Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormality of the skeletal system (HP:0000924)help
..Starting node
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Abnormal nasal skeleton morphology (HP:0010937)help
Term ID: 10937
Name: Abnormal nasal skeleton morphology
Synonym: Abnormality of the nasal skeleton; Anomaly of the nasal skeleton; Deformity of the bones of the nose; Deformity of the nasal skeleton; Distortion of the bones of the nose; Distortion of the nasal skeleton; Malformation of the bones of the nose; Malformation of the nasal skeleton
Definition: An abnormality of the nasal skeleton.
Comments:
Reference: HP:0010937
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of the nasal bone (HP:0010939) help
................... HP:0010940 Aplasia/Hypoplasia of the nasal bone
........expandAbnormality of cartilage of nasal septum (HP:3000034) help
................... HP:0005273 Absent nasal septal cartilage

 Sister Nodes: 
..expandAbnormal musculoskeletal physiology (HP:0011843) help
..expandAbnormal odontoid tissue morphology (HP:3000050) help
..expandAbnormal skeletal morphology (HP:0011842) help
..expandAbnormality of limb bone (HP:0040068) help
..expandEctopic calcification (HP:0010766) help
..expandobsolete Abnormality of the periosteum (HP:0040166) 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:0010937HP:0010937Abnormal nasal skeleton morphology0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010937HP:0010937Abnormal nasal skeleton morphology0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0010937HP:0010937Abnormal nasal skeleton morphology0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0010937HP:0010937Abnormal nasal skeleton morphology0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0010937HP:0010937Abnormal nasal skeleton morphology0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010937HP:0010937Abnormal nasal skeleton morphology0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0010937HP:0010937Abnormal nasal skeleton morphology0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0010937HP:0010937Abnormal nasal skeleton morphology0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010937HP:0010937Abnormal nasal skeleton morphology0SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndrome
HP:0010937HP:0010937Abnormal nasal skeleton morphology0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0010937HP:0010937Abnormal nasal skeleton morphology0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0010937HP:0010937Abnormal nasal skeleton morphology0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0010937HP:0010937Abnormal nasal skeleton morphology0USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG78
HP:0010937HP:0010939Abnormal nasal bone morphology1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010937HP:0010939Abnormal nasal bone morphology1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare276
HP:0010937HP:0010939Abnormal nasal bone morphology1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare88
HP:0010937HP:0010939Abnormal nasal bone morphology1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0010937HP:0010939Abnormal nasal bone morphology1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010937HP:0010939Abnormal nasal bone morphology1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0010937HP:3000034Abnormality nasal septum cartilage morphology1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0010937HP:0010939Abnormal nasal bone morphology1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010937HP:3000034Abnormality nasal septum cartilage morphology1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010937HP:0010939Abnormal nasal bone morphology1SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndrome
HP:0010937HP:3000034Abnormality nasal septum cartilage morphology1TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 432
HP:0010937HP:0010939Abnormal nasal bone morphology1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0010937HP:3000034Abnormality nasal septum cartilage morphology1UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0010937HP:0010939Abnormal nasal bone morphology1USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG78
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0010937HP:0005273Absent nasal septal cartilage2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0010937HP:0005273Absent nasal septal cartilage2SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2SLC25A24 CL E G H2995720662ORPHA:2095Gorlin-Chaudhry-Moss syndromeHP:0040282 - Frequent
HP:0010937HP:0005273Absent nasal septal cartilage2TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0010937HP:0033380Nasal chondritis2UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0010937HP:0010940Aplasia/Hypoplasia of the nasal bone2USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG78
HP:0010937HP:0010941Aplasia of the nasal bone3ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0010937HP:0004646Hypoplasia of the nasal bone3PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0010937HP:0010941Aplasia of the nasal bone3PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010937HP:0004646Hypoplasia of the nasal bone3PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0010937HP:0010941Aplasia of the nasal bone3SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0010937HP:0004646Hypoplasia of the nasal bone3TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0010937HP:0010941Aplasia of the nasal bone3TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0010937HP:0004646Hypoplasia of the nasal bone3USH1G CL E G H12459016356OMIM:606943Usher syndrome, type IG.78


Genes (13) :ALX4 BRAF CTNNB1 PDE4D PPP1R12A PRKAR1A PTCH1 SIX3 SLC25A24 TGIF1 TONSL UBA1 USH1G

Diseases (11) :OMIM:613451 ORPHA:54595 ORPHA:280651 OMIM:618820 OMIM:610828 OMIM:157170 ORPHA:2095 OMIM:142946 ORPHA:93357 OMIM:301054 OMIM:606943
 

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