Search results for "chondrodysplasia"

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

343 hits were found for 'chondrodysplasia'

# Family MCID Name MIFTS Score
1
MTP026 Metaphyseal Chondrodysplasia, Murk Jansen Type 45 5.561
2
CHN054 Chondrodysplasia, Blomstrand Type 40 5.520
3
P CHN044 Chondrodysplasia Punctata Syndrome 35 5.504
4
c CHN062 Chondrodysplasia Punctata, Rhizomelic, Type 1 43 5.422
5
c CHN058 Chondrodysplasia Punctata, Rhizomelic, Type 2 28 5.239
6
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 5.013
7
c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27 4.989
8
c CHN061 Chondrodysplasia Punctata, Rhizomelic, Type 3 26 4.823
9
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 4.799
10
P RHZ001 Rhizomelic Chondrodysplasia Punctata 46 4.793
11
CHN057 Chondrodysplasia, Grebe Type 34 4.757
12
CHN043 Chondrodysplasia with Joint Dislocations, Grapp Type 20 4.293
13
CRT002 Cartilage-Hair Hypoplasia 58 4.111
14
MTP028 Metaphyseal Dysplasia, Spahr Type 31 4.074
15
c CHN017 Chondrodysplasia Punctata 1, X-Linked 12 3.875
16
WSS003 Weissenbacher-Zweymuller Syndrome 40 3.773
17
c CHN018 Chondrodysplasia Punctata 2, X-Linked 14 3.603
18
CHN068 Chondrodysplasia Punctata, Autosomal Dominant Chondrodysplasia Punctata Due to Vitamin K Deficiency, Included 14 3.269
19
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 21 3.247
20
CHN037 Chondrodysplasia Punctata, Unclassified 6 3.247
21
OST062 Osteoarthritis with Mild Chondrodysplasia 22 3.211
22
CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 18 3.211
23
CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 16 2.942
24
c RHZ013 Rhizomelic Chondrodysplasia Punctata Type 5 13 2.907
25
c ATL011 Atelosteogenesis, Type I 35 2.880
26
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 28 2.880
27
EPP011 Epiphyseal Chondrodysplasia, Miura Type 17 2.880
28
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 43 2.850
29
P XLN161 X-Linked Chondrodysplasia Punctata 26 2.650
30
LKN009 Leukoencephalopathy with Metaphyseal Chondrodysplasia 12 2.521
31
ACR096 Acromesomelic Dysplasia, Demirhan Type 17 2.506
32
SCH030 Schneckenbecken Dysplasia 31 2.473
33
OTS002 Otospondylomegaepiphyseal Dysplasia 48 2.452
34
SPN152 Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 17 2.452
35
c ATS181 Autosomal Dominant Chondrodysplasia Punctata 7 2.109
36
LTH005 Lethal Chondrodysplasia Moerman Type 13 2.064
37
CHN066 Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density 11 2.064
38
c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 11 2.064
39
MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 10 2.064
40
MTP031 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 9 2.064
41
CHN026 Chondrodysplasia Calcificans Metaphysealis 4 2.064
42
CHN027 Chondrodysplasia Lethal Recessive 13 2.046
43
CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 6 2.046
44
ART116 Arthropathy, Progressive Pseudorheumatoid, of Childhood 28 2.002
45
TRC060 Trichoscyphodysplasia 4 2.002
46
CHN030 Chondrodysplasia Punctata Sheffield Type 3 1.525
47
LTH006 Lethal Chondrodysplasia Seller Type 2 1.509
48
MTP007 Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 2 1.509
49
CHN033 Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly 3 1.491
50
CHN032 Chondrodysplasia Punctata, Humero-Metacarpal Type 2 1.491
51
MTP008 Metaphyseal Chondrodysplasia, Others 2 1.491
