Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral morphology (HP:0031816)help
Parent Node:
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Abnormal oral cavity morphology (HP:0000163)help
..Starting node
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Abnormal oral frenulum morphology (HP:0000190)help
Term ID: 190
Name: Abnormal oral frenulum morphology
Synonym: Abnormality of frenum of tongue; Abnormality of lingual frenum; Abnormality of oral frenula; Abnormality of oral frenum
Definition: An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.
Comments:
Reference: HP:0000190
Genes and Diseases:
 
       Child Nodes:
........expandAccessory oral frenulum (HP:0000191) help
........expandShort lingual frenulum (HP:0000200) help
........expandAnkyloglossia (HP:0010296) help

 Sister Nodes: 
..expandAbnormal lip morphology (HP:0000159) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormal mouth floor morphology (HP:0410012) help
..expandAbnormal oral mucosa morphology (HP:0011830) help
..expandAbnormal palate morphology (HP:0000174) help
..expandAbnormal salivary gland morphology (HP:0010286) help
..expandAbnormality of mouth shape (HP:0011338) help
..expandAbnormality of mouth size (HP:0011337) help
..expandAbnormality of the alveolar ridges (HP:0006477) help
..expandAbnormality of the dentition (HP:0000164) help
..expandAbnormality of the tongue (HP:0000157) help
..expandNeoplasm of the oral cavity (HP:0100649) 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:0000190HP:0000190Abnormal oral frenulum morphology0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000190HP:0000190Abnormal oral frenulum morphology0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000190HP:0000190Abnormal oral frenulum morphology0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000190HP:0000190Abnormal oral frenulum morphology0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000190HP:0000190Abnormal oral frenulum morphology0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000190HP:0000190Abnormal oral frenulum morphology0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0000190HP:0000190Abnormal oral frenulum morphology0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0000190HP:0000190Abnormal oral frenulum morphology0CDC42BPB CL E G H95781738OMIM:619841
HP:0000190HP:0000190Abnormal oral frenulum morphology0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000190HP:0000190Abnormal oral frenulum morphology0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000190HP:0000190Abnormal oral frenulum morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000190HP:0000190Abnormal oral frenulum morphology0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0000190HP:0000190Abnormal oral frenulum morphology0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0000190HP:0000190Abnormal oral frenulum morphology0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000190HP:0000190Abnormal oral frenulum morphology0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0000190HP:0000190Abnormal oral frenulum morphology0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000190HP:0000190Abnormal oral frenulum morphology0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000190HP:0000190Abnormal oral frenulum morphology0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000190HP:0000190Abnormal oral frenulum morphology0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000190HP:0000190Abnormal oral frenulum morphology0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000190HP:0000190Abnormal oral frenulum morphology0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0000190HP:0000190Abnormal oral frenulum morphology0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0000190HP:0000190Abnormal oral frenulum morphology0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0000190HP:0000190Abnormal oral frenulum morphology0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000190HP:0000190Abnormal oral frenulum morphology0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0000190HP:0000190Abnormal oral frenulum morphology0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000190HP:0000190Abnormal oral frenulum morphology0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0000190HP:0000190Abnormal oral frenulum morphology0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000190HP:0000190Abnormal oral frenulum morphology0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000190HP:0000190Abnormal oral frenulum morphology0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000190HP:0000190Abnormal oral frenulum morphology0FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000190HP:0000190Abnormal oral frenulum morphology0FREM1 CL E G H15832623399ORPHA:217266BNAR syndrome198
HP:0000190HP:0000190Abnormal oral frenulum morphology0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000190HP:0000190Abnormal oral frenulum morphology0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000190HP:0000190Abnormal oral frenulum morphology0H4C5 CL E G H83674790OMIM:619950
HP:0000190HP:0000190Abnormal oral frenulum morphology0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000190HP:0000190Abnormal oral frenulum morphology0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII
HP:0000190HP:0000190Abnormal oral frenulum morphology0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000190HP:0000190Abnormal oral frenulum morphology0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000190HP:0000190Abnormal oral frenulum morphology0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000190HP:0000190Abnormal oral frenulum morphology0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000190HP:0000190Abnormal oral frenulum morphology0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000190HP:0000190Abnormal oral frenulum morphology0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000190HP:0000190Abnormal oral frenulum morphology0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0000190HP:0000190Abnormal oral frenulum morphology0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0000190HP:0000190Abnormal oral frenulum morphology0NEK1 CL E G H47507744ORPHA:2751Orofaciodigital syndrome type 2HP:0040282 - Frequent101
