Terminology Service for NFDI4Health

Osteochondrodysplasias

Go to external page http://purl.bioontology.org/ontology/MESH/D010009


Abnormal development of cartilage and bone.

Term info

Label

Osteochondrodysplasias

Synonyms
  • Chondrodystrophic Myotonia
  • Chondrodystrophie, myotone (DE)
  • Chondrodystrophische Myotonie (DE)
  • Chondrodystrophy, Myotonic
  • Dyschondroplasia
  • Dyschondroplasias
  • Dyschondroplasien (DE)
  • Dysplasia, Spondyloepiphyseal
  • Endosteal Hyperostosis, Autosomal Recessive
  • Hyperostosis Corticalis Generalisata
  • Hyperostosis corticalis generalisata (DE)
  • Hyperphosphatasemia Tarda
  • Late Onset Spondyloepiphyseal Dysplasia
  • Late Spondyloepiphyseal Dysplasia
  • Late-Onset Spondyloepiphyseal Dysplasia
  • Melnick Needles Osteodysplasty
  • Melnick Needles Syndrome
  • Melnick-Needles Osteodysplasty
  • Melnick-Needles Syndrome
  • Melnick-Needles-Syndrom (DE)
  • Multiple Epiphyseal Dysplasia
  • Multiple epiphysäre Dysplasie (DE)
  • Myotone Chondrodystrophie (DE)
  • Myotonia, Chondrodystrophic
  • Myotonic Chondrodystrophy
  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
  • Osteochondrodysplasia
  • Osteochondrodysplasien (DE)
  • Osteodysplasty of Melnick and Needles
  • Osteodysplasty, Melnick-Needles
  • SED Tarda
  • SED, X-Linked
  • SEDT, X-Linked
  • SJA Syndrome
  • Schwartz Jampel Aberfeld syndrome
  • Schwartz Jampel Syndrome
  • Schwartz Jampel Syndrome, Type 1
  • Schwartz-Jampel Syndrome
  • Schwartz-Jampel Syndrome, Type 1
  • Schwartz-Jampel-Aberfeld Syndrome
  • Schwartz-Jampel-Aberfeld-Syndrom (DE)
  • Schwartz-Jampel-Syndrom (DE)
  • Schwartz-Jampel-Syndrom, Typ 1 (DE)
  • Sost Sclerosing Bone Dysplasia
  • Sost-Related Sclerosing Bone Dysplasia
  • Spondylo-Epimetaphyseal Dysplasia With Myotonia
  • Spondyloepiphyseal Dysplasia
  • Spondyloepiphyseal Dysplasia Tarda, X Linked
  • Spondyloepiphyseal Dysplasia Tarda, X-Linked
  • Spondyloepiphyseal Dysplasia, Late
  • Spondyloepiphyseal Dysplasia, Late-Onset
  • Spondyloepiphysäre Dysplasie (DE)
  • Syndrome, Schwartz-Jampel-Aberfeld
  • Van Buchem Disease
  • X Linked SED
  • X Linked SEDT
  • X Linked Spondyloepiphyseal Dysplasia Tarda
  • X-Linked SED
  • X-Linked SEDT
  • X-Linked Spondyloepiphyseal Dysplasia Tarda
AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19850101

HN

85; DYSCHONDRODYSPLASIAS was heading DYSCHONDROPLASIA 1963-84; SPONDYLOEPIPHYSEAL DYSPLASIA was see MUCOPOLYSACCHARIDOSIS 4 1980-84, was see ECCENTROOSTEOCHONDRODYSPLASIA 1968-79

MDA

19840406

MMR

20150706

MN

C05.116.099.708, C16.320.728

OL

use OSTECHONDRODYSPLASIAS to search DYSCHONDROPLASIAS 1966-84; use MUCOPOLYSACCHARIDOSIS 4 to search SPONDYLOEPIPHYSEAL DYSPLASIA 1968-84

PM

85; DYSCHONDRODYSPLASIAS was heading DYSCHONDROPLASIA 1963-84; SPONDYLEPIPHYSEAL DYSPLASIA was see MUCOPOLYSACCHARIDOSIS 4 1980-84, was see ECCENTROOSTEOCHONDRODYSPLASIA 1968-79