52
CHN031 Chondrodysplasia Punctata with Steroid Sulfatase Deficiency 2 1.471
53
SHW002 Shwachman-Diamond Syndrome 60 1.447
54
MLT145 Multiple Enchondromatosis, Maffucci Type 40 1.447
55
PLT014 Platyspondylic Skeletal Dysplasia, Torrance Type 29 1.447
56
SPN361 Spondylometaphyseal Dysplasia, Algerian Type 26 1.447
57
ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 26 1.447
58
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 38 1.416
59
c STC014 Stickler Syndrome, Type Iii 31 1.416
60
OSM002 Osmed Syndrome 21 1.416
61
SPN329 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 18 1.416
62
BND017 Bone Dysplasia, Lethal, Holmgren Type 16 1.416
63
FRS005 Fraser Jequier Chen Syndrome 3 1.416
64
OST015 Osteochondrodysplasia 53 0.176
65
DWR001 Dwarfism 46 0.146
66
P CTR002 Cataract 57 0.130
67
P CRV039 Cervicitis 44 0.125
68
PRX034 Peroxisome Disorders 40 0.119
69
P OST012 Osteoarthritis 82 0.113
70
ALR002 Al-Raqad Syndrome 36 0.106
71
P BRC006 Brachydactyly 52 0.100
72
AYM001 Ayme-Gripp Syndrome 45 0.100
73
P LPS004 Lupus Erythematosus 63 0.084
74
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.084
75
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.084
76
DST005 Diastrophic Dysplasia 52 0.084
77
SKL014 Skeletal Dysplasia 46 0.084
78
SKL017 Skeletal Dysplasias 45 0.084
79
SPS057 Spasticity 42 0.084
80
PRX077 Peroxisomal Biogenesis Disorders 41 0.084
81
ACH004 Achondroplasia 66 0.075
82
P RCK004 Rickets 59 0.075
83
EPD022 Epidermolysis Bullosa Pruriginosa 38 0.075
84
c PRX050 Peroxisome Biogenesis Disorder 9b 24 0.075
85
P RHM011 Rheumatoid Arthritis 88 0.065
86
c SYS001 Systemic Lupus Erythematosus 87 0.065
87
P ART022 Arthritis 75 0.065
88
ADR007 Adrenoleukodystrophy 71 0.065
89
P HPT021 Hepatitis 70 0.065
90
P RFS001 Refsum Disease 62 0.065
91
P KLL001 Kallmann Syndrome 60 0.065
92
P PLY006 Polydactyly 55 0.065
93
ACR011 Acromesomelic Dysplasia, Maroteaux Type 51 0.065
94
HPT074 Hepatic Adenoma, Somatic 51 0.065
95
KND001 Kindler Syndrome 50 0.065
96
RTN023 Retinitis 49 0.065
97
VTM001 Vitamin K Deficiency Hemorrhagic Disease 36 0.065
98
CNG065 Congenital Contractures 29 0.065
99
HNM002 Hinman Syndrome 25 0.065
100
P RTN008 Retinitis Pigmentosa 79 0.053
101
P RSP003 Respiratory Failure 70 0.053
102
P OST005 Osteogenesis Imperfecta 67 0.053
103
SMT004 Smith-Lemli-Opitz Syndrome 67 0.053
104
P TRN020 Turner Syndrome 64 0.053
105
CNN005 Connective Tissue Disease 61 0.053
106
P PNC044 Pancreatitis 60 0.053
107
MCR013 Microphthalmia 59 0.053
108
P SCL018 Scoliosis 56 0.053
109
ALP008 Alopecia 55 0.053
110
KNS001 Kniest Dysplasia 53 0.053
111
P INT063 Intellectual Disability 53 0.053
112
P DSB006 Desbuquois Dysplasia 1 53 0.053
113
MLT135 Multiple Sulfatase Deficiency 53 0.053
114
IMP002 Imperforate Anus 52 0.053
115
P HYP237 Hypercalcemia, Infantile 51 0.053
116
ICH054 Ichthyosis, X-Linked 48 0.053
117
PYL017 Pyle Disease 45 0.053
118
RNL078 Renal Dysplasia 45 0.053
119
DYS018 Dysostosis 44 0.053
120
c ACH035 Achondrogenesis Ib 44 0.053
121
c ACH033 Achondrogenesis, Type Ia 43 0.053
122
HYP017 Hypophosphatemia 42 0.053
123
NRN002 Neuronitis 42 0.053
124
NNT004 Neonatal Respiratory Failure 41 0.053
125
GRN039 Greenberg Skeletal Dysplasia 38 0.053
126
P ACH011 Achondrogenesis 38 0.053
127
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.053
128
P ATL001 Atelosteogenesis 37 0.053
