Search results for chondrodysplasia

539 hits were found for chondrodysplasia

#	Family	MCID	Name	MIFTS	Score
1	P	CHN044	Chondrodysplasia Punctata Syndrome	43	6.335

2	c	RHZ011	Rhizomelic Chondrodysplasia Punctata, Type 1	49	5.788

3	c	RHZ014	Rhizomelic Chondrodysplasia Punctata, Type 2	47	5.560

4	c	CHN028	Chondrodysplasia Punctata 1, X-Linked Recessive	28	5.549

5		MTP034	Metaphyseal Chondrodysplasia, Jansen Type	49	5.348

6	P	RHZ001	Rhizomelic Chondrodysplasia Punctata	49	5.331

7		CHN054	Chondrodysplasia, Blomstrand Type	45	5.322

8	c	CHN074	Chondrodysplasia Punctata 2, X-Linked Dominant	43	4.782

9	c	RHZ004	Rhizomelic Chondrodysplasia Punctata, Type 3	39	4.776

10		MTP025	Metaphyseal Chondrodysplasia, Schmid Type	44	4.556

11		CHN057	Chondrodysplasia, Grebe Type	36	4.506

12		CRT002	Cartilage-Hair Hypoplasia	58	4.337

13		MTP028	Metaphyseal Dysplasia, Spahr Type	28	4.295

14	c	RHZ015	Rhizomelic Chondrodysplasia Punctata, Type 5	38	3.840

15	c	OTS014	Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	44	3.748

16	c	CHN017	Chondrodysplasia Punctata 1, X-Linked	14	3.569

17		CHN045	Chondrodysplasia with Joint Dislocations, Gpapp Type	21	3.494

18		CHN075	Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	19	3.358

19	c	CHN018	Chondrodysplasia Punctata 2, X-Linked	25	3.275

20		OST062	Osteoarthritis with Mild Chondrodysplasia	43	3.259

21		CHN050	Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia	24	3.226

22	c	CHN071	Chondrodysplasia Punctata, Autosomal Dominant	17	3.217

23	c	ATL011	Atelosteogenesis, Type I	37	3.207

24		CHN064	Chondrodysplasia-Pseudohermaphroditism Syndrome	21	3.197

25		SPN209	Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations	55	3.175

26	P	XLN161	X-Linked Chondrodysplasia Punctata	29	2.978

27		SPN362	Spondylometaphyseal Dysplasia, Sedaghatian Type	33	2.879

28		LKN009	Leukoencephalopathy with Metaphyseal Chondrodysplasia	17	2.879

29		EPP011	Epiphyseal Chondrodysplasia, Miura Type	19	2.857

30		TRC060	Trichoscyphodysplasia	10	2.831

31		CHN067	Chondrodysplasia Punctata, Tibia-Metacarpal Type	18	2.557

32		CHN026	Chondrodysplasia Calcificans Metaphysealis	11	2.496

33		ACR096	Acromesomelic Dysplasia, Demirhan Type	20	2.484

34		SCH030	Schneckenbecken Dysplasia	32	2.471

35		SPN152	Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta	25	2.471

36	c	OTS013	Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	44	2.456

37		RTN194	Retinitis Pigmentosa with or Without Skeletal Anomalies	20	2.456

38		MTP007	Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands	6	2.056

39		LTH005	Lethal Chondrodysplasia Moerman Type	17	2.043

40		MTP017	Metaphyseal Chondrodysplasia, Kaitila Type	14	2.043

41		CHN066	Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density	14	2.043

42		CHN027	Chondrodysplasia Lethal Recessive	15	2.028

43	P	OTS002	Otospondylomegaepiphyseal Dysplasia	45	2.011

44		ART116	Arthropathy, Progressive Pseudorheumatoid, of Childhood	40	1.991

45		SPN415	Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	21	1.991

46		CHN032	Chondrodysplasia Punctata, Humero-Metacarpal Type	3	1.486

47		LTH006	Lethal Chondrodysplasia Seller Type	3	1.486

48		MTP035	Metaphyseal Chondrodysplasia, Pena Type	7	1.471

49		CHN033	Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly	3	1.471

50		CHN030	Chondrodysplasia Punctata Sheffield Type	3	1.471

