Bone Diseases Category (3234 diseases)

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

#	Family	MCID	Name	MIFTS
1		GRH001	Gorham's Disease	44
2	P	MLT065	Multicentric Osteolysis, Nodulosis, and Arthropathy	44
3		CRT017	Cartilage Disease	58
4	c	HRD104	Hereditary Multiple Osteochondromas	44
5	c	BNM030	Bone Mineral Density Quantitative Trait Locus 16	23
6		RHM032	Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis	13
7		TRC115	Tracheopathia Osteoplastica	33
8		MTP003	Metaphyseal Dysplasia Without Hypotrichosis	29
9		QZM001	Qazi Markouizos Syndrome	23
10		DNT050	Dentin Dysplasia with Sclerotic Bones	15
11	P	MCR258	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	57
12	c	MCR240	Microcephalic Osteodysplastic Primordial Dwarfism, Type I	55
13	c	MCR331	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	24
14	c	JVN025	Juvenile Primary Osteoporosis	21
15		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	45
16		OST145	Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome	8
17	P	RHM011	Rheumatoid Arthritis	79
18	c	JVN010	Juvenile Rheumatoid Arthritis	66
19	c	PGT007	Paget Disease of Bone 3	41
20	c	PGT009	Paget Disease of Bone 2, Early-Onset	37
21		ANT057	Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis	34
22	c	RHM021	Rheumatoid Arthritis, Systemic Juvenile	31
23	c	BNM018	Bone Mineral Density Quantitative Trait Locus 3	30
24		SPL027	Split-Hand/foot Malformation with Long Bone Deficiency 1	24
25		OSB002	Osebold Skeletal Dysplasia/osteolysis Syndrome	5
26		FLT006	Floating-Harbor Syndrome	56
27		WNC001	Winchester Syndrome	45
28	c	EXS020	Exostoses, Multiple, Type Ii	39
29	P	SHR126	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2	35
30	c	PGT011	Paget Disease of Bone 6	27
31		FRN047	Frontonasal Dysplasia with Alar Clefts	16
32	c	BNM022	Bone Mineral Density Quantitative Trait Locus 8	38
33	c	HYP520	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	30
34	c	PLM141	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4	27
35		SKL033	Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age	23
36		CHR663	Chromosome 17p13.3, Telomeric, Duplication Syndrome	22
37	c	OST180	Osteogenesis Imperfecta, Type Xxii	22
38		BRS030	Breast Osteosarcoma	18
39		NVC001	Navicular Bone, Accessory	18
40		KDN010	Kidney Osteogenic Sarcoma	13
41	P	BNM029	Bone Mineral Density Quantitative Trait Locus 15	47
42		CHN004	Chondroblastoma	44
43		GRN034	Grange Syndrome	39
44	P	OST028	Osteochondroma	38
45		SKL003	Skeletal Muscle Cancer	30
46	P	PLY187	Polyarticular Juvenile Idiopathic Arthritis	27
47		SHR084	Short Stature with Nonspecific Skeletal Abnormalities	24
48		SYN031	Synovial Chondromatosis	23
49	c	PLY065	Polyarticular Onset Juvenile Idiopathic Arthritis	22
50		PRD014	Prader-Willi Habitus, Osteopenia, and Camptodactyly	20
51	c	BNM031	Bone Mineral Density Quantitative Trait Locus 17	17
52		FRB005	Freiberg's Disease	16
53		OST158	Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski	12
54	c	BNM026	Bone Mineral Density Quantitative Trait Locus 12	10
55		WDM002	Wiedemann Oldigs Oppermann Syndrome	5
56	P	MNS018	Monosomy 7 Myelodysplasia and Leukemia Syndrome 1	35
57	c	SHR125	Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 1	25
58	c	BNM016	Bone Mineral Density Quantitative Trait Locus 1	25
59	c	PLM200	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6	20
60		OST172	Osteochondrodysplasia, Brachydactyly, and Overlapping Malformed Digits	18
61	P	LYS001	Loeys-Dietz Syndrome	65
62	c	LYS019	Loeys-Dietz Syndrome 1	61
63	c	LYS018	Loeys-Dietz Syndrome 2	56
64	c	LYS017	Loeys-Dietz Syndrome 4	55
65	P	OTT001	Otitis Externa	42
66	P	GLY112	Glycosylphosphatidylinositol Biosynthesis Defect 1	40
67	c	BRC047	Bruck Syndrome 1	33
68	c	MLG042	Malignant Otitis Externa	28
69	c	GLY103	Glycosylphosphatidylinositol Biosynthesis Defect 15	28
70	c	ERL004	Early Yaws	28
71	c	GLY106	Glycosylphosphatidylinositol Biosynthesis Defect 11	28
72	P	CMB108	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1	25
73	c	LYS031	Loeys-Dietz Syndrome 6	24
74	c	GLY107	Glycosylphosphatidylinositol Biosynthesis Defect 17	24
75	c	CMB109	Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2	23
76	c	OST171	Osteopetrosis, Autosomal Dominant 3	23
77	c	GLY104	Glycosylphosphatidylinositol Biosynthesis Defect 16	22
78	c	LTY001	Late Yaws	20
79	c	PRM151	Primary Bone Lymphoma	19
80		VLF001	Velofacioskeletal Syndrome	19
81		LSS034	Lissencephaly Type Iii and Bone Dysplasia	19
82		HYP686	Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies	19
83	c	GLY116	Glycosylphosphatidylinositol Biosynthesis Defect 25	18
84		PSD102	Pseudohermaphroditism, Female, with Skeletal Anomalies	16
85		AMD002	Amed Syndrome, Digenic	41
86	c	FNC046	Fanconi Anemia, Complementation Group P	38
87	c	BNM010	Bone Marrow Failure Syndrome 1	32
88	c	BNM032	Bone Marrow Failure Syndrome 4	29
89	c	PLY181	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2	29
90	c	CLC056	Cole-Carpenter Syndrome 1	28
91	c	BNM013	Bone Marrow Failure Syndrome 3	28
92	c	HYP759	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	26
93	c	BNM011	Bone Marrow Failure Syndrome 2	25
94		OST179	Osteootohepatoenteric Syndrome	23
95	c	BNM033	Bone Marrow Failure Syndrome 5	23
96	c	PGT006	Paget Disease of Bone 4	18
97		CL1007	Col1a1/2 Osteogenesis Imperfecta	16
98		CRT024	Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders	16
99		LTH046	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	13
100		DST098	Distal Osteosclerosis	11
101		OST156	Osteosclerosis with Ichthyosis and Fractures	10
102		SPL047	Split-Hand/foot Malformation with Long Bone Deficiency 2	9
103		SKL026	Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification	9
104		ALG005	Al Gazali Sabrinathan Nair Syndrome	7
105		PNT008	Pointer Syndrome	6
106		CNG571	Congenital Disorder of Glycosylation-Related Bone Disorder	5
107		PRR038	Pierre Robin Syndrome Associated with Bone Disease	5
108		OST175	Osteonecrosis of Genetic Origin	4
109		FLM004	Filamin-Related Bone Disorder	4
110		BZZ001	Bizzare Parosteal Osteochondromatous Proliferation	4
111	P	VNB005	Van Buchem Disease	57
112	c	ANM042	Anemia, Congenital Dyserythropoietic, Type Ii	54
113	c	TRC092	Trichorhinophalangeal Syndrome, Type I	51
114		CRN049	Craniolenticulosutural Dysplasia	49
115	P	CNG003	Congenital Dyserythropoietic Anemia	48
116	P	CRN327	Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1	43
117	c	ANM080	Anemia, Congenital Dyserythropoietic, Type Iiia	42
118	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	36
119		RHM014	Rheumatoid Vasculitis	36
120		CNG502	Congenital Heart Defects and Skeletal Malformations Syndrome	32
121		CPL004	Caplan's Syndrome	31
122	c	BRC048	Bruck Syndrome 2	31
123		CHN070	Cohen-Gibson Syndrome	31
124		OST160	Osteoid Osteoma	28
125	c	HYP831	Hyperparathyroidism, Transient Neonatal	26
126	c	CLC055	Cole-Carpenter Syndrome 2	26
127		SHR119	Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis	23
128		INT362	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	23
129		MCR307	Microspherophakia-Metaphyseal Dysplasia	22
130	c	CRN328	Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 2	21
131		MYP160	Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures	20
132	c	ANM081	Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	17
133	c	BNT008	Bent Bone Dysplasia Syndrome 2	15
134		NGH023	Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	15
135		TRC057	Trichoodontoonychial Dysplasia	13
136	c	VNB003	Van Buchem Disease Type 2	12
137		CHR633	Choroidal Osteoma, Bilateral	11
138	P	CMR001	Camurati-Engelmann Disease	61
139		BTT016	Batten-Turner Congenital Myopathy	59
140	c	MYP021	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1	47
141		49X006	49, Xxxxy Syndrome	45
142	c	RBN017	Robinow Syndrome, Autosomal Dominant 2	44
143		CHN010	Chondroma	43
144		EST007	Estrogen Resistance	43
145	P	SNG014	Singleton-Merten Syndrome	39
146	c	SNG011	Singleton-Merten Syndrome 1	34
147		SPR031	Sprengel Deformity	33
148	c	INC033	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2	31
149	P	MYP108	Myopathy, Lactic Acidosis, and Sideroblastic Anemia	30
150		SPC025	Specific Granule Deficiency 2	26
151		HNT017	Hunter-Mcalpine Craniosynostosis Syndrome	24
152		BSL042	Basilar Impression, Primary	23
153	c	CMR006	Camurati-Engelmann Disease, Type 2	23
154	c	MYP107	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3	23
155		ONY008	Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome	23
156		LCH010	Lichtenstein Syndrome	23
157		RHM013	Rheumatoid Nodulosis	20
158		INT346	Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies	20
159		INT580	Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects	20
160		ELS005	Elastoma	20
161	c	INC035	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3	19
162		NRD168	Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures	16
163		ANP010	Anaplastic Plasmacytoma	14
164		OST048	Osteopetrosis and Infantile Neuroaxonal Dystrophy	14
165		KRS001	Krauss Herman Holmes Syndrome	9
166		MRF016	Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome	5
167		PST038	Positive Rheumatoid Factor Polyarthritis	3
168	P	PLL001	Pallister-Hall Syndrome	67
169	P	SYP003	Syphilis	60
170	c	LTH007	Lethal Congenital Contracture Syndrome 1	54
171	P	NLD001	Nail Disease	54
172	c	TRC091	Trichorhinophalangeal Syndrome, Type Ii	53
173	c	LYS020	Loeys-Dietz Syndrome 5	51
174		HMF009	Hemifacial Hyperplasia	51
175	P	CNT116	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a	51
176	c	NLD009	Nail Disorder, Nonsyndromic Congenital, 1	49
177	P	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	48
178		EHL034	Ehlers-Danlos Syndrome, Hypermobility Type	45
179	c	NLD014	Nail Disorder, Nonsyndromic Congenital, 4	43
180	c	CNG033	Congenital Syphilis	42
181	c	CRB098	Cerebrooculofacioskeletal Syndrome 2	42
182	c	DYS173	Dyskeratosis Congenita, Autosomal Recessive 6	40
183	c	TRC093	Trichorhinophalangeal Syndrome, Type Iii	39
184	c	LTH008	Lethal Congenital Contracture Syndrome 2	39
185	c	PLL017	Pallister-Hall-Like Syndrome	38
186	c	CRB100	Cerebrooculofacioskeletal Syndrome 4	38
187	c	SCN006	Secondary Syphilis	37
188	c	LTH026	Lethal Congenital Contracture Syndrome 4	37
189	c	NLD015	Nail Disorder, Nonsyndromic Congenital, 8	36
190	c	NLD012	Nail Disorder, Nonsyndromic Congenital, 3	36
191	c	SMT018	Smith-Mccort Dysplasia 2	35
192	c	NLD006	Nail Disorder, Nonsyndromic Congenital, 9	35
193		SLT001	Solitary Osseous Plasmacytoma	33
194		ACR062	Acroosteolysis	33
195		TRN004	Trench Fever	33
196		MND031	Mandibuloacral Dysplasia Progeroid Syndrome	33
197	c	PRM022	Primary Syphilis	32
198	c	HYP788	Hypophosphatemic Rickets, Autosomal Recessive, 1	32
199	c	HYP369	Hypophosphatemic Rickets, Autosomal Recessive, 2	32
200	c	LTC001	Late Congenital Syphilis	32
201		WLL029	Williams-Campbell Syndrome	31
202		WDW001	Widow's Peak	31
203	P	TRC031	Trichorhinophalangeal Syndrome	30
204	c	PSD104	Pseudohypoparathyroidism, Type Ii	29
205	c	DYS144	Dyskeratosis Congenita, Autosomal Recessive 2	29
206	c	LTH047	Lethal Congenital Contracture Syndrome 3	29
207	c	ERL002	Early Congenital Syphilis	28
208	c	NLD007	Nail Disorder, Nonsyndromic Congenital, 7	28
209	c	SHR129	Short-Rib Thoracic Dysplasia 21 Without Polydactyly	28
210		OST008	Osteosclerotic Myeloma	27
211	c	CNT117	Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b	26
212	c	LTH029	Lethal Congenital Contracture Syndrome 9	26
213	c	LTH032	Lethal Congenital Contracture Syndrome 7	26
214	c	LTH039	Lethal Congenital Contracture Syndrome 11	26
215	c	LTH030	Lethal Congenital Contracture Syndrome 8	25
216	c	TYP042	Type Ii Collagen Disorders	25
217		TRS030	Tarsal Coalition	25
218	c	SNG012	Singleton-Merten Syndrome 2	24
219	c	LTH031	Lethal Congenital Contracture Syndrome 6	23
220		RBB001	Ribbing Disease	21
221	P	SKL032	Skeletal Muscle Disease	21
222		BNL001	Bone Leiomyosarcoma	20
223	c	NLD011	Nail Disorder, Nonsyndromic Congenital, 2	20
224		HYP754	Hypophosphatemic Bone Disease	20
225	c	CHN021	Chondrocalcinosis 1	19
226	c	NNS071	Nonsyndromic Congenital Nail Disorder	19
227		SKL027	Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal	17
228		PLY028	Polycystic Bone Disease	17
229	c	BLN020	Blount Disease, Infantile	17
230	c	NLD013	Nail Disorder, Nonsyndromic Congenital, 5	16
231	c	NLD010	Nail Disorder, Nonsyndromic Congenital, 6	16
232		CTN029	Cutaneous-Skeletal Hypophosphatemia Syndrome	16
233		SYM012	Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch	16
234		PRR011	Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies	15
235		CLB032	Coloboma of Macula and Skeletal Anomalies	14
236	c	CLC009	Clcn7-Related Osteopetrosis	14
237		MCR074	Micromelic Bone Dysplasia with Cloverleaf Skull	14
238		VNB002	Van Bogaert-Hozay Syndrome	14
239		HRS040	Hirsutism, Skeletal Dysplasia, and Mental Retardation	13
240		SKL024	Skeletal-Extraskeletal Angiomatosis	13
241		BLN021	Blount Disease, Adolescent	13
242		TRC113	Trichoodontoonychial Dysplasia with Bone Deficiency	12
243	c	BNM021	Bone Mineral Density Quantitative Trait Locus 7	12
244	c	GL3002	Gli3-Related Pallister-Hall Syndrome	11
245		EXP005	Expansile Bone Lesions	11
246		THN012	Thanatophoric Dysplasia, Glasgow Variant	11
247		HYD069	Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism	10
248		NSL024	Nasal Bones, Absence of	10
249		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	10
250	P	TYP045	Type 2 Collagen-Related Bone Disorder	10
251	c	BNM017	Bone Mineral Density Quantitative Trait Locus 2	9
252		RRG015	Rare Genetic Bone Disease	9
253		SST002	Sost-Related Sclerosing Bone Dysplasias	9
254	c	BNM024	Bone Mineral Density Quantitative Trait Locus 10	9
255		MGR005	Megarbane Syndrome	9
256		HYP792	Hypouricemia, Hypercalcinuria, and Decreased Bone Density	9
257	c	BNM028	Bone Mineral Density Quantitative Trait Locus 14	8
258	c	BNM023	Bone Mineral Density Quantitative Trait Locus 9	8
259	c	BNM019	Bone Mineral Density Quantitative Trait Locus 5	8
260	c	BNM027	Bone Mineral Density Quantitative Trait Locus 13	8
261		PNS013	Panostotic Fibrous Dysplasia	8
262		PBC001	Pubic Bone Dysplasia	8
263		GNT125	Genetic Skeletal Muscle Disease	8
264	c	BNM014	Bone Mineral Density Quantitative Trait Locus 4	8
265	c	BNM020	Bone Mineral Density Quantitative Trait Locus 6	8
266	c	BNM025	Bone Mineral Density Quantitative Trait Locus 11	8
267		BNP003	Bone Pain, Periodic	7
268		OST155	Osteomas of Mandible	7
269	P	BNS005	Bone Size Quantitative Trait Locus 1	7
270		IRD004	Iridogoniodysgenesis and Skeletal Anomalies	7
271		FYP001	Faye-Petersen-Ward-Carey Syndrome	7
272	c	TRP028	Trpv4-Related Bone Disorder	7
273		CRN080	Craniofacial and Skeletal Defects	6
274		PRM165	Primary Plasmacytoma of the Bone	6
275	c	BNS006	Bone Size Quantitative Trait Locus 2	6
276		HKF001	Ho Kaufman Mcalister Syndrome	5
277		CRS015	Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age	5
278		CHT003	Chitty Hall Webb Syndrome	5
279		RRG025	Rare Genetic Systemic or Rheumatologic Disease	4
280		BWN008	Bowing of Long Bones, Asymmetric and Symmetric	4
281		KZL005	Kozlowski Warren Fisher Syndrome	4
282		HYD022	Hydrocephalus Skeletal Anomalies	4
283		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	4
284		MCR343	Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects	4
285		SND004	Sandhaus Ben-Ami Syndrome	4
286		SKL028	Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa	4
287		RRB007	Rare Bone Disease Related to a Common Gene or Pathway Defect	3
288		RRP016	Rare Pediatric Rheumatologic Disease	3
289		PSD120	Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy	3
290		PRL050	Perlecan-Related Bone Disorder	3
291		OST174	Osteochondrosis of Genetic Origin	3
292		GNT079	Genetic Bone Tumor	3
293		SLF019	Sulfation-Related Bone Disorder	3
294		AGG010	Aggrecan-Related Bone Disorder	3
295	c	TYP046	Type 11 Collagen-Related Bone Disorder	3
296		RRS008	Rare Systemic or Rheumatological Disease of Childhood	3
297		BND005	Bone Dysplasia Azouz Type	2
298		BND008	Bone Dysplasia Moore Type	2
299		BND006	Bone Dysplasia Corpus Callosum Agenesis	2
300		GGN003	Gigantism Advanced Bone Age Hoarse Cry	2
301		DWR006	Dwarfism Lethal Type Advanced Bone Age	2
302		BRT025	Brittle Bone Syndrome Lethal Type	2
303		CTR016	Cataract Skeletal Anomalies	2
304		OCL029	Oculo Skeletal Renal Syndrome	2
305		CRP008	Carpo Tarsal Osteolysis Recessive	1
306		DWR010	Dwarfism Thin Bones Multiple Fractures	1
307		CTS007	Cutis Laxa Osteoporosis	1
308	c	FNC027	Fanconi Anemia, Complementation Group a	80
309		PFF001	Pfeiffer Syndrome	78
310		BRT054	Brittle Bone Disorder	73
311	c	GCH015	Gaucher Disease, Type I	70
312		HTC003	Hutchinson-Gilford Progeria Syndrome	69
313	P	CLD001	Cleidocranial Dysplasia	67
314	P	GCH001	Gaucher's Disease	67
315	c	GM1007	Gm1 Gangliosidosis	66
316	c	FNC043	Fanconi Anemia, Complementation Group E	66
