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 H-shaped crease (HP:0011824)help
Term ID: 11824
Name: Chin with H-shaped crease
Synonym: Chin with H-shaped crease; Chin, H-Shaped Crease; Chin, H-shaped groove; H-shaped dimple of the chin
Definition: H-shaped crease in the fat pad of the chin.
Comments:
Reference: HP:0011824
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 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
..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:0011824HP:0011824Chin with H-shaped crease0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011824HP:0011824Chin with H-shaped crease0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011824HP:0011824Chin with H-shaped crease0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0011824HP:0011824Chin with H-shaped crease0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0011824HP:0011824Chin with H-shaped crease0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional


Genes (5) :DLK1 MEG3 MYH3 NALCN RTL1

Diseases (3) :ORPHA:96334 OMIM:193700 OMIM:616266
 

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