Onset of disease at the age of between 1 and 5 years. [DDD:hfirth]


Abnormal respiratory patterns
Unusual breathing patterns
Abnormal pattern of respiration

An anomaly of the rhythm or depth of breathing. [HPO:probinson]


A severe delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]


Posterior flattening of the skull
Flat posterior cranium

Reduced convexity of the occiput (posterior part of skull). [PMID:19125436]


Gothic palate
High narrow palate
Narrow and high arched palate
High vaulted palate
Narrow, highly arched palate
Narrow, highly arched roof of mouth
High, narrow palate
Narrow, high-arched roof of mouth

The presence of a high and narrow palate. [HPO:curators]


Upper limb undergrowth
Short arms
Shortening of the arms

Arm shortening because of underdevelopment of one or more bones of the upper extremity. [HPO:probinson]

Hypoplasia involving bones of the upper limbs


Contractures of the ankles
Ankle contractures
Ankle contracture

A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [HPO:probinson]


Abnormality of visual tracking
Impairment of visual pursuit

An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. [HPO:probinson]


Thin facies
Decreased horizontal dimension of face
Narrow facies
Narrow face
Transverse hypoplasia of face
Horizontal insufficiency of face
Horizontal deficiency of face
Decreased breadth of face
Decreased transverse dimension of face
Transverse insufficiency of face
Transverse deficiency of face
Horizontal hypoplasia of face

Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). [PMID:19125436]


Excessive skin wrinkling on back of hands and fingers

Excessive skin wrinkling on dorsum of hands and fingers


Wide, concave posterior rib end. [HPO:probinson]


Flat acetabular roofs
Horizontal acetabular roofs
Flattened acetabular roof
Horizontal acetabulae
Horizontal acetabular roof

Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. [HPO:probinson]


A general term that describes a congenital defect in the iliac wing resulting from abnormal development. []


Reduced size of the cerebral cortex. [HPO:probinson]


Loss of subcutaneous adipose tissue from face, progressive

Progressive loss of facial subcutaneous adipose tissue

Progressive loss of subcutaneous adipose tissue from face

Progressive loss of facial adipose tissue


Decreased serum complement C3 level
Decreased serum C3

A reduced level of the complement component C3 in circulation. [https://emedicine.medscape.com/article/135478-overview]


Clinical heterogeneity
Variable phenotype
Variable phenotypic severity

A variability of phenotypic features. [HPO:probinson]


A complete loss of the ability to perceive vibration. [HPO:curators]


Decreased pain sensation
Decreased pinprick sensation
Impaired pain sensation

Reduced ability to perceive painful stimuli. [HPO:probinson]


Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. [HPO:curators]


An increased tendency to fractures following trauma, with fractures occurring without pain. [HPO:curators]


Intermittent abnormally low body temperature

Episodes of reduced body termperature. [HPO:probinson]


Impaired ability to form peer relationships


Inflexible adherence to routines or rituals


Gross motor delay
Delayed motor skills
Developmental delay, gross motor
Delayed gross motor development
Delayed gross motor skills

Abnormally late development of the coordination of the muscles, bones, and/or nerves that produces whole body and large muscle group movements.


Progressive intervertebral space narrowing

A progressive form of decreased height of the intervertebral disk. [HPO:probinson]


Over-folded helices
Overfolded ears
Overfolded helices

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. [HPO:probinson, PMID:19152421]


Increased thickness of the helix of the ear. [HPO:probinson]


Regional increase in the width (height) of the lateral eyebrow. [HPO:probinson]


Progressive acroosteolysis of the clavicle

Progressive bone resorption in the distal part of the clavicle. [HPO:probinson]


Decreased width of nasal dorsum
Thin dorsum of nose
Decreased width of dorsum of nose
Narrow nasal ridge
Narrow nasal dorsum
Narrow dorsum of nose
Thin nasal ridge
Pinched nose
Thin nasal dorsum
Decreased width of nasal ridge

Decreased width of the nasal ridge. [PMID:19152422]


Loss of fat around neck
Loss of adipose tissue around the neck

Reduced amount of adipose tissue in the region of the neck. [HPO:probinson]


Loss of fat tissue below the skin in limbs

Loss of subcutaneous adipose tissue from extremities

Loss of subcutaneous adipose tissue in limbs

Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. [HPO:probinson]


Decreased volume of facial adipose tissue

Decreased amount of facial adipose tissue

Loss of facial subcutaneous adipose tissue

Loss of subcutaneous adipose tissue from face

Loss of normal subcutaneous fat tissue in the face. [HPO:curators]


Increased subcutaneous truncal adipose tissue

The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. [HPO:curators]


Marked subcutaneous veins
Prominent veins

A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. []


Insulin-resistant diabetes mellitus at puberty


Abnormally prominent umbilicus (belly button). [HPO:curators]


Generalised muscular appearance from birth

Generalized muscular appearance from birth


Reduced circulating leptin level
Decreased serum leptin

A decreased concentration of leptin in the blood. [HPO:probinson, PMID:16932309]


Full thickness defect of the lower eyelid

A short discontinuity of the margin of the lower eyelid. [HPO:probinson]


Underdevelopment of the ulna on only one side. [HPO:probinson]


Bilateral clubfeet
Club foot on both sides
Bilateral clubfoot

Bilateral clubfoot deformity (see HP:0001762). [HPO:probinson]


Symmetric syndactyly, toes 4 and 5
Webbed 4th-5th toes
Syndactyly of toes 4 and 5

Syndactyly with fusion of toes four and five. [HPO:sdoelken]


Absence of P wave on electrocardiography

The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. []


Missing nasal bridge
Agenesis of bridge of nose
Absent nasal bridge
Absent bridge of nose
Agenesis of nasal bridge
Missing bridge of nose


Abnormal isoelectric focusing of serum transferrin, type I pattern

Isoelectric focusing of serum transferrin consistent with CDG type I

Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. [HPO:probinson, PMID:15105360, PMID:22516080]


Partial auditory seizure
Focal sensory auditory seizure
Focal auditory seizure
Auditory aura

Focal sensory seizure with auditory features

A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. [HPO:jalbers, PMID:28276062, PMID:28276064]


Bone marrow biopsy shows erythroid hyperplasia


Generalized muscle atrophy, proximal and distal

Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. [HPO:probinson]

Generalised muscle atrophy, proximal and distal


Hypertrichosis, congenital anterior cervical

Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. [HPO:probinson, PMID:20400390]


Telangiectases in the area of the nails. [HPO:probinson]


Square iliac bones
Squaring of iliac bones

A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. [HPO:probinson]


The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. [PMID:12700289]


A tendency or compulsion to examine objects by mouth. [HPO:sdoelken]


Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [HPO:sdoelken]


Absent first metacarpal
Absent 1st long bone of hand

Absent first metacarpal (long bone) of the hand. [HPO:probinson]


Malformation of the rib cage. [HPO:probinson]


Metaphyseal irregularities
Irregular metaphyses
Metaphyseal fraying
Frayed, irregular, metaphyses
Frayed, irregular metaphyses
Irregular wide portion of a long bone

Irregularity of the normally smooth surface of the metaphyses. [HPO:probinson]


Applies to a disease manifestation that quickly increases in scope or severity over the course of time. []


Anteriorly displaced anus
Anus anteposition

Anterior malposition of the anus. [HPO:probinson]


A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


Myoglobinuria, recurrent
Recurrent myoglobinuria

Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. [HPO:probinson]


Paroxysmal, recurrent episodes of vomiting. [HPO:curators]


Decreased amplitudes on flash visual electroretinogram

Decreased light- and dark-adapted electroretinogram amplitude

Descreased amplitude of eletrical response upon electroretinography. [HPO:probinson]


Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. [HPO:probinson]


A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. [HPO:probinson]


Reduced platelet count that occurs sporadically, i.e., it comes and goes. [HPO:probinson, PMID:8384898]


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


Underdevelopment of the innermost thighbone end part

Hypoplasia of the capital femoral epiphysis

Underdevelopment of the proximal epiphysis of the femur. [HPO:probinson]


A duplication of the renal pelvis. [HPO:probinson]


Birth length greater than 97th percentile


A cleft of the lip with overlying mucous membrane. [HPO:probinson]


Two carpal ossification centres present at birth

Two carpal ossification centers present at birth


Decreased proportion of CD8-positive, alpha-beta T cells

Decreased proportion of CD8-positive T cells

A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. [HPO:probinson]


Abnormal morphology of vertebral body. []


T-wave abnormalities
EKG: T-wave abnormalities

An electrocardiographic finding of a T wave which appears peaked, inverted, flattened or biphasic.


