sameAs
campomelic dysplasiaprogressive pseudorheumatoid arthropathy of childhoodhypochondroplasiametaphyseal dysplasiamultiple epiphyseal dysplasiaMeyer dysplasiahyperostosis frontalis internaDesbuquois dysplasiaPseudodiastrophic dysplasiathanatophoric dysplasiaacrocapitofemoral dysplasiaatelosteogenesisbrachyolmiaschneckenbecken dysplasiaacromesomelic dysplasiaspondyloepimetaphyseal dysplasiamesomeliaDiaphanospondylodysostosisWeissenbacher-Zweymüller syndromechondrodysplasiamicrocephalic osteodysplastic primordial dwarfism type IachondrogenesisfibrochondrogenesisSilverman-Handmaker type dyssegmental dysplasiadiastrophic dysplasiaomodysplasiaLéri–Weill dyschondrosteosisachondroplasiamidface dysplasiaacromeliaAl Gazali syndromeacheiropodyAcromicric dysplasiaasphyxiating thoracic dysplasiaBoomerang dysplasiaKashin–Beck diseaseCantú syndromechondrodysplasia Blomstrand typeChondrodystrophygeleophysic dysplasia
P279
Human genetic disorders and knockout mice deficient in glycosaminoglycanEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XWolcott-Rallison syndromeFrequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.[Madelung's deformity: a case report and review of the literature]Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin DysplasiasStudy of Infigratinib in Children With Achondroplasia
P921
Q1031536-F37C2B13-FB65-43F2-AD05-9D00E9B2C41AQ11825217-760CEE19-1EBA-4E22-B4F6-9309832EDF6FQ1283054-9B83D9CC-66C8-480C-A258-FFBF3B05FBEBQ13566985-EB7CAB3E-EEBD-46A4-ADC9-FF963153EEB5Q1452604-C972C2EB-36E2-42A1-82F5-2F93521BAB2BQ15834979-5feb1aaa-44a9-d44e-d3d1-eb75ac2ae33cQ1641052-354e9a5c-45f4-f4fd-656c-3d8015154196Q17122800-9198770E-43C3-448D-A297-33F4E44C5319Q17126997-669f818d-40cd-e387-bab2-bf07f4a5827eQ1787020-8B4CC89C-C822-4935-B1BE-08F8152EB927Q18553334-7FFE40B0-F35D-45B7-AAC4-1CE4D15D69DAQ18553377-D4888597-539A-4860-8D9D-673942363454Q18553406-D197EEFB-719A-4C04-AA89-B2609C135992Q18553466-D8F40B80-E881-419C-A1C3-C957386FB42CQ18553752-71832CF0-18A5-4D2C-93F1-D432B6D7E580Q18966185-E163F51F-D2BD-44D8-AC9C-EB89215DCE54Q19597858-9d9b56c1-4359-3ab6-220c-8c5815eee8a2Q22672486-e15bb3e2-4941-4ab0-8bf4-179e031429caQ2556531-9D0E0881-5F42-4ADB-9863-5298F2A9DB52Q26271752-5e26a74d-454f-2666-ddd0-4f0dcfa704d2Q27164419-3407ABAE-9533-4BFF-BD86-4830E26BE395Q2823145-D13C6273-61DD-4BD8-B941-808FA22A045DQ3071315-F90A079A-5A7F-4335-942D-9930DD57BEC7Q30989968-DEA8DAC0-2815-4D10-9070-7577F989C26FQ3335666-75AF8D87-F237-40BF-BFCB-6B6503AEA364Q3352097-63FBF0E6-EEA1-462F-BE83-197795ABB873Q3368713-0ABB3620-4501-4149-ACA5-B9197F7D92EDQ340594-722AEFA9-3180-4052-A219-0B877F09B1F9Q3725646-EFBCDACA-7DA0-471E-AAC5-5C044087D20EQ420833-2c5b4e5b-4c64-1c51-88cb-e3f12f8d6dc6Q42430488-8b7e984f-4399-d450-a820-e52d5f7e944cQ4673593-7B5C3C39-3A2B-4F00-A44B-AB8820424F58Q4676182-4dc35137-4967-265d-891a-b704fcc132f6Q4807981-1e83b044-4e23-639e-a7b9-c9571c9771beQ4943512-356F0A36-28BE-48C1-BACF-31176B18522FQ500314-7867b6b0-4f00-fd73-285e-a55751c5d0ecQ5034093-6f26b4c8-4f65-0ad3-71b2-68687007d810Q5104520-B15A456D-D03A-4D89-BEA0-5295EDDD5410Q5104522-29d50f9a-4411-0a58-b994-b0f94169cda7Q51097746-2552af25-4327-9043-aa99-1b7d5e0c54f0
P279
description
bone development disease that results in defective development of cartilage or bone
@en
disordine nello sviluppo (displasia) delle ossa (osteo) e della cartilagine (chondro)
@it
name
Skelettdysplasie
@de
osteochondrodysplasia
@en
osteocondrodisplasia
@es
osteocondrodisplasia
@it
osteocondrodisplàsia
@ca
osteokondrodisplasi
@eu
ostéochondrodysplasie
@fr
خلل تنسج عظمي غضروفي
@ar
骨軟骨發育不全
@zh
type
label
Skelettdysplasie
@de
osteochondrodysplasia
@en
osteocondrodisplasia
@es
osteocondrodisplasia
@it
osteocondrodisplàsia
@ca
osteokondrodisplasi
@eu
ostéochondrodysplasie
@fr
خلل تنسج عظمي غضروفي
@ar
骨軟骨發育不全
@zh
altLabel
Congenital anomaly of cartilage (disorder)
@en
Congenital anomaly of cartilage
@en
Osteochondrodysplasia syndrome (disorder)
@en
Osteochondrodysplasia syndrome
@en
Osteochondrodysplasie
@de
Ostéochondrodysplasies
@fr
Unspecified anomaly of cartilage (disorder)
@en
cartilage Development disorder
@en
chondrodystrophy
@en
displasia osea
@es
prefLabel
Skelettdysplasie
@de
osteochondrodysplasia
@en
osteocondrodisplasia
@es
osteocondrodisplasia
@it
osteocondrodisplàsia
@ca
osteokondrodisplasi
@eu
ostéochondrodysplasie
@fr
خلل تنسج عظمي غضروفي
@ar
骨軟骨發育不全
@zh
P2581
P486
P5806
P6366
P646
P1461
Osteochondrodystrophy
P1692
P1995
P2581
P2892
P31
P373
Osteochondrodysplasias
P3827
osteochondrodysplasias
P4229
P486
P492
P5806
P6366
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