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000151, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D017436, http://purl.bioontology.org/ontology/MESH/D007870, http://purl.bioontology.org/ontology/MESH/D009136, http://purl.bioontology.org/ontology/MESH/D019896, http://purl.bioontology.org/ontology/MESH/D025063, http://purl.bioontology.org/ontology/MESH/D066166, http://purl.bioontology.org/ontology/MESH/D058747, http://purl.bioontology.org/ontology/MESH/D010004, http://purl.bioontology.org/ontology/MESH/D000072661, http://purl.bioontology.org/ontology/MESH/D055947, http://purl.bioontology.org/ontology/MESH/D000312, http://purl.bioontology.org/ontology/MESH/D053840, http://purl.bioontology.org/ontology/MESH/D052159, http://purl.bioontology.org/ontology/MESH/D009800, http://purl.bioontology.org/ontology/MESH/D054179, http://purl.bioontology.org/ontology/MESH/D050174, http://purl.bioontology.org/ontology/MESH/D050010, http://purl.bioontology.org/ontology/MESH/D065768, http://purl.bioontology.org/ontology/MESH/D014898, http://purl.bioontology.org/ontology/MESH/D010013, http://purl.bioontology.org/ontology/MESH/D012873, http://purl.bioontology.org/ontology/MESH/D058631, http://purl.bioontology.org/ontology/MESH/D015785, http://purl.bioontology.org/ontology/MESH/D006453, http://purl.bioontology.org/ontology/MESH/D004392, http://purl.bioontology.org/ontology/MESH/D010015, http://purl.bioontology.org/ontology/MESH/D016715, http://purl.bioontology.org/ontology/MESH/D020294, http://purl.bioontology.org/ontology/MESH/D001478, http://purl.bioontology.org/ontology/MESH/D049970, http://purl.bioontology.org/ontology/MESH/D007619, http://purl.bioontology.org/ontology/MESH/D029502, http://purl.bioontology.org/ontology/MESH/D046589, http://purl.bioontology.org/ontology/MESH/D025861, http://purl.bioontology.org/ontology/MESH/D009958, http://purl.bioontology.org/ontology/MESH/D000745, http://purl.bioontology.org/ontology/MESH/D056660, http://purl.bioontology.org/ontology/MESH/D005877, http://purl.bioontology.org/ontology/MESH/D008382, http://purl.bioontology.org/ontology/MESH/D010381, http://purl.bioontology.org/ontology/MESH/D008661, http://purl.bioontology.org/ontology/MESH/D010985, http://purl.bioontology.org/ontology/MESH/D031845, http://purl.bioontology.org/ontology/MESH/D000071070, http://purl.bioontology.org/ontology/MESH/D024741, http://purl.bioontology.org/ontology/MESH/D004413, http://purl.bioontology.org/ontology/MESH/D053306, http://purl.bioontology.org/ontology/MESH/D056735, http://purl.bioontology.org/ontology/MESH/D000077428, http://purl.bioontology.org/ontology/MESH/D056731, http://purl.bioontology.org/ontology/MESH/D002636, http://purl.bioontology.org/ontology/MESH/D003966, http://purl.bioontology.org/ontology/MESH/D000699, http://purl.bioontology.org/ontology/MESH/D009386, http://purl.bioontology.org/ontology/MESH/D005660, http://purl.bioontology.org/ontology/MESH/D001260, http://purl.bioontology.org/ontology/MESH/D030981, http://purl.bioontology.org/ontology/MESH/D016738, http://purl.bioontology.org/ontology/MESH/D009261, http://purl.bioontology.org/ontology/MESH/D040181, http://purl.bioontology.org/ontology/MESH/D020271, http://purl.bioontology.org/ontology/MESH/D003550, http://purl.bioontology.org/ontology/MESH/D056685, http://purl.bioontology.org/ontology/MESH/D056684

