| HPO |
HP:0000143 |
Rectovaginal fistula |
"The presence of a fistula between the vagina and the rectum." [HPO:probinson] |
— |
HP:0004320, HP:0100590 |
| HPO |
HP:0000144 |
Decreased fertility |
— |
— |
HP:0000080 |
| HPO |
HP:0000145 |
Transverse vaginal septum |
— |
— |
HP:0001153 |
| HPO |
HP:0000147 |
Polycystic ovaries |
— |
— |
HP:0000138 |
| HPO |
HP:0000148 |
Vaginal atresia |
"Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [HPO:probinson] |
— |
HP:0000142, HP:0001827 |
| HPO |
HP:0000149 |
Ovarian gonadoblastoma |
"The presence of a gonadoblastoma of the ovary." [eMedicine:986581, HPO:probinson] |
Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. |
HP:0000150, HP:0100615 |
| HPO |
HP:0000150 |
Gonadoblastoma |
"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [HPO:probinson] |
— |
HP:0000812, HP:0100728 |
| HPO |
HP:0000151 |
Aplasia of the uterus |
"Aplasia of the uterus." [HPO:probinson] |
— |
HP:0008684 |
| HPO |
HP:0000152 |
Abnormality of head or neck |
"An abnormality of head and neck." [HPO:probinson] |
— |
HP:0000118 |
| HPO |
HP:0000153 |
Abnormality of the mouth |
"An abnormality of the mouth." [HPO:probinson] |
— |
HP:0000271 |
| HPO |
HP:0000154 |
Wide mouth |
"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. |
HP:0011337 |
| HPO |
HP:0000155 |
Oral ulcer |
"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] |
— |
HP:0011830 |
| HPO |
HP:0000157 |
Abnormality of the tongue |
"Any abnormality of the tongue." [HPO:probinson] |
— |
HP:0000163 |
| HPO |
HP:0000158 |
Macroglossia |
"Increased length and width of the tongue." [PMID:19125428] |
Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. |
HP:0003712, HP:0030809 |
| HPO |
HP:0000159 |
Abnormal lip morphology |
"An abnormality of the lip." [HPO:probinson] |
— |
HP:0000163 |
| HPO |
HP:0000160 |
Narrow mouth |
"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [PMID:19125428] |
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. |
HP:0011337 |
| HPO |
HP:0000161 |
Median cleft lip |
"A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson] |
— |
HP:0000204 |
| HPO |
HP:0000162 |
Glossoptosis |
"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [HPO:probinson, PMID:19125428] |
Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. |
HP:0030809 |
| HPO |
HP:0000163 |
Abnormal oral cavity morphology |
"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [HPO:probinson] |
— |
HP:0031816 |
| HPO |
HP:0000164 |
Abnormality of the dentition |
"Any abnormality of the teeth." [HPO:ibailleulforestier] |
Any abnormality of the primary (deciduous) or permanent teeth. |
HP:0000163 |
| HPO |
HP:0000166 |
Severe periodontitis |
"A severe form of periodontitis." [HPO:probinson] |
— |
HP:0000704 |
| HPO |
HP:0000168 |
Abnormality of the gingiva |
"Any abnormality of the gingiva (also known as gums)." [HPO:probinson] |
The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. |
HP:0011830 |
| HPO |
HP:0000169 |
Gingival fibromatosis |
"The presence of fibrosis of the gingiva." [HPO:probinson] |
Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. |
HP:0000168, HP:0010614 |
| HPO |
HP:0000171 |
Microglossia |
"Decreased length and width of the tongue." [PMID:19125428] |
Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. |
HP:0010295 |
| HPO |
HP:0000172 |
Abnormal uvula morphology |
"Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson] |
— |
HP:0100736 |