Outward turned lower lip
Everted lower lip
Eclabium of lower lip
Everted prominent lower lip
Everted lower lip vermilion

An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. [PMID:19125428]


The presence of an increased mass of red blood cells in the circulation. [HPO:probinson]


Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. [HPO:probinson]


Nystagmus, horizontal gaze-evoked
Nystagmus, horizontal, gaze-evoked

Horizontal nystagmus made apparent by looking to the right or to the left. [HPO:curators]


Spasticity of one or more muscles innervated by the facial nerve. []


Difficulty in tongue movements
Difficulty in lingual movements


Pointed frontal hairline
Pointed hairline at front of head
V-shaped frontal hairline
Hairline peak
Hairline point
Widow's peak

Frontal hairline with bilateral arcs to a low point in the midline of the forehead. [PMID:19125436]


Hypertrichosis of the eyebrows
Hypertrichosis of the eyebrow
Heavy eyebrows
Prominent eyebrows
Bushy eyebrows
Thick eyebrows
Thick eyebrow
Dense eyebrow

Increased density/number and/or increased diameter of eyebrow hairs. [PMID:19125427]


Symptoms begin in adulthood
Onset in early adulthood
Onset in adulthood

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [HPO:probinson]


Dilated Virchow-Robin spaces
Dilation of Virchow-Robin spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [ORCID:0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639]


Broad neck
Increased width of neck
Thick neck
Wide neck

Increased side-to-side width of the neck. [HPO:probinson]


Protruding occiput
Prominent back of the skull
Prominent posterior cranium
Prominent posterior skull

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


Eyelash trichomegaly
Unusually long eyelashes
Ciliary trichomegaly
Long eyelashes
Increased length of eyelashes

Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). [PMID:19125427, PMID:26288407]


Low muscle tone in trunk
Truncal hypotonia
Muscular hypotonia of the trunk

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [HPO:curators]


Atrophy affecting the pons and the cerebellum. [HPO:probinson]


A decrease in the ability to perceive vibration in the distal portions of the limbs. [HPO:probinson]


An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. [HPO:probinson]


Rimmed vacuoles
'rimmed' vacuoles on biopsy

Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. [HPO:probinson]


Deposits immunoreactive to beta-amyloid protein


Generalised hypotonia due to defect at the neuromuscular junction

Generalized hypotonia due to defect at the neuromuscular junction


Small miniature endplate currents
Small miniature endplate potentials
Decreased MEPP

An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. [HPO:probinson]


The presence of asymmetrical breasts. [HPO:probinson]


Increased horizontal dimension of philtrum

Increased transverse dimension of philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. [PMID:19152422]


Prominent nasal root
Protruding bridge of nose
High nasal bridge
Protruding nasal bridge
Prominent bridge of nose
Prominent nasal bridge
Elevated nasal bridge

Anterior positioning of the nasal root in comparison to the usual positioning for age. [PMID:19152422]


Hypoplastic nose
Shortened nose
Nasal hypoplasia
Decreased length of nose
Short nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [HPO:probinson, PMID:19152422]


Motor developmental milestones not achieved

Failure to meet, or late achievement of motor development milestones.


Decreased vibration sense at ankles
Impaired vibration sensation at ankles
Decreased vibration sense in feet

A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. [HPO:probinson]


An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. [UManchester:psergouniotis]


Type I muscle fibre predominance
Type I muscle fiber predominance
Type 1 muscle fibre predominance

An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). [HPO:probinson]


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


The postnatal development of an abnormally large skull (macrocephaly). [HPO:probinson]


A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). [HPO:curators]


The presence of axonal regeneration following a previous axonal lesion. [HPO:probinson]


A type of dysmetria involving the limbs. [HPO:probinson]


Signs and symptoms worsen slowly with time

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


Recurrent infection of the gastrointestinal tract. [HPO:probinson]


Cranial nerve involvement
Cranial nerve abnormality
Cranial nerve disease
Abnormality of the cranial nerves
Abnormal cranial nerve morphology

Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. [HPO:probinson]


Osteolysis involving metatarsal bones. [HPO:probinson]


Fasciculations affecting the musculature of the arms and legs. [HPO:curators]


Underdeveloped retina
Retinal hypoplasia


Short nasal bridge
Decreased length of nasal bridge
Short bridge of nose
Decreased length of bridge of nose

Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []


Diffuse unlocalised atrophy affecting the cerebellum. [HPO:sdoelken]


A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. []


Hour glass shaped pituitary fossa
Omega shaped sella turcica
Hour glass shaped hypophysial fossa
Hour glass shaped sella turcica
J-shaped sella

A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. [HPO:pnrobinson]


Pointed proximal metacarpals
Pointed innermost long bone of hand

Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. [HPO:sdoelken]


An increased concentration of dermatan sulfate in the urine. [HPO:gcarletti]


Anterior flaring of ribs
Flaring of rib cage

The presence of wide, concave anterior rib ends. [HPO:curators]


Grey tooth shade
Grayish enamel
Gray colored tooth enamel
Grey coloured tooth enamel
Greyish enamel
Gray tooth shade

A grey discoloration of the dental enamel. [HPO:ibailleulforestier]


Pointed proximal second through fifth metacarpals

All of the metacarpal bones of the hand have a pointed proximal appearance. [HPO:curators]


Beta-galactosidase deficiency in fibroblasts and white blood cells


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


An abnormal increase of density of the bones making up the calvaria. [HPO:curators]


Neurologic deterioration, progressive
Progressive mental deterioration
Neurologic deterioration
Worsening neurological symptoms
Progressive neurodegeneration


No speech or language development
Absent speech development
Lack of language development
Lack of speech
No speech development

Complete lack of development of speech and language abilities. [HPO:probinson]


Areas of dysmyelination on MRI
Dysmyelination of the brain

Defective structure and function of myelin sheaths of the white matter of the brain. [HPO:probinson]


Long bone shortening
shortened long tubular bones
Short tubular bones
Short long bone

One or more abnormally short long bone. [HPO:probinson]


Soft tissue swelling of interphalangeal joints


Belly sticks out
Abdominal protuberance
Extended belly

An indication that there is unusual or prominent convexity of the abdomen on visual inspection.


Progressive hypertrophy of alveolar process of jaw


Narrowness of interpediculate distances in lower thoracic regions

Lower thoracic interpediculate narrowness

A reduction of the distance between the lower thoracic vertebral pedicles. [HPO:probinson]


Conical bullet-shaped distal ends of phalanges

The presence of short and wide phalanges which taper distally (bullet shaped")." [HPO:curators]


Failure of development of central incisor

Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. [HPO:ibailleulforestier]


partial duplication of hallux
Partial duplication of big toe

Partial duplication of the phalanges of the hallux


Leukoencephalopathy that gets more severe with time. [HPO:probinson]


Hepatocellular loss
Death of liver cells


Low B cell count
Reduction in B cell number
B cell lymphopenia
Decreased B cell count
B cell deficiency

An abnormal decrease from the normal count of B cells. [HPO:probinson]


Hypoplastic/small proximal phalanx of the thumb

Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. [HPO:probinson]


Neonatal onset
Onset in neonatal period
Onset in first weeks of life

Onset of signs or symptoms of disease within the first 28 days of life. [HPO:probinson]


Methylmalonic aciduria
High blood methylmalonic acid levels

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


Cupping of wide portion of long bone of hand

Metaphyseal cupping affecting the metacarpal bones. [HPO:curators]


Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson, PMID:15163819]


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


Irregularity of the iliac crest, which is the superior border of the wing of the ilium. [HPO:curators]


Wide digital bones
Broad phalanges
Widened phalanges
Wide phalanges

Increased side-to-side width of one or more phalanges of the fingers or toes. [HPO:probinson]


Progressive bending or abnormal curvature of the leg. [HPO:probinson]


An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. [http://www.dictionary.com/browse/cellular-immunodeficiency]


Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. []


Delayed ossification of the proximal femoral epiphysis

Delayed ossification proximal femoral epiphyses

Delayed proximal femoral epiphyseal ossification

Developmental delay of ossification of the proximal epiphysis of the femur. [HPO:probinson]


A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. [KI:phemming]


