Term ID: |
10296 |
Name: |
Ankyloglossia |
Synonym: |
Tongue tie; Tongue tied |
Definition: |
Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. |
Comments: |
|
Reference: |
HP:0010296 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal hyoglossus muscle morphology (HP:3000051) 
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.. Abnormal lingual artery morphology (HP:3000074) 
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.. Abnormality of lingual tonsil (HP:3000076) 
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.. Abnormality of the tongue muscle (HP:0040173) 
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.. Aplasia/Hypoplasia of the tongue (HP:0010295) 
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.. Bifid tongue (HP:0010297) 
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.. Duplicated tongue (HP:0040294) 
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.. Furrowed tongue (HP:0000221) 
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.. Geographic tongue (HP:0025252) 
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.. Glossitis (HP:0000206) 
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.. Glossoptosis (HP:0000162) 
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.. Lobulated tongue (HP:0000180) 
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.. Macroglossia (HP:0000158) 
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.. Posteriorly placed tongue (HP:0009087) 
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.. Protruding tongue (HP:0010808) 
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.. Smooth tongue (HP:0010298) 
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.. Stiff tongue (HP:0031373) 
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.. Strawberry tongue (HP:0031042) 
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.. Tongue atrophy (HP:0012473) 
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.. Tongue nodules (HP:0000199) 
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.. Tongue telangiectasia (HP:0000227) 
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040284 - Very rare | | | 57 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | . | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | TBX22 CL E G H | 50945 | 11600 | OMIM:303400 | Cleft palate, X-linked | . | | | 28 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | | HP:0010296 | HP:0010296 | Ankyloglossia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
Genes (24) :AFF3 BCR CDC42BPB COL7A1 CRKL DDX59 FAM111A H4C5 LMNA MAPK1 MID1 MMP1 NXN OFD1 POU4F1 PRR12 ROR2 RSPO2 SETBP1 SLC37A4 SPTBN1 TBX22 TELO2 ZMPSTE24
Diseases (20) :OMIM:619297 ORPHA:261330 OMIM:619841 ORPHA:89842 ORPHA:79408 OMIM:174300 OMIM:602361 OMIM:619950 ORPHA:740 ORPHA:2745 ORPHA:1507 OMIM:311200 OMIM:619352 OMIM:619539 OMIM:618021 OMIM:616078 OMIM:619525 OMIM:619475 OMIM:303400 ORPHA:488642 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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