51		MTP008	Metaphyseal Chondrodysplasia, Others	2	1.471

52		SHW002	Shwachman-Diamond Syndrome	63	1.454

53		MLT145	Multiple Enchondromatosis, Maffucci Type	51	1.454

54		ACR009	Acromesomelic Dysplasia, Hunter-Thompson Type	34	1.454

55		OST165	Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions	4	1.454

56		CHN024	Chondrodysplasia Acromesomelic with Genital Anomalies	3	1.454

57		CHN031	Chondrodysplasia Punctata with Steroid Sulfatase Deficiency	2	1.454

58		PLT026	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	28	1.434

59		SPN361	Spondylometaphyseal Dysplasia, Algerian Type	22	1.434

60		SHR075	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly	42	1.408

61		BND017	Bone Dysplasia, Lethal, Holmgren Type	21	1.408

62		ULN007	Ulna Metaphyseal Dysplasia Syndrome	18	1.408

63		FRS005	Fraser Jequier Chen Syndrome	5	1.408

64		OST015	Osteochondrodysplasia	54	0.140

65	P	CRV039	Cervicitis	49	0.125

66	c	BLD140	Blood Group, I System	37	0.125

67		DWR001	Dwarfism	48	0.121

68	P	ART153	Arthrochalasia Ehlers-Danlos Syndrome	21	0.121

69	P	CTR002	Cataract	60	0.117

70	P	ANR048	Aniridia 1	68	0.113

71	P	ICH004	Ichthyosis	54	0.113

72		ALR002	Al-Raqad Syndrome	30	0.113

73		ANR038	Anorexia Nervosa 1	21	0.113

74		BLD137	Blood Group--Ahonen	17	0.113

75	P	ZLL001	Zellweger Syndrome	56	0.109

76		PRX034	Peroxisome Disorders	20	0.109

77		OST012	Osteoarthritis	88	0.094

78	P	BRC006	Brachydactyly	57	0.094

79		HPT082	Hepatic Adenomas, Familial	52	0.094

80		RFS006	Refsum Disease, Classic	63	0.089

81	P	THR117	Three M Syndrome 1	52	0.089

82	P	LPS004	Lupus Erythematosus	69	0.083

83		SKL017	Skeletal Dysplasias	48	0.083

84		PRX077	Peroxisomal Biogenesis Disorders	40	0.083

85		PRX001	Peroxisomal Disease	34	0.083

86	c	PRX045	Peroxisome Biogenesis Disorder 1b	57	0.077

87		SCH068	Schwartz-Jampel Syndrome, Type 1	54	0.077

88		NNT017	Neonatal Adrenoleukodystrophy	52	0.077

89		MLB001	Mulibrey Nanism	46	0.077

90		ATX031	Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus	40	0.077

91		ALP041	Alopecia, Neurologic Defects, and Endocrinopathy Syndrome	37	0.077

92	c	SYS001	Systemic Lupus Erythematosus	86	0.070

93	P	HPT021	Hepatitis	75	0.070

94		ACH004	Achondroplasia	67	0.070

95		BRT054	Brittle Bone Disorder	67	0.070

96		RCK004	Rickets	63	0.070

97		DST005	Diastrophic Dysplasia	54	0.070

98		SPS057	Spasticity	41	0.070

99		GRN013	Greenberg Dysplasia	36	0.070

100		ALP046	Alport Syndrome, X-Linked	74	0.063

101		ADR007	Adrenoleukodystrophy	72	0.063

102	P	RSP003	Respiratory Failure	71	0.063

103		SMT004	Smith-Lemli-Opitz Syndrome	70	0.063

104	P	KLL001	Kallmann Syndrome	63	0.063

105		ALP042	Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity	63	0.063

106		ICH054	Ichthyosis, X-Linked	59	0.063

107		NRN002	Neuronitis	43	0.063

108		EPD022	Epidermolysis Bullosa Pruriginosa	38	0.063

109		EPC005	Epicanthus	35	0.063

110		NNT004	Neonatal Respiratory Failure	33	0.063

111		CNG065	Congenital Contractures	27	0.063

112	c	PRX050	Peroxisome Biogenesis Disorder 9b	22	0.063

113	P	RHM011	Rheumatoid Arthritis	91	0.054

114	P	ART022	Arthritis	77	0.054

115	P	TRN020	Turner Syndrome	69	0.054

116		ATM095	Autoimmune Disease	66	0.054

117		MXD005	Mixed Connective Tissue Disease	66	0.054

118		CNN005	Connective Tissue Disease	65	0.054

119	P	PNC044	Pancreatitis	64	0.054