Cystic retinal degeneration
Peripheral cystoid degeneration

Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. [ORCID:0000-0003-0986-4123]


Progressive visual acuity loss
Visual loss, progressive
Progressive visual loss
Progressive vision loss
Vision loss, progressive
Progressive loss of vision
Progressive visual impairment
Slowly progressive visual loss

A reduction of previously attained ability to see. [HPO:probinson]


A severe form of lactic acidemia. [HPO:probinson]


A chronic form of lactic acidemia. [HPO:probinson]


Dysfunctional alternative complement pathway

An abnormality of the functioning of any aspect of the alternative complement pathway. []


Increased thickness of bone of skull base


Reduced ability to flex (bend) the knee joint. []


A decreased concentration of citrulline in the blood. [HPO:gcarletti]


An increased concentration of glutamine in the blood. [HPO:gcarletti, PMID:4696900]


A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. [HPO:probinson]


Proximal tubular defect
Selective proximal tubular damage
Proximal tubule dysfunction
Proximal renal tubule defect
Proximal renal tubulopathy

A proximal renal tubular disorder resulting in diminished reabsorption of phosphate, glucose, amino acids, urate, and low molecular weight proteins.


Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). [PMID:95574]


Severely decreased muscle tone
Hypotonia, severe

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [HPO:curators]


Decreased cervical spine flexion due to contractures of posterior cervical muscles


Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. [HPO:probinson]


Presence of only 11 pairs of ribs. [HPO:probinson]


Thick vermilion border of lower lip
Prominent lower lip
Plump lower lip
Increased volume of lower lip vermilion
Thick red part of the lower lip
Increased volume of lower lip
Prominent lower lip vermilion
Full lower lip vermilion
Increased height of lower lip vermilion
Thick lower lip

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). [HPO:curators, PMID:19125428]


Narrow forehead
Bitemporal skull narrowing
Bitemporal narrowness
Narrow bitemporal width
Decreased width of the forehead
Narrow bitemporal diameter
Temporal narrowness
Bitemporal narrowing
Intertemporal narrowing

Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). [PMID:19125436]


Triangular shaped tip of nose
Triangular nasal tip


Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. [PMID:19125428]


Increased size of frontal region of face


The presence of a folate sensitive fragile site at chromosome Xq28. [HPO:probinson]


Pronounced philtrum
Increased depth of philtrum
Philtrum, deep
Prominent philtrum

Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. [PMID:19152422]


Elongated nose
Increased nasal length
Increased length of nose
Nasal elongation
Increased nasal height
Long nose
Increased height of nose

Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. [PMID:19152422]


Elongated neck
Cervical elongation
Long neck
Increased cervical length
Increased length of neck

Increased inferior-superior length of the neck. [HPO:probinson]


Anterior concavity of thoracic vertebrae


Hypoplasia of the distal phalanges of the hand

Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. [HPO:probinson, PMID:19125433]


Excessive amount of hair growth on forehead. [DDD:jclayton-smith]


Noncompaction of the ventricular myocardium

A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. [HPO:probinson, PMID:15210614, PMID:24282766]


Elevated amniotic fluid alpha fetal protein

Elevated amniotic fluid alpha foetal protein

Elevated amniotic fluid alpha-fetoglobulin

Elevated amniotic fluid alpha-1-fetoprotein

Elevated amniotic fluid alpha-fetoprotein

An elevation of alpha-feto protein measured in the amniotic fluid. [HPO:curators]


A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. []


Increased urine bicarbonate concentration

Abnormally increased concentration of hydrogencarbonate in the urine. [HPO:probinson]


Pyruvate dehydrogenase complex deficiency

Decreased activity of the pyruvate dehydrogenase complex


The presence of multiple impacted teeth. [HPO:ibailleulforestier]


Reduced ability of the natural killer cell to function in the adaptive immune response. [HPO:probinson]


Increased levels of IgM
Increased IgM levels

An abnormally increased level of immunoglobulin M in blood. [HPO:probinson]


Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. [DDD:hfirth]


Underdevelopment of the lesser trochanter. [HPO:probinson]


Increased length of the neck of the femur. [PMID:33252156]


Small patella
Underdeveloped kneecap
Hypoplastic patellae
Small patellae
Small kneecap

Underdevelopment of the patella. [HPO:curators]


Sandal gap between first and second toes

Wide space between first and second toes

Increased space between first and second toes

A widely spaced gap between the first toe (the great toe) and the second toe. [HPO:probinson, PMID:19125433]


Anteverted nostrils
Upturned nasal tip
Nostrils anteverted
Anteverted nares
Anteverted nose
Nasal tip, upturned
Upturned nares
Upturned nose
Upturned nasal tips

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). [PMID:19152422]


Underdevelopment of the pectoralis major. [HPO:probinson]


Limited movement of the wrist
Limited wrist movement

An abnormal limitation of the mobility of the wrist. [HPO:probinson]


Missing lower central incisor
Missing mandibular central incisor
Absence of mandibular central incisor


Solitary midline maxillary central incisor

Solitary median maxillary central incisor syndrome

A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. [PMID:19125428]


Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. [HPO:probinson]


Shortened 4th long bone of hand
Hypoplastic fourth metacarpal
Short 4th metacarpals
Short fourth metacarpals

Short fourth metacarpal bone. [HPO:probinson]


Laryngotracheal cleft
Laryngotracheoesophageal cleft i

A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight.


Excess skin over the neck
Excessive nuchal skin
Redundant skin over the neck
Redundant neck skin
Redundant skin folds of neck
Redundant nuchal skin
Excess neck skin

Excess skin around the neck, often lying in horizontal folds. [PMID:19125436]


Mixed respiratory and metabolic acidosis


Abnormal increase in systolic blood pressure. [HPO:probinson]


Abnormal increase in diastolic blood pressure. [HPO:probinson]


An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. [PMID:18451345]


Hypoplasia of the cerebellar vermis
Hypoplastic cerebellar vermis
Cerebellar vermal hypoplasia

Underdevelopment of the vermis of cerebellum. [HPO:probinson]


Widened cavum septum pellucidum
Persistent cavum septum pellucidum
Cavum septum pellucidum

If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. [HPO:curators]


Ureteral anomalies
Ureter issue
Abnormality of the ureters

An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. [HPO:probinson]


Excessive growth of inner surface of the skull bones

Hyperostosis of the internal surface of the cranial bones

Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. [HPO:probinson]

Overgrowth of the inner surface of the skull bones


Thickened cortices of long bones
Broad cortex of long bones
Cortical thickening of the long bones

Abnormal thickening of the cortex of long bones. [HPO:curators]


Metacarpal diaphyseal endosteal sclerosis

Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. [HPO:probinson]


Metatarsal diaphyseal endosteal sclerosis

Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. [HPO:curators]


A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. [PMID:8152765]


A mild form of myopia with up to -3.00 diopters. [ORCID:0000-0003-0986-4123]


Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. [HPO:probinson]


A type of Horner syndrome with congenital onset. [HPO:probinson]


Abnormal wrist bones
Anomalous carpal bones
Carpal bone anomalies
Abnormality of the carpal bones
Abnormal carpal bones

An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). [HPO:probinson]


Underdeveloped mandibular rami
Decreased height of mandibular ramus
Short body and ramus of mandible
Short mandibular ramus


Complete heart block with narrow QRS complexes

A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. []


The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. [HPO:curators]


Carpal delayed ossification
Delayed maturation of carpal bones
Delayed carpal bone age
Delayed carpal ossification

Ossification of carpal bones occurs later than age-adjusted norms. [HPO:probinson]


Agenesis of the halluces
Aplasia of the hallux
Missing big toe
Absent big toe

Aplasia of the hallux, that is, a development defect such that the big toe does not develop. [HPO:probinson]


First metatarsal hypoplasia
Short 1st long bone of foot
First metatarsals hypoplastic

Short first metatarsal bone. [HPO:probinson]


Subclinical abnormal liver function tests


Giant pigmented nevus
Giant pigmented mole
Giant pigmented hairy nevus

A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.


