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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Broad forehead (HP:0000337)help
Term ID: 337
Name: Broad forehead
Synonym: Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead
Definition: Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Comments:
Reference: HP:0000337
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
..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
..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:0000337HP:0000337Broad forehead0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0000337HP:0000337Broad forehead0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000337HP:0000337Broad forehead0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000337HP:0000337Broad forehead0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040282 - Frequent1
HP:0000337HP:0000337Broad forehead0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000337HP:0000337Broad forehead0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000337HP:0000337Broad forehead0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000337HP:0000337Broad forehead0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0000337HP:0000337Broad forehead0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000337HP:0000337Broad forehead0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000337HP:0000337Broad forehead0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000337HP:0000337Broad forehead0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000337HP:0000337Broad forehead0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000337HP:0000337Broad forehead0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000337HP:0000337Broad forehead0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000337HP:0000337Broad forehead0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000337HP:0000337Broad forehead0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000337HP:0000337Broad forehead0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000337HP:0000337Broad forehead0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040282 - Frequent147
HP:0000337HP:0000337Broad forehead0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0000337HP:0000337Broad forehead0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0000337HP:0000337Broad forehead0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations.7
HP:0000337HP:0000337Broad forehead0CDC42BPB CL E G H95781738OMIM:619841
HP:0000337HP:0000337Broad forehead0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000337HP:0000337Broad forehead0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000337HP:0000337Broad forehead0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0000337HP:0000337Broad forehead0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0000337HP:0000337Broad forehead0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000337HP:0000337Broad forehead0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040282 - Frequent165
HP:0000337HP:0000337Broad forehead0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000337HP:0000337Broad forehead0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocationsHP:0040282 - Frequent165
HP:0000337HP:0000337Broad forehead0CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent5
HP:0000337HP:0000337Broad forehead0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000337HP:0000337Broad forehead0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0000337HP:0000337Broad forehead0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000337HP:0000337Broad forehead0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0000337HP:0000337Broad forehead0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000337HP:0000337Broad forehead0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000337HP:0000337Broad forehead0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000337HP:0000337Broad forehead0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000337HP:0000337Broad forehead0DPH5 CL E G H5161124270OMIM:620070
HP:0000337HP:0000337Broad forehead0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000337HP:0000337Broad forehead0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000337HP:0000337Broad forehead0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000337HP:0000337Broad forehead0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000337HP:0000337Broad forehead0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000337HP:0000337Broad forehead0EMC10 CL E G H28436127609OMIM:619264NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0000337HP:0000337Broad forehead0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000337HP:0000337Broad forehead0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040282 - Frequent114
HP:0000337HP:0000337Broad forehead0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000337HP:0000337Broad forehead0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000337HP:0000337Broad forehead0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000337HP:0000337Broad forehead0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040281 - Very frequent175
HP:0000337HP:0000337Broad forehead0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000337HP:0000337Broad forehead0FGFR3 CL E G H22613690ORPHA:35099Isolated brachycephalyHP:0040281 - Very frequent145
