Search results for "chondrodysplasia"

The MalaCard for "chondrodysplasia" has been retired.
Searching MalaCards for entries containing "chondrodysplasia"

341 hits were found for 'chondrodysplasia'

# Family MCID Name MIFTS Score
1
c CHN062 Chondrodysplasia Punctata, Rhizomelic, Type 1 44 5.699
2
P CHN044 Chondrodysplasia Punctata Syndrome 34 5.637
3
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 46 5.617
4
CHN054 Chondrodysplasia, Blomstrand Type 42 5.586
5
c CHN058 Chondrodysplasia Punctata, Rhizomelic, Type 2 29 5.298
6
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 28 5.056
7
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 43 5.032
8
c CHN061 Chondrodysplasia Punctata, Rhizomelic, Type 3 27 4.872
9
P RHZ001 Rhizomelic Chondrodysplasia Punctata 47 4.843
10
CHN057 Chondrodysplasia, Grebe Type 36 4.798
11
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 35 4.648
12
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 4.331
13
CRT002 Cartilage-Hair Hypoplasia 57 4.155
14
MTP028 Metaphyseal Dysplasia, Spahr Type 25 4.119
15
c CHN017 Chondrodysplasia Punctata 1, X-Linked 12 3.917
16
WSS003 Weissenbacher-Zweymuller Syndrome 42 3.806
17
c CHN018 Chondrodysplasia Punctata 2, X-Linked 15 3.660
18
CHN037 Chondrodysplasia Punctata, Unclassified 6 3.317
19
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 22 3.275
20
OST062 Osteoarthritis with Mild Chondrodysplasia 22 3.239
21
CHN068 Chondrodysplasia Punctata, Autosomal Dominant Chondrodysplasia Punctata Due to Vitamin K Deficiency, Included 14 2.998
22
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 17 2.967
23
c ATL011 Atelosteogenesis, Type I 35 2.905
24
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 29 2.905
25
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 2.891
26
P XLN161 X-Linked Chondrodysplasia Punctata 27 2.705
27
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 12 2.543
28
EPP011 Epiphyseal Chondrodysplasia, Miura Type 17 2.528
29
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 17 2.512
30
SCH030 Schneckenbecken Dysplasia 33 2.494
31
OTS002 Otospondylomegaepiphyseal Dysplasia 50 2.474
32
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 18 2.474
33
c ATS181 Autosomal Dominant Chondrodysplasia Punctata 7 2.163
34
c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 11 2.127
35
ACR096 Acromesomelic Dysplasia, Demirhan Type 18 2.098
36
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 12 2.098
37
MTP031 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 9 2.082
38
LTH005 Lethal Chondrodysplasia Moerman Type 13 2.082
39
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 10 2.082
40
CHN026 Chondrodysplasia Calcificans Metaphysealis 3 2.082
41
CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 5 2.064
42
CHN027 Chondrodysplasia Lethal Recessive 13 2.064
43
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 30 2.020
44
TRC060 Trichoscyphodysplasia 5 2.020
45
CHN030 Chondrodysplasia Punctata Sheffield Type 3 1.579
46
LTH006 Lethal Chondrodysplasia Seller Type 2 1.538
47
MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 3 1.522
48
CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 3 1.504
49
CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 2 1.504
50
MTP008 Metaphyseal Chondrodysplasia, Others 1 1.504
51
