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metaphyseal chondrodysplasia jansen type - rare bone disorder affecting joints and extremities
Definition for metaphyseal chondrodysplasia Jansen type
Jansen's Metaphyseal Chondrodysplasia or JMC is a disease of the parathyroid hormone receptors. It causes short stature, with normal epiphyseal plates but disorganized metaphyseal regions.
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Jansen's Metaphyseal Chondrodysplasia or JMC is a disease of the parathyroid hormone receptors. It causes short stature, with normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (Elevated levels of calcium in the blood) is often associated with Jansen's, but is not necessarily indicative of JMC. Physical irregularities often associated with Jansen's include: prominent or protruding eyes, a high arched palate, micrognathia or abnormal smallness of the jaws - particularly the lower (mandible) jaw, choanal stenosis, wide cranial sutures and irregular formation of the long bones which can resemble rickets.
less
some common symptoms
arm(s) and or leg(s) deformed
face deformities
short limbs
short stature
some related diagnoses
1 - 7 of
11
diagnoses
thalassemia intermedia
enchondromatosis
malabsorption
celiac disease
renal tubular acidosis distal
osteogenesis imperfecta types III and IV
hypophosphatasia
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do i have 'metaphyseal chondrodysplasia Jansen type'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'metaphyseal chondrodysplasia jansen type'
1 - 5 of
21
diagnostic tests
Molecular Genetic Studies
metaphyseal chondrodysplasia Jansen type and Molecular Genetic Studies
Skeletal radiograph survey
metaphyseal chondrodysplasia Jansen type and Skeletal radiograph survey
X-ray skull
metaphyseal chondrodysplasia Jansen type and X-ray skull
X-ray spine
metaphyseal chondrodysplasia Jansen type and X-ray spine
Hearing test
standard technique of representing hearing loss
metaphyseal chondrodysplasia Jansen type and Hearing test
Serum Parathyroid hormone (PTH)
metaphyseal chondrodysplasia Jansen type and Serum Parathyroid hormone (PTH)
Serum calcium
metaphyseal chondrodysplasia Jansen type and Serum calcium
24-hour urine phosphate
metaphyseal chondrodysplasia Jansen type and 24-hour urine phosphate
urinary cAMP
metaphyseal chondrodysplasia Jansen type and urinary cAMP
Ultrasonography kidneys ureter bladder
metaphyseal chondrodysplasia Jansen type and Ultrasonography kidneys ureter bladder
vision tests
metaphyseal chondrodysplasia Jansen type and vision tests
Complete Blood Count
metaphyseal chondrodysplasia Jansen type and Complete Blood Count
ECHOcardiogram
metaphyseal chondrodysplasia Jansen type and ECHOcardiogram
EEG - Electroencephalogram
metaphyseal chondrodysplasia Jansen type and EEG - Electroencephalogram
EKG
Electrocardiogram
metaphyseal chondrodysplasia Jansen type and EKG
Liver Function Tests
elevated liver enzymes
metaphyseal chondrodysplasia Jansen type and Liver Function Tests
Total serum protein
metaphyseal chondrodysplasia Jansen type and Total serum protein
serum immunoglobulins
metaphyseal chondrodysplasia Jansen type and serum immunoglobulins
Urinary electrolytes
metaphyseal chondrodysplasia Jansen type and Urinary electrolytes
X-rays
metaphyseal chondrodysplasia Jansen type and X-rays
speech reception threshold (SRT)
metaphyseal chondrodysplasia Jansen type and speech reception threshold (SRT)
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therapeutic procedures for 'metaphyseal chondrodysplasia Jansen type'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for metaphyseal chondrodysplasia Jansen type:
therapeutic procedure search results for 'metaphyseal chondrodysplasia jansen type'
1 - 1 of
1
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Orthopedic surgical care
metaphyseal chondrodysplasia Jansen type and Orthopedic surgical care
medications search results for 'metaphyseal chondrodysplasia jansen type'
rankings are computer generated. please consult your health care provider.
web search results for metaphyseal chondrodysplasia jansen type
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Results
1 - 50
- metaphyseal chondrodysplasia Jansen type
A constitutively active mutant PTH-PTHrP receptor in Jansen-type ...
