| HPO |
HP:0200158 |
Agenesis of permanent mandibular lateral incisor |
— |
— |
HP:0200154 |
| HPO |
HP:0200159 |
Agenesis of primary mandibular lateral incisor |
— |
— |
HP:0200154 |
| HPO |
HP:0200160 |
Agenesis of maxillary incisor |
— |
— |
HP:0006485 |
| HPO |
HP:0200161 |
Agenesis of mandibular incisor |
— |
— |
HP:0006485 |
| HPO |
HP:0400000 |
Tall chin |
"Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." [eom:96d8ca16a3c80216, PMID:19125436] |
— |
HP:0000306 |
| HPO |
HP:0400001 |
Chin with vertical crease |
"Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest." [eom:8a5493c72e0dd13c, PMID:19125436] |
The vertical shape must be distinguished from H-shaped crease of the chin. |
HP:0000306 |
| HPO |
HP:0400002 |
Extra concha fold |
"Folds or ridges within the concha that are distinct from the crus helix." [eom:40563f1f62db2319, PMID:19152421] |
— |
HP:0000356 |
| HPO |
HP:0400003 |
Focal absence of the external ear |
"Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe)." [eom:5b0e213b31288acd, PMID:19152421] |
— |
HP:0008772 |
| HPO |
HP:0400004 |
Long ear |
"Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2028381d5c61842a, PMID:19152421] |
The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). |
HP:0000377 |
| HPO |
HP:0400005 |
Short ear |
"Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2cff5ac9b681fc73, PMID:19152421] |
The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). |
HP:0000377 |
| HPO |
HP:0400007 |
Polymenorrhea |
"Frequent menses; menstrual cycles lasting less than 21 days." [PMID:22594864] |
— |
HP:0000140 |
| HPO |
HP:0400008 |
Menometrorrhagia |
"Prolonged/excessive menses and bleeding at irregular intervals." [PMID:22594864] |
— |
HP:0000140 |
| HPO |
HP:0410000 |
Abnormality of vomer |
"An abnormality of the vomer." [GOC:NV] |
— |
HP:0011821 |
| HPO |
HP:0410003 |
Cleft maxillary alveolus |
"Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. 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." [] |
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 |
HP:0000202 |
| HPO |
HP:0410004 |
obsolete Cleft secondary palate |
— |
— |
— |
| HPO |
HP:0410005 |
Cleft hard palate |
— |
— |
HP:0000175 |
| HPO |
HP:0410006 |
Abnormality of ophthalmic artery |
"Abnormality of the first branch of the internal carotid artery." [ORCID:0000-0001-5889-4463] |
The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. |
HP:3000062 |
| HPO |
HP:0410007 |
obsolete Abnormality of cartilage morphology |
— |
— |
— |
| HPO |
HP:0410008 |
Abnormality of the peripheral nervous system |
"Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [ORCID:0000-0001-5889-4463] |
— |
HP:0000707 |
| HPO |
HP:0410009 |
Abnormality of the somatic nervous system |
"Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements." [ORCID:0000-0001-5889-4463] |
The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. |
HP:0410008 |
| HPO |
HP:0410010 |
Abnormality of somatic nerve plexus |
"Any abnormality of the somatic nerve plexus." [ORCID:0000-0001-5889-4463] |
— |
HP:0410009 |
| HPO |
HP:0410011 |
Abnormality of masticatory muscle |
"Any abnormality of the masticatory muscle." [ORCID:0000-0001-5208-3432] |
— |
HP:0045037 |
| HPO |
HP:0410012 |
Abnormal mouth floor morphology |
"Any abnormality of the mouth floor." [ORCID:0000-0001-5208-3432] |
— |
HP:0000163 |
| HPO |
HP:0410013 |
Abnormality of the submandibular region |
"Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery." [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432] |
— |
HP:0000271 |
| HPO |
HP:0410014 |
Abnormality of ganglion |
"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] |
— |
HP:0000707 |