MLT145 Multiple Enchondromatosis, Maffucci Type 48 1.484
52
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 18 1.484
53
CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 1 1.484
54
SHW002 Shwachman-Diamond Syndrome 59 1.460
55
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 30 1.460
56
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 27 1.460
57
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 39 1.428
58
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 18 1.428
59
OSM002 Osmed Syndrome 15 1.428
60
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 1.428
61
FRS005 Fraser Jequier Chen Syndrome 4 1.428
62
OST015 Osteochondrodysplasia 54 0.244
63
P CTR002 Cataract 57 0.155
64
DWR001 Dwarfism 42 0.155
65
ALR002 Al-Raqad Syndrome 36 0.151
66
PRX034 Peroxisome Disorders 24 0.141
67
AYM001 Ayme-Gripp Syndrome 40 0.131
68
P CRV039 Cervicitis 45 0.131
69
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.119
70
P OST012 Osteoarthritis 81 0.119
71
P BRC006 Brachydactyly 53 0.119
72
PRX077 Peroxisomal Biogenesis Disorders 37 0.113
73
SKL017 Skeletal Dysplasias 41 0.113
74
ACH004 Achondroplasia 64 0.107
75
EPD022 Epidermolysis Bullosa Pruriginosa 39 0.107
76
SPS057 Spasticity 41 0.107
77
P ZLL001 Zellweger Syndrome 49 0.100
78
SKL014 Skeletal Dysplasia 44 0.100
79
KND001 Kindler Syndrome 54 0.092
80
HPT074 Hepatic Adenoma, Somatic 35 0.092
81
VTM001 Vitamin K Deficiency Hemorrhagic Disease 37 0.092
82
OTP003 Oto-Palatal-Digital Syndrome 14 0.092
83
CNG065 Congenital Contractures 27 0.092
84
DST005 Diastrophic Dysplasia 57 0.084
85
P LPS004 Lupus Erythematosus 63 0.084
86
c PRX050 Peroxisome Biogenesis Disorder 9b 25 0.084
87
ADR007 Adrenoleukodystrophy 74 0.075
88
P RHM011 Rheumatoid Arthritis 87 0.075
89
P RFS001 Refsum Disease 60 0.075
90
ACR011 Acromesomelic Dysplasia, Maroteaux Type 53 0.075
91
P ART022 Arthritis 73 0.075
92
P HPT021 Hepatitis 74 0.075
93
THR013 Thoracic Outlet Syndrome 48 0.075
94
PYL017 Pyle Disease 45 0.075
95
ICH054 Ichthyosis, X-Linked 46 0.075
96
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 30 0.075
97
P PLY006 Polydactyly 56 0.075
98
CRN246 Cranioosteoarthropathy 32 0.075
99
ALP008 Alopecia 56 0.075
100
P HYP004 Hypercalcemia 54 0.075
101
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 0.075
102
P INT063 Intellectual Disability 46 0.075
103
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.075
104
P CLL020 Collagenopathy Type 2 Alpha 1 13 0.075
105
ACR016 Acromesomelic Dysplasia 33 0.075
106
RTN023 Retinitis 49 0.075
107
c SYS001 Systemic Lupus Erythematosus 87 0.065
108
P RSP003 Respiratory Failure 68 0.065
109
MLT135 Multiple Sulfatase Deficiency 52 0.065
110
P TRN020 Turner Syndrome 64 0.065
111
P RTN008 Retinitis Pigmentosa 78 0.065
112
P RCK004 Rickets 59 0.065
113
P KLL001 Kallmann Syndrome 61 0.065
114
MCR013 Microphthalmia 57 0.065
115
IMP002 Imperforate Anus 54 0.065
116
c PRX059 Peroxisome Biogenesis Disorder 1a 27 0.065
117
P SCL018 Scoliosis 56 0.065
118
STS002 Situs Inversus 43 0.065
119
HYP017 Hypophosphatemia 43 0.065
120
P ACH011 Achondrogenesis 39 0.065
121
NNT004 Neonatal Respiratory Failure 38 0.065
122
DYS018 Dysostosis 43 0.065
123
P ATL001 Atelosteogenesis 36 0.065
124
NRN002 Neuronitis 40 0.065
125
GRN039 Greenberg Skeletal Dysplasia 40 0.053
126
