culler-Jones Syndrome	50
2008	P	SMP003	Simpson-Golabi-Behmel Syndrome	49
2009		MRS004	Marshall-Smith Syndrome	49
2010	P	MNT135	Mental Retardation, X-Linked, Syndromic 13	49
2011	P	BRN035	Brain Stem Glioma	49
2012	c	FNC046	Fanconi Anemia, Complementation Group P	49
2013		ACR002	Acrocapitofemoral Dysplasia	49
2014	P	NML001	Nemaline Myopathy	49
2015	c	GRN061	Granulomatous Disease, Chronic, Autosomal Recessive, 4	49
2016		CGN006	Cogan Syndrome	49
2017	c	CNG194	Congenital Disorder of Glycosylation, Type Ig	49
2018		CRR002	Currarino Syndrome	49
2019		RSD004	Rosai-Dorfman Disease	49
2020	c	FML253	Familial Cold Autoinflammatory Syndrome 3	48
2021	P	CRY007	Cryoglobulinemia, Familial Mixed	48
2022	c	MCK033	Meckel Syndrome, Type 4	48
2023	c	HYD019	Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius	48
2024		MLR003	Melorheostosis	48
2025	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	48
2026		SPN405	Spondyloepiphyseal Dysplasia Tarda, X-Linked	47
2027		FBR002	Fibrosarcoma of Bone	47
2028		GRW007	Growth Hormone Deficiency	47
2029	P	SMT022	Smith-Mccort Dysplasia 1	47
2030	c	MCK012	Meckel Syndrome, Type 6	47
2031		DFF039	Diffuse Midline Glioma, H3 K27m-Mutant	47
2032		CMP012	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	47
2033		PDT035	Pediatric Systemic Lupus Erythematosus	47
2034		OST062	Osteoarthritis with Mild Chondrodysplasia	46
2035		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	46
2036	P	PRR002	Pure Red-Cell Aplasia	46
2037		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	46
2038	P	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	46
2039	c	HYP795	Hypothyroidism, Congenital, Nongoitrous, 4	46
2040	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	46
2041	P	HYP776	Hyperparathyroidism, Neonatal Severe	46
2042	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	46
2043	c	MCK014	Meckel Syndrome, Type 5	46
2044	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	46
2045		HGH043	High Grade Glioma	46
2046	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	45
2047	c	FBR029	Fibrochondrogenesis 1	45
2048		PLN006	Poland Syndrome	45
2049		MXD026	Mixed Glioma	45
2050	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	45
2051	c	EHL087	Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	45
2052	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	45
2053	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	45
2054	c	THN010	Thanatophoric Dysplasia, Type Ii	44
2055	c	FLL041	Follicular Lymphoma 1	44
2056		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	44
2057	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	44
2058	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	44
2059		IMM082	Immunodeficiency 18	44
2060		CTS005	Catastrophic Antiphospholipid Syndrome	43
2061		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	43
2062		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	43
2063	P	SPL061	Split Hand-Foot Malformation	43
2064		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	43
2065	P	FBR003	Fibrous Histiocytoma	43
2066		GNT031	Genitopatellar Syndrome	42
2067	c	FRN049	Frontometaphyseal Dysplasia 1	42
2068		HYP648	Hypertension and Brachydactyly Syndrome	42
2069	P	OSS001	Ossifying Fibroma	42
2070		PYM001	Pyomyositis	42
2071	P	THP004	Thiopurines, Poor Metabolism of, 1	41
2072	c	CNG197	Congenital Disorder of Glycosylation, Type Ih	41
2073		OLV002	Oliver Syndrome	41
2074		OST014	Osteopoikilosis	41
2075		END059	Endocrine-Cerebroosteodysplasia	41
2076		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	41
2077	P	SYN061	Syndactyly, Type Iv	41
2078		MKL001	Mikulicz Disease	41
2079		ANP009	Anaplastic Oligodendroglioma	41
2080	c	CTS031	Cutis Laxa, Autosomal Dominant 2	41
2081		ACH001	Acheiropody	40
2082	c	SMP005	Simpson-Golabi-Behmel Syndrome, Type 2	40
2083		PTL009	Patella, Chondromalacia of	40
2084	P	LTH003	Lethal Congenital Contracture Syndrome	40
2085