Human Phenotype Ontology 
Grandparent Node:
expandAbnormal nasal skeleton morphology (HP:0010937)help
Parent Node:
expandAbnormal nasal bone morphology (HP:0010939)help
..Starting node
..expandAplasia/Hypoplasia of the nasal bone (HP:0010940)help
Term ID: 10940
Name: Aplasia/Hypoplasia of the nasal bone
Synonym:
Definition: Absence or underdevelopment of the nasal bone.
Comments:
Reference: HP:0010940
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the nasal bone (HP:0004646) help
........expandAplasia of the nasal bone (HP:0010941) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040282 - Frequent
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0010940HP:0010940Aplasia/Hypoplasia of the nasal bone0USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG78
HP:0010940HP:0010941Aplasia of the nasal bone1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010940HP:0004646Hypoplasia of the nasal bone1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0010940HP:0010941Aplasia of the nasal bone1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010940HP:0004646Hypoplasia of the nasal bone1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0010940HP:0010941Aplasia of the nasal bone1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010940HP:0010941Aplasia of the nasal bone1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0010940HP:0004646Hypoplasia of the nasal bone1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0010940HP:0004646Hypoplasia of the nasal bone1USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG.78


Genes (8) :ALX4 PDE4D PPP1R12A PRKAR1A SIX3 SLC25A24 TONSL USH1G

Diseases (7) :OMIM:613451 ORPHA:280651 OMIM:618820 OMIM:157170 ORPHA:2095 ORPHA:93357 OMIM:606943
 

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