congenital ptosis

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Summary

Literature (0)

DOID:0060261 - congenital ptosis

Disease Ontology Definition:A ptosis characterized by superior eyelid drop present at birth.

Synonyms: hereditary congenital ptosis

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col25a1, zfhx4, col25a1.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008340 - ptosis, hereditary congenital, 1

MONDO:0008340 - ptosis, hereditary congenital, 1

MIM:

MIM:178300 - PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
MIM:300245 - PTOSIS, HEREDITARY CONGENITAL 2

MIM:178300 - PTOSIS, HEREDITARY CONGENITAL 1; PTOS1

MIM:300245 - PTOSIS, HEREDITARY CONGENITAL 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): physical disorder (is_a), ptosis (is_a)