Supraorbital hyperostosis
Prominent supraorbital ridge
Protruding supraorbital ridge
Prominent supraorbital margins
Prominent brow

Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. [PMID:19125436]


Difficulty in seeing moving objects. [PMID:25770143]


Rib abnormalities
Rib anomalies
Abnormal rib morphology


Complete or partial merging of the posterior part of adjacent ribs. [HPO:probinson]


A progressive form of hearing impairment. [HPO:probinson]


irregular vertebral plates
Irregular end plates
endplate irregularities
endplate irregularity
end-plate irregularities
vertebral endplate irregularity
Irregular endplates

An irregular surface of the vertebral end plates, which are normally relatively smooth. [HPO:probinson]


Increase in bone density of the vertebral body. [HPO:probinson]


Flattened proximal femoral epiphyses
Flat capital femoral epiphyses
Flat end part of innermost thighbone
Flat femoral capital epiphyses
Flat proximal femoral epiphyses

An abnormal flattening of the proximal epiphysis of the femur. [HPO:probinson]


Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. [HPO:probinson]


Centrally nucleated skeletal muscle fibers

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [HPO:probinson, PMID:20181480]

Centrally nucleated skeletal muscle fibres


Wide metacarpals
Wide long bones of hand

Abnormally broad metacarpal bones. [HPO:probinson]


Wide long bone of foot
Broad metatarsals

Increased side-to-side width of a metatarsal bone. [HPO:probinson]


Low frontal hairline
Low-set frontal hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. [PMID:19125436]


Insulin-dependent but ketosis-resistant diabetes

Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. [HPO:probinson]


The presence of abnormal calcium deposition lesions in the pancreas. [HPO:probinson]


An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. [HPO:probinson, PMID:11544001]


Muscular atrophy affecting the muscles of the limb girdle. [HPO:curators]


Corpus callosum abnormality
Abnormal corpus callosum
Abnormality of the corpus callosum

Abnormality of the corpus callosum. [HPO:probinson, PMID:21263138]


An axonal neuropathy of peripheral sensory nerves. [HPO:curators]


Hypoplastic earlobes
Small earlobes
Hypoplastic lobules
Small earlobe

Reduced volume of the earlobe. [HPO:probinson, PMID:19152421]


Underdevelopment of the helix, i.e., of the outer rim of the pinna. [HPO:curators]


Brainstem hypoplasia
Hypoplastic brain stem
Hypoplastic brainstem
Small brainstem
Underdeveloped brainstem

Underdevelopment of the brainstem. [HPO:probinson]


Lack of formation and mineralization of the ribs in utero. [HPO:probinson]


Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. [UToronto:bgallinger]


Absent in utero ossification of vertebral bodies


Hyperpigmented macules
Hyperpigmented spots
Hyperpigmented skin patches

A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. [DDD:cmoss]


Recurrent upper and lower respiratory tract infections

Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. []


Abnormality of cardiac conduction system

Any anomaly of the progression of electrical impulses through the heart. []


Retruded nasal ridge
Depressed nasal dorsum
Recessed dorsum of nose
Retruded dorsum of nose
Flat nose
Depressed dorsum of nose
Recessed nasal ridge
Flat nasal dorsum
Recessed nasal dorsum
Retruded nasal dorsum
Flat dorsum of nose

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. [HPO:probinson, PMID:19152422]


Hypoplastic phalanges of the little finger

Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. [HPO:sdoelken]


Vascular abnormalities restricted to skin


Lack of eyelashes. [HPO:curators, PMID:19125427]


Muscular hypertrophy of the calf muscles

Muscle hypertrophy affecting the calf muscles. [HPO:curators]


A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. [HPO:probinson]


Enlargement of the outermost thighbone end part

Enlargement of the distal femoral epiphysis

An abnormal enlargement of the distal epiphysis of the femur. [HPO:probinson]


Short palm. [HPO:probinson, PMID:19125433]


Wide fingernails
Broad fingernails
Broad nail

Increased width of nail. [HPO:probinson]


Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. []


Hearing loss, sensorineural, progressive

Progressive sensorineural hearing impairment

A progressive form of sensorineural hearing impairment. [HPO:probinson]


Excessive focal folding of myelin sheaths

The presence of excessive redundant myelin in the peripheral nerve sheath. [HPO:probinson, PMID:10932274]


Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. [HPO:jbaets]


Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [HPO:probinson]


Reversible renal failure
Reversible kidney failure

Acute renal failure with resolution of manifestations. [HPO:probinson]


Thin eyelashes
Sparse eyelashes
Scanty eyelashes
Scant eyelashes
Partial absence of eyelashes
Hypotrichosis of eyelashes

Decreased density/number of eyelashes. [PMID:19125427]


Osteosclerosis, diffuse symmetrical
Diffuse, symmetrical osteosclerosis
Generalised osteosclerosis

An abnormal increase of bone mineral density with generalized involvement of the skeleton. [HPO:probinson]


The formation of an epidermal layer which lacks nuclei during normal keratinization.


A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson, PMID:20671861]


A reduction in the rate of cholesterol esterification. [HPO:probinson, PMID:3378364]


Decreased reactivity to skin test antigens

Deficiency of delayed skin hypersensitivity

Decreased ability to react to a delayed hypersensitivity skin test. [HPO:probinson]


Accumulation of melanosomes in melanocytes


Melanin pigment aggregation in hair shafts


Death in during childhood, defined here as between the ages of 2 and 10 years. [HPO:probinson]


Diffuse reticular or finely nodular infiltrations


Neurogenic muscle atrophy, especially in the lower limbs


A congenital abnormality characterized by the presence of two abnormally small eye globes.


Degeneration of spinal cord anterior horn cells

Spinal cord anterior horn cell degeneration

Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord


Underdevelopment of the ventral portion of the pons. [HPO:probinson]


Neck flexion weakness
Neck flexor muscle weakness

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). [HPO:curators]


Nocturnal under breathing
Hypoventilation during sleep
Nocturnal slow breathing
Nocturnal hypopnea

An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide. [PMID:20308760]


Sphincter disturbances
Sphincter disturbance

Abnormal function of a sphincter of the urinary bladder. [HPO:probinson]


Big sella turcica
Enlarged sella turcica
Hyperplasia of sella turcica
Prominent sella turcica

An abnormal enlargement of the sella turcica. [HPO:probinson]


Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). [HPO:curators]


Increased variation in muscle fibre size

Increased variability in muscle fibre diameter

Increased variability in muscle fibre size

Increased variation in muscle fiber size

Increased variability in muscle fiber size

Increased variability in muscle fiber diameter

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. [HPO:curators]


Progressive loss of previously present language abilities. [HPO:probinson]


Atrophic and degenerative changes in the spinal cord

Atrophy/Degeneration involving the spinal cord


Impaired vestibular function
Vestibular function defect
Interictal vestibular dysfunction

An abnormality of the functioning of the vestibular apparatus. [HPO:probinson]


A type of gait ataxia displaying progression of clinical severity. [HPO:probinson]


Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. [PMID:6443573]


A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. [PMID:25613349]


Inflammation of the liver due to infection with enterovirus. [PMID:15056237]


Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma


Frequent pyogenic infections
Frequent bacterial infections
Bacterial infections, recurrent
Recurrent major bacterial infections
Recurrent pyogenic infections

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. [HPO:probinson]


The reemergence of a fungal infection after a period of remission.


