Medical Subject Headings

Last uploaded: November 18, 2019
Preferred Name

Achondroplasia

Synonyms

Syndrome, Skeleton-Skin-Brain

Definitions

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

ID

http://purl.bioontology.org/ontology/MESH/D000130

altLabel

Syndrome, Skeleton-Skin-Brain

SADDAN Dysplasias

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

Dysplasias, SADDAN

Syndromes, Skeleton-Skin-Brain

SADDAN

Achondroplasias

SADDANs

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

SADDAN Dysplasia

Skeleton-Skin-Brain Syndrome

Skeleton-Skin-Brain Syndromes

Skeleton Skin Brain Syndrome

Dysplasia, SADDAN

AQL

BL CF CI CL 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

cui

C0001080

C2674173

DC

1

definition

An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

DX

19660101

FX

D051498

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D051498

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D058631

http://purl.bioontology.org/ontology/MESH/D002806

http://purl.bioontology.org/ontology/MESH/D020083

http://purl.bioontology.org/ontology/MESH/D056846

http://purl.bioontology.org/ontology/MESH/D003409

http://purl.bioontology.org/ontology/MESH/D004393

http://purl.bioontology.org/ontology/MESH/D004687

http://purl.bioontology.org/ontology/MESH/D006958

http://purl.bioontology.org/ontology/MESH/D012779

http://purl.bioontology.org/ontology/MESH/D056730

http://purl.bioontology.org/ontology/MESH/D010013

http://purl.bioontology.org/ontology/MESH/D006957

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D003966

http://purl.bioontology.org/ontology/MESH/D057767

http://purl.bioontology.org/ontology/MESH/D050336

http://purl.bioontology.org/ontology/MESH/D002973

http://purl.bioontology.org/ontology/MESH/D005357

http://purl.bioontology.org/ontology/MESH/D015826

http://purl.bioontology.org/ontology/MESH/D060048

http://purl.bioontology.org/ontology/MESH/D004613

http://purl.bioontology.org/ontology/MESH/D010026

http://purl.bioontology.org/ontology/MESH/D046150

http://purl.bioontology.org/ontology/MESH/D015831

Mapped from

http://purl.bioontology.org/ontology/MESH/C535820

http://purl.bioontology.org/ontology/MESH/C536019

http://purl.bioontology.org/ontology/MESH/C536016

http://purl.bioontology.org/ontology/MESH/C531599

http://purl.bioontology.org/ontology/MESH/C537794

http://purl.bioontology.org/ontology/MESH/C536020

http://purl.bioontology.org/ontology/MESH/C536018

http://purl.bioontology.org/ontology/MESH/C565984

http://purl.bioontology.org/ontology/MESH/C536015

http://purl.bioontology.org/ontology/MESH/C537999

http://purl.bioontology.org/ontology/MESH/C535819

http://purl.bioontology.org/ontology/MESH/C536017

MDA

19990101

MMR

20130708

MN

C05.116.099.343.110

C05.116.099.708.017

C16.320.240.500

notation

D000130

prefLabel

Achondroplasia

TERMUI

T842409

T774186

T000387

T774184

T823974

T809866

TH

NLM (1966)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T019

subClassOf

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D004392

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http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/SCTSPA/699870002 SCTSPA CUI
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_15 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/2715-2940 CRISP CUI
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD CUI
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4480 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
http://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
http://identifiers.org/omim/100800 RETO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://localhost/plosthes.2017-1#11376 PLOSTHES LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000000281 NDFRT CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/OMIM/616482 OMIM CUI
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/699870002 SNOMEDCT CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM