MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Chondrodysplasia Punctata

(UMLS:C0008445)

Definition:: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
UMLS ID:: C0008445
MeSH ID:: D002806

Classification:

Name:

Musculoskeletal Diseases
MeSH Tree Number(s):: C05.116.099.708.195

Synonym(s)

Chondrodysplasia Punctata

Chondrodysplasia Punctata (Stippled Epiphyses) Group

Chondrodysplasia calcificans

Chondrodysplasia calcificans congenita

Chondrodysplasia punctata

Chondrodysplasia punctata (stippled epiphyses) group

Chondrodysplasia punctata congenita

Chondrodysplasia punctata, NOS

calcificans congenita; chondrodysplasia

10.

chondrodysplasia punctata

11.

chondrodysplasia; calcificans congenita

12.

chondrodysplasia; punctata

13.

dysplasia; epiphysis, punctata

14.

dysplasia; punctata

15.

osteochondrodys w/ defects grow tubular bones&spine chondrodysplasia punctata

Associated Drug(s)

	Name	Reference(s)	Data Source
1	Warfarin	View details 920167 1121966 7359739 20922410	CTD
2	cholesta-5,8-dien-3 beta-ol	18176751	CTD
3	zymostenol	18176751	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Enchondromatosis	48.4%
2	Osteosclerosis	48.4%
3	Kashin-Beck Disease	48.4%
4	Melorheostosis	36%
5	Osteopetrosis	36%
6	Dysostoses	34.4%
7	Hyperostosis	25.4%
8	Osteitis	25.4%
9	Osteitis Deformans	25.4%
10	Osteochondrosis	25.4%
11	Spinal Diseases	25.4%
12	Osteogenesis Imperfecta	25%
13	Gigantism	24.8%
14	Osteoarthropathy, Secondary Hypertrophic	23%
15	Pectus excavatum	21.8%
16	Platybasia	21.7%
17	Dwarfism	18.6%
18	Bone Diseases, Endocrine	18.1%
19	Pectus carinatum	17.5%
20	Bone Diseases, Infectious	17.2%
21	Bone neoplasms	17.2%
22	Osteopenia	17.2%
23	Osteochondritis	17.1%
24	Bone Resorption	16.9%
25	Aseptic Necrosis of Bone	16.9%
26	Fasciitis	16.4%
27	Foot Deformities	16.4%
28	Arthropathy	16.4%
29	Klippel-Feil Syndrome	15.8%
30	Synostosis	15.8%
31	Spinal Neoplasms	14.9%
32	Spondylitis	14.9%
33	Ainhum	14.8%
34	Spinal Stenosis	14.8%
35	Spondylosis	14.8%
36	Intervertebral Disc Degeneration	14.8%
37	Craniofacial Dysostosis	13.8%
38	Congenital Hypothyroidism	12.8%
39	Contracture	11.5%
40	Fasciitis, Plantar	11.5%
41	Jaw Diseases	11.4%
42	Cartilage Diseases	10.8%
43	Foot Diseases	10.8%
44	Myopathy	10.8%
45	Rheumatism	10.8%
46	Chondromalacia	10.8%
47	Arthrogryposis	10.3%
48	Osteomyelitis	9.9%
49	Osteoporosis	9.9%
50	Periostitis	9.9%
51	Bone Demineralization, Pathologic	9.9%
52	Post-Traumatic Osteoporosis	9.9%
53	Alveolar Bone Loss	9.8%
54	Femur Head Necrosis	9.8%
55	Osteolysis	9.8%
56	Discitis	9.7%
57	Lordosis	9.7%
58	Spondylolysis	9.7%
59	kyphosis	9.7%
60	Craniosynostosis	8.9%
61	Syndactyly	8.9%
62	Brachycephaly	8.9%
63	Marfan Syndrome	8.8%
64	Fibromyalgia	8.5%
65	Polymyalgia Rheumatica	8.5%
66	Arthritis	8.5%
67	Bursitis	8.5%
68	Joint Instability	8.5%
69	Metatarsalgia	8.5%
70	Myofascial Pain Syndromes	8.5%
71	Rhabdomyolysis	8.5%
72	Synovitis	8.5%
73	Joint laxity	8.5%
74	Polyarthritis	8.5%
75	Frozen shoulder	8.5%
76	Patellofemoral Pain Syndrome	8.5%
77	Eosinophilic Granuloma	8.2%
78	Goldenhar Syndrome	8.1%
79	Mandibulofacial Dysostosis	8.1%
80	Tuberculosis, Spinal	7.7%
81	Basal Cell Nevus Syndrome	7.5%
82	Osteoarthritis, Spine	7.4%
83	Acrocephalosyndactylia	7.4%
84	Acromegaly	7.3%
85	Joint Tuberculosis	7.3%
86	Tuberculosis, Osteoarticular	7.3%
87	Bone Tuberculosis	7.3%
88	Antley-Bixler Syndrome Phenotype	7.3%
89	Spondylolisthesis	7.2%
