| HPO |
HP:0000322 |
Short philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0002126 |
Polymicrogyria |
"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723] |
Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. |
HP:0002536 |
| HPO |
HP:0000475 |
Broad neck |
"Increased side-to-side width of the neck." [HPO:probinson] |
— |
HP:0000464 |
| HPO |
HP:0000324 |
Facial asymmetry |
"An abnormal difference between the left and right sides of the face." [HPO:probinson] |
— |
HP:0001999 |
| HPO |
HP:0009804 |
Tooth agenesis |
"The absence of one or more teeth from the normal series by a failure\nto develop" [HPO:sdoelken, PMID:31468724] |
Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. |
HP:0006483 |
| HPO |
HP:0000463 |
Anteverted nares |
"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422] |
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. |
HP:0000429, HP:0005105, HP:0005288 |
| HPO |
HP:0008723 |
Gonadal dysgenesis with female appearance, male |
"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [HPO:sdoelken] |
Very bad term - try to get rid of it later. |
HP:0000133 |
| HPO |
HP:0000151 |
Aplasia of the uterus |
"Aplasia of the uterus." [HPO:probinson] |
— |
HP:0008684 |
| HPO |
HP:0012870 |
Vanishing testis |
"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, PMID:22985611] |
— |
HP:0000035 |
| HPO |
HP:0031103 |
Decreased antimullerian hormone level |
"A reduction below the normal range of the antimullerian hormone in the circulation." [] |
— |
HP:0031101 |
| HPO |
HP:0008197 |
Absence of pubertal development |
— |
— |
HP:0008373 |
| HPO |
HP:0008232 |
Elevated circulating follicle stimulating hormone level |
"An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030346 |
| HPO |
HP:0011969 |
Elevated circulating luteinizing hormone level |
"An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030345 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0000786 |
Primary amenorrhea |
— |
— |
HP:0000141 |
| HPO |
HP:0100779 |
Urogenital sinus anomaly |
"A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
— |
HP:0000142, HP:0000795 |
| HPO |
HP:0040171 |
Decreased serum testosterone concentration |
— |
— |
HP:0030087, HP:0030349 |
| HPO |
HP:0100779 |
Urogenital sinus anomaly |
"A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
— |
HP:0000142, HP:0000795 |
| HPO |
HP:0003251 |
Male infertility |
— |
— |
HP:0000789, HP:0012041 |
| HPO |
HP:0000027 |
Azoospermia |
"Absence of any measurable level of sperm in his semen." [HPO:probinson, PMID:20514278] |
— |
HP:0008669 |
| HPO |
HP:0002225 |
Sparse pubic hair |
"Reduced number or density of pubic hair." [HPO:probinson] |
— |
HP:0008070, HP:0100133 |
| HPO |
HP:0000047 |
Hypospadias |
"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] |
— |
HP:0100627 |
| 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:0000771 |
Gynecomastia |
"Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] |
— |
HP:0031093 |