| HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [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:0000411 | Protruding ears | |
Show
|
| HP:0000678 | Dental overcrowding | |
Show
|
| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
Show
|
| HP:0001182 | Tapered fingers | |
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:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
|
| HP:0001601 | Laryngomalacia | |
Show
|
| HP:0001999 | Facial dysmorphism | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002719 | Recurrent infections | |
Show
|
| HP:0004415 | Pulmonary artery stenosis | |
Show
|
| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0006380 | Knee flexion deformities | |
Show
|
| HP:0006466 | Contractures of the ankles | |
Show
|
| HP:0008850 | Postnatal growth retardation, severe | |
Show
|
| HP:0009796 | Branchial cyst | "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of the second branchial cleft and consists of a subcutaneous cystic mass located between the sternocleidomastoid muscle and the pharynx." [HPO:curators] |
Show
|
| HP:0012033 | Sacral lipoma | "Presence of a lipoma in the region of the sacrum." [HPO:probinson] |
Show
|
| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
Show
|
| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
Show
|