An enlargement of the posterior fontanelle relative to age-dependent norms. [HPO:probinson]


Metacarpal cone-shaped epiphyses
Cone-shaped end part of long bone

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. [HPO:curators]


Short stature, disproportionate mesomelic

A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). [HPO:probinson]


Intrahepatic atresia of biliary duct
Bile duct paucity

Atresia in the intrahepatic bile duct. [HPO:probinson]


Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). [PMID:19152421]


Cuboid-shaped thoracolumbar vertebral bodies


Forearm undergrowth
Hypoplasia involving forearm bones
Short forearm bones
Shortened forearm

Forearm shortening because of underdevelopment of one or more bones of the forearm. [HPO:probinson]


Absence of the proximal radial epiphysis. [HPO:curators]


Dilatation of the bladder postnatally. [HPO:probinson]


Underdevelopment of the cerebrum. [HPO:probinson]


Underdevelopment of external reproductive organs

Underdevelopment of part or all of the external reproductive organs. [HPO:probinson]


Hypoplastic bladder
Underdeveloped bladder

Underdevelopment of the urinary bladder. [HPO:probinson]


Bowing of long bones
Bowed long bones
Diaphyseal bowing of long bones
Camptomelia
Diaphyseal bowing
Bowing of the long bones

A bending or abnormal curvature of a long bone. [HPO:probinson]


Hypoplasia of inferior vermis
Inferior vermis hypoplasia

Underdevelopment of the inferior portion of the vermis of cerebellum. [HPO:probinson, PMID:16580298]


Unchanging facial expression
Fixed facial expression


The presence of an increased number of twists and turns of the conjunctival blood vessels. [HPO:probinson]


Thoracolumbar gibbus
Thoracolumbar gibbus deformity

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. [HPO:probinson]


Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. []


Congenital symmetrical palmoplantar keratosis


An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. [HPO:probinson, PMID:18506557]


Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. [HPO:probinson]


Depression of profile in both temporal regions. []


Severe faltering weight
Severe postnatal failure to thrive
Marked failure to thrive
Severe weight faltering


Juvenile type ovarian granulosa cell tumour

Juvenile type ovarian granulosa cell tumor

A granulosa cell tumor that affects females in the first three decades of life. In young girls it may present with pseudoprecocity. In women during reproductive years, it may present with menstrual abnormalities.


Abnormally high BLOOD GLUCOSE level after a meal.


Short and narrow face
Small face
Microface
Small facies
Microfacies
Hypoplasia of face
Facial hypoplasia

A face that is short (HP:0011219) and narrow (HP:0000275). [HP:probinson]


Abnormal increase in size of one or more metaphyses. [HPO:probinson]


Muscle cramps on exertion
Muscle cramps with exertion
Muscle cramps on exercise
Muscle cramps following exercise
Exercise-induced muscle cramping
Exercise-induced muscle cramps

Sudden and involuntary contractions of one or more muscles brought on by physical exertion. [HPO:probinson]


Muscle stiffness with exercise
Muscle stiffness, exercise-induced
Exercise-induced muscle stiffness

A type of muscle stiffness that occurs following physical exertion. [HPO:probinson]


An abnormally increased tendency towards muscle fatigue induced by physical exercise. [HPO:curators]


Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. [HPO:probinson]


Premature fusion of end part of digital bone

Premature fusion of phalangeal epiphyses

Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. [HPO:probinson]


Ossification affecting the set of cartilages of larynx. [HPO:probinson]


Congenital palmoplantar keratosis
Congenital palmoplantar keratoderma
Congenital palmoplantar keratodermia

Abnormal thickening of the skin on the palms and soles that is present at birth. []


Resorption of alveolar processes of jaw
Atrophy of alveolar processes of jaw
Resorption of alveolar ridges
Resorption of alveolar margins
Atrophy of alveolar margins
Shrinking of gum ridges
Shrinking of alveolar ridges


Birth length < 3rd percentile
Birth length <3rd percentile


An increase in bone density affecting the calvaria (roof of the skull). [HPO:curators]


Ovoid vertebrae
Ovoid-shaped vertebral bodies
Oval vertebral bodies

When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. [HPO:probinson]


Absent frontal sinus
Absence of frontal sinuses
Missing frontal sinus

Aplasia of frontal sinus. [HPO:probinson]


Corneal abnormalities
Corneal abnormality
Abnormality of the cornea

Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. [HPO:probinson]


Cerebellar vermis aplasia/hypoplasia
Hypo/aplastic vermis

Aplasia/Hypoplasia of the cerebellar vermis

Absence or underdevelopment of the vermis of cerebellum. [HPO:curators]


Brainstem hypoplasia/dysplasia
Malformation of brainstem structures

A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. [HPO:probinson]


Thickening of the tubular basement membrane

Increase in thickness of the basement membrane of the tubulus of the kidney. [PMID:20142905]


No light-evoked response on electroretinogram

Lack of any response to stimulation upon electroretinography. [HPO:probinson]


Midline skin dimples over anterior/posterior fontanelles


Small milk teeth
Underdevelopment of primary teeth
Underdevelopment of milk teeth
Decreased size of primary teeth
Small primary teeth
Hypoplastic deciduous teeth
Decreased size of baby teeth
Underdevelopment of baby teeth
Decreased size of primary tooth
Decreased size of milk teeth
Small baby teeth
Decreased size of deciduous teeth

Developmental hypoplasia of the primary teeth. [HPO:ibailleulforestier]


A developmental defect resulting in the congenital absence of skin on the scalp. [HPO:probinson]


Hypoplastic bone marrow
Bone marrow hypoplasia
Bone marrow hypocellularity

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. [DDD:wouwehand, HPO:probinson]


Low posterior hair line
Low hairline at back of neck

Hair on the neck extends more inferiorly than usual. [PMID:19125436]


Abnormal T cell morphology
Cellular immune defect
Defective cellular immunity
Abnormal T cells

An abnormality of T cells. [HPO:curators]


Abnormal serum immunoglobulin concentration

An abnormal deviation from normal levels of immunoglobulins in blood. [HPO:probinson]


Lateral displacement of the femoral head

A developmental anomaly with lateral displacement of the femoral head. [HPO:probinson]


Reduced natural killer cell number
Reduced NK cell number

Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. [HPO:probinson, PMID:23993353]


Lack of delayed skin hypersensitivity reaction

Absence of delayed hypersensitivity skin test

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


Calcium kidney stone
Ca2+ kidney stone
Ca kidney stone
Ca2+ nephrolithiasis
Ca nephrolithiasis

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


Skin dimple over apex of long bone angulation


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


Low calcium seizures
Seizures due to hypocalcemia


Intrauterine growth retardation, severe
Severe prenatal growth deficiency

Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. [HPO:probinson]


Uneven increase in bone density
Patchy increase of bone mineral density

Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:curators]


Diffusely large eye (with megalocornea) without glaucoma. [HPO:probinson]


Deficient platelet aggregation
Platelet aggregation defect
Impaired platelet aggregation

An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. [DDD:wouwehand]


Abnormal increased size of the posterior cranial fossa. [PMID:28295149]


Erlenmeyer flask deformity of distal femur

Erlenmeyer flask deformity of the femurs

Flaring of distal femur. [HPO:probinson]


Enlarged first metatarsal
Wide 1st long bone of foot
Broad 1st metatarsal

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


Congenital hypertrophy of left ventricle


High hyperopia
Severe long-sightedness
Severe farsightedness
High-grade hypermetropia

A severe form of hypermetropia with over +5.00 diopters. [DDD:ncarter, ORCID:0000-0003-0986-4123]


The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. [UCDenver:tjcallahan]


An increase in the level of L-2-hydroxyglutaric acid in the urine. [ORCID:0000-0001-5208-3432]


Psychomotor regression beginning in infancy


Severe demyelination of the white matter

A severe loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]


A rare vaginal malformation characterized by the presence of a complete or incomplete transverse septum at any level of the vagina (most frequently the upper or middle third), resulting from incomplete fusion between the Müllerian duct component and the urogenital sinus component of the vagina during embryogenesis. The condition is only rarely diagnosed in neonates or infants, unless it causes significant hydromucocolpos. Complete septa present with primary amenorrhea, cyclic pelvic pain, dyspareunia, or a pelvic mass consisting of accumulated menstrual blood, while incomplete septa may lead to dyspareunia and dysmenorrhea.


