Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ACROMICRIC DYSPLASIA
Synonyms

ACMICD
ID

http://purl.bioontology.org/ontology/OMIM/102370
altLabel

ACMICD
cui

C0265287
Gene Locus

15q21.1
Gene Symbol

FBN1

SSKS

ECTOL1

MFS1

GPHYSD2

MFLS

ACMICD

WMS2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU030601

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU000601

http://purl.bioontology.org/ontology/OMIM/MTHU030595

http://purl.bioontology.org/ontology/OMIM/MTHU004213

http://purl.bioontology.org/ontology/OMIM/MTHU030600

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU030598

http://purl.bioontology.org/ontology/OMIM/MTHU030597

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU030596

http://purl.bioontology.org/ontology/OMIM/MTHU001626

http://purl.bioontology.org/ontology/OMIM/MTHU012775

http://purl.bioontology.org/ontology/OMIM/MTHU003184

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU000602

http://purl.bioontology.org/ontology/OMIM/MTHU030602

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU008529

http://purl.bioontology.org/ontology/OMIM/MTHU002799

http://purl.bioontology.org/ontology/OMIM/MTHU030605

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU030594

http://purl.bioontology.org/ontology/OMIM/MTHU030599
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

102370
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ACROMICRIC DYSPLASIA
Scope Statement

Caused by mutation in the fibrillin 1 gene (FBN1, 134797.0055) [MOLECULAR BASIS]
tui

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/254090007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C535662 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254090007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10083854 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X78Ai RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10083854 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10083854 MEDDRA CUI
http://purl.obolibrary.org/obo/DOID_0111243 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111243 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111243 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0111243 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111243 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0111243 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535662 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_969 ORDO LOOM
http://purl.bioontology.org/ontology/MESH/C535662 MESH LOOM
http://purl.obolibrary.org/obo/OMIM_102370 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 DOVES LOOM
rgo:10286 GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1289 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/254090007 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/X78Ai RCD LOOM
http://identifiers.org/omim/102370 REXO LOOM
http://identifiers.org/omim/102370 GEXO LOOM
http://identifiers.org/omim/102370 RETO LOOM
http://purl.org/skeletome/bonedysplasia#Acromicric_dysplasia BDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083854 MEDDRA LOOM