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. ... patient with Jansen-type metaphyseal chondrodysplasia, which ...
http://www.ncbi.nlm.nih.gov/pubmed/7701349
www.ncbi.nlm.nih.gov
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Orphanet: Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Jansen type. Orpha number. ORPHA33067. Prevalence of rare diseases ... Jansen's metaphyseal chondrodysplasia (JMC) is a rare ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=33067
www.orpha.net
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Jansen's metaphyseal chondrodysplasia - Wikipedia, the free encyclopedia
Jansen Type Metaphyseal Chondrodysplasia -- National Organization for Rare Disorders (NORD) ... METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE GenomeNet ...
http://en.wikipedia.org/wiki/Jansen's_metaphyseal_chondrodysplasia
en.wikipedia.org
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Schmid metaphyseal chondrodysplasia - Wikipedia, the free encyclopedia
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients" ... Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ...
http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia
en.wikipedia.org
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Orphanet: Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Schmid type. Orpha number. ORPHA174 ... (such as cartilage-hair hypoplasia or Jansen type metaphyseal chondrodysplasia; ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=174
www.orpha.net
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Rhizomelic Chondrodysplasia Punctata Type 1 -- GeneReviews -- NCBI ...
... in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia ... J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rcdp
www.ncbi.nlm.nih.gov
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Encyclopedia J-Jz on Yahoo! Health
Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative ... Jansen Type Metaphyseal Chondrodysplasia. Jarcho Levin Syndrome ...
http://health.yahoo.com/ency/j/
health.yahoo.com
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Rhizomelic Chondrodysplasia Punctata Type 1
epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts ... Jansen GA, Waterham HR, Wanders RJ. Identification of PEX7 as ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Jansen Type Metaphyseal Chondrodysplasia ...
http://www.webmd.com/a-to-z-guides/health-topics/ja-je.htm
www.webmd.com
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Osteochondrodysplasia - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ... Achondrogenesis (type 2) ˇ Hypochondrogenesis. SLC26A2 sulfation defect ...
http://en.wikipedia.org/wiki/Osteochondrodysplasia
en.wikipedia.org
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156400
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=156400
www.ncbi.nlm.nih.gov
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Osteochondrodysplasias: Bone and Connective Tissue Disorders in ...
Peroxisomal type 2 targeting signal receptor (PTS2) ... Metaphyseal chondrodysplasia.? In some forms, malabsorption, neutropenia, thymolymphopenia ...
http://www.merck.com/mmpe/print/sec19/ch284/ch284k.html
www.merck.com
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PTHR1 - NextBio
PTHR1: The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a ... Jansen's metaphyseal ...
http://www.nextbio.com/b/home/home.nb?q=PTHR1
www.nextbio.com
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Atelosteogenesis, type II - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid metaphyseal chondrodysplasia ... Achondrogenesis (type 2) ˇ Hypochondrogenesis. SLC26A2 ...
http://en.wikipedia.org/wiki/Atelosteogenesis,_type_II
en.wikipedia.org
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MIM Gene map
Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3);Enchondromatosis, Ollier type, 166000 ... type I, 230500 (3); GM1-gangliosidosis, type II, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l156400
www.ncbi.nlm.nih.gov
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Osteochondrodysplasias: Bone and Connective Tissue Disorders in ...
Peroxisomal type 2 targeting signal receptor (PTS2) ... Metaphyseal chondrodysplasia.? In some forms, malabsorption, neutropenia, thymolymphopenia ...
http://www.merck.com/mmpe/sec19/ch284/ch284k.html
www.merck.com
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MIM Gene map
Activin A receptor, type IIB. 602730. Heterotaxy, visceral, ... Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3);Enchondromatosis, Ollier type, ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l190182
www.ncbi.nlm.nih.gov
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Jansen Type Metaphyseal Chondrodysplasia - Yahoo! Health
Important It is possible that the main title of the report Jansen Type Metaphyseal Chondrodysplasia is not the name you expected. Please check the synonyms listing ...
http://health.yahoo.com/children-resources/jansen-type-metap...
health.yahoo.com
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2006 ...
