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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Abnormality of the alveolar ridges (HP:0006477)help
Term ID: 6477
Name: Abnormality of the alveolar ridges
Synonym: Abnormality of alveolar margin; Abnormality of alveolar processes of jaw; Abnormality of dentoalveolar ridges; Abnormality of gum ridge; Defect in alveolar ridge
Definition: Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.
Comments:
Reference: HP:0006477
Genes and Diseases:
 
       Child Nodes:
........expandBroad alveolar ridges (HP:0000187) help
................... HP:0000216 Broad secondary alveolar ridge
........expandAtrophy of alveolar ridges (HP:0006308) help
........expandAlveolar process hypoplasia (HP:0006329) help
........expandMidline notch of upper alveolar ridge (HP:0009084) help
........expandAlveolar ridge overgrowth (HP:0009085) help
................... HP:0009100 Thick anterior alveolar ridges
........expandProgressive alveolar ridge hypertropy (HP:0009092) help
........expandFibrous syngnathia (HP:0009754) 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 frenulum morphology (HP:0000190) 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 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:0006477HP:0006477Abnormality of the alveolar ridges0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0006477HP:0006477Abnormality of the alveolar ridges0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0006477HP:0006477Abnormality of the alveolar ridges0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0006477HP:0006477Abnormality of the alveolar ridges0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0006477HP:0006477Abnormality of the alveolar ridges0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0006477HP:0006477Abnormality of the alveolar ridges0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0006477HP:0006477Abnormality of the alveolar ridges0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0006477HP:0006477Abnormality of the alveolar ridges0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0006477HP:0006477Abnormality of the alveolar ridges0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0006477HP:0006477Abnormality of the alveolar ridges0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0006477HP:0006477Abnormality of the alveolar ridges0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0006477HP:0006477Abnormality of the alveolar ridges0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006477HP:0006477Abnormality of the alveolar ridges0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndrome164
HP:0006477HP:0006477Abnormality of the alveolar ridges0DPH5 CL E G H5161124270OMIM:620070
HP:0006477HP:0006477Abnormality of the alveolar ridges0ELANE CL E G H19913309ORPHA:2686Cyclic neutropenia79
HP:0006477HP:0006477Abnormality of the alveolar ridges0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0006477HP:0006477Abnormality of the alveolar ridges0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0006477HP:0006477Abnormality of the alveolar ridges0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0006477HP:0006477Abnormality of the alveolar ridges0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006477HP:0006477Abnormality of the alveolar ridges0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0006477HP:0006477Abnormality of the alveolar ridges0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0006477HP:0006477Abnormality of the alveolar ridges0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0006477HP:0006477Abnormality of the alveolar ridges0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0006477HP:0006477Abnormality of the alveolar ridges0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0006477HP:0006477Abnormality of the alveolar ridges0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0006477HP:0006477Abnormality of the alveolar ridges0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0006477HP:0006477Abnormality of the alveolar ridges0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndrome99
HP:0006477HP:0006477Abnormality of the alveolar ridges0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome99
HP:0006477HP:0006477Abnormality of the alveolar ridges0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0006477HP:0006477Abnormality of the alveolar ridges0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0006477HP:0006477Abnormality of the alveolar ridges0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0006477HP:0006477Abnormality of the alveolar ridges0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0006477HP:0006477Abnormality of the alveolar ridges0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0006477HP:0006477Abnormality of the alveolar ridges0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0006477HP:0006477Abnormality of the alveolar ridges0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1201
HP:0006477HP:0006477Abnormality of the alveolar ridges0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0006477HP:0006477Abnormality of the alveolar ridges0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0006477HP:0006477Abnormality of the alveolar ridges0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0006477HP:0006477Abnormality of the alveolar ridges0RBM10 CL E G H82419896ORPHA:2886TARP syndrome16
HP:0006477HP:0006477Abnormality of the alveolar ridges0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0006477HP:0006477Abnormality of the alveolar ridges0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0006477HP:0006477Abnormality of the alveolar ridges0SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0006477HP:0006477Abnormality of the alveolar ridges0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0006477HP:0006477Abnormality of the alveolar ridges0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0006477HP:0006477Abnormality of the alveolar ridges0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0006477HP:0006477Abnormality of the alveolar ridges0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0006477HP:0006477Abnormality of the alveolar ridges0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0006477HP:0006477Abnormality of the alveolar ridges0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0006477HP:0006477Abnormality of the alveolar ridges0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0006477HP:0006477Abnormality of the alveolar ridges0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0006477HP:0006477Abnormality of the alveolar ridges0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0006477HP:0006477Abnormality of the alveolar ridges0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0006477HP:0000187Broad alveolar ridges1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0006477HP:0000187Broad alveolar ridges1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0006477HP:0000187Broad alveolar ridges1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0006477HP:0009085Alveolar ridge overgrowth1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0006477HP:0006308Atrophy of alveolar ridges1C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040282 - Frequent15
HP:0006477HP:0006308Atrophy of alveolar ridges1C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndromeHP:0040282 - Frequent7
HP:0006477HP:0009085Alveolar ridge overgrowth1CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0006477HP:0009084Midline notch of upper alveolar ridge1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0006477HP:0006308Atrophy of alveolar ridges1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0006477HP:0006308Atrophy of alveolar ridges1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0006477HP:0009085Alveolar ridge overgrowth1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0006477HP:0000187Broad alveolar ridges1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0006477HP:0000187Broad alveolar ridges1DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0006477HP:0009085Alveolar ridge overgrowth1DPH5 CL E G H5161124270OMIM:620070
HP:0006477HP:0006308Atrophy of alveolar ridges1ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0006477HP:0009084Midline notch of upper alveolar ridge1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0006477HP:0000187Broad alveolar ridges1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006477HP:0000187Broad alveolar ridges1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0006477HP:0009085Alveolar ridge overgrowth1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0006477HP:0000187Broad alveolar ridges1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0006477HP:0000187Broad alveolar ridges1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0006477HP:0000187Broad alveolar ridges1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0006477HP:0009092Progressive alveolar ridge hypertropy1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0006477HP:0000187Broad alveolar ridges1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0006477HP:0009754Fibrous syngnathia1IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0006477HP:0009754Fibrous syngnathia1IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0006477HP:0009084Midline notch of upper alveolar ridge1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0006477HP:0006329Alveolar process hypoplasia1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0006477HP:0009084Midline notch of upper alveolar ridge1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0006477HP:0006308Atrophy of alveolar ridges1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0006477HP:0009085Alveolar ridge overgrowth1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0006477HP:0009085Alveolar ridge overgrowth1OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0006477HP:0000187Broad alveolar ridges1OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040281 - Very frequent201
HP:0006477HP:0009084Midline notch of upper alveolar ridge1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0006477HP:0009084Midline notch of upper alveolar ridge1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0006477HP:0009085Alveolar ridge overgrowth1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0006477HP:0009085Alveolar ridge overgrowth1RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040284 - Very rare16
HP:0006477HP:0000187Broad alveolar ridges1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0006477HP:0000187Broad alveolar ridges1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0006477HP:0009085Alveolar ridge overgrowth1SH3BP2 CL E G H645210825OMIM:118400Cherubism177
HP:0006477HP:0000187Broad alveolar ridges1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0006477HP:0009085Alveolar ridge overgrowth1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0006477HP:0000187Broad alveolar ridges1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0006477HP:0009085Alveolar ridge overgrowth1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0006477HP:0009084Midline notch of upper alveolar ridge1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0006477HP:0009084Midline notch of upper alveolar ridge1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0006477HP:0009084Midline notch of upper alveolar ridge1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0006477HP:0000187Broad alveolar ridges1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0006477HP:0009085Alveolar ridge overgrowth1WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations
HP:0006477HP:0000187Broad alveolar ridges1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0006477HP:0009100Thick anterior alveolar ridges2CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0006477HP:0000216Broad secondary alveolar ridge2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0006477HP:0000216Broad secondary alveolar ridge2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6