HP:0000190HP:0000190Abnormal oral frenulum morphology0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0000190HP:0000190Abnormal oral frenulum morphology0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000190HP:0000190Abnormal oral frenulum morphology0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0000190HP:0000190Abnormal oral frenulum morphology0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000190HP:0000190Abnormal oral frenulum morphology0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000190HP:0000190Abnormal oral frenulum morphology0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000190HP:0000190Abnormal oral frenulum morphology0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000190HP:0000190Abnormal oral frenulum morphology0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000190HP:0000190Abnormal oral frenulum morphology0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000190HP:0000190Abnormal oral frenulum morphology0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000190HP:0000190Abnormal oral frenulum morphology0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000190HP:0000190Abnormal oral frenulum morphology0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0000190HP:0000190Abnormal oral frenulum morphology0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0000190HP:0000190Abnormal oral frenulum morphology0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0000190HP:0000190Abnormal oral frenulum morphology0SCNM1 CL E G H7900523136OMIM:620107
HP:0000190HP:0000190Abnormal oral frenulum morphology0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000190HP:0000190Abnormal oral frenulum morphology0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000190HP:0000190Abnormal oral frenulum morphology0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000190HP:0000190Abnormal oral frenulum morphology0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000190HP:0000190Abnormal oral frenulum morphology0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000190HP:0000190Abnormal oral frenulum morphology0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000190HP:0000190Abnormal oral frenulum morphology0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0000190HP:0000190Abnormal oral frenulum morphology0TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked28
HP:0000190HP:0000190Abnormal oral frenulum morphology0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV31
HP:0000190HP:0000190Abnormal oral frenulum morphology0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0000190HP:0000190Abnormal oral frenulum morphology0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000190HP:0000190Abnormal oral frenulum morphology0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder12
HP:0000190HP:0000190Abnormal oral frenulum morphology0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000190HP:0000190Abnormal oral frenulum morphology0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000190HP:0000190Abnormal oral frenulum morphology0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000190HP:0000190Abnormal oral frenulum morphology0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000190HP:0000190Abnormal oral frenulum morphology0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0000190HP:0034416Torn oral frenulum1 CL E G H
HP:0000190HP:0034414Thick oral frenulum1 CL E G H
HP:0000190HP:0010296Ankyloglossia1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000190HP:0000200Short lingual frenulum1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000190HP:0000200Short lingual frenulum1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000190HP:0010296Ankyloglossia1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000190HP:0000191Accessory oral frenulum1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000190HP:0000191Accessory oral frenulum1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040282 - Frequent83
HP:0000190HP:0000191Accessory oral frenulum1CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000190HP:0010296Ankyloglossia1CDC42BPB CL E G H95781738OMIM:619841
HP:0000190HP:0000200Short lingual frenulum1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000190HP:0000191Accessory oral frenulum1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0000190HP:0010296Ankyloglossia1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0000190HP:0010296Ankyloglossia1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0000190HP:0000191Accessory oral frenulum1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000190HP:0010296Ankyloglossia1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000190HP:0000191Accessory oral frenulum1DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040282 - Frequent2
HP:0000190HP:0010296Ankyloglossia1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000190HP:0000200Short lingual frenulum1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0000190HP:0000191Accessory oral frenulum1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0000190HP:0000191Accessory oral frenulum1EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040282 - Frequent48
HP:0000190HP:0010296Ankyloglossia1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0000190HP:0000191Accessory oral frenulum1FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000190HP:0000200Short lingual frenulum1FREM1 CL E G H15832623399OMIM:608980Bifid nose with or without anorectal and renal anomalies198
HP:0000190HP:0000200Short lingual frenulum1FREM1 CL E G H15832623399ORPHA:217266BNAR syndromeHP:0040281 - Very frequent198
HP:0000190HP:0000191Accessory oral frenulum1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000190HP:0010296Ankyloglossia1H4C5 CL E G H83674790OMIM:619950
HP:0000190HP:0000191Accessory oral frenulum1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0000190HP:0000191Accessory oral frenulum1IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0000190HP:0000200Short lingual frenulum1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000190HP:0000200Short lingual frenulum1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000190HP:0010296Ankyloglossia1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000190HP:0010296Ankyloglossia1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000190HP:0010296Ankyloglossia1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040284 - Very rare57
HP:0000190HP:0010296Ankyloglossia1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0000190HP:0010296Ankyloglossia1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000190HP:0010296Ankyloglossia1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0000190HP:0000191Accessory oral frenulum1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0000190HP:0010296Ankyloglossia1POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000190HP:0000191Accessory oral frenulum1PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000190HP:0000191Accessory oral frenulum1PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000190HP:0010296Ankyloglossia1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000190HP:0010296Ankyloglossia1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000190HP:0010296Ankyloglossia1RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2.