TERMUI

T843034, T843033, T843032, T823209, T812375, T812376, T812377, T811888, T811889, T811885, T811886, T746297, T029631, T029630, T842473, T800717, T800716, T832210, T832211, T029629, T769544, T029628, T769543, T029627, T029626, T842778, T029625, T029624, T842776, T842475

TH

GHR (2014), ORD (2010), OMIM (2013), NLM (2011), UNK (19XX), NLM (2014), NLM (1985), NLM (2012)

cui

C0013366, C3541456, C4551479, C0026760, C0029422, C0038015, C0025237, C0432272, C0036391

hasSTY

http://purl.bioontology.org/ontology/STY/T047, http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C564922, http://purl.bioontology.org/ontology/MESH/C564923, http://purl.bioontology.org/ontology/MESH/C567639, http://purl.bioontology.org/ontology/MESH/C564003, http://purl.bioontology.org/ontology/MESH/C564010, http://purl.bioontology.org/ontology/MESH/C564252, http://purl.bioontology.org/ontology/MESH/C537556, http://purl.bioontology.org/ontology/MESH/C538089, http://purl.bioontology.org/ontology/MESH/C563825, http://purl.bioontology.org/ontology/MESH/C537557, http://purl.bioontology.org/ontology/MESH/C566659, http://purl.bioontology.org/ontology/MESH/C566658, http://purl.bioontology.org/ontology/MESH/C565452, http://purl.bioontology.org/ontology/MESH/C566660, http://purl.bioontology.org/ontology/MESH/C537564, http://purl.bioontology.org/ontology/MESH/C536472, http://purl.bioontology.org/ontology/MESH/C562968, http://purl.bioontology.org/ontology/MESH/C536557, http://purl.bioontology.org/ontology/MESH/C562963, http://purl.bioontology.org/ontology/MESH/C564589, http://purl.bioontology.org/ontology/MESH/C566644, http://purl.bioontology.org/ontology/MESH/C566523, http://purl.bioontology.org/ontology/MESH/C564101, http://purl.bioontology.org/ontology/MESH/C538064, http://purl.bioontology.org/ontology/MESH/C538180, http://purl.bioontology.org/ontology/MESH/C567065, http://purl.bioontology.org/ontology/MESH/C538181, http://purl.bioontology.org/ontology/MESH/C537099, http://purl.bioontology.org/ontology/MESH/C537098, http://purl.bioontology.org/ontology/MESH/C562958, http://purl.bioontology.org/ontology/MESH/C536329, http://purl.bioontology.org/ontology/MESH/C563803, http://purl.bioontology.org/ontology/MESH/C566515, http://purl.bioontology.org/ontology/MESH/C563007, http://purl.bioontology.org/ontology/MESH/C535915, http://purl.bioontology.org/ontology/MESH/C535916, http://purl.bioontology.org/ontology/MESH/C562398, http://purl.bioontology.org/ontology/MESH/C563124, http://purl.bioontology.org/ontology/MESH/C565551, http://purl.bioontology.org/ontology/MESH/C535481, http://purl.bioontology.org/ontology/MESH/C536573, http://purl.bioontology.org/ontology/MESH/C536935, http://purl.bioontology.org/ontology/MESH/C535967, http://purl.bioontology.org/ontology/MESH/C535726, http://purl.bioontology.org/ontology/MESH/C537349, http://purl.bioontology.org/ontology/MESH/C535964, http://purl.bioontology.org/ontology/MESH/C564725, http://purl.bioontology.org/ontology/MESH/C535609, http://purl.bioontology.org/ontology/MESH/C536140, http://purl.bioontology.org/ontology/MESH/C565382, http://purl.bioontology.org/ontology/MESH/C537356, http://purl.bioontology.org/ontology/MESH/C536025, http://purl.bioontology.org/ontology/MESH/C537355, http://purl.bioontology.org/ontology/MESH/C537352, http://purl.bioontology.org/ontology/MESH/C537351, http://purl.bioontology.org/ontology/MESH/C537354, http://purl.bioontology.org/ontology/MESH/C537353, http://purl.bioontology.org/ontology/MESH/C537914, http://purl.bioontology.org/ontology/MESH/C535858, http://purl.bioontology.org/ontology/MESH/C537915, http://purl.bioontology.org/ontology/MESH/C563869, http://purl.bioontology.org/ontology/MESH/C537119, http://purl.bioontology.org/ontology/MESH/C564714, http://purl.bioontology.org/ontology/MESH/C536949, http://purl.bioontology.org/ontology/MESH/C567545, http://purl.bioontology.org/ontology/MESH/C567664, http://purl.bioontology.org/ontology/MESH/C567552, http://purl.bioontology.org/ontology/MESH/C567551, http://purl.bioontology.org/ontology/MESH/C536393, http://purl.bioontology.org/ontology/MESH/C537121, http://purl.bioontology.org/ontology/MESH/C537122, http://purl.bioontology.org/ontology/MESH/C537569, http://purl.bioontology.org/ontology/MESH/C563736, http://purl.bioontology.org/ontology/MESH/C563735, http://purl.bioontology.org/ontology/MESH/C537207, http://purl.bioontology.org/ontology/MESH/C566574, http://purl.bioontology.org/ontology/MESH/C536123, http://purl.bioontology.org/ontology/MESH/C579878, http://purl.bioontology.org/ontology/MESH/C537577, http://purl.bioontology.org/ontology/MESH/C536120, http://purl.bioontology.org/ontology/MESH/C535395, http://purl.bioontology.org/ontology/MESH/C535396, http://purl.bioontology.org/ontology/MESH/C566319, http://purl.bioontology.org/ontology/MESH/C565349, http://purl.bioontology.org/ontology/MESH/C567644, http://purl.bioontology.org/ontology/MESH/C565585, http://purl.bioontology.org/ontology/MESH/C567771, http://purl.bioontology.org/ontology/MESH/C563291, http://purl.bioontology.org/ontology/MESH/C536252, http://purl.bioontology.org/ontology/MESH/C536739, http://purl.bioontology.org/ontology/MESH/C535766, http://purl.bioontology.org/ontology/MESH/C536977, http://purl.bioontology.org/ontology/MESH/C565855, http://purl.bioontology.org/ontology/MESH/C565179, http://purl.bioontology.org/ontology/MESH/C537157, http://purl.bioontology.org/ontology/MESH/C537038, http://purl.bioontology.org/ontology/MESH/C537274, http://purl.bioontology.org/ontology/MESH/C536065, http://purl.bioontology.org/ontology/MESH/C535658, http://purl.bioontology.org/ontology/MESH/C536627, http://purl.bioontology.org/ontology/MESH/C535659, http://purl.bioontology.org/ontology/MESH/C536629, http://purl.bioontology.org/ontology/MESH/C535776, http://purl.bioontology.org/ontology/MESH/C563664, http://purl.bioontology.org/ontology/MESH/C566811, http://purl.bioontology.org/ontology/MESH/C565046, http://purl.bioontology.org/ontology/MESH/C563420, http://purl.bioontology.org/ontology/MESH/C566380, http://purl.bioontology.org/ontology/MESH/C535782, http://purl.bioontology.org/ontology/MESH/C535783, http://purl.bioontology.org/ontology/MESH/C535784, http://purl.bioontology.org/ontology/MESH/C535785, http://purl.bioontology.org/ontology/MESH/C538256, http://purl.bioontology.org/ontology/MESH/C535504, http://purl.bioontology.org/ontology/MESH/C535505, http://purl.bioontology.org/ontology/MESH/C535501, http://purl.bioontology.org/ontology/MESH/C535502, http://purl.bioontology.org/ontology/MESH/C535866, http://purl.bioontology.org/ontology/MESH/C535503, http://purl.bioontology.org/ontology/MESH/C564621, http://purl.bioontology.org/ontology/MESH/C563772, http://purl.bioontology.org/ontology/MESH/C567578, http://purl.bioontology.org/ontology/MESH/C567577, http://purl.bioontology.org/ontology/MESH/C565398, http://purl.bioontology.org/ontology/MESH/C565399, http://purl.bioontology.org/ontology/MESH/C565285, http://purl.bioontology.org/ontology