Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q51097746)
Watch
English
geleophysic dysplasia
disease
Geleophysic dwarfism
geleophysic dwarfism syndrome
In more languages
edit
Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
osteochondrodysplasia
0 references
bone development disease
1 reference
stated in
Disease Ontology
retrieved
23 November 2020
Disease Ontology ID
DOID:0111724
genetic association
FBN1
2 references
stated in
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000166147/MONDO_0000127
based on heuristic
inferred from an Open Targets association score over 0.7
ADAMTSL2
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000197859/MONDO_0000127
based on heuristic
inferred from an Open Targets association score over 0.7
ICD-9-CM
759.89
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
26 July 2018
Mondo ID
MONDO_0000127
exact match
http://www.orpha.net/ORDO/Orphanet_2623
0 references
http://purl.obolibrary.org/obo/DOID_0111724
1 reference
stated in
Disease Ontology
retrieved
23 November 2020
Disease Ontology ID
DOID:0111724
http://identifiers.org/doid/DOID:0111724
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C537677
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
26 July 2018
Mondo ID
MONDO_0000127
KEGG ID
H00900
0 references
Disease Ontology ID
DOID:0111724
1 reference
stated in
Disease Ontology
retrieved
23 November 2020
Disease Ontology ID
DOID:0111724
GARD rare disease ID
2449
0 references
ICD-10-CM
Q87.1
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
26 July 2018
Mondo ID
MONDO_0000127
Mondo ID
MONDO_0000127
0 references
Orphanet ID
2623
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
26 July 2018
Mondo ID
MONDO_0000127
UMLS CUI
C3489726
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
26 July 2018
Mondo ID
MONDO_0000127
Sitelinks
Wikipedia
(1 entry)
edit
dewiki
Geleophysischer Kleinwuchs
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
