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Ontology Browser

Term:
blepharophimosis, ptosis, and epicanthus inversus syndrome (DOID:14778)
Annotations: Rat: (3) Mouse: (4) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
acrodermatitis +   
Acrootoocular Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Aicardi-Goutieres syndrome +   
Allanson Pantzar McLeod Syndrome +   
Alport syndrome +   
Anetoderma +   
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis  
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
Autoinflammation with Arthritis and Dyskeratosis  
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Barber-Say syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Bifid or Double Ureter 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in FOXL2 on chromosome 3q22.3. (DO)
Bloch-Sulzberger syndrome +   
Book Syndrome 
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
C1q Deficiency  
Calabro Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cardiac-Urogenital Syndrome  
Carney complex +   
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
congenital nystagmus 1  
corpus callosum agenesis-abnormal genitalia syndrome  
Cutaneous Hemangiomatosis with Associated Features 
Dermal Ridges, Nelson Syndrome 
Dermoodontodysplasia 
disorder of sexual development +   
distal arthrogryposis type 1C  
DK Phocomelia Syndrome 
Duane Retraction Syndrome 1  
Duane Retraction Syndrome 2  
Duane Retraction Syndrome 3  
Duker Weiss Siber syndrome 
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
Epispadias +   
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
Erosive Arthropathy 
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
Familial Dyskeratotic Comedones 
familial Mediterranean fever +   
Familial Popliteal Pterygium Syndrome 
fetal encasement syndrome  
focal segmental glomerulosclerosis 3  
Fraser syndrome +   
Fused Kidney  
Genitopatellar Syndrome  
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
Gillespie syndrome  
Hairy Palms and Soles 
hand-foot-genital syndrome  
Hereditary Benign Intraepithelial Dyskeratosis 
Hereditary Sclerosing Poikiloderma +   
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations  
Hypohidrosis with Abnormal Palmar Dermal Ridges 
hypophosphatasia +   
hypospadias +   
ichthyosis +   
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 
IMAGe syndrome  
IMAGEI Syndrome  
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Isolated Pterygium Colli 
Jorgenson Lenz Syndrome 
Kaufman oculocerebrofacial syndrome  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
lethal restrictive dermopathy  
Marden-Walker Syndrome  
McCune Albright syndrome  
Microcephaly Seizures Genital Hypoplasia 
MLS syndrome +   
Multicystic Dysplastic Kidney +   
multiple benign circumferential skin creases on limbs +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
multiple pterygium syndrome +   
Multiple Self-healing Palmoplantar Carcinoma  
Myotubular Myopathy with Abnormal Genital Development 
Nablus Mask-Like Facial Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
Oculocerebrocutaneous Syndrome 
Ohdo syndrome +   
Omphalocele Exstrophy Imperforate Anus 
Patternless Dermal Ridges 
Piepkorn Karp Hickok syndrome 
poikiloderma with neutropenia  
popliteal pterygium syndrome +   
Port-Wine Stain +   
progeria +   
prolidase deficiency  
pseudoxanthoma elasticum +   
Pyelectasis 
renal agenesis +   
Renal Dysplasia - Limb Defects Syndrome 
Renal, Genital, and Middle Ear Anomalies 
retinitis pigmentosa 86  
Retrocaval Ureter 
Ridges-off-the-end Syndrome 
Robinow syndrome +   
Rosselli-Gulienetti Syndrome 
Rothmund-Thomson syndrome +   
Sclerema Neonatorum 
septooptic dysplasia +   
Short Stature and Microcephaly with Genital Anomalies  
Skin/Hair/Eye Pigmentation, Variation In, 1  
Skin/Hair/Eye Pigmentation, Variation In, 10  
Skin/Hair/Eye Pigmentation, Variation In, 11  
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2  
Skin/Hair/Eye Pigmentation, Variation In, 4  
Skin/Hair/Eye Pigmentation, Variation In, 5  
Skin/Hair/Eye Pigmentation, Variation In, 6  
Skin/Hair/Eye Pigmentation, Variation In, 7  
Skin/Hair/Eye Pigmentation, Variation In, 8  
Skin/Hair/Eye Pigmentation, Variation In, 9  
Sotos syndrome +   
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 
Structural Heart Defects and Renal Anomalies Syndrome  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
thrombophilia due to thrombomodulin defect  
trichothiodystrophy +   
tubulinopathy  
Urban Schosser Spohn Syndrome  
Urinary Fistula +  
Urinary Tract Abnormalities +   
Uterine Anomalies 
Van den Ende-Gupta syndrome  
Vascular Hyalinosis 
Weill-Marchesani syndrome +   
Winter Shortland Temple Syndrome  
X-linked lissencephaly 2  
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: BPES ;   blepharophimosis syndrome ;   blepharophimosis, ptosis, and epicanthus inversus ;   blepharophimosis, ptosis, epicanthus inversus syndrome
Narrow Synonyms: BPES with Duane retraction syndrome
Primary IDs: MESH:C562419
Alternate IDs: MESH:C566222 ;   OMIM:110100
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11175783 "DO" "DO"

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