HP:0000337HP:0000337Broad forehead0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000337HP:0000337Broad forehead0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000337HP:0000337Broad forehead0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0000337HP:0000337Broad forehead0FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0000337HP:0000337Broad forehead0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000337HP:0000337Broad forehead0GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent87
HP:0000337HP:0000337Broad forehead0GATA4 CL E G H26264173OMIM:187500Tetralogy of Fallot.87
HP:0000337HP:0000337Broad forehead0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent10
HP:0000337HP:0000337Broad forehead0GATA6 CL E G H26274174OMIM:187500Tetralogy of Fallot.37
HP:0000337HP:0000337Broad forehead0GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent37
HP:0000337HP:0000337Broad forehead0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000337HP:0000337Broad forehead0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040282 - Frequent33
HP:0000337HP:0000337Broad forehead0GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent28
HP:0000337HP:0000337Broad forehead0GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent39
HP:0000337HP:0000337Broad forehead0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000337HP:0000337Broad forehead0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000337HP:0000337Broad forehead0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000337HP:0000337Broad forehead0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000337HP:0000337Broad forehead0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000337HP:0000337Broad forehead0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000337HP:0000337Broad forehead0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000337HP:0000337Broad forehead0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0000337HP:0000337Broad forehead0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000337HP:0000337Broad forehead0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000337HP:0000337Broad forehead0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000337HP:0000337Broad forehead0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent257
HP:0000337HP:0000337Broad forehead0JAG1 CL E G H1826188OMIM:187500Tetralogy of Fallot.257
HP:0000337HP:0000337Broad forehead0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000337HP:0000337Broad forehead0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000337HP:0000337Broad forehead0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000337HP:0000337Broad forehead0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0000337HP:0000337Broad forehead0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0000337HP:0000337Broad forehead0KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent40
HP:0000337HP:0000337Broad forehead0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000337HP:0000337Broad forehead0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0000337HP:0000337Broad forehead0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000337HP:0000337Broad forehead0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040282 - Frequent289
HP:0000337HP:0000337Broad forehead0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040281 - Very frequent125
HP:0000337HP:0000337Broad forehead0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000337HP:0000337Broad forehead0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000337HP:0000337Broad forehead0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0000337HP:0000337Broad forehead0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000337HP:0000337Broad forehead0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000337HP:0000337Broad forehead0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000337HP:0000337Broad forehead0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000337HP:0000337Broad forehead0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040281 - Very frequent132
HP:0000337HP:0000337Broad forehead0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000337HP:0000337Broad forehead0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000337HP:0000337Broad forehead0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000337HP:0000337Broad forehead0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0000337HP:0000337Broad forehead0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000337HP:0000337Broad forehead0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000337HP:0000337Broad forehead0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000337HP:0000337Broad forehead0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000337HP:0000337Broad forehead0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000337HP:0000337Broad forehead0NFIA CL E G H47747784OMIM:613735Brain malformations with or without urinary tract defects.12
HP:0000337HP:0000337Broad forehead0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000337HP:0000337Broad forehead0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0000337HP:0000337Broad forehead0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0000337HP:0000337Broad forehead0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent90