317	P	CRN015	Cornelia De Lange Syndrome	65
318	P	CMP005	Campomelic Dysplasia	65
319	P	BTH005	Bethlem Myopathy 1	65
320	P	AMY004	Amyloidosis	64
321	P	PRT008	Proteus Syndrome	64
322		KWS002	Kawasaki Disease	64
323	c	ANM036	Anemia, Sideroblastic, 1	64
324		RHM001	Rheumatic Fever	63
325	P	THN009	Thanatophoric Dysplasia, Type I	63
326	P	OST001	Osteopetrosis	63
327	c	SHR074	Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly	62
328	P	ART023	Arthropathy	62
329	P	SHR072	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly	62
330	c	CRN139	Cornelia De Lange Syndrome 1	62
331	P	STS001	Sotos Syndrome	61
332		SPN027	Spinal Stenosis	60
333	P	PLY006	Polydactyly	59
334	P	STC001	Stickler Syndrome	59
335		SPT004	Septic Arthritis	58
336	c	SHR069	Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	58
337	c	SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	58
338	c	SVR003	Severe Congenital Neutropenia	58
339	c	MYP072	Myopathy, Myofibrillar, 1	58
340	P	MRG008	Meier-Gorlin Syndrome 1	57
341	c	GM2005	Gm2-Gangliosidosis, Ab Variant	57
342	P	RHN004	Rhinitis	57
343	P	FNC044	Fanconi Anemia, Complementation Group C	57
344	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	56
345	c	BRC078	Brachydactyly, Type A1	55
346		FRN039	Frank-Ter Haar Syndrome	55
347	c	MYP078	Myopathy, Myofibrillar, 3	55
348		SRM004	Serum Amyloid a Amyloidosis	55
349	P	SCL018	Scoliosis	54
350		SPN019	Spondylolisthesis	54
351	c	BRC079	Brachydactyly, Type A2	54
352	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	54
353		PST049	Postaxial Acrofacial Dysostosis	54
354	c	CHR048	Chronic Rhinitis	53
355	c	EHL076	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	53
356	P	SPN052	Spondyloarthropathy	53
357		SPN051	Spondylitis	52
358	c	GCH016	Gaucher Disease, Type Ii	52
359		ANK001	Ankylosis	51
360	c	SHR068	Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	51
361	c	OST126	Osteopetrosis, Autosomal Recessive 1	51
362	c	SHR063	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly	51
363		ASP005	Asphyxiating Thoracic Dystrophy	51
364	c	GRN063	Granulomatous Disease, Chronic, Autosomal Recessive, 2	50
365	c	MYP079	Myopathy, Myofibrillar, 5	50
366	P	BRC006	Brachydactyly	50
367	c	GRN062	Granulomatous Disease, Chronic, Autosomal Recessive, 1	49
368	P	BRT028	Brittle Cornea Syndrome 1	49
369	c	BRC109	Brachydactyly, Type E1	49
370	P	MYF003	Myofibrillar Myopathy	49
371	P	CLL015	Collagen Disease	49
372	c	OST129	Osteopetrosis, Autosomal Recessive 2	49
373		DGN001	Degenerative Disc Disease	49
374		CRR002	Currarino Syndrome	48
375	c	JVN061	Juvenile Arthritis	48
376	P	GNG009	Gangliosidosis	48
377	c	CRN134	Cornelia De Lange Syndrome 2	48
378		CLB002	Clubfoot	48
379		EPC002	Epicondylitis	48
380	c	SHR066	Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	48
381	c	OST120	Osteopetrosis, Autosomal Recessive 5	47
382		VXS001	Vexas Syndrome	47
383	c	MYP081	Myopathy, Myofibrillar, 6	47
384	c	CNG185	Congenital Disorder of Glycosylation, Type Iig	47
385	P	KLP003	Klippel-Feil Syndrome	47
386	P	GLP001	Geleophysic Dysplasia	47
387	c	GCH013	Gaucher Disease, Type Iiic	47
388	c	MYP082	Myopathy, Myofibrillar, 2	46
389	c	BRC081	Brachydactyly, Type C	46
390	c	MYP080	Myopathy, Myofibrillar, 4	46
391	c	MRG010	Meier-Gorlin Syndrome 3	46
392	P	SYN060	Syndactyly, Type Iii	45
393		SPN369	Spinal Disease	45
394	c	DSB006	Desbuquois Dysplasia 1	45
395	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	45
396	c	SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	45
397	c	OST134	Osteopetrosis, Autosomal Recessive 6	45
398		ANG062	Angioosteohypertrophic Syndrome	45
399	c	GM2006	Gm2 Gangliosidosis	45
400		SPN253	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures	45
401	P	SPN016	Spondylocostal Dysostosis	45
402		HMR002	Hemarthrosis	45
403	c	SYN061	Syndactyly, Type Iv	45
404	c	GLP003	Geleophysic Dysplasia 1	44
405	c	SHR070	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly	44
406		DFF035	Diffuse Cutaneous Systemic Sclerosis	44
407		CHN011	Chondromalacia	44
408	c	SHR071	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly	44
409	c	ATL011	Atelosteogenesis, Type I	43
410	c	SHR067	Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	43
411	c	ATL015	Atelosteogenesis, Type Ii	43
412		SPN251	Spondyloenchondrodysplasia with Immune Dysregulation	43
413		SYN005	Synostosis	43
414	c	CRN220	Craniodiaphyseal Dysplasia, Autosomal Dominant	42
415	c	HRD039	Hereditary Amyloidosis	42
416	c	GLP004	Geleophysic Dysplasia 2	42
417	c	MYP022	Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2	42
418	c	FNC052	Fanconi Anemia, Complementation Group T	42
419	c	FNC058	Fanconi Anemia, Complementation Group R	42
420	c	SYN059	Syndactyly, Type V	42
421		SPN029	Spondylolysis	41
422		MCP033	Mucopolysaccharidoses	41
423	c	OST137	Osteopetrosis, Autosomal Recessive 4	41
424	c	MRG015	Meier-Gorlin Syndrome 7	41
425	c	OST110	Osteogenesis Imperfecta, Type Xv	41
426	c	CRN209	Cornelia De Lange Syndrome 5	41
427	c	MRG012	Meier-Gorlin Syndrome 5	41
428	c	FNC057	Fanconi Anemia, Complementation Group U	41
429		IDP070	Idiopathic Scoliosis	41
430	c	SPN081	Spondylocostal Dysostosis, Autosomal Recessive	40
431	P	RDL002	Radioulnar Synostosis	40
432	c	BRT029	Brittle Cornea Syndrome 2	40
433	P	SHR085	Short-Rib Thoracic Dysplasia 14 with Polydactyly	39
434		PRS037	Periostitis	39
435		ENP001	Enophthalmos	39
436	P	MTP001	Metaphyseal Dysplasia	38
437		ISL121	Isolated Split Hand-Split Foot Malformation	38
438	c	BRC062	Brachydactyly, Type D	38
439	P	ACR106	Acrocephalopolysyndactyly Type Iii	38
440	c	GLP007	Geleophysic Dysplasia 3	38
441		HYP007	Hypermobility Syndrome	38
442	c	KLP007	Klippel-Feil Syndrome 1, Autosomal Dominant	38
443	c	XLN227	X-Linked Chondrodysplasia Punctata 1	38
444	c	BTH006	Bethlem Myopathy 2	37
445	c	THN010	Thanatophoric Dysplasia, Type Ii	37
446	c	SHR083	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	37
447		VLL003	Villonodular Synovitis	37
448	c	MYP119	Myopathy, Myofibrillar, 7	36
449		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	36
450	P	CXV002	Coxa Vara	36
451	c	BRC075	Brachydactyly, Type A1, C	36
452	c	FNC056	Fanconi Anemia, Complementation Group V	35
453	P	ATL001	Atelosteogenesis	35
454	P	SKL005	Skull Base Meningioma	35
455	c	OST106	Osteopetrosis, Autosomal Recessive 8	35
456	c	BRC060	Brachydactyly, Type E2	35
457		DRG013	Drug-Induced Lupus Erythematosus	35
458	P	DSB002	Desbuquois Dysplasia	35
459	c	MRG009	Meier-Gorlin Syndrome 2	35
460		SYN063	Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction	35
461		TBL006	Tibial Adamantinoma	35
462	c	ATL012	Atelosteogenesis, Type Iii	34
463		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	34
464	c	MYP118	Myopathy, Myofibrillar, 8	34
465	c	ANX008	Anauxetic Dysplasia 2	34
466		SHL001	Shoulder Impingement Syndrome	34
467	c	BRC099	Brachydactyly, Type A4	34
468		PRR001	Periarthritis	34
469		END034	Endocrine Exophthalmos	33
470		CRR017	Curry-Jones Syndrome	33
471		ATN022	Autoinflammation, Antibody Deficiency, and Immune Dysregulation	33
472	c	TRN014	Transient Arthritis	33
473		RFM002	Roifman-Chitayat Syndrome	33
474		JBR008	Juberg-Hayward Syndrome	33
475		ORB008	Orbital Plasma Cell Granuloma	32
476		PLS001	Pulsating Exophthalmos	32
477	c	BRC105	Brachydactyly, Type A1, D	32
478		FMR018	Femoral-Facial Syndrome	32
479		SSC001	Susac Syndrome	32
480	c	STS008	Sotos Syndrome 1	32
481	c	DSB005	Desbuquois Dysplasia 2	32
482		ANG049	Angioedema Induced by Ace Inhibitors	32
483		HYD003	Hydrarthrosis	31
484		IMM237	Immunodeficiency 78 with Autoimmunity and Developmental Delay	31
485		HLS001	Heel Spur	31
486	c	ATS210	Autosomal Recessive Sideroblastic Anemia	31
487		BLP051	Blepharophimosis-Impaired Intellectual Development Syndrome	31
488	c	FNC062	Fanconi Anemia, Complementation Group S	31
489	c	EHL089	Ehlers-Danlos Syndrome, Classic-Like, 2	31
490		LNG113	Liang-Wang Syndrome	31
491	c	SHR104	Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	31
492	P	HRD214	Hereditary Periodic Fever Syndrome	31
493	c	PRT063	Proteus-Like Syndrome	31
494	c	MRG016	Meier-Gorlin Syndrome 8	30
495	c	ANK021	Ankylosing Spondylitis 1	30
496		TTR013	Tetrasomy X	30
497		MSM004	Mesomelia-Synostoses Syndrome	30
498		ISL096	Isolated Klippel-Feil Syndrome	30
499	c	BRC108	Brachydactyly, Type A3	30
500	c	SPL070	Split-Hand/foot Malformation 2	30
501		BRR001	Barre-Lieou Syndrome	29
502		CHR268	Chromosome 8q Duplication	29
503	c	MRG011	Meier-Gorlin Syndrome 4	29
504		CHR588	Chromosome 8q22.1 Duplication Syndrome	29
505		ACR025	Acrocephalopolydactylous Dysplasia	29
506		WLD006	Wild Type Abeta2m Amyloidosis	29
507		TBR007	Tuberculum Sellae Meningioma	29
508		DQR001	De Quervain Disease	28
509		TRG019	Trigonocephaly with Short Stature and Developmental Delay	28
510		MCR237	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive	28
511	P	NNT006	Neonatal Myasthenia Gravis	28
512	c	SHR115	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly	28
513		CTN019	Cutaneous Polyarteritis Nodosa	28
514		THY013	Thyrotoxic Exophthalmos	28
515	P	JVN059	Juvenile Ankylosing Spondylitis	27
516	c	SHR101	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly	27
517	P	CNG539	Congenital Disorder of Glycosylation with Defective Fucosylation 1	27
518		THR032	Thoracolaryngopelvic Dysplasia	27
519		PLC002	Plica Syndrome	27
520	P	ACT077	Acute Orbital Inflammation	27
521	c	MRG014	Meier-Gorlin Syndrome 6	27
522		MTP033	Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria	27
523		OLC001	Olecranon Bursitis	26
524	c	SPL025	Split-Hand/foot Malformation 5	26
525	c	SYN088	Synpolydactyly 2	26
526		SCR025	Scarf Syndrome	26
527		NVR001	Nievergelt Syndrome	26
528	c	RDL040	Radioulnar Synostosis, Nonsyndromic	26
529		ANN010	Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges	26
530	c	FNC061	Fanconi Anemia, Complementation Group W	26
531		PRS016	Periosteal Chondrosarcoma	26
532		NNS133	Non-Syndromic Metopic Craniosynostosis	26
533	c	THR096	Three M Syndrome 3	25
534		FBR010	Fibrogenesis Imperfecta Ossium	25
535		UND007	Undifferentiated Connective Tissue Disease	25
536	c	STS007	Sotos Syndrome 2	25
537		INT182	Intermittent Hydrarthrosis	25
538		EF001	Eaf	25
539	c	CNG541	Congenital Disorder of Glycosylation with Defective Fucosylation 2	25
540		INT033	Intracranial Chondrosarcoma	25
541	c	CNG514	Congenital Radioulnar Synostosis	25
542	c	CNG627	Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant	25
543		MMM002	Mammary-Digital-Nail Syndrome	25
544		DYS213	Dysostosis Multiplex, Ain-Naz Type	25
545		SPS090	Sepsis in Premature Infants	24
546		SYM024	Symphalangism, Distal	24
547	c	CHR093	Chronic Orbital Inflammation	24
548	c	GRN065	Granulomatous Disease, Chronic, Autosomal Recessive, 5	24
549	c	SPN417	Spondylocostal Dysostosis 6, Autosomal Recessive	24
550		GNR023	Generalized Eruptive Histiocytosis	24
551		CHN053	Chondromyxoid Fibroma	24
552		9Q2001	9q22.3 Microdeletion	24
553		EXT003	Extraskeletal Mesenchymal Chondrosarcoma	23
554	c	STS009	Sotos Syndrome 3	23
555		PLV015	Pelvis-Shoulder Dysplasia	23
556		JNT004	Joint Laxity, Short Stature, and Myopia	23
557		CLV002	Clivus Chordoma	23
558	c	MTP014	Metaphyseal Anadysplasia 2	23
559	c	ANK023	Ankylosing Spondylitis 3	23
560	c	MYF011	Myofibrillar Myopathy 10	23
561	c	STC012	Stickler Syndrome, Type Iv	23
562	c	MYF012	Myofibrillar Myopathy 11	23
563		DDF002	Dedifferentiated Chondrosarcoma	22
564		SYS071	Systemic Autoimmune Disease	22
565	c	PLY137	Polydactyly, Preaxial Iii	22
566	c	STC020	Stickler Syndrome, Type Vi	22
567		HMM005	Hemimelia	22
568		INT026	Intermittent Proptosis	21
569	c	ANM034	Anemia, Sideroblastic, 4	21
570		ULN024	Ulnar/fibular Ray Defect and Brachydactyly	21
571	c	TRN062	Transient Neonatal Myasthenia Gravis	21
572		FCC003	Faciocardiomelic Dysplasia, Lethal	21
573	c	BRC080	Brachydactyly, Type A1, B	21
574	c	VTM037	Vitamin D-Dependent Rickets Type 2b	21
575		BNG069	Benign Cephalic Histiocytosis	21
576		AFR001	African Histoplasmosis	21
577		ORB010	Orbital Granuloma	21
578		SPN439	Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	21
579	c	ACR108	Acrocephalopolysyndactyly Type Iv	21
580		DYS134	Dysspondyloenchondromatosis	20
581		INF009	Inflammatory Spondylopathy	20
582	P	HRD209	Hereditary Angioedema with Normal C1inh	20
583		HMR016	Humeroradioulnar Synostosis	20
584	c	STC011	Stickler Syndrome, Type V	20
585		BCP001	Bicipital Tenosynovitis	20
586		MNS012	Monostotic Fibrous Dysplasia	20
587		KMM001	Kummell's Disease	20
588	c	KLP006	Klippel-Feil Syndrome 3, Autosomal Dominant	20
589	c	BRC053	Brachyolmia Type 2	20
590		CMP074	Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye	19
591		SYN106	Syndromic Craniosynostosis	19
592	c	TRC104	Trichorhinophalangeal Syndrome Type 1 and 3	19
593		IGG010	Igg4-Related Aortitis	19
594	P	SPN300	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	19
595		SPN132	Spondyloepimetaphyseal Dysplasia with Hypotrichosis	19
596	c	ANM079	Anemia, Sideroblastic, 5	19
597		SPL056	Split-Foot Deformity with Mandibulofacial Dysostosis	19
598		THR033	Thoracomelic Dysplasia	19
599		SPN243	Spondyloepimetaphyseal Dysplasia, Irapa Type	19
600		CRT088	Car T Cell Therapy-Associated Cytokine Release Syndrome	19
601		CRN192	Craniorhiny	19
602		PLY132	Polysyndactyly, Crossed	19
603		HRD208	Hereditary Angioedema with C1inh Deficiency	18
604		DYS180	Dyschondrosteosis and Nephritis	18
605		DYS049	Dysplastic Cortical Hyperostosis	18
606	c	CLD019	Cleidocranial Dysplasia Spectrum Disorder	18
607		SPN120	Spondylocamptodactyly	18
608		TTR010	Tetramelic Monodactyly	18
609		DYS128	Dysplasia of Head of Femur, Meyer Type	18
610		MLT144	Multiple Epiphyseal Dysplasia with Robin Phenotype	18
611		IDP041	Idiopathic Recurrent Pericarditis	18
612		PRM233	Primary Cutaneous Plasmacytosis	18
613		49X005	49, Xxxyy Syndrome	18
614	c	SX2003	Six2-Related Frontonasal Dysplasia	17
615		RDL031	Radial Aplasia, X-Linked	17
616		BRC114	Brachyolmia Type 1, Hobaek Type	17
617	c	BRC037	Brachydactyly Type A7	17
618		MLT147	Multiple Congenital Anomalies Syndrome with Cloverleaf Skull	17
619	c	KLP012	Klippel-Feil Syndrome 1	17
620		SCR036	Sacrum Chordoma	16
621		SPN414	Spondylometaphyseal Dysplasia, East African Type	16
622	c	JVN036	Juvenile Sialidosis Type 2	16
623	c	CMP100	Campomelic Dysplasia and Related Disorders	16
624		SPN346	Spondyloepiphyseal Dysplasia with Atlantoaxial Instability	16
625		FBR091	Fibroblastic Rheumatism	16
626		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	16
627		ACH028	Acheiria	16
628	c	SPN226	Spondyloarthropathy 2	15
629		EXS015	Exostoses with Anetodermia and Brachydactyly, Type E	15
630		ALC030	Alect2 Amyloidosis	15
631		MLT181	Multisystem Inflammatory Syndrome in Children and Adults	15
632		CRN307	Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	15
633		ISC019	Ischiovertebral Syndrome	15
634	c	ATS448	Autosomal Recessive Brachyolmia	14
635		SPN406	Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies	14
636		TRM018	Traumatic Avascular Necrosis	14
637		HRR003	Herrmann Opitz Craniosynostosis	14
638	c	CLD018	Cleidocranial Dysplasia, Recessive Form	14
639		MYL051	Myalgia-Eosinophilia Syndrome Associated with Tryptophan	14
640		CRN087	Craniomicromelic Syndrome	14
641		FBR007	Fibroosseous Pseudotumor of Digits	14
642	c	JVN047	Juvenile Spondyloarthropathy	14
643		SPN150	Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism	13
644		KLL015	Kallmann Syndrome with Spastic Paraplegia	13
645		DPH002	Diaphragma Sellae Meningioma	13
646	c	SYN050	Syndactyly Type 6	13
647		SPN412	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	13
648	c	ZYG006	Zygodactyly Type 2	13
649		HYP879	Hypoplastic Femurs and Pelvis	13
650		MLH001	Melhem Fahl Syndrome	12
651		PTT005	Pituitary Stalk Meningioma	12
652		HYP010	Hypermobility of Coccyx	12
653	c	SCN055	Secondary Polyarteritis Nodosa	12
654		HMN007	Hemangioma of Orbit	12
655		MDF001	Midface Dysplasia	12
656		AML036	Amelia of Lower Limb	12
657		CNG279	Congenital Pseudoarthrosis of the Ulna	12
658	c	MLT172	Multiple Metaphyseal Dysplasia	12
659	c	INF052	Infantile Scoliosis	12
660		CNG277	Congenital Pseudoarthrosis of the Fibula	11
661		ACR121	Acromelic Dysplasia	11
662		CNG278	Congenital Pseudoarthrosis of the Radius	11
663	c	SPN256	Spondyloarthropathy 3	11
664		NNT045	Neonatal Autoimmune Hemolytic Anemia	11
665	c	ANK022	Ankylosing Spondylitis 2	11
666		ORB005	Orbital Periostitis	10
667		TRG018	Trigonocephaly-Broad Thumbs Syndrome	10
668	c	BRC035	Brachydactyly Type A5	10
669		SPN390	Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy	10
670		MLT171	Multiple Epiphyseal Dysplasia and Pseudoachondroplasia	10
671		NNR005	Non-Rhizomelic Chondrodysplasia Punctata	9
672	c	JVN030	Juvenile Overlap Myositis	9
673		OTM002	Otomandibular Dysplasia	9
674		XLN252	X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection	9
