Arrhinencephaly

Symptom Information:

Symptom ID: HPO:0002139
Synonyms:
Holoprosencephaly [Orphanet:42330]
Arrhinencephaly [Orphanet:42330]
Arhinencephaly [HPO:0002139]
Arhinencephaly [Orphanet:42330]
Arrhinencephaly [OMIM:Arrhinencephaly]
Holoprosencephaly/arhinencephaly/unique lateral ventricle [Orphanet:42330]
Holoprosencephaly [MedDRA:10056304]
Arhinencephaly [OMIM:Arhinencephaly]
Holoprosencephaly (1 patient) [OMIM:Holoprosencephaly (1 patient)]
Holoprosencephaly (100%) [OMIM:Holoprosencephaly (100%)]
Holoprosencephaly (HPE) [OMIM:Holoprosencephaly (HPE)]
Holoprosencephaly (variable) [OMIM:Holoprosencephaly (variable)]
Unique lateral ventricle [Orphanet:42330]
Quality:
Cross references:
HPO:0001360 "Holoprosencephaly" [Orphanet:42330]
Orphanet:42330 "Holoprosencephaly/arhinencephaly/unique lateral ventricle" [Orphanet:42330]
OMIM: "Arrhinencephaly" [OMIM:Arrhinencephaly]
OMIM: "Arhinencephaly" [OMIM:Arhinencephaly]
OMIM: "Holoprosencephaly (1 patient)" [OMIM:Holoprosencephaly (1 patient)]
OMIM: "Holoprosencephaly (100%)" [OMIM:Holoprosencephaly (100%)]
OMIM: "Holoprosencephaly (HPE)" [OMIM:Holoprosencephaly (HPE)]
OMIM: "Holoprosencephaly (variable)" [OMIM:Holoprosencephaly (variable)]
UMLS:C0078982 "Arhinencephaly" [HPO:0002139]
UMLS:C0079541 "Holoprosencephaly" [Orphanet:42330]
UMLS:C0078982 "Arhinencephaly" [Orphanet:42330]
Is a (Direct Parents):
MedDRA Cerebral disorders congenital
Orphanet Holoprosencephaly
Orphanet Structural anomalies of the nervous system
HPO         Anencephaly
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebral disorders congenital(MedDRA:10052634)
          Arrhinencephaly(HPO:0002139)
Database Frequency: 13 / 7739
Resource:

All diseases associated with this symptom:

Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
CHARGE syndrome (Orphanet:138)
Craniotelencephalic dysplasia (Orphanet:1528)
FETAL AKINESIA SYNDROME, X-LINKED (OMIM:300073)
Fryns syndrome (Orphanet:2059)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hydrolethalus (Orphanet:2189)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
Microgastria - limb reduction defect (Orphanet:2538)
Yunis-Varon syndrome (Orphanet:3472)