Human Phenotype Ontology 
Grandparent Node:
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Abnormal external nose morphology (HP:0010938)help
Parent Node:
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Abnormal columella morphology (HP:0009929)help
..Starting node
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Short columella (HP:0002000)help
Term ID: 2000
Name: Short columella
Synonym: Columella, short; Decreased length of columella; Hypoplasia of columella
Definition: Reduced distance from the anterior border of the naris to the subnasale.
Comments:
Reference: HP:0002000
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad columella (HP:0010761) help
..expandHigh insertion of columella (HP:0012807) help
..expandLow hanging columella (HP:0009765) help
..expandLow insertion of columella (HP:0010763) 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:0002000HP:0002000Short columella0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0002000HP:0002000Short columella0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0002000HP:0002000Short columella0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0002000HP:0002000Short columella0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0002000HP:0002000Short columella0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002000HP:0002000Short columella0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0002000HP:0002000Short columella0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0002000HP:0002000Short columella0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0002000HP:0002000Short columella0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0002000HP:0002000Short columella0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002000HP:0002000Short columella0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0002000HP:0002000Short columella0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0002000HP:0002000Short columella0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0002000HP:0002000Short columella0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002000HP:0002000Short columella0ERF CL E G H20773444OMIM:617180Chitayat syndrome.12
HP:0002000HP:0002000Short columella0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome13
HP:0002000HP:0002000Short columella0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndromeHP:0040283 - Occasional11
HP:0002000HP:0002000Short columella0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0002000HP:0002000Short columella0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0002000HP:0002000Short columella0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0002000HP:0002000Short columella0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040282 - Frequent106
HP:0002000HP:0002000Short columella0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002000HP:0002000Short columella0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002000HP:0002000Short columella0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0002000HP:0002000Short columella0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0002000HP:0002000Short columella0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0002000HP:0002000Short columella0SCNM1 CL E G H7900523136OMIM:620107
HP:0002000HP:0002000Short columella0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0002000HP:0002000Short columella0THUMPD1 CL E G H5562323807OMIM:619989
HP:0002000HP:0002000Short columella0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18


Genes (26) :ACTB ACTG1 ALX3 ARSL ASXL3 B3GLCT CENPF CHST14 CREBBP CTCF DNMT3A EP300 ERF KCNH1 KCTD1 KDM6A KMT2D LMBR1 MAN2C1 MBD5 NAA10 NALCN SCNM1 SHH THUMPD1 TWIST1

Diseases (27) :ORPHA:2995 OMIM:136760 ORPHA:79345 OMIM:615485 ORPHA:709 OMIM:243605 OMIM:601776 OMIM:618332 OMIM:180849 ORPHA:363611 OMIM:615879 ORPHA:404443 OMIM:617180 OMIM:611816 OMIM:181270 ORPHA:2322 OMIM:300867 ORPHA:2378 OMIM:619775 OMIM:156200 OMIM:300855 ORPHA:276432 OMIM:616266 OMIM:620107 OMIM:142945 OMIM:619989 OMIM:617746
 

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