HP:0000337HP:0000337Broad forehead0NKX2-5 CL E G H14822488OMIM:187500Tetralogy of Fallot.90
HP:0000337HP:0000337Broad forehead0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent3
HP:0000337HP:0000337Broad forehead0NOTCH2 CL E G H48537882OMIM:610205Alagille syndrome 2138
HP:0000337HP:0000337Broad forehead0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0000337HP:0000337Broad forehead0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000337HP:0000337Broad forehead0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000337HP:0000337Broad forehead0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000337HP:0000337Broad forehead0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0000337HP:0000337Broad forehead0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0000337HP:0000337Broad forehead0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0000337HP:0000337Broad forehead0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000337HP:0000337Broad forehead0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0000337HP:0000337Broad forehead0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000337HP:0000337Broad forehead0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000337HP:0000337Broad forehead0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0000337HP:0000337Broad forehead0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000337HP:0000337Broad forehead0POLE CL E G H54269177OMIM:615139Facial dysmorphism, immunodeficiency, livedo, and short stature.1129
HP:0000337HP:0000337Broad forehead0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000337HP:0000337Broad forehead0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000337HP:0000337Broad forehead0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000337HP:0000337Broad forehead0PRIM1 CL E G H55579369OMIM:620005
HP:0000337HP:0000337Broad forehead0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000337HP:0000337Broad forehead0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040283 - Occasional54
HP:0000337HP:0000337Broad forehead0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0000337HP:0000337Broad forehead0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000337HP:0000337Broad forehead0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0000337HP:0000337Broad forehead0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000337HP:0000337Broad forehead0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB.53
HP:0000337HP:0000337Broad forehead0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0000337HP:0000337Broad forehead0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000337HP:0000337Broad forehead0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040282 - Frequent10
HP:0000337HP:0000337Broad forehead0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000337HP:0000337Broad forehead0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000337HP:0000337Broad forehead0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000337HP:0000337Broad forehead0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000337HP:0000337Broad forehead0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000337HP:0000337Broad forehead0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000337HP:0000337Broad forehead0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0000337HP:0000337Broad forehead0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000337HP:0000337Broad forehead0SCNM1 CL E G H7900523136OMIM:620107
HP:0000337HP:0000337Broad forehead0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040281 - Very frequent143
HP:0000337HP:0000337Broad forehead0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000337HP:0000337Broad forehead0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0000337HP:0000337Broad forehead0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000337HP:0000337Broad forehead0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0000337HP:0000337Broad forehead0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000337HP:0000337Broad forehead0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000337HP:0000337Broad forehead0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0000337HP:0000337Broad forehead0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0000337HP:0000337Broad forehead0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000337HP:0000337Broad forehead0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000337HP:0000337Broad forehead0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000337HP:0000337Broad forehead0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000337HP:0000337Broad forehead0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000337HP:0000337Broad forehead0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000337HP:0000337Broad forehead0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000337HP:0000337Broad forehead0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0000337HP:0000337Broad forehead0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0000337HP:0000337Broad forehead0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0000337HP:0000337Broad forehead0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent32