675		MRF023	Marfan Syndrome and Marfan-Related Disorders	9
676		NNS146	Non-Syndromic Unicoronal Craniosynostosis	9
677		CNG287	Congenital Absence of Both Forearm and Hand	9
678	c	PSD023	Pseudo-Gaucher Disease	9
679		INF120	Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis	9
680		BNL004	Benallegue Lacete Syndrome	9
681		JNT005	Joint Formation Defects	9
682		OVR125	Overlapping Connective Tissue Disease	9
683		CNG290	Congenital Absence of Both Lower Leg and Foot	8
684	c	TRN008	Transient Arthropathy	8
685	c	PRM325	Primary Avascular Necrosis	8
686		DYS208	Dysostosis with Brachydactyly	7
687		CNG286	Congenital Absence of Thigh and Lower Leg with Foot Present	7
688	c	MLT004	Multiple Skull Base Meningioma	7
689		LNG112	Longitudinal Limb Defect	7
690		BHC001	Behcet's Syndrome Arthropathy	7
691		CHL166	Childhood Mesenchymal Chondrosarcoma	6
692		SPN437	Spondylodysplastic Dysplasia	6
693		INT355	Intercalary Limb Defects	6
694	c	PRX100	Proximal Symphalangism 2	6
695		SYN118	Syndrome with Limb Reduction Defects	6
696		ACR100	Acrofacial Dysostosis, Patagonia Type	6
697		RDL020	Radio-Ulnar Synostosis, Bilateral	5
698		SPN268	Spondyloepimetaphyseal Dysplasia, Isidor Type	5
699	c	ADL046	Adult Myxoid Chondrosarcoma	5
700		GNC002	Gonococcal Bursitis	5
701		UNX003	Unexplained Long-Lasting Fever/inflammatory Syndrome	5
702	c	ATS407	Autosomal Dominant Sideroblastic Anemia 4	5
703	c	CXV001	Coxa Vara, Congenital	5
704		NNS143	Non-Syndromic Non-Specific Multisutural Craniosynostosis	5
705		NNS142	Non-Syndromic Multisutural Craniosynostosis	5
706		HMR037	Humero-Ulnar Synostosis, Bilateral	5
707		NNS139	Non-Syndromic Bicoronal and Metopic Craniosynostosis	5
708		NNS137	Non-Syndromic Pansynostosis	5
709		NNS138	Non-Syndromic Metopic and Sagittal Craniosynostosis	5
710		NNS145	Non-Syndromic Unisquamosal Craniosynostosis	5
711		SPC002	Specific Bursitis Often of Occupational Origin	4
712		GNC006	Gonococcal Spondylitis	4
713		CNS003	Constant Exophthalmos	4
714		DYS210	Dysostosis with Predominant Craniofacial Involvement	4
715		PYG009	Pyogenic Autoinflammatory Syndrome	4
716		DYS207	Dysostosis with Brachydactyly Without Extraskeletal Manifestations	3
717		SYN142	Syndrome with Synostosis or Other Joint Formation Defect	3
718		DYS203	Dysostosis with Combined Reduction Defects of Upper and Lower Limbs	3
719		MSM021	Mesomelic and Rhizo-Mesomelic Dysplasia	3
720		CMP099	Complete Hemimelia	3
721		DYS201	Dysostosis with Limb and Face Anomalies As a Major Feature	3
722		OST141	Osteoclastic Giant Cell Tumor of Pancreas	20
723		LRY012	Laryngeal Cartilage Cancer	8
724	c	NPH056	Nephrolithiasis/osteoporosis, Hypophosphatemic, 1	42
725	c	NPH042	Nephrolithiasis/osteoporosis, Hypophosphatemic, 2	25
726		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	26
727	P	DNT011	Dentinogenesis Imperfecta	55
728		RNL011	Renal Osteodystrophy	50
729	c	RRD009	Rare Disease with Dentinogenesis Imperfecta	5
730		BNG005	Bone Giant Cell Sarcoma	24
731		ALK013	Alkaptonuria	61
732	c	DNT025	Dentinogenesis Imperfecta 1	43
733		RHM036	Rheumatoid Arthritis Interstitial Lung Disease	30
734	P	HYP868	Hypophosphatemic Nephrolithiasis/osteoporosis	25
735		HYP499	Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome	13
736	c	NRP041	Neuropathy, Hereditary Sensory, Type Ie	55
737	P	HRD021	Hereditary Sensory Neuropathy	53
738	P	PLM175	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2	49
739	c	AVS006	Avascular Necrosis of Femoral Head, Primary, 1	45
740		ARM001	Aromatase Deficiency	44
741	c	NRP029	Neuropathy, Hereditary Sensory, Type Iic	43
742	c	NRP039	Neuropathy, Hereditary Sensory, Type Id	42
743	c	PLM139	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1	33
744	c	NRP036	Neuropathy, Hereditary Sensory, Type if	30
745	P	INH011	Inherited Bone Marrow Failure Syndromes	28
746		SKL002	Skeletal Muscle Neoplasm	28
747	c	AVS005	Avascular Necrosis of Femoral Head, Primary, 2	19
748	c	SPT021	Sptlc1-Related Hereditary Sensory Neuropathy	15
749		SKL034	Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus	14
750		CSF006	Csf1r-Related Brain Malformation and Osteopetrosis	10
751	c	RRB006	Rare Bone Development Disorder	8
752		RRG037	Rare Genetic Bone Development Disorder	7
753		OST010	Osteoclast-Like Giant Cell Neoplasm of the Pancreas	5
754	P	APL006	Aplasia Cutis Congenita	49
755	c	APL023	Aplasia Cutis Congenita, Nonsyndromic	37
756		PRM288	Permanent Molars, Secondary Retention of	27
757		CYP001	Cyprus Facial Neuromusculoskeletal Syndrome	14
758	c	MSC165	Muscular Dystrophy, Congenital, Lmna-Related	66
759	P	MSC005	Muscular Dystrophy	65
760	P	THR014	Thrombocytopenia	63
761	P	WHM002	Whim Syndrome 1	60
762	c	HYP847	Hyper Ige Recurrent Infection Syndrome 1	55
763	c	FNC024	Fanconi Anemia, Complementation Group D1	55
764	c	HYP828	Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	53
765	c	THR071	Thrombocytopenia 1	53
766	P	PLG001	Pelger-Huet Anomaly	52
767		ISL003	Isolated Growth Hormone Deficiency	50
768	c	ACQ005	Acquired Thrombocytopenia	42
769	c	PRM225	Primary Thrombocytopenia	40
770	c	THR037	Thrombocytopenia 2	38
771	c	MSC050	Muscular Dystrophy, Congenital, 1b	38
772	c	MYF007	Myofibromatosis, Infantile, 1	36
773	P	ACR110	Acrodysostosis 1 with or Without Hormone Resistance	33
774	c	THR102	Thrombocytopenia 5	31
775	c	THR048	Thrombocytopenia 4	30
776	c	THR111	Thrombocytopenia 3	30
777	c	BFD005	Bifid Nose, Autosomal Recessive	29
778	c	THR110	Thrombocytopenia 6	28
779	c	THR125	Thrombocytopenia 7	27
780	c	HYP884	Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive	26
781	c	HYP833	Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	26
782		NRD072	Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities	25
783		CRD256	Cardiac Arrhythmia Syndrome, with or Without Skeletal Muscle Weakness	24
784	c	HYP871	Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	23
785	P	HYP885	Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant	23
786	c	PRG106	Progressive Muscular Dystrophy	22
787	c	BNM034	Bone Marrow Failure Syndrome 6	21
788		HDZ001	Hadziselimovic Syndrome	20
789	c	ANK019	Ankrd26-Related Thrombocytopenia	20
790		OST181	Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay	19
791		BNM035	Bone Marrow Failure and Diabetes Mellitus Syndrome	18
792	c	HYP863	Hyper Ige Recurrent Infection Syndrome 4	17
793	P	SCK020	Sickle Cell - Hemoglobin D Disease	17
794		PRN061	Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures	16
795		NRD173	Neurodevelopmental Disorder with Dysmorphic Facies and Skeletal and Brain Abnormalities	13
796	c	SCK051	Sickle Cell-Hemoglobin E Disease Syndrome	12
797		ISL032	Isolated Bone Marrow Mastocytosis	12
798	c	PSD024	Pseudo Pelger-Huet Anomaly	11
799	P	BFD004	Bifid Nose, Autosomal Dominant	11
800		RZC001	Ruzicka Goerz Anton Syndrome	7
801	c	HYP861	Hyper Ige Recurrent Infection Syndrome 2	6
802	c	HYP862	Hyper Ige Recurrent Infection Syndrome 3	6
803		ACT273	Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or	6
804	P	DMN001	Diamond-Blackfan Anemia	75
805	c	DMN023	Diamond-Blackfan Anemia 1	66
806		NNK001	Nonaka Myopathy	60
807	c	CRB101	Cerebrooculofacioskeletal Syndrome 1	57
808	c	ANM043	Anemia, Congenital Dyserythropoietic, Type Ia	56
809		SRC014	Sarcoma	56
810	P	MRN003	Marinesco-Sjogren Syndrome	53
811	P	MSC003	Muscular Atrophy	53
812		TRC097	Tracheomalacia	53
813		MYP100	Myopathy, X-Linked, with Excessive Autophagy	51
814		3MC001	3mc Syndrome 2	51
815	P	RPP006	Rippling Muscle Disease 2	49
816		MYT030	Myotonia, Potassium-Aggravated	47
817	c	MYT029	Myotonia Congenita, Autosomal Recessive	47
818	c	DMN021	Diamond-Blackfan Anemia 6	46
819	c	DMN029	Diamond-Blackfan Anemia 11	46
820	c	PRG001	Progressive Muscular Atrophy	46
821		SPR126	Superior Semicircular Canal Dehiscence	45
822	c	HYP829	Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	45
823		PGM007	Pigmented Paravenous Chorioretinal Atrophy	45
824		CNT060	Central Serous Chorioretinopathy	44
825		DCK002	Dock8 Immunodeficiency Syndrome	43
826		MRS009	Marsili Syndrome	42
827	P	CRB050	Cerebrooculofacioskeletal Syndrome	41
828	c	DMN017	Diamond-Blackfan Anemia 10	41
829	c	CHN022	Chondrocalcinosis 2	40
830	c	DMN020	Diamond-Blackfan Anemia 8	38
831	c	DMN024	Diamond-Blackfan Anemia 7	38
832		DCH002	Duchenne and Becker Muscular Dystrophy	37
833		RHM008	Rheumatic Myocarditis	35
834	c	DMN018	Diamond-Blackfan Anemia 5	34
835	c	DMN049	Diamond-Blackfan Anemia 20	32
836		ACT176	Acute Panmyelosis with Myelofibrosis	31
837	c	DMN022	Diamond-Blackfan Anemia 9	29
838		IMM263	Immunodeficiency 98 with Autoinflammation, X-Linked	29
839	c	DMN019	Diamond-Blackfan Anemia 4	28
840		FXL001	Foix-Alajouanine Syndrome	27
841	c	DMN045	Diamond-Blackfan Anemia-Like	25
842		HYD052	Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia	24
843	c	DMN028	Diamond-Blackfan Anemia 12	24
844	c	MYF010	Myofibromatosis, Infantile, 2	23
845	c	DMN030	Diamond-Blackfan Anemia 13	23
846		DRM042	Dermatoosteolysis, Kirghizian Type	22
847	c	DMN040	Diamond-Blackfan Anemia 16	21
848	c	DMN039	Diamond-Blackfan Anemia 17	20
849	c	DMN047	Diamond-Blackfan Anemia 18	20
850		CRT006	Cartilage Cancer	20
851	c	RPP007	Rippling Muscle Disease 1	19
852	c	DMN048	Diamond-Blackfan Anemia 19	19
853	c	DMN050	Diamond-Blackfan Anemia 21	16
854	c	CHN023	Chondrocalcinosis Due to Apatite Crystal Deposition	16
855		BNM005	Bone Marrow Necrosis	15
856		MCR036	Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance	14
857		PRM291	Premature Aging Syndrome, Okamoto Type	13
858		OSS016	Ossified Ear Cartilages	10
859		OST157	Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension	10
860		OST161	Osteoma of Middle Ear	8
861		CTK001	Cote Katsantoni Syndrome	7
862	c	ACQ057	Acquired Skeletal Muscle Disease	7
863	c	MRN006	Marinesco-Sjogren-Like Syndrome	6
864		OST166	Osteoma of Cranial Vault, Familial	5
865		ALS004	Alsing Syndrome	4
866		CNT014	Central Nervous System Osteosarcoma	4
867		FCS007	Facio Skeletal Genital Syndrome Rippberger Type	4
868		DSR016	Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement	4
869	c	SYS001	Systemic Lupus Erythematosus	86
870	P	MRF001	Marfan Syndrome	77
871	P	NNN008	Noonan Syndrome 1	77
872		OST012	Osteoarthritis	76
873		MCC012	Mccune-Albright Syndrome	71
874	P	DYS007	Dyskeratosis Congenita	69
875	P	SHW006	Shwachman-Diamond Syndrome 1	68
876	P	ART022	Arthritis	68
877		HST017	Histiocytosis-Lymphadenopathy Plus Syndrome	68
878	P	CHR012	Chronic Granulomatous Disease	67
879	c	HRD002	Hereditary Angioedema	66
880		CRZ001	Crouzon Syndrome	66
881	c	MCP049	Mucopolysaccharidosis, Type Vii	66
882	c	ORF037	Orofaciodigital Syndrome I	65
883	P	ZLL001	Zellweger Syndrome	64
884		HJD001	Hajdu-Cheney Syndrome	64
885	P	SJG008	Sjogren Syndrome	64
886	P	TMR018	Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	64
887	P	OST135	Osteogenesis Imperfecta, Type I	64
888		GT001	Gout	63
889		CHR619	Chromosome 2q35 Duplication Syndrome	63
890		END081	Endosteal Hyperostosis, Autosomal Dominant	63
891	c	VTM027	Vitamin D-Dependent Rickets, Type 2a	63
892	c	CRB172	Cerebral Amyloid Angiopathy, Cst3-Related	62
893	c	PSR021	Psoriasis 14, Pustular	62
894		ANT009	Antithrombin Iii Deficiency	62
895		HYP042	Hypochondroplasia	61
896		OST009	Osteochondritis Dissecans	60
897	P	CRN323	Cranioectodermal Dysplasia	60
898	P	46X052	46,xx Sex Reversal 1	60
899		INT146	Intervertebral Disc Disease	60
900		CRT002	Cartilage-Hair Hypoplasia	59
901	P	LPS004	Lupus Erythematosus	58
902	c	FNC042	Fanconi Anemia, Complementation Group D2	58
903	c	GCH017	Gaucher Disease, Type Iii	58
904	P	ACT092	Acth-Independent Macronodular Adrenal Hyperplasia	58
905		RDC002	Radiculopathy	57
906	P	BND020	Bone Disease	57
907	c	OST163	Osteopetrosis, Autosomal Recessive 3	57
908		PYC001	Pycnodysostosis	56
909		PLS030	Plasminogen Deficiency, Type I	56
910	P	MLT007	Multiple Epiphyseal Dysplasia	56
911	P	ANT006	Antiphospholipid Syndrome	55
912		ACR058	Acrofacial Dysostosis 1, Nager Type	55
913		SYS034	Systemic Onset Juvenile Idiopathic Arthritis	55
914	P	PRG040	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4	55
915	P	CRB154	Cerebrocostomandibular Syndrome	54
916		TNS001	Tenosynovial Giant Cell Tumor	54
917	c	OST132	Osteogenesis Imperfecta, Type Vi	54
918	c	ACR128	Acromesomelic Dysplasia 1	54
919	P	ANG015	Angioedema	54
920		MLT135	Multiple Sulfatase Deficiency	54
921	c	FNC029	Fanconi Anemia, Complementation Group I	54
922	c	FNC045	Fanconi Anemia, Complementation Group F	54
923	c	FNC025	Fanconi Anemia, Complementation Group J	53
924		ACR013	Acrodysostosis	53
925		MND020	Mandibulofacial Dysostosis, Guion-Almeida Type	53
926	c	ACH042	Achondrogenesis, Type Ib	53
927		VSC003	Visceral Leishmaniasis	53
928	P	CHN059	Chondrocalcinosis	53
929	c	SCL045	Sclerosteosis 1	53
930	c	BRC051	Brachydactyly, Type B1	53
931	c	NNN010	Noonan Syndrome 3	52
932		VTM033	Vitamin K Deficiency Bleeding	52
933		PRX005	Peroxisomal Biogenesis Disorder	52
934	P	CRY007	Cryoglobulinemia, Familial Mixed	52
935		MLT134	Multiple Pterygium Syndrome, Lethal Type	52
936		OHD005	Ohdo Syndrome, Sbbys Variant	51
937		MLT145	Multiple Enchondromatosis, Maffucci Type	51
938	P	FNC026	Fanconi Renotubular Syndrome 1	51
939	c	46X082	46,xy Sex Reversal	51
940	P	MST002	Mast-Cell Leukemia	51
941	c	FNC032	Fanconi Anemia, Complementation Group B	51
942		BRS064	Bursitis	51
943		ACR043	Acromicric Dysplasia	50
944		EXS001	Exostosis	50
945		CLC001	Calciphylaxis	50
946	c	PRG131	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1	50
947	c	CRN108	Cranioectodermal Dysplasia 1	50
948	P	FBR025	Fibrochondrogenesis	50
949	c	46X049	46,xy Sex Reversal 2	50
950	c	FNC028	Fanconi Anemia, Complementation Group L	50
951	c	FNC048	Fanconi Anemia, Complementation Group O	49
952		SPN020	Spondylosis	49
953	c	PRG130	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1	49
954		BNN003	Bone Inflammation Disease	49
955	c	OST119	Osteogenesis Imperfecta, Type Vii	49
956		ORB013	Orbital Disease	49
957	c	DYS152	Dyskeratosis Congenita, Autosomal Recessive 5	49
958		ENT004	Enthesopathy	49
959	P	ACT010	Acth-Secreting Pituitary Adenoma	48
960		CHN054	Chondrodysplasia, Blomstrand Type	48
961		PRG071	Progressive Pseudorheumatoid Dysplasia	48
962		SCH030	Schneckenbecken Dysplasia	48
963		FBR009	Fibrous Dysplasia	48
964		RTR011	Retroperitoneal Fibrosis	48
965	c	PRG039	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3	48
966	c	FNC023	Fanconi Anemia, Complementation Group N	48
967	c	DYS143	Dyskeratosis Congenita, Autosomal Dominant 2	47
968	c	ZLL011	Zellweger Spectrum Disorder	47
969	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	47
970	c	FNC030	Fanconi Anemia, Complementation Group G	47
971	c	GRN061	Granulomatous Disease, Chronic, Autosomal Recessive, 4	47
972	c	FBR029	Fibrochondrogenesis 1	47
973		HYP068	Hyperostosis	46
974	c	PRG038	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2	46
975	P	MSN005	Mesenchymal Chondrosarcoma	46
976	c	DYS141	Dyskeratosis Congenita, Autosomal Dominant 1	46
977	c	OST133	Osteogenesis Imperfecta, Type Xi	46
978		BNR002	Bone Resorption Disease	46
979		SHR044	Short Rib-Polydactyly Syndrome	46
980	c	SCL042	Sclerosteosis 2	46
981	c	CRN111	Cranioectodermal Dysplasia 4	46
982	c	PTT057	Pituitary Adenoma 4, Acth-Secreting	46
983	c	46X051	46,xy Sex Reversal 1	45
984		SLW006	Saul-Wilson Syndrome	45
985	c	OST118	Osteogenesis Imperfecta, Type Viii	45
986	c	46X030	46,xy Sex Reversal 9	45
987	c	FNC047	Fanconi Anemia, Complementation Group Q	45
988	c	SVR107	Severe Congenital Neutropenia 3	44
989	P	PST059	Pustular Psoriasis	44
990	c	DYS147	Dyskeratosis Congenita, Autosomal Dominant 3	44
991	c	NNN009	Noonan Syndrome 2	44
992	c	BRC052	Brachydactyly, Type B2	44
993		EKN001	Eiken Syndrome	44
994	P	BRC015	Bruck Syndrome	44
995		CHN056	Chondrosarcoma, Extraskeletal Myxoid	44
996		MYH012	Myhre Syndrome	43
997		IMM082	Immunodeficiency 18	43
998		GLC086	Glucocorticoid-Induced Osteoporosis	43
999		MSN004	Mesenchymal Cell Neoplasm	43
1000		DYS018	Dysostosis	43
1001		CRN325	Craniotubular Dysplasia, Ikegawa Type	43
1002		OLG020	Oligoarticular Juvenile Idiopathic Arthritis	43
1003	c	NNN012	Noonan Syndrome 5	43
1004	c	ATS082	Autosomal Dominant Robinow Syndrome	43
1005	c	DYS149	Dyskeratosis Congenita, Autosomal Recessive 1	43
1006		ORB006	Orbital Cellulitis	42
1007	c	46X079	46,xy Sex Reversal 11	42
1008	P	MLT072	Multiple Synostoses Syndrome	42
1009	c	EPP012	Epiphyseal Dysplasia, Multiple, 2	42
1010		NRG003	Neurogenic Arthropathy	41
1011	P	VTM036	Vitamin D-Dependent Rickets	41
1012	c	NNN021	Noonan Syndrome 8	41
1013	c	ACT202	Acth-Independent Macronodular Adrenal Hyperplasia 2	41
1014	P	BNG095	Benign Giant Cell Tumor	41
1015	c	NNN011	Noonan Syndrome 4	41
1016	c	SPL034	Split-Hand/foot Malformation 4	40
1017	c	46X055	46,xy Sex Reversal 3	40
1018	c	OST130	Osteogenesis Imperfecta, Type Ix	40