129
ADP007 Adie Pupil 34 0.053
130
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.053
131
SCH068 Schwartz-Jampel Syndrome, Type 1 32 0.053
132
c PRX055 Peroxisome Biogenesis Disorder 11a 32 0.053
133
RGH009 Right Atrial Isomerism 32 0.053
134
CRN246 Cranioosteoarthropathy 31 0.053
135
ACR016 Acromesomelic Dysplasia 31 0.053
136
c PRX060 Peroxisome Biogenesis Disorder 5a 28 0.053
137
c PRX065 Peroxisome Biogenesis Disorder 3a 28 0.053
138
c PRX063 Peroxisome Biogenesis Disorder 2a 27 0.053
139
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.053
140
c PRX061 Peroxisome Biogenesis Disorder 8a, 25 0.053
141
c PRX054 Peroxisome Biogenesis Disorder 12a 25 0.053
142
P PRX051 Peroxisome Biogenesis Disorder 6a 25 0.053
143
c PRX046 Peroxisome Biogenesis Disorder 7a 24 0.053
144
c PRX048 Peroxisome Biogenesis Disorder 10a 24 0.053
145
c PRX052 Peroxisome Biogenesis Disorder 13a 24 0.053
146
KYP002 Kyphomelic Dysplasia 23 0.053
147
AND005 Androgen Insensitivity Syndrome, Mild 16 0.053
148
MSM003 Mesomelia 15 0.053
149
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.038
150
INS024 Insulin-Like Growth Factor I 74 0.038
151
TTR001 Tetralogy of Fallot 71 0.038
152
P NRV007 Nervous System Disease 71 0.038
153
P MTC003 Metachromatic Leukodystrophy 71 0.038
154
SKN016 Skin Disease 68 0.038
155
P MYP004 Myopathy 67 0.038
156
BLD087 Bladder Cancer, Somatic 67 0.038
157
P HYD006 Hydrocephalus 67 0.038
158
KPS004 Kaposi Sarcoma 66 0.038
159
c HRD010 Hereditary Spastic Paraplegia 65 0.038
160
P DYS154 Dystonia 64 0.038
161
P DYS007 Dyskeratosis Congenita 63 0.038
162
PNC041 Pancreatic Ductal Adenocarcinoma 63 0.038
163
c SPN225 Spondyloarthropathy 1 63 0.038
164
RCT015 Reactive Arthritis 62 0.038
165
CNT047 Contact Dermatitis 62 0.038
166
c MCP009 Mucopolysaccharidosis Ii 62 0.038
167
c MCP024 Mucopolysaccharidosis Type Vi 61 0.038
168
CHR063 Chronic Mucocutaneous Candidiasis 61 0.038
169
P ALP009 Alopecia Areata 61 0.038
170
P SPN052 Spondyloarthropathy 60 0.038
171
P NRP001 Neuropathy 60 0.038
172
INC021 Incontinentia Pigmenti 60 0.038
173
P PRT013 Portal Hypertension 59 0.038
174
P UVT001 Uveitis 59 0.038
175
OST017 Osteomyelitis 59 0.038
176
CLT003 Colitis 59 0.038
177
LRN004 Laron Dwarfism 59 0.038
178
P NTR004 Neutropenia 59 0.038
179
c SYS004 Systemic Mastocytosis 59 0.038
180
P MRT001 Muir-Torre Syndrome 58 0.038
181
LYM021 Lymphadenitis 58 0.038
182
P LKD001 Leukodystrophy 58 0.038
183
BRN012 Bronchiolitis Obliterans 58 0.038
184
ALP001 Alopecia Universalis 57 0.038
185
RHM027 Rheumatic Disease 57 0.038
186
ALL010 Allergic Contact Dermatitis 57 0.038
187
HMR004 Hemorrhagic Fever with Renal Syndrome 57 0.038
188
c MCP001 Mucopolysaccharidosis Iii 57 0.038
189
ABL002 Ablepharon-Macrostomia Syndrome 57 0.038
190
HYP042 Hypochondroplasia 57 0.038
191
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.038
192
JNT002 Joint Disorders 56 0.038
193
c HYP615 Hyperparathyroidism, Familial Primary 55 0.038
194
DMY004 Demyelinating Disease 55 0.038
195
PRL032 Perlman Syndrome 55 0.038
196
P HST010 Histiocytosis 55 0.038
197
P MNC007 Monocytic Leukemia 55 0.038
198
LKN001 Leukoencephalopathy with Vanishing White Matter 54 0.038
199
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.038
200
PLM012 Pulmonary Sarcoidosis 54 0.038
201
LTT002 Letterer-Siwe Disease 54 0.038
202
