| 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:0000085 | Horseshoe kidney | |
Show
|
| HP:0000104 | Renal agenesis | |
Show
|
| HP:0000143 | Rectovaginal fistula | "The presence of a fistula between the rectum and the vagina." [HPO:curators] |
Show
|
| HP:0000157 | Abnormality of the tongue | "Any abnormality of the tongue." [HPO:curators] |
Show
|
| HP:0000161 | Median cleft lip | "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." [HPO:curators] |
Show
|
| HP:0000168 | Anormality of the gingiva | "Any abnormality of the gingiva (also known as gums). The gingiva consists of the mucosal tissue that lies over the alveolar bone." [HPO:curators] |
Show
|
| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
| HP:0000176 | Submucous cleft palate | "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] |
Show
|
| HP:0000180 | Lobulated tongue | |
Show
|
| HP:0000190 | Frenular abnormality | "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson] |
Show
|
| HP:0000191 | Oral frenula | |
Show
|
| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
Show
|
| HP:0000199 | Tongue nodules | |
Show
|
| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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:0000276 | Long face | |
Show
|
| HP:0000278 | Retrognathia | |
Show
|
| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000322 | Short philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
Show
|
| HP:0000368 | Low-set, posteriorly rotated ears | |
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:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000426 | Prominent nasal bridge | |
Show
|
| HP:0000445 | Broad nose | |
Show
|
| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
Show
|
| HP:0000455 | Broad nasal tip | |
Show
|
| HP:0000457 | Flat nose | |
Show
|
| HP:0000496 | Abnormality of eye movement | "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] |
Show
|
| HP:0000520 | Proptosis | |
Show
|
| HP:0000565 | Esotropia | |
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:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, 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 or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0001161 | Polydactyly (hands) | |
Show
|
| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
Show
|
| HP:0001171 | Ectrodactyly (hands) | |
Show
|
| HP:0001177 | Preaxial polydactyly (hands) | "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001320 | Cerebellar vermis hypoplasia | |
Show
|
| HP:0001328 | Learning disability | |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
Show
|
| HP:0001388 | Joint laxity | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001562 | Oligohydramnios | |
Show
|
| HP:0001601 | Laryngomalacia | |
Show
|
| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
Show
|
| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
Show
|
| HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, 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 toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
Show
|
| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
Show
|
| HP:0001829 | Polydactyly (feet) | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
Show
|
| HP:0002059 | Cerebral atrophy | |
Show
|
| HP:0002089 | Pulmonary hypoplasia | |
Show
|
| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
Show
|
| HP:0002132 | Porencephaly | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002269 | Neuronal migration disorder | |
Show
|
| HP:0002419 | Molar tooth sign on MRI | |
Show
|
| HP:0002444 | Hypothalamic hamartoma | "Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency." [HPO:curators] |
Show
|
| HP:0002553 | Arched eyebrows | |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002751 | Kyphoscoliosis | |
Show
|
| HP:0002876 | Tachypnea, episodic | |
Show
|
| HP:0002970 | Genu varum | |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
Show
|
| HP:0003812 | Phenotypic variability | |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0004422 | Biparietal narrowing | "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] |
Show
|
| HP:0004871 | Perineal fistula | "The presence of a fistula (abnormal tunnel) between the bowel and the perineum (diamond-shaped region of the body between the pubic arch and the anus)." [HPO:curators] |
Show
|
| HP:0005736 | Hypoplastic tibia | |
Show
|
| HP:0005772 | Aplasia/Hypoplasia of the tibia | "Absence or underdevelopment of the tibia." [HPO:curators] |
Show
|
| HP:0005944 | Bilateral lung agenesis | |
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:0006145 | Central Y-shaped metacarpal | "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators] |
Show
|
| HP:0007036 | Hypoplasia of olfactory tract | |
Show
|
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0008207 | Primary adrenal insufficiency | |
Show
|
| HP:0008689 | Bilateral cryptorchidism | |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0009084 | Midline notch of upper alveolar ridge | |
Show
|
| HP:0009381 | Hypoplastic/small fingers | |
Show
|
| HP:0010285 | Oral synechia | "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [pmid:19125428] |
Show
|
| HP:0010442 | Polydactyly | |
Show
|
| HP:0010469 | Aplasia of the testes | "Absence of the testes." [HPO:curators] |
Show
|
| HP:0010566 | Hamartoma | "A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [HPO:curators] |
Show
|
| HP:0011255 | Absent crus of helix | "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [pmid:19152421] |
Show
|
| HP:0011267 | Microtia, third degree | "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421] |
Show
|
| HP:0011802 | Hamartoma of tongue | |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0012157 | Subcortical cerebral atrophy | "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] |
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:0025023 | Rectal atresia | "A developmental defect resulting in complete obliteration of the lumen of the rectum.
That is, there is an abnormal closure, or atresia of the tubular structure of the
rectum." [] {comment="HPO:probinson", comment="PMID:20006038"} |
Show
|
| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
Show
|
| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
Show
|
| HP:0030868 | Monorchism | "Having only one testis in the scrotum." [HPO:probinson] |
Show
|
| HP:0040019 | Finger clinodactyly | |
Show
|
| HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
Show
|
| HP:0100260 | Central polydactyly | |
Show
|
| HP:0100308 | Cerebral cortical hemiatrophy | |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
