Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Achondroplasia
Synonyms	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
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

Add comment

Add proposal

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create mapping

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/OMIM/134934	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D000130	MSHFRE	CUI
http://purl.obolibrary.org/obo/DOID_4480	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	MONDO	LOOM
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	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0007037	EFO	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://www.radlex.org/RID/RID34620	RADLEX	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	DDSS	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://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://nanbyodata.jp/ontology/NANDO_1200877	NANDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036720	PMAPP-PMO	LOOM
rgo:12490	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondroplasia	CSEO	LOOM
http://nanbyodata.jp/ontology/NANDO_2201009	NANDO	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.4	ICD10	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