Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the dentition (HP:0000164)help
Parent Node:
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Abnormality of dental eruption (HP:0006292)help
..Starting node
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Delayed eruption of teeth (HP:0000684)help
Term ID: 684
Name: Delayed eruption of teeth
Synonym: Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption
Definition: Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Comments:
Reference: HP:0000684
Genes and Diseases:
 
       Child Nodes:
........expandDelayed eruption of primary teeth (HP:0000680) help
........expandDelayed eruption of permanent teeth (HP:0000696) help
................... HP:0006291 Marked delay in eruption of permanent teeth
................... HP:0006321 Multiple non-erupting secondary teeth
................... HP:0008498 No permanent dentition

 Sister Nodes: 
..expandAdvanced eruption of teeth (HP:0006288) help
..expandEruption failure (HP:0000706) help
..expandPersistence of primary teeth (HP:0006335) 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:0000684HP:0000684Delayed eruption of teeth0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040282 - Frequent1
HP:0000684HP:0000684Delayed eruption of teeth0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0000684HP:0000684Delayed eruption of teeth0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0000684HP:0000684Delayed eruption of teeth0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000684HP:0000684Delayed eruption of teeth0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040282 - Frequent34
HP:0000684HP:0000684Delayed eruption of teeth0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0000684HP:0000684Delayed eruption of teeth0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000684HP:0000684Delayed eruption of teeth0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000684HP:0000684Delayed eruption of teeth0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000684HP:0000684Delayed eruption of teeth0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000684HP:0000684Delayed eruption of teeth0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000684HP:0000684Delayed eruption of teeth0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000684HP:0000684Delayed eruption of teeth0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000684HP:0000684Delayed eruption of teeth0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000684HP:0000684Delayed eruption of teeth0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0000684HP:0000684Delayed eruption of teeth0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000684HP:0000684Delayed eruption of teeth0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000684HP:0000684Delayed eruption of teeth0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000684HP:0000684Delayed eruption of teeth0AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040282 - Frequent435
HP:0000684HP:0000684Delayed eruption of teeth0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0000684HP:0000684Delayed eruption of teeth0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000684HP:0000684Delayed eruption of teeth0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040281 - Very frequent101
HP:0000684HP:0000684Delayed eruption of teeth0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000684HP:0000684Delayed eruption of teeth0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000684HP:0000684Delayed eruption of teeth0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000684HP:0000684Delayed eruption of teeth0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0000684HP:0000684Delayed eruption of teeth0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0000684HP:0000684Delayed eruption of teeth0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000684HP:0000684Delayed eruption of teeth0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000684HP:0000684Delayed eruption of teeth0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000684HP:0000684Delayed eruption of teeth0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040282 - Frequent165
HP:0000684HP:0000684Delayed eruption of teeth0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0000684HP:0000684Delayed eruption of teeth0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0000684HP:0000684Delayed eruption of teeth0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040281 - Very frequent39
HP:0000684HP:0000684Delayed eruption of teeth0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS39
HP:0000684HP:0000684Delayed eruption of teeth0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0000684HP:0000684Delayed eruption of teeth0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0000684HP:0000684Delayed eruption of teeth0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000684HP:0000684Delayed eruption of teeth0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0000684HP:0000684Delayed eruption of teeth0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000684HP:0000684Delayed eruption of teeth0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0000684HP:0000684Delayed eruption of teeth0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0000684HP:0000684Delayed eruption of teeth0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000684HP:0000684Delayed eruption of teeth0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000684HP:0000684Delayed eruption of teeth0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000684HP:0000684Delayed eruption of teeth0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional7
HP:0000684HP:0000684Delayed eruption of teeth0EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040282 - Frequent115
HP:0000684HP:0000684Delayed eruption of teeth0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0000684HP:0000684Delayed eruption of teeth0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0000684HP:0000684Delayed eruption of teeth0EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040282 - Frequent56
HP:0000684HP:0000684Delayed eruption of teeth0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0000684HP:0000684Delayed eruption of teeth0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0000684HP:0000684Delayed eruption of teeth0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040282 - Frequent3
HP:0000684HP:0000684Delayed eruption of teeth0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent151
HP:0000684HP:0000684Delayed eruption of teeth0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000684HP:0000684Delayed eruption of teeth0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000684HP:0000684Delayed eruption of teeth0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000684HP:0000684Delayed eruption of teeth0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000684HP:0000684Delayed eruption of teeth0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000684HP:0000684Delayed eruption of teeth0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000684HP:0000684Delayed eruption of teeth0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000684HP:0000684Delayed eruption of teeth0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000684HP:0000684Delayed eruption of teeth0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000684HP:0000684Delayed eruption of teeth0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional209
HP:0000684HP:0000684Delayed eruption of teeth0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000684HP:0000684Delayed eruption of teeth0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional137
HP:0000684HP:0000684Delayed eruption of teeth0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000684HP:0000684Delayed eruption of teeth0FAM20A CL E G H5475723015ORPHA:1031Enamel-renal syndromeHP:0040281 - Very frequent16
HP:0000684HP:0000684Delayed eruption of teeth0FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome16
HP:0000684HP:0000684Delayed eruption of teeth0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0000684HP:0000684Delayed eruption of teeth0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000684HP:0000684Delayed eruption of teeth0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0000684HP:0000684Delayed eruption of teeth0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000684HP:0000684Delayed eruption of teeth0FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040282 - Frequent172
HP:0000684HP:0000684Delayed eruption of teeth0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000684HP:0000684Delayed eruption of teeth0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0000684HP:0000684Delayed eruption of teeth0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0000684HP:0000684Delayed eruption of teeth0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0000684HP:0000684Delayed eruption of teeth0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000684HP:0000684Delayed eruption of teeth0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000684HP:0000684Delayed eruption of teeth0FLNA CL E G H23163754ORPHA:2484Melnick-Needles syndromeHP:0040282 - Frequent493
HP:0000684HP:0000684Delayed eruption of teeth0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000684HP:0000684Delayed eruption of teeth0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040282 - Frequent52
HP:0000684HP:0000684Delayed eruption of teeth0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040281 - Very frequent98
HP:0000684HP:0000684Delayed eruption of teeth0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0000684HP:0000684Delayed eruption of teeth0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000684HP:0000684Delayed eruption of teeth0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional1
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000684HP:0000684Delayed eruption of teeth0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000684HP:0000684Delayed eruption of teeth0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000684HP:0000684Delayed eruption of teeth0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000684HP:0000684Delayed eruption of teeth0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000684HP:0000684Delayed eruption of teeth0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000684HP:0000684Delayed eruption of teeth0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0000684HP:0000684Delayed eruption of teeth0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000684HP:0000684Delayed eruption of teeth0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0000684HP:0000684Delayed eruption of teeth0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies.8
HP:0000684HP:0000684Delayed eruption of teeth0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000684HP:0000684Delayed eruption of teeth0IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040282 - Frequent99
HP:0000684HP:0000684Delayed eruption of teeth0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0000684HP:0000684Delayed eruption of teeth0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000684HP:0000684Delayed eruption of teeth0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000684HP:0000684Delayed eruption of teeth0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000684HP:0000684Delayed eruption of teeth0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000684HP:0000684Delayed eruption of teeth0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0000684HP:0000684Delayed eruption of teeth0LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000684HP:0000684Delayed eruption of teeth0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000684HP:0000684Delayed eruption of teeth0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0000684HP:0000684Delayed eruption of teeth0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0000684HP:0000684Delayed eruption of teeth0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000684HP:0000684Delayed eruption of teeth0LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040282 - Frequent26
HP:0000684HP:0000684Delayed eruption of teeth0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000684HP:0000684Delayed eruption of teeth0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000684HP:0000684Delayed eruption of teeth0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040281 - Very frequent12