120		SPN008	Spondyloepiphyseal Dysplasia Congenita	60	0.054

121		DBF001	D-Bifunctional Protein Deficiency	57	0.054

122	P	PLY006	Polydactyly	57	0.054

123	P	HYP726	Hypercalcemia, Infantile, 1	57	0.054

124	P	HYP024	Hypoparathyroidism	55	0.054

125		MLT135	Multiple Sulfatase Deficiency	54	0.054

126		KNS001	Kniest Dysplasia	53	0.054

127		RTN023	Retinitis	52	0.054

128	P	FNC043	Fanconi Anemia, Complementation Group E	52	0.054

129	P	OCL001	Ocular Albinism	46	0.054

130	c	ACH033	Achondrogenesis, Type Ia	46	0.054

131		CRB009	Cerebritis	41	0.054

132		LTH045	Lutheran Suppressor, X-Linked	41	0.054

133	c	HYP793	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	40	0.054

134	c	DSB006	Desbuquois Dysplasia 1	39	0.054

135		VTM001	Vitamin K Deficiency Hemorrhagic Disease	35	0.054

136	c	PRX060	Peroxisome Biogenesis Disorder 5a	29	0.054

137		AST010	Astley-Kendall Syndrome	15	0.054

138		INS024	Insulin-Like Growth Factor I	83	0.044

139	P	HRT032	Heart Disease	80	0.044

140	P	MTC003	Metachromatic Leukodystrophy	72	0.044

141	c	JVN010	Juvenile Rheumatoid Arthritis	71	0.044

142	P	TTR001	Tetralogy of Fallot	70	0.044

143	P	DYS007	Dyskeratosis Congenita	68	0.044

144		AGN016	Aging	65	0.044

145	P	NRP001	Neuropathy	63	0.044

146		MCR013	Microphthalmia	61	0.044

147	P	DYS154	Dystonia	61	0.044

148		SPN027	Spinal Stenosis	60	0.044

149	c	PRM005	Primary Hyperparathyroidism	59	0.044

150	c	OST080	Osteogenesis Imperfecta, Type Ii	59	0.044

151	P	MLT007	Multiple Epiphyseal Dysplasia	57	0.044

152		INC021	Incontinentia Pigmenti	57	0.044

153	P	SCL018	Scoliosis	56	0.044

154	P	ALP008	Alopecia	56	0.044

155		ENC044	Enchondromatosis, Multiple, Ollier Type	54	0.044

156		ACR011	Acromesomelic Dysplasia, Maroteaux Type	54	0.044

157	c	ACH041	Achondrogenesis, Type Ii	53	0.044

158		ALC028	Alacrima, Achalasia, and Mental Retardation Syndrome	53	0.044

159		ACR013	Acrodysostosis	53	0.044

160	P	PTT014	Pitt-Hopkins Syndrome	52	0.044

161	c	PSD066	Pseudohypoparathyroidism, Type Ib	52	0.044

162		PRX028	Peroxisomal Acyl-Coa Oxidase Deficiency	52	0.044

163		OST016	Osteochondrosis	52	0.044

164		HYP535	Hypogonadotropic Hypogonadism 7 with or Without Anosmia	51	0.044

165	P	PSD015	Pseudohypoparathyroidism	50	0.044

166		CNG184	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	50	0.044

167	P	FBR025	Fibrochondrogenesis	50	0.044

168		PYL017	Pyle Disease	49	0.044

169		RNL078	Renal Dysplasia	49	0.044

170		STS002	Situs Inversus	48	0.044

171		DYS018	Dysostosis	48	0.044

172	P	ICH001	Ichthyosis Vulgaris	47	0.044

173		EXS001	Exostosis	46	0.044

174	c	ACH042	Achondrogenesis, Type Ib	46	0.044

175		ALB002	Albinism	45	0.044

176		HYP017	Hypophosphatemia	45	0.044

177	P	ACH011	Achondrogenesis	44	0.044

178	P	OPT070	Optic Nerve Hypoplasia, Bilateral	42	0.044

179	c	PRX059	Peroxisome Biogenesis Disorder 1a	41	0.044

180		FBL002	Fibular Hypoplasia and Complex Brachydactyly	40	0.044

181	P	BLN001	Blount's Disease	39	0.044

182		MXL016	Maxillonasal Dysplasia, Binder Type	39	0.044

183	c	BRC081	Brachydactyly, Type C	38	0.044

184		SHR064	Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	37	0.044

185		SLP010	Slipped Capital Femoral Epiphysis	37	0.044

186		SPN331	Spondyloocular Syndrome	34	0.044

187		ACR016	Acromesomelic Dysplasia	33	0.044

188		ACH043	Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans	32	0.044