HP:0000337HP:0000337Broad forehead0TBX1 CL E G H689911592OMIM:187500Tetralogy of Fallot.32
HP:0000337HP:0000337Broad forehead0TCF12 CL E G H693811623ORPHA:35099Isolated brachycephalyHP:0040281 - Very frequent28
HP:0000337HP:0000337Broad forehead0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0000337HP:0000337Broad forehead0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000337HP:0000337Broad forehead0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000337HP:0000337Broad forehead0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000337HP:0000337Broad forehead0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000337HP:0000337Broad forehead0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0000337HP:0000337Broad forehead0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000337HP:0000337Broad forehead0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0000337HP:0000337Broad forehead0TWIST1 CL E G H729112428ORPHA:35099Isolated brachycephalyHP:0040281 - Very frequent18
HP:0000337HP:0000337Broad forehead0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000337HP:0000337Broad forehead0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000337HP:0000337Broad forehead0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000337HP:0000337Broad forehead0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000337HP:0000337Broad forehead0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0000337HP:0000337Broad forehead0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000337HP:0000337Broad forehead0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0000337HP:0000337Broad forehead0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040281 - Very frequent7
HP:0000337HP:0000337Broad forehead0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000337HP:0000337Broad forehead0ZFPM2 CL E G H2341416700OMIM:187500Tetralogy of Fallot.31
HP:0000337HP:0000337Broad forehead0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040281 - Very frequent31
HP:0000337HP:0000337Broad forehead0ZIC1 CL E G H754512872ORPHA:35099Isolated brachycephalyHP:0040281 - Very frequent5
HP:0000337HP:0000337Broad forehead0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 5.34


Genes (190) :ABL1 ACTG2 ACTL6B ADAMTS3 AIP ALDH18A1 AMMECR1 ANTXR1 B3GAT3 B4GALT7 BAZ1B BCL7B BMP1 BMP2 BRAF BRPF1 BUD23 CAMTA1 CASK CCBE1 CCDC22 CCDC8 CCNQ CDC42BPB CDH11 CDH2 CDKL5 CHST14 CHST3 CITED2 CKAP2L CLIP2 COLEC11 CUL7 DEAF1 DLK1 DLL3 DNAJC30 DNMT3A DPH5 EBF3 EED EIF4H ELN EMC10 EZH2 FAT4 FBLN5 FBN1 FGD1 FGF10 FGFR2 FGFR3 FKBP6 FLCN FLII FLNA FLT4 FUT8 GATA4 GATA5 GATA6 GATAD2B GDF1 GJA5 GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTF2IRD2 HBA1 HBA2 HES7 HOXB1 HRAS IDH1 IFIH1 IGBP1 IQSEC2 JAG1 KANSL1 KCNH1 KCNJ2 KCNJ5 KDR KIF7 KRAS LFNG LIMK1 LRP2 LRP5 MADD MAN2B1 MAP2K1 MBD5 MED13L MEF2C MEG3 MESP2 METTL27 MKS1 MLXIPL NAA10 NARS1 NCF1 NF1 NFIA NFIX NIPA1 NIPA2 NKX2-5 NKX2-6 NOTCH2 NRAS NSD1 OBSL1 ODC1 PAK1 PCGF2 PEX3 PIGN PIGU PIK3CA POGZ POLE POLR3A PPM1D PPP2CA PRIM1 PRKACB PSPH PTDSS1 PTEN PTPN11 PYCR1 RAI1 RBM8A RECQL4 RFC2 RIPPLY2 RLIM RNF135 RPL10 RTL1 RUNX2 SATB2 SCNM1 SETBP1 SH2B1 SH3PXD2B SHOC2 SIM1 SIN3A SKIC2 SKIC3 SLC25A24 SLC6A8 SMAD2 SPTBN1 STEEP1 STX1A SUZ12 TAB2 TAFAZZIN TBC1D7 TBCK TBL2 TBX1 TCF12 TCTN2 TENT5A TET3 TFAP2B THOC2 THOC6 TMEM270 TTC5 TUBG1 TWIST1 UNC80 VPS37D WAC WASHC5 WBP11 YY1 ZBTB20 ZFPM2 ZIC1 ZIC2

Diseases (153) :OMIM:617602 ORPHA:2604 OMIM:618470 ORPHA:2136 ORPHA:963 ORPHA:90348 OMIM:616603 OMIM:300990 ORPHA:2067 OMIM:245600 OMIM:130070 ORPHA:904 OMIM:614856 OMIM:617877 OMIM:163950 OMIM:617333 OMIM:614756 ORPHA:163937 OMIM:235510 OMIM:300963 ORPHA:2616 OMIM:300707 OMIM:619841 OMIM:211380 OMIM:618929 ORPHA:505652 OMIM:300672 OMIM:601776 ORPHA:263463 OMIM:143095 ORPHA:3303 OMIM:272440 ORPHA:3255 OMIM:265050 ORPHA:819 ORPHA:254528 ORPHA:2311 OMIM:618724 OMIM:620070 OMIM:617330 OMIM:617561 ORPHA:3447 OMIM:619264 OMIM:616914 ORPHA:915 OMIM:149730 OMIM:101200 ORPHA:87 ORPHA:35099 OMIM:610883 ORPHA:90652 OMIM:618005 OMIM:187500 OMIM:615074 ORPHA:363686 OMIM:312870 ORPHA:2662 ORPHA:98791 OMIM:614744 OMIM:137550 ORPHA:99646 OMIM:182250 OMIM:300472 OMIM:118450 OMIM:610443 OMIM:135500 OMIM:170390 ORPHA:37553 OMIM:200990 OMIM:615278 ORPHA:2143 ORPHA:178377 OMIM:619005 OMIM:248500 ORPHA:309282 ORPHA:228402 OMIM:156200 ORPHA:369891 ORPHA:228384 OMIM:613443 OMIM:617121 OMIM:249000 OMIM:300855 OMIM:619092 ORPHA:97685 OMIM:613735 OMIM:602535 ORPHA:261183 OMIM:610205 OMIM:613224 OMIM:117550 ORPHA:544488 OMIM:618158 OMIM:618371 OMIM:614882 ORPHA:2059 OMIM:618590 OMIM:602501 OMIM:616364 OMIM:615139 ORPHA:3455 OMIM:617450 OMIM:618354 OMIM:620005 OMIM:619143 ORPHA:79350 ORPHA:2658 OMIM:151050 OMIM:605309 OMIM:612940 ORPHA:1713 ORPHA:3320 ORPHA:1225 OMIM:300978 ORPHA:137634 ORPHA:459070 ORPHA:1452 OMIM:612313 OMIM:620107 ORPHA:798 ORPHA:261197 ORPHA:137834 OMIM:607721 ORPHA:171829 OMIM:613406 ORPHA:84064 OMIM:222470 OMIM:612289 ORPHA:2963 OMIM:300352 OMIM:619657 OMIM:619475 OMIM:301013 ORPHA:228410 OMIM:302060 OMIM:248000 ORPHA:488632 OMIM:613885 OMIM:617952 OMIM:618798 OMIM:169100 ORPHA:457240 ORPHA:363444 OMIM:619244 OMIM:616801 OMIM:616708 ORPHA:466950 OMIM:220210 OMIM:619227 OMIM:617557 ORPHA:506358 OMIM:259050 OMIM:609637
 

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