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Disease Holoprosencephaly

Name Holoprosencephaly
Synonyms Alobar Holoprosencephalies | Alobar Holoprosencephaly | Arhinencephalies | Arhinencephaly | CYCLOPIA | DEMYER SEQUENCE | Holoprosencephalies | Holoprosencephalies, Alobar | Holoprosencephalies, Lobar | Holoprosencephalies, Semilobar | HOLOPROSENCEPHALY 1 | Holoprosencephaly, Alobar | Holoprosencephaly, Familial Alobar | Holoprosencephaly, Lobar | Holoprosencephaly, Semilobar | HPE1 | HPEC | HPE, FAMILIAL | Lobar Holoprosencephalies | Lobar Holoprosencephaly | Semilobar Holoprosencephalies | Semilobar Holoprosencephaly
Definition Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Categories Congenital abnormality | Genetic disease (inborn) | Musculoskeletal disease | Nervous system disease
MeSH® ID D016142
OMIM® ID 236100
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Holoprosencephaly Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Agenesis of Corpus Callosum Has associated chemicals Has associated genes Holoprosencephaly Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Holoprosencephaly Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Holoprosencephaly Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Holoprosencephaly Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Agenesis of Corpus Callosum Has associated chemicals Has associated genes Holoprosencephaly Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Holoprosencephaly Has associated chemicals Has associated genes

Top ↑ Descendants

Holoprosencephaly Has associated chemicals Has associated genes
  Cyclopia Has associated chemicals Has associated genes
  Dysgnathia complex Has associated chemicals Has associated genes
  Genoa syndrome
  Holoprosencephaly 10
  Holoprosencephaly 2 Has associated chemicals Has associated genes
  Holoprosencephaly 3 Has associated chemicals Has associated genes
  Holoprosencephaly 4 Has associated chemicals Has associated genes
  Holoprosencephaly 5 Has associated chemicals Has associated genes
  Holoprosencephaly 6
  Holoprosencephaly 7 Has associated chemicals Has associated genes
  Holoprosencephaly 8
  Holoprosencephaly 9 Has associated chemicals Has associated genes
  Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
  Holoprosencephaly, recurrent infections, and monocytosis
  Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence
  Lambotte syndrome
  Microgastria limb reduction defect
  Nonsyndromic Holoprosencephaly
  Pseudotrisomy 13 syndrome
  Steinfeld Syndrome