Human Phenotype Ontology 
Grandparent Node:
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Abnormal external nose morphology (HP:0010938)help
Parent Node:
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Abnormal nasal dorsum morphology (HP:0011119)help
..Starting node
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Large beaked nose (HP:0003683)help
Term ID: 3683
Name: Large beaked nose
Synonym: Large beaked nose
Definition:
Comments:
Reference: HP:0003683
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandConcave nasal ridge (HP:0011120) help
..expandConvex nasal ridge (HP:0000444) help
..expandDepressed nasal ridge (HP:0000457) help
..expandNarrow nasal ridge (HP:0000418) help
..expandWide nasal ridge (HP:0012811) 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:0003683HP:0003683Large beaked nose0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0003683HP:0003683Large beaked nose0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0003683HP:0003683Large beaked nose0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.4
HP:0003683HP:0003683Large beaked nose0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003683HP:0003683Large beaked nose0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0003683HP:0003683Large beaked nose0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0003683HP:0003683Large beaked nose0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0003683HP:0003683Large beaked nose0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0003683HP:0003683Large beaked nose0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0003683HP:0003683Large beaked nose0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0003683HP:0003683Large beaked nose0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0003683HP:0003683Large beaked nose0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0003683HP:0003683Large beaked nose0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0003683HP:0003683Large beaked nose0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0003683HP:0003683Large beaked nose0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0003683HP:0003683Large beaked nose0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0003683HP:0003683Large beaked nose0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9


Genes (17) :ADAR ASH1L ASPH CENPT CEP152 ERCC2 IFIH1 LIG4 LSM11 POLR3A RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1 XRCC4

Diseases (8) :ORPHA:51 OMIM:617796 OMIM:601552 OMIM:618702 OMIM:613823 OMIM:610756 ORPHA:99812 ORPHA:3455
 

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