189		WRF003	Warfarin Syndrome	31	0.044

190		ATM052	Autoimmune Disease 1	30	0.044

191	P	CXV002	Coxa Vara	30	0.044

192	c	PRX063	Peroxisome Biogenesis Disorder 2a	29	0.044

193		KYP002	Kyphomelic Dysplasia	27	0.044

194	c	PRX054	Peroxisome Biogenesis Disorder 12a	26	0.044

195	c	PRX055	Peroxisome Biogenesis Disorder 11a	25	0.044

196	c	PRX065	Peroxisome Biogenesis Disorder 3a	25	0.044

197	c	PRX091	Peroxisome Biogenesis Disorder 8a	24	0.044

198	c	PRX057	Peroxisome Biogenesis Disorder 4a	24	0.044

199	c	PRX048	Peroxisome Biogenesis Disorder 10a	24	0.044

200	c	PRX046	Peroxisome Biogenesis Disorder 7a	24	0.044

201	c	PRX052	Peroxisome Biogenesis Disorder 13a	23	0.044

202		OSB001	Osebold-Remondini Syndrome	23	0.044

203	c	PRX051	Peroxisome Biogenesis Disorder 6a	22	0.044

204		MSL005	Mseleni Joint Disease	22	0.044

205		PRX072	Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	22	0.044

206		SHR096	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	20	0.044

207		MSM003	Mesomelia	15	0.044

208		CHR459	Chromosome Xp Deletion	11	0.044

209	P	PNC035	Pancreatic Cancer	89	0.031

210		AST005	Asthma	83	0.031

211	P	RTN008	Retinitis Pigmentosa	81	0.031

212	P	BLD134	Bladder Cancer	78	0.031

213	P	OST002	Osteoporosis	75	0.031

214		BDY004	Body Mass Index Quantitative Trait Locus 11	75	0.031

215		ISC006	Ischemic Heart Disease	73	0.031

216	P	FML018	Familial Mediterranean Fever	73	0.031

217	P	DBT009	Diabetes Mellitus	72	0.031

218		NRF026	Neurofibromatosis, Type Iv, of Riccardi	72	0.031

219		WLS001	Wilson Disease	72	0.031

220	c	SPN225	Spondyloarthropathy 1	71	0.031

221	c	HMC039	Hemochromatosis, Type 1	71	0.031

222	P	MNN013	Meningitis	71	0.031

223	P	PNM007	Pneumonia	70	0.031

224		DWN001	Down Syndrome	70	0.031

225		ART016	Aortic Aneurysm	70	0.031

226		ACR007	Acromegaly	70	0.031

227	P	OST001	Osteopetrosis	70	0.031

228	P	MYP004	Myopathy	69	0.031

229		DMN002	Dementia	68	0.031

230	c	HRD010	Hereditary Spastic Paraplegia	68	0.031

231	P	HYD006	Hydrocephalus	68	0.031

232		SKN016	Skin Disease	68	0.031

233	P	ART023	Arthropathy	68	0.031

234		PNC041	Pancreatic Ductal Adenocarcinoma	67	0.031

235	P	PRP003	Porphyria Cutanea Tarda	67	0.031

236		DRM006	Dermatitis	67	0.031

237		NVS017	Nevus, Epidermal	66	0.031

238	P	THN009	Thanatophoric Dysplasia, Type I	66	0.031

239		PSR001	Psoriatic Arthritis	66	0.031

240	P	PSR002	Psoriasis	65	0.031

241		NRF007	Neurofibroma	65	0.031

242		SYS004	Systemic Mastocytosis	65	0.031

243		TTN003	Tetanus	65	0.031

244		RCT015	Reactive Arthritis	65	0.031

245	c	MLT160	Multiple Endocrine Neoplasia, Type Iia	65	0.031

246		PRT010	Parathyroid Carcinoma	64	0.031

247		OST017	Osteomyelitis	64	0.031

248		CRP001	Carpal Tunnel Syndrome	64	0.031

249		HYP066	Hyperglycemia	64	0.031

250	P	ALP009	Alopecia Areata	64	0.031

251		OST003	Osteonecrosis	63	0.031

252		IRR002	Irritable Bowel Syndrome	63	0.031

253	P	CLD001	Cleidocranial Dysplasia	63	0.031

254		RHM027	Rheumatic Disease	62	0.031

255	P	PRP029	Porphyria	62	0.031

256	P	HYP609	Hypophosphatemic Rickets, X-Linked Dominant	62	0.031

257		THR024	Thrombosis	61	0.031

258		HYP266	Hypoxia	61	0.031

259	P	EHL001	Ehlers-Danlos Syndrome	61	0.031

260		SYN007	Synovitis	61	0.031

261	P	HMP007	Hemophilia	61	0.031

262	P	MCP040	Mucopolysaccharidosis-Plus Syndrome	61	0.031

263	P	SPN052	Spondyloarthropathy	61	0.031

