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 chin (HP:0000306)help
..Starting node
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Short chin (HP:0000331)help
Term ID: 331
Name: Short chin
Synonym: Decreased height of chin; Short chin; Short lower third of face; Small chin; Vertical deficiency of chin; Vertical hypoplasia of chin
Definition: Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Comments:
Reference: HP:0000331
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of depressor labii inferioris (HP:3000029) help
..expandAbnormality of mentalis muscle (HP:3000007) help
..expandBroad chin (HP:0011822) help
..expandChin with H-shaped crease (HP:0011824) help
..expandChin with horizontal crease (HP:0011823) help
..expandChin with vertical crease (HP:0400001) help
..expandCleft of chin (HP:0011323) help
..expandDimple chin (HP:0010751) help
..expandMandibular prognathia (HP:0000303) help
..expandPointed chin (HP:0000307) help
..expandTall chin (HP:0400000) 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:0000331HP:0000331Short chin0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000331HP:0000331Short chin0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000331HP:0000331Short chin0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0000331HP:0000331Short chin0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000331HP:0000331Short chin0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000331HP:0000331Short chin0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000331HP:0000331Short chin0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0000331HP:0000331Short chin0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000331HP:0000331Short chin0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000331HP:0000331Short chin0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0000331HP:0000331Short chin0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040282 - Frequent6
HP:0000331HP:0000331Short chin0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0000331HP:0000331Short chin0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000331HP:0000331Short chin0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VIHP:0040283 - Occasional108
HP:0000331HP:0000331Short chin0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000331HP:0000331Short chin0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000331HP:0000331Short chin0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000331HP:0000331Short chin0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000331HP:0000331Short chin0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000331HP:0000331Short chin0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000331HP:0000331Short chin0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000331HP:0000331Short chin0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000331HP:0000331Short chin0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000331HP:0000331Short chin0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000331HP:0000331Short chin0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 458
HP:0000331HP:0000331Short chin0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0000331HP:0000331Short chin0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000331HP:0000331Short chin0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000331HP:0000331Short chin0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040281 - Very frequent4
HP:0000331HP:0000331Short chin0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040281 - Very frequent9
HP:0000331HP:0000331Short chin0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000331HP:0000331Short chin0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0000331HP:0000331Short chin0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000331HP:0000331Short chin0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000331HP:0000331Short chin0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0000331HP:0000331Short chin0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000331HP:0000331Short chin0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0000331HP:0000331Short chin0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000331HP:0000331Short chin0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0000331HP:0000331Short chin0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000331HP:0000331Short chin0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000331HP:0000331Short chin0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0000331HP:0000331Short chin0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0000331HP:0000331Short chin0NRCAM CL E G H48977994OMIM:6198332
HP:0000331HP:0000331Short chin0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000331HP:0000331Short chin0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000331HP:0000331Short chin0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0000331HP:0000331Short chin0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0000331HP:0000331Short chin0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000331HP:0000331Short chin0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000331HP:0000331Short chin0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000331HP:0000331Short chin0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0000331HP:0000331Short chin0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0000331HP:0000331Short chin0PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeHP:0040281 - Very frequent22
HP:0000331HP:0000331Short chin0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000331HP:0000331Short chin0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000331HP:0000331Short chin0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0000331HP:0000331Short chin0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0000331HP:0000331Short chin0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000331HP:0000331Short chin0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0000331HP:0000331Short chin0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.53
HP:0000331HP:0000331Short chin0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0000331HP:0000331Short chin0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000331HP:0000331Short chin0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000331HP:0000331Short chin0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000331HP:0000331Short chin0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0000331HP:0000331Short chin0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000331HP:0000331Short chin0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0000331HP:0000331Short chin0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0000331HP:0000331Short chin0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643


Genes (61) :ABL1 ALDH1A2 ALG13 AP1S2 ARID1B ASXL3 BMPR1A CAMK2B CDK10 COA6 COX7B CYP26C1 DDR2 DST EBF3 EDA ERCC1 ERCC4 ERCC6 ERCC8 FBXO31 FIG4 FLNA GRB10 H19 IGF2 ITCH LMNA MAN1B1 MAP3K7 MBD5 MED12 MEF2C MTOR MYOD1 NDUFS4 NFIA NRCAM NSD2 NSUN2 PAPPA2 PARS2 PIGS PPP1R21 PRKDC PTEN PTF1A RECQL4 RNF13 RNU4ATAC SCUBE3 SET SHANK3 SLC26A2 SOX11 TRIO VAC14 XRCC4 ZBTB24 ZMPSTE24 ZNF292

Diseases (61) :OMIM:617602 OMIM:620025 ORPHA:324422 ORPHA:85329 OMIM:135900 OMIM:615485 ORPHA:79076 OMIM:617799 OMIM:617694 OMIM:616501 OMIM:300887 ORPHA:398189 OMIM:618175 OMIM:614653 OMIM:617330 OMIM:305100 ORPHA:90322 ORPHA:90321 ORPHA:90324 OMIM:615979 ORPHA:3472 OMIM:305620 ORPHA:96182 ORPHA:231140 OMIM:613385 ORPHA:228426 ORPHA:740 ORPHA:397941 OMIM:617137 OMIM:156200 ORPHA:93932 OMIM:613443 ORPHA:457485 OMIM:616638 OMIM:618975 OMIM:252010 OMIM:613735 OMIM:619833 OMIM:619695 OMIM:611091 OMIM:619489 OMIM:618437 OMIM:618143 OMIM:619383 OMIM:615966 OMIM:609069 ORPHA:65288 OMIM:266280 OMIM:618379 ORPHA:544503 OMIM:210710 OMIM:619184 OMIM:618106 OMIM:606232 OMIM:222600 OMIM:615866 OMIM:618825 OMIM:617061 OMIM:616541 OMIM:614069 OMIM:619188
 

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