PTT046 Pituitary Hormone Deficiency, Combined, 2 53 0.038
203
ECH003 Echinococcosis 53 0.038
204
P ATX004 Ataxia 53 0.038
205
P GND004 Gonadal Dysgenesis 53 0.038
206
NTH001 Netherton Syndrome 52 0.038
207
PNM008 Pneumothorax 52 0.038
208
OPT037 Optic Nerve Hypoplasia 52 0.038
209
P HYP024 Hypoparathyroidism 52 0.038
210
MCN007 Meconium Aspiration Syndrome 51 0.038
211
P MLT007 Multiple Epiphyseal Dysplasia 51 0.038
212
P PTT014 Pitt-Hopkins Syndrome 51 0.038
213
c OST080 Osteogenesis Imperfecta, Type Ii 51 0.038
214
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.038
215
c INF067 Inflammatory Bowel Disease 10 51 0.038
216
P EPD003 Epidermolysis Bullosa Simplex 51 0.038
217
c PRX045 Peroxisome Biogenesis Disorder 1b 51 0.038
218
PRP016 Paraplegia 49 0.038
219
CYT005 Cytomegalovirus Retinitis 49 0.038
220
P SCL015 Scleritis 49 0.038
221
P EPD002 Epidermolytic Hyperkeratosis 49 0.038
222
P GNT008 Giant Cell Tumor 49 0.038
223
MLL012 Miller Syndrome 49 0.038
224
P PCH015 Pachyonychia Congenita 1 49 0.038
225
ACR013 Acrodysostosis 49 0.038
226
MCL002 Macular Corneal Dystrophy 49 0.038
227
c HTR008 Heterotaxy, Visceral, 5 48 0.038
228
HYP063 Hypersplenism 48 0.038
229
ADR038 Adermatoglyphia 48 0.038
230
P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 48 0.038
231
PGM001 Pigmented Villonodular Synovitis 48 0.038
232
P FBR025 Fibrochondrogenesis 48 0.038
233
P PLM006 Pulmonary Alveolar Proteinosis 48 0.038
234
c PSD066 Pseudohypoparathyroidism, Type Ib 47 0.038
235
PLY012 Polyhydramnios 47 0.038
236
ECT006 Ectodermal Dysplasia 47 0.038
237
c HRD026 Hereditary Ataxia 47 0.038
238
MLT113 Multicentric Castleman Disease 47 0.038
239
P SPN250 Spondyloepimetaphyseal Dysplasia 47 0.038
240
NTR003 Natural Killer Cell Leukemia 47 0.038
241
BNN003 Bone Inflammation Disease 46 0.038
242
P MRD002 Marden-Walker Syndrome 46 0.038
243
HDR003 Hidradenitis 46 0.038
244
MLT016 Multicentric Reticulohistiocytosis 46 0.038
245
DPN005 Du Pan Syndrome 45 0.038
246
SDC002 Sed Congenita 45 0.038
247
c PST005 Posterior Uveitis 45 0.038
248
P OVR106 Ovarian Clear Cell Carcinoma 45 0.038
249
NSH001 Nasu-Hakola Disease 45 0.038
250
P PSD015 Pseudohypoparathyroidism 44 0.038
251
HYD012 Hydrops Fetalis 44 0.038
252
ENC044 Enchondromatosis, Multiple, Ollier Type 44 0.038
253
DSC009 Discoid Lupus Erythematosus 44 0.038
254
P ICH001 Ichthyosis Vulgaris 44 0.038
255
EXS001 Exostosis 44 0.038
256
OCL001 Ocular Albinism 43 0.038
257
ALB002 Albinism 43 0.038
258
STP004 Staphylococcal Toxic Shock Syndrome 43 0.038
259
BRT030 Birth Defects 43 0.038
260
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 42 0.038
261
P DNT011 Dentinogenesis Imperfecta 42 0.038
262
OPP002 Opportunistic Mycosis 42 0.038
263
BLN001 Blount's Disease 42 0.038
264
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 42 0.038
265
EYL005 Eyelid Disease 42 0.038
266
SPN119 Spondylarthropathy 41 0.038
267
c CHR576 Chronic Beryllium Disease 41 0.038
268
c ATM022 Autoimmune Myocarditis 41 0.038
269
CRT004 Carotid Artery Thrombosis 41 0.038
270
BDY001 Body Dysmorphic Disorder 41 0.038
271
CRN025 Corneal Dystrophy 41 0.038
272
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 41 0.038
273
MSM001 Meesmann Corneal Dystrophy 41 0.038
274
HST016 Histiocytic Sarcoma 40 0.038
275
MHR001 Mohr-Tranebjaerg Syndrome 40 0.038
276
HYP070 Hyperpituitarism 40 0.038
277