90	Rubinstein-Taybi Syndrome	7%
91	Spondylarthropathies	7%
92	Poland Syndrome	6.8%
93	Rheumatic Fever	6.7%
94	Ankylosing spondylitis	6.6%
95	Cockayne Syndrome	6.6%
96	Hip Contracture	6.6%
97	Periarthritis	6.6%
98	Osteoporosis, Postmenopausal	6.5%
99	Gout	6.1%
100	Ischemic contracture	6%
101	Rickets	5.9%
102	Compartment syndromes	5.7%
103	Maxillary Diseases	5.7%
104	Tendinitis	5.7%
105	Tendinopathy	5.7%
106	Temporomandibular Joint Disorders	5.7%
107	Hemarthrosis	5.6%
108	Myositis	5.6%
109	Tietze's Syndrome	5.6%
110	Limb Deformities, Congenital	5.6%
111	Isaacs syndrome	5.6%
112	Craniofacial Abnormalities	5.6%
113	Myotonic Disorders	5.6%
114	Rheumatoid Arthritis	5.4%
115	Juvenile arthritis	5.4%
116	Osteoarthritis, Knee	5.4%
117	Arthritis, Psoriatic	5.3%
118	Bunion	4.9%
119	Fibrodysplasia Ossificans Progressiva	4.9%
120	Myoglobinuria	4.9%
121	Myositis Ossificans	4.9%
122	Pseudohypoparathyroidism	4.9%
123	Tenosynovitis	4.9%
124	Sacroiliitis	4.9%
125	Talipes	4.9%
126	Mastoiditis	4.8%
127	Petrositis	4.8%
128	Arthritis, Reactive	4.7%
129	Temporomandibular Joint Dysfunction Syndrome	4.5%
130	Medial Tibial Stress Syndrome	4.3%
131	Mitochondrial Myopathies	4.2%
132	Muscle Cramp	4.2%
133	Eosinophilia-Myalgia Syndrome	4.2%
134	Gastroschisis	4.2%
135	Muscle Rigidity	4.1%
136	Muscle Spasticity	4.1%
137	Cogwheel Rigidity	4.1%
138	Nuchal Rigidity	4.1%
139	Rheumatoid Nodule	4.1%
140	Osteomalacia	3.8%
141	Arthritis, Gouty	3.8%
142	Chronic Fatigue Syndrome	3.5%
143	Palatal Neoplasms	3.5%
144	Nail-Patella Syndrome	3.4%
145	Giant Cell Epulis	3.4%
146	Muscle Weakness	3.4%
147	Arthritis, Infectious	3.4%
148	Congenital clubfoot	3.4%
149	Vertical Talus	3.4%
150	Musculoskeletal Pain	3.3%
151	Jaw Abnormalities	3.3%
152	Familial Periodic Paralysis	3.3%
153	Anterior Compartment Syndrome	3.3%
154	Enthesopathy	3.3%
155	Arthritis, Experimental	3.3%
156	Abdominal Compartment Syndrome	3.3%
157	Arthralgia	3.3%
158	Polyarthralgia	3.3%
159	Felty Syndrome	3.3%
160	Amelia	3.3%
161	Arachnodactyly	3.3%
162	Ectromelia	3.3%
163	Hemimelia	3.3%
164	Phocomelia	3.3%
165	Sirenomelia	3.3%
166	Polymyositis	3.3%
167	Polydactyly	3.3%
168	Brachydactyly	3.3%
169	Plagiocephaly	3.3%
170	Lower Extremity Deformities, Congenital	3.3%
171	Upper Extremity Deformities, Congenital	3.3%
172	Laryngomalacia	2.9%
173	Myalgia	2.7%
174	Rheumatoid Vasculitis	2.7%
175	Prognathism	2.7%
176	Hip Dislocation	2.6%
177	Shoulder Dislocation	2.6%
178	Hip Dysplasia	2.6%
179	Nose Neoplasms	2.5%
180	Muscular Dystrophy	2.5%
181	Orbital Myositis	2.5%
182	Dupuytren Contracture	2.5%
183	Pyomyositis	2.5%
184	Renal Osteodystrophy	2.4%
185	Renal rickets	2.4%
186	Sicca Syndrome	2.3%
187	Sjogren's Syndrome	2.3%
188	Micrognathism	2.1%
189	Pierre Robin Syndrome	2.1%
190	Myotonic Dystrophy	2%
191	Maxillofacial Abnormalities	2%
192	Myotonia Congenita	2%
193	Bronchomalacia	2%
194	Tracheomalacia	2%
195	Microcephaly	1.9%
196	Macrocephaly	1.9%
197	Hypokalemic periodic paralysis	1.9%
198	Shoulder Pain	1.9%
199	Retrognathia	1.8%
200	Mitochondrial Encephalomyopathies	1.6%
201	Welander Distal Myopathy	1.6%
202	Cleft Palate	1.5%
203	Noonan Syndrome	1.4%
204	Dermatomyositis	1.3%
205	Muscular Dystrophy, Duchenne	1.3%
206	Porencephaly	1.3%
207	Holoprosencephaly	1.2%
208	Familial Hypophosphatemic Rickets	1.1%
209	Radicular Cyst	0.8%
210	MELAS Syndrome	0.6%
211	Kearns-Sayre syndrome	0.6%

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