| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000090 | Nephronophthisis | |
Show
|
| HP:0000105 | Enlarged kidneys | |
Show
|
| HP:0000800 | Cystic renal dysplasia | |
Show
|
| HP:0001395 | Hepatic fibrosis | |
Show
|
| HP:0001562 | Oligohydramnios | |
Show
|
| HP:0001660 | Persistant truncus arteriosus | "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators] |
Show
|
| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
Show
|
| HP:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
Show
|
| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0003774 | End stage renal disease | |
Show
|
| HP:0003826 | Stillborn or neonatal death | |
Show
|
| HP:0004734 | Renal cortical microcysts | |
Show
|