1019	P	LTH003	Lethal Congenital Contracture Syndrome	40
1020	c	FBR030	Fibrochondrogenesis 2	40
1021		SYN086	Synostoses, Tarsal, Carpal, and Digital	40
1022	c	SYS043	Systemic Lupus Erythematosus 1	40
1023	c	DYS174	Dyskeratosis Congenita, Autosomal Dominant 6	40
1024		ERY017	Erythema Elevatum Diutinum	40
1025		SPL068	Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive	40
1026	P	RHM037	Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	40
1027	c	NNN020	Noonan Syndrome 7	39
1028	c	SYS061	Systemic Lupus Erythematosus 16	39
1029		NNL001	Non-Langerhans-Cell Histiocytosis	39
1030	c	46X017	46,xy Sex Reversal 6	39
1031		FCL047	Facial Clefting, Oblique, 1	39
1032	P	OMD003	Omodysplasia	39
1033	c	CRN109	Cranioectodermal Dysplasia 2	39
1034		OST004	Osteitis Fibrosa	39
1035	P	ACR016	Acromesomelic Dysplasia	39
1036		OCH001	Ochronosis	39
1037	P	DVL012	Developmental Dysplasia of the Hip 1	39
1038		MST019	Mastoiditis	38
1039	P	SYN012	Synpolydactyly	38
1040	c	OST128	Osteogenesis Imperfecta, Type Xii	38
1041	c	OST178	Osteogenesis Imperfecta, Type Xxi	38
1042		SHR109	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities	38
1043	c	SPN215	Spondylocostal Dysostosis 4, Autosomal Recessive	38
1044	c	EPP009	Epiphyseal Dysplasia, Multiple, 6	38
1045	c	OST109	Osteogenesis Imperfecta, Type Xiv	38
1046	P	SPL061	Split Hand-Foot Malformation	38
1047	c	SPL033	Split-Hand/foot Malformation 6	38
1048		MRF021	Marfanoid-Progeroid-Lipodystrophy Syndrome	38
1049	P	AVS003	Avascular Necrosis	38
1050	P	HRT030	Hartsfield Syndrome	37
1051	c	PRT059	Parietal Foramina 1	37
1052		BRC004	Brachydactyly-Syndactyly Syndrome	37
1053	c	NNN025	Noonan Syndrome 10	37
1054	c	NNN013	Noonan Syndrome 6	37
1055	c	DYS150	Dyskeratosis Congenita, Autosomal Recessive 3	37
1056	c	FML270	Familial Cold Autoinflammatory Syndrome 4	37
1057	c	OST170	Osteogenesis Imperfecta, Type Xix	37
1058	c	MLT138	Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	37
1059		PDT035	Pediatric Systemic Lupus Erythematosus	36
1060	c	OST127	Osteogenesis Imperfecta, Type X	36
1061		ANT042	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	36
1062		MTP028	Metaphyseal Dysplasia, Spahr Type	36
1063		OST062	Osteoarthritis with Mild Chondrodysplasia	36
1064	c	46X081	46,xx Sex Reversal	36
1065	P	FML333	Familial Behcet-Like Autoinflammatory Syndrome	36
1066	P	OSS001	Ossifying Fibroma	36
1067	c	FNC034	Fanconi Renotubular Syndrome 2	36
1068		CNS013	Constricting Bands, Congenital	36
1069		STL007	Steel Syndrome	36
1070	c	46X057	46,xy Sex Reversal 8	36
1071		SPN250	Spondyloepimetaphyseal Dysplasia	35
1072	c	SYN084	Synpolydactyly 1	35
1073		PTL002	Patellofemoral Pain Syndrome	35
1074		ODN025	Odontochondrodysplasia 1	35
1075		MYL002	Myelophthisic Anemia	35
1076	c	OST123	Osteogenesis Imperfecta, Type Xiii	35
1077	c	PRG103	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6	35
1078		SPN331	Spondyloocular Syndrome	35
1079	c	MLT059	Multiple Synostoses Syndrome 1	34
1080		LSC003	Luscan-Lumish Syndrome	34
1081	P	MYX008	Myxoid Chondrosarcoma	34
1082	c	EPP015	Epiphyseal Dysplasia, Multiple, 3	34
1083	c	NNN024	Noonan Syndrome 9	34
1084		CTR140	Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia	34
1085	c	BRC045	Brachyolmia Type 3	34
1086	c	NNN034	Noonan Syndrome 12	34
1087	P	BRC003	Brachyolmia	34
1088	P	OVR096	Overlap Myositis	33
1089	c	OST169	Osteogenesis Imperfecta, Type Xviii	33
1090		ORB011	Orbit Rhabdomyosarcoma	33
1091		PLN005	Palindromic Rheumatism	33
1092		GRC002	Gracile Bone Dysplasia	33
1093	c	46X047	46,xy Sex Reversal 7	33
1094	c	OST176	Osteogenesis Imperfecta, Type Xx	33
1095	c	ACR129	Acromesomelic Dysplasia 3	33
1096	c	THR069	Three M Syndrome 2	33
1097	c	ATN028	Autoinflammatory Syndrome, Familial, Behcet-Like 1	33
1098	c	PRT060	Parietal Foramina 2	33
1099	P	BND014	Bone Development Disease	32
1100	c	NNN036	Noonan Syndrome 13	32
1101	c	PRG102	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2	32
1102	P	KNN002	Kenny-Caffey Syndrome	32
1103	P	ART169	Arthrogryposis Multiplex Congenita 6	32
1104	c	DYS040	Dyskeratosis Congenita Autosomal Recessive	31
1105		SKL001	Skeletal Tuberculosis	31
1106	c	SHR100	Short-Rib Thoracic Dysplasia 15 with Polydactyly	31
1107		BJL001	Bejel	31
1108		DGT002	Digital Clubbing, Isolated Congenital	31
1109	c	NNN029	Noonan Syndrome 11	30
1110		ORB002	Orbit Embryonal Rhabdomyosarcoma	30
1111	c	OST139	Osteogenesis Imperfecta, Type Xvi	30
1112	c	OST138	Osteogenesis Imperfecta, Type Xvii	30
1113		SHS001	Shashi-Pena Syndrome	30
1114		TTH001	Tooth Ankylosis	30
1115	c	KLP008	Klippel-Feil Syndrome 2, Autosomal Recessive	30
1116		EPP010	Epiphysiolysis of the Hip	30
1117	c	SPN307	Spondylocostal Dysostosis 2, Autosomal Recessive	30
1118	c	ACR119	Acrodysostosis 2 with or Without Hormone Resistance	30
1119		FRN022	Frontofacionasal Dysplasia	30
1120	c	PRG128	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4	30
1121		PTR002	Petroclival Meningioma	29
1122	c	FNC066	Fanconi Renotubular Syndrome 5	29
1123		SPN136	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	29
1124		BRN142	Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis	29
1125	P	EXT030	Extraosseous Chondrosarcoma	29
1126	c	MLT060	Multiple Synostoses Syndrome 2	29
1127		FBL014	Fibular Hemimelia	29
1128	P	ATM094	Autoimmune Disease, Multisystem, Infantile-Onset, 1	29
1129	c	SHW007	Shwachman-Diamond Syndrome 2	29
1130		OST168	Osteosclerotic Metaphyseal Dysplasia	28
1131		DYS048	Dysplasia Epiphysealis Hemimelica	28
1132		AML051	Aml with Myelodysplasia-Related Features	28
1133		OCL073	Oculoskeletodental Syndrome	28
1134		BNR001	Bone Remodeling Disease	28
1135	c	VTM035	Vitamin D-Dependent Rickets, Type 3	28
1136		SPN228	Spondyloepiphyseal Dysplasia, Nishimura Type	28
1137	c	CRN110	Cranioectodermal Dysplasia 3	28
1138	c	TMR020	Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	28
1139	c	MLT078	Multiple Synostoses Syndrome 3	28
1140		ISC005	Ischemic Bone Disease	28
1141	c	ART167	Arthrogryposis Multiplex Congenita 5	28
1142	c	46X048	46,xx Sex Reversal 2	28
1143		RDL022	Radial Hemimelia	28
1144		SDM007	Sodium-Dependent Multivitamin Transporter Deficiency	28
1145		FTL029	Fetal Thalidomide Syndrome	28
1146	P	HRD084	Hereditary Cerebral Amyloid Angiopathy	27
1147	c	MLG067	Malignant Giant Cell Tumor	27
1148		FBL010	Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome	27
1149	c	RBN023	Robinow Syndrome, Autosomal Recessive 2	27
1150	c	MTC138	Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive	27
1151		GNT043	Genitopalatocardiac Syndrome	27
1152	c	MCP055	Mucopolysaccharidosis, Type X	27
1153		TCL012	T-Cell/histiocyte Rich Large B Cell Lymphoma	27
1154		IGG009	Igg4-Related Ophthalmic Disease	27
1155		ACR107	Acrofacial Dysostosis, Palagonia Type	27
1156	c	PRG041	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5	27
1157	c	TMR019	Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	27
1158		ULN023	Ulnar Hypoplasia	26
1159		VSS003	Vissers-Bodmer Syndrome	26
1160	c	JVN019	Juvenile Temporal Arteritis	26
1161		OCL030	Oculoauriculofrontonasal Syndrome	26
1162		HGH023	High Bone Mass Osteogenesis Imperfecta	26
1163	c	46X046	46,xy Sex Reversal 4	26
1164		NNS134	Non-Syndromic Bicoronal Craniosynostosis	26
1165	c	SHR116	Short-Rib Thoracic Dysplasia 20 with Polydactyly	26
1166		MZB001	Mazabraud Syndrome	26
1167	c	SPN401	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	26
1168		SPN141	Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech	26
1169	c	RDL034	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1	26
1170		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	26
1171	P	FRM004	Foramen Magnum Meningioma	25
1172		INT189	Interstitial Granulomatous Dermatitis with Arthritis	25
1173	c	SHR113	Short-Rib Thoracic Dysplasia 18 with Polydactyly	25
1174		HGH021	Hughes-Stovin Syndrome	25
1175		SPN036	Spinal Chordoma	25
1176	c	NNN038	Noonan Syndrome 14	25
1177		PTL010	Patella Aplasia-Hypoplasia	25
1178		ZNC006	Zinc, Elevated Plasma	24
1179		SPN425	Spondyloepimetaphyseal Dysplasia, Krakow Type	24
1180	c	SYS081	Systemic Lupus Erythematosus 17	24
1181		LPS001	Liposarcoma of Bone	24
1182		BND004	Bone Deterioration Disease	24
1183	c	46X059	46,xx Sex Reversal 4	24
1184	c	46X058	46,xy Sex Reversal 10	24
1185		ACH002	Achilles Bursitis	24
1186	c	PRG134	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5	24
1187		ALR004	Alar Cleft, Isolated	24
1188		IGG008	Igg4-Related Mesenteritis	24
1189		INT363	Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies	24
1190		BNS002	Bone Structure Disease	24
1191		INF118	Inflammatory Myopathy with Abundant Macrophages	24
1192		ORB007	Orbital Cyst	24
1193	c	ACR130	Acromesomelic Dysplasia 4	24
1194	P	RDL033	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2	24
1195	c	EPP026	Epiphyseal Dysplasia, Multiple, 7	24
1196		TBL030	Tibial Aplasia-Ectrodactyly Syndrome	24
1197		WHT021	White-Kernohan Syndrome	23
1198		CHN009	Chondroid Chordoma	23
1199		CLV001	Clivus Chondroid Chordoma	23
1200	c	FNC049	Fanconi Renotubular Syndrome 3	23
1201		MTP011	Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth	23
1202		BST002	Baastrup's Syndrome	23
1203		BRC020	Brachydactylous Dwarfism Mseleni Type	23
1204	c	46X056	46,xy Sex Reversal 5	23
1205		AML065	Amelia	23
1206	c	ANG072	Angioedema, Hereditary, 4	23
1207		SHR130	Short Stature, Dauber-Argente Type	23
1208	c	PRG129	Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3	23
1209		INT058	Intraorbital Meningioma	23
1210		VSC014	Vascular Hyalinosis	23
1211	c	SYS040	Systemic Lupus Erythematosus 10	23
1212		ULN014	Ulnar Hemimelia	22
1213	c	46X080	46,xx Sex Reversal 5	22
1214		MSM019	Mesomelic Dysplasia, Savarirayan Type	22
1215		PLY135	Polydactyly, Postaxial, with Progressive Myopia	22
1216	c	RHM033	Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	22
1217	c	SYS038	Systemic Lupus Erythematosus 2	22
1218	c	SYS069	Systemic Lupus Erythematosus 6	22
1219		CRY024	Crystal Arthropathies	22
1220		IDP069	Idiopathic Avascular Necrosis	22
1221		CRN224	Craniofaciofrontodigital Syndrome	22
1222		TBT001	Tabatznik Syndrome	21
1223	c	ATM093	Autoimmune Disease, Multisystem, Infantile-Onset, 2	21
1224		FBR101	Fibrous Dysplasia / Mccune-Albright Syndrome	21
1225	c	MLT166	Multiple Synostoses Syndrome 4	21
1226		RHZ012	Rhizomelic Dysplasia, Patterson-Lowry Type	21
1227	c	ANT041	Antiphospholipid Syndrome, Familial	21
1228		MLL024	Mueller-Weiss Syndrome	21
1229		EHL036	Ehlers-Danlos/osteogenesis Imperfecta Syndrome	21
1230		OTN001	Otoonychoperoneal Syndrome	21
1231		DYS013	Dysbaric Osteonecrosis	21
1232		IND009	Indeterminate Cell Histiocytosis	21
1233		SGL002	Sagliker Syndrome	21
1234		SLL002	Sella Turcica Neoplasm	21
1235		IMM242	Immunodeficiency 14b, Autosomal Recessive	21
1236		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	21
1237	c	ANG073	Angioedema, Hereditary, 5	21
1238	c	ANG074	Angioedema, Hereditary, 6	20
1239	c	PSR022	Psoriasis 15, Pustular	20
1240	c	EXS021	Exostoses, Multiple, Type Iii	20
1241		ULN007	Ulna Metaphyseal Dysplasia Syndrome	20
1242		HMF007	Hemifacial Hyperplasia with Strabismus	20
1243		MMB012	Membranous Cranial Ossification, Delayed	20
1244		PRG077	Progressive Nodular Histiocytosis	20
1245		CHR400	Chromosome 6q11-Q14 Deletion Syndrome	20
1246	c	46X050	46,xx Sex Reversal 3	20
1247		GNC010	Genochondromatosis	20
1248		DRG017	Drug-Induced Vasculitis	20
1249	c	SYS041	Systemic Lupus Erythematosus 9	20
1250		ANG057	Angioosteohypotrophic Syndrome	20
1251		CND008	Condensing Osteitis of the Clavicle	20
1252		BRC090	Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia	19
1253		ORB004	Orbital Osteomyelitis	19
1254		CTS042	Cutis Laxa, Neonatal, with Marfanoid Phenotype	19
1255	c	ANG076	Angioedema, Hereditary, 8	19
1256		CXR001	Coxoauricular Syndrome	19
1257		PPL038	Papular Xanthoma	19
1258		CLD006	Cleidorhizomelic Syndrome	19
1259		SPH003	Sphenoorbital Meningioma	19
1260		LMB003	Lumbosacral Lipoma	19
1261		PTN011	Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies	18
1262		SYM011	Symphalangism with Multiple Anomalies of Hands and Feet	18
1263		CRD215	Cardioskeletal Syndrome, Kuwaiti Type	18
1264	c	MLT031	Multiple Epiphyseal Dysplasia, Recessive	18
1265		PLV018	Pelvic Hypoplasia with Lower-Limb Arthrogryposis	18
1266		CBP002	Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome	18
1267	c	PRM150	Primary Localized Amyloidosis	18
1268	c	DVL011	Developmental Dysplasia of the Hip 2	18
1269	c	SYS065	Systemic Lupus Erythematosus 11	18
1270		OST148	Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts	18
1271	c	SYS046	Systemic Lupus Erythematosus 3	18
1272		CTN031	Cutaneous Pseudolymphoma	18
1273	c	ANT021	Anterior Foramen Magnum Meningioma	18
1274		BRC100	Brachydactyly, Combined B and E Types	18
1275		SYN025	Syndactyly-Polydactyly-Earlobe Syndrome	18
1276	c	ANG075	Angioedema, Hereditary, 7	18
1277		OST061	Osteosclerosis with Ichthyosis and Premature Ovarian Failure	18
1278	c	SYS048	Systemic Lupus Erythematosus 8	18
1279		HYP497	Hyperphalangy	17
1280	c	SYN040	Synpolydactyly 3	17
1281		CNG284	Congenital Pseudoarthrosis of the Tibia	17
1282		JXT002	Juxtacortical Chondrosarcoma	17
1283		OMP011	Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects	17
1284	c	CNT108	Central Polydactyly	17
1285		CNG529	Congenital Femoral Deficiency	17
1286		ORB003	Orbital Tenonitis	17
1287		CRN258	Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	17
1288		LYS030	Lysosomal Storage Disease with Skeletal Involvement	17
1289		SPN351	Spondyloepimetaphyseal Dysplasia with Abnormal Dentition	17
1290	c	SYS051	Systemic Lupus Erythematosus 4	17
1291	c	SYS053	Systemic Lupus Erythematosus 5	17
1292		PST098	Postinfectious Vasculitis	17
1293		HLL014	Hallux Varus and Preaxial Polysyndactyly	17
1294		BRC092	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome	17
1295	c	ACT247	Acth-Independent Macronodular Adrenal Hyperplasia 1	17
1296		SND010	Sinding-Larsen-Johansson Disease	17
1297		CRN101	Craniosynostosis Philadelphia Type	16
1298	c	ACT246	Acute Mast Cell Leukemia	16
1299	c	LCL005	Localized Chondrosarcoma	16
1300		PNN003	Panner Disease	16
1301	c	PRT113	Parietal Foramina 3	16
1302	c	SYS055	Systemic Lupus Erythematosus 12	16
1303		OST173	Osteoradionecrosis of the Mandible	16
1304		WHB001	Wahab Syndrome	16
1305		MTP021	Metaphyseal Dysplasia, Braun-Tinschert Type	16
1306		LTR005	Lateral Displacement of Eye	16
1307		CNG288	Congenital Absence of Upper Arm and Forearm with Hand Present	16
1308		KLL013	Kallmann Syndrome-Heart Disease Syndrome	16
1309	c	JVN045	Juvenile Ossifying Fibroma	15
1310	c	SYS052	Systemic Lupus Erythematosus 13	15
1311		ACR027	Acrodysplasia Scoliosis	15
1312		CMP073	Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia	15
1313	c	KLP015	Klippel-Feil Syndrome 4	15
1314	c	ACQ036	Acquired Angioedema Type 2	15
1315	c	SYS047	Systemic Lupus Erythematosus 7	15
1316		IMP019	Imperforate Oropharynx-Costovertebral Anomalies Syndrome	15
1317		CRN271	Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism	14
1318	c	ART171	Arthrogryposis Multiplex Congenita-3	14
1319	c	LTH052	Lethal Recessive Chondrodysplasia	14
1320		UNC016	Unclassified Vasculitis	14
1321		IDP040	Idiopathic Eosinophilic Myositis	14
1322		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13
1323	c	ART170	Arthrogryposis Multiplex Congenita-1	13
1324	c	SYS045	Systemic Lupus Erythematosus 14	13
1325		APD003	Apodia	13
1326		MRR013	Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	13
1327	c	ART172	Arthrogryposis Multiplex Congenita-4	12
1328	c	SYS067	Systemic Lupus Erythematosus 15	12
1329	c	ZYG007	Zygodactyly Type 3	12
1330	c	FBN003	Fbn1-Related Marfan Syndrome	12
1331		TYP044	Type 1 Interferonopathy	12
1332	c	KLP013	Klippel-Feil Syndrome 3	11
1333		PRN048	Prenatal Benign Hypophosphatasia	11
1334	c	MLT142	Multiple Epiphyseal Dysplasia, Autosomal Dominant	11
1335		HMR042	Humero-Ulnar Synostosis	11
1336		HYP852	Hypocalcemic Rickets	11
1337	c	FGF015	Fgfr1-Related Hartsfield Syndrome	11
1338	c	ZYG005	Zygodactyly Type 4	10
1339	c	FNC067	Fanconi Renotubular Syndrome 4	10
1340		TBF001	Tibio-Fibular Synostosis	10
1341		FBL017	Fibular Dimelia-Diplopodia Syndrome	10
1342		NNS059	Non-Syndromic Limb Reduction Defect	10
1343		DBR003	Dobrow Syndrome	10
1344	P	PRM337	Primary Osteolysis	9
1345		VSC036	Visceral Calciphylaxis	9
1346		SNG013	Single-Organ Polyarteritis Nodosa	9
1347		ORB001	Orbit Alveolar Rhabdomyosarcoma	9
1348		HRD225	Hereditary Angioedema with Normal C1inh Not Related to F12 or Plg Variant	9
1349		SPH002	Sphenocavernous Meningioma	9
1350		SVR046	Severe Lateral Tibial Bowing with Short Stature	9
1351		OKH002	Okihiro Syndrome Due to 20q13 Microdeletion	9
1352	c	ACQ035	Acquired Angioedema Type 1	8
1353	c	SCN080	Secondary Avascular Necrosis	8
1354		BPR001	Bipartite Talus	8
