以 HPO 交叉檢視

HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。

搜尋 HPO

Frontal bossing

HP:0002007

對應病歷用詞(0)

尚無對應用詞。

具此 HPO 的疾病（附加參考）(236)

17p13.3 microduplication syndromeORPHA:217385 · Very frequent (99-80%)
1q41q42 microdeletion syndromeORPHA:250999 · Very frequent (99-80%)
2p21 microdeletion syndromeORPHA:163693 · Very frequent (99-80%)
3C syndromeORPHA:7 · Very frequent (99-80%)
3M syndromeORPHA:2616 · Very frequent (99-80%)
AchondrogenesisORPHA:932 · Very frequent (99-80%)
Achondrogenesis type 1AORPHA:93299 · Very frequent (99-80%)
Achondrogenesis type 1BORPHA:93298 · Very frequent (99-80%)
Albers-Schönberg osteopetrosisORPHA:53 · Very frequent (99-80%)
Alexander diseaseORPHA:58 · Very frequent (99-80%)
Aniridia-renal agenesis-psychomotor retardation syndromeORPHA:1064 · Very frequent (99-80%)
Antley-Bixler syndromeORPHA:83 · Very frequent (99-80%)
Apert syndromeORPHA:87 · Very frequent (99-80%)
Autosomal recessive omodysplasiaORPHA:93329 · Very frequent (99-80%)
B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeORPHA:536467 · Very frequent (99-80%)
Baller-Gerold syndromeORPHA:1225 · Very frequent (99-80%)
Cenani-Lenz syndromeORPHA:3258 · Very frequent (99-80%)
Cleidocranial dysplasiaORPHA:1452 · Very frequent (99-80%)
Cloverleaf skull-multiple congenital anomalies syndromeORPHA:93267 · Very frequent (99-80%)
Coffin-Lowry syndromeORPHA:192 · Very frequent (99-80%)
Cole-Carpenter syndromeORPHA:2050 · Very frequent (99-80%)
Cooper-Jabs syndromeORPHA:1488 · Very frequent (99-80%)
Craniodiaphyseal dysplasiaORPHA:1513 · Very frequent (99-80%)
Cranioectodermal dysplasiaORPHA:1515 · Very frequent (99-80%)
Craniofrontonasal dysplasiaORPHA:1520 · Very frequent (99-80%)
Craniolenticulosutural dysplasiaORPHA:50814 · Very frequent (99-80%)
Craniosynostosis-anal anomalies-porokeratosis syndromeORPHA:85199 · Very frequent (99-80%)
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeORPHA:1538 · Very frequent (99-80%)
Craniotelencephalic dysplasiaORPHA:1528 · Very frequent (99-80%)
Crouzon syndromeORPHA:207 · Very frequent (99-80%)
Crouzon syndrome-acanthosis nigricans syndromeORPHA:93262 · Very frequent (99-80%)
Cystic fibrosis-gastritis-megaloblastic anemia syndromeORPHA:2575 · Very frequent (99-80%)
Deafness-craniofacial syndromeORPHA:3241 · Very frequent (99-80%)
Delayed membranous cranial ossificationORPHA:3034 · Very frequent (99-80%)
Dermotrichic syndromeORPHA:99688 · Very frequent (99-80%)
Dysmorphism-pectus carinatum-joint laxity syndromeORPHA:2104 · Very frequent (99-80%)
Early-onset parkinsonism-intellectual disability syndromeORPHA:2379 · Very frequent (99-80%)
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndromeORPHA:1812 · Very frequent (99-80%)
Edinburgh malformation syndromeORPHA:1895 · Very frequent (99-80%)
Familial intestinal malrotationORPHA:508410 · Very frequent (99-80%)
Fibulo-ulnar hypoplasia-renal anomalies syndromeORPHA:2256 · Very frequent (99-80%)
GAPO syndromeORPHA:2067 · Very frequent (99-80%)
Grant syndromeORPHA:2097 · Very frequent (99-80%)
Hallermann-Streiff syndromeORPHA:2108 · Very frequent (99-80%)
Hurler syndromeORPHA:93473 · Very frequent (99-80%)
IMAGe syndromeORPHA:85173 · Very frequent (99-80%)
