Disease #00875 (EVMPS (pterygium syndrome, multiple, Escobar type (EVMPS)), OMIM:265000)

Official abbreviation EVMPS
Name pterygium syndrome, multiple, Escobar type (EVMPS)
OMIM ID 265000
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene CHRNG
Associated tissues -
Disease features -
Remarks -


Individuals

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00117822 - PubMed: Hoffmann 2006 - - - Oman - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117823 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 2 1 Johan den Dunnen
00117824 - PubMed: Vogt 2011 - - - Ireland Irish - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117825 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Brazil - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117826 - PubMed: Morgan 2006 Affected relative infant death - diaphragmatic eventration - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117827 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 2 1 Johan den Dunnen
00117829 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - (Spanish / Portuguese ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117830 - PubMed: Hoffmann 2006 One affected infant death - diaphragmatic eventration - - Germany - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 2 1 Johan den Dunnen
00117832 - PubMed: Morgan 2006 - - - Pakistan Pakistani - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117835 - PubMed: Vogt 2011 - - - - White Mixed (South American ancestry) - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117836 - PubMed: Morgan 2006 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117837 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117838 - PubMed: Vogt 2011 - - - United Kingdom (Great Britain) White UK - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117841 - PubMed: Vogt 2011 - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 2 1 Johan den Dunnen
00117845 - Unpublished. For further information contact julie.vogt@bwhct.nhs.uk - - - - - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117846 - PubMed: Hoffmann 2006 - - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117847 - - - M yes Turkey Turkish - 0 - - EVMPS multiple pterygium syndrome, Escobar variant; EVMPS CHRNG CHRNG 1 1 Selma Demir Ulusal
00117848 - PubMed: Hoffmann 2006 One affected deceased, cause unspecified. - - Lebanon - - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00117849 - Unpublished. For further information contact: julie.vogt@bwhct.nhs.uk - - - Somalia Somalian - 0 - - EVMPS Multiple Pterygium Syndrome - Escobar Variant CHRNG CHRNG 1 1 Johan den Dunnen
00208753 30461311-Fam PubMed: Sher 2018 3-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - EVMPS see paper; ... CHRNG CHRNG 1 3 Johan den Dunnen
Legend   How to query