Preferred Label : blepharophimosis syndrome type 1;
MeSH synonym : blepharophimosis, ptosis, epicanthus inversus type 1; blepharophimosis, ptosis, epicanthus inversus with ovarian failure;
Origin ID : C536233;
UMLS CUI : C2931135;
CISMeF manual mappings
Currated CISMeF NLP mapping
MeSH term(s) associated for indexing
Record concept(s)
Semantic type(s)
Validated automatic mappings to NTBT
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=572354
2021
France
scientific and technical information
Blepharophimosis
blepharophimosis syndrome
Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Ptosis
blepharophimosis
Epicanthus
blepharoptosis
blepharophimosis syndrome type 1
van der hoeve halbertsma waardenburg gualdi syndrome
waardenburg syndrome
menopause, premature
skin abnormalities
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261579
2011
false
false
false
France
scientific and technical information
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 1
blepharophimosis
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 2
blepharoptosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261559
2011
France
scientific and technical information
blepharoptosis
monosomy
blepharophimosis syndrome type 1
blepharophimosis syndrome type 2
blepharoptosis
blepharophimosis
---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=261572
2011
France
scientific and technical information
blepharoptosis
point mutation
blepharophimosis syndrome type 2
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis, ptosis, and epicanthus inversus
blepharophimosis syndrome type 1
blepharophimosis
---