264		ANR040	Aneurysm	61	0.031

265		SPT004	Septic Arthritis	60	0.031

266	P	NTR004	Neutropenia	60	0.031

267		NTH001	Netherton Syndrome	60	0.031

268		JNT002	Joint Disorders	60	0.031

269	P	HST010	Histiocytosis	60	0.031

270		GT001	Gout	60	0.031

271	P	PRT013	Portal Hypertension	59	0.031

272		PRS047	Prostatitis	59	0.031

273		SNS001	Sensorineural Hearing Loss	59	0.031

274		MRT001	Muir-Torre Syndrome	59	0.031

275	P	OST009	Osteochondritis Dissecans	58	0.031

276	P	HYP069	Hyperparathyroidism	58	0.031

277	P	HYP035	Hypophosphatasia	58	0.031

278		VSC002	Vascular Dementia	58	0.031

279		IMM158	Immune Suppression	57	0.031

280	P	LPD010	Lipodystrophy	57	0.031

281		ECT006	Ectodermal Dysplasia	57	0.031

282	P	LRY019	Laryngitis	57	0.031

283		PNM008	Pneumothorax	57	0.031

284	P	STC001	Stickler Syndrome	56	0.031

285	P	CHN012	Chondrosarcoma	56	0.031

286		BNF002	Bone Fracture	56	0.031

287		ANK001	Ankylosis	56	0.031

288		ACR008	Acrocallosal Syndrome	56	0.031

289		NLP001	Nail-Patella Syndrome	56	0.031

290		ALK013	Alkaptonuria	56	0.031

291	P	MSC003	Muscular Atrophy	55	0.031

292		RDC002	Radiculopathy	55	0.031

293		SPN051	Spondylitis	55	0.031

294		SPN019	Spondylolisthesis	55	0.031

295		DGN001	Degenerative Disc Disease	55	0.031

296		ABL002	Ablepharon-Macrostomia Syndrome	55	0.031

297		DYS014	Dyspepsia	54	0.031

298		PGM001	Pigmented Villonodular Synovitis	54	0.031

299		PST021	Postpartum Depression	54	0.031

300		SPH001	Sapho Syndrome	54	0.031

301		ASP003	Aseptic Meningitis	54	0.031

302		PRP032	Porphyria Variegata	54	0.031

303		ISL001	Islet Cell Tumor	54	0.031

304	c	NRD033	Neurodegeneration with Brain Iron Accumulation 2a	54	0.031

305		RST001	Restless Legs Syndrome	54	0.031

306		CLC001	Calciphylaxis	53	0.031

307		HYD058	Hydrops, Lactic Acidosis, and Sideroblastic Anemia	53	0.031

308		PRP016	Paraplegia	53	0.031

309		HYP068	Hyperostosis	52	0.031

310		OST011	Osteomalacia	52	0.031

311		URM002	Uremia	52	0.031

312		CLB010	Coloboma of Macula	52	0.031

313	P	CHR345	Chronic Pain	52	0.031

314		KND001	Kindler Syndrome	52	0.031

315		SPN020	Spondylosis	52	0.031

316		CLC006	Calcinosis	51	0.031

317		ATN005	Autonomic Dysfunction	51	0.031

318		ART140	Arteries, Anomalies of	51	0.031

319	P	PRX021	Proximal Symphalangism	51	0.031

320		BRX001	Bruxism	51	0.031

321		HMR002	Hemarthrosis	51	0.031

322		CHN070	Cohen-Gibson Syndrome	51	0.031

323		PRS045	Prostatic Hypertrophy	51	0.031

324		HYP806	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	51	0.031

325	P	GND004	Gonadal Dysgenesis	50	0.031

326		PRT029	Parathyroid Adenoma	50	0.031

327		HYD012	Hydrops Fetalis	50	0.031

328		PRT030	Parathyroid Gland Disease	50	0.031

329		HMS001	Hemosiderosis	50	0.031

330		ANS023	Anus, Imperforate	50	0.031

331		SLD003	Sialadenitis	49	0.031

332		BDY005	Body Mass Index Quantitative Trait Locus 9	49	0.031

333		MLT113	Multicentric Castleman Disease	49	0.031

334		RNL011	Renal Osteodystrophy	49	0.031

335		OCC006	Occipital Horn Syndrome	49	0.031

336		HYP063	Hypersplenism	49	0.031

337	P	GNT008	Giant Cell Tumor	49	0.031

338		FBR009	Fibrous Dysplasia	49	0.031

339	c	BRC078	Brachydactyly, Type A1	49	0.031

340		FRZ001	Frozen Shoulder	48	0.031

341		PLM017	Pulmonary Alveolar Microlithiasis	48	0.031

342		FSC004	Fasciitis	48	0.031

343		CRT017	Cartilage Disease	48	0.031

344		BDY019	Body Mass Index Quantitative Trait Locus 18	48	0.031