Absence of bactericidal oxidative respiratory burst in phagocytes

An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. [GO:0045728]


Deficiency or absence of cytochrome b(-245)


Small pointed chin
Pointy chin
Pointed chin
Witch's chin
Pointed mention region

A marked tapering of the lower face to the chin. [PMID:19125436]


Dilation of foramen magnum
Big foramen magnum
Enlarged foramen magnum
Wide foramen magnum

An abnormal increase in the size of the foramen magnum. [HPO:curators]


Deep antegonial notch of mandible
Large antegonial notch of mandible


Anterior mislocalization of the dens of the axis. [HPO:probinson]


Increased density of long bone diaphyses


Clitoral hypoplasia
Underdeveloped clit
Small clitoris

Developmental hypoplasia of the clitoris. [HPO:probinson]


Developmental defect resulting in congenital absence of the middle portion of the clavicle. [HPO:probinson]


Underdeveloped middle portion of the collarbone

Underdevelopment of the middle portion of the clavicle. [HPO:probinson]


Notched nasal alae
Cleft nasal alae
Cleft ala nasi
Alar clefts
Cleft nostril

The presence of a notch in the margin of the ala nasi. [HPO:probinson, PMID:19152422]


Short finger
Hypoplastic/small fingers
Hypoplastic digits

Abnormally short finger associated with developmental hypoplasia. [HPO:probinson]


Absent fingernail
Aplasia of the fingernail
Anonychia of fingernails

Absence of a fingernail. [HPO:probinson]


Anonychia of toenails
Absent toenail
Absent toenails (anonychia)
Absent toenails

Congenital absence of the toenail. [HPO:probinson]


An abnormal distribution of eyebrow hair growth in the medial direction. [HPO:probinson]


Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. [HPO:probinson]


Curved linear dimple below the lower lip


Fleshy earlobe
Large earlobe
prominent ear lobules
Fleshy earlobes
Prominent ear lobes

Increased volume of the earlobe, that is, abnormally prominent ear lobules. [HPO:probinson, PMID:19152421]


Finger joint hyperextensibility
Hyperextensible finger
Hyperextensible digits
Hyperextensible fingers

The ability of the finger joints to move beyond their normal range of motion. [HPO:curators]


Subjective impression of increased softness upon palpation of the skin. [HPO:probinson]


Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. [HPO:probinson]


Wrinkles around the eyes
Excess periorbital skin wrinkling
Periorbital wrinkling
Periorbital rhytids


Idiopathic cutaneous hyperchromia at the orbital region

Increased pigmentation of the skin in the region surrounding the orbit of the eye. [HPO:probinson]


Aplasia/Hypoplastia of the eccrine sweat glands

Absence or developmental hypoplasia of the eccrine sweat glands. [HPO:probinson]


Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. [HPO:probinson, PMID:13316552]


Episodes of fever for which no infectious cause can be identified. [HPO:curators]


Immune dysregulation
Unregulated immune response

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. [PMID:26233425]


A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. [HPO:probinson]


Reduced ability to extend (straighten) the knee joint. []


An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). [HPO:curators]


Flat vertebral bodies
Flattened vertebrae
Flattened vertebral bodies

A flattened vertebral body shape with reduced distance between the vertebral endplates. [HPO:probinson]


Small to absent calf bone
Rudimentary to absent fibulae
Small to absent fibula

Absent or nearly absent fibula. (Does not include aplastic) []


Displacement of the 2nd finger towards the radial side. [HPO:curators]


The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. [HPO:probinson]


Underdevelopment of the breast on one side only. [HPO:probinson]


Hypoplasia of tip of nose
Underdevelopment of nasal tip
Small nasal tip
Decreased size of tip of nose
Underdevelopment of tip of nose
Deficient nasal tip
Small tip of nose
Decreased size of nasal tip


Asymmetric leg shortening
Asymmetric lower limb shortness

Shortening of a leg affecting only one side. [HPO:curators]


Presence of a cutaneous membrane (flap) in the armpit. []


Punched out lesions in the pigmented layer of the retina. [HPO:probinson]


Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). [HPO:probinson]


Thickening of the alae nasi
Ala nasi, thick

Increase in bulk of the ala nasi. [PMID:19152422]


Thick septum of nose
Wide septum of nose
Thick nasal septum
Broad septum of nose
Broad nasal septum
Wide nasal septum

Abnormally increased thickness of the nasal septum. [HPO:curators]


Generalised spacing of teeth
Widely-spaced teeth
Generalized spacing of teeth
Generalized dental spacing
Wide-spaced teeth
Generalised dental spacing
Widely spaced teeth
Multiple diastemata

Increased spaces (diastemata) between most of the teeth in the same dental arch. [PMID:19125428]


Lumbar gibbus deformity
Rounded lower back

Over curvature of the lumbar region. [HPO:probinson]


Increased joint mobility
Joint hypermobility
Joint hyperextensibility
Hyperextensible joints
Extensible joints
Flexible joints
Increased mobility of joints

The ability of a joint to move beyond its normal range of motion. [HPO:probinson]


Rounding and broadening of the tufts of the distal phalanges. [HPO:probinson]


When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. [HPO:probinson, PMID:19125433]


Point-shaped (punctate) calcifications affecting the carpal bones. [HPO:curators]


Punctate tarsal calcification
Punctate calcifications of tarsals

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. [HPO:probinson]


Short septum of nose
Short nasal septum
Decreased length of nasal septum
Decreased length of septum of nose

Reduced superior to inferior length of the nasal septum. [HPO:probinson]


Second finger ulnar deviation
Medially deviated index finger
Ulnar deviation of index fingers
Ulnar angulation of the index finger

Displacement of the 2nd (index) finger towards the ulnar side. [HPO:curators]


Increased width of a non-thumb digit of the hand. [PMID:19125433]


Recurrent infections in infancy and early childhood

Recurrent infections at an early age with improvement in later childhood. [HPO:probinson]


An intermittent (discontinuous) form of lactic acidemia. [HPO:probinson]


Hypoplastic prostate
Underdeveloped prostate


An abnormal narrowing of the cervical spinal canal. [HPO:probinson]


Episodic difficulty breathing
respiratory distress, episodic


Episodic under breathing
Episodic slow breathing


Heavy brow of the face
Heavy supraorbital ridge


Prominent central ridge on roof of the mouth

Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. [HPO:curators]


Exaggerated median lingual furrow
Deep median lingual furrow
Deep median lingual groove
Deep central lingual furrow
Deep central tongue furrow
Deep median tongue groove
Deep central tongue groove
Deep central lingual groove
Deep median tongue furrow

Increased depth of the median tongue furrow. [HPO:probinson]


Decreased width of upper lateral incisor

Decreased size of the maxillary permanent incisor. [HPO:ibailleulforestier]


Hypotonia, neonatal, generalised
Generalised low muscle tone in neonate
Generalised neonatal hypotonia
Generalized low muscle tone in neonate
Hypotonia, neonatal, generalized

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. [HPO:probinson]


Hypoplastic frontal bones
Decreased size of bone of forehead
Small bone of forehead
Underdevelopment of bone of forehead

Underdevelopment of the frontal bone. [HPO:probinson]


Presence of myoglobin in the urine following exercise. [HPO:probinson]


Decreased renal tubular phosphate reabsorption

Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate

High urine phosphate in the presence of hypophosphatemia. [HPO:probinson]


Decreased plasma renin activity
Low plasma renin activity
Suppressed plasma renin activity

An decreased level of renin in the blood. [HPO:probinson]


Decreased size of frontal region of face

The presence of a forehead that is abnormally small. [HPO:curators]


Low facial muscle tone
Reduced facial muscle tone
Decreased facial muscle tone

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]


The presence of an abnormally prominent antihelix. [HPO:probinson]


Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. [HPO:probinson]


Disorganisation of the anterior cerebellar vermis

Disorganization of the anterior cerebellar vermis


Cupped ear
Simple, cup-shaped ears
Cupped ears

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). [HPO:probinson, PMID:19162421, PMID:22073081]


Small chest on one side
Underdeveloped chest on one side


An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. [HPO:probinson]


A type of perisylvian polymicrogyria that affects both sides of the brain. [COST:neuromig, PMID:20301504]


Rounded and heavy facial features
Coarse facial features
Coarse facies
Coarse facial appearance

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. [PMID:19125436]


Variability of spacing between teeth
Irregular dental spacing
Variability of dental spacing
Irregularly spaced teeth

Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. [HPO:ibailleulforestier]


A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [HPO:curators]


Boxer-like facial appearance
Pugilistic facial appearance

Coarse facial features reminiscent of those of a boxer. [HPO:probinson]


Severe hypertrophy (increase in size) of muscle cells. [HPO:curators]


The development of Pes cavus that is progressive with age. [HPO:probinson]


Short-trunk dwarfism, identifiable in infancy

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. [HPO:probinson]


Photically induced tonic-clonic seizure
Photosensitive tonic-clonic seizures
Seizures, tonic-clonic, photosensitive

Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. [HPO:probinson, PMID:28276060]


Intellectual disability, progressive
Progressive mental retardation
Mental retardation, progressive

The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. [HPO:probinson]