... minirin 4 0.01% mucolipidosis type 3 4 0.01% mucopolisacaridosis tipo ... myopathie mitochondriale 3 0.01% myopathie type nonaka 3 0.01% naevus géant 3 ...
http://orphanet.orpha.net/stat/orphanet/search_200606.html
orphanet.orpha.net
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The parathyroid glands and vitamin D -- Endocrinology -- NCBI Bookshelf
Search for. Within This book All books PubMed ... Metastases and myeloma ? secreting osteoclast ... Jansen-type metaphyseal chondrodysplasia. Footnotes ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=endocrin&...
www.ncbi.nlm.nih.gov
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Constitutively activated receptors for parathyroid hormone and ...
... radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe ... metaphyseal changes in patients with Jansen's disease. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/8703170
www.ncbi.nlm.nih.gov
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Jansen's metaphyseal chondrodysplasia
Jansen type of metaphyseal chondrodysplasia: conformation of dominant inheritance and review ... (1997) Jansen-type. metaphyseal chondrodysplasia: analysis of ...
http://www.orpha.net/data/patho/GB/uk-JansensMetaphChondrodysplasia.pdf
www.orpha.net
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Search Results
Did you mean: Jansen's metaphyseal chondrodysplasia (unico) Search Tips. 24 results ... ma mc me mi mo mp mr ms mu my Type in the first few letters of a word to get ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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AceView: gene:PTHR1, a comprehensive annotation of human, mouse and ...
... Kidney Neoplasms; Lung Neoplasms; metaphyseal chondrodysplasia, jansen type; Metaphyseal chondrodysplasia, Murk Jansen type and 3 others), proposed to ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=PTHR1
www.ncbi.nlm.nih.gov
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OMIM Update List for March, 2004
Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE ... 605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE. 605982 FAMILIAL WILMS TUMOR 2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2004
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juillet ...
... bulleuse 13 0.04% pfeiffer syndrome type 2 13 0.04% porphyrie 13 0.04 ... cyst 5 0.02% chondrodysplasia punctata 5 0.02% choroideremie 5 0.02% cloverleaf ...
http://orphanet.orpha.net/stat/orphanet/search_200607.html
orphanet.orpha.net
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OMIM Update List for June, 2001
Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE. June 26, 2001 ... METAPHYSEAL ACROSCYPHODYSPLASIA. 250300 METAPHYSEAL CHONDRODYSPLASIA, ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2001
www.ncbi.nlm.nih.gov
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PMID 10487664
... PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. ... in cells expressing the wild-type receptor despite impaired surface expression ...
http://www.ncbi.nlm.nih.gov/pubmed/10487664
www.ncbi.nlm.nih.gov
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PMID 12357475
... and type I collagen mutations, Jansen metaphyseal chondrodysplasia and ... J Med Genet 7708900 0 Collagen Type I 0 Receptors, Fibroblast Growth Factor EC ...
http://www.ncbi.nlm.nih.gov/pubmed/12357475
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Mars 2007 ...
... 13 0.02% cetoacidose 13 0.02% chondrodysplasia punctata 13 0.02% collagenous ... bowen-conradi syndrome 5 0.01% brachydactyly type d 5 0.01% brugada syndrome ekg ...
http://orphanet.orpha.net/stat/orphanet/search_200703.html
orphanet.orpha.net
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Octobre ...
... hemorragias file type:ppt 7 0.01% hidranencefalia 7 0.01% hipoplasia adrenal ... 0.01% jampel 3 0.01% jansen's metaphyseal chondrodysplasia 3 0.01% journal angle: ...
http://orphanet.orpha.net/stat/orphanet/search_200710.html
orphanet.orpha.net
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2006 ...
... 0.02% charge association 9 0.02% chondrodysplasia punctata 9 0.02% cistinuria 9 ... mucopolysaccharidose 3 0.01% mucopolysaccharidosis type 1 3 0.01% muenke ...
http://www.orpha.net/stat/orphanet/search_200604.html
www.orpha.net
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OMIM Update List for January, 1997
253700 MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 2C; LGMD2C ... X-LINKED NONSPECIFIC, TYPE 1; MRX1 ... 156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.1997
www.ncbi.nlm.nih.gov
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OMIM Update List for January, 1998
156400 METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE ... 310300 MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.1998
www.ncbi.nlm.nih.gov
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Parathyroid hormone receptor 1 - Wikipedia, the free encyclopedia
... Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type ... active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. ...
http://en.wikipedia.org/wiki/Parathyroid_hormone_receptor_1
en.wikipedia.org
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Aout 2006 ...