1355		HMR031	Humeral Agenesis/hypoplasia	8
1356		ISL026	Isolated Sternocostoclavicular Hyperostosis	8
1357		FML352	Familial Scaphocephaly Syndrome	8
1358		PRM335	Primary Bone Dysplasia with Multiple Joint Dislocations	8
1359	c	ADL005	Adult Mesenchymal Chondrosarcoma	7
1360		SPN435	Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia	7
1361		NNT060	Neonatal-Onset Severe Multisystemic Autoinflammatory Disease with Increased Il18	7
1362		ERL060	Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia	7
1363		PRM333	Primary Bone Dysplasia with Decreased Bone Density	7
1364	c	CRB078	Cerebrocostomandibular-Like Syndrome	7
1365		LM5001	Lama5-Related Multisystemic Syndrome	7
1366		SCN081	Secondary Neonatal Autoimmune Disease	6
1367		BNM012	Bone Ameloblastoma	6
1368		ACR083	Acrofacial Dysostosis, Kennedy-Teebi Type	6
1369		PRM332	Primary Bone Dysplasia with Defective Bone Mineralization	6
1370	c	PRD045	Predominantly Large-Vessel Vasculitis	6
1371		TRM028	Terminal Transverse Limb Defect	6
1372	c	DNS012	Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum	5
1373		SPN269	Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type	5
1374		CHL175	Childhood Myxoid Chondrosarcoma	5
1375		FNG012	Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome	5
1376		NNS147	Non-Syndromic Unilambdoid Craniosynostosis	5
1377		NNS148	Non-Syndromic Unisutural Craniosynostosis	5
1378	c	PRX099	Proximal Symphalangism 1	5
1379		NNS140	Non-Syndromic Bilambdoid Craniosynostosis	5
1380		NNS144	Non-Syndromic Unifrontosphenoidal Craniosynostosis	5
1381		CNG391	Congenital Pseudoarthrosis of the Limbs	5
1382		PRM336	Primary Bone Dysplasia with Disorganized Development of Skeletal Components	5
1383		UNX005	Unexplained Periodic Fever Syndrome	5
1384		MXD047	Mixed Autoinflammatory and Autoimmune Syndrome	5
1385		PHL011	Phalanx Chondroma	5
1386		HMR036	Humero-Ulnar Synostosis, Unilateral	5
1387		MR1002	Mir140-Related Spondyloepiphyseal Dysplasia	5
1388		DYS209	Dysostosis with Predominant Vertebral and Costal Involvement	5
1389		NNS136	Non-Syndromic Bicoronal and Sagittal Craniosynostosis	5
1390		ANT097	Antley-Bixler Syndrome Without Genital Anomaly or Disorder of Steroidogenesis	5
1391		MTC001	Metachronous Osteosarcoma of the Bone	4
1392		UNC023	Unclassified Autoinflammatory Syndrome	4
1393		TNS002	Tenosynovitis of Foot and Ankle	4
1394		GNG007	Ganglion or Cyst of Synovium/tendon/bursa	4
1395		BLP052	Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome	4
1396		OTM003	Otomandibular Dysplasia Associated with Monogenic Syndromes	4
1397	c	RRH025	Rare Hereditary Disease with Avascular Necrosis	4
1398		GRN058	Granulomatous Autoinflammatory Syndrome	4
1399		GNT161	Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy	4
1400		DYS202	Dysostosis with Limb Anomaly As a Major Feature	3
1401		DYS206	Dysostosis with Brachydactyly with Extraskeletal Manifestations	3
1402		NNS056	Non-Syndromic Complex Polydactyly	3
1403		ECT112	Ectrodactyly with and Without Other Manifestations	3
1404		CLD020	Cleidocranial Dysplasia and Isolated Cranial Ossification Defect	3
1405	c	ADL028	Adult Extraosseous Chondrosarcoma	3
1406	c	SJG004	Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease	3
1407		RSS001	Ross River Fever	29
1408		BRM001	Barmah Forest Virus Disease	12
1409		BNM001	Bone Marrow Cancer	45
1410	c	PLM143	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3	36
1411	c	PLM195	Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5	21
1412	P	CRP001	Carpal Tunnel Syndrome	66
1413		CHR635	Chromosome 5q Deletion Syndrome	50
1414	c	CRP037	Carpal Tunnel Syndrome 2	26
1415		WRN001	Werner Syndrome	69
1416		DNN001	Danon Disease	60
1417		TLC002	Tolchin-Le Caignec Syndrome	22
1418	P	CNN005	Connective Tissue Disease	67
1419	c	PSD066	Pseudohypoparathyroidism, Type Ib	57
1420	P	SDR003	Sideroblastic Anemia	52
1421		ISL015	Isolated Growth Hormone Deficiency, Type Ib	44
1422		ANM044	Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities	34
1423	P	INC034	Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1	32
1424	P	THY129	Thyroid Hormone Metabolism, Abnormal, 1	32
1425		WRF003	Warfarin Syndrome	31
1426		NRD156	Neurodevelopmental Disorder with Poor Growth and Skeletal Anomalies	29
1427		CRN070	Corneodermatoosseous Syndrome	22
1428	c	THY130	Thyroid Hormone Metabolism, Abnormal, 2	17
1429		NRD175	Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects	9
1430	c	RRH035	Rare Hereditary Connective Tissue Disease	8
1431	c	HRD010	Hereditary Spastic Paraplegia	68
1432	c	MTC056	Mitochondrial Dna Depletion Syndrome 4a	64
1433	P	EMR001	Emery-Dreifuss Muscular Dystrophy	61
1434	c	SPS222	Spastic Paraplegia 20, Autosomal Recessive	61
1435	c	AMG001	Amegakaryocytic Thrombocytopenia, Congenital	60
1436	c	SPS128	Spastic Paraplegia 7, Autosomal Recessive	59
1437	P	INF049	Infantile Myofibromatosis	58
1438	P	MYT023	Myotonia Congenita	57
1439	c	EMR018	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	57
1440	c	MTC054	Mitochondrial Dna Depletion Syndrome 7	57
1441		SCP002	Scapuloperoneal Spinal Muscular Atrophy	57
1442	c	MTC055	Mitochondrial Dna Depletion Syndrome 4b	56
1443	c	SPS215	Spastic Paraplegia 3, Autosomal Dominant	56
1444	c	MTC061	Mitochondrial Dna Depletion Syndrome 1	54
1445	c	MTC063	Mitochondrial Dna Depletion Syndrome 3	53
1446	c	SPS151	Spastic Paraplegia 11, Autosomal Recessive	52
1447	c	MTC058	Mitochondrial Dna Depletion Syndrome 6	52
1448	c	SPS117	Spastic Paraplegia 10, Autosomal Dominant	52
1449	c	SPS147	Spastic Paraplegia 4, Autosomal Dominant	51
1450	c	HRD227	Hereditary Spastic Paraplegia 35	51
1451	c	SPS125	Spastic Paraplegia 15, Autosomal Recessive	51
1452	c	MTC060	Mitochondrial Dna Depletion Syndrome 9	50
1453	c	SPS210	Spastic Paraplegia 76, Autosomal Recessive	50
1454	c	MTC062	Mitochondrial Dna Depletion Syndrome 2	50
1455		CRN048	Craniofacial-Deafness-Hand Syndrome	50
1456	c	EMR020	Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	49
1457	c	SPS127	Spastic Paraplegia 6, Autosomal Dominant	48
1458	c	MTC059	Mitochondrial Dna Depletion Syndrome 5	48
1459	c	SPS219	Spastic Paraplegia 17, Autosomal Dominant	48
1460	c	SPS103	Spastic Paraplegia 50, Autosomal Recessive	48
1461	c	EMR014	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	48
1462	c	SPS203	Spastic Paraplegia 78, Autosomal Recessive	48
1463	P	MTC010	Mitochondrial Dna Depletion Syndrome	47
1464	c	SPS148	Spastic Paraplegia 31, Autosomal Dominant	47
1465	c	SPS116	Spastic Paraplegia 26, Autosomal Recessive	46
1466	c	SPS158	Spastic Paraplegia 9a, Autosomal Dominant	46
1467	c	SPS106	Spastic Paraplegia 54, Autosomal Recessive	46
1468	c	SPS109	Spastic Paraplegia 46, Autosomal Recessive	46
1469	c	HRD220	Hereditary Spastic Paraplegia 30	46
1470	c	SPS213	Spastic Paraplegia 75, Autosomal Recessive	45
1471		MYP071	Myopathy Due to Myoadenylate Deaminase Deficiency	45
1472	c	MTC088	Mitochondrial Dna Depletion Syndrome 13	45
1473	c	SPS108	Spastic Paraplegia 5a, Autosomal Recessive	45
1474	c	SPS129	Spastic Paraplegia 39, Autosomal Recessive	45
1475	c	SPS107	Spastic Paraplegia 18, Autosomal Recessive	45
1476	c	EMR015	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	45
1477	c	SPS149	Spastic Paraplegia 8, Autosomal Dominant	44
1478	c	SPS095	Spastic Paraplegia 47, Autosomal Recessive	44
1479	c	SPS152	Spastic Paraplegia 51, Autosomal Recessive	44
1480	c	SPS130	Spastic Paraplegia 43, Autosomal Recessive	44
1481	c	SPS071	Spastic Paraplegia 48, Autosomal Recessive	44
1482	c	SPS160	Spastic Paraplegia 73, Autosomal Dominant	43
1483	c	SPS157	Spastic Paraplegia 64, Autosomal Recessive	43
1484	c	MTC065	Mitochondrial Dna Depletion Syndrome 8a	43
1485	c	SPS119	Spastic Paraplegia 55, Autosomal Recessive	43
1486	c	SPS137	Spastic Paraplegia 57, Autosomal Recessive	43
1487	c	SPS104	Spastic Paraplegia 53, Autosomal Recessive	42
1488	c	SPS124	Spastic Paraplegia 28, Autosomal Recessive	42
1489	c	SPS099	Spastic Paraplegia 42, Autosomal Dominant	42
1490	c	SPS227	Spastic Paraplegia 62, Autosomal Recessive	42
1491	c	SPS097	Spastic Paraplegia 13, Autosomal Dominant	42
1492	c	SPS096	Spastic Paraplegia 44, Autosomal Recessive	42
1493	c	SPS114	Spastic Paraplegia 45, Autosomal Recessive	41
1494	c	SPS205	Spastic Paraplegia 79, Autosomal Recessive	40
1495	c	SPS159	Spastic Paraplegia 9b, Autosomal Recessive	40
1496		IMM190	Immunodeficiency 55	40
1497	c	SPS141	Spastic Paraplegia 61, Autosomal Recessive	40
1498		SWN003	Sweeney-Cox Syndrome	40
1499	c	SPS131	Spastic Paraplegia 12, Autosomal Dominant	40
1500	c	SPS100	Spastic Paraplegia 38, Autosomal Dominant	39
1501	c	SPS122	Spastic Paraplegia 52, Autosomal Recessive	39
1502	c	MTC078	Mitochondrial Dna Depletion Syndrome 11	39
1503	c	EMR019	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	38
1504	c	SPS238	Spastic Paraplegia 81, Autosomal Recessive	38
1505	c	SPS228	Spastic Paraplegia 63, Autosomal Recessive	38
1506	c	SPS206	Spastic Paraplegia 77, Autosomal Recessive	37
1507	c	SPS232	Spastic Paraplegia 80, Autosomal Dominant	37
1508	c	SPS237	Spastic Paraplegia 30, Autosomal Dominant	36
1509	c	SPS156	Spastic Paraplegia 74, Autosomal Recessive	36
1510	c	SPS123	Spastic Paraplegia 32, Autosomal Recessive	36
1511	c	SPS239	Spastic Paraplegia 82, Autosomal Recessive	36
1512		SHR058	Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly	36
1513	c	SPS092	Spastic Paraplegia 11	35
1514	c	HRD229	Hereditary Spastic Paraplegia 56	35
1515	c	HRD226	Hereditary Spastic Paraplegia 49	34
1516	P	SPS012	Spastic Paraplegia 3a	34
1517	c	CRB099	Cerebrooculofacioskeletal Syndrome 3	33
1518	c	SPS068	Spastic Paraplegia 14, Autosomal Recessive	33
1519	c	MTC126	Mitochondrial Dna Depletion Syndrome 14	33
1520	c	SPS025	Spastic Paraplegia 15	32
1521	c	SPS120	Spastic Paraplegia 24, Autosomal Recessive	32
1522	c	SPS102	Spastic Paraplegia 25, Autosomal Recessive	31
1523	c	SPS110	Spastic Paraplegia 19, Autosomal Dominant	31
1524	c	SPS231	Spastic Paraplegia 23, Autosomal Recessive	31
1525	c	SPS243	Spastic Paraplegia 85, Autosomal Recessive	31
1526	c	HRD188	Hereditary Spastic Paraplegia 72	30
1527	c	SPS244	Spastic Paraplegia 86, Autosomal Recessive	30
1528	c	HRD186	Hereditary Spastic Paraplegia 51	30
1529	c	SPS115	Spastic Paraplegia 41, Autosomal Dominant	30
1530	c	SPS240	Spastic Paraplegia 83, Autosomal Recessive	30
1531	c	SPS138	Spastic Paraplegia 72, Autosomal Recessive	30
1532	c	SPS113	Spastic Paraplegia 33, Autosomal Dominant	30
1533	c	SPS242	Spastic Paraplegia 84, Autosomal Recessive	29
1534	c	SPS013	Spastic Paraplegia 8	29
1535	c	SPS091	Spastic Paraplegia 4	29
1536	c	SPS118	Spastic Paraplegia 36, Autosomal Dominant	27
1537	c	SPS111	Spastic Paraplegia 27, Autosomal Recessive	27
1538	c	MTC143	Mitochondrial Dna Depletion Syndrome 12b	27
1539	c	LTH027	Lethal Congenital Contracture Syndrome 5	26
1540	c	HRD210	Hereditary Spastic Paraplegia 23	25
1541	c	MTC234	Mitochondrial Dna Depletion Syndrome 16b	24
1542	c	MTC139	Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant	24
1543	c	SPS230	Spastic Paraplegia Type 49	24
1544	c	SPS094	Spastic Paraplegia 29, Autosomal Dominant	23
1545	c	MTC236	Mitochondrial Dna Depletion Syndrome 20	23
1546	c	SPS042	Spastic Paraplegia 9	23
1547	c	MTC182	Mitochondrial Dna Depletion Syndrome 16	23
1548	c	SPS105	Spastic Paraplegia 37, Autosomal Dominant	22
1549	c	MTC213	Mitochondrial Dna Depletion Syndrome 19	22
1550	c	MTC200	Mitochondrial Dna Depletion Syndrome 17	21
1551	c	SPS246	Spastic Paraplegia 87, Autosomal Recessive	19
1552	c	ATS412	Autosomal Dominant Spastic Paraplegia Type 9b	16
1553	c	MTC014	Mitochondrial Dna Deletion Syndromes	16
1554	c	ATS187	Autosomal Recessive Spastic Paraplegia Type 69	15
1555	c	ATS191	Autosomal Recessive Spastic Paraplegia Type 67	15
1556	P	ACQ041	Acquired Amegakaryocytic Thrombocytopenia	15
1557	c	ATS185	Autosomal Recessive Spastic Paraplegia Type 59	15
1558	c	ATS190	Autosomal Recessive Spastic Paraplegia Type 66	14
1559	c	ATS188	Autosomal Recessive Spastic Paraplegia Type 70	14
1560	c	ATS189	Autosomal Recessive Spastic Paraplegia Type 71	14
1561		GRW038	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy	14
1562	c	ATS184	Autosomal Recessive Spastic Paraplegia Type 60	13
1563	c	MTC142	Mitochondrial Dna Depletion Syndrome 12a	13
1564		MYT024	Myotonia with Skeletal Abnormalities and Mental Retardation	13
1565	c	MLT169	Multiple Mitochondrial Dna Deletion Syndrome	8
1566	c	SPS040	Spastic Paraplegia 5b	7
1567	P	OST002	Osteoporosis	81
1568		MSC157	Muscular Dystrophy, Duchenne Type	80
1569	P	RTN008	Retinitis Pigmentosa	80
1570	P	ART067	Aortic Aneurysm, Familial Thoracic 1	80
1571	c	PRT133	Proteasome-Associated Autoinflammatory Syndrome 1	80
1572	c	DLT002	Dilated Cardiomyopathy	79
1573	c	MCP050	Mucopolysaccharidosis, Type Ii	76
1574	c	THR092	Thrombophilia Due to Thrombin Defect	75
1575	c	MCP052	Mucopolysaccharidosis, Type Vi	71
1576	c	MNN047	Mannosidosis, Alpha B, Lysosomal	71
1577	c	SPN225	Spondyloarthropathy 1	71
1578		HRL003	Hurler Syndrome	70
1579	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	70
1580	c	PNC108	Pancreatitis, Hereditary	69
1581		SMT004	Smith-Lemli-Opitz Syndrome	69
1582	c	MCP001	Mucopolysaccharidosis Iii	68
1583		CHR593	Chromosome 16p13.3 Deletion Syndrome, Proximal	67
1584	P	CRN037	Craniosynostosis	65
1585	c	MCP043	Mucopolysaccharidosis, Type Iiia	65
1586		RCK004	Rickets	65
1587		OST159	Osteogenic Sarcoma	65
1588	P	CFF008	Coffin-Siris Syndrome 1	65
1589	P	GRF003	Graft-Versus-Host Disease	65
1590		GRG001	Greig Cephalopolysyndactyly Syndrome	64
1591	c	ART028	Aortic Aneurysm, Familial Thoracic 4	64
1592	P	THR117	Three M Syndrome 1	63
1593	c	MCP044	Mucopolysaccharidosis, Type Iiib	63
1594		CHR288	Chronic Recurrent Multifocal Osteomyelitis	63
1595		OST017	Osteomyelitis	63
1596	P	ACR001	Aicardi-Goutieres Syndrome	63
1597	c	MCP045	Mucopolysaccharidosis, Type Iiic	62
1598		SCH016	Schimke Immunoosseous Dysplasia	62
1599	P	TRC072	Treacher Collins Syndrome 1	62
1600	c	MCP004	Mucopolysaccharidosis Iv	62
1601	P	HYP069	Hyperparathyroidism	62
1602		ASP002	Aspartylglucosaminuria	62
1603	P	CRN052	Craniometaphyseal Dysplasia, Autosomal Dominant	62
1604		PRM057	Paramyotonia Congenita of Von Eulenburg	62
1605		CHL028	Childhood Type Dermatomyositis	61
1606		WVR001	Weaver Syndrome	61
1607	P	TRC086	Trichohepatoenteric Syndrome 1	60
1608		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	60
1609		CRN005	Craniofrontonasal Syndrome	60
1610		ADL030	Adult-Onset Still's Disease	60
1611		OST003	Osteonecrosis	60
1612		OST015	Osteochondrodysplasia	60
1613	P	NTR004	Neutropenia	60
1614		GRN051	Granulomatous Disease, Chronic, X-Linked	60
1615	c	THR082	Thrombophilia Due to Activated Protein C Resistance	60
1616		CHR072	Chordoma	59
1617	c	ACT027	Acute Pancreatitis	59
1618		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	59
1619	c	STC015	Stickler Syndrome, Type I	58
1620		PSD012	Pseudoachondroplasia	58
1621	c	CRB193	Cerebral Amyloid Angiopathy, App-Related	58
1622	c	OST131	Osteopetrosis, Autosomal Dominant 2	57
1623	P	EHL078	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	57
1624	c	MCP048	Mucopolysaccharidosis, Type Ivb	57
1625	c	RBN022	Robinow Syndrome, Autosomal Recessive 1	57
1626	c	CHL140	Chilblain Lupus 1	56
1627		CPL003	Capillary Leak Syndrome	56
1628	c	MCP046	Mucopolysaccharidosis, Type Iiid	56
1629	c	CRD093	Cardiomyopathy, Dilated, 1a	56
1630	P	FML052	Familial Cold Autoinflammatory Syndrome	56
1631	P	WLL002	Weill-Marchesani Syndrome	56
1632	c	CRD099	Cardiomyopathy, Dilated, 1e	55
1633	P	FRN036	Frontonasal Dysplasia 1	55
1634	P	PNC044	Pancreatitis	55
1635		PYD001	Pyoderma Gangrenosum	55
1636	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	54
1637	P	BNC003	Bone Cancer	54
1638	c	CRD080	Cardiomyopathy, Dilated, 1g	54
1639		DNT045	Dental Anomalies and Short Stature	53
1640	c	GM1005	Gm1-Gangliosidosis, Type Ii	53
1641		YNS002	Yunis-Varon Syndrome	53
1642	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	53
1643		MCR225	Macrophage Activation Syndrome	53
1644		MTT002	Metatropic Dysplasia	53
1645	c	MLT128	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	53
1646	c	HYP292	Hypophosphatasia, Infantile	53
1647		FTL075	Fetal Encasement Syndrome	53
1648	c	CRN278	Craniosynostosis 1	53
1649	c	NTR049	Neutropenia, Severe Congenital, 3, Autosomal Recessive	52
1650	c	CRD187	Cardiomyopathy, Dilated, 3b	52
1651	P	SCL048	Sclerosteosis	52
1652	P	FRN012	Frontometaphyseal Dysplasia	52
1653	P	THR015	Thrombophilia	52
1654		OST016	Osteochondrosis	52
1655	c	MYP125	Myopathy, Distal, 1	52
1656		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	51
1657	P	EHL085	Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	51
1658	P	ACH011	Achondrogenesis	51
1659	P	ANX007	Anauxetic Dysplasia 1	51
1660	P	PRT042	Parietal Foramina	51
1661		SHR098	Short-Rib Thoracic Dysplasia 12	51
