Human Phenotype Ontology 
Grandparent Node:
expandAbnormal calvaria morphology (HP:0002683)help
Parent Node:
expandobsolete Abnormality of calvarial morphology (HP:0002648)help
..Starting node
..expandAcrania (HP:0030716)help
Term ID: 30716
Name: Acrania
Synonym:
Definition: Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.
Comments:
Reference: HP:0030716
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal parietal bone morphology (HP:0002696) help
..expandAbnormal shape of the frontal region (HP:0011218) help
..expandAbnormal shape of the occiput (HP:0011217) help
..expandBiparietal narrowing (HP:0004422) help
..expandBrachycephaly (HP:0000248) help
..expandBroad skull (HP:0002682) help
..expandCalvarial skull defect (HP:0001362) help
..expandCloverleaf skull (HP:0002676) help
..expandCranial asymmetry (HP:0000267) help
..expandCraniosynostosis (HP:0001363) help
..expandDolichocephaly (HP:0000268) help
..expandObliteration of the calvarial diploe (HP:0030312) help
..expandPlagiocephaly (HP:0001357) help
..expandPlatybasia (HP:0002691) help
..expandSkull asymmetry (HP:0002678) help
..expandTrigonocephaly (HP:0000243) help
..expandTurricephaly (HP:0000262) 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:0030716HP:0030716Acrania0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS


Genes (1) :PPP1R12A

Diseases (1) :OMIM:618820
 

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