From HPO
Teratoma- MedGen UID:
- 21097
- •Concept ID:
- C0039538
- •
- Neoplastic Process
The presence of a teratoma.
Hepatoblastoma- MedGen UID:
- 61644
- •Concept ID:
- C0206624
- •
- Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Sacrococcygeal teratoma- MedGen UID:
- 107852
- •Concept ID:
- C0559459
- •
- Neoplastic Process
A teratoma arising in the sacro-coccygeal region.
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
Small scrotum- MedGen UID:
- 141577
- •Concept ID:
- C0455792
- •
- Finding
Apparently small scrotum for age.
Ureteral stenosis- MedGen UID:
- 105481
- •Concept ID:
- C0521618
- •
- Anatomical Abnormality
The presence of a stenotic, i.e., constricted ureter.
Hydroureter- MedGen UID:
- 101073
- •Concept ID:
- C0521620
- •
- Anatomical Abnormality
The distention of the ureter with urine.
Hypoplastic labia majora- MedGen UID:
- 107566
- •Concept ID:
- C0566899
- •
- Finding
Undergrowth of the outer labia.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Hypoplastic labia minora- MedGen UID:
- 376558
- •Concept ID:
- C1849295
- •
- Finding
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Single transverse palmar crease- MedGen UID:
- 96108
- •Concept ID:
- C0424731
- •
- Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Postaxial hand polydactyly- MedGen UID:
- 609221
- •Concept ID:
- C0431904
- •
- Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Tibial bowing- MedGen UID:
- 332360
- •Concept ID:
- C1837081
- •
- Finding
A bending or abnormal curvature of the tibia.
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Wide distal femoral metaphysis- MedGen UID:
- 376560
- •Concept ID:
- C1849309
- •
- Finding
Increased width of the distal part of the shaft (metaphysis) of the femur.
Short 1st metacarpal- MedGen UID:
- 376561
- •Concept ID:
- C1849311
- •
- Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Opisthotonus- MedGen UID:
- 56246
- •Concept ID:
- C0151818
- •
- Sign or Symptom
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Hypoplasia of the corpus callosum- MedGen UID:
- 138005
- •Concept ID:
- C0344482
- •
- Congenital Abnormality
Underdevelopment of the corpus callosum.
Hypsarrhythmia- MedGen UID:
- 195766
- •Concept ID:
- C0684276
- •
- Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Long clavicles- MedGen UID:
- 96530
- •Concept ID:
- C0426808
- •
- Finding
Increased length of the clavicles.
Short sternum- MedGen UID:
- 108394
- •Concept ID:
- C0575497
- •
- Finding
Decreased inferosuperior length of the sternum.
Hypoplasia of first ribs- MedGen UID:
- 331732
- •Concept ID:
- C1834386
- •
- Congenital Abnormality
Thickened cortex of long bones- MedGen UID:
- 333557
- •Concept ID:
- C1840418
- •
- Finding
Abnormal thickening of the cortex of long bones.
Broad ribs- MedGen UID:
- 336390
- •Concept ID:
- C1848654
- •
- Finding
Increased width of ribs
Widely patent fontanelles and sutures- MedGen UID:
- 336570
- •Concept ID:
- C1849300
- •
- Finding
An abnormally increased width of the cranial fontanelles and sutures.
Aplasia/Hypoplasia of the pubic bone- MedGen UID:
- 338651
- •Concept ID:
- C1849305
- •
- Finding
Absence or underdevelopment of the pubic bone.
Increased density of long bones- MedGen UID:
- 340289
- •Concept ID:
- C1849307
- •
- Finding
An abnormal increase in the bone density of the long bones.
Sclerosis of skull base- MedGen UID:
- 377095
- •Concept ID:
- C1851714
- •
- Finding
Increased bone density of the skull base without significant changes in bony contour.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Shallow orbits- MedGen UID:
- 351328
- •Concept ID:
- C1865244
- •
- Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Metopic suture patent to nasal root- MedGen UID:
- 870735
- •Concept ID:
- C4025189
- •
- Anatomical Abnormality
The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.
Abnormal nasopharynx morphology- MedGen UID:
- 871265
- •Concept ID:
- C4025750
- •
- Anatomical Abnormality
A structural anomaly of the nasopharynx.
Splenopancreatic fusion- MedGen UID:
- 1706964
- •Concept ID:
- C5139112
- •
- Anatomical Abnormality
Fusion of the pancreatic tail and spleen.
Macroglossia- MedGen UID:
- 44236
- •Concept ID:
- C0024421
- •
- Disease or Syndrome
Increased length and width of the tongue.
High forehead- MedGen UID:
- 65991
- •Concept ID:
- C0239676
- •
- Finding
An abnormally increased height of the forehead.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Choanal stenosis- MedGen UID:
- 108427
- •Concept ID:
- C0584837
- •
- Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
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.
Sloping forehead- MedGen UID:
- 346640
- •Concept ID:
- C1857679
- •
- Finding
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.
Facial hemangioma- MedGen UID:
- 348361
- •Concept ID:
- C1861443
- •
- Finding
Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
Hypertrichosis- MedGen UID:
- 43787
- •Concept ID:
- C0020555
- •
- Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hyperconvex nail- MedGen UID:
- 488894
- •Concept ID:
- C0423807
- •
- Finding
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
Hypoplastic nipples- MedGen UID:
- 98156
- •Concept ID:
- C0432355
- •
- Congenital Abnormality
Underdevelopment of the nipple.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality
- Neoplasm