Human Phenotype Ontology 
Grandparent Node:
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Abnormal calvaria morphology (HP:0002683)help
Parent Node:
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obsolete Abnormality of calvarial morphology (HP:0002648)help
..Starting node
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Obliteration of the calvarial diploe (HP:0030312)help
Term ID: 30312
Name: Obliteration of the calvarial diploe
Synonym: Obliteration of cranial cancellous bone
Definition: Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).
Comments:
Reference: HP:0030312
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
..expandAcrania (HP:0030716) 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
..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:0030312HP:0030312Obliteration of the calvarial diploe0DLX3 CL E G H17472916ORPHA:3352Tricho-dento-osseous syndromeHP:0040282 - Frequent48


Genes (1) :DLX3

Diseases (1) :ORPHA:3352
 

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