Intellectual disability-polydactyly-uncombable hair syndromeORPHA:3082 · Very frequent (99-80%)
Intellectual disability-short stature-hypertelorism syndromeORPHA:3074 · Very frequent (99-80%)
Isolated megalencephalyORPHA:2477 · Very frequent (99-80%)
Linear nevus sebaceus syndromeORPHA:2612 · Very frequent (99-80%)
Megalocornea-intellectual disability syndromeORPHA:2479 · Very frequent (99-80%)
Microcephalic osteodysplastic dysplasia, Saul-Wilson typeORPHA:85172 · Very frequent (99-80%)
Microphthalmia with limb anomaliesORPHA:1106 · Very frequent (99-80%)
Microphthalmia-microtia-fetal akinesia syndromeORPHA:2547 · Very frequent (99-80%)
Mosaic trisomy 14 syndromeORPHA:1703 · Very frequent (99-80%)
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndromeORPHA:166024 · Very frequent (99-80%)
Non-distal duplication 10q syndromeORPHA:1695 · Very frequent (99-80%)
Non-syndromic bilambdoid and sagittal craniosynostosisORPHA:1516 · Very frequent (99-80%)
OpsismodysplasiaORPHA:2746 · Very frequent (99-80%)
Orofaciodigital syndrome type 1ORPHA:2750 · Very frequent (99-80%)
Pituitary gigantismORPHA:99725 · Very frequent (99-80%)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeORPHA:457395 · Very frequent (99-80%)
PycnodysostosisORPHA:763 · Very frequent (99-80%)
Ring chromosome 10 syndromeORPHA:1438 · Very frequent (99-80%)
Ring chromosome 8 syndromeORPHA:1450 · Very frequent (99-80%)
Schinzel-Giedion syndromeORPHA:798 · Very frequent (99-80%)
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndromeORPHA:1236 · Very frequent (99-80%)
Short stature-craniofacial anomalies-genital hypoplasia syndromeORPHA:2994 · Very frequent (99-80%)
SIX2-related frontonasal dysplasiaORPHA:488437 · Very frequent (99-80%)
Smith-Magenis syndromeORPHA:819 · Very frequent (99-80%)
Thin ribs-tubular bones-dysmorphism syndromeORPHA:1506 · Very frequent (99-80%)
Trichorhinophalangeal syndrome type 1ORPHA:77258 · Very frequent (99-80%)
Trisomy 5p syndromeORPHA:1742 · Very frequent (99-80%)
Unilateral ocular duplicationORPHA:3374 · Very frequent (99-80%)
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndromeORPHA:3207 · Very frequent (99-80%)
Wiedemann-Rautenstrauch syndromeORPHA:3455 · Very frequent (99-80%)
Wolf-Hirschhorn syndromeORPHA:280 · Very frequent (99-80%)
X-linked dominant chondrodysplasia, Chassaing-Lacombe typeORPHA:163966 · Very frequent (99-80%)
Zellweger-like syndrome without peroxisomal anomaliesORPHA:50812 · Very frequent (99-80%)
16p11.2p12.2 microdeletion syndromeORPHA:261211 · Frequent (79-30%)
16q24.3 microdeletion syndromeORPHA:261250 · Frequent (79-30%)
17q23.1q23.2 microdeletion syndromeORPHA:261279 · Frequent (79-30%)
1p31p32 microdeletion syndromeORPHA:401986 · Frequent (79-30%)
1q21.1 microdeletion syndromeORPHA:250989 · Frequent (79-30%)
1q21.1 microduplication syndromeORPHA:250994 · Frequent (79-30%)
20q11.2 microdeletion syndromeORPHA:444051 · Frequent (79-30%)
2q37 microdeletion syndromeORPHA:1001 · Frequent (79-30%)
4q21 microdeletion syndromeORPHA:238750 · Frequent (79-30%)
AchondroplasiaORPHA:15 · Frequent (79-30%)
AcrodysostosisORPHA:950 · Frequent (79-30%)
AcromegalyORPHA:963 · Frequent (79-30%)
Acromesomelic dysplasia, Maroteaux typeORPHA:40 · Frequent (79-30%)