MCR225 Macrophage Activation Syndrome 40 0.038
278
SXD001 Sex Differentiation Disease 40 0.038
279
DND018 Dendritic Cell Tumor 40 0.038
280
PSD009 Pseudohermaphroditism 40 0.038
281
RHM009 Rheumatoid Lung Disease 40 0.038
282
MLT018 Multiple Carboxylase Deficiency 40 0.038
283
JWC001 Jaw Cancer 39 0.038
284
BLP004 Blepharophimosis 39 0.038
285
SML004 Small Intestine Neuroendocrine Neoplasm 39 0.038
286
c BRC081 Brachydactyly, Type C 39 0.038
287
DXT002 Dextrocardia with Situs Inversus 38 0.038
288
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.038
289
CRB009 Cerebritis 38 0.038
290
PRX001 Peroxisomal Disease 38 0.038
291
NNL001 Non-Langerhans-Cell Histiocytosis 37 0.038
292
FRY002 Fryns Syndrome 36 0.038
293
LNG004 Langerhans Cell Sarcoma 36 0.038
294
SPN060 Spondylocarpotarsal Synostosis Syndrome 35 0.038
295
c ICH041 Ichthyosis, Autosomal Recessive 4b 35 0.038
296
SLP010 Slipped Capital Femoral Epiphysis 35 0.038
297
EPD065 Epidermolytic Ichthyosis 35 0.038
298
CND006 Candida Glabrata 34 0.038
299
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 0.038
300
HDG003 Hodgkin's Lymphoma, Lymphocytic Depletion 33 0.038
301
TNS001 Tenosynovial Giant Cell Tumor 33 0.038
302
INT038 Interdigitating Dendritic Cell Sarcoma 33 0.038
303
MND001 Mandibular Cancer 32 0.038
304
OHD004 Ohdo Syndrome 32 0.038
305
c EPP017 Epiphyseal Dysplasia, Multiple, 1 32 0.038
306
OPS002 Opsismodysplasia 32 0.038
307
GRN003 Granulomatous Dermatitis 31 0.038
308
P OMD003 Omodysplasia 31 0.038
309
BWN006 Bowen's Disease 31 0.038
310
FLM001 Filamentary Keratitis 30 0.038
311
BRN021 Brain Sarcoma 30 0.038
312
MTT002 Metatropic Dysplasia 30 0.038
313
SDD003 Saddan 30 0.038
314
CSN001 Cousin Syndrome 28 0.038
315
TRC006 Trichosporonosis 28 0.038
316
c JVN024 Juvenile Hereditary Hemochromatosis 28 0.038
317
CRN273 Corneal Dystrophy, Subepithelial Mucinous 28 0.038
318
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 27 0.038
319
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 0.038
320
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.038
321
c EPP013 Epiphyseal Dysplasia, Multiple, 5 26 0.038
322
c ICH014 Ichthyosis Lamellar 1 26 0.038
323
P CHL106 Childhood Ataxia with Central Nervous System Hypomyelination/vanishing White Matter 25 0.038
324
c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 25 0.038
325
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 24 0.038
326
SBB001 Sbbyss Syndrome 24 0.038
327
c DSB005 Desbuquois Dysplasia 2 23 0.038
328
HST008 Histiocytic and Dendritic Cell Cancer 23 0.038
329
EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 23 0.038
330
CVR001 Cavernous Sinus Meningioma 22 0.038
331
TRC037 Tracheobronchomalacia 22 0.038
332
MSL005 Mseleni Joint Disease 19 0.038
333
SHR096 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 17 0.038
334
SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 16 0.038
335
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 16 0.038
336
OSB001 Osebold-Remondini Syndrome 16 0.038
337
c TYP019 Type Ii Collagenopathies 12 0.038
338
AST010 Astley-Kendall Syndrome 12 0.038
339
EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 11 0.038
340
ALK005 Alk+ Histiocytosis 11 0.038
341
EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 10 0.038
342
DPP001 Dappled Diaphyseal Dysplasia 5 0.038
343
MRT005 Maroteaux Stanescu Cousin Syndrome 2 0.038