Adrenal gland dysplasia
Dysplastic adrenal glands

Abnormal development of the adrenal gland. [DDD:spark]


Cerebral gyral anomalies
Abnormal gyration
Gyral disorganization

An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. [HPO:curators]


Any structural abnormality of the vagina. [HPO:probinson]


Cleft lower lip
Lower labial cleft
Cleft of the lower lip


Cleft in cranial base
Cleft in skull base

A bony defect in the skull base. [HPO:curators]


Scalloping of vertebral bodies
Biconcave 'codfish' vertebrae
Fish vertebrae
Codfish vertebrae
Biconcave vertebrae

Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. [HPO:probinson]


Increased level of methionine in urine. [UCDenver:tjcallahan]


A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. [PMID:18830393]


Uplifted earlobe
Uplifted earlobes
Upturned earlobe
Lobe, uplifted
Upturned earlobes
Fleshy upturned lobules

An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. [HPO:probinson, PMID:19152421]


Prominent tip of nose
Large nasal tip
Large tip of nose
Pronounced tip of nose
Pronounced nasal tip
Prominent nasal tip


Extension of the columella below the ala nasi

Columella extending inferior to the level of the nasal base, when viewed from the side. [PMID:19152422]


Broad eyebrow
Broad eyebrows
Increased vertical width of eyebrow
Flared eyebrow
Increased vertical height of eyebrow
Flared eyebrows
Increased vertical thickness of eyebrow

Regional increase in the width (height) of the eyebrow. [PMID:19125427]


An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. [DDD:dbrown, PMID:16549603, PMID:18458183]


The presence of lymphangiectasis of the thyroid gland. [HPO:probinson]


Peg-shaped incisors
Peg shaped incisors
Shark tooth incisor
Conoid incisor
Cone shaped front tooth

An abnormal conical morphology of the incisor tooth. [HPO:ibailleulforestier]


An abnormal dilatation of lymph vessels in the pericardium. [PMID:18391124]


The presence of lymphangiectasis in the pancreas. [HPO:probinson]


The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. [PMID:30177408]


Carp-like mouth
Wide, carp-shaped mouth
Large, carp-shaped mouth
Fish mouth
U-Shaped upper lip vermilion

Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. [PMID:19125428]


Decreased width of baby teeth
Decreased width of milk teeth
Decreased width of primary tooth
Small deciduous teeth
Decreased width of deciduous teeth
Microdontia of deciduous teeth

Decreased size of the primary teeth. [HPO:ibailleulforestier]


Decreased number of sternal ossification centres

Decreased number of sternal ossification centers

A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. [HPO:probinson, PMID:10204210]


The presence of an abnormally thin calvarium. [HPO:probinson]


Coronal suture synostosis
Craniosynostosis of coronal suture
Coronal suture craniosynostosis

Premature closure of the coronal suture of skull. [HPO:probinson]


An increase in the amount of glycogen stored in hepatocytes compared to normal. [HPO:probinson]


A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. [HPO:probinson]


Encephalopathy with onset in the infantile period. [HPO:probinson]


Dilatation of lateral cerebral ventricles


An increased concentration of dicarboxylic acid in the urine. [HPO:gcarletti]


A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. [HPO:probinson]


Short long bone of hand with rounded innermost ends

Short metacarpals with rounded proximal ends


An abnormally slow velocity of horizontal saccadic eye movements. [HPO:probinson]


Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. [HPO:probinson, PMID:572501]


Abnormal calcification of a cardiac valve. [HPO:probinson]


Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. [HPO:gcarletti]


Large vacuolated foam cells ('NP cells') on bone marrow biopsy

Large vacuolated foam cells on bone marrow biopsy

The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. [HPO:probinson]


Progressive mental and motor deterioration


Beaked vertebral bodies
Anterior beaking of vertebral bodies
Beaking of vertebral bodies
anterior beaking
Anterior beaking of vertebrae

Anterior tongue-like protrusions of the vertebral bodies. [HPO:probinson]


Ribs that are increased in width and taper to the posterior ends. [HPO:probinson, PMID:20504305]


Aplasia or hypoplasia of the paranasal sinuses. [HPO:probinson]


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


Absent/underdeveloped tailbone
Absent/small tailbone


Elevated sweat Cl-
Elevated sweat chloride
Elevated sweat Cl

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


Accessory spleens
Multiple small spleens
Multiple accessory spleens

Polysplenia is a congenital disease manifested by multiple small accessory spleens. [HPO:curators]


Abnormal helices
Helix abnormal
Abnormality of the helix

An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [HPO:probinson]


A loss or impairment of the sensation of the relative position of parts of the body and joint position. [HPO:probinson]


Areflexia, lower limbs
Areflexia of the lower limbs
Absent lower limb tendon reflexes
Areflexia in lower limbs

Inability to elicit tendon reflexes in the lower limbs. [HPO:probinson]


Excessive wrinkled skin of palms and soles

Loose, wrinkled skin of hands and feet. [HPO:probinson]


Absent/underdeveloped calf bone
Fibular aplasia/hypoplasia
Hypoplastic/aplastic fibulae
Absent/small calf bone

Absence or underdevelopment of the fibula. [HPO:curators]


Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). [HPO:sdoelken]


Absent/small toenails
Absent/underdeveloped toenails
Aplastic/hypoplastic toenails
Hypoplastic-absent toenails

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


The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. [HPO:curators]


The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. [HPO:curators]


Small fingernail
Underdeveloped fingernail

Underdevelopment of a fingernail. [HPO:curators]


Sloping shoulders
Rounded shoulders
Down-sloping shoulders
Rounded, sloping shoulders

Low set, steeply sloping shoulders. [HPO:probinson]


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


Underdevelopment of the philtrum. [HPO:probinson]


Partial or complete syndactyly 3rd-4th fingers

Syndactyly with fusion of fingers three and four. [HPO:sdoelken]


Reduced number of beta cells in the pancreatic islets of Langerhans. [HPO:probinson]


Increased bone density in end part of bone

Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:sdoelken]


Short, hypoplastic middle phalanx of finger, affecting all fingers. [HPO:probinson]

Shortening of all middle phalanges of the fingers


Small femoral heads
Small head of thigh bone
Hypoplastic femoral head

Underdevelopment of the femoral head. [HPO:probinson]


An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. [PMID:12525546, PMID:12966518]


Hyperkeratosis affecting the sole of the foot. [HPO:probinson]


A type of blistering in which the lesions are located beneath the epidermis. []


Nails that easily break. [HPO:probinson]


Deep cerebral white matter hypodensities

Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. [HPO:probinson, PMID:16239634]


Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). [HPO:curators]


Fusion of capitate and hamate
Fusion of hamate and capitate
Fused capitate and hamate
Capitate-hamate fusions


Cone-shaped end part of digital bones 2 to 5

Cone-shaped epiphyses of phalanges 2 to 5


Recurrent partial dislocations of the mandible. [HPO:curators]


Hyperkeratosis of the gingiva. [HPO:ibailleulforestier]


Pneumothorax occurring neonatally without traumatic injury to the chest or lung. [HPO:probinson]


A progressive form of scoliosis with congenital onset. [HPO:probinson]


Reduction in the number of scalp follicles

Decreased number of hairs per unit area of skin of the scalp. [PMID:19125436, PMID:28061825]


Abnormality of the infranasal depression

An abnormality of the philtrum. [HPO:probinson]


Progressively reduced or lacking hair growth. [HPO:curators]


Lack of sternal ossification
Absent sternal mineralization

Lack of formation of mineralized bony tissue of the sternum. [HPO:probinson]


Atretic auditory canals
Absent ear canal
Auditory canal atresia


Abnormally increased variability of the size of the vertebral bodies. [HPO:probinson]


Decreased joint mobility
Limited joint motion
Decreased mobility of joints
Limited joint mobility
Limitation of joint mobility

A reduction in the freedom of movement of one or more joints. [HPO:probinson]