Alagille syndromeORPHA:52 · Frequent (79-30%)
Arachnodactyly-abnormal ossification-intellectual disability syndromeORPHA:1129 · Frequent (79-30%)
Arthrochalasia Ehlers-Danlos syndromeORPHA:1899 · Frequent (79-30%)
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeORPHA:440354 · Frequent (79-30%)
Autosomal dominant omodysplasiaORPHA:93328 · Frequent (79-30%)
Autosomal dominant Robinow syndromeORPHA:3107 · Frequent (79-30%)
Autosomal recessive faciodigitogenital syndromeORPHA:1974 · Frequent (79-30%)
Autosomal recessive Robinow syndromeORPHA:1507 · Frequent (79-30%)
Beta-mercaptolactate cysteine disulfiduriaORPHA:1035 · Frequent (79-30%)
Brachydactyly-preaxial hallux varus syndromeORPHA:1278 · Frequent (79-30%)
Brachymorphism-onychodysplasia-dysphalangism syndromeORPHA:1292 · Frequent (79-30%)
Cardiofaciocutaneous syndromeORPHA:1340 · Frequent (79-30%)
CINCA syndromeORPHA:1451 · Frequent (79-30%)
Congenital hydrocephalusORPHA:2185 · Frequent (79-30%)
Developmental and speech delay due to SOX5 deficiencyORPHA:313892 · Frequent (79-30%)
Diabetic embryopathyORPHA:1926 · Frequent (79-30%)
Distal duplication 17q syndromeORPHA:3379 · Frequent (79-30%)
Distal duplication 6p syndromeORPHA:1745 · Frequent (79-30%)
Filippi syndromeORPHA:3255 · Frequent (79-30%)
Fragile X syndromeORPHA:908 · Frequent (79-30%)
Frontonasal dysplasia-alopecia-genital anomalies syndromeORPHA:228390 · Frequent (79-30%)
Fumaric aciduriaORPHA:24 · Frequent (79-30%)
Greig cephalopolysyndactyly syndromeORPHA:380 · Frequent (79-30%)
Hydrocephaly-tall stature-joint laxity syndromeORPHA:2181 · Frequent (79-30%)
Hypocalcemic vitamin D-dependent ricketsORPHA:289157 · Frequent (79-30%)
Hypotonia-cystinuria syndromeORPHA:163690 · Frequent (79-30%)
Hypotonia-speech impairment-severe cognitive delay syndromeORPHA:371364 · Frequent (79-30%)
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeORPHA:529965 · Frequent (79-30%)
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeORPHA:397709 · Frequent (79-30%)
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndromeORPHA:314575 · Frequent (79-30%)
Isolated Dandy-Walker malformationORPHA:217 · Frequent (79-30%)
Jackson-Weiss syndromeORPHA:1540 · Frequent (79-30%)
Jacobsen syndromeORPHA:2308 · Frequent (79-30%)
Joubert syndrome with Jeune asphyxiating thoracic dystrophyORPHA:397715 · Frequent (79-30%)
Kagami-Ogata syndromeORPHA:254519 · Frequent (79-30%)
Macrocephaly-developmental delay syndromeORPHA:397612 · Frequent (79-30%)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeORPHA:457485 · Frequent (79-30%)
Megalencephaly-capillary malformation-polymicrogyria syndromeORPHA:60040 · Frequent (79-30%)
Melnick-Needles syndromeORPHA:2484 · Frequent (79-30%)
Microgastria-limb reduction defect syndromeORPHA:2538 · Frequent (79-30%)
MOMO syndromeORPHA:2563 · Frequent (79-30%)
Mosaic trisomy 8 syndromeORPHA:96061 · Frequent (79-30%)
Non-syndromic unicoronal craniosynostosisORPHA:620102 · Frequent (79-30%)
Oculocerebrorenal syndrome of LoweORPHA:534 · Frequent (79-30%)
Orofaciodigital syndrome type 5ORPHA:2919 · Frequent (79-30%)
Orofaciodigital syndrome type 6ORPHA:2754 · Frequent (79-30%)
Osteopathia striata-cranial sclerosis syndromeORPHA:2780 · Frequent (79-30%)