... fibrosis pulmonar 11 0.03% gitelman 11 0.03% glycogen storage disease type 1a ... 9 0.02% chondrodysplasia punctata 9 0.02% collagenous colitis more: ...
http://www.orpha.net/stat/orphanet/search_200608.html
www.orpha.net
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OMIM Update List for January, 2001
602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib ... 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE. 168468 PARATHYROID HORMONE RECEPTOR 1; PTHR1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?1.2001
www.ncbi.nlm.nih.gov
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OMIM Update List for March, 2005
Clinical Synopsis for 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD ... Clinical Synopsis for 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE. March 10, 2005 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2005
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ...
tumeur stromale 5 0.01% type 4 hyperlipidemia 5 0.01% types of biliary atresia 5 ... 3 0.01% iperinsulinismo 3 0.01% iris depigmentation 3 0.01% jansen metaphyseal ...
http://www.orpha.net/stat/orphanet/search_200609.html
www.orpha.net
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Metaphyseal chondrodysplasia, Jansen type (search)
http://www.nextbio.com/b/home/generalSearch.nb?q=Metaphyseal...
www.nextbio.com
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Camurati-Engelmann disease - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ... Achondrogenesis (type 2) ˇ Hypochondrogenesis. SLC26A2 sulfation defect ...
http://en.wikipedia.org/wiki/Camurati-Engelmann_disease
en.wikipedia.org
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Fevrier ...
... camptodactilia 20 0.03% carcinoma papillare 20 0.03% chondrodysplasia punctata ... hyperglycinemia 5 0.01% hyperlipidemia type 4 5 0.01% hypertrichosis lanuginosa ...
http://www.orpha.net/stat/orphanet/search_200702.html
www.orpha.net
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The parathyroid glands and vitamin D -- Endocrinology -- NCBI Bookshelf
... rare, dominantly inherited condition Jansen-type metaphyseal chondrodysplasia. ... Type 2 vitamin D resistance, otherwise known as hereditary vitamin D resistant ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=endocrin&part=A742
www.ncbi.nlm.nih.gov
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Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Septembre ...
... ventricle 9 0.01% ichtyose congénitale type foetus arlequin 9 0.01% infeccion ... 8 0.01% chondrodysplasia punctata 8 0.01% chordome 8 0.01% cicatrizacion anormal ...
http://www.orpha.net/stat/orphanet/search_200709.html
www.orpha.net
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Engelmann syndrome - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ... Achondrogenesis (type 2) ˇ Hypochondrogenesis. SLC26A2 sulfation defect ...
http://en.wikipedia.org/wiki/Engelmann_syndrome
en.wikipedia.org
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health.yahoo.com/other-other/
jansen
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http://health.yahoo.com/other-other/jansen-type-metaphyseal-...
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Metaphyseal chondrodysplasia, Jansen type
http://www.nextbio.com/b/home/home.nb?q=Metaphyseal+chondrod...
www.nextbio.com
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PMID 10564229
F665-75 The type 1 receptor (PTH1R) for parathyroid hormone (PTH) and ... active PTH1Rs in patients with Jansen's metaphyseal chondrodysplasia, the ...
http://www.ncbi.nlm.nih.gov/pubmed/10564229
www.ncbi.nlm.nih.gov
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Hypochondrogenesis - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ... COL2: Hypochondrogenesis ˇ Achondrogenesis type 2 ˇ Stickler syndrome ˇ Marshall ...
http://en.wikipedia.org/wiki/Hypochondrogenesis
en.wikipedia.org
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McCune-Albright syndrome - Wikipedia, the free encyclopedia
Metaphyseal dysplasia ˇ Jansen's metaphyseal chondrodysplasia ˇ Schmid ... Achondrogenesis (type 2) ˇ Hypochondrogenesis. SLC26A2 sulfation defect ...
http://en.wikipedia.org/wiki/McCune-Albright_syndrome
en.wikipedia.org
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