FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Ehlers-Danlos syndrome kyphoscoliotic type 1

Synonyms
Definitions

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.

ID

http://purl.obolibrary.org/obo/DOID_0080734

definition

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Ehlers-Danlos syndrome kyphoscoliotic type 1

prefixIRI

DOID:0080734

prefLabel

Ehlers-Danlos syndrome kyphoscoliotic type 1

subClassOf

http://purl.obolibrary.org/obo/DOID_13359

http://purl.obolibrary.org/obo/DOID_0050737

Delete Subject Author Type Created
No notes to display