Osteopenia-intellectual disability-sparse hair syndromeORPHA:2324 · Frequent (79-30%)
Pallister-Killian syndromeORPHA:884 · Frequent (79-30%)
Pelviscapular dysplasiaORPHA:93333 · Frequent (79-30%)
Peters plus syndromeORPHA:709 · Frequent (79-30%)
Ramos-Arroyo syndromeORPHA:1051 · Frequent (79-30%)
Short rib-polydactyly syndrome, Verma-Naumoff typeORPHA:93271 · Frequent (79-30%)
Shprintzen-Goldberg syndromeORPHA:2462 · Frequent (79-30%)
Sialidosis type 1ORPHA:812 · Frequent (79-30%)
Silver-Russell syndrome due to 7p11.2p13 microduplicationORPHA:231137 · Frequent (79-30%)
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11ORPHA:231147 · Frequent (79-30%)
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeORPHA:508533 · Frequent (79-30%)
SomatomammotropinomaORPHA:314769 · Frequent (79-30%)
Spondylodysplastic Ehlers-Danlos syndromeORPHA:536471 · Frequent (79-30%)
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndromeORPHA:163649 · Frequent (79-30%)
Thanatophoric dysplasiaORPHA:2655 · Frequent (79-30%)
Thanatophoric dysplasia type 1ORPHA:1860 · Frequent (79-30%)
Thanatophoric dysplasia type 2ORPHA:93274 · Frequent (79-30%)
Treacher-Collins syndromeORPHA:861 · Frequent (79-30%)
Tricho-dento-osseous syndromeORPHA:3352 · Frequent (79-30%)
Trisomy 1q syndromeORPHA:261344 · Frequent (79-30%)
X-linked dominant chondrodysplasia punctataORPHA:35173 · Frequent (79-30%)
X-linked hypohidrotic ectodermal dysplasiaORPHA:181 · Frequent (79-30%)
X-linked intellectual disability, Stoll typeORPHA:85326 · Frequent (79-30%)
10q22.3q23.3 microdeletion syndromeORPHA:276413 · Occasional (29-5%)
12q14 microdeletion syndromeORPHA:94063 · Occasional (29-5%)
15q13.3 microdeletion syndromeORPHA:199318 · Occasional (29-5%)
1p36 deletion syndromeORPHA:1606 · Occasional (29-5%)
1q44 microdeletion syndromeORPHA:238769 · Occasional (29-5%)
ALG9-CDGORPHA:79328 · Occasional (29-5%)
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16ORPHA:98791 · Occasional (29-5%)
Autosomal recessive cutis laxa type 2AORPHA:357058 · Occasional (29-5%)
Bannayan-Riley-Ruvalcaba syndromeORPHA:109 · Occasional (29-5%)
Beta-thalassemia majorORPHA:231214 · Occasional (29-5%)
Brachydactyly type EORPHA:93387 · Occasional (29-5%)
Brachydactyly-short stature-retinitis pigmentosa syndromeORPHA:166035 · Occasional (29-5%)
Brittle cornea syndromeORPHA:90354 · Occasional (29-5%)
Camurati-Engelmann diseaseORPHA:1328 · Occasional (29-5%)
Combined immunodeficiency with facio-oculo-skeletal anomaliesORPHA:221139 · Occasional (29-5%)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyORPHA:95699 · Occasional (29-5%)
Congenital syphilisORPHA:499009 · Occasional (29-5%)
Deafness-epiphyseal dysplasia-short stature syndromeORPHA:3218 · Occasional (29-5%)
DesmosterolosisORPHA:35107 · Occasional (29-5%)
Distal 22q11.2 microduplication syndromeORPHA:261337 · Occasional (29-5%)
Distal deletion 12q syndromeORPHA:96149 · Occasional (29-5%)
DOORS syndromeORPHA:79500 · Occasional (29-5%)
Fanconi anemiaORPHA:84 · Occasional (29-5%)
GM1 gangliosidosisORPHA:354 · Occasional (29-5%)
GM1 gangliosidosis type 1ORPHA:79255 · Occasional (29-5%)
Gorlin syndromeORPHA:377 · Occasional (29-5%)
Heme oxygenase-1 deficiencyORPHA:562509 · Occasional (29-5%)
