All terms in HP
| Label | Id | Description |
|---|---|---|
| Severe limb shortening | HP_0200083 | |
| Absence of labia majora | HP_0008729 | |
| Hypoplasia of the vagina | HP_0008726 | [Developmental hypoplasia of the vagina.] |
| Gonadal hypoplasia | HP_0008639 | |
| Gonadal dysgenesis with female appearance, male | HP_0008723 | [Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.] |
| Urethral diverticulum | HP_0008722 | [The presence of a diverticulum (sac or pouch) in the wall of the urethra.] |
| Primary testicular failure | HP_0008720 | |
| Peripheral vitreoretinal degeneration | HP_0200071 | [A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.] |
| Peripheral retinal atrophy | HP_0200070 | |
| Respiratory insufficiency due to defective ciliary clearance | HP_0200073 | |
| Episodic quadriplegia | HP_0200072 | [Intermittent episodes of paralysis of all four limbs.] |
| sacral spinal cord ventral horn | UBERON_0032748 | |
| sacral spinal cord gray matter | UBERON_0029503 | |
| metacarpophalangeal joint of manual digit 3 | UBERON_0007741 | [A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 3.] |
| metacarpophalangeal joint of manual digit 5 | UBERON_0007747 | [A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5.] |
| metacarpophalangeal joint of manual digit 4 | UBERON_0007744 | [A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 4.] |
| Colorectal polyposis | HP_0200063 | [Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.] |
| Ribbonlike corneal degeneration | HP_0200066 | |
| Nonprogressive visual loss | HP_0200068 | |
| Recurrent spontaneous abortion | HP_0200067 | [Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.] |