345	c	HYP293	Hypophosphatasia, Adult	48	0.031

346		MLT006	Multidrug-Resistant Tuberculosis	48	0.031

347	c	LBR014	Leber Congenital Amaurosis 4	48	0.031

348	P	SDR002	Siderosis	48	0.031

349	c	ACT078	Acute Porphyria	48	0.031

350		HYP025	Hyperphosphatemia	48	0.031

351	c	BRN108	Branchiootic Syndrome 1	47	0.031

352	P	MRD002	Marden-Walker Syndrome	47	0.031

353		SYN031	Synovial Chondromatosis	47	0.031

354	P	DNT011	Dentinogenesis Imperfecta	47	0.031

355		MLT016	Multicentric Reticulohistiocytosis	47	0.031

356		PLY012	Polyhydramnios	47	0.031

357	P	CHN059	Chondrocalcinosis	47	0.031

358	c	OPT051	Opitz Gbbb Syndrome, Type I	47	0.031

359		ALP012	Alpha-Methylacyl-Coa Racemase Deficiency	46	0.031

360	c	LSS005	Lissencephaly 1	46	0.031

361		SPS150	Spastic Ataxia, Charlevoix-Saguenay Type	46	0.031

362		CLB002	Clubfoot	46	0.031

363		SPN119	Spondylarthropathy	46	0.031

364		BDY017	Body Mass Index Quantitative Trait Locus 14	46	0.031

365		BDY015	Body Mass Index Quantitative Trait Locus 12	46	0.031

366		MCL075	Macular Dystrophy, Corneal	46	0.031

367	P	MLT072	Multiple Synostoses Syndrome	46	0.031

368		PRX015	Paroxysmal Extreme Pain Disorder	46	0.031

369		BCK006	Back Pain	46	0.031

370		END072	Endotheliitis	46	0.031

371		NTR003	Natural Killer Cell Leukemia	45	0.031

372		TND004	Tendinopathy	45	0.031

373	c	BRC079	Brachydactyly, Type A2	45	0.031

374		ONC003	Oncogenic Osteomalacia	45	0.031

375		BDY010	Body Mass Index Quantitative Trait Locus 4	45	0.031

376		MLT018	Multiple Carboxylase Deficiency	45	0.031

377		VLL003	Villonodular Synovitis	45	0.031

378		YMN001	Yemenite Deaf-Blind Hypopigmentation Syndrome	45	0.031

379		BDY011	Body Mass Index Quantitative Trait Locus 10	45	0.031

380		OST004	Osteitis Fibrosa	45	0.031

381		MCR037	Macroglossia	44	0.031

382		SPN411	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related	44	0.031

383		PST049	Postaxial Acrofacial Dysostosis	44	0.031

384		GLM008	Glomus Tumor	43	0.031

385	c	SPN297	Spondylocostal Dysostosis 3, Autosomal Recessive	43	0.031

386	c	HMC009	Hemochromatosis Type 2	43	0.031

387		HRD026	Hereditary Ataxia	43	0.031

388		HYP189	Hypoadrenalism	43	0.031

389		FRY002	Fryns Syndrome	43	0.031

390		GNT031	Genitopatellar Syndrome	43	0.031

391		HYD003	Hydrarthrosis	43	0.031

392		BZX001	Bazex Syndrome	43	0.031

393		PSD009	Pseudohermaphroditism	42	0.031

394		CRT008	Carotid Artery Dissection	42	0.031

395		DFF006	Diffuse Idiopathic Skeletal Hyperostosis	42	0.031

396		GLC086	Glucocorticoid-Induced Osteoporosis	42	0.031

397		BRS064	Bursitis	42	0.031

398		BDY006	Body Mass Index Quantitative Trait Locus 8	42	0.031

399		BDY012	Body Mass Index Quantitative Trait Locus 7	42	0.031

400		MLK003	Melkersson-Rosenthal Syndrome	42	0.031

401		CRN025	Corneal Dystrophy	42	0.031

402		TND005	Tendinitis	42	0.031

403	c	ALZ056	Alzheimer Disease 3	41	0.031

404		CHN053	Chondromyxoid Fibroma	41	0.031

405	c	EHL071	Ehlers-Danlos Syndrome, Periodontal Type, 1	41	0.031

406		OST097	Osteoporotic Fracture	41	0.031

407		PNC016	Pancreatic Cholera	41	0.031

408		PLS029	Plasminogen Activator Inhibitor-1 Deficiency	41	0.031

409		SPN060	Spondylocarpotarsal Synostosis Syndrome	41	0.031

410	c	HYP057	Hypervitaminosis D	40	0.031

411	c	FBR046	Fibrosis of Extraocular Muscles, Congenital, 1	40	0.031