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.053
127
P MTC003 Metachromatic Leukodystrophy 71 0.053
128
P OST005 Osteogenesis Imperfecta 68 0.053
129
c MCP009 Mucopolysaccharidosis Ii 62 0.053
130
c MCP001 Mucopolysaccharidosis Iii 57 0.053
131
SMT004 Smith-Lemli-Opitz Syndrome 66 0.053
132
c SPN225 Spondyloarthropathy 1 62 0.053
133
c MCP024 Mucopolysaccharidosis Type Vi 61 0.053
134
MHR001 Mohr-Tranebjaerg Syndrome 43 0.053
135
P EPD002 Epidermolytic Hyperkeratosis 51 0.053
136
SCH068 Schwartz-Jampel Syndrome, Type 1 34 0.053
137
P HYD006 Hydrocephalus 68 0.053
138
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 51 0.053
139
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.053
140
c HRD010 Hereditary Spastic Paraplegia 66 0.053
141
NSH001 Nasu-Hakola Disease 46 0.053
142
P MRT001 Muir-Torre Syndrome 59 0.053
143
LRN004 Laron Dwarfism 58 0.053
144
P ICH001 Ichthyosis Vulgaris 44 0.053
145
KNS001 Kniest Dysplasia 52 0.053
146
P NRV007 Nervous System Disease 71 0.053
147
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.053
148
NTH001 Netherton Syndrome 52 0.053
149
c ICH041 Ichthyosis, Autosomal Recessive 4b 35 0.053
150
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.053
151
MSM001 Meesmann Corneal Dystrophy 42 0.053
152
c ACH035 Achondrogenesis Ib 46 0.053
153
c ACH033 Achondrogenesis, Type Ia 45 0.053
154
LNG024 Langerhans-Cell Histiocytosis 64 0.053
155
MLL012 Miller Syndrome 43 0.053
156
PRL032 Perlman Syndrome 55 0.053
157
ENC044 Enchondromatosis, Multiple, Ollier Type 44 0.053
158
SPN060 Spondylocarpotarsal Synostosis Syndrome 38 0.053
159
c PSD066 Pseudohypoparathyroidism, Type Ib 49 0.053
160
P PCH001 Pachyonychia Congenita 54 0.053
161
HYP042 Hypochondroplasia 55 0.053
162
BLD087 Bladder Cancer, Somatic 54 0.053
163
P SMP003 Simpson-Golabi-Behmel Syndrome 46 0.053
164
CHR063 Chronic Mucocutaneous Candidiasis 61 0.053
165
P MLT007 Multiple Epiphyseal Dysplasia 50 0.053
166
EYL005 Eyelid Disease 41 0.053
167
CNG008 Congenital Ichthyosiform Erythroderma 52 0.053
168
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 42 0.053
169
ACR013 Acrodysostosis 50 0.053
170
ALP001 Alopecia Universalis 57 0.053
171
c PRX060 Peroxisome Biogenesis Disorder 5a 31 0.053
172
EPD065 Epidermolytic Ichthyosis 38 0.053
173
HRY003 Hairy Cell Leukemia 56 0.053
174
CNT047 Contact Dermatitis 62 0.053
175
c DSB006 Desbuquois Dysplasia 1 34 0.053
176
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.053
177
P MRD002 Marden-Walker Syndrome 39 0.053
178
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 25 0.053
179
c PRX063 Peroxisome Biogenesis Disorder 2a 27 0.053
180
CSN001 Cousin Syndrome 28 0.053
181
ADR038 Adermatoglyphia 39 0.053
182
ALL010 Allergic Contact Dermatitis 58 0.053
183
HYD012 Hydrops Fetalis 45 0.053
184
P LKD001 Leukodystrophy 58 0.053
185
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.053
186
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 25 0.053
187
SCH014 Schistosomiasis 59 0.053
188
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.053
189
c PRX046 Peroxisome Biogenesis Disorder 7a 25 0.053
190
c PRX061 Peroxisome Biogenesis Disorder 8a, 26 0.053
191
c PRX054 Peroxisome Biogenesis Disorder 12a 26 0.053
192
c PRX055 Peroxisome Biogenesis Disorder 11a 33 0.053
193
P PRX051 Peroxisome Biogenesis Disorder 6a 26 0.053
194