1662		ALP043	Alpha-2-Plasmin Inhibitor Deficiency	50
1663		FBL008	Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly	50
1664	P	MLT140	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	50
1665	c	ACH033	Achondrogenesis, Type Ia	50
1666		DYS160	Dyssegmental Dysplasia, Silverman-Handmaker Type	50
1667		GNT026	Gnathodiaphyseal Dysplasia	50
1668	c	ACT135	Acute Graft Versus Host Disease	49
1669	P	OTS001	Otosclerosis	49
1670		CLB019	Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly	49
1671	c	MLT126	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	49
1672	P	PRR002	Pure Red-Cell Aplasia	49
1673		SPL004	Splenic Marginal Zone Lymphoma	49
1674	P	ORF001	Orofaciodigital Syndrome	49
1675	P	TTR031	Tetraamelia Syndrome	48
1676		FLP001	Filippi Syndrome	48
1677	c	ATM024	Autoimmune Pancreatitis	48
1678	c	NRP033	Neuropathy, Hereditary Sensory and Autonomic, Type Ia	48
1679	c	RTN041	Retinitis Pigmentosa 11	48
1680	c	CHR417	Chronic Graft Versus Host Disease	48
1681	c	RTS003	Ritscher-Schinzel Syndrome 1	48
1682		RNS001	Raine Syndrome	48
1683	P	SPN448	Spondyloepimetaphyseal Dysplasia with Joint Laxity	48
1684	c	CRD233	Cardiomyopathy, Dilated, 1b	48
1685		MYP091	Myopathy, Congenital, with Fiber-Type Disproportion	48
1686	c	PSD106	Pseudo-Torch Syndrome 1	48
1687		SPN289	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	47
1688		ATN021	Autoinflammatory Syndrome	47
1689	c	RTN042	Retinitis Pigmentosa 12	47
1690	c	RTN141	Retinitis Pigmentosa 39	47
1691		TNS014	Tenosynovitis	47
1692	c	RTN172	Retinitis Pigmentosa 1	47
1693	c	RTN069	Retinitis Pigmentosa 7	47
1694	c	RTN162	Retinitis Pigmentosa 2	47
1695		TRC118	Trichodentoosseous Syndrome	47
1696	c	CRD097	Cardiomyopathy, Dilated, 1d	47
1697	c	MLT127	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	47
1698	P	PRX021	Proximal Symphalangism	47
1699		MYP094	Myopathy, Spheroid Body	47
1700	c	ACR116	Aicardi-Goutieres Syndrome 1	46
1701	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	46
1702	c	OST136	Osteopetrosis, Autosomal Recessive 7	46
1703		CDG001	Cdags Syndrome	46
1704	c	CRD105	Cardiomyopathy, Dilated, 1o	46
1705	c	RTN058	Retinitis Pigmentosa 3	46
1706	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	46
1707	c	RTN054	Retinitis Pigmentosa 25	46
1708	c	CRN240	Craniometaphyseal Dysplasia, Autosomal Recessive	46
1709	c	RTN055	Retinitis Pigmentosa 26	45
1710	c	RTN043	Retinitis Pigmentosa 13	45
1711		SPN030	Spondyloepimetaphyseal Dysplasia, Missouri Type	45
1712		LRW001	Leri-Weill Dyschondrosteosis	45
1713	c	WLL036	Weill-Marchesani Syndrome 1	45
1714	P	CHN044	Chondrodysplasia Punctata Syndrome	44
1715	c	RTN066	Retinitis Pigmentosa 4	44
1716	c	NRP040	Neuropathy, Hereditary Sensory and Autonomic, Type Ic	44
1717	c	RTN044	Retinitis Pigmentosa 14	44
1718		SPN302	Spondylometaphyseal Dysplasia, Kozlowski Type	44
1719		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	44
1720		PRS051	Parastremmatic Dwarfism	44
1721		WLD008	Wild-Type Amyloidosis	44
1722		TRM011	Terminal Osseous Dysplasia	44
1723	c	CFF009	Coffin-Siris Syndrome 4	44
1724	c	CRD155	Cardiomyopathy, Dilated, 1kk	44
1725	c	CRD091	Cardiomyopathy, Dilated, 1dd	43
1726		BNS001	Bone Osteosarcoma	43
1727		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	43
1728	c	MCP051	Mucopolysaccharidosis, Type Ix	43
1729	c	MYP095	Myopathy, Distal, 4	43
1730		OST014	Osteopoikilosis	43
1731	c	RTN159	Retinitis Pigmentosa 45	43
1732	c	TRC078	Trichohepatoenteric Syndrome 2	43
1733	c	GRN064	Granulomatous Disease, Chronic, Autosomal Recessive, 3	43
1734		SLT009	Solitary Bone Cyst	43
1735	c	CRD069	Cardiomyopathy, Dilated, 1h	42
1736	c	KNN007	Kenny-Caffey Syndrome, Type 2	42
1737	c	RTN157	Retinitis Pigmentosa 37	42
1738	c	RTN177	Retinitis Pigmentosa 73	42
1739		HYP041	Hypochondrogenesis	42
1740		BSL048	Basilicata-Akhtar Syndrome	41
1741	c	RTN142	Retinitis Pigmentosa 38	41
1742	c	RTN050	Retinitis Pigmentosa 20	41
1743	c	ANM049	Anemia, Congenital Dyserythropoietic, Type Ib	41
1744		BNS007	Bone Sarcoma	41
1745	c	RTN090	Retinitis Pigmentosa 55	41
1746	c	RTN047	Retinitis Pigmentosa 18	41
1747	c	RTN062	Retinitis Pigmentosa 33	41
1748	c	CRD090	Cardiomyopathy, Dilated, 1l	41
1749	c	MLT179	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	41
1750		GNT001	Giant Cell Reparative Granuloma	41
1751		ATN011	Autoinflammation with Infantile Enterocolitis	41
1752	c	FRN049	Frontometaphyseal Dysplasia 1	41
1753	c	MYT027	Myotonia Congenita, Autosomal Dominant	41
1754		SPN391	Spondyloepiphyseal Dysplasia, Maroteaux Type	41
1755	c	ORF038	Orofaciodigital Syndrome Iii	41
1756	c	RTN085	Retinitis Pigmentosa 54	41
1757		FML307	Familial Calcium Pyrophosphate Deposition	40
1758		KMR001	Kimura Disease	40
1759	c	CRD063	Cardiomyopathy, Dilated, 2a	40
1760		NPH098	Nephrolithiasis, X-Linked Recessive, with Renal Failure	40
1761		IMM187	Immunodeficiency 38 with Basal Ganglia Calcification	40
1762	c	CFF011	Coffin-Siris Syndrome 6	40
1763	P	PRM018	Primary Hypertrophic Osteoarthropathy	40
1764	c	SVR110	Severe Congenital Neutropenia 4	40
1765	c	RTN230	Retinitis Pigmentosa 88	39
1766		DST008	Diastematomyelia	39
1767		LCL004	Localized Osteosarcoma	39
1768	c	KNN009	Kenny-Caffey Syndrome, Type 1	39
1769	c	RTN180	Retinitis Pigmentosa 74	39
1770	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	39
1771		KHL001	Kohler's Disease	39
1772	c	DNT021	Dent Disease 2	39
1773	c	RTN210	Retinitis Pigmentosa 50	39
1774	c	CRD114	Cardiomyopathy, Dilated, 1m	39
1775	c	RTN059	Retinitis Pigmentosa 30	39
1776	c	RTN048	Retinitis Pigmentosa 19	39
1777	c	PLY149	Polydactyly, Preaxial Iv	39
1778	c	SCN005	Secondary Hypertrophic Osteoarthropathy	38
1779	c	CFF007	Coffin-Siris Syndrome 2	38
1780	c	CRN277	Craniosynostosis 2	38
1781	c	CFF010	Coffin-Siris Syndrome 3	38
1782	c	ACR091	Aicardi-Goutieres Syndrome 4	38
1783		ACR095	Acrofacial Dysostosis, Cincinnati Type	38
1784	c	ACR088	Aicardi-Goutieres Syndrome 3	38
1785		CHR391	Chromosome 15q24 Deletion Syndrome	38
1786		THR068	Thrombophilia Due to Protein C Deficiency, Autosomal Recessive	38
1787	c	RTN070	Retinitis Pigmentosa 9	38
1788	c	WLL037	Weill-Marchesani Syndrome 2	38
1789		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	38
1790	c	SVR106	Severe Congenital Neutropenia 5	38
1791	c	NTR050	Neutropenia, Severe Congenital, 4, Autosomal Recessive	38
1792	c	CRD101	Cardiomyopathy, Dilated, 1x	38
1793		PRX093	Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias	37
1794	c	RTN130	Retinitis Pigmentosa 46	37
1795		BKS003	Beukes Hip Dysplasia	37
1796	P	YWS001	Yaws	37
1797	c	ACR092	Aicardi-Goutieres Syndrome 5	37
1798		SPN438	Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy	37
1799	c	TRC071	Treacher Collins Syndrome 3	37
1800	c	NTR047	Neutropenia, Severe Congenital, 1, Autosomal Dominant	37
1801	c	PRT134	Proteasome-Associated Autoinflammatory Syndrome 3	37
1802	P	MTP005	Metaphyseal Anadysplasia	37
1803		PRG080	Progressive Non-Infectious Anterior Vertebral Fusion	37
1804	c	ACR081	Aicardi-Goutieres Syndrome 6	37
1805	c	RTN146	Retinitis Pigmentosa 62	37
1806	c	RTN056	Retinitis Pigmentosa 28	37
1807		CLR005	Clear Cell Chondrosarcoma	37
1808	c	FRN048	Frontometaphyseal Dysplasia 2	37
1809	c	CRD064	Cardiomyopathy, Dilated, 1ff	37
1810	c	RTN046	Retinitis Pigmentosa 17	37
1811	c	SPN263	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2	37
1812		PTL009	Patella, Chondromalacia of	37
1813		TMR017	Tumoral Calcinosis, Normophosphatemic, Familial	37
1814		OSG001	Osgood-Schlatter's Disease	36
1815	c	ACR090	Aicardi-Goutieres Syndrome 2	36
1816	c	CRD082	Cardiomyopathy, Dilated, 1gg	36
1817	c	RTN134	Retinitis Pigmentosa 40	36
1818	c	RTN052	Retinitis Pigmentosa 23	36
1819	c	RTN131	Retinitis Pigmentosa 27	36
1820	c	WLL040	Weill-Marchesani Syndrome 4	36
1821		KKC001	Kikuchi Disease	36
1822		PRM319	Primary Bone Dysplasia	36
1823	P	INT404	Intellectual Developmental Disorder, X-Linked, Syndromic 13	36
1824	c	RTS002	Ritscher-Schinzel Syndrome 2	36
1825	P	BNL002	Bone Lymphoma	36
1826		HMR015	Humeroradial Synostosis	36
1827	c	RTN166	Retinitis Pigmentosa 69	35
1828		NNT039	Neonatal Marfan Syndrome	35
1829	c	RTN171	Retinitis Pigmentosa 59	35
1830	c	RTN237	Retinitis Pigmentosa 91	35
1831	c	RTN150	Retinitis Pigmentosa 10	35
1832	c	CRD104	Cardiomyopathy, Dilated, 1p	35
1833		BNS004	Bone Squamous Cell Carcinoma	35
1834	c	PLY136	Polydactyly, Preaxial I	35
1835		PNT003	Pinta Disease	35
1836	c	RTN152	Retinitis Pigmentosa 66	35
1837	c	RTN176	Retinitis Pigmentosa 71	35
1838		ENT010	Enthesitis-Related Juvenile Idiopathic Arthritis	34
1839		EHL061	Ehlers-Danlos Syndrome, Cardiac Valvular Type	34
1840	c	RTN114	Retinitis Pigmentosa 58	34
1841	c	CRD159	Cardiomyopathy, Dilated, 1hh	34
1842	c	ATS483	Autosomal Dominant Severe Congenital Neutropenia	34
1843	c	ACR084	Aicardi-Goutieres Syndrome 7	34
1844		CNV021	Conventional Osteosarcoma	34
1845	c	RTN186	Retinitis Pigmentosa 75	34
1846	c	RTN149	Retinitis Pigmentosa 42	34
1847		SKL030	Skull Base Cancer	34
1848	c	RTN217	Retinitis Pigmentosa 83	34
1849	c	NTR054	Neutropenia, Severe Congenital, 8, Autosomal Dominant	33
1850	c	CFF014	Coffin-Siris Syndrome 9	33
1851	c	CRD102	Cardiomyopathy, Dilated, 1j	33
1852		TBL008	Tibial Hemimelia	33
1853	c	RTN060	Retinitis Pigmentosa 31	33
1854		AXL003	Axial Osteomalacia	33
1855	c	CRD107	Cardiomyopathy, Dilated, 1r	33
1856	c	RTN227	Retinitis Pigmentosa 86	33
1857	c	RTN234	Retinitis Pigmentosa 90	33
1858	c	RTN165	Retinitis Pigmentosa 68	33
1859	c	CRN281	Craniosynostosis 7	33
1860		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	33
1861	c	TRC073	Treacher Collins Syndrome 2	33
1862	P	CMP072	Camptodactyly Syndrome, Guadalajara, Type I	33
1863		PSD030	Pseudodiastrophic Dysplasia	33
1864	c	RTN233	Retinitis Pigmentosa 89	33
1865	c	RTN218	Retinitis Pigmentosa 84	32
1866	P	RTS001	Ritscher-Schinzel Syndrome	32
1867	c	CRD096	Cardiomyopathy, Dilated, 1ee	32
1868		HYP193	Hypocomplementemic Urticarial Vasculitis	32
1869	P	TRC034	Torch Syndrome	32
1870		SPN352	Spondyloepimetaphyseal Dysplasia, Genevieve Type	32
1871	c	RTN144	Retinitis Pigmentosa 61	32
1872		HYP364	Hyperostosis Frontalis Interna	32
1873	c	ORF036	Orofaciodigital Syndrome Xiv	32
1874	c	SVR104	Severe Congenital Neutropenia 7	32
1875	P	HRD207	Hereditary Transthyretin Amyloidosis	32
1876	c	RTN140	Retinitis Pigmentosa 67	32
1877	c	RTN190	Retinitis Pigmentosa 76	32
1878	c	RTN064	Retinitis Pigmentosa 35	32
1879		SGR001	Sugarman Brachydactyly	32
1880		12Q002	12q14 Microdeletion Syndrome	32
1881	P	GRW041	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive	32
1882	c	RTN106	Retinitis Pigmentosa 51	32
1883	c	RTN116	Retinitis Pigmentosa 56	31
1884	c	RTN061	Retinitis Pigmentosa 32	31
1885	c	PSD107	Pseudo-Torch Syndrome 2	31
1886		CRN266	Craniofacial Dyssynostosis with Short Stature	31
1887		LMB010	Lambert Syndrome	31
1888		MCR119	Microtia, Hearing Impairment, and Cleft Palate	31
1889	c	RTN192	Retinitis Pigmentosa 77	31
1890	c	RTN178	Retinitis Pigmentosa 72	31
1891	c	SYM022	Symphalangism, Proximal, 1a	31
1892	c	INT384	Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	31
1893	c	INT435	Intellectual Developmental Disorder, X-Linked, Syndromic 33	31
1894	c	RTN117	Retinitis Pigmentosa 57	31
1895	P	NNT042	Neonatal Lupus Erythematosus	31
1896	c	RTN160	Retinitis Pigmentosa 60	31
1897	c	NTR031	Neutropenia, Severe Congenital, 5, Autosomal Recessive	31
1898	c	RTN057	Retinitis Pigmentosa 29	31
1899	c	RTN067	Retinitis Pigmentosa 41	31
1900		ACR017	Acrofacial Dysostosis	31
1901	c	INT443	Intellectual Developmental Disorder, X-Linked, Syndromic, 35	30
1902		OTF006	Otofaciocervical Syndrome 2, with T-Cell Deficiency	30
1903		PRS145	Parosteal Osteosarcoma	30
1904		BNP002	Bone Epithelioid Hemangioma	30
1905	c	FNG009	Feingold Syndrome 2	30
1906		CNG545	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies	30
1907	c	RTN133	Retinitis Pigmentosa 43	30
1908		CHL163	Childhood Osteosarcoma	30
1909		SPN133	Spondyloepimetaphyseal Dysplasia with Multiple Dislocations	30
1910	c	FRN032	Frontonasal Dysplasia 3	30
1911	c	ART071	Aortic Aneurysm, Familial Thoracic 6	30
1912	c	RTN136	Retinitis Pigmentosa 44	30
1913	c	RTN213	Retinitis Pigmentosa 80	30
1914	c	ART105	Aortic Aneurysm, Familial Thoracic 7	30
1915		VRV001	Ververi-Brady Syndrome	30
1916	c	RTN065	Retinitis Pigmentosa 36	30
1917	c	PRS050	Prss1-Related Hereditary Pancreatitis	30
1918	c	ATM102	Autoimmune Cardiomyopathy	30
1919	c	RTN129	Retinitis Pigmentosa 49	30
1920	c	INT436	Intellectual Developmental Disorder, X-Linked, Syndromic 34	30
1921		PRP024	Peripheral Osteosarcoma	29
1922	c	CFF013	Coffin-Siris Syndrome 8	29
1923	c	NTR051	Neutropenia, Severe Congenital, 2, Autosomal Dominant	29
1924		MTP023	Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly	29
1925		FMR002	Femoral Cancer	29
1926		ANK013	Ankyloblepharon Filiforme Adnatum and Cleft Palate	29
1927	P	ACR093	Acrofrontofacionasal Dysostosis	29
1928		SPN208	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	29
1929		HMF010	Hemifacial Microsomia with Radial Defects	29
1930	c	MYP112	Myopathy, Distal, 3	29
1931	c	SVR109	Severe Congenital Neutropenia 8	29
1932	c	ART134	Aortic Aneurysm, Familial Thoracic 10	29
1933		MSM016	Mesomelic Dysplasia, Kantaputra Type	29
1934		BRC091	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	29
1935		PST044	Postorgasmic Illness Syndrome	28
1936	P	PRT259	Proteasome-Associated Autoinflammatory Syndrome	28
1937	c	CRN217	Craniosynostosis 3	28
1938		SML003	Small Cell Osteogenic Sarcoma	28
1939	c	CRN221	Craniosynostosis 4	28
1940	c	TTR028	Tetraamelia Syndrome 1	28
1941	c	RTN143	Retinitis Pigmentosa 47	28
1942		SPR033	Superficial Spreading Melanoma	28
1943	c	CFF012	Coffin-Siris Syndrome 7	28
1944	c	NTR044	Neutropenia, Severe Congenital, 7, Autosomal Recessive	28
1945		NNS135	Non-Syndromic Sagittal Craniosynostosis	28
1946	c	SYS066	Systemic Polyarteritis Nodosa	28
1947		KLP016	Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism	28
1948		ORB009	Orbit Lymphoma	28
1949	c	CFF017	Coffin-Siris Syndrome 12	28
1950	c	RTN219	Retinitis Pigmentosa 85	28
1951		CRN200	Craniosynostosis and Dental Anomalies	27
1952		OST153	Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	27
1953		SPS188	Spastic Paraplegia-Paget Disease of Bone Syndrome	27
1954	c	CRD162	Cardiomyopathy, Dilated, 1ii	27
1955		FMR016	Femur-Fibula-Ulna Syndrome	27
1956	c	CRD111	Cardiomyopathy, Dilated, 1i	27
1957	c	ACR124	Aicardi-Goutieres Syndrome 9	27
1958	c	ACQ016	Acquired Pure Red Cell Aplasia	27
1959		ART136	Arthrogryposis, Distal, with Impaired Proprioception and Touch	27
1960		HLP019	Holoprosencephaly, Semilobar, with Craniosynostosis	27
1961		JNT001	Joint Laxity, Familial	27
1962	c	MYP116	Myopathy, Distal, 5	27
1963		MCR039	Macrophagic Myofasciitis	27
1964	c	CFF006	Coffin-Siris Syndrome 5	27
1965	c	NNT025	Neonatal Systemic Lupus Erythematosus	27
1966	P	FML337	Familial Chilblain Lupus	27
1967		KNB002	Kienbock's Disease	27
1968		IGG013	Igg4-Related Pachymeningitis	27
1969	c	THR023	Thrombophilia Due to Thrombomodulin Defect	27
1970	c	RTN068	Retinitis Pigmentosa 6	26
1971	c	OTS005	Otosclerosis 1	26
1972	c	CRD108	Cardiomyopathy, Dilated, 1bb	26
1973		XNT009	Xanthoma Disseminatum	26
1974	P	ZYG003	Zygodactyly 1	26
1975		CVR001	Cavernous Sinus Meningioma	26
1976	c	CRD115	Cardiomyopathy, Dilated, 1cc	26
1977	c	CRN256	Craniosynostosis 6	26
1978	c	NTR034	Neutropenia, Severe Congenital, 6, Autosomal Recessive	26
1979		ACR101	Acrocraniofacial Dysostosis	26
1980	c	CRD149	Cardiomyopathy, Dilated, 1jj	26
1981	P	MCR161	Macroglobulinemia, Waldenstrom 1	26
1982	c	RTS005	Ritscher-Schinzel Syndrome 4	26
1983	c	INT421	Intellectual Developmental Disorder, X-Linked, Syndromic 14	26
1984	c	RTN169	Retinitis Pigmentosa 70	26
1985	c	CRD060	Cardiomyopathy, Dilated, 1z	26
1986	c	RTN053	Retinitis Pigmentosa 24	26
1987	c	CRD112	Cardiomyopathy, Dilated, 1u	26
1988	c	SYM019	Symphalangism, Proximal, 1b	25
1989		BNB001	Bone Benign Neoplasm	25
1990	c	ANX011	Anauxetic Dysplasia 3	25
1991	c	PRT136	Proteasome-Associated Autoinflammatory Syndrome 2	25
1992	c	ART107	Aortic Aneurysm, Familial Thoracic 8	25
1993	c	TTR029	Tetraamelia Syndrome 2	25
1994		GLL035	Gillessen-Kaesbach-Nishimura Syndrome	25
1995		FBR028	Fibrosing Mediastinitis	25
1996	c	SVR108	Severe Congenital Neutropenia 6	25
1997	c	INT407	Intellectual Developmental Disorder, X-Linked, Syndromic 11	25
1998	c	CRD113	Cardiomyopathy, Dilated, 1v	25
1999	c	CRD092	Cardiomyopathy, Dilated, 1w	25
2000		PTT071	Pituitary Hormone Deficiency, Combined or Isolated, 7	25
2001		IMM247	Immunoglobulin Heavy Chain Amyloidosis	25
2002	c	ACR105	Acrofrontofacionasal Dysostosis 2	25
2003		STC018	Stac3 Disorder	25
2004		PRP090	Peripheral Dysostosis	25
2005	c	CRD173	Cardiomyopathy, Dilated, 1nn	25
2006	P	VTM003	Vitamin Metabolic Disorder	25
2007		ART154	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development	25