Genes (44) :ARX ASXL1 ATP6V1B2 BRF1 C1R C1S CD96 CPLANE1 CTSC DHCR24 DHCR7 DIS3L2 DPH5 ELANE EVC EVC2 FAM149B1 FIG4 FTO GJA1 GNPTAB GNS IRF6 KIAA0753 KIF7 LYST NTRK1 OFD1 PDE6D PIGA RBM10 RERE SETBP1 SH3BP2 SH3PXD2B SNRPN TBC1D24 TBX15 TCTN3 TMEM216 TOPORS VAC14 WDR4 ZC4H2

Diseases (40) :OMIM:300004 OMIM:605039 ORPHA:79500 ORPHA:444072 ORPHA:75392 OMIM:211750 ORPHA:2754 ORPHA:678 OMIM:245000 OMIM:602398 OMIM:270400 ORPHA:2849 OMIM:620070 ORPHA:2686 OMIM:225500 OMIM:216340 ORPHA:3472 OMIM:612938 OMIM:218400 ORPHA:2710 OMIM:164200 OMIM:252500 OMIM:252940 ORPHA:1300 OMIM:119500 OMIM:200990 ORPHA:167 ORPHA:642 OMIM:311200 ORPHA:2750 OMIM:301072 ORPHA:2886 OMIM:616975 ORPHA:798 OMIM:118400 OMIM:249420 ORPHA:177907 OMIM:260660 OMIM:618346 OMIM:314580
 

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