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encyclopedia of Rare Disease Annotation for Precision Medicine

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	blepharophimosis

Disease ID	1791
Disease	blepharophimosis
Definition	The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
Synonym	blepharophimoses blepharophimosis [disease/finding] decreased width of palpebral fissure narrow opening between the eyelids narrow palpebral fissures
DOID	DOID:10348
UMLS	C0005744
MeSH	D016569
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0025958 \| microcephaly \| 1 C0005745 \| ptosis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:47) 55 \| ACPP \| 1.716 \| DISEASES 23394 \| ADNP \| 3.116 \| DISEASES 257 \| ALX3 \| 2.611 \| DISEASES 60529 \| ALX4 \| 2.125 \| DISEASES 220202 \| ATOH7 \| 1.351 \| DISEASES 481 \| ATP1B1 \| 2.664 \| DISEASES 545 \| ATR \| 1.173 \| DISEASES 60467 \| BPESC1 \| 4.147 \| DISEASES 7862 \| BRPF1 \| 2.95 \| DISEASES 9973 \| CCS \| 2.6 \| DISEASES 1123 \| CHN1 \| 1.583 \| DISEASES 9276 \| COPB2 \| 4.273 \| DISEASES 80319 \| CXXC4 \| 2.989 \| DISEASES 317649 \| EIF4E3 \| 4.232 \| DISEASES 2303 \| FOXC2 \| 1.543 \| DISEASES 668 \| FOXL2 \| 7.674 \| DISEASES 93986 \| FOXP2 \| 1.529 \| DISEASES 2492 \| FSHR \| 1.674 \| DISEASES 2701 \| GJA4 \| 1.833 \| DISEASES 23462 \| HEY1 \| 1.591 \| DISEASES 3339 \| HSPG2 \| 4.845 \| DISEASES 55605 \| KIF21A \| 2.034 \| DISEASES 54900 \| LAX1 \| 1.299 \| DISEASES 55777 \| MBD5 \| 1.905 \| DISEASES 9968 \| MED12 \| 3.124 \| DISEASES 8510 \| MMP23B \| 2.705 \| DISEASES 4553 \| MT-TA \| 2.842 \| DISEASES 7181 \| NR2C1 \| 3.129 \| DISEASES 140464 \| PISRT1 \| 4.908 \| DISEASES 4920 \| ROR2 \| 2.269 \| DISEASES 284654 \| RSPO1 \| 2.004 \| DISEASES 55209 \| SETD5 \| 3.137 \| DISEASES 6473 \| SHOX \| 1.449 \| DISEASES 6474 \| SHOX2 \| 2.361 \| DISEASES 4089 \| SMAD4 \| 2.296 \| DISEASES 6622 \| SNCA \| 2.338 \| DISEASES 6736 \| SRY \| 1.967 \| DISEASES 6890 \| TAP1 \| 2.523 \| DISEASES 57057 \| TBX20 \| 2.437 \| DISEASES 50945 \| TBX22 \| 2.09 \| DISEASES 117581 \| TWIST2 \| 1.995 \| DISEASES 7329 \| UBE2I \| 1.718 \| DISEASES 7337 \| UBE3A \| 1.157 \| DISEASES 89910 \| UBE3B \| 4.223 \| DISEASES 157680 \| VPS13B \| 2.622 \| DISEASES 23414 \| ZFPM2 \| 2.129 \| DISEASES 84107 \| ZIC4 \| 2.779 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1791
Disease	blepharophimosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0001999 \| Facial dysmorphism \| 3 HP:0000508 \| Drooping upper eyelid \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0000522 \| Absent lacrimal fluids \| 1 HP:0000646 \| Wandering eyes \| 1 HP:0000252 \| Small head circumference \| 1 HP:0000579 \| Nasolacrimal duct obstruction \| 1 HP:0003196 \| Short nose \| 1 HP:0005484 \| Acquired microcephaly \| 1

Disease ID	1791
Disease	blepharophimosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C1833136 \| van den ende-gupta syndrome C1401084 \| ovarian insufficiency C0747102 \| ovarian failure C0035334 \| retinitis pigmentosa C0034951 \| refractive error
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1401084 \| ovarian insufficiency \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1791
Disease	blepharophimosis
Case	(Waiting for update.)

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