Holoprosencephaly

Symptom Information:

Symptom ID: HPO:0001360
Synonyms:
Single brain ventricle [HPO:0001360]
Arrhinencephaly [Orphanet:42330]
Holoprosencephaly [Orphanet:42330]
Arhinencephaly [Orphanet:42330]
Holoprosencephaly [OMIM:Holoprosencephaly]
Single brain ventricle [OMIM:Single brain ventricle]
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:0002139 "Arrhinencephaly" [Orphanet:42330]
Orphanet:42330 "Holoprosencephaly/arhinencephaly/unique lateral ventricle" [Orphanet:42330]
OMIM: "Holoprosencephaly" [OMIM:Holoprosencephaly]
OMIM: "Single brain ventricle" [OMIM:Single brain ventricle]
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:C0079541 "Holoprosencephaly" [HPO:0001360]
UMLS:C0079541 "Holoprosencephaly" [Orphanet:42330]
UMLS:C0078982 "Arhinencephaly" [Orphanet:42330]
Is a (Direct Parents):
MedDRA Cerebral disorders congenital
HPO         Abnormality of the cerebrum
Orphanet Structural anomalies of the nervous system
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Cerebral disorders congenital(MedDRA:10052634)
          Holoprosencephaly(HPO:0001360)
Database Frequency: 29 / 7739
Resource:

All diseases associated with this symptom:

1q41q42 microdeletion syndrome (Orphanet:250999)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Anotia (Orphanet:93976)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Craniotelencephalic dysplasia (Orphanet:1528)
Diabetic embryopathy (Orphanet:1926)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FETAL AKINESIA SYNDROME, X-LINKED (OMIM:300073)
HOLOPROSENCEPHALY 11 (OMIM:614226)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 3 (OMIM:142945)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Intellectual deficit, X-linked, Turner type (Orphanet:85328)
Jacobsen syndrome (Orphanet:2308)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Pallister-Hall syndrome (Orphanet:672)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Yunis-Varon syndrome (Orphanet:3472)