Human Phenotype Ontology 
Grandparent Node:
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Abnormality of head or neck (HP:0000152)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
..Starting node
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Long neck (HP:0000472)help
Term ID: 472
Name: Long neck
Synonym: Cervical elongation; Elongated neck; Increased cervical length; Increased length of neck; Long neck
Definition: Increased inferior-superior length of the neck.
Comments:
Reference: HP:0000472
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal neck blood vessel morphology (HP:3000037) help
..expandBranchial anomaly (HP:0009794) help
..expandBroad neck (HP:0000475) help
..expandCystic hygroma (HP:0000476) help
..expandIncreased adipose tissue around the neck (HP:0000468) help
..expandLimitation of neck motion (HP:0005986) help
..expandLow posterior hairline (HP:0002162) help
..expandNeck muscle hypoplasia (HP:0008984) help
..expandRedundant neck skin (HP:0005989) help
..expandShort neck (HP:0000470) help
..expandThickened nuchal skin fold (HP:0000474) help
..expandWebbed neck (HP:0000465) 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:0000472HP:0000472Long neck0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000472HP:0000472Long neck0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000472HP:0000472Long neck0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0000472HP:0000472Long neck0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000472HP:0000472Long neck0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000472HP:0000472Long neck0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000472HP:0000472Long neck0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138


Genes (6) :ATP7A EBP EYA1 FLNA HERC1 POLR3A

Diseases (7) :OMIM:304150 ORPHA:401973 OMIM:166780 OMIM:309350 OMIM:617011 ORPHA:457359 OMIM:264090
 

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