Bossing of parietal bone
Biparietal bossing

Parietal bossing is a marked prominence in the parietal region. [HPO:probinson]


Absence of paranasal sinuses
Missing paranasal sinuses

Aplasia of the paranasal sinuses. [HPO:probinson]


Progressive bending or abnormal curvature of a long bone. [HPO:probinson]


An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. [HPO:probinson]


Hyperhidrosis, episodic
Sporadic excessive sweating

Intermittent episodes of abnormally increased perspiration. [HPO:probinson]


Wide costochondral junctions
Prominent costochondral junction
Enlarged costochondral junctions
Widened costochondral junction
Costochondral thickening

Enlargement of the costochondral junction

Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]


Irregular lacy iliac crest
Lacy appearance of iliac crest

Irregularities of the iliac crest that produce the appearance of a lace border around it. [HPO:probinson]


Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. [HPO:probinson]


Multicentric ossification of proximal humeral epiphyses


Multicentric ossification of proximal femoral epiphyses


Lateral thinning of eyebrows
Limited hair on end of eyebrow
Laterally sparse eyebrows
Laterally sparse eyebrow
Sparse lateral eyebrows
Lateral hypoplasia of eyebrows

Decreased density/number and/or decreased diameter of lateral eyebrow hairs. [HPO:probinson]


Speckled calcifications in end part of innermost long bone of upper arm

Stippled calcification proximal humeral epiphyses


Partial to complete agenesis of corpus callosum

Partial or complete agenesis of the corpus callosum

Partial or complete agenesis of corpus callosum

Partial-total agenesis of corpus callosum


Infraorbital creases
Infraorbital crease
Crease in skin under the eye
Groove in skin under the eye
Underorbital skin creases

Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. [PMID:19125427]


Stroke-like episodes
Strokelike episodes

No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. [PMID:22715346, PMID:23907585]


Limited mobility of innermost hinge joint

Limited mobility of proximal interphalangeal joint


Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. [HPO:probinson]


A cataract that affects the anterior part of the cortex of the lens. [HPO:probinson]


A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. [HPO:probinson, PMID:2816648]


A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. [PMID:12934786, PMID:18195376, PMID:20028879]


Absent/small kidney
Renal agenesis/hypoplasia
Absent/underdeveloped kidney
Renal aplasia/hypoplasia

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


Unusual hairline with hair growth on temples extending to lateral eyebrow

Extension of hair growth on temples to lateral eyebrow

A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. [HPO:probinson]


Morphological abnormality of the middle ear

An abnormality of the morphology or structure of the middle ear. [DDD:mbitner-glidicz]


The presence of multiple areas of atresia affecting the small intestine. [HPO:probinson]


Decreased length of columella
Columella, short

Reduced distance from the anterior border of the naris to the subnasale. [PMID:19152422]


Slender finger
thin fingers
Narrow fingers
Slender fingers

Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [PMID:19125433]


Poorly formed palmar creases
Hypoplastic palmar creases
Shallow palm line
Shallow palmar creases

Poorly defined or shallow palmar creases. [PMID:19125433]


High, prominent forehead
Brachy-turricephaly
Turribrachycephaly

Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. [PMID:8460563]


Flattened forehead
Frontal flattening
Flat forehead

A forehead with abnormal flatness. [HPO:probinson]


Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). [HPO:probinson]


Broad alveolar margins
Wide gum ridges
Widened alveolar ridges
Wide alveolar margins


Hyperostosis of facial bones
Enlargment of the facial bones
Excessive growth of facial bones
Hyperostosis of facial skeleton
Overgrowth of facial skeleton
Excessive growth of facial skeleton
Hypertrophy of the facial bones
Overgrowth of the facial bones
Increase in size of the facial bones
Overgrowth of facial bones

Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. [HPO:probinson]


Club-shaped distal femora
Club-shaped outermost end of thighbone

An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. [HPO:probinson]


Uneven increase in bone density in finger bone

Patchy sclerosis of the phalanges of the hand

Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. [HPO:probinson]


Malformation of the hepatic ductal plate


Abnormal flatness (decreased height) of epiphyses. [HPO:probinson]


Excessively deep creases of the palm. [PMID:19125433]


A facial cleft characterized by involvement of the orbit. [PMID:2503273]


An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia.


For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. [PMID:19125433]


Patchy demyelination of subcortical white matter

Patchy loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]


Delayed nerve conduction velocity
Slow nerve conduction velocity
Reduced nerve conduction velocities
Slowed nerve conduction velocities
Decreased NCV
Decreased nerve conduction velocities

A reduction in the speed at which electrical signals propagate along the axon of a neuron. [HPO:probinson]


Severe postnatal growth failure
Severe growth delay in children
Marked growth retardation
Severe postnatal growth deficiency

Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. [DDD:hfirth]


Focal hypopigmentation of the retinal pigment epithelium

Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. [HPO:probinson]


Increased bone density of end part of the hand bones

Ivory epiphyses of the phalanges of the hand

Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. [HPO:curators]


A reduction in the level of thymic horomone. [PMID:7058086]


Precociously senile appearance
Prematurely aged appearance


Reduced fat tissue below the skin
Reduced subcutaneous adipose tissue
Decreased subcutaneous fat
Decreased subcutaneous adipose tissue
Scanty adipose tissue

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. []


Absent clavicles
Absent collarbone
Aplastic clavicles

Absence of the clavicles as a developmental defect. [HPO:probinson]


Inclined forehead
Posteriorly sloping forehead
Receding forehead
Sloping forehead

Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. [PMID:19125436]


Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. [PMID:30386957, PMID:788535]


Venous varicosities of coeliac and mesenteric vessels

Venous varicosities of celiac and mesenteric vessels

Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. [HPO:probinson]


Arteriovenous fistulas of coeliac and mesenteric vessels

Arteriovenous fistulas of celiac and mesenteric vessels


Lip telangiectases
Telangiectasia of the lips
Labial telangiectasia

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. [HPO:probinson]


Palate teleangiectases
Telangiectasia of the roof of the mouth
Palate telangiectases
Palatal angioectasia
Palatal telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. [HPO:curators]


Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. [HPO:probinson, MP:0000920]


Increased cellular sensitivity to UV light


Prematurely aged facial appearance
Wizened face
Aged facial appearance
Prematurely aged face
Premature aged appearance

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. [HPO:probinson]


Absent inferior half of the cerebellar vermis

Aplasia of the inferior half of the cerebellar vermis


Partial or complete wasting (loss) of dentate nucleus. [HPO:probinson]


Ridging of metopic suture
Prominent frontal suture
Prominent frontal ridge
Prominent metopic suture
Ridging of frontal suture

Vertical bony ridge positioned in the midline of the forehead. [HPO:probinson, PMID:19125436]


The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. [HPO:probinson]


Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. [HPO:probinson, PMID:11601420, PMID:2246660]


Lack of symmetry between the left and right halves of the thorax. [HPO:probinson]


Flat cheekbone
Depressed malar region
Zygomatic flattening
Malar flattening
Decreased size of malar bone
Malar hypoplasia

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]


The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. [PMID:19125433]


Generalized hypotonia
Hypotonia, generalized
Hypotonia, generalised
Generalized decreased muscle tone
Generalised decreased muscle tone
Generalized muscular hypotonia
Generalised hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [HPO:curators]


Muscular weakness, limb-girdle
Limb girdle weakness
Muscle weakness, limb-girdle

Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. [HPO:curators]


Decreased number of peripheral myelinated nerve fibres

Decreased number of large and small myelinated fibres

Decreased number of large and small myelinated fibers

Decreased number of peripheral myelinated nerve fibers

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). [HPO:probinson]


A reduced count of megakaryocytes. [HPO:probinson]


Renal tubular cell atrophy
Renal tubular atrophy

The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. [HPO:probinson, PMID:27211375]


Limited mobility of the eye within its socket. []


Lethal in infancy
Infantile death
Death in infancy

Death within the first 24 months of life. [HPO:probinson]