2008		MTP004	Metaphyseal Acroscyphodysplasia	25
2009		OST151	Osteoporosis and Oculocutaneous Hypopigmentation Syndrome	25
2010	c	WLL038	Weill-Marchesani Syndrome 3	25
2011	c	SPN434	Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3	24
2012	c	CFF015	Coffin-Siris Syndrome 10	24
2013	c	ACR123	Aicardi-Goutieres Syndrome 8	24
2014	c	PSD121	Pseudo-Torch Syndrome 3	24
2015	c	RTN051	Retinitis Pigmentosa 22	24
2016	c	CRD153	Cardiomyopathy, Dilated, 2b	24
2017	c	RNG015	Ring Chromosome 2	24
2018	c	CHL114	Chilblain Lupus 2	24
2019		CLV012	Clavicle, Pseudarthrosis of, Congenital	24
2020		IGG015	Igg4-Related Thyroid Disease	24
2021		NNH013	Non-Histaminic Angioedema	24
2022	c	RTN195	Retinitis Pigmentosa 79	24
2023		DND013	Dandy-Walker Malformation with Postaxial Polydactyly	24
2024	c	NTR056	Neutropenia, Severe Congenital, 9, Autosomal Dominant	24
2025		SPN349	Spondylometaphyseal Dysplasia, Type A4	24
2026	c	CFF016	Coffin-Siris Syndrome 11	23
2027		DYS179	Dyssegmental Dysplasia, Rolland-Desbuquois Type	23
2028	c	PRT255	Proteasome-Associated Autoinflammatory Syndrome 4	23
2029	c	CRN216	Craniosynostosis 5	23
2030	c	ART118	Aortic Aneurysm, Familial Thoracic 9	23
2031	c	RTN147	Retinitis Pigmentosa 48	23
2032		STR014	Sternum Lymphoma	23
2033	c	PLD003	Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome	23
2034	c	NTR045	Neutropenia, Chronic Familial	23
2035	c	DLT017	Dilated Cardiomyopathy 1t	23
2036	c	RTN148	Retinitis Pigmentosa 63	23
2037		OST177	Osteochondrosis of the Metatarsal Bone	22
2038	c	CRD250	Cardiomyopathy, Dilated, 2d	22
2039		ULN005	Ulna and Fibula, Hypoplasia of	22
2040	c	CRD244	Cardiomyopathy, Dilated, 2c	22
2041		GLB029	Global Developmental Delay with Speech and Behavioral Abnormalities	22
2042	c	CRD261	Cardiomyopathy, Dilated, 2g	22
2043		SHR123	Short Stature and Microcephaly with Genital Anomalies	22
2044		MCR308	Microcephalic Primordial Dwarfism, Toriello Type	22
2045		STR017	Sternum Cancer	22
2046	c	TRC126	Treacher Collins Syndrome 4	22
2047	c	RTS004	Ritscher-Schinzel Syndrome 3	22
2048		SMM003	Summitt Syndrome	22
2049	c	ART068	Aortic Aneurysm, Familial Thoracic 2	22
2050	c	RTN214	Retinitis Pigmentosa 81	22
2051	c	ART174	Aortic Aneurysm, Familial Thoracic 12	22
2052	c	RTN196	Retinitis Pigmentosa 78	22
2053		MLT148	Multiple Pterygium Syndrome, X-Linked	22
2054	P	RSS029	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha	21
2055	c	MYP158	Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	21
2056	c	PRM243	Primary Bone Cancer	21
2057		CYL003	Cylindrical Spirals Myopathy	21
2058		HST018	Histiocytosis, Progressive Mucinous	21
2059		BRC093	Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction	21
2060	c	GRW042	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant	21
2061	c	CRD255	Cardiomyopathy, Dilated, 2e	21
2062		CHR159	Charlie M Syndrome	21
2063		FMR013	Femoral Agenesis/hypoplasia	21
2064	c	ART133	Aortic Aneurysm, Familial Thoracic 11	21
2065		EDN001	Edinburgh Malformation Syndrome	21
2066		CLV003	Clivus Meningioma	21
2067		SPN353	Spondylometaphyseal Dysplasia, X-Linked	21
2068	c	ACR103	Acrofrontofacionasal Dysostosis 1	21
2069	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	21
2070		END088	Endove Syndrome, Limb-Brain Type	20
2071		KT6003	Kat6b-Related Multiple Congenital Anomalies Syndrome	20
2072	c	SVR103	Severe Congenital Neutropenia 1	20
2073		IGG014	Igg4-Related Sclerosing Cholangitis	20
2074	c	CRD260	Cardiomyopathy, Dilated, 2f	20
2075	c	WHM003	Whim Syndrome 2	20
2076	c	CMP088	Camptodactyly Syndrome, Guadalajara, Type Iii	20
2077		RBN019	Robin Sequence with Distinctive Facial Appearance and Brachydactyly	20
2078		PYK001	Pyknoachondrogenesis	20
2079	c	RTN239	Retinitis Pigmentosa 93	20
2080	c	INT429	Intellectual Developmental Disorder, X-Linked, Syndromic 32	20
2081		RDH004	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies	20
2082		DYS183	Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas	19
2083		APH014	Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv	19
2084	c	RSS030	Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta	19
2085	c	RTN063	Retinitis Pigmentosa 34	19
2086		HND012	Handigodu Joint Disease	19
2087	c	RTN238	Retinitis Pigmentosa 92	19
2088		TBB005	Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies	19
2089		SLC024	Slc4a1-Associated Distal Renal Tubular Acidosis	19
2090		APM002	Aapoai Amyloidosis	19
2091	c	ATM063	Autoimmune Pancreatitis Type 2	19
2092		CMP016	Camptobrachydactyly	19
2093		ECT086	Ectrodactyly-Polydactyly	18
2094		BRC096	Brachydactyly-Distal Symphalangism Syndrome	18
2095		ARC009	Auriculoosteodysplasia	18
2096	c	INT498	Intellectual Developmental Disorder, X-Linked, Syndromic 9	18
2097		RDL039	Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	18
2098		IGG012	Igg4-Related Submandibular Gland Disease	18
2099	c	OTS007	Otosclerosis 3	18
2100	c	RTN206	Retinitis Pigmentosa, Late-Adult Onset	18
2101		BNC005	Bone Chondrosarcoma	18
2102		CRT079	Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta	18
2103		OST046	Osteopathia Striata with Pigmentary Dermopathy Including White Forelock	18
2104		VLJ001	Viljoen Kallis Voges Syndrome	18
2105	c	ACQ053	Acquired Neutropenia	18
2106		SPN347	Spondyloepiphyseal Dysplasia Tarda with Mental Retardation	17
2107	c	ATS450	Autosomal Recessive Severe Congenital Neutropenia	17
2108	c	PRT254	Proteasome-Associated Autoinflammatory Syndrome 5	17
2109	c	INT470	Intellectual Developmental Disorder, X-Linked, Syndromic 7	17
2110		ORM001	Oro-Mandibular-Limb Hypogenesis Syndrome	17
2111		NNS132	Non-Syndromic Craniosynostosis	17
2112		SPN155	Spondylospinal Thoracic Dysostosis	17
2113	P	RRC004	Rare Cardiomyopathy	17
2114		JVN060	Juvenile Idiopathic Inflammatory Myopathy	17
2115		ADC008	Adactylia, Unilateral	17
2116	c	THR119	Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	16
2117		CNS012	Cono-Spondylar Dysplasia	16
2118	c	OTS009	Otosclerosis 5	16
2119		EYB005	Eyebrows, Duplication of, with Stretchable Skin and Syndactyly	16
2120	c	OTS010	Otosclerosis 7	16
2121	c	INT500	Intellectual Developmental Disorder, X-Linked, Syndromic 17	16
2122	c	OTS012	Otosclerosis 10	16
2123	c	SCN082	Secondary Vasculitis	16
2124	c	OTS011	Otosclerosis 8	16
2125		PST104	Postaxial Oligodactyly, Tetramelic	16
2126	c	SVR105	Severe Congenital Neutropenia 2	16
2127		MGC006	Magic Syndrome	16
2128	c	NNS043	Nonsyndromic Retinitis Pigmentosa	16
2129	c	PRM369	Primary Acquired Pure Red Cell Aplasia	16
2130		CLS055	Classic Pyoderma Gangrenosum	16
2131	c	INT503	Intellectual Developmental Disorder, X-Linked, Syndromic 12	16
2132	c	OTS006	Otosclerosis 2	15
2133	c	ADL074	Adult-Onset Distal Myopathy Due to Vcp Mutation	15
2134	P	LGB001	Leg Absence Deformity Cataract	15
2135	c	CRD070	Cardiomyopathy, Dilated, 1k	15
2136		AML037	Amelia of Upper Limb	15
2137	c	OTS008	Otosclerosis 4	15
2138		RRS004	Rare Systemic Disease	15
2139		SPN345	Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	14
2140		SPN464	Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	14
2141	P	MYP124	Myopathy, Distal, Infantile-Onset	14
2142	P	LTH050	Lethal Chondrodysplasia	14
2143	c	CRD071	Cardiomyopathy, Dilated, 1q	14
2144	c	ELN001	Elane-Related Neutropenia	14
2145	c	ATS432	Autosomal Dominant Distal Myopathy	14
2146	c	ORF006	Orofaciodigital Syndrome 13	13
2147		CRN204	Craniofacial Conodysplasia	13
2148	c	ORF005	Orofaciodigital Syndrome 12	13
2149		DNN007	Duane Anomaly-Myopathy-Scoliosis Syndrome	13
2150	c	CHR698	Chronic Mast Cell Leukemia	13
2151		GLS016	Glossopalatine Ankylosis	13
2152	c	LMN001	Lmna-Related Dilated Cardiomyopathy	13
2153		NNT044	Neonatal Antiphospholipid Syndrome	13
2154	c	KLH005	Klhl9-Related Early-Onset Distal Myopathy	12
2155	c	DSR027	Disorders of Vitamin D Metabolism	12
2156		CLF020	Cleft Palate Stapes Fixation Oligodontia	12
2157		OST154	Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures	12
2158		SYM014	Symbrachydactyly of Hands and Feet	12
2159		THN011	Thin Ribs-Tubular Bones-Dysmorphism Syndrome	12
2160		OST144	Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	12
2161		NNT043	Neonatal Scleroderma	12
2162	c	LGB002	Leg, Absence Deformity of, with Congenital Cataract	12
2163	c	ADL034	Adult Extraosseous Osteosarcoma	12
2164		LYM153	Lymphoplasmacytic Inflammatory Pseudotumor of the Liver	12
2165		INV014	Inverse Klippel-Trenaunay Syndrome	11
2166	c	ATS431	Autosomal Recessive Distal Myopathy	11
2167		CNG283	Congenital Pseudoarthrosis of the Femur	11
2168		SYN002	Synchronous Multifocal Osteogenic Sarcoma	10
2169		CHL007	Childhood Extraosseous Osteosarcoma	10
2170		CNG566	Congenital Vascular Bone Syndrome	10
2171		IDP078	Idiopathic Phalangeal Acro-Osteolysis	9
2172	c	LRP007	Lrp5-Related Primary Osteoporosis	9
2173	c	THR126	Thrombophilia Due to Decreased Release of Plat	8
2174		EN1001	En1-Related Dorsoventral Syndrome	8
2175	c	MCR162	Macroglobulinemia, Waldenstrom 2	8
2176		LWR003	Lower Clivus Meningioma	8
2177		NNS054	Non-Syndromic Postaxial Polydactyly	8
2178	c	RRH022	Rare Hereditary Thrombophilia	8
2179		MLG006	Malignant Neoplasm of Short Bones of Lower Limb	8
2180		CHS003	Chest Wall Bone Cancer	8
2181		NNS055	Non-Syndromic Preaxial Polydactyly	7
2182	c	PST023	Posterior Foramen Magnum Meningioma	7
2183		CNG610	Congenital Hypoplasia of Thumb	7
2184		UPP001	Upper Clivus Meningioma	7
2185	c	CRN299	Craniosynostosis Syndrome, Autosomal Recessive	7
2186		LNG027	Long Bones of Lower Limb Cancer	7
2187		PRM320	Primary Bone Dysplasia with Micromelia	7
2188		CHR512	Cheirospondyloenchondromatosis	7
2189		SPN453	Spondyloepiphyseal Dysplasia Tarda with Intellectual Disability	7
2190		SMD014	Samd9l-Associated Autoinflammatory Syndrome	7
2191		UNS002	Unspecified Juvenile Idiopathic Arthritis	7
2192		DFF030	Diffuse Large B-Cell Lymphoma with Chronic Inflammation	6
2193		OKH001	Okihiro Syndrome Due to a Point Mutation	6
2194		ATS356	Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	6
2195	c	PLG011	Plg-Related Hereditary Angioedema with Normal C1inh	6
2196		OST013	Osteosarcoma Arising in Bone Paget's Disease	6
2197		ACQ052	Acquired Angioedema with C1inh Deficiency	6
2198		CHL041	Childhood Intracortical Osteosarcoma	6
2199		SLN010	Slender Bone Dysplasia	6
2200		MXD034	Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations	6
2201		F12001	F12-Associated Cold Autoinflammatory Syndrome	6
2202	c	GRW044	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2	6
2203	c	GRW043	Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1	6
2204		RDL025	Radial Deficiency-Tibial Hypoplasia Syndrome	5
2205		CHL001	Childhood Parosteal Osteogenic Sarcoma	5
2206	P	PRD043	Predominantly Small-Vessel Vasculitis	5
2207	c	CRD027	Cardiomyopathy Due to Anthracyclines	5
2208	c	OTS004	Otosclerosis, Familial	5
2209		NNS141	Non-Syndromic Unicoronal and Sagittal Craniosynostosis	5
2210		OVR117	Overgrowth Syndrome with 2q37 Translocation	5
2211		RDL019	Radio-Ulnar Synostosis, Unilateral	5
2212		SBD003	Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia	5
2213		PRD044	Predominantly Medium-Vessel Vasculitis	4
2214		SYN119	Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy	4
2215		PTL012	Patellar Dysostosis	4
2216	c	CRN093	Craniosynostosis Autosomal Dominant	4
2217		NNS060	Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy	3
2218		CHK001	Chikungunya	57
2219		ONY001	O'nyong'nyong Fever	19
2220	P	FML011	Familial Adenomatous Polyposis	74
2221	c	FML346	Familial Adenomatous Polyposis 1	66
2222		MYL031	Myeloproliferative Neoplasm	65
2223	P	LKM002	Leukemia	62
2224	c	FML347	Familial Adenomatous Polyposis 2	61
2225	c	ACT073	Acute Leukemia	58
2226		ARM004	Aromatase Excess Syndrome	55
2227		HRY003	Hairy Cell Leukemia	54
2228	c	CHR418	Chronic Leukemia	48
2229	P	THP004	Thiopurines, Poor Metabolism of, 1	46
2230	c	FML299	Familial Adenomatous Polyposis 3	39
2231	c	FML339	Familial Adenomatous Polyposis 4	30
2232	c	SBC006	Subacute Leukemia	26
2233	c	THP005	Thiopurines, Poor Metabolism of, 2	18
2234	P	BDY004	Body Mass Index Quantitative Trait Locus 11	80
2235		BHC003	Behcet Syndrome	74
2236	c	INF071	Inflammatory Bowel Disease 1	74
2237	P	SYS005	Systemic Scleroderma	73
2238		EWN003	Ewing Sarcoma	71
2239	P	LVR013	Liver Disease	71
2240		CNG510	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	70
2241	c	AMY087	Amyloidosis, Hereditary, Transthyretin-Related	68
2242		RBR002	Roberts-Sc Phocomelia Syndrome	66
2243		ACH004	Achondroplasia	66
2244		EHL052	Ehlers-Danlos Syndrome, Vascular Type	66
2245		BLS001	Blau Syndrome	66
2246		TKY002	Takayasu Arteritis	64
2247	P	EHL001	Ehlers-Danlos Syndrome	63
2248		PSR001	Psoriatic Arthritis	63
2249		LCR014	Lacrimoauriculodentodigital Syndrome	63
2250		WLL001	Williams-Beuren Syndrome	62
2251	P	BLD124	Bleeding Disorder, Platelet-Type, 11	62
2252		ENC044	Enchondromatosis, Multiple, Ollier Type	62
2253		HNC001	Henoch-Schoenlein Purpura	62
2254	c	LCL006	Localized Scleroderma	62
2255		AMY082	Amyloidosis, Familial Visceral	62
2256	c	THR001	Thrombocytopenia Due to Platelet Alloimmunization	61
2257		NLP001	Nail-Patella Syndrome	61
2258		CRN051	Craniofacial Microsomia	61
2259		INT324	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	61
2260	c	SCL052	Scleroderma, Familial Progressive	61
2261	P	DRM010	Dermatomyositis	60
2262		BRG013	Buerger Disease	60
2263		HYP706	Hypermobile Ehlers-Danlos Syndrome	60
2264	c	LYS021	Loeys-Dietz Syndrome 3	60
2265		LGG001	Legg-Calve-Perthes Disease	60
2266	c	ORF040	Orofaciodigital Syndrome Viii	60
2267	c	HYP293	Hypophosphatasia, Adult	59
2268	c	PRD039	Periodontitis, Aggressive, 1	59
2269	P	PGT001	Paget's Disease of Bone	59
2270		ULN003	Ulnar-Mammary Syndrome	59
2271	P	AGG001	Aggressive Periodontitis	59
2272	c	SPN330	Spondylocostal Dysostosis 5	58
2273	c	EXS019	Exostoses, Multiple, Type I	58
2274	P	MLG056	Malignant Hyperthermia	58
2275	P	ISL078	Isolated Ectopia Lentis	58
2276	c	RBN021	Rubinstein-Taybi Syndrome 1	58
2277	c	CTS045	Cutis Laxa, Autosomal Dominant 1	58
2278	P	PLY041	Polymyositis	58
2279	c	MCL046	Mucolipidosis Iii Alpha/beta	58
2280	P	CTS001	Cutis Laxa	57
2281	P	ADM011	Adams-Oliver Syndrome	57
2282	P	CPL014	Capillary Malformation-Arteriovenous Malformation 1	57
2283		GRN013	Greenberg Dysplasia	57
2284		LNG108	Langerhans Cell Histiocytosis	57
2285	c	ORF034	Orofaciodigital Syndrome Vi	57
2286		HYP074	Hypersensitivity Vasculitis	57
2287		3MC003	3mc Syndrome	57
2288	P	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	57
2289		PYG003	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne	57
2290		WYR002	Weyers Acrofacial Dysostosis	57
2291		LKC005	Leukocyte Adhesion Deficiency, Type Iii	56
2292		CNN011	Cenani-Lenz Syndactyly Syndrome	56
2293		KBG001	Kbg Syndrome	56
2294		CFF003	Caffey Disease	56
2295	P	CHN012	Chondrosarcoma	56
2296		AMY084	Amyloidosis, Finnish Type	56
2297		RCT015	Reactive Arthritis	56
2298	P	VTM026	Vitamin D Hydroxylation-Deficient Rickets, Type 1a	56
2299	c	NML003	Nemaline Myopathy 2	55
2300	c	ACT134	Acute Liver Failure	55
2301		INC018	Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia	55
2302	c	OST164	Osteoporosis, Juvenile	55
2303	c	OST121	Osteogenesis Imperfecta, Type Iv	55
2304		ERD001	Erdheim-Chester Disease	55
2305		ALV005	Alveolar Soft Part Sarcoma	55
2306		BRS002	Beare-Stevenson Cutis Gyrata Syndrome	55
2307	c	STN011	Sting-Associated Vasculopathy with Onset in Infancy	53
2308		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	53
2309		VSC058	Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome	53
2310	c	CTS033	Cutis Laxa, Autosomal Recessive, Type Ic	53
2311		CYS008	Cystic Echinococcosis	53
2312	P	STV010	Stuve-Wiedemann Syndrome 1	53
2313	P	TBH003	Teebi Hypertelorism Syndrome 1	53
2314		MLR003	Melorheostosis	53
2315	P	PRM051	Primary Pigmented Nodular Adrenocortical Disease	52
2316		JCK001	Jackson-Weiss Syndrome	52
2317	P	INF037	Inflammatory Bowel Disease	52
2318		NRM019	Neuraminidase Deficiency	52
2319	c	SPN310	Spondylocostal Dysostosis 1, Autosomal Recessive	52
2320		CNT056	Cantu Syndrome	51
2321	P	SMT022	Smith-Mccort Dysplasia 1	51
2322		BLS002	Blastomycosis	51
2323		LRN006	Laurin-Sandrow Syndrome	51
2324		ISC020	Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension	50
2325	c	BDY021	Body Mass Index Quantitative Trait Locus 20	50
2326		IGG007	Igg4-Related Disease	50
2327		THR009	Thrombocytopenia-Absent Radius Syndrome	50
2328		PLS016	Plasma Cell Leukemia	50
2329	c	PGT008	Paget Disease of Bone 5, Juvenile-Onset	50
2330		HND004	Hand-Foot-Genital Syndrome	50
2331	P	HRD001	Hereditary Multiple Exostoses	50
2332		LMT001	Limited Scleroderma	49
2333		SPN060	Spondylocarpotarsal Synostosis Syndrome	49
2334		SHP005	Shprintzen-Goldberg Craniosynostosis Syndrome	49
2335	c	VTM029	Vitamin D Hydroxylation-Deficient Rickets, Type 1b	49