Enlarged subarachnoid space
Widened subarachnoid spaces

An increase in size of the anatomic space between the arachnoid membrane and pia mater. [HPO:probinson]


Anteriorly splayed ribs
Anterior cupping of ribs

Wide, concave anterior rib end. [HPO:probinson]


Cone-shaped end part of innermost thighbone

A cone-shaped deformity of the proximal epiphysis of the femur. [HPO:probinson]


Peg-like central prominence of distal tibial metaphyses


Adrenal gland hypoplasia
Underdeveloped adrenal glands
Hypoplastic adrenal glands

Developmental hypoplasia of the adrenal glands. [HPO:probinson]


Hypoglycemic episodes
Recurrent hypoglycemic episodes
Recurrent hypoglycaemia
hypoglycemia, recurrent
Recurrent hypoglycemia
Recurrent low blood sugar levels

Recurrent episodes of decreased concentration of glucose in the blood. [HPO:gcarletti]


An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. [HPO:probinson]


Salt-wasting
Loss of salt in urine
Renal salt-wasting
Salt wasting

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). [Eurenomics:fschaefer]


High urine potassium in the presence of hypokalemia. [HPO:probinson]


Impaired reabsorption of Cl
Impaired reabsorption of Cl-

Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. [PMID:25820368]


Hyperkaliuresis
Increased urinary K
Increased urinary potassium

An increased concentration of potassium(1+) in the urine. [HPO:probinson]


An increased concentration of chloride in the urine. [HPO:probinson]


A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. [COST:neuromig, PMID:21219302]


Gallbladder duplication
Bilobate gallbladder
Double gallbladder

The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. [HPO:probinson, PMID:14571173, PMID:16553121, PMID:21170223]


Thick upper lip
Plump upper lip
Thick upper lip vermilion
Increased volume of upper lip
Full upper lip vermilion
Prominent upper lip
Increased volume of upper lip vermilion
Thick vermilion border of upper lip
Full upper lip
Increased height of upper lip vermilion
Prominent upper lip vermilion

Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). [PMID:19125428]


Small scapulae
Hypoplastic scapulae
Short scapulae
Scapular hypoplasia
Small scapula
Hypoplastic scapula


Disproportionate short-trunked short stature

Disproportionate short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. [HPO:probinson]


Abnormal shape of hypophysial fossa
Abnormal shape of pituitary fossa
Deformity of pituitary fossa
Abnormal shape of sella turcica
Deformity of hypophysial fossa
Malformation of sella turcica
Malformation of pituitary fossa
Malformation of hypophysial fossa


Odontoid hypoplasia
Small odontoid peg
Small odontoid process
Hypoplastic odontoid process

An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


Hypoplastic acetabula
Acetabular hypoplasia


Delayed ossification of the femoral head. [HPO:probinson]


There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. [HPO:probinson]


An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. [HPO:probinson]


Slit-like opening of the exterior auditory meatus

A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. [PMID:12843316]


External ear malformations
Abnormality of the outer ear
Abnormal pinnae
Abnormality of the auricle
Malformed pinnae
External ear malformation
Abnormality of the external ear

A malformation of the auricle of the ear. [HPO:probinson]


An impaired ability of the eye to move in the outward direction (towards the side of the head). [HPO:probinson]


Reduced ability to move the eye in the direction of the nose. [HPO:probinson]


Globe retraction and deviation on adduction


Palpebral fissure narrowing on adduction


Absent long bone of hand
Absent metacarpals
Absent metacarpal

Developmental defect associated with absence of one or more metacarpal bones. [HPO:probinson]


Hypoplastic thenar eminences
Decreased thenar eminence
Thenar muscle hypoplasia
Thenar hypoplasia

Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. [HPO:probinson, PMID:19125433]


Small pec muscle
Underdeveloped pec muscle
Hypoplastic pectoral muscle

Underdevelopment of the pectoral muscle. [HPO:probinson]


Underdevelopment of muscles of the arm. [HPO:curators]


Chronic sinopulmonary infection
Recurrent sinus and lung infections

An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. [HPO:probinson]


Defective T cell activation
Decreased T lymphocyte activation
Decreased T-cell activation
Decreased T-lymphocyte activation
Profound depletion of T4+ lymphocytes

Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. [ISBN:0781735149]


A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of [GOC:mgi_curators, ISBN:0781735149]


Degeneration of lateral corticospinal tracts

Degeneration of the lateral corticospinal tracts

Deterioration of the tissues of the lateral corticospinal tracts. [HPO:probinson]


Unilateral clonic seizures
Unilateral clonic seizure
Hemiclonic seizures
Hemiclonic seizure

A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. []


Muscle hypertrophy affecting the thighs. [HPO:probinson]


Reduced FVC
Decreased forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal inspiration. [PMID:22347750, PMID:24695507]


A partial dislocation of one or more intervertebral joints in the cervical vertebral column. [HPO:probinson]


Reduction in the size or volume of epiphyses. [HPO:probinson]


Coagulation abnormalities
Coagulation abnormality
Abnormal blood coagulation studies

An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. [HPO:probinson]


Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. [HPO:curators]


Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]


Focal proliferation of glial cells in the substantia nigra. [HPO:probinson]


Parkinsonism with favourable response to dopaminergic medication

Parkinsonism with favorable response to dopaminergic medication

Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. []


A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. [HPO:probinson]


Hypoplasia of the middle phalanges of the hand

Disproportionately short middle phalanges

Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. [HPO:probinson]


An abnormal dilatation of the fourth cerebral ventricle. [HPO:probinson]


Morning generalized tonic-clonic seizures

Generalised tonic-clonic seizures on awakening

Generalized tonic-clonic seizures on awakening

Morning generalised tonic-clonic seizures

Bilateral tonic-clonic seizure on awakening

Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). [HPO:probinson, PMID:24395517, PMID:26948972]


Absent scaphoid bone
Missing scaphoid bone

Congenital absence of the scaphoid.. [DDD:jcampbell]


Polymicrogyria, anterior to posterior gradient

A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. [COST:neuromig, PMID:20301504]


Absent/underdeveloped ribs
Absent/small ribs
Hypoplastic or missing ribs


Absence of lymph node germinal centre
Lymphoid germinal centre defect
Lymphoid germinal center defect
Lymph nodes lack germinal centre
Lymph nodes lack germinal center

Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. [HPO:probinson]


Limitation of neck motion
Restricted neck movement
Limited neck mobility


Cervical vertebral bodies with decreased anteroposterior diameter


A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. [PMID:24173273, PMID:7713107]


Progressive brachydactyly of middle and distal phalanges

Short middle and distal phalanges of digits ii through v

Disproportionately short middle and distal phalanges compared to the hand/foot. [HPO:probinson]


An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. [HPO:probinson]


Repeated episodes of sudden-onset and transient lethargy. [HPO:probinson]


Sudden-onset episode of abnormal, involuntary eye movements. [HPO:probinson]


A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. [HPO:probinson]


Distal sensory impairment in lower limbs

Distal sensory impairment of the lower extremities

Distal sensory loss, upper and lower limbs

An abnormal reduction in sensation in the distal portions of the extremities. [HPO:probinson]


Impaired non-word repetition
Deficit in non-word repetition

Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory [PMID:19646677]


Shoulder-girdle muscle atrophy
Shoulder girdle atrophy
Shoulder girdle muscle wasting

Amyotrophy affecting the muscles of the shoulder girdle. [HPO:curators]


Generalised aminoaciduria
Generalized nonspecific aminoaciduria
Generalised nonspecific aminoaciduria

An increased concentration of all types of amino acid in the urine. [HPO:probinson]


A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities]


A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [HPO:curators]


Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. [HPO:probinson]


Anomalous branches of internal carotid artery


'Onion bulb' formations
Onion bulb formations

Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. [HPO:probinson]


Reduced side to side width of the pelvis. [HPO:probinson]


Increased length of the ulna. [HPO:probinson]


Long calf bone
Long fibula
Disproportionately long fibula

Disproportionately long fibulae. [HPO:probinson]


Female external genitalia in individual with 46,XY karyotype

The presence of female external genitalia in a person with a male karyotype. [HPO:probinson]


The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. [HPO:skoehler, PMID:23730041, PMID:29768628]


A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Birth weight > 90th percentile
Large for gestational age
Birthweight > 90th percentile
Macrosomia

A fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile.


