Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Achondroplasia

Synonyms

SADDAN Dysplasia

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

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

SADDAN Dysplasia

Syndrome, Skeleton-Skin-Brain

Dysplasias, SADDAN

SADDAN Dysplasias

Syndromes, Skeleton-Skin-Brain

Dysplasia, SADDAN

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDANs

Skeleton-Skin-Brain Syndrome

Achondroplasias

Skeleton Skin Brain Syndrome

SADDAN

Skeleton-Skin-Brain Syndromes

Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

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/Q000097

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inverse of RO

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

Mapped from

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

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

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

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

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

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

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

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

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

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

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

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

MDA

19990101

MMR

20130708

MN

C16.320.240.500

C05.116.099.708.017

C05.116.099.343.110

notation

D000130

prefLabel

Achondroplasia

TERMUI

T823974

T774184

T842409

T774186

T000387

T809866

TH

OMIM (2013)

NLM (1966)

NLM (2012)

GHR (2014)

ORD (2010)

tui

T019

subClassOf

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

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

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/616482 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10000452 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/2715-2940 CRISP CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/OMIM/100800 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10000453 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X76BI RCD CUI
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD CUI
http://purl.bioontology.org/ontology/ICPC2P/L82001 ICPC2P CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000281 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/86268005 SCTSPA CUI
http://purl.bioontology.org/ontology/CST/CHONDRODYST COSTART CUI
http://purl.bioontology.org/ontology/MDRGER/10000453 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10000452 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 CUI
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10000453 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10082394 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10082394 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10082394 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130 MSHFRE CUI
http://purl.org/skeletome/bonedysplasia#Achondroplasia BDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.708.017 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000130 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007037 DOVES LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001080 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/OMIM/100800 OMIM LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A16 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/XE1M7 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.110 RH-MESH LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Achondroplasia PEDTERM LOOM
http://www.projecthalo.com/aura#Achondroplasia AURA LOOM
http://identifiers.org/omim/100800 REXO LOOM
http://identifiers.org/omim/100800 GEXO LOOM
http://identifiers.org/omim/100800 RETO LOOM
http://purl.jp/bio/4/id/200906065894508826 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.4 ICD10CM LOOM
http://localhost/plosthes.2017-1#11376 PLOSTHES LOOM
http://www.co-ode.org/ontologies/galen#Achondroplasia GALEN LOOM
urn:agi-pathway:uuid-708db1ba-e8b3-4b18-b3b1-e89e3e4a653f BPT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/86268005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_100800 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4480 NATPRO LOOM
http://www.orpha.net/ORDO/Orphanet_15 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4480 DTO 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4480 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4480 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4480 FNS-H LOOM
http://www.limics.org/hrdo/rdfns#pat_id_148 HRDO LOOM
http://radlex.org/RID/RID34620 RADLEX LOOM
http://purl.bioontology.org/ontology/RCTV2/PG41.00 RCTV2 LOOM
urn:agi-folder:achondroplasia BPT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34345 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4 ICD10 LOOM
http://www.gamuts.net/entity#achondroplasia GAMUTS LOOM
http://purl.bioontology.org/ontology/CSP/1849-0171 CRISP LOOM
http://purl.obolibrary.org/obo/NCIT_C34345 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0001572 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.500 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001080 OCHV LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#628 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10000452 MEDDRA LOOM