412		CMP080	Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy	40	0.031

413		ADR038	Adermatoglyphia	40	0.031

414		PLY082	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy	40	0.031

415		SCN001	Secondary Hyperparathyroidism of Renal Origin	40	0.031

416		TTR025	Tetraamelia Syndrome, Autosomal Recessive	40	0.031

417		MHR001	Mohr-Tranebjaerg Syndrome	39	0.031

418		CRN286	Corneal Dystrophy, Meesmann	39	0.031

419		CLR014	Clear Cell Adenoma	39	0.031

420		PLY112	Polyarteritis Nodosa, Childhood-Onset	39	0.031

421	c	PSR018	Psoriasis 13	39	0.031

422		HYP041	Hypochondrogenesis	39	0.031

423		BNM029	Bone Mineral Density Quantitative Trait Locus 15	39	0.031

424		ATX038	Ataxia and Polyneuropathy, Adult-Onset	38	0.031

425		OPS002	Opsismodysplasia	38	0.031

426		STV003	Stuve-Wiedemann Syndrome	38	0.031

427	P	ATL001	Atelosteogenesis	38	0.031

428		ENT004	Enthesopathy	38	0.031

429	c	HYD060	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	38	0.031

430	c	CTR122	Cataract 5, Multiple Types	38	0.031

431		OSG001	Osgood-Schlatter's Disease	37	0.031

432		HYP007	Hypermobility Syndrome	37	0.031

433		KSH004	Kashin-Beck Disease	37	0.031

434	P	GLM006	Glomangioma	37	0.031

435	P	HYP733	Hypercalciuria, Absorptive, 2	37	0.031

436		SXD001	Sex Differentiation Disease	37	0.031

437		HMP018	Hemophilic Arthropathy	37	0.031

438	P	ANX007	Anauxetic Dysplasia 1	36	0.031

439		OCH001	Ochronosis	36	0.031

440		BRN118	Brain Small Vessel Disease with or Without Ocular Anomalies	36	0.031

441		CHN011	Chondromalacia	36	0.031

442		INT003	Intracranial Hypotension	36	0.031

443	c	HYD043	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2	36	0.031

444		MTT002	Metatropic Dysplasia	35	0.031

445		CLC003	Cloacogenic Carcinoma	35	0.031

446		CHR178	Chromosomal Triplication	35	0.031

447		MNN028	Mononeuropathy of the Median Nerve, Mild	35	0.031

448		PLN007	Plantar Fasciitis	35	0.031

449		EPT021	Epithelial Recurrent Erosion Dystrophy	35	0.031

450		OVR093	Overhydrated Hereditary Stomatocytosis	35	0.031

451		PRN039	Paraneoplastic Syndromes	35	0.031

452		MYC014	Mycobacterium Chelonae	34	0.031

453		MNG003	Mungan Syndrome	34	0.031

454		PHS001	Phosphorus Metabolism Disease	34	0.031

455		HYD059	Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect	34	0.031

456		OST167	Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis	34	0.031

457		LYS021	Loeys-Dietz Syndrome 3	33	0.031

458		PRS037	Periostitis	33	0.031

459		GRW036	Growth Control, Y-Chromosome Influenced	33	0.031

460	c	ATL015	Atelosteogenesis, Type Ii	33	0.031

461		GST039	Gastroduodenitis	33	0.031

462		SHR059	Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis	33	0.031

463		MNR003	Mineral Metabolism Disease	33	0.031

464		ULN001	Ulnar Neuropathy	33	0.031

465		CRN273	Corneal Dystrophy, Subepithelial Mucinous	32	0.031

466		CDS002	Codas Syndrome	32	0.031

467		TTH001	Tooth Ankylosis	32	0.031

468		BNM022	Bone Mineral Density Quantitative Trait Locus 8	32	0.031

469	c	INV003	Invasive Malignant Thymoma	32	0.031

470		LYM014	Lymphangitis	32	0.031

471	c	EPP017	Epiphyseal Dysplasia, Multiple, 1	31	0.031

472		HMM002	Haim-Munk Syndrome	31	0.031

473		DYG001	Dyggve-Melchior-Clausen Disease	31	0.031

474		BNR001	Bone Remodeling Disease	31	0.031

475		ALG027	Al-Gazali-Bakalinova Syndrome	31	0.031

476		FTL029	Fetal Thalidomide Syndrome	30	0.031

477		EXT007	Extracutaneous Mastocytoma	30	0.031

478	P	BRC003	Brachyolmia	30	0.031

479		JXT001	Juxtacortical Chondroma	30	0.031

480		THR017	Thoracoabdominal Syndrome	30	0.031

481		PLY135	Polydactyly, Postaxial, with Progressive Myopia	30	0.031

482		RBN014	Robin Sequence with Cleft Mandible and Limb Anomalies	29	0.031

483	c	MLT141	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly	29	0.031

484	c	FML169	Familial Osteochondritis Dissecans	29	0.031

485		CSN001	Cousin Syndrome	28	0.031

486		SPN340	Spontaneous Intracranial Hypotension	28	0.031

487		VTR001	Vitreoretinal Dystrophy	28	0.031

488	c	EPP014	Epiphyseal Dysplasia, Multiple, 4	28	0.031

489		DVL012	Developmental Dysplasia of the Hip 1	27	0.031

490		WGN003	Wagner Syndrome	27	0.031

491	c	EPP013	Epiphyseal Dysplasia, Multiple, 5	27	0.031

492		PRR001	Periarthritis	27	0.031

493		SCL022	Scleredema	27	0.031

494		OCC008	Occipital Neuralgia	27	0.031

495		PRG090	Progressive Relapsing Multiple Sclerosis	26	0.031

496		PRF003	Piriformis Syndrome	26	0.031

497		TRC037	Tracheobronchomalacia	26	0.031

498		VTR002	Vitreous Syneresis	25	0.031

499		IMP003	Impaired Renal Function Disease	25	0.031

500		EXT012	Extraskeletal Chondroma	25	0.031

501		PRS051	Parastremmatic Dwarfism	25	0.031

502		SCL007	Sclerosing Hepatic Carcinoma	25	0.031

503		CLF051	Cleft Larynx, Posterior	24	0.031

504		FLR007	Failure of Tooth Eruption, Primary	23	0.031

505		BLD163	Blood Group, Dombrock System	23	0.031

506		NTR027	Neutrophil Actin Dysfunction	23	0.031

507		PRN008	Peroneal Nerve Paralysis	23	0.031

508	P	JVN024	Juvenile Hereditary Hemochromatosis	22	0.031

509	c	FML324	Familial Porphyria Cutanea Tarda	22	0.031

510	c	DSB005	Desbuquois Dysplasia 2	22	0.031

511		FBR010	Fibrogenesis Imperfecta Ossium	22	0.031

512		SPN359	Spondyloepimetaphyseal Dysplasia, Shohat Type	22	0.031

513		ATL010	Atlantoaxial Subluxation	21	0.031

514		ANT051	Anterior Cruciate Ligament Tears	21	0.031

515		EPP022	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	21	0.031

516	P	CNG070	Congenital Dislocation of the Patella	21	0.031

517		PPL054	Popliteal Cyst	20	0.031

518		RNL089	Renal Nutcracker Syndrome	20	0.031

519		PLY150	Polykaryocytosis Inducer	20	0.031

520	P	CLL020	Collagenopathy Type 2 Alpha 1	20	0.031

521		DFF027	Diffuse Lymphatic Malformation	19	0.031

522		VRT002	Vertebral Artery Insufficiency	19	0.031

523		SPN189	Spondyloepiphyseal Dysplasia, Kimberley Type	18	0.031

524		THM005	Thumb Deformity	18	0.031

525		MGR035	Migraine with Brainstem Aura	17	0.031

526		BLD153	Blood Group--Swann System	17	0.031

527	P	FML048	Familial Avascular Necrosis of the Femoral Head	17	0.031

528		HDC005	Headache Associated with Sexual Activity	17	0.031

529		XP2001	Xp22.3 Microdeletion Syndrome	17	0.031

530	c	NNT025	Neonatal Systemic Lupus Erythematosus	16	0.031

531		EPP019	Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia	14	0.031

532		TRC064	Trochlear Dysplasia	13	0.031

533		EPP018	Epiphyseal Dysplasia, Multiple, with Miniepiphyses	13	0.031

534		INT147	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies	11	0.031

535		HND010	Handigodu Disease	11	0.031

536		BRC020	Brachydactylous Dwarfism Mseleni Type	5	0.031

537		MSM020	Mesomelic Dysplasia, Camera Type	4	0.031

538		DPP001	Dappled Diaphyseal Dysplasia	3	0.031

539		MRT005	Maroteaux Stanescu Cousin Syndrome	3	0.031