Cyclopia

Symptom Information:

Symptom ID: HPO:0009914
Synonyms:
Cyclopia (disorder) [Orphanet:4080]
Cyclocephaly [Orphanet:4080]
Cyclopia [OMIM:Cyclopia]
Cyclopia [Orphanet:4080]
Cyclopia [MedDRA:10057648]
Cyclopia (5%) [OMIM:Cyclopia (5%)]
Quality:
Cross references:
Orphanet:4080 "Cyclopia" [Orphanet:4080]
OMIM: "Cyclopia" [OMIM:Cyclopia]
OMIM: "Cyclopia (5%)" [OMIM:Cyclopia (5%)]
UMLS:C0266667 "Cyclopia" [HPO:0009914]
UMLS:C0266667 "Cyclocephaly" [Orphanet:4080]
Is a (Direct Parents):
Orphanet Abnormality of the eye
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
HPO         Abnormality of globe location
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe location(HPO:0100886)
                   Cyclopia(HPO:0009914)
       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 globe location(HPO:0100886)
                      Cyclopia(HPO:0009914)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe location(HPO:0100886)
                      Cyclopia(HPO:0009914)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380)
          Cyclopia(HPO:0009914)
Database Frequency: 11 / 7739
Resource:

All diseases associated with this symptom:

16p13.11 microdeletion syndrome (Orphanet:261236)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
HOLOPROSENCEPHALY 1 (OMIM:236100)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 3 (OMIM:142945)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - caudal dysgenesis (Orphanet:2165)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Trisomy 18 (Orphanet:3380)