Ablepharon

Symptom Information:

Symptom ID: HPO:0011224
Synonyms:
Absent eyelids [HPO:0011224]
Aplasia of the eyelids [HPO:0011224]
Hypoplasia of eyelid (disorder) [Orphanet:7450]
Ablepharon (disorder) [Orphanet:7450]
Hypoplasia of eyelid [Orphanet:7450]
Ablepharon [Orphanet:7450]
Absent eyelids [OMIM:Absent eyelids]
Microblepharon/ablepharon/ablephara/eyelid absence [Orphanet:7450]
Ablepharon (absent eyelids) [OMIM:Ablepharon (absent eyelids)]
Quality:
Cross references:
Orphanet:7450 "Microblepharon/ablepharon/ablephara/eyelid absence" [Orphanet:7450]
OMIM: "Absent eyelids" [OMIM:Absent eyelids]
OMIM: "Ablepharon (absent eyelids)" [OMIM:Ablepharon (absent eyelids)]
UMLS:C0266574 "Ablepharon" [HPO:0011224]
UMLS:C0344499 "Hypoplasia of eyelid" [Orphanet:7450]
UMLS:C0266574 "Ablepharon" [Orphanet:7450]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the eyelid
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Aplasia/Hypoplasia of the eyelid(HPO:0011226)
                         Ablepharon(HPO:0011224)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Aplasia/Hypoplasia of the eyelid(HPO:0011226)
                         Ablepharon(HPO:0011224)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Ablepharon macrostomia syndrome (Orphanet:920)
Neu-Laxova syndrome (Orphanet:2671)