Thickened calvaria
Increased thickness of skull cap
Thick calvarium
Thickened calvarium
Increased thickness of calvarium
Increased calvarial thickness
Increased thickness of cranial vault
Thickened skull cap
Thickened cranium
Calvarial thickening
Calvarium thickened
Increased thickness of calvaria
Thickening of the calvaria
Thickened cranial vault
Thick calvaria

The presence of an abnormally thick calvaria. [HPO:curators]


Interruption of the innervation of the diaphragm. [HPO:probinson]


Overriding scrotum
Scrotum surrounds penis

Superior margin of the scrotum superior to the base of the penis. [HPO:probinson, PMID:23650202]


Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. []


Double urinary collecting systems on intravenous pyelography

A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. [HPO:probinson]


Abnormality of the lacrimal duct
Abnormality of the lacrimal canaliculus

An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. [HPO:probinson]


Failure of development of parotid duct
Missing parotid duct
Absent stensen duct
Absence of parotid duct
Failure of development of stensen duct
Missing stensen duct


sparse to absent pubic hair
Decreased sexual hair
Sparse pubic hair

Reduced number or density of pubic hair. [HPO:probinson]


sparse to absent axillary hair
Limited armpit hair
Little underarm hair

Reduced number or density of axillary hair. [HPO:probinson]


Renal bicarbonate wasting
HCO3-wasting renal tubular acidosis

Bicarbonate-wasting renal tubular acidosis


Facial muscle weakness of muscles innervated by CN VII


Decreased motor nerve conduction velocities

Decreased motor nerve conduction velocity

A type of decreased nerve conduction velocity that affects the motor neuron. [HPO:probinson]


Prominent malar region
Malar excess
Malar hyperplasia

Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. [DDD:jclayton-smith]


Diffuse swelling of cerebral white matter


A reduction in the rate of apoptosis in lymphocytes. [HPO:probinson]


A chronic form of lymphadenopathy that is not related to infection. [HPO:probinson]


Increase in B cell count
Increase in B cell number
Increased number of B cells

An abnormal increase from the normal count of B cells. [HPO:probinson]


Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors

Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. []


Increased total IgG in blood
Increased IgG level
Increased levels of IgG

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


The presence in the serum of autoantibodies directed against thrombocytes. [HPO:probinson]


Antineutrophil antibodies
Neutrophil antibody positive

The presence of autoantibodies in the serum that react against neutrophils. [HPO:probinson]


An reduced concentration of progesterone in the blood. []


Nail aplasia/hypoplasia
Absent/hypoplastic nails
Absent/underdeveloped nails
Absent/small nails

Aplasia or developmental hypoplasia of the nail. [HPO:probinson]


Increase in size of one or more joints. [HPO:probinson]


Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. [HPO:probinson]


Speckled calcifications in end part of bone

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


Calcific stippling of infantile cartilaginous skeleton


Calcification (abnormal deposits of calcium) in the laryngeal tissues. [HPO:probinson]


Inability to walk by childhood/adolescence


Limited cervical range of motion
Limited neck range of motion


Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. [PMID:19125433]


Neonatal jaundice
Prolonged neonatal jaundice

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. [HPO:probinson]


Elevated long chain fatty acids
Increased serum long-chain fatty acids
Elevated serum long-chain fatty acids

Elevated circulating long chain fatty acid concentration

Increased concentration of long-chain fatty acids in the blood circulation. [HPO:probinson]


Dense calcifications in the cerebellar dentate nucleus


A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. [HPO:probinson]


Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. [HPO:probinson]


Abnormal fat tissue distribution below the skin

Abnormal subcutaneous fat tissue distribution


Small twelfth rib
Underdeveloped twelfth rib


Abnormality of tooth eruption
Abnormal dental eruption
Anomaly of dental eruption

An abnormality of tooth eruption. [HPO:ibailleulforestier]


The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. [HPO:probinson]


Absence of axillary hair. [HPO:probinson]


Bowing of outer large bone of the forearm

A bending or abnormal curvature of the radius. [HPO:probinson]


Weak frontalis muscle
Weakness of forehead muscle

Reduced strength of the frontalis muscle (which is located on the forehead). [HPO:curators]


Severe, generalised osteoporosis
Severe, generalized osteoporosis
Severe generalised osteoporosis

Severe degree of osteoporosis. [HPO:curators]


A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. [HPO:probinson]


Dislocated femoral heads
Dislocated head of thigh bone

Joint dislocation of the femoral head. [HPO:probinson]


Hypoplastic ischium
Hypoplastic ischii
Hypoplastic ischial bones

Underdevelopment of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]


Thin shaft of long bone
Thin diaphyses of long bones

Decreased width of the diaphysis of long bones. [HPO:probinson]


Small forehead fontanel
Small anterior fontanel

Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. [HPO:probinson]


A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. [HPO:probinson]


Bowing of the humerus
Humeral bowing
Bowed long bone in upper arm

A bending or abnormal curvature of the humerus. [HPO:probinson]


Bowed femurs
Bowed femura
Bowed femur
Bowed thighbone

Bowing (abnormal curvature) of the femur. [HPO:probinson]


Increased size of the basal ganglia. [HPO:probinson]


Proximal radial shortening owing to a congenital defect of development. [HPO:probinson]


Underdeveloped innermost upper end of calf bone

Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. [PMID:880750]


Conical phalangeal epiphyses
Cone-shaped epiphyses of the fingers
Cone-shaped epiphyses of hand
Coned epiphyses of hands
Cone-shaped end part of finger bones

A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. [HPO:curators]

Cone-shaped epiphyses of the phalanges of the hand


Episodic hemolysis
Episodic hemolytic anaemia

A form of hemolytic anemia that occurs in repeated episodes. [HPO:probinson]


An increased concentration of ammonia in the blood with sudden onset. [HPO:probinson]


Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. [HPO:probinson]


An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. [PMID:30823446]


Spasticity that increases in degree with time. [HPO:probinson]


Contractures of the joints of the lower limbs


Decreased number of large peripheral myelinated nerve fibres

Decreased number of large peripheral myelinated nerve fibers

A reduced number of large myelinated nerve fibers. [HPO:probinson]


Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. [GO:0030183]


Increased breadth of face
Transverse excess of face
Broad face
Increased horizontal dimension of face
Horizontal excess of face
Wide facies
Transverse hyperplasia of face
Broad facies
Increased transverse dimension of face
Increased width of face
Horizontal hyperplasia of face
Wide face

Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). [PMID:19125436]


Small frontal sinuses
Underdeveloped frontal sinuses
Decreased volume of frontal sinuses

Underdevelopment of frontal sinus. [HPO:probinson]


Enlarged end part of innermost thighbone

Enlargement of the proximal femoral epiphysis

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


Flat tip of nose
Nasal tip, recessed
Flat nasal tip
Retruded tip of nose
Flattened nasal tip
Depressed nasal tip
Caved in nasal tip
Nasal tip, depressed
Nasal tip, retruded
Depressed tip of nose

Decreased distance from the nasal tip to the nasal base. [PMID:19152422]


Decreased circulating apolipoprotein C-II concentration

Reduced concentration of apolipoprotein C-II in the blood circulation. []


Ring finger and little finger metacarpal synostosis

Synostosis of the fourth and fifth metacarpal bones


Underdevelopment of the anterior pituitary gland. [DDD:spark, HPO:probinson]


Postnatal growth failure
Growth delay as children
Postnatal growth deficiency
Growth retardation as children
Postnatal growth deceleration

Slow or limited growth after birth. [DDD:hfirth]


Urine concentrating defect
Urine concentration defect

A defect in the ability to concentrate the urine. [HPO:probinson]


Increased extraneuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:11406682]


Granular osmiophilic deposits (GROD) in cells


Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. [HPO:probinson]


Intermittent episodes of ketoacidosis. [HPO:probinson]


Pigmentation of the outer white part of the eyeball


Progressively abnormally enlarging cranium

Progressively abnormally enlarging skull

The progressive development of an abnormally large skull. [HPO:probinson]


Lack of platelet dense granules, a type of platelet organelles. [PMID:11809908]


Agenesis of the cerebral white matter
White matter agenesis

Congenital defect with failure of the development of the cerebral white matter. [HPO:probinson]


Male precocious puberty
Early onset of puberty in males

The onset of puberty before the age of 9 years in boys. [HPO:curators]


Kleeblattschaedel
Cloverleaf skull
Cloverleaf skull shape

Trilobar skull configuration when viewed from the front or behind. [PMID:19125436]


Exercise-induced myoglobinuria in adults


An increase in the level of medium chain dicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]


A bending or abnormal curvature of the distal portion of the femur. [HPO:probinson]


Impaired T cell function
T-cell dysfunction

Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. [ORCID:0000-0001-7941-2961]


An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. [HPO:probinson]


Decreased serum alkaline phosphatase
Low ALP

Abnormally reduced serum levels of alkaline phosphatase. [HPO:probinson]


Incipient distal thumb phalanx duplication

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. [HPO:sdoelken]


Duplication of phalanx of big toe
Duplication of big toe bone
Hallucal duplication
Duplicated hallux
Duplication of great toes

Partial or complete duplication of one or more phalanx of big toe. [HPO:probinson]


Any defect in the valve connecting the heart and the pulmonary artery. []


Absent/underdeveloped long bone of foot
Aplastic/hypoplastic metatarsals
Absent/small long bone of foot
Absent or hypoplastic metatarsal
Absent/hypoplastic metatarsals
Absent/hypoplastic metacarpals

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


A lack of bone mineralization of the vertebral bodies. [HPO:probinson]


A lack of ossification of the vertebral bodies. [HPO:probinson]


Self-mutilation of tongue and lips due to involuntary movements


Sternal ossification centre abnormalities

Sternal ossification center abnormalities

Any anomaly in the formation of the bony substance of the sternum. [HPO:probinson]


A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. [HPO:probinson]


Asymmetry of cranium
Cranial vault asymmetry

Asymmetry of the bones of the skull. [HPO:curators]


Protruding area between the eyebrows
Hyperplasia of glabella
Prominent area between the eyebrows
Convex glabella

Forward protrusion of the glabella. [HPO:probinson, PMID:19125436]


Accessory proximal metacarpal ossification centres

Accessory proximal metacarpal ossification centers

A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. [HPO:doelkens]


Decreased density/number and/or decreased diameter of medial eyebrow hairs. []


Gonadal tissue inappropriate for external genitalia or chromosomal sex


H-shaped dimple of the chin
Chin with H-shaped crease
Chin, H-Shaped Crease
Chin, H-shaped groove

H-shaped crease in the fat pad of the chin. [PMID:19125436]


A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. []


A clear, yellow, or brown, well-defined, dome-shaped elevation projecting from the surface of the iris. It is composed of hamartomatous melanocytic aggregates and is the most common ocular manifestation of neurofibromatosis type 1.


The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. [PMID:12186179]


Hypoplastic iris stoma
Iris stromal hypoplasia
Underdeveloped iris stroma

Underdevelopment of the stroma of iris. [HPO:probinson]


The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. [DDD:ncarter, PMID:18179896]


Hindfoot equinus
Equinus deformity of the calcaneus

Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. [HPO:probinson]


Calcaneovalgus Foot
Calcaneovalgus
Valgus position of the calcaneus

This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). [HPO:probinson]


The presence of an increased number of twists and turns of the retinal blood vessels. [HPO:probinson]


Abnormal internal carotid artery morphology

An abnormality of an internal carotid artery. [GOC:TermGenie]


Pectus deformity
Abnormality of the sternum
Pectus deformities
Sternal anomalies

An anomaly of the sternum, also known as the breastbone. [HPO:probinson]


Flat head of thigh bone
Flattened femoral head

An abnormally flattened femoral head. [HPO:probinson]


Hypoplasia of the proximal phalanges of the hand

Congenital hypoplasia of one or more proximal phalanx of finger. [HPO:probinson]


Hair that is disorderly, stands out from the scalp, and cannot be combed flat. []


Underdeveloped ulna
Ulnar hypoplasia
Hypoplasia of the ulna
Hypoplastic ulna

Underdevelopment of the ulna. [HPO:curators]


Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. [HPO:probinson, PMID:11264130]


Tooth enamel pits
Dental enamel pitting
Dental enamel pits
Pitting of tooth enamel

The presence of small depressions in the dental enamel. [HPO:curators]


Three rows of eyelashes
Triple row of eyelashes


Skin tag in front of the ear
Preauricular fibroepithelial polyp
Preauricular skin tag
Preauricular tags
Preauricular acrochordon
Preauricular skin tags
Periauricular skin tag
Preauricular tag


Premature fusion of the metopic suture. [DDD:awilkie]


Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA.


Cone-shaped epiphyses of middle phalanges

Cone-shaped end part of the middle hand bones

Cone-shaped epiphyses of the middle phalanges of the hand


Hypotonia early
Infantile muscular hypotonia
Decreased muscle tone in infant
Hypotonia in infancy
Infantile hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. [HPO:curators]


Swelling of proximal interphalangeal joints


Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). [HPO:probinson]


Involuntary and irregular twitches of the chin. [HPO:probinson, PMID:16816905]


Middle ear abnormalities
Middle ear abnormality

An abnormality of the middle ear. [HPO:probinson]


Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. [HPO:probinson]


Little foramen magnum
Narrow foramen magnum
Foramen magnum stenosis

An abnormal narrowing of the foramen magnum. [HPO:probinson]


Short and small iliac bones
Small iliac bones

Underdevelopment of the ilium. [HPO:probinson]


Small abnormally formed shoulder blade
Small abnormally formed scapula


Small dilated blood vessels in fingerpads

Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. [HPO:curators]


Decreased vertical dimension of philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. [PMID:19152422]


Progressive conductive hearing impairment

A progressive type of conductive deafness. [HPO:probinson]


Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). [HPO:probinson, PMID:12089654]


Small septum of nose
Decreased size of nasal septum
Decreased size of septum of nose
Hypoplasia of septum of nose
Small nasal septum

Underdevelopment of the nasal septum. [HPO:curators]


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


A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). [HPO:probinson]


Absent/underdeveloped outermost finger bone of the hand

Absent/small outermost finger bone of the hand

Hypoplastic to absent terminal phalanges

Aplasia/Hypoplasia of the distal phalanges of the hand

Absence or underdevelopment of the distal phalanges. [HPO:curators]


Aplasia (absence) of the distal phalanges. [HPO:curators]


Aplasia of the distal interphalangeal creases

Absence of skin creases over distal interphalangeal joints

Absence of the distal interphalangeal flexion creases of the fingers. [HPO:curators]


Enlarged proximal interphalangeal joints


1-5 finger complete cutaneous syndactyly


Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. [HPO:curators]


2nd-5th toe middle phalangeal hypoplasia


A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Short fifth metacarpal
Fifth metacarpal hypoplasia
Shortened 5th long bone of hand
Short fifth metacarpals
Hypoplastic 5th metacarpal

Short fifth metacarpal bone. [HPO:probinson]


Hypothenar hypoplasia
Hypoplasia of the hypothenar eminence

Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. [HPO:probinson, PMID:19125433]


Reduced proximal interphalangeal joint space


Absent dorsal skin creases over affected joints


Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.