HP:0000684HP:0000684Delayed eruption of teeth0MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040282 - Frequent12
HP:0000684HP:0000684Delayed eruption of teeth0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0000684HP:0000684Delayed eruption of teeth0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0000684HP:0000684Delayed eruption of teeth0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000684HP:0000684Delayed eruption of teeth0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000684HP:0000684Delayed eruption of teeth0NPHS1 CL E G H48687908ORPHA:839Congenital nephrotic syndrome, Finnish type241
HP:0000684HP:0000684Delayed eruption of teeth0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0000684HP:0000684Delayed eruption of teeth0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0000684HP:0000684Delayed eruption of teeth0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2.143
HP:0000684HP:0000684Delayed eruption of teeth0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0000684HP:0000684Delayed eruption of teeth0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000684HP:0000684Delayed eruption of teeth0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0000684HP:0000684Delayed eruption of teeth0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0000684HP:0000684Delayed eruption of teeth0PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040282 - Frequent58
HP:0000684HP:0000684Delayed eruption of teeth0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0000684HP:0000684Delayed eruption of teeth0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000684HP:0000684Delayed eruption of teeth0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000684HP:0000684Delayed eruption of teeth0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000684HP:0000684Delayed eruption of teeth0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000684HP:0000684Delayed eruption of teeth0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000684HP:0000684Delayed eruption of teeth0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000684HP:0000684Delayed eruption of teeth0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0000684HP:0000684Delayed eruption of teeth0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000684HP:0000684Delayed eruption of teeth0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000684HP:0000684Delayed eruption of teeth0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040283 - Occasional2
HP:0000684HP:0000684Delayed eruption of teeth0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0000684HP:0000684Delayed eruption of teeth0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000684HP:0000684Delayed eruption of teeth0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040282 - Frequent665
HP:0000684HP:0000684Delayed eruption of teeth0PTHLH CL E G H57449607OMIM:613382Brachydactyly, type E2HP:0040283 - Occasional6
HP:0000684HP:0000684Delayed eruption of teeth0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000684HP:0000684Delayed eruption of teeth0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000684HP:0000684Delayed eruption of teeth0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000684HP:0000684Delayed eruption of teeth0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000684HP:0000684Delayed eruption of teeth0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000684HP:0000684Delayed eruption of teeth0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1120
HP:0000684HP:0000684Delayed eruption of teeth0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0000684HP:0000684Delayed eruption of teeth0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0000684HP:0000684Delayed eruption of teeth0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000684HP:0000684Delayed eruption of teeth0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000684HP:0000684Delayed eruption of teeth0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000684HP:0000684Delayed eruption of teeth0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0000684HP:0000684Delayed eruption of teeth0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000684HP:0000684Delayed eruption of teeth0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000684HP:0000684Delayed eruption of teeth0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0000684HP:0000684Delayed eruption of teeth0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000684HP:0000684Delayed eruption of teeth0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0000684HP:0000684Delayed eruption of teeth0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0000684HP:0000684Delayed eruption of teeth0SFRP4 CL E G H642410778OMIM:265900Pyle diseaseHP:0040283 - Occasional3
HP:0000684HP:0000684Delayed eruption of teeth0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040282 - Frequent134
HP:0000684HP:0000684Delayed eruption of teeth0SLC13A5 CL E G H28411123089OMIM:615905Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta.73
HP:0000684HP:0000684Delayed eruption of teeth0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0000684HP:0000684Delayed eruption of teeth0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0000684HP:0000684Delayed eruption of teeth0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib110
HP:0000684HP:0000684Delayed eruption of teeth0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0000684HP:0000684Delayed eruption of teeth0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000684HP:0000684Delayed eruption of teeth0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000684HP:0000684Delayed eruption of teeth0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000684HP:0000684Delayed eruption of teeth0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000684HP:0000684Delayed eruption of teeth0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000684HP:0000684Delayed eruption of teeth0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000684HP:0000684Delayed eruption of teeth0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000684HP:0000684Delayed eruption of teeth0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000684HP:0000684Delayed eruption of teeth0SNX10 CL E G H2988714974ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent2
