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 forehead (HP:0000290)help
..Starting node
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Flat forehead (HP:0004425)help
Term ID: 4425
Name: Flat forehead
Synonym: Flat forehead; Flattened forehead; Frontal flattening
Definition: A forehead with abnormal flatness.
Comments:
Reference: HP:0004425
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of frontalis muscle belly (HP:3000004) help
..expandAbnormality of the frontal hairline (HP:0000599) help
..expandAbnormality of the glabella (HP:0002056) help
..expandAbnormality of the metopic suture (HP:0005556) help
..expandBroad forehead (HP:0000337) help
..expandForehead hyperpigmentation (HP:0005336) help
..expandFrontal bossing (HP:0002007) help
..expandFrontal hirsutism (HP:0011335) help
..expandHigh forehead (HP:0000348) help
..expandLarge forehead (HP:0002003) help
..expandNarrow forehead (HP:0000341) help
..expandProminent forehead (HP:0011220) help
..expandSloping forehead (HP:0000340) help
..expandSmall forehead (HP:0000350) help
..expandVertical forehead creases (HP:0011221) 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:0004425HP:0004425Flat forehead0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0004425HP:0004425Flat forehead0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0004425HP:0004425Flat forehead0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0004425HP:0004425Flat forehead0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0004425HP:0004425Flat forehead0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0004425HP:0004425Flat forehead0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0004425HP:0004425Flat forehead0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0004425HP:0004425Flat forehead0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies.8
HP:0004425HP:0004425Flat forehead0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0004425HP:0004425Flat forehead0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040283 - Occasional1
HP:0004425HP:0004425Flat forehead0LRP5 CL E G H40416697OMIM:144750Hyperostosis, endosteal.125
HP:0004425HP:0004425Flat forehead0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040283 - Occasional9
HP:0004425HP:0004425Flat forehead0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0004425HP:0004425Flat forehead0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18


Genes (14) :B4GALT7 CAMK2G CHST14 COG7 EXT2 FGFR2 IARS2 IL11RA KCNH1 KNSTRN LRP5 PIK3CD RECQL4 TWIST1

Diseases (12) :OMIM:130070 OMIM:618522 OMIM:601776 OMIM:608779 ORPHA:466926 OMIM:101400 OMIM:616007 OMIM:614188 OMIM:611816 ORPHA:221139 OMIM:144750 OMIM:218600
 

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