HoloprosencephalyORPHA:2162 · Occasional (29-5%)
Hypocalcemic vitamin D-resistant ricketsORPHA:93160 · Occasional (29-5%)
Ichthyosis follicularis-alopecia-photophobia syndromeORPHA:2273 · Occasional (29-5%)
Juvenile polyposis of infancyORPHA:79076 · Occasional (29-5%)
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14ORPHA:96334 · Occasional (29-5%)
Macrocephaly-intellectual disability-left ventricular non compaction syndromeORPHA:466791 · Occasional (29-5%)
Malan overgrowth syndromeORPHA:420179 · Occasional (29-5%)
MAN1B1-CDGORPHA:397941 · Occasional (29-5%)
Marshall syndromeORPHA:560 · Occasional (29-5%)
Mosaic trisomy 1 syndromeORPHA:1692 · Occasional (29-5%)
Mosaic variegated aneuploidy syndromeORPHA:1052 · Occasional (29-5%)
Mowat-Wilson syndrome due to a ZEB2 point mutationORPHA:261552 · Occasional (29-5%)
Non-syndromic sagittal craniosynostosisORPHA:35093 · Occasional (29-5%)
OdontochondrodysplasiaORPHA:166272 · Occasional (29-5%)
Ogden syndromeORPHA:276432 · Occasional (29-5%)
Osteoporosis-pseudoglioma syndromeORPHA:2788 · Occasional (29-5%)
PDE4D haploinsufficiency syndromeORPHA:439822 · Occasional (29-5%)
Proximal 16p11.2 microduplication syndromeORPHA:370079 · Occasional (29-5%)
Pseudoaminopterin syndromeORPHA:221120 · Occasional (29-5%)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationORPHA:438216 · Occasional (29-5%)
Pyruvate dehydrogenase deficiencyORPHA:765 · Occasional (29-5%)
RERE-related neurodevelopmental syndromeORPHA:494344 · Occasional (29-5%)
Ring chromosome 13 syndromeORPHA:96176 · Occasional (29-5%)
Ring chromosome 15 syndromeORPHA:96177 · Occasional (29-5%)
Robinow syndromeORPHA:97360 · Occasional (29-5%)
Sagliker syndromeORPHA:300493 · Occasional (29-5%)
SATB2-associated syndrome due to a chromosomal rearrangementORPHA:251028 · Occasional (29-5%)
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeORPHA:363686 · Occasional (29-5%)
Silver-Russell syndrome due to a point mutationORPHA:397590 · Occasional (29-5%)
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7ORPHA:96182 · Occasional (29-5%)
SPONASTRIME dysplasiaORPHA:93357 · Occasional (29-5%)
Spondylocarpotarsal synostosisORPHA:3275 · Occasional (29-5%)
Symptomatic form of Coffin-Lowry syndrome in female carriersORPHA:276630 · Occasional (29-5%)
Syndromic multisystem autoimmune disease due to Itch deficiencyORPHA:228426 · Occasional (29-5%)
Trichomegaly-retina pigmentary degeneration-dwarfism syndromeORPHA:3363 · Occasional (29-5%)
Trisomy 10p syndromeORPHA:171929 · Occasional (29-5%)
Trisomy 20p syndromeORPHA:261318 · Occasional (29-5%)
X-linked cerebral-cerebellar-coloboma syndromeORPHA:163961 · Occasional (29-5%)
X-linked hypophosphatemiaORPHA:89936 · Occasional (29-5%)
ZTTK syndromeORPHA:500150 · Occasional (29-5%)
Distal deletion 10q syndromeORPHA:96148 · Very rare (<4-1%)
Hereditary elliptocytosisORPHA:288 · Very rare (<4-1%)
Houge-Janssens syndrome type 1ORPHA:457279 · Very rare (<4-1%)
Macrocephaly-intellectual disability-autism syndromeORPHA:210548 · Very rare (<4-1%)
Temple syndromeORPHA:254516 · Very rare (<4-1%)
Unstable beta globin chain variant diseaseORPHA:231226 · Very rare (<4-1%)
Inverted duplicated chromosome 15 syndromeORPHA:3306 · Excluded (0%)