HP:0000684HP:0000684Delayed eruption of teeth0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000684HP:0000684Delayed eruption of teeth0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000684HP:0000684Delayed eruption of teeth0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0000684HP:0000684Delayed eruption of teeth0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000684HP:0000684Delayed eruption of teeth0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000684HP:0000684Delayed eruption of teeth0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0000684HP:0000684Delayed eruption of teeth0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0000684HP:0000684Delayed eruption of teeth0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0000684HP:0000684Delayed eruption of teeth0SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040282 - Frequent8
HP:0000684HP:0000684Delayed eruption of teeth0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0000684HP:0000684Delayed eruption of teeth0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000684HP:0000684Delayed eruption of teeth0TCIRG1 CL E G H1031211647ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent82
HP:0000684HP:0000684Delayed eruption of teeth0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0000684HP:0000684Delayed eruption of teeth0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0000684HP:0000684Delayed eruption of teeth0TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040282 - Frequent
HP:0000684HP:0000684Delayed eruption of teeth0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000684HP:0000684Delayed eruption of teeth0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0000684HP:0000684Delayed eruption of teeth0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0000684HP:0000684Delayed eruption of teeth0TNFSF11 CL E G H860011926ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent44
HP:0000684HP:0000684Delayed eruption of teeth0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0000684HP:0000684Delayed eruption of teeth0TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040282 - Frequent133
HP:0000684HP:0000684Delayed eruption of teeth0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000684HP:0000684Delayed eruption of teeth0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000684HP:0000684Delayed eruption of teeth0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndromeHP:0040283 - Occasional7
HP:0000684HP:0000684Delayed eruption of teeth0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000684HP:0000684Delayed eruption of teeth0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040282 - Frequent25
HP:0000684HP:0000684Delayed eruption of teeth0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0000684HP:0000684Delayed eruption of teeth0WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040282 - Frequent71
HP:0000684HP:0000684Delayed eruption of teeth0WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040282 - Frequent4
HP:0000684HP:0000684Delayed eruption of teeth0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000684HP:0000684Delayed eruption of teeth0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000684HP:0000684Delayed eruption of teeth0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000684HP:0000684Delayed eruption of teeth0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000684HP:0000684Delayed eruption of teeth0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0000684HP:0000696Delayed eruption of permanent teeth1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000684HP:0000696Delayed eruption of permanent teeth1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000684HP:0000696Delayed eruption of permanent teeth1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000684HP:0000696Delayed eruption of permanent teeth1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040282 - Frequent435
HP:0000684HP:0000680Delayed eruption of primary teeth1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000684HP:0000680Delayed eruption of primary teeth1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000684HP:0000696Delayed eruption of permanent teeth1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0000684HP:0000696Delayed eruption of permanent teeth1CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000684HP:0000680Delayed eruption of primary teeth1CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0000684HP:0000680Delayed eruption of primary teeth1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000684HP:0000696Delayed eruption of permanent teeth1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040282 - Frequent115
HP:0000684HP:0000696Delayed eruption of permanent teeth1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040282 - Frequent56
HP:0000684HP:0000680Delayed eruption of primary teeth1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000684HP:0000680Delayed eruption of primary teeth1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000684HP:0000696Delayed eruption of permanent teeth1FAM20A CL E G H5475723015OMIM:204690Enamel-Renal syndrome.16
HP:0000684HP:0000680Delayed eruption of primary teeth1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0000684HP:0000696Delayed eruption of permanent teeth1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040282 - Frequent172
HP:0000684HP:0000680Delayed eruption of primary teeth1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0000684HP:0000680Delayed eruption of primary teeth1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0000684HP:0000680Delayed eruption of primary teeth1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000684HP:0000696Delayed eruption of permanent teeth1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000684HP:0000680Delayed eruption of primary teeth1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000684HP:0000696Delayed eruption of permanent teeth1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040282 - Frequent99
