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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Chin with horizontal crease (HP:0011823)help
Term ID: 11823
Name: Chin with horizontal crease
Synonym: Chin with horizontal crease; Chin with horizontal furrow; Chin with horizontal groove; Chin with horizontal sulcus; Horizontal chin skin cleft; Horizontal menton crease
Definition: Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
Comments:
Reference: HP:0011823
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 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
..expandShort chin (HP:0000331) 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:0011823HP:0011823Chin with horizontal crease0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0011823HP:0011823Chin with horizontal crease0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0011823HP:0011823Chin with horizontal crease0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0011823HP:0011823Chin with horizontal crease0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0011823HP:0011823Chin with horizontal crease0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0011823HP:0011823Chin with horizontal crease0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0011823HP:0011823Chin with horizontal crease0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0011823HP:0011823Chin with horizontal crease0SCNM1 CL E G H7900523136OMIM:620107
HP:0011823HP:0011823Chin with horizontal crease0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0011823HP:0011823Chin with horizontal crease0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37


Genes (10) :CDH11 DLK1 EED FOXP1 MEG3 NAA10 RTL1 SCNM1 TRPS1 TWIST2

Diseases (8) :OMIM:619736 ORPHA:96334 OMIM:617561 ORPHA:391372 OMIM:300855 OMIM:620107 OMIM:190350 OMIM:227260
 

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