Human Phenotype Ontology 
Grandparent Node:
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Cutis laxa (HP:0000973)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
Parent Node:
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Redundant skin (HP:0001582)help
..Starting node
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Redundant neck skin (HP:0005989)help
Term ID: 5989
Name: Redundant neck skin
Synonym: Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck
Definition: Excess skin around the neck, often lying in horizontal folds.
Comments:
Reference: HP:0005989
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandRedundant skin in infancy (HP:0007595) help
..expandRedundant skin on fingers (HP:0007516) 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:0005989HP:0005989Redundant neck skin0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0005989HP:0005989Redundant neck skin0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0005989HP:0005989Redundant neck skin0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0005989HP:0005989Redundant neck skin0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0005989HP:0005989Redundant neck skin0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0005989HP:0005989Redundant neck skin0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0005989HP:0005989Redundant neck skin0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0005989HP:0005989Redundant neck skin0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0005989HP:0005989Redundant neck skin0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0005989HP:0005989Redundant neck skin0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005989HP:0005989Redundant neck skin0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0005989HP:0005989Redundant neck skin0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0005989HP:0005989Redundant neck skin0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0005989HP:0005989Redundant neck skin0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0005989HP:0005989Redundant neck skin0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0005989HP:0005989Redundant neck skin0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0005989HP:0005989Redundant neck skin0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0005989HP:0005989Redundant neck skin0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0005989HP:0005989Redundant neck skin0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0005989HP:0005989Redundant neck skin0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005989HP:0005989Redundant neck skin0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0005989HP:0005989Redundant neck skin0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0005989HP:0005989Redundant neck skin0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0005989HP:0005989Redundant neck skin0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0005989HP:0005989Redundant neck skin0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0005989HP:0005989Redundant neck skin0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0005989HP:0005989Redundant neck skin0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0005989HP:0005989Redundant neck skin0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0005989HP:0005989Redundant neck skin0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0005989HP:0005989Redundant neck skin0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040282 - Frequent5
HP:0005989HP:0005989Redundant neck skin0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0005989HP:0005989Redundant neck skin0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0005989HP:0005989Redundant neck skin0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27


Genes (29) :ALDH18A1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 CDK13 CEP55 CSPP1 DLK1 ELN FBLN5 FGFR2 FIG4 GATA1 HRAS KIAA0586 MEG3 MRPS16 MRPS22 NAA10 NDUFB10 OTUD5 PEX1 RTL1 SH3PXD2B TBX15 VAC14 WDR37 WDR81

Diseases (23) :ORPHA:90348 ORPHA:357074 ORPHA:79332 OMIM:617360 OMIM:236500 ORPHA:397715 ORPHA:254528 ORPHA:96334 OMIM:123790 ORPHA:3472 OMIM:216340 OMIM:190685 OMIM:218040 OMIM:610498 OMIM:611719 OMIM:300855 OMIM:619003 OMIM:301056 OMIM:214100 OMIM:249420 ORPHA:93333 OMIM:618652 OMIM:617967
 

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