HP:0000190HP:0000191Accessory oral frenulum1SCNM1 CL E G H7900523136OMIM:620107
HP:0000190HP:0010296Ankyloglossia1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000190HP:0010296Ankyloglossia1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000190HP:0000200Short lingual frenulum1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000190HP:0010296Ankyloglossia1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000190HP:0000200Short lingual frenulum1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000190HP:0010296Ankyloglossia1TBX22 CL E G H5094511600OMIM:303400Cleft palate, X-linked.28
HP:0000190HP:0000191Accessory oral frenulum1TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0000190HP:0010296Ankyloglossia1TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0000190HP:0000200Short lingual frenulum1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000190HP:0000200Short lingual frenulum1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0000190HP:0010296Ankyloglossia1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83
HP:0000190HP:0000200Short lingual frenulum1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (61) :AFF3 ATP6V1B2 B3GLCT BCR C2CD3 CD96 CDC42BPB CDK13 CHUK COL3A1 COL7A1 CPLANE1 CRKL DDX59 DVL1 DYNC2LI1 EFTUD2 EVC EVC2 FAM111A FAM149B1 FLNA FREM1 GLI1 GLI3 H4C5 IFT140 IFT57 KIAA0753 KIF7 LMNA MAPK1 MID1 MMP1 NEK1 NXN OFD1 PDE6D POU4F1 PRKACA PRKACB PRR12 RIPK4 ROR2 RSPO2 SCNM1 SETBP1 SETD5 SLC37A4 SMARCA2 SPTBN1 TBC1D24 TBR1 TBX22 TCTN3 TELO2 TMEM216 TOPORS WDR35 WNT5A ZMPSTE24

Diseases (57) :OMIM:619297 ORPHA:79500 OMIM:261540 ORPHA:261330 ORPHA:434179 OMIM:211750 ORPHA:1308 OMIM:619841 OMIM:617360 OMIM:619339 ORPHA:286 ORPHA:89842 ORPHA:79408 ORPHA:2754 OMIM:277170 ORPHA:2919 OMIM:174300 OMIM:180700 ORPHA:289 OMIM:617088 ORPHA:79113 ORPHA:952 OMIM:602361 OMIM:300244 ORPHA:88630 OMIM:608980 ORPHA:217266 ORPHA:672 OMIM:619950 OMIM:266920 OMIM:617927 OMIM:619479 OMIM:200990 ORPHA:740 ORPHA:2745 ORPHA:2751 ORPHA:1507 OMIM:311200 ORPHA:2750 OMIM:619352 OMIM:619142 OMIM:619143 OMIM:619539 ORPHA:1401 OMIM:618021 OMIM:620107 OMIM:616078 ORPHA:404440 OMIM:619525 OMIM:601358 OMIM:619475 ORPHA:1617 OMIM:303400 OMIM:258860 ORPHA:2753 ORPHA:488642 OMIM:614091
 

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