A variable severity of phenotypic features. [HPO:probinson]


Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. [HPO:curators]


Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. [https://orcid.org/0000-0001-5208-3432]


Abnormal facility in opposing the shoulders


Short stature, moderate
Moderate short stature

A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. [DDD:hfirth]


Depression located on the vermilion of the lower lip, usually paramedian. [HPO:sdoelken, PMID:19125428]


Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. [HPO:probinson]


Inferior malposition of the lower eyelid margin without eyelid eversion. [HPO:probinson, PMID:10946945]


Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. [HPO:probinson]


Dysplasia of the cervical vertebral column. [HPO:probinson]


The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. [HPO:probinson]


Coeliac axis syndrome
Dunbar syndrome
Celiac artery compression
Celiac axis syndrome
Coeliac artery compression

Compression of the CELIAC ARTERY by the median arcuate ligament, a fibrous band of the DIAPHRAGM, causing abdominal pain after eating and weight loss. OMIM: 116870


Zonular cataracts are defined to be cataracts that affect specific regions of the lens. [HPO:probinson, HPO:vkumar, PMID:18035564]


Frosted cataract
Needle-shaped cataract
Fasciculiform cataract

A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. [HPO:probinson, PMID:9718335]


Complete or partial absence of the corpus callosum

Hypoplasia or absence of the corpus callosum

Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum. [HPO:probinson]


Depressed supraorbital ridge
Flat supraorbital ridge
Hypoplasia of the supraorbital ridges
Flattened bony protrusion above eyes
Shallow orbital ridges
Shallow supraorbital ridge
Flat supraorbital margins
Hypoplastic supraorbital ridges
Hypoplasia of supraorbital margins
Depressed supraorbital margins

Flatness of the supraorbital portion of the frontal bones. [HPO:curators, PMID:19125436]


The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). [HPO:probinson]


Cutaneous syndactyly of digits
Syndactyly, cutaneous

A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. [HPO:probinson]


An abnormal anterior bending or curvature of the tibia. [HPO:probinson]


The presence of six or more cafe-au-lait spots. [DDD:cmoss]


The presence of a malformed cochlea. [HPO:probinson]


Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. [HPO:sdoelken]


Supraauricular sinus
Supraauricular sinuses
Supraauricular fistula
Pit above the ear

Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]


A retinal hamartoma that involves cellular elements of both the retina and the retinal pigment epithelium. (WHO 2018)

Combined hamartoma of the retinal pigment epithelium and retina


Branchial abnormality
Abnormality of branchial arch
Branchial anomalies
Abnormality of branchial apparatus

Congenital developmental defect arising from the primitive branchial apparatus. [HPO:sdoelken]


Bony fusion of malleus, incus, and stapes. [HPO:probinson]


Underdevelopment (hypoplasia) of the fourth toe. [HPO:probinson]


Mesomelia of the upper limbs
Upper limb brachymesomelia

Shortening of the middle parts of the arm in relation to the upper and terminal segments. [HPO:sdoelken]


Bilateral single transverse palmar creases

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. [HPO:probinson]


Missing middle phalanges
Absent middle phalanges
Absent middle bones of hand

Aplasia of the middle phalanx of the hand

Absence of one or more middle phalanx of a finger. [HPO:probinson]


A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. [HPO:probinson]


A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.


Abnormally developed (dysplastic) distal epiphysis of the radius. [HPO:curators]


Decreased finger mobility
Decreased finger movement


An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. [HPO:curators]


A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested.


A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.


Short index fingers
Short index finger
Hypoplastic/small index finger
Short index finger phalanges
Hypoplastic index finger phalanges

Hypoplasia of the second finger, also known as the index finger. [HPO:sdoelken]


Absent/underdeveloped middle index finger bone

Hypoplastic/aplastic middle phalanx of index finger

Absent/hypoplastic middle phalanx of 2nd finger

Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


Medial deviation of the second toe. [HPO:probinson]


A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.


Absent/small middle finger bone of the hand

Absent/underdeveloped middle finger bone of the hand

Aplasia/Hypoplasia of the middle phalanges of the hand


Thin proximal phalanges with broad epiphyses


Symphalangism affecting the distal phalanges of the hand

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. [HPO:sdoelken]


Hypoplastic proximal phalanx of the hallux

Underdevelopment (hypoplasia) of the proximal phalanx of big toe. [HPO:probinson]


Compensated disseminated intravascular coagulation

Chronic disseminated intravascular coagulation

A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. [HPO:probinson]


Increased circulating gonadotropin level

Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. [DDD:spark]


Polyp-like protrusions which are histologically hamartomas located in the stomach. [HPO:probinson]


Hypoplastic/small distal phalanx of the thumb

Hypoplastic (short) distal phalanx of the thumb. [HPO:sdoelken]


Fasciculations affecting the tongue muscle and the musculature of the face. [HPO:probinson]


An abnormality related to a defect of vertebral separation of cervical vertebrae during development. [HPO:probinson]


Tombstone-shaped innermost digital bones


A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. [HPO:probinson]


Decreased facial expressions
Decreased facial expression

A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. [HPO:probinson]


Abnormal retinal pigmentation
Abnormality of retinal pigmentation


Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). [HPO:probinson]


Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. [HPO:curators]


Underdeveloped biceps
Hypoplastic biceps

Underdevelopment of the biceps muscle. [HPO:curators]


The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. [HPO:sdoelken]


Extra bone on end of second long bone of hand


Synostosis involving metatarsal bones
Fusion of the long bones of the feet
Fusion of metatarsals


Absent/underdeveloped 3rd toe
Absent/small 3rd toe
Absent/hypoplastic third toe


Anterior segment developmental abnormality

Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. [DDD:ncarter]


Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. []


Little body hair
Limited body hair
Sparse body hair
Sparse to absent body hair

Sparseness of the body hair. [HPO:probinson]


A diffuse form of amyloidosis. [HPO:probinson]


Yellow-brown discoloration of the teeth
Yellow-brown discolored teeth
Yellow-brown discoloured teeth
Yellow-brown tooth shade


Severe delay of eruption of permanent teeth

Marked delay in eruption of permanent teeth


Late-onset form of familial Alzheimer disease


Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. [HPO:probinson]


Intermittent episodes of paralysis of all four limbs. [HPO:probinson]


The presence of calcium deposition in the choroid plexus. [HPO:probinson]


Hypoplastic lacrimal gland
Underdeveloped tear gland

Underdevelopment of the lacrimal gland. [HPO:probinson]


Atretic lacrimal punctum
Atretic lacrimal puncta

Congenital absence or closure of the opening of the lacrimal punctum. [HPO:probinson]


Absence of specific immunoglobulins directed against a specific antigen or microorganism. [PMID:17100769]


An abnormal indentation of the skin in the region of the nasal tip. [HPO:sdoelken]


Thick calvarial bones
Calvarial hyperostosis

Excessive growth of the calvaria. [HPO:probinson]


Small vertebral bodies
Small vertebrae
Underdeveloped back bones


Absent 1st long bone of foot
Aplasia of the 1st metatarsal
Absent 1st metatarsal

A developmental defect characterized by the absence of the first metatarsal bone. [HPO:probinson]


Abnormal morphology of the limbic system

Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. []


An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. [HPO:curators]


Wide distal phalanx of thumb
Broad terminal thumb phalanx
Broad outermost bone of the thumb
Wide outermost bone of thumb

Increased width of the distal phalanx of thumb. [HPO:sdoelken]


An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). []


Juvenile posterior subcapsular lenticular opacities


A hamartoma composed of normal retinal elements but lacks the distribution and organization of the normal retina and retinal pigment epithelium. (WHO 2018)


Hunched back in infancy
Round back in infancy


Absent cutis congenita over parietal area

Aplasia cutis congenita over parietal area

A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. [HPO:curators]


Aplasia cutis congenita over posterior parietal area


Aplasia cutis congenita on trunk or limbs

A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. [HPO:curators]


A unilateral vestibular Schwannoma (acoustic neurinoma). [HPO:curators]


A severe form of B lymphocytopenia in which the count of B cells is very low or absent. [HPO:probinson]


Caudal narrowing of interpedicular distances

Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. [HPO:probinson]


Narrow femoral necks
Narrow neck of thigh bone

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


Small carpal bones
Small carpals
Hypoplastic carpal bones
Hypoplasia of carpal bones

Underdevelopment of one or more carpal bones. [HPO:probinson]


Widened vestibular aqueduct
Dilated vestibular aqueduct

Increased size of the vestibular aqueduct. [DDD:mbitner-glidicz]


Notched upper eyelid
Upper eyelid colobomas
Coloboma of the upper eyelid
Cleft upper eyelid
Upper eyelid coloboma

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

Full thickness defect of the upper eyelid


Low urinary cyclic AMP response to PTH administration


Exaggerated skin markings (dermatoglyphics) on the palms of the hand. [PMID:23301728]


Elevated serum transaminases during infections

Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. [HPO:curators]


Elevated circulating thymidine concentration

Concentration of thymidine in the blood circulation above the normal range. []


Prolonged miniature endplate potentials
Prolonged MEPC
Prolonged MEPP

An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. [HPO:probinson]


Relatively increased growth of the fibula compared to that of the tibia. [HPO:probinson, PMID:17259417]


Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. [HPO:probinson]


Narrow thoracolumbar interpediculate distance

A reduction of the distance between thoracolumbar vertebral pedicles. [HPO:probinson]


Small hands and feet. [HPO:probinson, PMID:22286749]


Large halluces
Increased length of the hallux
Long big toe
Long halluces

Increased length of the big toe. [HPO:probinson]


Limited neck flexibility
Limited cervical flexion

Reduced abilty to lower the chin towards the chest by bending the neck. []


Decreased sensitivity toward insulin. [HPO:probinson]


Cataracts, posterior, subcapsular, iridescent

Iridescent posterior subcapsular cataract

A type of posterior subcapsular cataract characterized by an iridescent color. [HPO:probinson, PMID:7826272]


Type 2 muscle fibre atrophy
Type 2 fibre atrophy
Type 2 fiber atrophy

Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. [HPO:probinson]


Absence of hair in the anterior midline and/or parietal areas. [PMID:19125436]


Distal limb muscle weakness due to peripheral neuropathy


Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. []


Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. [HPO:probinson]


Abnormal odontoid peg
Abnormal odontoid process

Abnormality of the dens of the axis, which is also known as the odontoid process. [HPO:probinson]


Pectus carinatum affecting primarily the superior part of the sternum. [HPO:curators]


Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. [HPO:probinson]


Increased top to bottom height of vertebral bodies. [HPO:probinson]


The deposition of calcium phosphate microliths within the seminiferous tubules. [HPO:probinson]


Hyperinsulinemia hypoglycemia
Hyperinsulinemic hypoglycemia

An increased concentration of insulin combined with a decreased concentration of glucose in the blood. [HPO:probinson]


Increased concentration of 2-methylbutyryl glycine in the urine. [PMID:17883863, UCDenver:tjcallahan]


An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. [HPO:probinson]


Osteomyelitis leading to amputation due to slow healing fractures


Increased vertical dimension of philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. [PMID:19152422]


Thin red part of the upper lip
Decreased volume of upper lip
Decreased volume of upper lip vermilion
Thin upper lips
Decreased height of upper lip vermilion
Thin vermilion border of upper lip
Thin upper lip

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


Hypoplastic iliac wings
Small iliac wings
Hypoplastic iliac alae

Underdevelopment of the ilium ala. [HPO:probinson]


Hypoplastic pubic bones
Hypoplastic pubis

Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. [HPO:probinson]


Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). [HPO:probinson]


Enlarged end part of finger bones
Enlarged epiphyses of the fingers
Enlarged phalangeal epiphyses

Enlarged epiphyses of the phalanges of the hand

Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. [HPO:curators]


Cone-shaped end part of bone
Cone-shaped epiphysis
Coned epiphyses

Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. [HPO:probinson]


Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. [PMID:19125433]


Symmetrical, oval defects in the parietal bone


'molar tooth' sign on imaging
Molar tooth sign
'molar tooth sign' on brain imaging'

An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. [HPO:probinson, PMID:14657304]


Proximal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). [HPO:probinson]


Constricted, bell-shaped thorax
Narrow, bell-shaped thorax
Bell-shaped chest

The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. [HPO:probinson]


Epiphyseal ossification delay
Delayed opacification of the epiphyses
Delayed epiphyseal maturation
Delayed epiphyseal ossification


Small shallow orbits
Decreased depth of eye sockets
Shallow eye sockets
Decreased depth of orbits

Reduced depth of the orbits associated with prominent-appearing ocular globes. [HPO:probinson]


Abnormal increase in width of the distal region of the metacarpal bones. [HPO:curators]


Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. [Eurenomics:ewuehl, KPMP:arosenberg]


Abnormally increased production of urine by the fetus resulting in polyhydramnios. [HPO:probinson, PMID:21460147]


Cleft at the superior portion of the ear

Cleft at the superior portion of the pinna


A condition in which the superior portion of the helix is folded over to a greater degree than normal. [HPO:probinson]


Impairment in the physical production of speech sounds. [HPO:probinson]


Deformity of the jaw joint
Malformation of jaw joint
Abnormality of the jaw joint
Anomaly of the temporomandibular joint

Abnormality of the temporomandibular joint

An anomaly of the temporomandibular joint. [HPO:probinson]


Transient unilateral blurred vision
Hemianopic blurring
Hemianoptic blurring of vision

Transient blurring of vision associated with the aura phase of migraine. [HPO:probinson]


Hyperintense lesions in the basal ganglia on MRI


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


Fusion of shoulder blade to long bone in upper arm

Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. [HPO:probinson]


Delayed maturation and calcification of the rami (branches) of the pubic bone. [HPO:probinson]


Lower motor neuron disease
Abnormal lower motor neuron morphology
Lower motor neuron manifestations

Any structural anomaly of the lower motor neuron. [HPO:probinson]


Pallor of dorsal columns of the spinal cord

An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination. []


A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. [HPO:probinson]


Hypoplasia or unilateral/bilateral absence of ulna

Absence/underdevelopment of inner forearm bone

Absence or underdevelopment of the ulna. [HPO:curators]


Proximally placed thumbs
Low-set thumb
Attachment of thumb close to wrist
Low implantation of the thumb

Proximal mislocalization of the thumb. [HPO:probinson, PMID:19125433]


Decreased size of bridge of nose
Decreased size of nasal bridge
Hypoplastic bridge of nose
Small bridge of nose
Small nasal bridge


Thick alveolar ridges
Hyperplasia of alveolar process of jaw
Overgrowth of alveolar ridge
Enlarged alveolar ridge
Increased size of gum ridge
Thickened alveolar ridges
Increased size of alveolar ridge
Overgrowth of gum ridge
Hyperplasia of alveolar ridge
Alveolar ridge excess

Increased width of the alveolar ridges. [PMID:19125428]


Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. [HPO:sdoelken]


Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. [HPO:probinson, PMID:28744080]


Curved ulna
Curving of inner forearm bone
Bowed ulna

Bending of the diaphysis (shaft) of the ulna. [HPO:probinson]


Congenital sensorineural hearing impairment

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [HPO:probinson]


Multiple renal cortical microcysts
Multiple small renal cortical cysts
Cortical microcysts

Cysts of microscopic size confined to the cortex of the kidney. [Eurenomics:ewuehl]


Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [HPO:probinson]


Short big toe
Hypoplastic hallux
Short halluces
Small hallux
Hypoplastic big toes

Underdevelopment (hypoplasia) of the big toe. [HPO:probinson]


A lack of strength of the proximal muscles of the legs. [HPO:probinson]


A lack of strength of the proximal muscles of the arms. [HPO:probinson]


Proximal upper limb muscle atrophy
Proximal muscle atrophy in upper limbs

Muscular atrophy affecting proximally located muscles of the arms. [HPO:curators]


The presence of an abnormally increased amount of connective tissue. [HPO:curators]


Linear arrays of macular hyperkeratoses in flexural areas


Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. [https://orcid.org/0000-0002-3194-8625, PMID:10653422, PMID:2256843]


Cerebellar abnormalities
Abnormal cerebellum morphology
Cerebellar anomaly
Cerebellar abnormality

Any structural abnormality of the cerebellum. [HPO:probinson, PMID:27160001]


Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. [https://orcid.org/0000-0002-3194-8625, PMID:22451504]


Large anterior fontanelle
Large open anterior fontanelle
Large anterior fontanels
Wider-than-typical soft spot of skull
Large anterior fontanel
Large open anterior fontanel
Wide anterior fontanelle
Wide open anterior fontanelle

Enlargement of the anterior fontanelle with respect to age-dependent norms. [HPO:curators]


Inability to walk on heels
Foot dorsiflexor weakness
Footdrop
Inability to heel walk
Foot drop

Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. [HPO:probinson]


Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. [HPO:probinson]


Downturned oral commisures
Downturned corners of the mouth
Downturned mouth
Downturned corners of mouth

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. [HPO:probinson, PMID:19125428]


A congenital malformation of the pulmonary valve characterized by leaflet deformation. [PMID:7704986]


A congenital malformation of the aortic valve characterized by leaflet deformation. [PMID:21349746]


Highly variable phenotype, even within families