FRY002 Fryns Syndrome 37 0.053
195
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 40 0.053
196
c PRX065 Peroxisome Biogenesis Disorder 3a 27 0.053
197
RCT015 Reactive Arthritis 65 0.053
198
RHM027 Rheumatic Disease 55 0.053
199
c HRD026 Hereditary Ataxia 46 0.053
200
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.053
201
BLP004 Blepharophimosis 38 0.053
202
MCN007 Meconium Aspiration Syndrome 52 0.053
203
P MCP010 Mucopolysaccharidosis 58 0.053
204
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 24 0.053
205
c SYS004 Systemic Mastocytosis 60 0.053
206
ACQ007 Acquired Immunodeficiency Syndrome 60 0.053
207
P HST010 Histiocytosis 56 0.053
208
PRP016 Paraplegia 49 0.053
209
PGM001 Pigmented Villonodular Synovitis 48 0.053
210
ECH003 Echinococcosis 53 0.053
211
P PNC044 Pancreatitis 62 0.053
212
LYM021 Lymphadenitis 58 0.053
213
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.053
214
ERD001 Erdheim-Chester Disease 51 0.053
215
OST017 Osteomyelitis 60 0.053
216
PLY012 Polyhydramnios 45 0.053
217
KYP002 Kyphomelic Dysplasia 24 0.053
218
DPH001 Diphtheria 55 0.053
219
HDR002 Hidradenitis Suppurativa 53 0.053
220
MLT016 Multicentric Reticulohistiocytosis 46 0.053
221
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.053
222
OHD004 Ohdo Syndrome 33 0.053
223
MXD005 Mixed Connective Tissue Disease 63 0.053
224
CNN005 Connective Tissue Disease 60 0.053
225
P SPN052 Spondyloarthropathy 58 0.053
226
PLR001 Pleural Tuberculosis 47 0.053
227
WRF003 Warfarin Syndrome 30 0.053
228
BRN012 Bronchiolitis Obliterans 58 0.053
229
SYN007 Synovitis 56 0.053
230
PNN001 Panniculitis 47 0.053
231
P UVT001 Uveitis 60 0.053
232
RNL078 Renal Dysplasia 48 0.053
233
RNL011 Renal Osteodystrophy 48 0.053
234
P MYC008 Myocarditis 56 0.053
235
STP004 Staphylococcal Toxic Shock Syndrome 43 0.053
236
FDL002 Food Allergy 56 0.053
237
INT038 Interdigitating Dendritic Cell Sarcoma 35 0.053
238
ILT001 Ileitis 48 0.053
239
CYT005 Cytomegalovirus Retinitis 48 0.053
240
MND001 Mandibular Cancer 31 0.053
241
BRT030 Birth Defects 44 0.053
242
LNG004 Langerhans Cell Sarcoma 35 0.053
243
BDY001 Body Dysmorphic Disorder 41 0.053
244
P SCL015 Scleritis 49 0.053
245
HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 33 0.053
246
GNT001 Giant Cell Reparative Granuloma 41 0.053
247
P ATX004 Ataxia 53 0.053
248
CRN273 Corneal Dystrophy, Subepithelial Mucinous 29 0.053
249
JNT002 Joint Disorders 55 0.053
250
PLM012 Pulmonary Sarcoidosis 54 0.053
251
PSD009 Pseudohermaphroditism 39 0.053
252
OPP002 Opportunistic Mycosis 42 0.053
253
JWC001 Jaw Cancer 39 0.053
254
P PSD015 Pseudohypoparathyroidism 43 0.053
255
HDR003 Hidradenitis 46 0.053
256
RHM009 Rheumatoid Lung Disease 41 0.053
257
BNN003 Bone Inflammation Disease 46 0.053
258
c INT064 Intermediate Uveitis 47 0.053
259
P CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 26 0.053
260
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 41 0.053
261
P KRT005 Keratoacanthoma 41 0.053
262
P TRN034 Transverse Myelitis 43 0.053
263
DSC009 Discoid Lupus Erythematosus 40 0.053
264
P GNT008 Giant Cell Tumor 51 0.053
265
c PST005 Posterior Uveitis 46 0.053
266
P OMD003 Omodysplasia 32 0.053
267
CVR001 Cavernous Sinus Meningioma 21 0.053
268
BLP034 Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type 12 0.053
269