2336	c	CTS029	Cutis Laxa, Autosomal Recessive, Type Iiia	49
2337		HYP596	Hypophosphatasia, Childhood	48
2338	c	NML004	Nemaline Myopathy 3	48
2339	c	BDY020	Body Mass Index Quantitative Trait Locus 19	48
2340	c	CTS038	Cutis Laxa, Autosomal Recessive, Type Iia	48
2341		SCH072	Scheuermann Disease	48
2342	c	ATS392	Autosomal Recessive Cutis Laxa Type Iii	48
2343	c	CTS037	Cutis Laxa, Autosomal Recessive, Type Ib	48
2344	c	ATS393	Autosomal Recessive Cutis Laxa Type I	47
2345	c	MLG147	Malignant Hyperthermia 1	47
2346	P	HYP776	Hyperparathyroidism, Neonatal Severe	47
2347		CRZ002	Crouzon Syndrome with Acanthosis Nigricans	47
2348	P	PLY148	Polydactyly, Preaxial Ii	46
2349	c	SPL067	Split-Hand/foot Malformation 1	46
2350	c	CTS030	Cutis Laxa, Autosomal Recessive, Type Ia	46
2351	c	INF145	Infantile Liver Failure Syndrome 1	46
2352		TBH001	Tibia, Hypoplasia or Aplasia of, with Polydactyly	46
2353	c	NML006	Nemaline Myopathy 5	46
2354	c	INF063	Inflammatory Bowel Disease 25, Autosomal Recessive	45
2355	c	JVN003	Juvenile Xanthogranuloma	45
2356	P	PRD037	Periodontal Ehlers-Danlos Syndrome	44
2357	c	BDY005	Body Mass Index Quantitative Trait Locus 9	43
2358		BMR001	Boomerang Dysplasia	43
2359	c	ACR126	Acromesomelic Dysplasia 2c	43
2360	c	CTS041	Cutis Laxa, Autosomal Dominant 3	43
2361		FBR002	Fibrosarcoma of Bone	43
2362		IVC001	Ivic Syndrome	43
2363	c	NML002	Nemaline Myopathy 1	43
2364	c	BDY019	Body Mass Index Quantitative Trait Locus 18	43
2365		SPN248	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	43
2366	c	BLD120	Bleeding Disorder, Platelet-Type, 8	43
2367		TRS002	Tarsal-Carpal Coalition Syndrome	42
2368		OST115	Osteonecrosis of the Jaw	42
2369	c	BLD126	Bleeding Disorder, Platelet-Type, 18	42
2370	c	ADM005	Adams-Oliver Syndrome 1	42
2371	c	BDY010	Body Mass Index Quantitative Trait Locus 4	42
2372	c	BDY017	Body Mass Index Quantitative Trait Locus 14	41
2373		ORB012	Orbital Cancer	41
2374		DPH019	Diaphanospondylodysostosis	41
2375	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41
2376	c	BDY015	Body Mass Index Quantitative Trait Locus 12	41
2377	c	LVR030	Liver Failure, Infantile, Transient	41
2378	c	BDY011	Body Mass Index Quantitative Trait Locus 10	41
2379	c	CTS032	Cutis Laxa, Autosomal Recessive, Type Iiib	40
2380	c	ECT098	Ectopia Lentis 1, Isolated, Autosomal Dominant	40
2381	c	ACQ012	Acquired Angioedema	40
2382	c	EHL084	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	40
2383		MLT016	Multicentric Reticulohistiocytosis	40
2384		AKL001	Au-Kline Syndrome	40
2385	c	ECT101	Ectopia Lentis 2, Isolated, Autosomal Recessive	40
2386	c	CTS043	Cutis Laxa, Autosomal Recessive, Type Iid	39
2387		BRC120	Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes	39
2388	c	NML022	Nemaline Myopathy 10	39
2389	c	NML005	Nemaline Myopathy 4	39
2390	c	BDY006	Body Mass Index Quantitative Trait Locus 8	39
2391	c	BDY012	Body Mass Index Quantitative Trait Locus 7	39
2392		VLP002	Valproate Embryopathy	39
2393	P	STN012	Sting-Associated Vasculopathy, Infantile-Onset	39
2394	P	BLN001	Blount's Disease	39
2395	c	NML010	Nemaline Myopathy 7	39
2396	c	ORF043	Orofaciodigital Syndrome Ix	39
2397		DYS045	Dysosteosclerosis	38
2398		SLT016	Solitary Fibrous Tumor/hemangiopericytoma	38
2399	c	ATS282	Autosomal Recessive Malignant Osteopetrosis	38
2400	c	BLD157	Bleeding Disorder, Platelet-Type, 9	38
2401		APL032	Apolipoprotein a-Iv Associated Amyloidosis	38
2402		ESN015	Eosinophilic Fasciitis	37
2403		ATM086	Autoimmune Interstitial Lung, Joint, and Kidney Disease	37
2404	c	BLD152	Bleeding Disorder, Platelet-Type, 16	37
2405		MLT178	Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	37
2406	c	NML024	Nemaline Myopathy 11, Autosomal Recessive	37
2407	c	HMN021	Human T-Cell Leukemia Virus Type 1	37
2408		HYP636	Hypocalcemic Vitamin D-Dependent Rickets	37
2409	c	CPL015	Capillary Malformation-Arteriovenous Malformation 2	36
2410		LKN024	Leukoencephalopathy, Brain Calcifications, and Cysts	36
2411		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	36
2412		CMP067	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	36
2413		OSB001	Osebold-Remondini Syndrome	36
2414	c	BLD125	Bleeding Disorder, Platelet-Type, 17	36
2415	c	ATP003	Atp6v0a2-Related Cutis Laxa	35
2416	c	INF076	Inflammatory Bowel Disease 18	35
2417	c	CTS031	Cutis Laxa, Autosomal Dominant 2	35
2418	c	INF170	Inflammatory Bowel Disease 29	35
2419	c	EHL072	Ehlers-Danlos Syndrome, Periodontal Type, 2	35
2420	P	EXT032	Extraosseous Osteosarcoma	35
2421		SPN450	Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis	35
2422	c	NML021	Nemaline Myopathy 9	35
2423	c	ADM007	Adams-Oliver Syndrome 2	35
2424	c	BDY007	Body Mass Index Quantitative Trait Locus 1	35
2425	c	RNG029	Ring Chromosome 14 Syndrome	34
2426	c	ADL027	Adult Dermatomyositis	34
2427	c	BLD156	Bleeding Disorder, Platelet-Type, 14	34
2428		ANC002	Anca-Associated Vasculitis	34
2429		ANR009	Aneurysmal Bone Cysts	34
2430		TRN030	Transient Erythroblastopenia of Childhood	34
2431		THR088	Thrombophilia Due to Protein S Deficiency, Autosomal Recessive	34
2432	P	OTP008	Otopalatodigital Syndrome Spectrum Disorder	34
2433	c	BNM015	Bone Mineral Density Quantitative Trait Locus 18	34
2434		CYS041	Cystic Angiomatosis of Bone, Diffuse	34
2435	c	ADM010	Adams-Oliver Syndrome 5	34
2436		PSR016	Psoriatic Juvenile Idiopathic Arthritis	34
2437		ADM013	Adamantinoma of Long Bones	34
2438	c	INF093	Inflammatory Bowel Disease 14	34
2439	c	NML007	Nemaline Myopathy 6	34
2440	c	RNG008	Ring Chromosome 13	33
2441	c	RNG023	Ring Chromosome 7	33
2442	c	BLD133	Bleeding Disorder, Platelet-Type, 20	33
2443		PRS029	Periosteal Osteogenic Sarcoma	33
2444		AML066	Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome	33
2445	c	INF088	Inflammatory Bowel Disease 5	32
2446	c	RNG018	Ring Chromosome 22	32
2447	c	INF161	Inflammatory Bowel Disease 28	32
2448		MLG014	Malignant Fibrous Histiocytoma of Bone	32
2449	c	SVR040	Severe Congenital Nemaline Myopathy	32
2450	c	INF194	Infantile Liver Failure Syndrome	32
2451	P	LKM005	Leukemia, T-Cell, Chronic	32
2452	c	CTS048	Cutis Laxa, Autosomal Recessive, Type Iie	32
2453		SHX002	Shox-Related Short Stature	31
2454		MTC100	Metacarpal 4-5 Fusion	31
2455	c	INF138	Infantile Liver Failure Syndrome 2	31
2456		ALG027	Al-Gazali-Bakalinova Syndrome	31
2457	c	RNG017	Ring Chromosome 21	31
2458		CHN003	Chondroblastic Osteosarcoma	31
2459	c	RNG004	Ring Chromosome 1	31
2460		SHR124	Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures	31
2461	c	MLG151	Malignant Hyperthermia 5	31
2462		CSN001	Cousin Syndrome	30
2463	c	INF086	Inflammatory Bowel Disease 3	30
2464	c	INF064	Inflammatory Bowel Disease 28, Autosomal Recessive	30
2465		MYP149	Myopathy, Mitochondrial, and Ataxia	30
2466	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	30
2467		EXT059	External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus	30
2468		THR021	Thrombophilia Due to Hrg Deficiency	30
2469	c	INF160	Inflammatory Bowel Disease 17	30
2470		MXL017	Maxillary Cancer	30
2471	c	RNG007	Ring Chromosome 12	30
2472		IDP085	Idiopathic Infantile Hypercalcemia	29
2473		TLN002	Telangiectatic Osteogenic Sarcoma	29
2474	c	RNG022	Ring Chromosome 6	29
2475	c	INF077	Inflammatory Bowel Disease 19	29
2476		STP011	Stapes Ankylosis with Broad Thumbs and Toes	29
2477		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	29
2478		RHZ019	Rhizomelic Skeletal Dysplasia with or Without Pelger-Huet Anomaly	29
2479		CRN272	Craniometadiaphyseal Dysplasia	29
2480	c	RNG024	Ring Chromosome 8	29
2481	c	RNG005	Ring Chromosome 10	28
2482	c	RNG020	Ring Chromosome 4	28
2483	c	PGM021	Pigmented Nodular Adrenocortical Disease, Primary, 1	28
2484		MCR326	Microcephaly-Micromelia Syndrome	28
2485		SPN445	Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	28
2486		FLR003	Florid Cemento-Osseous Dysplasia	28
2487		SPN328	Spondyloepiphyseal Dysplasia, Stanescu Type	28
2488	c	BLD154	Bleeding Disorder, Platelet-Type, 12	28
2489	c	INT274	Intermediate Congenital Nemaline Myopathy	28
2490	c	INF089	Inflammatory Bowel Disease 6	28
2491		RMN002	Ramon Syndrome	28
2492	P	VRT017	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3	28
2493		MLR023	Melorheostosis, Isolated	28
2494	c	VRT014	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1	28
2495	c	ADM009	Adams-Oliver Syndrome 4	28
2496		DGT005	Digital Arthropathy-Brachydactyly, Familial	27
2497	c	INF075	Inflammatory Bowel Disease 16	27
2498		ASS004	Aase-Smith Syndrome I	27
2499	c	INF072	Inflammatory Bowel Disease 11	27
2500		KYP002	Kyphomelic Dysplasia	27
2501		FMR017	Femur, Unilateral Bifid, with Monodactylous Ectrodactyly	27
2502	c	PGM011	Pigmented Nodular Adrenocortical Disease, Primary, 2	27
2503		PRT043	Parietal Foramina with Cleidocranial Dysplasia	27
2504	c	MLG148	Malignant Hyperthermia 2	27
2505		SPL054	Splenogonadal Fusion with Limb Defects and Micrognathia	27
2506	c	ADM012	Adams-Oliver Syndrome 6	26
2507	c	INF193	Inflammatory Bowel Disease 30	26
2508		CRN268	Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis	26
2509	c	ORF042	Orofaciodigital Syndrome Xi	26
2510		IGG011	Igg4-Related Kidney Disease	26
2511	c	RNG013	Ring Chromosome 18	26
2512	c	CTS044	Cutis Laxa, Autosomal Recessive, Type Iic	26
2513	c	INF078	Inflammatory Bowel Disease 2	26
2514	c	LVR033	Liver Disease, Severe Congenital	26
2515		MLR010	Melorheostosis with Osteopoikilosis	26
2516		PTR001	Petrositis	26
2517		FCL041	Focal Myositis	26
2518		TMP008	Tempi Syndrome	26
2519	c	BLD132	Bleeding Disorder, Platelet-Type, 21	25
2520	c	INF190	Infantile Liver Failure Syndrome 3	25
2521	c	PGM022	Pigmented Nodular Adrenocortical Disease, Primary, 4	25
2522		TBS009	Teebi-Shaltout Syndrome	25
2523	c	BLD121	Bleeding Disorder, Platelet-Type, 15	25
2524	c	INF082	Inflammatory Bowel Disease 23	25
2525		TFR002	Tafro Syndrome	25
2526		ACR020	Acropectorovertebral Dysplasia	25
2527	c	RNG016	Ring Chromosome 20	25
2528	c	RNG010	Ring Chromosome 15	25
2529	c	BLD123	Bleeding Disorder, Platelet-Type, 13	25
2530	c	INF067	Inflammatory Bowel Disease 10	25
2531		OST117	Osteomesopyknosis	25
2532	c	BLD174	Bleeding Disorder, Platelet-Type, 24	25
2533		SPL059	Split-Foot Malformation with Mesoaxial Polydactyly	25
2534		MND001	Mandibular Cancer	25
2535	c	ADL068	Adult-Onset Nemaline Myopathy	25
2536	c	TBH004	Teebi Hypertelorism Syndrome 2	25
2537		SPN433	Spondyloepiphyseal Dysplasia, Kondo-Fu Type	25
2538	c	BLD127	Bleeding Disorder, Platelet-Type, 19	24
2539	c	ADM008	Adams-Oliver Syndrome 3	24
2540		FBR013	Fibrosarcomatous Osteosarcoma	24
2541	c	INF083	Inflammatory Bowel Disease 24	24
2542	P	RNG032	Ring Chromosome	24
2543	c	INF092	Inflammatory Bowel Disease 9	24
2544		ANG066	Angel-Shaped Phalangoepiphyseal Dysplasia	24
2545	P	MLT017	Multifocal Osteogenic Sarcoma	24
2546		THM023	Thiemann Disease	24
2547		SPL057	Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects	24
2548	c	RNG006	Ring Chromosome 11	24
2549	c	MTC204	Mitochondrial Dna Depletion Syndrome 18	24
2550		LWR016	Lowry-Maclean Syndrome	24
2551	c	INF074	Inflammatory Bowel Disease 15	24
2552	P	ADL037	Adult Xanthogranuloma	24
2553		CRN082	Craniofacial Dysostosis with Diaphyseal Hyperplasia	24
2554		GRR002	Gurrieri Syndrome	23
2555	c	MLG149	Malignant Hyperthermia 3	23
2556	c	VRT015	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2	23
2557		BRN123	Branchial Arch Syndrome, X-Linked	23
2558	c	INF079	Inflammatory Bowel Disease 20	23
2559	c	RNG019	Ring Chromosome 3	23
2560		ACR019	Acropectoral Syndrome	23
2561	c	RNG025	Ring Chromosome 9	23
2562		NCR009	Necrobiotic Xanthogranuloma	23
2563		JWC001	Jaw Cancer	23
2564	c	RNG021	Ring Chromosome 5	23
2565		GRN016	Grant Syndrome	23
2566	c	INF068	Inflammatory Bowel Disease 13	23
2567	c	MNS019	Monosomy 7 Myelodysplasia and Leukemia Syndrome 2	23
2568	c	INF195	Inflammatory Bowel Disease 31, Autosomal Recessive	23
2569	c	INF162	Inflammatory Bowel Disease 25	23
2570	c	INF073	Inflammatory Bowel Disease 12	22
2571	c	RNG012	Ring Chromosome 17	22
2572		MYP166	Myopathy, Myofibrillar, 12, Infantile-Onset, with Cardiomyopathy	22
2573		ACR079	Acrodysostosis with Multiple Hormone Resistance	22
2574	c	CMP071	Camptodactyly Syndrome, Guadalajara, Type Ii	22
2575	c	INF085	Inflammatory Bowel Disease 27	21
2576	c	STV011	Stuve-Wiedemann Syndrome 2	21
2577	c	MLG150	Malignant Hyperthermia 4	21
2578		TRP024	Triphalangeal Thumbs with Brachyectrodactyly	21
2579	c	INF087	Inflammatory Bowel Disease 4	21
2580	c	INF090	Inflammatory Bowel Disease 7	21
2581		ANK015	Ankylosing Vertebral Hyperostosis with Tylosis	20
2582		OSL001	Oslam Syndrome	20
2583	c	INF080	Inflammatory Bowel Disease 21	20
2584	c	RNG011	Ring Chromosome 16	20
2585	c	RNG014	Ring Chromosome 19	20
2586		UPN001	Upington Disease	20
2587	P	RBN007	Rubinstein Taybi Like Syndrome	20
2588		KNS006	Kniest-Like Dysplasia, Lethal	20
2589	c	LTB003	Ltbp4-Related Cutis Laxa	20
2590		CHR363	Chromosome 17q23.1-Q23.2 Duplication Syndrome	20
2591		XLN086	X-Linked Ehlers-Danlos Syndrome	19
2592		BND017	Bone Dysplasia, Lethal, Holmgren Type	19
2593		MSM018	Mesomelic Limb Shortening and Bowing	19
2594	c	ACQ027	Acquired Cutis Laxa	19
2595		SKL031	Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	19
2596	c	MLG152	Malignant Hyperthermia 6	19
2597		PRM334	Primary Bone Dysplasia with Increased Bone Density	19
2598		BWN005	Bowing of Long Bones Congenital	18
2599	c	INF081	Inflammatory Bowel Disease 22	18
2600	c	FBL003	Fbln5-Related Cutis Laxa	18
2601	c	RNG031	Ring Chromosome Y Syndrome	18
2602		AFB003	Afib Amyloidosis	18
2603		PHC009	Phocomelia Ectrodactyly Deafness Sinus Arrhythmia	18
2604	c	HMN022	Human T-Cell Leukemia Virus Type 2	18
2605		LRS009	Larsen-Like Syndrome, Lethal Type	18
2606		BRC095	Brachydactyly, Mononen Type	18
2607	c	MXD051	Mixed Cryoglobulinemia Type Ii	18
2608		ULN021	Ulnar Hypoplasia with Lobster-Claw Deformity of Feet	18
2609	c	BLD168	Bleeding Disorder, Platelet-Type, 22	18
2610		TLP002	Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals	17
2611	c	INF084	Inflammatory Bowel Disease 26	17
2612		OST058	Osteopoikilosis and Dacryocystitis	17
2613	c	INF091	Inflammatory Bowel Disease 8	17
2614		BLL018	Bullous Pyoderma Gangrenosum	17
2615		AST010	Astley-Kendall Syndrome	17
2616		PYD004	Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome	16
2617	c	PGM012	Pigmented Nodular Adrenocortical Disease, Primary, 3	16
2618		BNK001	Banki Syndrome	16
2619		BNN002	Bone Angioendothelial Sarcoma	16
2620		PHL009	Phalangeal Microgeodic Syndrome	15
2621		BCL019	B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome	15
2622		VGT002	Vegetative Pyoderma Gangrenosum	15
2623		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	15
2624		THM018	Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	15
2625	c	CNG579	Congenital Nemaline Myopathy	15
2626		IMM206	Immune Complex Mediated Vasculitis	14
2627		OSS015	Ossification Anomalies-Psychomotor Developmental Delay Syndrome	14
2628		ATS292	Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	14
2629	c	PRM222	Primary Polyarteritis Nodosa	14
2630	c	ELN002	Eln-Related Cutis Laxa	14
2631	c	EFM001	Efemp2-Related Cutis Laxa	14
2632		OST114	Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	13
2633		SCN050	Secondary Non-Traumatic Avascular Necrosis	13
2634		NNT046	Neonatal Dermatomyositis	13
2635		PST107	Pustular Pyoderma Gangrenosum	13
2636		FRN052	Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	12
2637		ANK018	Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	12
2638		CLC050	Calciphylaxis Cutis	11
2639		PYR042	Pyramidal Molars-Abnormal Upper Lip Syndrome	11
2640	c	BDY009	Body Mass Index Quantitative Trait Locus 3	11
2641		RRR002	Rare Rheumatologic Disease	10
2642	c	RRN022	Rare Inflammatory Bowel Disease	10
2643	c	BDY016	Body Mass Index Quantitative Trait Locus 13	9
2644		MDS009	Mediastinal Osteogenic Sarcoma	9
2645	c	BDY018	Body Mass Index Quantitative Trait Locus 15	8
2646	c	BDY008	Body Mass Index Quantitative Trait Locus 2	8
2647	c	BDY013	Body Mass Index Quantitative Trait Locus 5	8
2648		ORL028	Oral-Facial-Digital Syndrome with Short Stature and Brachymesophalangy	8
2649	c	PRD018	Periodontitis, Aggressive, 2	8
2650		MCP029	Mucopolysaccharidosis Type 6, Rapidly Progressing	8
2651		MCP028	Mucopolysaccharidosis Type 6, Slowly Progressing	8
2652	c	BDY014	Body Mass Index Quantitative Trait Locus 6	8
2653	c	ATS003	Autosomal Recessive Type Iv Ehlers-Danlos Syndrome	7
2654		FML194	Familial Clubfoot with or Without Associated Lower Limb Anomalies	6
2655	c	ASY003	Asynchronous Multifocal Osteogenic Sarcoma	5
2656	c	HMN023	Human T-Cell Leukemia Virus Type 3	5
2657		NNT057	Neonatal Osteosclerotic Dysplasia	5
2658	c	TRM030	Trim22-Related Inflammatory Bowel Disease	5
2659	c	RRD027	Rare Disease with Malignant Hyperthermia	5
2660		OVR126	Overgrowth or Tall Stature Syndrome with Skeletal Involvement	4
2661