Septo-optic dysplasia

Symptom Information:

Symptom ID: HPO:0100842
Synonyms:
De Morsier syndrome [HPO:0100842]
Septo-optic dysplasia sequence (disorder) [Orphanet:42840]
Septo-Optic Dysplasia [Orphanet:42840]
Septo-optic dysplasia [Orphanet:42840]
Septo-optic dysplasia [MedDRA:10067159]
de Morsier's syndrome [MedDRA:10067159]
Quality:
Cross references:
Orphanet:42840 "Septo-optic dysplasia" [Orphanet:42840]
UMLS:C0338503 "Septo-Optic Dysplasia" [Orphanet:42840]
Is a (Direct Parents):
Orphanet Structural anomalies of the nervous system
HPO         Optic nerve hypoplasia
HPO         Absent septum pellucidum
MedDRA Structural brain disorders NEC
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)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                      Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                         Optic nerve hypoplasia(HPO:0000609)
                            Septo-optic dysplasia(HPO:0100842)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Aplasia/Hypoplasia affecting the fundus(HPO:0008057)
                         Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                            Optic nerve hypoplasia(HPO:0000609)
                               Septo-optic dysplasia(HPO:0100842)
                      Abnormality of the optic nerve(HPO:0000587)
                         Aplasia/Hypoplasia of the optic nerve(HPO:0008058)
                            Optic nerve hypoplasia(HPO:0000609)
                               Septo-optic dysplasia(HPO:0100842)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Structural brain disorders(MedDRA:10042258)
       Structural brain disorders NEC(MedDRA:10042259)
          Septo-optic dysplasia(HPO:0100842)
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Central congenital hypothyroidism (Orphanet:226298)
Craniotelencephalic dysplasia (Orphanet:1528)
Diabetic embryopathy (Orphanet:1926)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Pituitary stalk interruption syndrome (Orphanet:95496)
Rhombencephalosynapsis (Orphanet:59315)
Septo-optic dysplasia (Orphanet:3157)
Tetraamelia - multiple malformations (Orphanet:3301)