Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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/MTHU035287

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

tui

T019

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111243 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C535662 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535662 Medical Subject Headings LOOM