Terminology Service < Semantic Lookup Platform

Achondroplasia

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

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)

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Instance info

Synonyms

Skeleton Skin Brain Syndrome, Skeleton-Skin-Brain Syndromes, Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans, Syndrome, Skeleton-Skin-Brain, Schwere Achondroplasie mit Entwicklungsverzögerung und Acanthosis Nigricans (DE), Dysplasia, SADDAN, SADDAN Dysplasias, SADDAN Dysplasia, Schwere Achondroplasie mit Entwicklungsverzoegerung und Acanthosis Nigricans (DE), Skeleton-Skin-Brain Syndrome, SADDAN, Achondroplasias, Achondroplasie (DE), SADDANs, Syndromes, Skeleton-Skin-Brain, Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans, SADDAN-Dysplasie (DE), Dysplasias, 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

19660101

D051498

MDA

19990101

MMR

20130708

C05.116.099.708.017,C05.116.099.343.110,C16.320.240.500

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/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/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,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/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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

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

SIB

http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D015831,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D060048,http://purl.bioontology.org/ontology/MESH/D004393,http://purl.bioontology.org/ontology/MESH/D010026,http://purl.bioontology.org/ontology/MESH/D046150,http://purl.bioontology.org/ontology/MESH/D015826,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D006957,http://purl.bioontology.org/ontology/MESH/D002973,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D050336,http://purl.bioontology.org/ontology/MESH/D020083,http://purl.bioontology.org/ontology/MESH/D056846,http://purl.bioontology.org/ontology/MESH/D004687,http://purl.bioontology.org/ontology/MESH/D003057,http://purl.bioontology.org/ontology/MESH/D057767,http://purl.bioontology.org/ontology/MESH/D002806,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D003409,http://purl.bioontology.org/ontology/MESH/D005357,http://purl.bioontology.org/ontology/MESH/D003966

TERMUI

T823974,T809866,T842409,T774184,T000387,T774186

GHR (2014),ORD (2010),OMIM (2013),NLM (1966),NLM (2012)

cui

C2674173,C0001080

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C536017,http://purl.bioontology.org/ontology/MESH/C535820,http://purl.bioontology.org/ontology/MESH/C536018,http://purl.bioontology.org/ontology/MESH/C531599,http://purl.bioontology.org/ontology/MESH/C536019,http://purl.bioontology.org/ontology/MESH/C537999,http://purl.bioontology.org/ontology/MESH/C536015,http://purl.bioontology.org/ontology/MESH/C536016,http://purl.bioontology.org/ontology/MESH/C536020,http://purl.bioontology.org/ontology/MESH/C565984,http://purl.bioontology.org/ontology/MESH/C537794,http://purl.bioontology.org/ontology/MESH/C535819

tui

T019

Instance relations

Types

Class