Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of brain morphology (HP:0012443)help
Parent Node:
expandHoloprosencephaly (HP:0001360)help
..Starting node
..expandAlobar holoprosencephaly (HP:0006988)help
Term ID: 6988
Name: Alobar holoprosencephaly
Synonym:
Definition: A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.
Comments:
Reference: HP:0006988
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEthmocephaly (HP:0030779) help
..expandLobar holoprosencephaly (HP:0006870) help
..expandSemilobar holoprosencephaly (HP:0002507) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006988HP:0006988Alobar holoprosencephaly0PLCH1 CL E G H2300729185OMIM:619895
HP:0006988HP:0006988Alobar holoprosencephaly0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0006988HP:0006988Alobar holoprosencephaly0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0006988HP:0006988Alobar holoprosencephaly0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0006988HP:0006988Alobar holoprosencephaly0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534


Genes (5) :PLCH1 PTCH1 SIX3 STAG2 ZIC2

Diseases (5) :OMIM:619895 OMIM:610828 OMIM:157170 OMIM:301043 OMIM:609637
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.