The presence of xanthine-containing calculi (stones) in the kidneys. [HPO:probinson]


A partial dislocation of the atlantoaxial joints. [HPO:curators]


Atypical or prolonged liver inflammation


High nonceruloplasmin-bound serum copper

An increased concentration of non ceruloplasmin bound copper in the blood. [HPO:probinson]


Whistling appearance
Whistling facial appearance

An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. [HPO:probinson, PMID:856233]


Limited mandibular opening
Limited mouth opening


Arteriosclerosis occurring at an age that is younger than usual. [HPO:probinson]


Short 4th long bone of foot
Short fourth metatarsals
Short fourth metatarsus
Bilateral fourth metatarsal shortening

Short fourth metatarsal bone. [HPO:probinson]


Underdevelopment of the pons. [HPO:probinson]


Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. [HPO:probinson]


Decreased plasma methionine
Decreased serum methionine

A decreased concentration of methionine in the blood. [HPO:gcarletti]


Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. [HPO:probinson]


Decreased methylmalonyl CoA mutase activity

Decreased methylmalonyl-CoA mutase activity

An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. [HPO:probinson]


Methionine synthase activity decreased
Decreased methionine synthase activity
Reduced methionine synthase activity
Methionine synthase deficiency

A reduction in methionine synthase activity. [HPO:probins]

Decreased activity of methionine synthase


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]


Reduced functioning of the vestibular apparatus. [HPO:probinson]


A herniation of meninges through a congenital bone defect in the skull in the occipital region. [HPO:probinson]


Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. [eom:2028381d5c61842a, PMID:19152421]


Aplastic/hypoplastic phalanges of the hand

Aplasia/Hypoplasia of the phalanges of the hand

Small or missing phalangeal bones of the fingers of the hand. [HPO:probinson]


Absent/small ankle bone
Absent/underdeveloped ankle bone
Aplastic/hypoplastic tarsals

Absence or underdevelopment of the tarsal bones. [HPO:curators]


A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). [HPO:probinson, PMID:19125433]


Increased concentration of pyruvic acid in the urine. [HPO:probinson]


Increased concentration of 4-hydroxyphenylacetic acid in the urine. [HPO:probinson]


Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. [HPO:probinson]


Elevated urinary delta-aminolevulinic acid

An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. [HPO:probinson]


Distal muscle atrophy, upper and lower limbs

Distal amyotrophy, especially of the hands and feet

Muscular atrophy affecting muscles in the distal portions of the extremities. [HPO:curators]


Increased anterioposterior diameter of chest

Increased anterioposterior diameter of thorax


Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. [HPO:probinson]


Prominent superficial vasculature
Prominent superficial blood vessels


Thyroid defect in oxidation and organification of iodide


Missing radius bone on both sides associated with congenital failure of development. [HPO:probinson]


Naevus flammeus localised in the skin of the forehead. [HPO:sdoelken]


Elevated circulating threonine
High blood threonine levels

An increased concentration of threonine in the blood. [HPO:probinson]


Lack of external genitalia in a male or female individual. [HPO:probinson]


Diaphragm issues
Abnormality of the diaphragm
Diaphragmatic defect

Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. [HPO:probinson]


Failure of eruption of multiple adult teeth

Failure of eruption of multiple permanent teeth


Decreased size of alveolar process of jaw

Underdevelopment of alveolar process of jaw

Underdevelopment of the alveolar process (also known as alveolar bone). [HPO:probinson]


Decreased size of zygomaticomaxillary bone complex

Hypoplasia of zygomaticomaxillary complex

Underdevelopment of zygomaticomaxillary bone complex

Deficiency of zygomaticomaxillary bone complex

Hypoplasia of the maxillozygomatic complex. [HPO:probinson]


Cellular accumulation of GM2 gangliosides. [PMID:30524313]


Onset in infancy
Onset in first year of life
Infantile onset

Onset of signs or symptoms of disease between 28 days to one year of life. [HPO:probinson]


A type of dystonia that affects all or most of the body. [HPO:probinson]


Increased concentration of SO3(2-), i.e., sulfite, in the urine. [HPO:probinson]


Decreased urinary sulphate
Decreased urinary sulfate

Decreased concentration of sulfate in the urine. [HPO:probinson]


Increased urinary excretion of gamma-aminobutyric acid (GABA)

Increased level of gamma-aminobutyric acid in urine

Elevated concentration of gamma-aminobutyric acid in the urine. [PMID:11121859]


Decreased upper labial height
Decreased height of upper lip
Decreased upper labial length
Decreased vertical length of upper lip
Short upper lip
Shortening of upper lip
Vertical deficiency of upper lip

Decreased width of the upper lip. [HPO:probinson]


Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. [HPO:probinson, PMID:5817839]


A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. [HPO:probinson]


Broadening of femoral neck
Wide femoral neck
Wide neck of thigh bone
Widened femoral necks

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]


Short metatarsal bone
Hypoplastic metatarsals
Short metatarsal bones
Hypoplasia of the metatarsal bones
Shortened metatarsals
Short long bone of foot
Short metatarsals

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. [HPO:probinson, PMID:19125433]


A face with a rounded and slightly elongated outline. [HPO:probinson]


Small iliac bodies
Hypoplastic iliac bodies

Underdevelopment of the body of ilium. [HPO:probinson]


Widened long bone metaphyses
Broad wide portion of long bone
Wide metaphyses
Widened metaphyses

A radiologic finding characterized by an increased width of the metaphyseal regions. It is seen in rickets.


A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. []


Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. [HPO:probinson, PMID:10489169]


Underdevelopment of the iliac bones. [PMID:29019756]


An abnormally flat form of the proximal epiphysis of the radius. [HPO:curators]


Macrocephaly, relative
Disproportionately large head
Relatively large head

Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered.


Decreasing lumbar vertebrae interpediculate distance

Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. [HPO:probinson]


Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). [PMID:18203204]


Wide forehead
Increased bitemporal width
Intertemporal widening
Increased bitemporal dimension
Bitemporal widening
Broad forehead
Increased width of the forehead

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. [PMID:19125436]


Deterioration or loss of the tissues of the cochlea. [HPO:probinson]


Premature greying of body hair
Premature graying of body hair


Decreased vibratory sense in lower limbs

Distal sensory loss, especially vibratory sense

Impaired vibration sensation in the lower limbs

Diminished vibratory sensation in the legs

Decreased vibratory sense in the lower limbs

Decreased vibratory sense in the lower extremities

Distal vibratory impairment of the lower limbs

A decrease in the ability to perceive vibration in the legs. [HPO:curators]


Loss of Purkinje cells in the cerebellar vermis


Decreased sensory nerve conduction velocities

Decreased sensory nerve conduction velocity

Reduced speed of conduction of the action potential along a sensory nerve. [HPO:probinson]


Hypermyelinated retinal nerve fibres
Retinal striation


Swan neck-like deformities of the fingers

A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. [HPO:curators]


Hypoplasia of the frontal lobes
Underdeveloped frontal lobe
Frontal lobe hypoplasia

Underdevelopment of the frontal lobe of the cerebrum. [HPO:sdoelken]


Elevated levels of cholesta-5,7-dien-3beta-ol

Elevated 7-dehydrocholesterol levels. [HPO:probinson]


A severe degree of photosensitivity of the skin. [HPO:curators]


Lack of transparency of the corneal epithelium. [DDD:gblack]


Excessive hairiness over body
Generalised hirsutism

Abnormally increased hair growth over much of the entire body. [HPO:curators]


Flaxen hair color
Fair hair
Blond hair
Flaxen hair colour
Light coloured hair
Sandy hair colour
Fair hair colour
Towhead (hair color)
Straw colored hair
Sandy hair color
Straw coloured hair
Fair hair color

A human hair color characterized by low levels of eumelanin.


Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. [DDD:jclayton-smith]


Reduced B cell function
Abnormality of B cell physiology

An abnormality of the physiological functioning of B cells. [HPO:probinson]


Facial palsy caused by overgrowth of cranial bones

Facial palsy secondary to hypertrophy of cranial bones

Facial palsy caused by excessive growth of facial bones

Facial palsy caused by enlargement of cranial bones

Facial palsy secondary to cranial hyperostosis

Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. [HPO:probinson]


Increased density of the bony tissue of the scapula. [HPO:probinson]


Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [HPO:probinson]


Increased density of the compact bone of long bone. [HPO:probinson]


The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. [PMID:3799723]


Advanced carpal ossification
Accelerated carpal bone maturation
Advanced carpal bone age
Precociously ossified carpal bones

Ossification of carpal bones at an abnormally early age. [HPO:probinson]


Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]


An abnormally increased width of the cranial fontanelles and sutures. [HPO:probinson]


Absent/underdeveloped pubic bones
Hypoplastic/aplastic pubic bones
Absent/small pubic bones

Absence or underdevelopment of the pubic bone. [HPO:probinson]


An abnormal increase in the bone density of the long bones. [HPO:curators]


Broad outermost wide portion of thighbone

Increased width of the distal part of the shaft (metaphysis) of the femur. [HPO:probinson]


First metacarpals hypoplastic
Short first metacarpals
Short first metacarpal
Hypoplastic 1st metacarpal
Shortened 1st long bone of hand
First metacarpal hypoplasia

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. [HPO:probinson]


Premature separation of centromeric heterochromatin


Abnormal belly button
Abnormal navel
Abnormal umbilicus

An abnormality of the structure or appearance of the umbilicus. [HPO:probinson]


Broad palpebral fissure
Wide opening between the eyelids
Wide palpebral fissures
Long opening between the eyelids
Broad opening between the eyelids
Wide palpebral fissure
Long palpebral fissures

Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. [PMID:19125427]


Triangular shaped oral aperture
Triangular shaped mouth
Triangular mouth

The presence of a triangular form of the mouth. [HPO:probinson]


Duplication of the outermost bone of hand

Partial/complete duplication of the distal phalanges of the hand

Duplication of the distal phalanx of hand

This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. [HPO:sdoelken]


Notch of lower alveolar ridge
Cleft of lower gum ridge
Notch of lower gum ridge
Notch of mandibular alveolar ridge


Abnormal aryepiglottic folds
Abnormality of the aryepiglottic fold

An abnormality of the aryepiglottic fold. [HPO:probinson]


Hypertrophic labia minora
Labia minora hypertrophy

Increase in size of the folds of skin between the outer labia. [HPO:probinson]


Absent earlobe
Lobeless ears
Absent ear lobes
Earlobe, absent

Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. [HPO:probinson, PMID:19152421]


Increased breadth of nasal bridge
Nasal bridge broad
Broad nasal root
Wide bridge of nose
Nasal bridge, wide
Increased width of bridge of nose
Increased breadth of bridge of nose
Increased width of nasal bridge
Widened nasal bridge
Wide nasal bridge
Broad nasal bridge

Increased breadth of the nasal bridge (and with it, the nasal root). [HPO:probinson, PMID:19152422]


Phocomelia involving all four extremities. [UToronto:chum]


Ridged fingernail
Ridged fingernails
Longitudinally grooved fingernails

Longitudinal, linear prominences in the fingernail plate. [HPO:probinson, PMID:19125433]


A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. [ORCID:0000-0003-0986-4123, PMID:28981474]


Underdevelopment of the macula lutea. [HPO:probinson]


Complete inability of T cells to perform their functions in cell-mediated immunity. []


Increased red cell fragility
Increased erythrocyte osmotic fragility


An increased concentration of pyruvate in the blood. [HPO:gcarletti]


An abnormality of fetal movement. [HPO:probinson]


Persistent, open anterior fontanel
Front fontanelle stays open
Anterior fontanelle open in adults

The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. [HPO:probinson]


Delayed eruption of milk teeth
Delayed eruption of baby teeth
Late eruption of milk teeth
Late eruption of baby teeth
Delayed eruption of deciduous teeth
Delayed primary teeth eruption
Late eruption of primary teeth

Delayed tooth eruption affecting the primary dentition. [HPO:ibailleulforestier]


Delayed eruption of adult teeth
Delayed eruption of secondary dentition
Delayed eruption of secondary teeth
Delayed permanent dentition
Delayed eruption of permanent teeth

Delayed tooth eruption affecting the secondary dentition. [HPO:ibailleulforestier]


Osteolytic defects of the outermost finger bone of the hand

Osteolytic defects of the distal phalanges of the hand


Progressive pulmonary function impairment


Pterygia affecting the neck. [HPO:curators]


Anterior schisis (cleft or cleavage) of vertebral bodies. [HPO:probinson]


Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. [PMID:29040156]


Wide nasal base
Wide base of nose
Broad base of nose
Broad nasal base
Increased width of nasal base
Increased width of base of nose

Increased distance between the attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]


A diffuse form of hepatic steatosis. [HPO:probinson]


Underdevelopment of the helix that either affects the entire helix, or is localized. [PMID:19152421]


Loss of corticomedullary differentiation

Absent renal corticomedullary differentiation

Absence of renal corticomedullary differentiation

A lack of differentiation between renal cortex and medulla on diagnostic imaging. [HPO:probinson]


Fibrosis surrounding a portal tract that may extend to the adjacent liver parenchyma. It may be associated with periportal inflammation, hepatocyte necrosis, chronic active hepatitis and chronic cholestasis.


Pale pigmentation
Generalised hypopigmentation
Generalized hypopigmentation


Short stature, disproportionate short-limb

Short stature, disproportionate short limb

Disproportionate short-limb short stature

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [HPO:probinson]


Failure of development of maxillary lateral incisor

Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. [HPO:ibailleulforestier]


Square pelvis bone
Squared off pelvis
Square pelvis

An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. [HPO:probinson]


Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion


An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). [HPO:curators]


Vitamin B12 deficiency caused by intestinal malabsorption


Bone marrow biopsy shows megaloblastic erythroid hyperplasia


Absence of the proximal interphalangeal flexion creases of the fingers. [HPO:probinson]


Clinodactyly of the little finger
Fifth finger clinodactyly
Permanent curving of the pinkie finger
Clinodactyly of fifth digit

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). [HPO:curators, PMID:16252026]


Undetectable VEP
Non-detectable VEP
Absence of visual evoked potentials


Irregular ossification at anterior rib ends


marked metaphyseal flaring of long bones

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. [HPO:probinson, PMID:12853662]


Osteolytic defects of the proximal phalanges of the hand


Short-limb dwarfism identifiable at birth

Short limb dwarfism recognizable at birth

Short-limbed dwarfism identifiable at birth

Short limb dwarfism recognisable at birth

Short-limb dwarfism identifiable neonatally

A type of short-limbed dwarfism that is manifest beginning in the neonatal period. [HPO:probinson]


Bowing of limbs due to multiple fractures

Curvature of the shafts of the long bones due to multiple fractures. [HPO:curators]


A polar cataract that affects the posterior pole of the lens. [HPO:probinson]


Posterior scalloping of vertebral bodies

An excessive concavity of the posterior surface of one or more vertebral bodies. [HPO:probinson]


Midline cleft lip
Central cleft upper lip

A type of cleft lip presenting as a midline (median) gap in the upper lip. [HPO:probinson]


Short tibiae
Shortening of the shankbone
Hypoplastic tibia
Short shinbone
Shortening of the shinbone
Shortening of the tibia
Short skankbone
Hypoplasia of the tibia

Underdevelopment (reduced size) of the tibia. [HPO:probinson]


Moderately increased serum creatine kinase


The presence of a bifid uterus. [HPO:probinson]


Fifth finger single interphalangeal crease

Single interphalangeal crease of fifth finger

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. [HPO:probinson]


Developmental defect characterized by a small and malformed corpus callosum. []


Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. []


A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike macrovesicular steatosis, the fat accumulation occurs around the nucleus of the hepatocytes, without displacing it.


Postural hypotension with compensatory tachycardia


Rectilinear intracellular accumulation of autofluorescent lipopigment storage material

An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. [HPO:probinson]


Microcephaly, postnatal, progressive
Microcephaly, progressive
Progressively abnormally small cranium
Progressively abnormally small skull

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. [HPO:probinson]


Loss of brain cells
Neuronal loss in CNS
Neuronal loss


Yellow subcutaneous tissue covered by thin, scaly skin


Generalized tissue edema
Generalized edema
Generalised oedema

Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. [HPO:curators]


Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.


Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. [HPO:probinson]


Abnormal shape of brainstem
Abnormality of brainstem morphology
Abnormality of the brainstem

An anomaly of the brainstem. [HPO:probinson]


Cupid's bow, accentuated
Exaggerated cupid's bow
Cupid bow upper lip
Prominent cupid-bow of upper lip
Cupid-bow shaped upper lip

More pronounced paramedian peaks and median notch of the Cupid's bow. [PMID:19125428]


Broad outermost finger bone
Broad distal phalanges
Broad, square ends of distal phalanges
Spatulate terminal phalanges
Broad terminal phalanges
Broad distal phalanx
Broad distal phalanges of the hand

Abnormally wide (broad) distal phalanx of finger. [HPO:sdoelken]


Small 3rd metacarpals
Shortened 3rd long bone of hand
Hypoplastic 3rd metacarpal
Short third metacarpals

Short third metacarpal bone. [HPO:probinson]


An abnormal flattening of an epiphysis of femur. [HPO:probinson]


An abnormal anterior curvature of a long bone. [HPO:probinson]


Muscle hypertrophy of the lower extremities

Muscle hypertrophy primarily affecting the legs. [HPO:curators]


An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.


Recurrent cerebellar and extrapyramidal encephalopathy

Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. [HPO:probinson]


Reduced leukocyte ALP
Low leukocyte alkaline phosphatase

Decreased alkaline phosphatase measured within leukocytes. [HPO:probinson]


Symmetrical, proximal limb muscle atrophy

Amyotrophy (muscular atrophy) affecting the proximal musculature. [HPO:probinson]


Decreased or absent ankle reflexes
Decreased/absent ankle reflexes


Muscle pain on exercise
Muscle pain, exercise-induced
Muscle pain with exercise
Exercise-induced muscle pain

The occurrence of an unusually high amount of muscle pain following exercise. [HPO:probinson]


Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. [HPO:curators]


Lack of stability of a distal joint (e.g., finger). []


Increased laxity of wrists
Increased wrist mobility

The ability of the wrist joints to move beyond their normal range of motion. [HPO:curators]


Central cleft palate
Midline cleft palate

Cleft palate of the midline of the palate. [HPO:probinson]


Presence of a cutaneous lipoma on the forehead. [HPO:probinson]


Focal epithelial hyperplasia of oral mucosa

The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. [PMID:23204755]

Focal epithelial hyperplasia of the lining of mouth


Columella, broad
Increased width of columella
Columella, wide
Fullness of columella

Increased width of the columella. [PMID:19152422]


A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]


Absence of the anterior commissure. [UToronto:bgallinger]


Abnormally increased hair growth in the lumbosacral region. [HPO:curators]


A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes. [HPO:sdoelken, PMID:19125433]


Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. [HPO:probinson]


Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. [HPO:probinson]


Progressive cervical vertebral spine fusion


Reduced size of cervical vertebrae. [HPO:probinson]


Abnormality of the renal collecting system

Abnormal renal collecting system morphology

An abnormality of the renal collecting system. [HPO:probinson]


Absent/underdeveloped thighbone
Hypoplastic to absent femora
Absent/small thighbone
Hypoplastic/aplastic femora

Absence or underdevelopment of the femur. [HPO:probinson]


A limitation of the range of movement of the shoulder joint. [HPO:probinson]


Excessive, increased hair growth located in the facial region. []


Shoulder bone exostoes
Scapular exostoses

The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. [HPO:probinson]


The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. [HPO:probinson]


A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. [HPO:probinson]


Mottled pigmentation of the trunk and proximal extremities


Discrete 2 to 5-mm hyper- and hypopigmented macules


Skin fragility with non-scarring blistering


Narrowing of bone marrow canal
Medullary cavity obliteration
Narrowing of bone medullary canal
Narrowing of the marrow cavity

A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. [PMID:15894597]


The presence of an adenoma of the pancreas with origin in a pancreatic B cell. [HPO:probinson]


A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. [HPO:sdoelken]


Sclerotic skull base
Sclerosis of cranial base
Hyperossification of skull base
Dense bone of skull base
Marked sclerosis of skull base
Hyperostosis of skull base
Sclerosis of the skull base

Increased bone density of the skull base without significant changes in bony contour. [HPO:probinson]


The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. [HPO:probinson]


Hyperplasia of the pancreas. [HPO:probinson]


EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). [HPO:jalbers]


A reduced ability to heal cutaneous wounds. [HPO:probinson]


Aplasia/Hypoplasia of the earlobes
Absent/small ear lobes

Absence or underdevelopment of the ear lobes. [HPO:curators]


Cutis gyrata of palms and soles. [HPO:probinson]


Premature delivery because of cervical insufficiency or membrane fragility


Increased mobility of outermost hinge joint

Hypermobility of distal interphalangeal joints


Cigarette paper scarring
'cigarette paper scarring'
Cigarette-paper scars

Thin (atrophic) and wide scars. [HPO:probinson]


Premature birth following premature rupture of foetal membranes

Premature birth following premature rupture of fetal membranes


Decreased transverse dimension of maxilla


Midline cleft of maxillary alveolar process

Midline notch of maxillary alveolar ridge

Midline notch of maxillary alveolar process


Duplicated first metatarsals
Duplicated 1st long bone of foot

A developmental defect consisting in the duplication of the first metatarsal bone. [HPO:probinson]


Small, cone shaped teeth
Conical microdontia


Progressive loss of hair. [HPO:probinson]


Transverse earlobe creases
Earlobe crease

Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. [PMID:19152421]


Choreoathetosis, intermittent
Choreoathetosis, episodic

Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. [HPO:probinson]


Increased pigmentation of the skin with a netlike (reticular) pattern. [HPO:probinson]


Partial dislocation of the ulna in the dorsal direction. [HPO:curators]


Reticulate pigmentation of oral mucous membrane

A net-like pattern of increased pigmentation of the oral cavity. [HPO:probinson]


Periapical radiolucency
Periapical lesion
Periapical radiolucencies
Dark spot around tooth root on x-ray

Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). [HPO:ibailleulforestier]


Nonarteritic anterior ischaemic optic neuropathy

An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. [HPO:probinson, PMID:17698200]


The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. [HPO:probinson]


Increased size of the ridge of tissue that extends along the midline of the scrotum. [HPO:probinson]


Preauricular skin sulcus
Skin groove in front of the ear
Preauricular skin furrows
Skin sulcus in front of the ear
Preauricular skin groove

A groove of the skin immediately in front of the ear. [HPO:probinson]


Nuclear pulverulent cataract
Pulverulent nuclear cataract
Central pulverulent cataract
Coppock-like cataract

A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. [HPO:probinson, PMID:10634616, PMID:14059288]


Abnormality of cervical vertebra
Abnormality of the cervical vertebrae
Disorder of cervical vertebra
Cervical vertebral abnormalities
Abnormal cervical spine
Cervical spine abnormalities
Cervical vertebral anomalies

Any abnormality of the cervical vertebral column. [HPO:probinson]


Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). [HPO:probinson]


Abnormal dental position
Tooth malposition
Malpositioned teeth
Malaligned teeth
Abnormal teeth spacing
Crooked teeth
Abnormality of alignment of teeth
Teeth, malposition
Misalignment of teeth
Malposition of teeth

Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. [HPO:ibailleulforestier]


Underdeveloped male genitalia
Hypoplastic male genitalia
Small male external genitalia

Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). [HPO:probinson]


Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. []


A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [DDD:gblack, PMID:15069441]


Slow decrease in sharpness of vision
Subacute deterioration of visual acuity


Numerous multiple fractures present at birth

Numerous multiple fractures that are present at birth

The presence of bone fractures in the prenatal period that are diagnosed at birth or before. [HPO:curators]


Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. [PMID:27195030]


Recurrent skin infections
Skin infections, recurrent

Infections of the skin that happen multiple times. [HPO:curators]


A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. [HPO:probinson]


Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [HPO:probinson]


A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. [HPO:probinson]


Flat facial shape
Flat face
Flat facies
Flat facial profile

Absence of concavity or convexity of the face when viewed in profile. [PMID:19125436]


Hypoplasia of midface
Midface deficiency
Decreased size of midface
Retrusive midface
Midface hypoplasia
Midface, flat
Midface retrusion
Underdevelopment of midface

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. [DDD:jclayton-smith, PMID:19125436]