/MESH/C567340, http://purl.bioontology.org/ontology/MESH/C564611, http://purl.bioontology.org/ontology/MESH/C580241, http://purl.bioontology.org/ontology/MESH/C536050, http://purl.bioontology.org/ontology/MESH/C564185, http://purl.bioontology.org/ontology/MESH/C565395, http://purl.bioontology.org/ontology/MESH/C565271, http://purl.bioontology.org/ontology/MESH/C565150, http://purl.bioontology.org/ontology/MESH/C537267, http://purl.bioontology.org/ontology/MESH/C537869, http://purl.bioontology.org/ontology/MESH/C536538, http://purl.bioontology.org/ontology/MESH/C563914, http://purl.bioontology.org/ontology/MESH/C537502, http://purl.bioontology.org/ontology/MESH/C566507, http://purl.bioontology.org/ontology/MESH/C537746, http://purl.bioontology.org/ontology/MESH/C563478, http://purl.bioontology.org/ontology/MESH/C565898, http://purl.bioontology.org/ontology/MESH/C562940, http://purl.bioontology.org/ontology/MESH/C566622, http://purl.bioontology.org/ontology/MESH/C537510, http://purl.bioontology.org/ontology/MESH/C537873, http://purl.bioontology.org/ontology/MESH/C581628, http://purl.bioontology.org/ontology/MESH/C537076, http://purl.bioontology.org/ontology/MESH/C536540, http://purl.bioontology.org/ontology/MESH/C535572, http://purl.bioontology.org/ontology/MESH/C536429, http://purl.bioontology.org/ontology/MESH/C536428, http://purl.bioontology.org/ontology/MESH/C536666, http://purl.bioontology.org/ontology/MESH/C566735, http://purl.bioontology.org/ontology/MESH/C564797, http://purl.bioontology.org/ontology/MESH/C563348, http://purl.bioontology.org/ontology/MESH/C563589, http://purl.bioontology.org/ontology/MESH/C565400, http://purl.bioontology.org/ontology/MESH/C564796, http://purl.bioontology.org/ontology/MESH/C564554, http://purl.bioontology.org/ontology/MESH/C563586, http://purl.bioontology.org/ontology/MESH/C564794, http://purl.bioontology.org/ontology/MESH/C563472, http://purl.bioontology.org/ontology/MESH/C567275, http://purl.bioontology.org/ontology/MESH/C579928, http://purl.bioontology.org/ontology/MESH/C536434, http://purl.bioontology.org/ontology/MESH/C538179, http://purl.bioontology.org/ontology/MESH/C536671, http://purl.bioontology.org/ontology/MESH/C536517, http://purl.bioontology.org/ontology/MESH/C536637, http://purl.bioontology.org/ontology/MESH/C563218, http://purl.bioontology.org/ontology/MESH/C535786, http://purl.bioontology.org/ontology/MESH/C535787, http://purl.bioontology.org/ontology/MESH/C535788, http://purl.bioontology.org/ontology/MESH/C564307, http://purl.bioontology.org/ontology/MESH/C535789, http://purl.bioontology.org/ontology/MESH/C563330, http://purl.bioontology.org/ontology/MESH/C564543, http://purl.bioontology.org/ontology/MESH/C563574, http://purl.bioontology.org/ontology/MESH/C565080, http://purl.bioontology.org/ontology/MESH/C535793, http://purl.bioontology.org/ontology/MESH/C535794, http://purl.bioontology.org/ontology/MESH/C535795, http://purl.bioontology.org/ontology/MESH/C535796, http://purl.bioontology.org/ontology/MESH/C535791, http://purl.bioontology.org/ontology/MESH/C535792, http://purl.bioontology.org/ontology/MESH/C536527, http://purl.bioontology.org/ontology/MESH/C535797, http://purl.bioontology.org/ontology/MESH/C535798, http://purl.bioontology.org/ontology/MESH/C535799, http://purl.bioontology.org/ontology/MESH/C567128, http://purl.bioontology.org/ontology/MESH/C565740, http://purl.bioontology.org/ontology/MESH/C538271, http://purl.bioontology.org/ontology/MESH/C537501

tui

T019, T047