Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormality of the nose (HP:0000366)help
..Starting node
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Abnormal nasal base norphology (HP:0012808)help
Term ID: 12808
Name: Abnormal nasal base norphology
Synonym: Abnormal nasal base; Abnormality of base of nose; Anomaly of base of nose; Anomaly of nasal base; Deformity of base of nose; Deformity of nasal base; Malformation of base of nose; Malformation of nasal base
Definition: An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.
Comments:
Reference: HP:0012808
Genes and Diseases:
 
       Child Nodes:
........expandNarrow nasal base (HP:0012809) help
........expandWide nasal base (HP:0012810) help

 Sister Nodes: 
..expandAbnormal external nose morphology (HP:0010938) help
..expandAbnormal nasal bridge morphology (HP:0000422) help
..expandAbnormal nasal morphology (HP:0005105) help
..expandAbnormal nasal mucosa morphology (HP:0000433) help
..expandAbnormal nasal septum morphology (HP:0000419) help
..expandAbnormal nasal skeleton morphology (HP:0010937) help
..expandAbnormal nasopharynx morphology (HP:0001739) help
..expandAbnormal nostril morphology (HP:0005288) help
..expandAbnormality of nasal hair (HP:0040057) help
..expandAbnormality of nasalis muscle (HP:3000009) help
..expandAbnormality of procerus muscle (HP:3000014) help
..expandAbnormality of the choanae (HP:0000415) help
..expandAbnormality of the nasal cavity (HP:0010640) help
..expandAbnormality of the nasolabial region (HP:0005289) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandEpistaxis (HP:0000421) help
..expandNasal congestion (HP:0001742) help
..expandRhinitis (HP:0012384) 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:0012808HP:0012808Abnormal nasal base norphology0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia1
HP:0012808HP:0012808Abnormal nasal base norphology0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0012808HP:0012808Abnormal nasal base norphology0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0012808HP:0012808Abnormal nasal base norphology0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0012808HP:0012808Abnormal nasal base norphology0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0012808HP:0012808Abnormal nasal base norphology0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0012808HP:0012808Abnormal nasal base norphology0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0012808HP:0012808Abnormal nasal base norphology0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0012808HP:0012808Abnormal nasal base norphology0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0012808HP:0012808Abnormal nasal base norphology0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0012808HP:0012808Abnormal nasal base norphology0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0012808HP:0012808Abnormal nasal base norphology0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012808HP:0012808Abnormal nasal base norphology0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0012808HP:0012808Abnormal nasal base norphology0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0012808HP:0012808Abnormal nasal base norphology0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0012808HP:0012808Abnormal nasal base norphology0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0012808HP:0012808Abnormal nasal base norphology0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome14
HP:0012808HP:0012808Abnormal nasal base norphology0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0012808HP:0012808Abnormal nasal base norphology0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0012808HP:0012808Abnormal nasal base norphology0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0012808HP:0012808Abnormal nasal base norphology0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0012808HP:0012808Abnormal nasal base norphology0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0012808HP:0012808Abnormal nasal base norphology0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0012808HP:0012810Wide nasal base1ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasiaHP:0040283 - Occasional1
HP:0012808HP:0012810Wide nasal base1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0012808HP:0012810Wide nasal base1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0012808HP:0012810Wide nasal base1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0012808HP:0012810Wide nasal base1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0012808HP:0012810Wide nasal base1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0012808HP:0012810Wide nasal base1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0012808HP:0012810Wide nasal base1EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0012808HP:0012809Narrow nasal base1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0012808HP:0012810Wide nasal base1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0012808HP:0012810Wide nasal base1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0012808HP:0012810Wide nasal base1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012808HP:0012809Narrow nasal base1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0012808HP:0012810Wide nasal base1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0012808HP:0012810Wide nasal base1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0012808HP:0012810Wide nasal base1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0012808HP:0012810Wide nasal base1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0012808HP:0012810Wide nasal base1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0012808HP:0012810Wide nasal base1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0012808HP:0012810Wide nasal base1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0012808HP:0012810Wide nasal base1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0012808HP:0012810Wide nasal base1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0012808HP:0012810Wide nasal base1SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0012808HP:0012810Wide nasal base1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0012808HP:0012810Wide nasal base1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0012808HP:0012810Wide nasal base1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0012808HP:0012810Wide nasal base1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0012808HP:0012810Wide nasal base1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0012808HP:0012809Narrow nasal base1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6


Genes (27) :ABCA5 ARID1A ARID1B ARID2 ATP6V1B2 BCORL1 DPF2 EXOSC2 FIG4 KMT5B LIFR METTL5 MYT1L SIN3A SLC26A2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOX11 SOX4 TBC1D24 USP9X VAC14

Diseases (16) :OMIM:135400 ORPHA:1465 ORPHA:79500 OMIM:301029 OMIM:617763 ORPHA:3472 OMIM:617788 OMIM:601559 OMIM:618665 OMIM:616521 ORPHA:94065 ORPHA:56304 OMIM:601358 ORPHA:397709 OMIM:616354 ORPHA:480880
 

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