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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Large forehead (HP:0002003)help
Term ID: 2003
Name: Large forehead
Synonym: Hyperplasia of forehead; Hypertrophy of forehead; Increased size of forehead; Increased size of frontal region of face; Large forehead
Definition:
Comments:
Reference: HP:0002003
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
..expandFlat forehead (HP:0004425) help
..expandForehead hyperpigmentation (HP:0005336) help
..expandFrontal bossing (HP:0002007) help
..expandFrontal hirsutism (HP:0011335) help
..expandHigh forehead (HP:0000348) 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:0002003HP:0002003Large forehead0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0002003HP:0002003Large forehead0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0002003HP:0002003Large forehead0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0002003HP:0002003Large forehead0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardationHP:0040283 - Occasional34
HP:0002003HP:0002003Large forehead0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0002003HP:0002003Large forehead0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0002003HP:0002003Large forehead0FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0002003HP:0002003Large forehead0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0002003HP:0002003Large forehead0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0002003HP:0002003Large forehead0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002003HP:0002003Large forehead0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0002003HP:0002003Large forehead0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0002003HP:0002003Large forehead0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0002003HP:0002003Large forehead0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0002003HP:0002003Large forehead0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0002003HP:0002003Large forehead0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0002003HP:0002003Large forehead0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0002003HP:0002003Large forehead0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0002003HP:0002003Large forehead0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0002003HP:0002003Large forehead0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002003HP:0002003Large forehead0SRC CL E G H671411283OMIM:616937Thrombocytopenia 615
HP:0002003HP:0002003Large forehead0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0002003HP:0002003Large forehead0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent237
HP:0002003HP:0002003Large forehead0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0002003HP:0002003Large forehead0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002003HP:0002003Large forehead0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002003HP:0002003Large forehead0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002003HP:0002003Large forehead0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002003HP:0002003Large forehead0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (27) :AMMECR1 ARID2 BMPR1A CAMTA1 COL25A1 FLNA FMR1 GNB2 HS6ST2 LEMD2 LMX1B MEIS2 ODC1 PDE4D POU4F1 PTEN RNF125 SPOP SRC STRADA STXBP1 SUMF1 TAOK1 TOE1 UNC45A VPS33A ZFHX4

Diseases (25) :OMIM:300990 OMIM:617808 ORPHA:79076 OMIM:614756 ORPHA:314647 ORPHA:91411 OMIM:300321 OMIM:300624 ORPHA:908 OMIM:619503 OMIM:301025 OMIM:619322 ORPHA:495818 OMIM:600987 ORPHA:544488 ORPHA:439822 OMIM:616260 OMIM:618829 OMIM:616937 OMIM:611087 OMIM:272200 OMIM:619575 OMIM:614969 OMIM:619377 OMIM:617303
 

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