Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nasal bone morphology (HP:0010939)help
Parent Node:
expandAplasia/Hypoplasia of the nasal bone (HP:0010940)help
..Starting node
..expandAplasia of the nasal bone (HP:0010941)help
Term ID: 10941
Name: Aplasia of the nasal bone
Synonym: Absence of the nasal bone; Agenesis of the nasal bone; Failure of development of the nasal bone; Lack of development of the nasal bone; Missing nasal bone
Definition: Absence of the nasal bone.
Comments:
Reference: HP:0010941
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplasia of the nasal bone (HP:0004646) 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:0010941HP:0010941Aplasia of the nasal bone0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010941HP:0010941Aplasia of the nasal bone0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010941HP:0010941Aplasia of the nasal bone0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010941HP:0010941Aplasia of the nasal bone0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional


Genes (4) :ALX4 PPP1R12A SIX3 TONSL

Diseases (4) :OMIM:613451 OMIM:618820 OMIM:157170 ORPHA:93357
 

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