HP:0000684HP:0000696Delayed eruption of permanent teeth1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000684HP:0000680Delayed eruption of primary teeth1LEMD2 CL E G H22149621244OMIM:619322MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS1
HP:0000684HP:0000696Delayed eruption of permanent teeth1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040282 - Frequent26
HP:0000684HP:0000696Delayed eruption of permanent teeth1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000684HP:0000696Delayed eruption of permanent teeth1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040282 - Frequent12
HP:0000684HP:0000696Delayed eruption of permanent teeth1NPHS1 CL E G H48687908ORPHA:839Congenital nephrotic syndrome, Finnish typeHP:0040281 - Very frequent241
HP:0000684HP:0000696Delayed eruption of permanent teeth1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000684HP:0000696Delayed eruption of permanent teeth1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040282 - Frequent58
HP:0000684HP:0000696Delayed eruption of permanent teeth1PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000684HP:0000680Delayed eruption of primary teeth1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000684HP:0000696Delayed eruption of permanent teeth1ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0000684HP:0000696Delayed eruption of permanent teeth1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000684HP:0000680Delayed eruption of primary teeth1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000684HP:0000696Delayed eruption of permanent teeth1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000684HP:0000696Delayed eruption of permanent teeth1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000684HP:0000696Delayed eruption of permanent teeth1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0000684HP:0000696Delayed eruption of permanent teeth1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000684HP:0000696Delayed eruption of permanent teeth1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040282 - Frequent8
HP:0000684HP:0000696Delayed eruption of permanent teeth1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000684HP:0000696Delayed eruption of permanent teeth1TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0000684HP:0000696Delayed eruption of permanent teeth1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040282 - Frequent
HP:0000684HP:0000696Delayed eruption of permanent teeth1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0000684HP:0000696Delayed eruption of permanent teeth1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040282 - Frequent71
HP:0000684HP:0000696Delayed eruption of permanent teeth1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040282 - Frequent4
HP:0000684HP:0006321Multiple non-erupting secondary teeth2 CL E G H
HP:0000684HP:0006291Marked delay in eruption of permanent teeth2 CL E G H
HP:0000684HP:0008498No permanent dentition2APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000684HP:0008498No permanent dentition2NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000684HP:0008498No permanent dentition2SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000684HP:0008498No permanent dentition2TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104


Genes (166) :ABCA5 ACP5 ADAMTS3 ADAMTSL1 AMER1 AMMECR1 ANAPC1 ANTXR1 APC2 ARID1A ARID1B ARID2 ARSB ATP6V0A2 ATP6V1B2 AXIN2 BCOR BRD4 CAMK2B CCBE1 CCDC8 CDH11 CHD7 CHST3 CLCN7 CTSK CUL7 CYP27B1 CYP2R1 DEAF1 DMP1 DNAJC21 DPF2 DPYD DVL1 DYNC2LI1 EDA EDA2R EDARADD EDNRA EFL1 ELMO2 ENPP1 ERCC1 ERCC4 ERCC6 ERCC8 EVC EVC2 FAM20A FAT4 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FLII FLNA GDF5 GHR GJA1 GLI1 GNAS GNB2 HDAC4 HDAC8 IDS IGF1 IKBKG IL11RA IQSEC2 IRF6 KAT6B KCNH1 KCNJ2 KCTD1 LEMD2 LIG4 LMNA LONP1 LRP6 MIA3 MMP2 MSX1 MYSM1 NAA10 NIPBL NPHS1 NSD1 NSUN2 OBSL1 OCRL P4HB PAPPA2 PAX9 PDE4D PDGFRB PIGA PIGF PIK3R1 POLR3A POLR3B PORCN PRKACA PRKACB PRKAR1A PTCH1 PTHLH RAD21 RAI1 RECQL4 RIC1 ROR2 RPS6KA3 RUNX2 SATB1 SBDS SEC23A SEC24D SEMA3E SETBP1 SETD2 SFRP4 SH3PXD2B SLC13A5 SLC1A2 SLC29A3 SLC37A4 SLC39A13 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SNX10 SNX14 SOX11 SOX4 SP7 SRP54 STAT3 STX16 SUMO1 SUOX TBC1D24 TCIRG1 TFAP2B TGFA TGFB1 THRA TNFRSF11A TNFSF11 TONSL TRIP11 TRPS1 TWIST2 UBR1 VDR WNT10A WNT10B WNT5A ZEB2 ZMPSTE24

Diseases (148) :ORPHA:2026 ORPHA:1855 ORPHA:2136 ORPHA:521445 ORPHA:2780 OMIM:300990 ORPHA:221008 ORPHA:2067 ORPHA:821 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:253200 ORPHA:2834 OMIM:278250 ORPHA:79500 ORPHA:99798 ORPHA:568 OMIM:300166 ORPHA:2712 ORPHA:199 OMIM:617799 OMIM:235510 ORPHA:2616 OMIM:211380 OMIM:619736 ORPHA:138 ORPHA:263463 OMIM:143095 ORPHA:667 ORPHA:763 OMIM:265800 ORPHA:289157 OMIM:264700 ORPHA:819 ORPHA:289176 ORPHA:811 ORPHA:1675 OMIM:180700 ORPHA:289 ORPHA:181 OMIM:616367 ORPHA:3019 ORPHA:90322 ORPHA:90321 OMIM:214150 OMIM:133540 OMIM:216400 OMIM:225500 ORPHA:1031 OMIM:204690 ORPHA:915 OMIM:149730 ORPHA:2791 OMIM:101200 ORPHA:87 OMIM:305620 ORPHA:2484 OMIM:309350 ORPHA:63442 ORPHA:633 OMIM:218400 OMIM:257850 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:619797 OMIM:309900 ORPHA:73272 OMIM:308300 ORPHA:464 OMIM:614188 ORPHA:85201 OMIM:606170 ORPHA:420561 OMIM:135500 OMIM:170390 ORPHA:2036 OMIM:619322 ORPHA:235 ORPHA:740 ORPHA:1458 OMIM:600373 OMIM:619269 OMIM:259600 ORPHA:2228 ORPHA:508542 OMIM:122470 ORPHA:839 OMIM:612921 ORPHA:534 ORPHA:2050 OMIM:619489 ORPHA:950 OMIM:601812 OMIM:301072 OMIM:619356 OMIM:269880 ORPHA:447896 OMIM:264090 OMIM:614381 OMIM:305600 OMIM:101800 ORPHA:77301 OMIM:613382 ORPHA:221016 OMIM:268400 OMIM:618761 OMIM:113000 OMIM:268310 ORPHA:192 OMIM:119600 ORPHA:1452 OMIM:619229 OMIM:607812 ORPHA:50814 ORPHA:798 OMIM:265900 ORPHA:137834 OMIM:615905 OMIM:617105 ORPHA:1782 ORPHA:79259 OMIM:612350 OMIM:614608 OMIM:616354 OMIM:615866 OMIM:613849 ORPHA:2314 OMIM:272300 ORPHA:46627 ORPHA:1328 OMIM:614450 ORPHA:93357 ORPHA:166272 OMIM:184260 OMIM:190350 OMIM:209885 ORPHA:1231 ORPHA:2315 OMIM:277440 OMIM:235730 ORPHA:261552 ORPHA:261537
 

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