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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

GPHYSD2

WMS2

ACMICD

MFS1

SSKS

ECTOL1

FBN1

MFLS
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU036364
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.obolibrary.org/obo/DOID_0111243 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C535662 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535662 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_969 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007055 Experimental Factor Ontology / 实验性因素本体 LOOM