Digital medicine Outcomes Value Set (DOVeS) Ontology - acromesomelic dysplasia 2A - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	acromesomelic dysplasia 2A
Synonyms	achondrogenesis, type II achondrogenesis type II (formerly) hypochondrogenesis Brazilian achondrogenesis achondrogenesis, type II, formerly achondrogenesis, Brazilian AMDG Grebe syndrome Grebe chondrodysplasia acromesomelic dysplasia, Grebe type type II achondrogenesis chondrodysplasia, Grebe type GREBE chondrodysplasia Langer-Saldino achondrogenesis Grebe dysplasia acromesomelic dysplasia 2A
Definitions	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
ID	http://purl.obolibrary.org/obo/MONDO_0008703
altLabel	achondrogenesis, type II achondrogenesis type II (formerly) hypochondrogenesis Brazilian achondrogenesis achondrogenesis, type II, formerly achondrogenesis, Brazilian AMDG Grebe syndrome Grebe chondrodysplasia acromesomelic dysplasia, Grebe type type II achondrogenesis chondrodysplasia, Grebe type GREBE chondrodysplasia Langer-Saldino achondrogenesis Grebe dysplasia acromesomelic dysplasia 2A
definition	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
has_exact_synonym	Grebe chondrodysplasia acromesomelic dysplasia, Grebe type type II achondrogenesis chondrodysplasia, Grebe type GREBE chondrodysplasia Langer-Saldino achondrogenesis Grebe dysplasia acromesomelic dysplasia 2A
has_related_synonym	achondrogenesis, type II achondrogenesis type II (formerly) hypochondrogenesis Brazilian achondrogenesis achondrogenesis, type II, formerly achondrogenesis, Brazilian AMDG Grebe syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948
label	acromesomelic dysplasia 2A
prefixIRI	MONDO:0008703
prefLabel	acromesomelic dysplasia 2A
textual definition	An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019648 http://purl.obolibrary.org/obo/MONDO_0019696

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0008703	CCONT	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0008703	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0008703	EFO	SAME_URI
	http://purl.bioontology.org/ontology/OMIM/200700	OMIM	LOOM
	http://purl.obolibrary.org/obo/MONDO_0008703	CCONT	LOOM
	http://purl.obolibrary.org/obo/MONDO_0008703	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0008703	EFO	LOOM