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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cleft maxillary alveolar ridge
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Accession:HP:0010289 term browser browse the term
Definition:A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.
Comment:The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine.
Synonyms:exact_synonym: Alveolar cleft;   Alveolar ridge cleft;   Cleft anterior maxilla;   Cleft maxillary alveolus;   Cleft of alveolar ridge of maxilla;   Cleft of gum ridge;   Notch of alveolar ridge;   Notch of gum ridge
 narrow_synonym: Cleft of alveolar process;   Notch of alveolar process
 alt_id: HP:0410003
 xref: SNOMEDCT_US:445306000;   UMLS:C1398533;   UMLS:C2919907;   UMLS:C4280386


show annotations for term's descendants           Sort by:
Cleft maxillary alveolar ridge term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUAK2 NUAK family kinase 2 IAGP HPO MIM:619452 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
Unilateral alveolar cleft of maxilla term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of head or neck 5200
        Abnormality of the head 5171
          Craniofacial cleft 666
            Orofacial cleft 660
              Cleft maxillary alveolar ridge 3
                Bilateral alveolar cleft of maxilla 0
                Complete cleft maxillary alveolar ridge 0
                Incomplete cleft maxillary alveolar ridge 0
                Unilateral alveolar cleft of maxilla 1
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of head or neck 5200
        Abnormality of the head 5171
          Abnormality of the face 4719
            Abnormality of the mouth 3471
              Abnormal oral morphology 3372
                Abnormal oral cavity morphology 3348
                  Orofacial cleft 660
                    Cleft maxillary alveolar ridge 3
                      Bilateral alveolar cleft of maxilla 0
                      Complete cleft maxillary alveolar ridge 0
                      Incomplete cleft maxillary alveolar ridge 0
                      Unilateral alveolar cleft of maxilla 1
paths to the root