| 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] |
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| 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] |
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| 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] |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000059 | Hypoplastic labia majora | |
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| HP:0000162 | Glossoptosis | |
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| HP:0000188 | Short upper lip | |
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| HP:0000216 | Broad secondary alveolar ridge | |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| 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] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000331 | Small chin | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| 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] |
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| HP:0000385 | Hypoplastic ear lobes | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000464 | Abnormality of the neck | |
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| 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] |
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| HP:0000520 | Proptosis | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000647 | Sclerocornea | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000712 | Emotional lability | |
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| HP:0000713 | Agitation | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000739 | Anxiety | |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000773 | Short ribs | |
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| HP:0000782 | Abnormality of the scapulae | "Any abnormality of the scapulae (shoulder blades)." [HPO:curators] |
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| HP:0000894 | Short clavicles | |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| 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] |
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| HP:0001182 | Tapered fingers | |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| 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] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| 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] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001525 | Severe failure to thrive | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001622 | Premature birth | |
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| 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] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| 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] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001838 | Vertical talus | |
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| HP:0001840 | Metatarsus varus | "Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc s (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline." [HPO:curators] |
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| HP:0001871 | Hematological abnormality | |
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| HP:0001920 | Renal artery stenosis | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002094 | Dyspnea | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| HP:0002133 | Status epilepticus | |
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| HP:0002139 | Arrhinencephaly | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002359 | Frequent falls | |
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| HP:0002367 | Visual hallucinations | |
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| HP:0002384 | Complex partial seizures | "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002483 | Bulbar signs | |
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| HP:0002493 | Corticospinal tract dysfunction | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002561 | Absent nipples | |
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| HP:0002692 | Hypoplastic facial bones | |
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| HP:0002696 | Abnormality of the parietal bone | "Any abnormality of the parietal bones of the skull." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002827 | Dislocated hips | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003383 | Onion bulb formations on nerve biopsy | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003447 | Axonal loss | |
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| HP:0003470 | Paralysis | "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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| HP:0003828 | Variable expressivity | |
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| 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] |
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| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004993 | slender long bones with narrow diaphyses | |
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| HP:0005684 | Distal arthrogryposis | |
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| HP:0005793 | Absent/hypoplastic distal phalanges of hands and feet | |
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| HP:0005819 | Abnormally short and broad middle phalanges | |
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| HP:0005945 | Laryngeal obstruction | |
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| HP:0005989 | Redundant neck skin | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006466 | Contractures of the ankles | |
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| HP:0006628 | Absent sternal ossification | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
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| HP:0006710 | Aplasia/Hypoplasia of the clavicles | "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] |
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| HP:0006713 | Aplasia/Hypoplasia of the scapulae | |
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| HP:0007182 | Hypomyelination on nerve biopsy | |
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| HP:0007333 | Hypoplastic frontal lobes | "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] |
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| HP:0007354 | Amyotrophic lateral sclerosis | |
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| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
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| HP:0008362 | Aplasia/Hypoplasia of the hallux | "Absence or underdevelopment of the big toe." [HPO:curators] |
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| HP:0008386 | Aplasia/Hypoplasia of the nails | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008935 | Hypotonia, neonatal, generalized | |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand | "Absence or underdevelopment of the distal phalanges." [HPO:curators] |
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| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
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| HP:0009881 | Aplasia of the distal phalanges of the hand | |
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| HP:0010035 | Aplasia of the 1st metacarpal | "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] |
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| HP:0010067 | Aplasia/Hypoplasia of the 1st metatarsal | |
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| HP:0010102 | Aplasia of the distal phalanx of the hallux | |
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| HP:0010107 | Hypoplastic/small proximal phalanx of the hallux | |
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| HP:0010537 | Wide cranial sutures | "An abnormally increased width of the cranial sutures." [HPO:curators] |
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| HP:0010880 | Increased nuchal translucency | "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779] |
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| HP:0011061 | Abnormality of dental structure | "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] |
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| HP:0011309 | Tapered toe | "The gradual reduction in girth of the digit from proximal to distal." [pmid:19125433] |
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| HP:0011344 | Severe global developmental delay | "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
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| HP:0011451 | Congenital microcephaly | "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] |
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| HP:0012294 | Abnormality of the occipital bone | "Abnormality of the `occipital bone` (FMA:52735) of the skull." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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| HP:0012809 | Narrow nasal base | "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] |
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| HP:0030195 | Fatigable weakness of swallowing muscles | "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller] |
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| HP:0030196 | Fatigable weakness of respiratory muscles | "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
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| HP:0030816 | Gingival recession | "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] |
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| HP:0040111 | Bilateral external ear deformity | |
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| HP:0040163 | Abnormal pelvis bone morphology | |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100817 | Renovascular hypertension | "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." [HPO:probinson] |
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