SXD001 Sex Differentiation Disease 39 0.053
270
TNS001 Tenosynovial Giant Cell Tumor 31 0.053
271
DND018 Dendritic Cell Tumor 40 0.053
272
SPN119 Spondylarthropathy 46 0.053
273
CRD137 Cardiogenic Shock 44 0.053
274
HST008 Histiocytic and Dendritic Cell Cancer 24 0.053
275
MCR225 Macrophage Activation Syndrome 39 0.053
276
MSM003 Mesomelia 14 0.053
277
SML004 Small Intestine Neuroendocrine Neoplasm 39 0.053
278
CND006 Candida Glabrata 35 0.053
279
P OVR106 Ovarian Clear Cell Carcinoma 43 0.053
280
EXT035 Extrinsic Cardiomyopathy 38 0.053
281
BRN021 Brain Sarcoma 30 0.053
282
HYP070 Hyperpituitarism 40 0.053
283
FLM001 Filamentary Keratitis 30 0.053
284
ALK005 Alk+ Histiocytosis 11 0.053
285
TRC006 Trichosporonosis 29 0.053
286
CRT004 Carotid Artery Thrombosis 38 0.053
287
GRN003 Granulomatous Dermatitis 32 0.053
288
c ATM022 Autoimmune Myocarditis 39 0.053
289
SLP010 Slipped Capital Femoral Epiphysis 32 0.053
290
MRT005 Maroteaux Stanescu Cousin Syndrome 2 0.053
291
INC021 Incontinentia Pigmenti 57 0.038
292
P DYS154 Dystonia 62 0.038
293
SDC002 Sed Congenita 44 0.038
294
P DYS007 Dyskeratosis Congenita 64 0.038
295
TTR001 Tetralogy of Fallot 69 0.038
296
c EPP014 Epiphyseal Dysplasia, Multiple, 4 35 0.038
297
SPN250 Spondyloepimetaphyseal Dysplasia 48 0.038
298
INS024 Insulin-Like Growth Factor I 75 0.038
299
c EPP017 Epiphyseal Dysplasia, Multiple, 1 33 0.038
300
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.038
301
c JVN010 Juvenile Rheumatoid Arthritis 65 0.038
302
P MYP004 Myopathy 67 0.038
303
c PRX045 Peroxisome Biogenesis Disorder 1b 50 0.038
304
SDD003 Saddan 30 0.038
305
c BRC081 Brachydactyly, Type C 39 0.038
306
OCL001 Ocular Albinism 46 0.038
307
OPT037 Optic Nerve Hypoplasia 50 0.038
308
DPN005 Du Pan Syndrome 44 0.038
309
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 23 0.038
310
c OST080 Osteogenesis Imperfecta, Type Ii 50 0.038
311
BLN001 Blount's Disease 46 0.038
312
OPS002 Opsismodysplasia 32 0.038
313
P NTR004 Neutropenia 59 0.038
314
P FBR025 Fibrochondrogenesis 49 0.038
315
MTT002 Metatropic Dysplasia 32 0.038
316
P PRT013 Portal Hypertension 61 0.038
317
c DSB005 Desbuquois Dysplasia 2 21 0.038
318
P DNT011 Dentinogenesis Imperfecta 42 0.038
319
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 17 0.038
320
PNM008 Pneumothorax 51 0.038
321
OSB001 Osebold-Remondini Syndrome 17 0.038
322
P SPN016 Spondylocostal Dysostosis 36 0.038
323
EXS001 Exostosis 42 0.038
324
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 33 0.038
325
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 17 0.038
326
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.038
327
ALB002 Albinism 43 0.038
328
P NRP001 Neuropathy 57 0.038
329
HYP063 Hypersplenism 49 0.038
330
PRX001 Peroxisomal Disease 37 0.038
331
MSL005 Mseleni Joint Disease 19 0.038
332
AST010 Astley-Kendall Syndrome 12 0.038
333
EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 11 0.038
334
EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 11 0.038
335
PNC041 Pancreatic Ductal Adenocarcinoma 64 0.038
336
TRC037 Tracheobronchomalacia 20 0.038
337
c TYP019 Type Ii Collagenopathies 11 0.038
338
ECT006 Ectodermal Dysplasia 46 0.038
339
CRB009 Cerebritis 36 0.038
340
DPP001 Dappled Diaphyseal Dysplasia 5 0.038
341
c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 25 0.038