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: |
..Abnormality of frontalis muscle belly (HP:3000004)
|
..Abnormality of the frontal hairline (HP:0000599)
|
..Abnormality of the glabella (HP:0002056)
|
..Abnormality of the metopic suture (HP:0005556)
|
..Broad forehead (HP:0000337)
|
..Flat forehead (HP:0004425)
|
..Forehead hyperpigmentation (HP:0005336)
|
..Frontal bossing (HP:0002007)
|
..Frontal hirsutism (HP:0011335)
|
..High forehead (HP:0000348)
|
..Narrow forehead (HP:0000341)
|
..Prominent forehead (HP:0011220)
|
..Sloping forehead (HP:0000340)
|
..Small forehead (HP:0000350)
|
..Vertical forehead creases (HP:0011221)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0002003 | HP:0002003 | Large forehead | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | . | | | 25 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | HP:0040283 - Occasional | | | 34 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | 34 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300321 | Fg syndrome 2 | | | | 493 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | | HP:0002003 | HP:0002003 | Large forehead | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | | HP:0002003 | HP:0002003 | Large forehead | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 165 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | MEIS2 CL E G H | 4212 | 7001 | OMIM:600987 | Cleft palate, cardiac defects, and mental retardation | . | | | 7 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | | | | HP:0002003 | HP:0002003 | Large forehead | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | SRC CL E G H | 6714 | 11283 | OMIM:616937 | Thrombocytopenia 6 | | | | 15 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040281 - Very frequent | | | 237 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | | HP:0002003 | HP:0002003 | Large forehead | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | | HP:0002003 | HP:0002003 | Large forehead | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | | HP:0002003 | HP:0002003 | Large forehead | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital 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.
|