| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] |
Show
|
| 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] |
Show
|
| 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:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
Show
|
| HP:0000083 | Renal failure | |
Show
|
| HP:0000085 | Horseshoe kidney | |
Show
|
| HP:0000089 | Renal hypoplasia | |
Show
|
| HP:0000093 | Proteinuria | |
Show
|
| HP:0000097 | Focal segmental glomerulosclerosis | |
Show
|
| HP:0000100 | Nephrotic syndrome | |
Show
|
| HP:0000104 | Renal agenesis | |
Show
|
| HP:0000110 | Renal dysplasia | |
Show
|
| HP:0000148 | Vaginal atresia | |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000480 | Retinal coloboma | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
Show
|
| HP:0000533 | Chorioretinal atrophy | |
Show
|
| HP:0000541 | Detached retina | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000588 | Optic nerve coloboma | |
Show
|
| HP:0000608 | Macular degeneration | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000786 | Primary amenorrhea | |
Show
|
| HP:0000787 | Kidney stones | |
Show
|
| HP:0000813 | Bicornuate uterus | |
Show
|
| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
Show
|
| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
Show
|
| HP:0000974 | Hyperextensible skin | |
Show
|
| HP:0000977 | Soft skin | |
Show
|
| HP:0001093 | Optic nerve dysplasia | |
Show
|
| HP:0001144 | Orbital cysts | "Presence of cysts in the region of teh orbita. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:curators] |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001388 | Joint laxity | |
Show
|
| HP:0001562 | Oligohydramnios | |
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:0002009 | Potter facies | |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002171 | Gliosis | |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0003774 | End stage renal disease | |
Show
|
| HP:0003812 | Phenotypic variability | |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0003829 | Incomplete penetrance | |
Show
|
| HP:0004712 | Malrotation of the kidney | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0007099 | Arnold-Chiari type I malformation | "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] |
Show
|
| HP:0011509 | Macular hyperpigmentation | "Increased amount of pigmentation in the `macula lutea` (FMA:58637)." [DDD:ncarter] |
Show
|
| HP:0012019 | Lens luxation | "Complete dislocation of the lens of the eye." [HPO:probinson] |
Show
|
| HP:0025514 | Morning glory anomaly | "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic." [] |
Show
|
