Disease #00875

Official abbreviation EVMPS
Name pterygium syndrome, multiple, Escobar type (EVMPS)
OMIM ID 265000
Human Phenotype Ontology Project (HPO) HPO
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  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/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00117825 - Unpublished.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00117829 - Unpublished.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